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 Q2M3V2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q2M3V2-F1 | Predicted | AlphaFoldDB |
564 variants for Q2M3V2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1464151965 CA360950891 |
4 | A>V | No |
ClinGen gnomAD |
|
|
CA360950911 rs1290236197 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs1362304605 CA360950928 |
6 | A>V | No |
ClinGen gnomAD |
|
|
rs556179752 CA3407269 |
7 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360950975 rs1581221739 |
8 | A>G | No |
ClinGen Ensembl |
|
|
rs755612534 CA3407271 |
13 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360951037 rs1311652716 |
14 | V>L | No |
ClinGen gnomAD |
|
|
CA360951103 rs1262706297 |
17 | A>E | No |
ClinGen gnomAD |
|
|
rs1467679766 CA360951096 |
17 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3407274 rs758435888 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA360951189 rs1334781974 |
22 | F>S | No |
ClinGen gnomAD |
|
|
rs1406068282 CA360951226 |
23 | L>P | No |
ClinGen gnomAD |
|
|
rs1430945725 CA360951250 |
24 | Q>R | No |
ClinGen gnomAD |
|
|
CA360951269 rs1160734788 |
25 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1345358048 CA360951276 |
25 | E>G | No |
ClinGen gnomAD |
|
|
CA360951265 rs1160734788 |
25 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA360951317 rs1318249246 |
27 | G>S | No |
ClinGen gnomAD |
|
|
CA3407276 rs747242799 |
28 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1217532745 CA360951372 |
30 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360951369 rs1217532745 |
30 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360951368 CA360951367 rs1365481628 |
30 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3407278 rs375273970 |
31 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3407279 rs375273970 |
31 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360951407 rs1228041238 |
32 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3407280 rs769519245 |
33 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360951442 rs1301594072 |
34 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1470085100 CA360951431 |
34 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3407281 rs561764738 |
34 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360951484 rs1581221809 |
35 | L>P | No |
ClinGen Ensembl |
|
|
CA360951444 rs1246626304 |
35 | L>V | No |
ClinGen gnomAD |
|
|
rs1561442310 CA562784937 |
38 | R>C | No |
ClinGen Ensembl |
|
|
CA360951656 rs1221219645 |
41 | P>L | No |
ClinGen gnomAD |
|
|
CA360951679 rs763554127 |
42 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3407283 rs763554127 |
42 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA127285619 rs958660066 |
44 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA127285620 rs1013188144 |
45 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360951783 rs1261984951 |
47 | D>G | No |
ClinGen gnomAD |
|
|
rs1299916078 CA360951776 |
47 | D>H | No |
ClinGen gnomAD |
|
|
rs1299916078 CA360951779 |
47 | D>Y | No |
ClinGen gnomAD |
|
|
rs1240610343 CA360951823 |
48 | P>R | No |
ClinGen TOPMed |
|
|
CA360951900 COSM4159410 rs1337302192 |
51 | R>P | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA360951908 rs1047983976 |
52 | A>S | No |
ClinGen gnomAD |
|
|
CA127285626 rs1047983976 |
52 | A>T | No |
ClinGen gnomAD |
|
|
rs1320401881 CA360951914 |
52 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360951923 rs1207267704 |
53 | A>S | No |
ClinGen gnomAD |
|
|
rs1234014506 CA360951959 |
54 | R>L | No |
ClinGen gnomAD |
|
|
CA127285628 rs1021861191 |
56 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1179474228 CA360951995 |
56 | D>H | No |
ClinGen gnomAD |
|
|
rs773891772 CA3407284 |
57 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773891772 CA360952055 |
57 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360952038 rs1240232140 |
57 | R>S | No |
ClinGen gnomAD |
|
|
rs977977517 CA127285634 |
61 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1369945871 CA360952156 |
62 | V>F | No |
ClinGen gnomAD |
|
|
rs954609280 CA360952248 |
66 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs369609147 CA127285646 |
66 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3407287 rs369609147 |
66 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954609280 CA127285649 |
66 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360952257 rs1561442397 |
67 | V>M | No |
ClinGen Ensembl |
|
|
CA360952300 rs1407135391 |
68 | V>L | No |
ClinGen TOPMed |
|
|
rs1377399185 CA360952319 |
69 | K>R | No |
ClinGen gnomAD |
|
|
CA360952386 rs1216727265 |
71 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1163132914 CA360952422 |
73 | G>D | No |
ClinGen TOPMed |
|
|
CA127285653 rs886293972 |
74 | V>I | No |
ClinGen gnomAD |
|
|
CA360952447 rs1281845991 |
75 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1470107976 CA360952479 |
76 | F>L | No |
ClinGen TOPMed |
|
|
CA3407288 rs372845474 |
81 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360952543 rs1247776161 |
81 | K>Q | No |
ClinGen TOPMed |
|
|
CA3407289 rs377070939 |
82 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1221202745 CA360952602 |
83 | P>S | No |
ClinGen TOPMed |
|
|
CA3407290 rs368749353 |
