Q8N323
PR
Gene name |
NXPE1 (FAM55A) |
Protein name |
NXPE family member 1 |
Names |
Protein FAM55A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:120400 |
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 Q8N323
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N323-F1 | Predicted | AlphaFoldDB |
486 variants for Q8N323
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA382692069 rs1251291812 |
2 | S>T | No |
ClinGen gnomAD |
|
|
CA382692051 rs78658939 |
4 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382692047 rs1253402574 |
5 | T>S | No |
ClinGen gnomAD |
|
|
rs1012732904 CA228758031 |
6 | M>I | No |
ClinGen TOPMed |
|
|
CA382692042 rs1341957016 |
6 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382692029 rs1296377556 |
8 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1035500755 CA228758024 |
8 | Q>L | No |
ClinGen TOPMed |
|
|
rs112872873 CA382692014 |
10 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78257939 CA6286720 |
10 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs112872873 CA6286721 |
10 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382692010 rs1386078249 |
11 | L>M | No |
ClinGen gnomAD |
|
|
CA382691984 rs1299624685 |
15 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382691976 rs1460260251 |
16 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1460260251 CA382691974 |
16 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA382691955 rs1389374392 |
19 | V>A | No |
ClinGen gnomAD |
|
|
CA228758009 rs902644724 |
20 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382691944 rs1181654678 |
21 | T>S | No |
ClinGen TOPMed |
|
|
rs1354307340 CA382691935 |
22 | W>C | No |
ClinGen gnomAD |
|
|
rs78453693 CA6286718 |
23 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA382691922 rs1591303293 |
24 | I>N | No |
ClinGen Ensembl |
|
|
CA382691906 rs1438848074 |
26 | I>T | No |
ClinGen gnomAD |
|
|
rs1416262773 CA382691909 |
26 | I>V | No |
ClinGen gnomAD |
|
|
rs1393861152 CA382691890 |
29 | Q>K | No |
ClinGen gnomAD |
|
|
rs769814273 CA6286717 |
33 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs756595137 CA6286706 |
35 | W>S | No |
ClinGen ExAC |
|
|
CA6286704 rs753120256 |
36 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1365672302 CA382691814 |
37 | A>G | No |
ClinGen gnomAD |
|
|
CA228739105 rs986981439 |
37 | A>S | No |
ClinGen Ensembl |
|
|
rs1591265474 CA382691809 |
38 | L>P | No |
ClinGen Ensembl |
|
|
CA6286702 rs759875251 |
40 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7944960 CA6286703 |
40 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6286701 rs773884891 |
41 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382691794 rs773884891 |
41 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766006620 CA6286700 |
42 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382691788 rs1460571231 |
42 | I>V | No |
ClinGen TOPMed |
|
|
CA382691781 rs1195047258 |
43 | S>A | No |
ClinGen gnomAD |
|
|
rs757880682 CA228739094 |
44 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6286698 rs772816443 |
45 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382691770 rs1565301463 |
45 | H>R | No |
ClinGen Ensembl |
|
|
CA228739079 rs772816443 |
45 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228739074 rs918724793 |
48 | N>H | No |
ClinGen gnomAD |
|
|
CA228739067 rs563302697 |
50 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6286696 rs563302697 |
50 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6286693 rs145902366 |
51 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6286694 rs145902366 |
51 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779039397 CA6286692 |
51 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749421933 CA6286690 |
52 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777819693 CA6286689 |
55 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA382691694 rs1157038479 |
57 | K>Q | No |
ClinGen gnomAD |
|
|
rs1242807277 CA382691685 |
58 | T>A | No |
ClinGen TOPMed |
|
|
rs756678940 CA6286686 |
59 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142166006 CA6286684 |
62 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237335323 CA382691644 |
64 | K>N | No |
ClinGen gnomAD |
|
|
rs1186390060 CA382691642 |
65 | P>A | No |
ClinGen gnomAD |
|
|
rs1327919170 CA382691606 |
70 | E>D | No |
ClinGen gnomAD |
|
|
CA6286682 rs751912013 |
70 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286681 rs765987415 |
71 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762671994 CA6286680 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1353970745 CA382691567 |
76 | I>T | No |
ClinGen gnomAD |
|
|
rs966546911 CA228739026 |
76 | I>V | No |
ClinGen TOPMed |
|
|
CA6286678 rs764936120 |
