Q8NA69
PR
Gene name |
TEX45 |
Protein name |
Testis-expressed protein 45 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:374877 |
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 Q8NA69
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NA69-F1 | Predicted | AlphaFoldDB |
481 variants for Q8NA69
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1486349110 CA403127063 |
4 | G>D | No |
ClinGen gnomAD |
|
|
CA304883282 rs886141381 |
5 | A>D | No |
ClinGen Ensembl |
|
|
rs1372855522 CA403127067 |
5 | A>T | No |
ClinGen TOPMed |
|
|
rs747690965 CA9137689 |
6 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137688 rs747690965 |
6 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777450757 CA9137691 |
8 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9137693 rs115016050 |
9 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304883285 rs1037247016 |
9 | C>Y | No |
ClinGen gnomAD |
|
|
CA9137694 rs774142936 |
10 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995644395 CA304883287 |
10 | S>A | No |
ClinGen Ensembl |
|
|
rs774142936 CA403127233 |
10 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403127242 rs1345555768 |
11 | R>G | No |
ClinGen gnomAD |
|
|
CA403127247 rs1369056178 |
11 | R>H | No |
ClinGen TOPMed |
|
|
rs745736496 CA9137697 |
12 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137696 rs745736496 |
12 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765277248 CA9137700 |
13 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs773446072 CA9137701 |
13 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137702 rs190997952 |
14 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403127358 rs1286798223 |
15 | M>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 17 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403127502 rs1462803531 |
20 | F>L | No |
ClinGen gnomAD |
|
|
rs1242608214 CA403127550 |
22 | K>* | No |
ClinGen gnomAD |
|
|
CA9137707 rs370726680 |
25 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236936836 CA403127662 |
27 | S>L | No |
ClinGen TOPMed |
|
|
rs1156537168 CA403127666 |
28 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753469209 CA9137710 |
29 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137709 rs183196408 |
29 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756905499 CA9137711 |
30 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403127704 rs1335568379 |
30 | P>S | No |
ClinGen gnomAD |
|
|
CA403127729 rs1446465576 |
31 | D>A | No |
ClinGen gnomAD |
|
|
CA9137713 rs745646462 |
33 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771907033 CA9137714 |
36 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137715 rs780013661 |
37 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403127823 rs1451580117 |
38 | T>S | No |
ClinGen TOPMed |
|
|
CA403127828 rs140134109 |
39 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473330456 CA403127836 |
39 | M>R | No |
ClinGen TOPMed |
|
|
rs140134109 CA9137716 |
39 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769872234 CA9137717 |
40 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769872234 CA304883328 |
40 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426848618 CA403127844 |
40 | R>S | No |
ClinGen TOPMed |
|
|
rs1007529541 CA304883329 |
41 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403127855 rs1440709203 |
41 | T>S | No |
ClinGen gnomAD |
|
|
CA403127908 rs1268808955 |
46 | D>G | No |
ClinGen gnomAD |
|
|
rs1179799919 CA403127932 |
48 | A>T | No |
ClinGen gnomAD |
|
|
CA403127955 rs1431153453 |
49 | Y>* | No |
ClinGen gnomAD |
|
|
CA403127950 rs1019781870 |
49 | Y>C | No |
ClinGen gnomAD |
|
|
rs1019781870 CA304883330 |
49 | Y>S | No |
ClinGen gnomAD |
|
|
CA304883331 rs966395863 |
53 | T>P | No |
ClinGen Ensembl |
|
|
CA9137718 rs773179504 |
55 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs771274765 CA9137720 |
56 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403128113 rs1278141869 |
63 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304883351 rs1032276330 |
64 | A>S | No |
ClinGen TOPMed |
|
|
CA9137723 rs759947598 |
68 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1380933469 CA403128168 |
68 | P>L | No |
ClinGen Ensembl |
|
|
rs970610009 CA403128176 |
69 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs970610009 CA403128178 |
69 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs970610009 CA304883356 |
69 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9137725 rs753197292 |
69 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403412495 CA403128191 |
70 | D>G | No |
ClinGen TOPMed |
|
|
CA403128208 rs1437236252 |
71 | P>L | No |
ClinGen gnomAD |
|
|
rs1273766222 CA403128203 |
71 | P>S | No |
ClinGen gnomAD |
|
|
rs118064197 CA9137726 |
72 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490440461 CA403128213 |
72 | R>H | No |
ClinGen gnomAD |
|
|
CA403128229 rs1198267219 |
73 | W>* | No |
ClinGen gnomAD |
|
|
rs926372460 CA304883359 |
74 | D>H | No |
ClinGen TOPMed |
|
|
CA403128257 rs187442624 |
75 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187442624 CA9137728 |
75 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763590217 CA403128249 |