84 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360952608 rs1287980267 |
84 | R>W | No |
ClinGen TOPMed |
|
|
CA3407292 rs532960429 |
85 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564031465 CA3407291 |
85 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360952734 rs1294480320 |
89 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1581221959 CA360952769 |
90 | P>H | No |
ClinGen Ensembl |
|
|
rs777771129 CA360952816 |
92 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777771129 CA3407295 |
92 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777771129 CA3407296 |
92 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3407297 rs114865630 |
94 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360952854 rs1561442461 |
94 | G>V | No |
ClinGen Ensembl |
|
|
CA127285766 rs531945533 |
95 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA127285802 rs376888433 |
96 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376888433 CA3407299 |
96 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376888433 TCGA novel CA127285797 |
96 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1213414989 CA360952900 |
98 | A>T | No |
ClinGen TOPMed |
|
|
CA360952922 rs1306338317 |
99 | A>T | No |
ClinGen gnomAD |
|
|
CA360952941 rs866458167 |
100 | A>G | No |
ClinGen gnomAD |
|
|
CA127285816 rs866458167 |
100 | A>V | No |
ClinGen gnomAD |
|
|
rs1199454820 CA360952955 |
101 | Q>H | No |
ClinGen gnomAD |
|
|
CA360952960 rs1276051653 |
102 | P>T | No |
ClinGen gnomAD |
|
|
CA360953016 rs1229670653 |
103 | S>W | No |
ClinGen gnomAD |
|
|
CA360953100 rs1279255474 |
106 | T>A | No |
ClinGen TOPMed |
|
|
CA360953115 rs1247221583 |
107 | S>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 107 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360953118 rs1247221583 |
107 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA360953131 rs1316261228 |
108 | T>A | No |
ClinGen gnomAD |
|
|
rs956210588 CA360953140 |
108 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs956210588 CA127285819 |
108 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 109 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360953182 rs1478392658 |
110 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1172123840 CA360953204 |
112 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360953206 rs1172123840 |
112 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1402668119 CA360953231 |
113 | S>N | No |
ClinGen gnomAD |
|
|
CA360953238 rs1321590708 |
113 | S>R | No |
ClinGen gnomAD |
|
|
CA127285821 rs755223724 |
114 | A>P | No |
ClinGen Ensembl |
|
|
rs755223724 CA127285820 |
114 | A>T | No |
ClinGen Ensembl |
|
|
rs1388339177 CA360953276 |
116 | A>S | No |
ClinGen gnomAD |
|
|
rs1433402882 CA360953283 |
116 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3407301 rs375941815 |
117 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3407302 rs749233974 |
117 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs768626499 CA360953304 |
118 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs974462725 CA127285843 |
118 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3407303 rs768626499 |
118 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA360953326 rs1267951107 |
120 | P>Q | No |
ClinGen gnomAD |
|
|
CA360953321 rs1215401459 |
120 | P>S | No |
ClinGen gnomAD |
|
|
CA3407306 rs767081988 |
121 | P>H | No |
ClinGen ExAC |
|
|
CA3407307 rs767081988 |
121 | P>L | No |
ClinGen ExAC |
|
|
rs761415931 CA3407305 |
121 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs753089059 CA3407310 |
122 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs765566386 CA3407309 |
122 | L>W | No |
ClinGen ExAC |
|
|
CA360953354 rs1411593159 |
123 | V>A | No |
ClinGen gnomAD |
|
|
CA360953349 rs1160142740 |
123 | V>F | No |
ClinGen gnomAD |
|
|
CA360953370 rs40274 |
124 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_059125 CA3407313 rs40274 |
124 | R>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360953364 rs764665445 |
124 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs757350864 CA360953376 |
125 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3407314 rs757350864 |
125 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs750684302 CA3407316 |
126 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750684302 CA360953394 |
126 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360953392 rs1409945442 |
126 | P>S | No |
ClinGen gnomAD |
|
|
rs756307361 CA3407317 |
127 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1234840068 CA360953404 |
127 | R>W | No |
ClinGen gnomAD |
|
|
CA360953420 rs1208011919 |
128 | P>T | No |
ClinGen gnomAD |
|
|
CA360953426 CA360953425 rs1252632700 |
129 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3407319 rs749107186 |
130 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407318 rs779772836 |
130 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs186130812 COSM3696906 CA3407321 |
131 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768272968 CA360953470 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768272968 CA3407320 |
131 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA360953509 rs1369435084 |
133 | G>V | No |
ClinGen gnomAD |
|
|
rs748189146 CA3407322 |
134 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429808078 CA360953547 |