77 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391558913 CA382691563 |
77 | I>R | No |
ClinGen gnomAD |
|
|
rs750009228 CA6286679 |
77 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6286677 rs541080156 |
78 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1434436907 CA382691539 |
81 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6286675 rs776733291 |
83 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167733010 CA382691513 |
84 | I>T | No |
ClinGen gnomAD |
|
|
CA228739010 rs572227235 |
85 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1054942230 CA228739003 |
86 | P>S | No |
ClinGen gnomAD |
|
|
CA228738996 rs1006856498 |
88 | P>L | No |
ClinGen Ensembl |
|
|
CA6286671 rs775337239 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1464043129 CA382691476 |
90 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1464043129 CA382691477 |
90 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382691479 rs1186323149 |
90 | T>S | No |
ClinGen gnomAD |
|
|
rs889747963 CA382691469 |
91 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1449796629 CA382691463 |
92 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771120359 CA6286670 |
92 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288831518 CA382691461 |
93 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs749509940 CA382691456 |
93 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591265150 CA382691454 |
94 | T>P | No |
ClinGen Ensembl |
|
|
rs1363485013 CA382691447 |
95 | T>A | No |
ClinGen gnomAD |
|
|
CA6286668 rs777901918 |
95 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs1363485013 CA382691448 |
95 | T>P | No |
ClinGen gnomAD |
|
|
rs748174335 CA6286666 |
98 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs769873176 CA6286667 |
98 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231563924 CA382691398 |
102 | T>I | No |
ClinGen TOPMed |
|
|
rs897144080 CA382691395 |
103 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs897144080 CA228738979 |
103 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs998296343 CA228738981 |
103 | A>T | No |
ClinGen TOPMed |
|
|
rs781580609 CA382691390 |
104 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs781580609 CA6286665 |
104 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA382691378 rs1329909603 |
106 | L>H | No |
ClinGen gnomAD |
|
|
CA6286664 rs755479001 |
108 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6286662 rs116475119 |
109 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6286661 rs758771460 |
109 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758771460 CA6286660 |
109 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286658 rs150352433 |
111 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382691334 rs1205187441 |
113 | C>F | No |
ClinGen gnomAD |
|
|
CA6286657 rs553185320 |
113 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382691336 rs1205187441 |
113 | C>Y | No |
ClinGen gnomAD |
|
|
CA382691318 rs1483912189 |
116 | D>N | No |
ClinGen gnomAD |
|
|
CA382691316 rs1483912189 |
116 | D>Y | No |
ClinGen gnomAD |
|
|
rs753360888 CA6286656 |
118 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382691281 rs556980570 |
121 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556980570 CA6286655 |
121 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6286653 rs775218707 |
122 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468031473 CA382691273 |
123 | E>* | No |
ClinGen gnomAD |
|
|
CA382691262 rs1591264959 |
124 | V>G | No |
ClinGen Ensembl |
|
|
rs1591264946 CA382691259 |
125 | R>T | No |
ClinGen Ensembl |
|
|
CA6286648 rs764666956 |
126 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA382691252 rs1307809813 |
126 | D>Y | No |
ClinGen gnomAD |
|
|
rs1375703191 CA382691242 |
127 | H>P | No |
ClinGen gnomAD |
|
|
rs1430918187 CA382691236 |
128 | L>S | No |
ClinGen gnomAD |
|
|
rs776750087 CA6286646 |
130 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286645 rs769099070 |
130 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473539754 CA382691216 |
131 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6286643 rs780369388 |
134 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1271299387 CA382691153 |
140 | R>K | No |
ClinGen TOPMed |
|
|
rs756951518 CA6286639 |
141 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1239322948 CA382691146 |
141 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201130038 CA382691140 |
142 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755515183 CA382691134 CA6286635 |
143 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs370911123 CA228738892 |
143 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs370911123 CA6286636 |
143 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA382691135 rs370911123 |