75 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168056010 CA403128258 |
76 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1053450225 CA304883366 |
78 | R>G | No |
ClinGen TOPMed |
|
|
rs1418145833 CA403128293 |
78 | R>L | No |
ClinGen gnomAD |
|
|
rs1306649927 CA403128343 |
82 | A>V | No |
ClinGen gnomAD |
|
|
rs547426439 CA9137731 |
83 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547426439 CA9137730 |
83 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403128376 rs1323284241 |
85 | A>G | No |
ClinGen gnomAD |
|
|
rs1257466889 CA403128414 |
88 | P>L | No |
ClinGen TOPMed |
|
|
rs1225053339 CA403128421 |
89 | P>Q | No |
ClinGen TOPMed |
|
|
CA403128434 rs1364352915 |
90 | S>C | No |
ClinGen TOPMed |
|
|
CA403128480 rs1270906936 |
93 | P>R | No |
ClinGen gnomAD |
|
|
CA403128471 rs1433151735 |
93 | P>S | No |
ClinGen gnomAD |
|
|
rs1293792554 CA403128502 |
94 | W>* | No |
ClinGen gnomAD |
|
|
CA403128489 CA9137733 rs79777490 |
94 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146892226 CA9137734 |
96 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146892226 CA304883374 |
96 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146892226 CA304883378 |
96 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599234839 CA403129520 |
97 | L>P | No |
ClinGen Ensembl |
|
|
rs1051771197 CA304883380 |
100 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA403129587 rs1051771197 |
100 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1448427477 CA403129646 |
101 | A>E | No |
ClinGen gnomAD |
|
|
CA9137736 rs781259766 |
102 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1305880200 CA403129651 |
102 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403129693 rs1191017978 |
103 | E>G | No |
ClinGen TOPMed |
|
|
CA403129675 rs1241024709 |
103 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1167292974 CA403129764 |
105 | T>M | No |
ClinGen gnomAD |
|
|
CA403129762 rs1167292974 |
105 | T>R | No |
ClinGen gnomAD |
|
|
rs1425813932 CA403129795 |
107 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1389011462 CA403129817 |
108 | M>K | No |
ClinGen gnomAD |
|
|
rs1163111068 CA403129813 |
108 | M>L | No |
ClinGen gnomAD |
|
|
CA403129849 rs1384137000 |
109 | Q>H | No |
ClinGen gnomAD |
|
|
CA403129865 rs749366219 |
110 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs749366219 CA9137737 |
110 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1433051111 CA403129876 |
111 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1433051111 CA403129878 |
111 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1317206205 CA403129897 |
112 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1243958232 CA403129908 |
112 | N>K | No |
ClinGen gnomAD |
|
|
CA403129902 rs1383517879 |
112 | N>S | No |
ClinGen gnomAD |
|
|
CA403129925 rs1231152125 |
114 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403129933 rs1263467925 |
114 | H>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 114 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263467925 CA403129934 |
114 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403130025 rs1184945126 |
118 | D>E | No |
ClinGen gnomAD |
|
|
rs889992713 CA304883396 |
119 | A>V | No |
ClinGen Ensembl |
|
|
rs866082486 CA304883399 |
120 | H>N | No |
ClinGen Ensembl |
|
|
rs139801882 CA9137742 |
121 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403130076 rs1187386384 |
122 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761165348 CA9137744 |
124 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9137746 rs538517381 |
129 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403130220 rs1388229834 |
130 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764762220 CA9137748 |
131 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137749 rs750030694 |
132 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403130259 rs1395391191 |
132 | Y>D | No |
ClinGen gnomAD |
|
|
rs1239567331 CA403130281 |
133 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1239567331 CA403130283 |
133 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA403130408 rs1228367095 |
137 | L>R | No |
ClinGen TOPMed |
|
|
rs751309195 CA304883415 |
137 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482620689 CA403130441 |
138 | P>L | No |
ClinGen gnomAD |
|
|
rs1377846847 CA403130414 |
138 | P>S | No |
ClinGen gnomAD |
|
|
rs1254747256 CA403130476 |
140 | R>G | No |
ClinGen gnomAD |
|
|
rs914894738 CA403130498 |
141 | T>N | No |
ClinGen TOPMed |
|
|
rs914894738 CA304883421 |
141 | T>S | No |
ClinGen TOPMed |
|
|
CA304883423 rs945088830 |
142 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs748126621 CA9137755 |
143 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748126621 CA403130520 |
143 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471739602 CA403130558 |
144 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1471739602 CA403130557 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1406968346 CA403130593 |
145 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9137756 rs372946119 |
145 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403130621 rs779144969 |