135 | L>P | No |
ClinGen gnomAD |
|
|
rs771744776 CA3407323 |
135 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1416277067 CA360953592 |
138 | P>S | No |
ClinGen gnomAD |
|
|
rs1367888395 CA360953610 |
139 | T>A | No |
ClinGen gnomAD |
|
|
CA127285995 rs1056784623 |
139 | T>I | No |
ClinGen gnomAD |
|
|
CA360953620 rs1056784623 |
139 | T>R | No |
ClinGen gnomAD |
|
|
CA360953661 rs1465697329 |
142 | Q>R | No |
ClinGen TOPMed |
|
|
rs763388090 CA3407328 |
144 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3407330 rs752091901 |
145 | P>L | No |
ClinGen ExAC |
|
|
CA360953743 rs1342803689 |
145 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs556175134 CA360953816 |
146 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360953805 CA3407333 rs539442296 |
146 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556175134 CA3407334 |
146 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3407336 rs780331107 |
147 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs756359905 CA3407335 |
147 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756359905 CA360953826 |
147 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs754827902 CA3407338 |
148 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199141310 CA360953877 |
148 | P>L | No |
ClinGen TOPMed |
|
| rs749747149 | 148 | P>R | Variant assessed as Somatic; 0.0003337 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754827902 CA360953871 |
148 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360953886 rs1411191509 |
149 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA127286050 rs1017292253 |
151 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA360953989 rs1368187208 |
153 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360954002 rs1436093556 |
154 | Q>R | No |
ClinGen gnomAD |
|
|
rs576267507 CA127286055 |
155 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3407339 rs576267507 |
155 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360954041 rs1401132725 |
156 | P>L | No |
ClinGen gnomAD |
|
|
CA3407341 CA360954046 rs540557317 |
157 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360954060 rs1365793698 |
158 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360954096 rs777489937 |
159 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407342 rs777489937 |
159 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360954115 rs1340105895 |
161 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759070592 CA3407346 |
162 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA360954148 rs1483053334 |
163 | P>S | No |
ClinGen gnomAD |
|
|
CA360954190 rs1199020426 |
164 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360954187 rs1199020426 |
164 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3407348 rs774676243 |
165 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA127286104 rs1000198572 |
166 | P>L | No |
ClinGen TOPMed |
|
|
rs1178988601 CA360954342 |
170 | L>P | No |
ClinGen TOPMed |
|
|
rs1441541559 CA360954359 |
171 | A>G | No |
ClinGen TOPMed |
|
|
CA360954388 rs1188458255 |
173 | A>T | No |
ClinGen gnomAD |
|
|
rs1388903796 CA360954406 |
173 | A>V | No |
ClinGen gnomAD |
|
|
rs1434384590 CA360954420 |
174 | T>I | No |
ClinGen gnomAD |
|
|
CA360954430 rs768009972 |
175 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407350 rs768009972 |
175 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407349 rs762366962 |
175 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483497372 CA360954455 |
177 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1581222251 CA360954535 |
180 | D>G | No |
ClinGen Ensembl |
|
|
CA360954565 rs1242755047 |
181 | A>T | No |
ClinGen TOPMed |
|
|
rs1334528251 CA360954591 |
181 | A>V | No |
ClinGen TOPMed |
|
|
rs1318459910 CA360954597 |
182 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs373926973 CA3407353 |
182 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360954635 rs1311782415 |
183 | P>L | No |
ClinGen gnomAD |
|
|
rs1302072255 CA360954625 |
183 | P>S | No |
ClinGen gnomAD |
|
|
CA3407354 rs754125257 |
188 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407355 rs755128478 |
188 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407356 rs765178120 |
189 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407357 rs752533705 |
190 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360954737 rs752533705 COSM1541423 |
190 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758197852 CA3407358 |
191 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269616889 CA360954772 |
191 | A>V | No |
ClinGen TOPMed |
|
|
CA3407360 rs777864240 |
192 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777864240 CA3407359 |
192 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431006040 CA360954800 |
193 | S>L | No |
ClinGen gnomAD |
|
|
rs1163333687 CA360954808 |
194 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360954817 rs1163333687 |
194 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360954804 rs1443206392 |
194 | P>T | No |
ClinGen gnomAD |
|
|
rs756822204 CA3407361 |
195 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360954860 rs1348937452 |
196 | S>C | No |
ClinGen TOPMed |
|
|
rs780537105 CA3407362 |
196 | S>P | No |
ClinGen ExAC |
|