143 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1337101180 CA382691120 |
146 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1304222341 CA382691109 |
147 | A>V | No |
ClinGen gnomAD |
|
|
rs115886410 CA6286633 |
149 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115886410 CA382691099 |
149 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6286631 rs45596232 |
151 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1394059380 CA382691090 |
151 | G>R | No |
ClinGen TOPMed |
|
|
rs1328485628 CA382691083 |
152 | A>G | No |
ClinGen gnomAD |
|
|
CA382691087 rs1329307339 |
152 | A>T | No |
ClinGen TOPMed |
|
|
rs1591264694 CA382691057 |
156 | V>G | No |
ClinGen Ensembl |
|
|
CA6286629 rs762080700 |
156 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs776640762 CA6286628 |
157 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158402816 CA382691052 |
157 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs115653681 CA6286626 |
163 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115653681 CA382691007 |
163 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1483048251 CA382690998 |
164 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6286623 rs746287149 |
166 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA228738854 rs866834126 |
167 | S>N | No |
ClinGen gnomAD |
|
|
CA6286622 rs779412333 |
170 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1323866968 CA382690961 |
171 | F>L | No |
ClinGen gnomAD |
|
|
CA6286621 rs748977507 |
171 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286617 rs752103385 |
172 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs755669473 CA6286618 |
172 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286619 rs755669473 |
172 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228738837 rs375194760 |
174 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375194760 CA6286615 |
174 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382690938 rs1458793297 |
174 | G>V | No |
ClinGen TOPMed |
|
|
CA6286613 rs751414218 |
175 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs565216267 CA6286612 |
177 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs762587712 CA6286611 |
178 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1423413679 CA382690904 |
181 | L>M | No |
ClinGen gnomAD |
|
|
rs1420465657 CA382690899 |
182 | L>F | No |
ClinGen gnomAD |
|
|
CA6286609 rs772759119 |
183 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs760849432 CA6286608 |
183 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA228738810 rs774935002 |
184 | H>L | No |
ClinGen ExAC TOPMed |
|
|
CA6286604 rs774935002 |
184 | H>P | No |
ClinGen ExAC TOPMed |
|
|
rs140560209 CA6286605 |
184 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771343665 CA6286603 |
185 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1244549017 CA382690872 |
186 | S>R | No |
ClinGen gnomAD |
|
|
rs1453552626 CA382690870 |
187 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6286601 rs199668376 |
188 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282386428 CA382690855 |
189 | A>S | No |
ClinGen TOPMed |
|
|
rs760378519 CA6286600 |
189 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286598 rs147257242 |
190 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368015573 CA6286596 |
192 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA228738785 rs941540498 |
193 | W>* | No |
ClinGen Ensembl |
|
|
rs1355488454 CA382690821 |
195 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA382690799 rs1291764874 |
198 | Q>E | No |
ClinGen gnomAD |
|
|
CA6286594 rs779918563 |
199 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs910017399 CA228738775 |
204 | I>S | No |
ClinGen gnomAD |
|
|
rs1389564182 COSM1743949 CA382690709 |
207 | G>V | biliary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1054895226 CA228738768 |
210 | V>L | No |
ClinGen Ensembl |
|
|
CA382690638 rs1333221779 |
212 | G>D | No |
ClinGen TOPMed |
|
|
CA6286591 rs764426418 |
213 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382690621 rs764426418 |
213 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286587 rs759634263 |
214 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767711774 CA6286588 |
214 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6286589 rs767711774 |
214 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA382690599 rs1206772474 |
215 | H>R | No |
ClinGen gnomAD |
|
|
CA382690572 rs1259089538 |
217 | F>S | No |
ClinGen TOPMed |
|
|
CA6286585 rs771300337 |
220 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286584 rs763410752 |
221 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382690498 rs1474143229 |
223 | T>N | No |
ClinGen TOPMed |
|
|
rs769543881 CA6286582 |