146 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746019982 CA9137758 |
146 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137757 rs779144969 |
146 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391893502 CA403130668 |
148 | A>S | No |
ClinGen gnomAD |
|
|
rs1391893502 CA403130667 |
148 | A>T | No |
ClinGen gnomAD |
|
|
rs747310281 CA9137761 |
152 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9137764 rs199911333 |
153 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403130846 rs1311227296 |
154 | R>C | No |
ClinGen gnomAD |
|
|
rs1311227296 CA403130844 |
154 | R>G | No |
ClinGen gnomAD |
|
|
rs1311227296 CA403130849 |
154 | R>S | No |
ClinGen gnomAD |
|
|
CA304883434 rs889323342 |
155 | D>E | No |
ClinGen TOPMed |
|
|
CA403130894 rs1388467614 |
155 | D>G | No |
ClinGen gnomAD |
|
|
CA9137766 rs762334385 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137767 rs764672077 |
156 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA403130925 rs1252547992 |
156 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403130946 rs1206419705 |
157 | L>V | No |
ClinGen gnomAD |
|
|
CA9137768 rs772717241 |
158 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403130963 rs1599235031 |
158 | P>T | No |
ClinGen Ensembl |
|
|
CA9137769 rs762593250 |
159 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9137770 rs765936455 |
161 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751275638 CA9137771 |
162 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9137772 rs754699907 |
162 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403131071 rs1174131305 |
163 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1174131305 CA403131076 |
163 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1462446860 CA403131107 |
164 | K>E | No |
ClinGen gnomAD |
|
|
CA304883438 rs1012205806 |
164 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9137773 rs767441923 |
166 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406594406 CA403131254 |
168 | P>L | No |
ClinGen gnomAD |
|
|
CA403131282 rs1295654013 |
170 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403131312 rs1367291858 |
171 | T>A | No |
ClinGen TOPMed |
|
|
rs752623852 CA9137774 |
171 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9137775 rs752623852 |
171 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA403131341 rs1297112446 |
172 | H>N | No |
ClinGen gnomAD |
|
|
CA403131362 rs1307495966 |
173 | Q>* | No |
ClinGen gnomAD |
|
|
CA403131404 rs1319956257 |
174 | A>G | No |
ClinGen TOPMed |
|
|
rs1274490633 CA403131388 |
174 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1274490633 CA403131385 |
174 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403131418 rs1457881892 |
175 | L>V | No |
ClinGen TOPMed |
|
|
CA9137779 rs758552794 |
178 | P>T | No |
ClinGen ExAC |
|
|
CA9137780 rs780104985 |
179 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747289650 CA9137781 |
180 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403131572 rs1263953742 |
181 | A>V | No |
ClinGen gnomAD |
|
|
rs776998418 CA9137783 |
182 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA403131610 rs1426468342 |
183 | P>L | No |
ClinGen gnomAD |
|
|
CA9137786 rs773767308 |
183 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403131615 rs1164037434 |
184 | Q>E | No |
ClinGen gnomAD |
|
|
rs1191558435 CA403131626 |
184 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9137787 rs762349342 |
185 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456064476 CA403131671 |
186 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 186 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246173531 CA403131691 |
187 | A>T | No |
ClinGen TOPMed |
|
|
rs1464987943 CA403131745 |
189 | S>G | No |
ClinGen TOPMed |
|
|
rs759238246 CA9137790 |
191 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363734910 CA403131858 |
192 | L>R | No |
ClinGen gnomAD |
|
|
rs1193627446 CA403132830 |
194 | G>V | No |
ClinGen TOPMed |
|
|
CA9137832 rs761825589 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9137833 rs766306975 |
197 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755109389 CA9137835 |
199 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs552737442 CA9137837 |
203 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9137836 rs552737442 |
203 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403132895 rs1457311361 |
204 | R>K | No |
ClinGen gnomAD |
|
|
CA9137839 rs778212136 |
206 | D>E | No |
ClinGen ExAC |
|
|
rs1446442758 CA403132922 |
206 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403132938 rs1300279901 |
207 | G>A | No |
ClinGen gnomAD |
|
|
rs1220116343 CA403132929 |
207 | G>R | No |
ClinGen TOPMed |
|
|
CA403132962 rs1293131933 |
209 | S>P | No |
ClinGen TOPMed |
|
|
rs1228044624 CA403132982 |
210 | Y>C | No |
ClinGen gnomAD |
|
|
CA9137842 rs771464530 |
211 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137841 rs771464530 |
211 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403133019 rs1342834309 |
212 | R>T | No |
ClinGen TOPMed |
|
|
CA9137843 rs745345973 |
213 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs959893852 CA304884373 |