|
CA360954891 rs367784802 |
198 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367784802 CA3407363 |
198 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360954913 rs1156697811 |
199 | P>S | No |
ClinGen gnomAD |
|
|
CA3407366 rs748519773 |
200 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1437140735 CA360954955 |
200 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs769319542 CA3407365 |
200 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769319542 CA3407364 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437140735 CA360954945 |
200 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs948731588 CA127286200 |
201 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360954967 rs1366969556 |
201 | A>T | No |
ClinGen gnomAD |
|
|
rs948731588 CA360955001 |
201 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773734604 CA3407368 |
202 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407367 rs772367014 |
202 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360955038 rs920218375 |
203 | P>A | No |
ClinGen TOPMed |
|
|
rs1228099522 CA360955072 |
203 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1228099522 CA360955060 |
203 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA127286229 rs920218375 |
203 | P>S | No |
ClinGen TOPMed |
|
|
CA360955090 CA360955081 rs1323978847 |
204 | G>R | No |
ClinGen gnomAD |
|
|
CA3407370 rs766524715 |
205 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA360955150 rs1183791671 |
206 | G>A | No |
ClinGen gnomAD |
|
|
CA360955151 rs1183791671 |
206 | G>E | No |
ClinGen gnomAD |
|
|
CA3407371 rs776556891 |
206 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs983188355 CA127286247 |
207 | A>G | No |
ClinGen Ensembl |
|
|
rs765558609 CA3407373 |
210 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127286253 rs907667125 |
210 | G>R | No |
ClinGen Ensembl |
|
|
CA3407374 rs752907820 |
213 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415716740 CA360956290 |
214 | Q>K | No |
ClinGen gnomAD |
|
|
rs1405789356 CA360956299 |
214 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1309943681 CA360956337 |
216 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs904482936 CA127286293 |
216 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs939165478 CA127286328 |
217 | C>Y | No |
ClinGen Ensembl |
|
|
CA360956351 rs1196056853 |
218 | M>L | No |
ClinGen TOPMed |
|
|
rs1445474406 CA360956371 |
219 | L>R | No |
ClinGen TOPMed |
|
|
rs1338669365 CA360956383 |
220 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360956376 rs1351299805 |
220 | P>S | No |
ClinGen gnomAD |
|
|
CA3407377 rs758289575 |
221 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407378 rs575992862 |
222 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA360956411 rs1229321418 |
223 | C>R | No |
ClinGen gnomAD |
|
|
CA360956425 rs1289780494 |
224 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1031900654 CA127286358 |
225 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs992035367 CA360956443 |
225 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA127286363 rs992035367 |
225 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360956435 rs1031900654 |
225 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751329151 CA3407379 |
226 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1278465455 CA360956448 |
226 | A>S | No |
ClinGen TOPMed |
|
|
CA360956450 rs751329151 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3407380 rs757025460 |
227 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA360956459 rs1473001250 |
227 | P>S | No |
ClinGen gnomAD |
|
|
rs1411450848 CA360956466 |
228 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1451288813 CA360956489 |
229 | T>M | No |
ClinGen gnomAD |
|
|
CA360956497 rs1371222328 |
230 | L>P | No |
ClinGen gnomAD |
|
|
rs1429238885 CA360956500 |
231 | R>S | No |
ClinGen gnomAD |
|
|
CA360956526 rs1361181472 |
233 | R>Q | No |
ClinGen gnomAD |
|
|
rs541082078 CA3407381 |
233 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360956539 rs1449141570 |
234 | A>V | No |
ClinGen gnomAD |
|
|
rs1283973555 CA360956576 |
237 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 237 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3407383 rs755830198 |
239 | L>P | No |
ClinGen ExAC |
|
|
CA360956607 rs1299054900 |
240 | R>C | No |
ClinGen gnomAD |
|
|
rs779523547 CA3407384 |
240 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407385 rs748842935 |
241 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360956618 rs1225629105 |
241 | R>W | No |
ClinGen gnomAD |
|
|
rs772533477 CA3407386 |
245 | E>* | No |
ClinGen ExAC |
|
|
rs1235547299 CA360956698 |
247 | P>Q | No |
ClinGen gnomAD |
|
|
CA127286482 rs1017342479 |
248 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360956710 rs1017342479 |
248 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA360956715 rs964428880 |
248 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA127286498 rs757428162 |
249 | P>L | No |
ClinGen gnomAD |
|
|
CA360956722 rs1448929530 |
249 | P>S | No |
ClinGen gnomAD |
|
|
rs1458586903 CA360956731 |
250 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 250 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427443864 CA360956762 |
252 | S>F | No |
ClinGen gnomAD |