226 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1332358992 CA382690467 |
226 | S>P | No |
ClinGen gnomAD |
|
|
CA6286581 rs747793989 |
230 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA671984025 rs1287150744 |
231 | C>* | No |
ClinGen TOPMed |
|
|
rs1459661060 CA382690396 |
231 | C>Y | No |
ClinGen TOPMed |
|
|
rs749473801 CA228738737 |
232 | E>D | No |
ClinGen Ensembl |
|
|
rs780754796 CA382690359 |
233 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA382690340 rs1428022036 |
235 | D>G | No |
ClinGen gnomAD |
|
|
CA228738732 rs966360750 |
237 | R>I | No |
ClinGen Ensembl |
|
|
rs1306003499 CA382690303 |
238 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA382690309 rs1384411181 |
238 | D>N | No |
ClinGen TOPMed |
|
|
rs200711355 CA228738729 |
240 | E>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1354117471 CA382690283 |
241 | A>G | No |
ClinGen TOPMed |
|
|
CA6286578 rs768167351 |
241 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA382690272 rs1467624373 |
243 | Y>D | No |
ClinGen gnomAD |
|
|
CA228738724 rs188537245 |
244 | C>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1326349872 CA382690262 |
244 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780008512 CA6286576 |
245 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs780008512 CA6286577 |
245 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs45609739 CA6286575 |
247 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750291617 CA6286574 |
249 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757014399 CA6286572 |
250 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286573 rs778571521 |
250 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382690215 rs752983703 |
251 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286571 rs752983703 |
251 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767803372 CA6286570 |
252 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759716088 CA6286569 |
254 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA382690196 rs1265167164 |
254 | A>T | No |
ClinGen TOPMed |
|
|
CA6286568 rs751653657 |
256 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA382690171 rs1186900505 |
258 | M>L | No |
ClinGen TOPMed |
|
|
rs924331367 CA228738700 |
258 | M>T | No |
ClinGen TOPMed |
|
|
rs150857743 COSM3397425 CA6286564 |
261 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs763352009 CA6286565 |
261 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286561 rs776298303 |
267 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs762107429 CA6286562 |
267 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA6286559 rs141451498 |
268 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6286560 rs141451498 |
268 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6286558 rs774850877 COSM428448 |
270 | D>Y | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778856171 CA6286555 |
275 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA228738668 rs954580518 |
278 | R>K | No |
ClinGen TOPMed |
|
|
rs780263636 CA6286522 |
281 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA382689653 rs1380179859 |
282 | G>R | No |
ClinGen TOPMed |
|
|
CA6286521 rs758429750 |
285 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286520 rs145084457 |
286 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6286519 rs765713906 |
286 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6286517 rs1555041464 |
287 | K>M | No |
ClinGen Ensembl |
|
|
CA382689600 rs1166368143 |
288 | D>E | No |
ClinGen gnomAD |
|
|
rs931967801 CA228738027 |
288 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs116309340 COSM385652 CA6286516 |
288 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs754269717 CA6286515 |
289 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM673803 rs143110380 CA6286514 |
289 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA382689597 rs754269717 |
289 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs760974592 CA6286513 |
290 | K>E | No |
ClinGen ExAC |
|
|
CA228738021 rs748070045 |
291 | H>Q | No |
ClinGen Ensembl |
|
|
CA6286512 rs752319679 |
292 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286511 rs767162163 |
293 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs767162163 CA228738016 |
293 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759005061 CA382689537 |
294 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs759005061 CA6286510 |
294 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6286509 rs773885488 |
295 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286508 rs771047826 |
296 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs773215540 CA6286506 |
297 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs201428698 CA6286505 |