215 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219930082 CA403133087 |
216 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440690378 CA403133115 |
218 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9137845 rs200940379 |
219 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403133154 rs1252280944 |
220 | P>L | No |
ClinGen gnomAD |
|
|
CA9137847 rs138148015 |
221 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9137846 rs138148015 |
221 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs578125199 CA9137848 |
222 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1270661040 CA403133180 |
222 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1473074942 CA403133192 |
223 | L>W | No |
ClinGen TOPMed |
|
|
CA9137850 rs765210526 |
225 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403133257 rs543672910 |
227 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9137851 rs543672910 |
227 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403133323 rs1298385588 |
228 | A>S | No |
ClinGen gnomAD |
|
|
CA403133339 rs1180021445 |
230 | S>P | No |
ClinGen TOPMed |
|
|
rs1356733794 CA403133359 |
231 | G>A | No |
ClinGen gnomAD |
|
|
CA9137879 rs141277600 |
231 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403133377 rs1208893768 |
232 | V>A | No |
ClinGen gnomAD |
|
|
CA403133367 rs1221874043 |
232 | V>M | No |
ClinGen TOPMed |
|
|
rs1287358894 CA403133408 |
234 | L>R | No |
ClinGen gnomAD |
|
|
CA9137880 rs780775883 |
236 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780775883 CA9137881 |
236 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137882 rs754499660 |
238 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9137883 rs199982930 |
239 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199982930 CA304884463 |
239 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747788149 CA9137884 |
241 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs145077335 CA9137886 |
244 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9137887 rs749146630 |
244 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137889 rs774321062 |
245 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760776068 CA9137890 |
246 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403133635 rs1013989335 |
251 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1013989335 CA304884478 |
251 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9137894 rs745311823 |
252 | Y>* | No |
ClinGen ExAC |
|
|
CA403133680 rs1316029776 |
254 | P>L | No |
ClinGen TOPMed |
|
|
rs776860888 CA9137898 |
255 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs776860888 CA9137897 |
255 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9137902 rs766975635 |
256 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9137901 rs484870 VAR_034664 |
256 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765574039 CA9137900 |
256 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs765574039 CA9137899 |
256 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs969675848 CA304884496 |
260 | D>N | No |
ClinGen TOPMed |
|
|
rs756973864 CA304884759 |
262 | Y>C | No |
ClinGen Ensembl |
|
|
CA304884761 rs926046642 |
263 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA403134985 rs1372203746 |
263 | D>Y | No |
ClinGen gnomAD |
|
|
rs1410264817 CA403135012 |
264 | K>T | No |
ClinGen gnomAD |
|
|
rs776266850 CA9137925 |
265 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279541813 CA403135048 |
266 | Q>* | No |
ClinGen TOPMed |
|
|
CA403135079 rs1221172086 |
267 | A>D | No |
ClinGen TOPMed |
|
|
rs1348317474 CA403135073 |
267 | A>S | No |
ClinGen gnomAD |
|
|
CA304884766 rs374380068 |
269 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs1217907989 CA403135288 |
276 | I>S | No |
ClinGen TOPMed |
|
|
CA9137927 rs143810135 |
277 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304884770 rs991518668 |
277 | R>H | No |
ClinGen Ensembl |
|
|
rs753520918 CA9137928 |
278 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9137929 rs756993335 |
278 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9137930 rs148157401 |
279 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1344898490 CA403135401 |
281 | G>S | No |
ClinGen gnomAD |
|
|
rs745748012 CA403135436 |
282 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9137931 rs745748012 |
282 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA403135445 rs1274349105 |
282 | L>P | No |
ClinGen gnomAD |
|
|
rs758261623 CA9137932 |
284 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9137934 rs201352391 |
284 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201352391 CA9137933 |
284 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764943136 CA304884784 |
285 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9137935 rs770039022 |
290 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs749544184 CA9137937 |
291 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773528740 CA9137936 |
291 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771366571 CA9137938 |
292 | H>N | No |
ClinGen ExAC |
|
|
rs1167797358 CA403135693 |
292 | H>P | No |
ClinGen gnomAD |
|
|
rs774585242 CA9137939 |
293 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9137941 rs370927165 |