|
|
rs1415283926 CA360956770 |
253 | P>L | No |
ClinGen gnomAD |
|
|
rs994557985 CA127286500 |
254 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA360956823 rs1391173982 |
258 | R>P | No |
ClinGen gnomAD |
|
|
CA360956820 rs1337060316 |
258 | R>W | No |
ClinGen TOPMed |
|
|
rs1276137997 CA360956900 |
263 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747344789 CA3407388 |
266 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1330949725 CA360956940 |
267 | G>D | No |
ClinGen gnomAD |
|
|
CA127286547 rs983791595 |
268 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3407390 rs777122952 |
270 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA360956987 rs1248547182 |
271 | G>V | No |
ClinGen gnomAD |
|
|
rs1427543433 CA360957001 |
272 | P>L | No |
ClinGen gnomAD |
|
|
CA360956995 rs1427543433 |
272 | P>Q | No |
ClinGen gnomAD |
|
|
rs1172179238 CA360956993 |
272 | P>T | No |
ClinGen gnomAD |
|
|
CA360957008 rs1160385975 |
273 | G>D | No |
ClinGen gnomAD |
|
|
rs563165682 CA127286589 |
273 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA360957020 rs1381047483 |
274 | R>H | No |
ClinGen gnomAD |
|
|
rs1326172732 CA360957034 |
275 | S>Y | No |
ClinGen gnomAD |
|
|
CA360957037 rs1331150662 |
276 | P>T | No |
ClinGen gnomAD |
|
|
rs1435219158 CA360957055 |
278 | L>P | No |
ClinGen gnomAD |
|
|
CA360957060 rs1351967772 |
279 | R>M | No |
ClinGen gnomAD |
|
|
CA360957063 rs1228714260 |
279 | R>S | No |
ClinGen gnomAD |
|
|
rs1267289274 CA360957067 |
280 | R>H | No |
ClinGen gnomAD |
|
|
CA360957069 rs1267289274 |
280 | R>L | No |
ClinGen gnomAD |
|
|
CA360957081 rs1183365952 |
282 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 282 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290552539 CA360957086 |
283 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1290552539 CA360957084 |
283 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1271881621 CA360957097 |
284 | A>S | No |
ClinGen TOPMed |
|
|
rs1452247623 CA360957104 |
284 | A>V | No |
ClinGen gnomAD |
|
|
CA3407392 rs770191684 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770191684 CA127286659 |
285 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA360957123 rs1210119042 |
286 | P>L | No |
ClinGen TOPMed |
|
|
CA127286665 rs925966593 |
287 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA127286670 rs934663149 |
287 | R>H | No |
ClinGen TOPMed |
|
|
rs1473697508 CA360957133 |
288 | L>Q | No |
ClinGen gnomAD |
|
|
rs1452139189 CA360957158 |
291 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs57021902 CA127286677 |
291 | P>H | No |
ClinGen gnomAD |
|
|
CA360957164 rs57021902 |
291 | P>L | No |
ClinGen gnomAD |
|
|
rs1452139189 CA360957160 |
291 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360957177 CA360957179 rs1335194575 |
292 | D>E | No |
ClinGen TOPMed |
|
|
rs1404186521 CA360957176 |
292 | D>V | No |
ClinGen gnomAD |
|
|
rs548616546 CA127286683 |
293 | A>D | No |
ClinGen 1000Genomes |
|
|
rs1363934745 CA360957192 |
294 | E>Q | No |
ClinGen TOPMed |
|
|
rs1328005775 CA360957204 |
295 | E>* | No |
ClinGen gnomAD |
|
|
CA3407394 rs527880489 |
295 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1157293298 CA360957223 |
296 | L>F | No |
ClinGen TOPMed |
|
|
rs1470058022 CA360957229 |
297 | P>S | No |
ClinGen TOPMed |
|
|
CA360957236 rs1338975348 |
298 | A>P | No |
ClinGen gnomAD |
|
|
rs1224260113 CA360957251 |
299 | A>V | No |
ClinGen gnomAD |
|
|
rs1333734023 CA360957260 |
300 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1221470848 CA360957273 |
301 | P>L | No |
ClinGen TOPMed |
|
|
rs1284692570 CA360957267 |
301 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360957283 rs1317249569 |
302 | P>L | No |
ClinGen TOPMed |
|
|
rs1221756327 CA360957307 |
304 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360957335 rs1484105394 |
306 | P>L | No |
ClinGen gnomAD |
|
|
rs1039182216 CA127286698 |
309 | P>T | No |
ClinGen TOPMed |
|
|
rs1401020287 CA360957408 |
311 | E>D | No |
ClinGen TOPMed |
|
|
rs1249136038 CA360957441 |
313 | E>* | No |
ClinGen gnomAD |
|
|
CA127286700 rs536894111 |
316 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs536894111 CA360957502 |
316 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1369488788 CA360957531 |
318 | T>A | No |
ClinGen gnomAD |
|
|
CA360957540 rs1316644406 |
318 | T>I | No |
ClinGen TOPMed |
|
|
rs1316644406 CA360957535 |
318 | T>N | No |
ClinGen TOPMed |
|
|
CA360957562 rs1472778737 |
320 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs900646167 CA127286706 |
321 | G>S | No |
ClinGen TOPMed |
|
|
rs1561443144 CA360957591 |
322 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360957633 rs1429874150 |
324 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360957636 rs1426807653 |
325 | H>D | No |
ClinGen TOPMed |
|
|
CA3407396 rs114635812 |
325 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213377550 CA360957659 |
326 | Q>H | No |
ClinGen TOPMed |
|
|
rs950458785 CA360957658 |
326 | Q>L | No |
ClinGen TOPMed |
|
|
rs950458785 CA127286726 |
326 | Q>P | No |
ClinGen TOPMed |
|
|
rs1446412397 CA360957681 |
328 | H>R | No |
ClinGen TOPMed |
|
|
rs1334569469 CA360957696 |
329 | G>R | No |
ClinGen gnomAD |
|
|
CA3407397 rs761600766 |
333 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127286754 rs761600766 |