299 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs556916140 CA228736850 |
299 | K>R | No |
ClinGen 1000Genomes |
|
|
rs377195015 CA382689459 |
300 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377195015 CA228736845 |
300 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377195015 CA6286483 |
300 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771023838 CA6286482 |
301 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA382689454 rs1460916096 |
301 | E>V | No |
ClinGen gnomAD |
|
|
CA382689442 rs1211051288 COSM147327 |
302 | K>N | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA228736836 rs987874259 |
303 | I>V | No |
ClinGen gnomAD |
|
|
CA228736827 rs956443370 |
304 | E>K | No |
ClinGen TOPMed |
|
|
CA228736829 rs956443370 |
304 | E>Q | No |
ClinGen TOPMed |
|
|
rs749330462 CA6286479 |
306 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA382689419 rs1314426872 |
306 | T>I | No |
ClinGen gnomAD |
|
|
rs1032005129 CA228736820 |
307 | C>G | No |
ClinGen Ensembl |
|
|
rs778296739 CA6286478 |
307 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA382689371 rs1381329546 |
313 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382689373 rs1381329546 |
313 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1437143458 CA382689361 |
315 | V>I | No |
ClinGen gnomAD |
|
|
rs781614218 CA6286476 |
316 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6286475 rs781614218 |
316 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA382689351 rs1288270294 |
317 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382689346 rs1458212824 |
317 | G>V | No |
ClinGen gnomAD |
|
|
CA382689341 rs1423343581 |
318 | G>D | No |
ClinGen TOPMed |
|
|
RCV000893763 rs79538449 CA6286474 |
318 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6286472 rs766079262 |
320 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758013670 CA6286471 |
321 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286470 rs749921148 |
322 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228736800 rs267602704 |
323 | G>E | No |
ClinGen gnomAD |
|
|
CA6286469 rs765146411 |
325 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1381666730 CA382689267 |
325 | W>R | No |
ClinGen gnomAD |
|
|
rs776367527 CA6286467 |
326 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA6286468 rs761806769 |
326 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382689219 rs1264067269 |
328 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382689223 rs1264067269 |
328 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6286466 rs114938775 |
331 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760342278 CA6286465 |
332 | Q>* | No |
ClinGen ExAC |
|
|
CA382689046 rs760342278 |
332 | Q>E | No |
ClinGen ExAC |
|
|
rs554549274 CA228736784 |
333 | V>I | No |
ClinGen TOPMed |
|
|
rs997416218 CA228736777 |
338 | I>M | No |
ClinGen TOPMed |
|
|
CA382688966 rs1353737208 |
338 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753618211 CA228736780 |
338 | I>V | No |
ClinGen TOPMed |
|
|
rs115978809 CA228736773 |
340 | I>M | No |
ClinGen 1000Genomes |
|
|
CA6286460 rs773258158 |
343 | C>Y | No |
ClinGen ExAC |
|
|
rs770267987 CA228736764 |
346 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770267987 CA6286459 |
346 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382688807 rs755390673 |
350 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755390673 CA6286456 |
350 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286457 rs755390673 |
350 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329232878 CA382688785 |
351 | L>R | No |
ClinGen gnomAD |
|
|
CA382688770 VAR_036712 CA6286455 rs10891692 |
353 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382688749 rs1170759946 |
354 | D>E | No |
ClinGen gnomAD |
|
|
CA6286454 rs779892204 |
354 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369017531 CA6286453 |
355 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764809289 CA6286450 |
357 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs114194903 CA6286449 |
358 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116829295 CA6286447 |
358 | R>H | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs763901184 CA6286445 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs760506682 CA6286444 |
362 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs775248253 CA6286443 |
363 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382688635 rs1336809594 |
364 | F>L | No |
ClinGen gnomAD |
|
|
rs931299886 CA228736726 |
365 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1250270177 CA382688619 |
365 | P>S | No |
ClinGen gnomAD |
|
|
rs763153978 CA6286441 |
366 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763153978 CA382688608 |