294 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9137940 rs760002051 |
294 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403135741 rs1471532463 |
294 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9137942 rs776103934 |
296 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs763611605 CA9137944 |
297 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs181052021 CA9137945 |
299 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766219812 CA9137967 |
300 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403136120 rs1321414695 |
302 | V>I | No |
ClinGen gnomAD |
|
|
rs751485317 CA9137968 |
303 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA403136197 CA304884857 rs560189907 |
305 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs532483506 CA9137970 |
308 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532483506 CA403136250 |
308 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1000836036 CA304884863 |
311 | S>W | No |
ClinGen Ensembl |
|
|
rs1237744765 CA403136321 |
312 | H>R | No |
ClinGen TOPMed |
|
|
rs778961869 CA9137973 |
313 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746123932 CA9137974 |
317 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9137976 rs780468124 |
318 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747438086 CA9137977 |
318 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156276240 CA403136420 |
318 | W>G | No |
ClinGen gnomAD |
|
|
CA403136427 rs780468124 |
318 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403136418 rs1156276240 |
318 | W>R | No |
ClinGen gnomAD |
|
|
CA304884879 rs373142957 |
319 | C>Y | No |
ClinGen gnomAD |
|
|
rs769136605 CA9137978 |
320 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769136605 CA403136464 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377025050 CA403136471 |
321 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9137979 rs377025050 |
321 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9137981 rs568541151 |
323 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9137982 rs772695446 |
324 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9137983 rs369496657 |
324 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766022736 CA9137984 |
327 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759464518 CA9137986 |
328 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891661693 CA304884889 |
330 | Q>R | No |
ClinGen TOPMed |
|
|
rs767529611 CA9137987 |
331 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 332 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403136666 rs1379768036 |
332 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403136681 rs1599237789 |
333 | Y>H | No |
ClinGen Ensembl |
|
|
CA403136815 rs759362306 |
336 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9138005 rs759362306 |
336 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409639355 CA403136826 |
337 | P>L | No |
ClinGen gnomAD |
|
|
rs767439662 CA9138008 |
338 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767439662 CA9138007 |
338 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760666310 CA9138009 |
339 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9138010 rs764003462 |
341 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444017088 CA403136931 |
344 | S>R | No |
ClinGen TOPMed |
|
|
rs750501274 CA9138011 |
345 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403136936 rs750501274 |
345 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1193742273 CA403136961 |
346 | H>Q | No |
ClinGen gnomAD |
|
|
rs1341151749 CA403136956 |
346 | H>R | No |
ClinGen gnomAD |
|
|
rs758454551 CA9138012 |
346 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403136974 rs1599238041 |
347 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 348 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751813190 CA9138014 |
349 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9138015 rs138895984 |
350 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 350 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866810181 CA304884988 |
353 | Q>* | No |
ClinGen TOPMed |
|
|
rs1038633206 CA304884990 |
353 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9138018 rs142745778 |
354 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142745778 CA9138017 |
354 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403137166 rs1568390302 |
359 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA304884996 rs1013003550 |
359 | G>R | No |
ClinGen Ensembl |
|
|
rs1424681010 CA403137192 |
360 | E>D | No |
ClinGen TOPMed |
|
|
CA403137235 rs1416315550 |
363 | L>V | No |
ClinGen gnomAD |
|
|
rs1599238094 CA403137251 |
364 | L>F | No |
ClinGen Ensembl |
|
|
CA9138023 rs147386689 |
365 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1024362543 CA9138024 |
366 | R>H | No |
ClinGen TOPMed |
|
|
CA304885005 rs1024362543 |
366 | R>P | No |
ClinGen TOPMed |
|
|
rs1392297396 CA403137277 |
366 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9138027 rs775420227 |
368 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9138026 rs771922621 |
368 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs982817653 CA304885015 |