333 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127286756 rs1019088796 |
333 | R>H | No |
ClinGen Ensembl |
|
|
CA127286761 rs916423816 |
335 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs900668965 CA127286764 |
335 | R>H | No |
ClinGen TOPMed |
|
|
rs900668965 CA360957782 |
335 | R>P | No |
ClinGen TOPMed |
|
|
CA127286766 rs967851589 |
336 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA360957814 rs1468792177 |
337 | L>F | No |
ClinGen gnomAD |
|
|
CA360957829 rs1360256958 |
339 | A>T | No |
ClinGen TOPMed |
|
|
rs996394803 CA127286769 |
339 | A>V | No |
ClinGen TOPMed |
|
|
CA360957854 rs1175045666 |
341 | R>H | No |
ClinGen TOPMed |
|
|
rs1403325276 CA360957847 |
341 | R>S | No |
ClinGen TOPMed |
|
|
rs1428813676 CA360957897 |
344 | M>T | No |
ClinGen TOPMed |
|
|
CA3407398 rs767210038 |
345 | S>T | No |
ClinGen ExAC |
|
|
CA360957982 rs1479784711 |
348 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360958011 rs1182248106 |
351 | H>N | No |
ClinGen gnomAD |
|
|
CA360958019 rs1392638112 |
351 | H>P | No |
ClinGen gnomAD |
|
|
CA360958016 rs1182248106 |
351 | H>Y | No |
ClinGen gnomAD |
|
|
rs1474919763 CA360958038 |
352 | W>* | No |
ClinGen TOPMed |
|
|
CA127286802 rs750447871 |
352 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360958085 rs1205542821 |
354 | A>V | No |
ClinGen TOPMed |
|
|
rs1450267488 CA360958156 |
357 | G>S | No |
ClinGen gnomAD |
|
|
CA127286811 rs868760684 |
359 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs868760684 CA360958196 |
359 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750287798 CA360958193 |
359 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407399 rs750287798 |
359 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360958198 rs1294991432 |
360 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1235659800 CA360958278 |
362 | A>S | No |
ClinGen gnomAD |
|
|
rs1416057650 CA360958290 |
362 | A>V | No |
ClinGen Ensembl |
|
|
rs1271066066 CA360958408 |
368 | V>F | No |
ClinGen TOPMed |
|
|
rs369296792 CA3407400 |
369 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360958444 rs1185389351 |
370 | R>L | No |
ClinGen gnomAD |
|
|
CA360958437 rs1185389351 |
370 | R>Q | No |
ClinGen gnomAD |
|
|
CA127286832 rs944968366 |
371 | R>G | No |
ClinGen TOPMed |
|
|
CA360958464 rs1434439410 |
371 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360958469 rs1434439410 |
371 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs754502603 CA3407403 |
373 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs754502603 CA3407404 |
373 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA360958512 rs1176329512 |
373 | G>S | No |
ClinGen gnomAD |
|
|
CA3407405 rs747470008 |
375 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA127286844 rs1039231107 |
376 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360958758 rs1452998799 |
380 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1287098756 CA360958776 |
381 | R>C | No |
ClinGen gnomAD |
|
|
CA360958803 rs1408992350 |
382 | S>F | No |
ClinGen TOPMed |
|
|
CA360958834 rs1388661951 |
384 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360958851 rs1302225557 |
385 | G>D | No |
ClinGen gnomAD |
|
|
rs1581222827 CA360958872 |
386 | Y>S | No |
ClinGen Ensembl |
|
|
CA360958894 rs1345128382 |
387 | T>M | No |
ClinGen gnomAD |
|
|
CA3407406 rs771529735 |
388 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA360958906 rs1270452765 |
388 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360958898 rs771529735 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3407407 rs374565904 |
391 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs550123698 CA127286865 |
393 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1242391008 CA360958987 |
394 | L>Q | No |
ClinGen TOPMed |
|
|
CA127286871 rs994998029 CA360959009 |
395 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1267653713 CA360959014 |
396 | G>S | No |
ClinGen gnomAD |
|
|
rs1049313193 CA127286882 |
398 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1184025764 CA360959037 |
398 | E>K | No |
ClinGen gnomAD |
|
|
CA127286888 rs947888808 |
399 | D>E | No |
ClinGen Ensembl |
|
|
CA360959094 rs1360400235 |
401 | A>S | No |
ClinGen TOPMed |
|
|
rs1412412806 CA360959102 |
401 | A>V | No |
ClinGen gnomAD |
|
|
CA3407410 rs376592777 |
402 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351601355 CA360959156 |
405 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3407411 rs763068818 COSM1433082 |
407 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763068818 CA360959191 |
407 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1303840401 CA360959258 |
411 | Q>H | No |
ClinGen gnomAD |
|
|
CA3407412 rs535703062 |
413 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360959286 rs535703062 |
413 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360959303 rs1290497390 |
414 | V>M | No |
ClinGen gnomAD |
|
|
CA360959318 rs1295918008 |
415 | R>C | No |
ClinGen TOPMed |
|
|
rs1351482750 CA360959323 |
415 | R>H | No |
ClinGen gnomAD |
|
|
CA360959351 rs1408916243 |
417 | H>D | No |
ClinGen TOPMed |
|
|
CA360959373 rs1365800768 |
418 | S>G | No |
ClinGen TOPMed |
|
|
rs1223638524 CA360959389 |
419 | G>R | No |
ClinGen gnomAD |