366 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533326931 CA228736720 |
367 | V>I | No |
ClinGen TOPMed |
|
|
CA382688592 rs1228642399 |
368 | V>L | No |
ClinGen Ensembl |
|
|
CA6286438 rs769927558 |
369 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA382687677 rs1483975786 |
370 | T>K | No |
ClinGen gnomAD |
|
|
rs201695807 CA6286437 |
370 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356162079 CA382687637 |
373 | F>L | No |
ClinGen TOPMed |
|
|
COSM1506889 rs1222898580 CA382687593 |
375 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA382687588 rs1329519408 |
375 | D>V | No |
ClinGen gnomAD |
|
|
rs1289996095 CA382687572 |
376 | L>F | No |
ClinGen gnomAD |
|
|
rs147824438 CA6286420 |
377 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382687560 rs1237091181 |
377 | H>Y | No |
ClinGen gnomAD |
|
|
rs759265821 CA6286419 |
378 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA382687537 rs1397832645 |
378 | E>V | No |
ClinGen gnomAD |
|
|
rs750678399 CA6286418 |
379 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA228736556 rs949702862 |
380 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs949702862 CA382687519 |
380 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1591249730 CA382687457 |
383 | K>M | No |
ClinGen Ensembl |
|
|
rs761991154 CA6286415 |
385 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776550762 CA6286414 |
386 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs761268613 CA6286412 |
388 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1565294650 CA382687364 |
389 | D>E | No |
ClinGen Ensembl |
|
|
rs776084231 CA6286411 |
390 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202890118 CA382687340 |
391 | E>G | No |
ClinGen gnomAD |
|
|
rs772589598 CA6286410 |
392 | R>S | No |
ClinGen ExAC TOPMed |
|
|
rs746197216 CA6286409 |
394 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778670152 CA6286408 |
395 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770470755 CA6286407 |
398 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA382687221 rs1475235179 |
398 | W>C | No |
ClinGen TOPMed |
|
|
rs1256257826 CA382687232 |
398 | W>R | No |
ClinGen TOPMed |
|
|
rs144404046 CA6286406 |
399 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777139851 CA6286404 |
401 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896742684 CA228736524 |
403 | Y>C | No |
ClinGen Ensembl |
|
|
rs781055560 CA6286401 |
404 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382687163 rs781055560 |
404 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286399 rs116427194 |
406 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382687139 rs1591249565 |
408 | F>S | No |
ClinGen Ensembl |
|
|
rs200811586 CA6286398 |
411 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200811586 CA228736513 |
411 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382687120 rs1391987128 |
411 | Y>H | No |
ClinGen gnomAD |
|
|
rs115214841 CA6286396 |
412 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369848558 CA6286397 |
412 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142664800 CA6286395 |
414 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6286393 rs776174268 COSM3666852 |
415 | D>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6286394 rs75290739 |
415 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1565294491 CA382687086 |
417 | D>N | No |
ClinGen Ensembl |
|
|
rs975762989 CA228736486 |
420 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382687063 rs1211813432 |
420 | P>T | No |
ClinGen gnomAD |
|
|
CA6286390 rs116780049 |
421 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6286391 rs566770021 |
421 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1367514781 CA382687055 |
422 | E>K | No |
ClinGen gnomAD |
|
|
rs34993124 CA6286389 VAR_036713 |
423 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs748894346 CA6286388 |
424 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs376288356 CA6286386 |
425 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376288356 CA6286385 |
425 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs115946153 CA6286387 |
425 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA228736467 rs907227903 |
426 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs754887335 CA6286383 |
428 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA228736462 rs1041755020 |
429 | D>N | No |
ClinGen TOPMed |
|
|
rs1166032880 CA382686993 |
432 | T>A | No |
ClinGen gnomAD |
|
|
rs779709391 CA6286380 |
433 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6286381 rs199812582 |
433 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382686985 rs779709391 |
433 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs116712555 CA6286378 |