372 | M>T | No |
ClinGen Ensembl |
|
|
rs139440032 CA9138029 |
372 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9138030 rs776471626 |
373 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9138031 rs776471626 |
373 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370108133 CA403137474 |
374 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9138032 rs370108133 |
374 | S>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403137511 rs1270758468 |
375 | D>E | No |
ClinGen gnomAD |
|
|
rs751723511 CA9138033 |
376 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446925576 CA403137599 |
379 | S>P | No |
ClinGen gnomAD |
|
|
CA304885025 rs963033044 |
382 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs148678708 CA9138042 |
385 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403137852 rs967144354 |
387 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA304885030 rs967144354 |
387 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304885032 rs975885488 |
387 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9138044 rs745438065 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA304885035 rs745438065 |
388 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs771836741 CA9138045 |
389 | N>T | No |
ClinGen ExAC |
|
|
rs1413811976 CA403137982 |
391 | H>L | No |
ClinGen gnomAD |
|
|
rs1291108325 CA403137997 |
391 | H>Q | No |
ClinGen gnomAD |
|
|
CA9138046 rs775053037 |
392 | L>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228542951 CA403138029 |
393 | Q>K | No |
ClinGen gnomAD |
|
|
rs1477204368 CA403138067 |
394 | Q>R | No |
ClinGen TOPMed |
|
|
CA403138121 rs1350608587 |
396 | Y>C | No |
ClinGen gnomAD |
|
|
rs3826736 CA403138113 |
396 | Y>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9138047 VAR_034665 rs3826736 |
396 | Y>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403138132 rs1203838030 |
397 | L>M | No |
ClinGen gnomAD |
|
|
rs768369221 CA9138048 |
398 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403138168 rs1187655247 |
399 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403138166 rs1187655247 |
399 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766379859 CA9138051 |
400 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151193157 CA9138050 |
400 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs544681496 CA9138052 |
401 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403138196 rs1599238209 |
401 | T>P | No |
ClinGen Ensembl |
|
|
CA9138055 rs752906176 |
403 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9138141 rs139353794 |
404 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9138142 rs748396439 |
405 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304885379 rs889036809 |
409 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 412 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403139000 rs1353027952 |
412 | K>R | No |
ClinGen gnomAD |
|
|
CA403139147 rs1436860392 |
416 | P>R | No |
ClinGen gnomAD |
|
|
rs1201903947 CA403139173 |
417 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763434889 CA9138145 |
418 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1194750995 CA403139235 |
420 | P>S | No |
ClinGen gnomAD |
|
|
rs774966835 CA9138147 |
421 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774966835 CA403139272 |
421 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403139275 rs774966835 |
421 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758931544 CA9138148 |
423 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755756800 CA9138151 |
424 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763789321 CA9138152 |
426 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753605242 CA9138153 |
427 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403139476 rs1599239084 |
428 | M>I | No |
ClinGen Ensembl |
|
|
CA9138154 rs374078224 |
429 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298088759 CA403139505 |
430 | Q>* | No |
ClinGen TOPMed |
|
|
CA9138157 rs745837907 |
431 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9138156 rs745837907 |
431 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs140617892 CA9138155 |
431 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs475923 VAR_034666 CA9138184 |
434 | Y>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1159120349 CA403140958 |
435 | S>N | No |
ClinGen gnomAD |
|
|
CA9138186 rs145194803 |
437 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768177555 CA403141049 |
439 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768177555 CA9138187 |
439 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9138188 rs776088007 |
440 | P>T | No |
ClinGen ExAC |
|
|
CA403141102 rs1290928857 |
442 | G>R | No |
ClinGen gnomAD |
|
|
rs762891241 CA9138192 |
444 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs149206817 CA9138191 |
444 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs888792115 CA304885789 |
445 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403141158 rs888792115 |
445 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9138194 rs751582045 |
445 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9138195 rs751582045 |