|
|
rs774555951 CA3407413 |
420 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360959420 rs1324035845 |
421 | R>P | No |
ClinGen gnomAD |
|
|
CA360959423 rs1290432522 |
422 | A>T | No |
ClinGen gnomAD |
|
|
rs774888246 CA3407415 |
423 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360959441 rs1452513893 |
423 | Y>H | No |
ClinGen gnomAD |
|
|
rs1252170690 CA360959467 |
424 | Q>K | No |
ClinGen gnomAD |
|
|
CA360959491 rs1201166634 |
425 | Y>H | No |
ClinGen gnomAD |
|
|
CA3407417 rs200727449 |
427 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360959547 rs200727449 |
427 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360959544 rs200727449 |
427 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360959569 rs1012191133 |
428 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA127286940 rs1012191133 |
428 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866096119 CA127286950 |
429 | G>D | No |
ClinGen Ensembl |
|
|
rs765962679 CA3407418 |
429 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA360959586 rs765962679 |
429 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1176686147 CA360959606 |
430 | S>C | No |
ClinGen TOPMed |
|
|
rs754695640 CA127286952 |
433 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407420 rs754695640 |
433 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407422 rs372400375 |
435 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360959721 rs372400375 |
435 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360959725 rs372400375 |
435 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407423 rs757676949 |
436 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs757676949 CA127286988 |
436 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs866743869 CA127286990 |
436 | R>L | No |
ClinGen gnomAD |
|
|
rs572417227 CA127287010 |
437 | L>I | No |
ClinGen 1000Genomes |
|
|
rs1247317120 CA360959784 |
439 | G>S | No |
ClinGen gnomAD |
|
|
CA360959811 rs746186847 |
440 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746186847 CA3407425 |
440 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746186847 CA360959808 |
440 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1356642822 CA360959842 |
441 | P>S | No |
ClinGen gnomAD |
|
|
CA127287054 rs1033550138 |
442 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 443 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3407427 rs780356725 |
443 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315658612 CA360959914 |
444 | R>L | No |
ClinGen TOPMed |
|
|
rs1239012778 CA360959969 |
446 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3407429 rs768979828 |
447 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3407430 rs138513605 |
447 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360960025 rs866802069 |
449 | P>L | No |
ClinGen gnomAD |
|
|
CA127287066 rs866802069 |
449 | P>Q | No |
ClinGen gnomAD |
|
|
rs1170569167 CA360960051 |
450 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1420441449 CA360960077 |
451 | A>T | No |
ClinGen gnomAD |
|
|
CA3407431 rs372204434 |
452 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3407433 rs773220653 |
453 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA360960135 rs1453915378 |
454 | G>V | No |
ClinGen gnomAD |
|
|
rs944767830 CA127287093 |
455 | G>E | No |
ClinGen Ensembl |
|
|
CA3407434 rs760400357 |
455 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA127287095 rs944685230 |
456 | S>N | No |
ClinGen TOPMed |
|
|
rs1389805664 CA360960200 |
458 | S>C | No |
ClinGen TOPMed |
|
|
rs766162748 CA3407435 |
458 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1338289791 CA360960221 |
458 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3407436 rs201348017 |
459 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759169760 CA3407437 |
460 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202812381 CA360960314 |
463 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1202812381 CA360960310 |
463 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs974989226 CA127287129 |
463 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1202812381 CA360960317 |
463 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 464 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581223063 CA360960368 |
465 | V>A | No |
ClinGen Ensembl |
|
|
rs141507307 CA3407438 |
465 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360960377 rs1197473830 |
466 | Q>* | No |
ClinGen TOPMed |
|
|
rs1242750411 CA360960386 |
466 | Q>H | No |
ClinGen gnomAD |
|
|
CA360960390 rs1475147659 |
467 | V>M | No |
ClinGen gnomAD |
|
|
rs111577433 CA127287155 |
468 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs111577433 CA3407441 |
468 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1404494029 CA360960419 |
469 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360960443 rs1459307002 |
470 | T>A | No |
ClinGen gnomAD |
|
|
CA360960441 rs1459307002 |
470 | T>P | No |
ClinGen gnomAD |
|
|
CA360960463 rs1325320350 |
471 | I>N | No |
ClinGen gnomAD |
|
|
rs1319611957 CA360960457 |
471 | I>V | No |
ClinGen gnomAD |
|
|
CA3407442 rs767854393 |
472 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407444 rs756751368 |
476 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA127287190 rs888061186 |