434 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6286379 rs187280564 |
434 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs367806483 CA6286376 COSM1171751 |
435 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA382686972 rs1331430673 |
436 | I>F | No |
ClinGen TOPMed |
|
|
CA6286375 rs752805678 |
436 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1369290273 CA382686963 |
437 | T>I | No |
ClinGen TOPMed |
|
|
rs374915027 CA6286374 |
438 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013503915 CA228736437 |
439 | G>A | No |
ClinGen gnomAD |
|
|
CA382686938 rs1214444884 |
441 | H>R | No |
ClinGen gnomAD |
|
|
rs774850313 CA6286372 |
444 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6286370 rs763324761 |
447 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6286371 rs763324761 |
447 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6286369 rs772880678 |
447 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA382686900 rs763324761 |
447 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6286368 rs769402776 |
448 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371179198 CA228736424 |
448 | D>G | No |
ClinGen ESP |
|
|
rs747703983 CA6286367 |
449 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA382686889 rs1410056416 |
449 | I>V | No |
ClinGen gnomAD |
|
|
rs368544262 COSM923305 CA6286366 |
452 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6286365 COSM1206379 rs201047483 |
452 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6286364 rs201047483 |
452 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178574497 CA382686859 |
454 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6286360 rs778187975 |
456 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs745647475 CA6286361 COSM1506890 |
456 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA382686843 rs778187975 |
456 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6286359 rs146135669 |
457 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1591249139 CA382686840 |
457 | V>I | No |
ClinGen Ensembl |
|
|
CA6286357 rs767705521 |
458 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1387294750 CA382686812 |
461 | I>N | No |
ClinGen gnomAD |
|
|
CA6286356 rs755031294 |
461 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382686810 rs1369623146 |
462 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs775259819 CA6286355 |
463 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs752033386 CA6286354 |
463 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142940759 CA6286352 |
464 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375031051 CA382686791 |
465 | F>L | No |
ClinGen gnomAD |
|
|
rs773544897 CA6286351 |
466 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6286349 rs761450600 |
468 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764928332 CA6286350 |
468 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1468181712 CA382686764 |
469 | P>R | No |
ClinGen gnomAD |
|
|
CA228736373 rs867994414 |
470 | A>V | No |
ClinGen Ensembl |
|
|
CA6286348 rs776200189 |
471 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6286347 rs768072972 |
472 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228736361 rs904053084 |
478 | E>* | No |
ClinGen Ensembl |
|
|
rs1372631243 CA382686703 |
478 | E>G | No |
ClinGen TOPMed |
|
|
rs374167306 CA228736358 |
479 | N>H | No |
ClinGen ESP TOPMed |
|
|
rs1176894595 CA382686659 |
480 | I>M | No |
ClinGen gnomAD |
|
|
CA6286344 rs562986823 |
482 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6286343 rs371341113 |
483 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1043884304 CA228736351 |
483 | M>L | No |
ClinGen Ensembl |
|
|
CA382686591 rs1202263272 |
484 | H>P | No |
ClinGen gnomAD |
|
|
rs778844080 CA6286342 |
485 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951930057 CA228736339 |
491 | G>R | No |
ClinGen TOPMed |
|
|
rs17852630 CA228736334 |
491 | G>V | No |
ClinGen Ensembl |
|
|
CA6286340 rs748400187 |
492 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs770778384 CA6286341 |
492 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781430518 CA6286339 |
494 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138493197 CA228736329 |
494 | H>R | No |
ClinGen ESP |
|
|
rs1304409340 CA382686436 |
495 | G>V | No |
ClinGen gnomAD |
|
|
CA382686416 rs1373641287 |
498 | H>R | No |
ClinGen TOPMed |
|
|
CA382686418 rs1591248888 |
498 | H>Y | No |
ClinGen Ensembl |
|
|
CA382686405 rs1388200471 |
499 | Y>* | No |
ClinGen TOPMed |
|
|
CA382686399 rs1292958828 |
500 | L>H | No |
ClinGen TOPMed |
|
|
CA6286337 rs751630077 |
502 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751630077 CA6286336 |
502 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382686375 rs1394859175 |