445 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888792115 CA403141155 |
445 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753928641 CA9138197 |
446 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA403141173 rs777924216 |
446 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9138196 rs777924216 |
446 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757485099 CA9138198 |
448 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs762267164 | 451 | Y>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9138203 rs201554277 CA9138204 |
453 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139224067 CA9138205 |
454 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403141383 rs1433748807 |
458 | K>R | No |
ClinGen gnomAD |
|
|
rs1310834905 CA403141415 |
460 | Q>* | No |
ClinGen TOPMed |
|
|
rs200898143 CA9138207 |
460 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304885814 rs753071531 |
461 | G>D | No |
ClinGen TOPMed |
|
|
CA403141456 rs1391521324 |
463 | A>T | No |
ClinGen gnomAD |
|
|
rs1327595677 CA403141483 |
465 | L>V | No |
ClinGen gnomAD |
|
|
rs186599277 CA9138208 |
466 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9138209 rs747672079 |
470 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403141685 rs1362744212 |
471 | Q>P | No |
ClinGen TOPMed |
|
|
rs1306108691 CA403141696 |
472 | E>D | No |
ClinGen gnomAD |
|
|
CA403141689 rs1195908454 |
472 | E>K | No |
ClinGen gnomAD |
|
|
CA9138210 rs769466270 |
473 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs560347247 CA304885821 |
474 | F>S | No |
ClinGen Ensembl |
|
|
rs762800763 CA9138212 |
475 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA9138211 rs201523423 |
475 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141790796 CA9138213 |
476 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141790796 CA403141717 |
476 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304885833 rs200381238 |
483 | R>C | No |
ClinGen Ensembl |
|
|
CA9138215 rs147092817 |
483 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9138217 rs137985193 |
484 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403141774 rs143529684 |
486 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143529684 CA9138219 |
486 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403141804 rs1462116724 |
490 | D>H | No |
ClinGen gnomAD |
|
|
CA304885845 rs867992436 |
491 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304885848 rs150499259 |
493 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs1166820662 CA403141823 |
493 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403141828 rs1445252720 |
494 | P>H | No |
ClinGen gnomAD |
|
|
CA9138220 rs778474427 |
494 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 495 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241821900 CA403141836 |
495 | Q>L | No |
ClinGen TOPMed |
|
|
rs372030854 CA403141842 |
496 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372030854 CA304885853 |
496 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9138222 rs1133378 VAR_034667 |
497 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403141852 rs747440151 |
498 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747440151 CA9138223 |
498 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747440151 CA403141853 |
498 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9138225 VAR_034668 rs608144 |
500 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403141867 rs608144 |
500 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9138232 rs748964619 |
502 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139289834 CA9138230 |
502 | P>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA9138231 rs139289834 |
502 | P>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs770786511 CA9138233 |
503 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA403141885 rs1325551661 |
503 | S>R | No |
ClinGen gnomAD |
|
|
CA9138234 rs774287138 |
504 | Q>* | No |
ClinGen ExAC |
No associated diseases with Q8NA69
No regional properties for Q8NA69
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8NA69 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATGALLPCS | RPCPMSRLDF | LKASHFSLGP | DLRLHEGTMR | TTSHRDFAYP | AATREPPSLQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPPALLFPMD | PRWDREERVS | EAHRAFPPPS | TPPWELLQAQ | ARERTLAMQA | GNLHLHEDAH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AGIGLSNAHA | AYGWPELPAR | TRERIRGARL | IFDRDSLPPG | DRDKLRIPPT | THQALFPPHD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARPQPRAPSC | HLGGPNTLKW | DYTRQDGTSY | QRQFQALPGP | PALRCKRASS | GVELGDCKIS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YGSTCSEQKQ | AYRPQDLPED | RYDKAQATAH | IHCVNIRPGD | GLFRDRTTKA | EHFYAREPEP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FVLHHDQTPE | SHILKGNWCP | GPGSLDTFMQ | YFYGQPPPPT | QPPSRHVPHE | KLQSHVTLGE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PKLLKRFFKT | TMGSDYCPSE | WRQVQKAPNL | HLQQSYLPRG | TGEFDFLTMN | QKMLKPHRTP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PAPVTEEMLQ | RCKYSHMEPP | LGGLRFFSTQ | YKDEFPFKYQ | GPAALRLKNP | QEGFVPLGTP |
| 490 | 500 | ||||
| HQRGCREKID | PLVPQPPMYL | CPSQQ |