477 | S>N | No |
ClinGen TOPMed |
|
|
rs1323561889 CA360960604 |
479 | F>L | No |
ClinGen TOPMed |
|
|
CA360960671 rs1205611325 |
482 | V>I | No |
ClinGen gnomAD |
|
|
rs563259943 CA3407446 |
486 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3407448 rs779224721 |
487 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1221347785 CA360960813 |
488 | M>V | No |
ClinGen TOPMed |
|
|
CA3407450 rs772202265 |
489 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1383645544 CA360960941 |
493 | A>S | No |
ClinGen TOPMed |
|
|
CA3407453 rs773350696 |
494 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127287271 rs111532674 |
494 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746939823 CA3407454 |
496 | L>W | No |
ClinGen ExAC |
|
|
rs896178125 CA360961084 |
499 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs896178125 CA127287288 |
499 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA360961093 rs1324989756 |
500 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3407458 rs764749324 |
504 | K>Q | No |
ClinGen ExAC |
|
|
CA360961187 rs1403926301 |
504 | K>R | No |
ClinGen gnomAD |
|
|
rs1427068171 CA360961235 |
507 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3407461 rs763655757 |
511 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3407460 rs374984922 |
511 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751172407 CA3407462 |
514 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407463 rs756665447 |
514 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767031099 CA3407465 |
515 | K>E | No |
ClinGen ExAC |
|
|
rs754212201 CA360961353 |
515 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407466 rs754212201 |
515 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127287343 rs755388901 |
518 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367687599 CA3407469 |
520 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469071927 CA360961449 |
521 | G>R | No |
ClinGen gnomAD |
|
|
rs1385277004 CA360961477 |
523 | L>R | No |
ClinGen gnomAD |
|
|
rs1165557445 CA360961474 |
523 | L>V | No |
ClinGen gnomAD |
|
|
CA127287362 rs988019825 |
524 | P>R | No |
ClinGen Ensembl |
|
|
CA127287368 rs528015751 |
525 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs777811723 CA3407472 |
528 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778542633 CA3407474 |
530 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3407475 rs778542633 |
530 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781132837 CA3407476 |
531 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745593905 CA3407477 |
532 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360961652 rs1334811606 |
532 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769636038 CA3407478 |
533 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775216527 CA3407479 |
534 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3407480 rs377239280 |
535 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA360961683 rs1289791185 |
535 | P>T | No |
ClinGen gnomAD |
|
|
rs773966385 CA3407484 |
537 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1164601438 CA360961721 |
537 | P>S | No |
ClinGen TOPMed |
|
|
CA3407485 rs370092215 |
539 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754406198 CA3407488 |
540 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766941183 CA3407486 |
540 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs754406198 CA3407487 |
540 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360961771 rs1441291746 |
542 | V>G | No |
ClinGen TOPMed |
|
|
rs1250820256 CA360961780 |
543 | P>L | No |
ClinGen TOPMed |
|
|
rs1581223263 CA360961772 |
543 | P>T | No |
ClinGen Ensembl |
|
|
rs1161133350 CA360961784 |
544 | S>C | No |
ClinGen gnomAD |
|
|
rs40470 CA127287559 VAR_060465 |
545 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
CA360961825 rs1167017852 |
548 | T>I | No |
ClinGen gnomAD |
|
|
CA360961837 rs1394031769 |
549 | T>I | No |
ClinGen gnomAD |
No associated diseases with Q2M3V2
1 regional properties for Q2M3V2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 340 - 417 | IPR002110 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALAAAAAAA | AAGVSQAAVL | GFLQEHGGKV | RNSELLSRFK | PLLDAGDPRG | RAARRDRFKQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FVNNVAVVKE | LDGVKFVVLR | KKPRPPEPEP | APFGPPGAAA | QPSKPTSTVL | PRSASAPGAP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLVRVPRPVE | PPGDLGLPTE | PQDTPGGPAS | EPAQPPGERS | ADPPLPALEL | AQATERPSAD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AAPPPRAPSE | AASPCSDPPD | AEPGPGAAKG | PPQQKPCMLP | VRCVPAPATL | RLRAEEPGLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RQLSEEPSPR | SSPLLLRRLS | VEESGLGLGL | GPGRSPHLRR | LSRAGPRLLS | PDAEELPAAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPSAVPLEPS | EHEWLVRTAG | GRWTHQLHGL | LLRDRGLAAK | RDFMSGFTAL | HWAAKSGDGE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MALQLVEVAR | RSGAPVDVNA | RSHGGYTPLH | LAALHGHEDA | AVLLVVRLGA | QVHVRDHSGR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RAYQYLRPGS | SYALRRLLGD | PGLRGTTEPD | ATGGGSGSLA | ARRPVQVAAT | ILSSTTSAFL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GVLADDLMLQ | DLARGLKKSS | SFSKFLSASP | MAPRKKTKIR | GGLPAFSEIS | RRPTPGPLAG |
| LVPSLPPTT |