503 | K>Q | No |
ClinGen gnomAD |
|
|
CA228736317 rs976156009 |
503 | K>R | No |
ClinGen Ensembl |
|
|
CA228736314 rs267602703 |
504 | D>N | No |
ClinGen Ensembl |
|
|
CA6286335 rs780477739 |
505 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1174590877 CA382686308 |
506 | F>S | No |
ClinGen gnomAD |
|
|
CA228736310 rs944320365 |
508 | D>G | No |
ClinGen TOPMed |
|
|
rs758932978 CA6286334 |
509 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382686261 rs758932978 |
509 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591248794 CA382686248 |
510 | N>H | No |
ClinGen Ensembl |
|
|
rs150910581 CA382686238 |
510 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382686234 rs765591762 |
510 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150910581 CA6286333 |
510 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6286331 rs762117458 |
511 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs141557180 CA6286330 |
514 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6286328 rs760150395 |
517 | W>* | No |
ClinGen ExAC |
|
|
CA6286329 rs763770230 |
517 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6286327 rs147983542 |
519 | M>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA382686109 rs147983542 |
519 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA382686082 rs1444141717 |
520 | T>I | No |
ClinGen gnomAD |
|
|
CA382686085 rs1444141717 |
520 | T>N | No |
ClinGen gnomAD |
|
|
rs1485060592 CA382686054 |
522 | A>G | No |
ClinGen gnomAD |
|
|
rs759546535 CA6286325 |
522 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1209006208 CA382686013 |
524 | G>A | No |
ClinGen gnomAD |
|
|
CA228736275 rs951930516 |
526 | D>G | No |
ClinGen Ensembl |
|
|
CA6286322 rs200281565 |
526 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6286319 rs141275411 |
527 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758406485 CA6286317 |
527 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758406485 CA6286318 |
527 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6286320 rs141275411 |
527 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397192423 CA382685949 |
528 | I>T | No |
ClinGen TOPMed |
|
|
CA382685959 rs1358177571 |
528 | I>V | No |
ClinGen gnomAD |
|
|
rs750941595 CA228736263 |
529 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382685912 rs1359531082 |
531 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382685885 rs1288092630 |
532 | D>E | No |
ClinGen gnomAD |
|
|
CA382685873 rs1383719799 |
533 | H>R | No |
ClinGen TOPMed |
|
|
CA382685880 rs1436985445 |
533 | H>Y | No |
ClinGen gnomAD |
|
|
CA6286314 rs757657754 |
534 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs747135411 CA228736258 |
534 | V>M | No |
ClinGen Ensembl |
|
|
CA6286312 rs574104994 |
535 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1232657439 CA382685859 |
536 | G>R | No |
ClinGen TOPMed |
|
|
rs560863314 CA6286310 |
537 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293802791 CA382685825 |
540 | N>K | No |
ClinGen TOPMed |
|
|
CA6286308 rs767063991 |
542 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs540491301 CA6286309 |
542 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1010251473 CA228736237 |
543 | L>F | No |
ClinGen TOPMed |
|
|
rs759072927 CA6286307 |
543 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs79916924 CA6286306 |
547 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q8N323
No regional properties for Q8N323
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8N323 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
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 |
| MSSNTMLQKT | LLILISFSVV | TWMIFIISQN | FTKLWSALNL | SISVHYWNNS | AKSLFPKTSL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IPLKPLTETE | LRIKEIIEKL | DQQIPPRPFT | HVNTTTSATH | STATILNPRD | TYCRGDQLDI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLEVRDHLGQ | RKQYGGDFLR | ARMSSPALTA | GASGKVMDFN | NGTYLVSFTL | FWEGQVSLSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLIHPSEGAS | ALWRARNQGY | DKIIFKGKFV | NGTSHVFTEC | GLTLNSNAEL | CEYLDDRDQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AFYCMKPQHM | PCEALTYMTT | RNREVSYLTD | KENSLFHRSK | VGVEMMKDRK | HIDVTNCNKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EKIEETCQVG | MKPPVPGGYT | LQGKWITTFC | NQVQLDTIKI | NGCLKGKLIY | LLGDSTLRQW |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IYYFPKVVKT | LKFFDLHETG | IFKKHLLLDA | ERHTQIQWKK | HSYPFVTFQL | YSLIDHDYIP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| REIDRLSGDK | NTAIVITFGQ | HFRPFPIDIF | IRRAIGVQKA | IERLFLRSPA | TKVIIKTENI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| REMHIETERF | GDFHGYIHYL | IMKDIFKDLN | VGIIDAWDMT | IAYGTDTIHP | PDHVIGNQIN |
| MFLNYIC |