P51841
PR
Gene name |
GUCY2F (GUC2F, RETGC2) |
Protein name |
Retinal guanylyl cyclase 2 |
Names |
RETGC-2, Guanylate cyclase 2F, retinal, Guanylate cyclase F, GC-F, Rod outer segment membrane guanylate cyclase 2, ROS-GC2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2986 |
EC number |
4.6.1.2: Phosphorus-oxygen lyases |
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 P51841
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P51841-F1 | Predicted | AlphaFoldDB |
735 variants for P51841
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA414154800 rs1472226332 |
7 | R>C | No |
ClinGen gnomAD |
|
|
rs768233348 CA10490694 |
7 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490693 rs749186700 |
9 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414154688 rs755991142 |
10 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490691 COSM603 rs755991142 VAR_036419 |
10 | R>P | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs780930929 CA414154442 |
16 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780930929 CA10490689 |
16 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414154362 rs1234773847 |
19 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334046505 rs866869281 |
30 | A>T | No |
ClinGen gnomAD |
|
|
rs752864370 CA10490687 |
32 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334046504 rs753747404 |
33 | L>R | No |
ClinGen 1000Genomes |
|
|
rs754988699 CA10490685 |
37 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA10490684 rs754988699 |
37 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs138065898 CA10490683 |
38 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490681 rs34228145 VAR_042233 |
40 | S>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1431136922 CA414153798 |
41 | V>D | No |
ClinGen TOPMed |
|
|
CA10490680 rs761065633 |
43 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA414153757 rs761065633 |
43 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490676 rs774080062 |
46 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748885262 CA10490674 |
53 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397520590 CA414153537 |
55 | I>M | No |
ClinGen TOPMed |
|
|
rs769806909 CA414153369 |
66 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490670 rs756024210 |
67 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414153279 rs1445282985 |
72 | P>T | No |
ClinGen gnomAD |
|
|
CA10490667 rs779176665 |
74 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10490668 RCV000891694 rs61731776 |
74 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414153205 rs1386334727 |
76 | A>V | No |
ClinGen gnomAD |
|
|
rs1407151973 CA414153195 |
77 | R>P | No |
ClinGen gnomAD |
|
|
rs1162756420 CA414153157 |
80 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771449020 CA10490664 |
85 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754002480 CA10490665 |
85 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10490663 rs199503618 |
86 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490662 rs750846736 |
87 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414153003 rs1277745398 |
87 | P>L | No |
ClinGen TOPMed |
|
|
rs768008490 CA10490661 |
89 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA414152901 rs1305866701 |
90 | D>E | No |
ClinGen TOPMed |
|
|
CA414152868 rs1251941975 |
92 | S>C | No |
ClinGen TOPMed |
|
|
rs1603386677 CA414152778 |
94 | S>Y | No |
ClinGen Ensembl |
|
|
CA414152743 rs1243179127 |
95 | F>S | No |
ClinGen gnomAD |
|
|
CA334046293 rs963350991 |
98 | V>A | No |
ClinGen Ensembl |
|
|
CA414152648 rs1343816878 |
98 | V>L | No |
ClinGen gnomAD |
|
|
rs1474354312 CA414152569 |
101 | N>H | No |
ClinGen gnomAD |
|
|
CA10490657 rs762478195 |
101 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490658 rs762478195 |
101 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362851010 CA414152501 |
104 | C>Y | No |
ClinGen gnomAD |
|
|
CA414152466 rs775093662 |
105 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113525585 CA414152459 CA10490655 |
105 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775093662 CA10490656 |
105 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759528234 CA10490654 |
107 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA414152372 rs1192512630 |
109 | A>P | No |
ClinGen TOPMed |
|
|
CA10490652 rs770854420 |
110 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA334046221 rs1002008545 |
112 | S>N | No |
ClinGen Ensembl |
|
|
CA414152237 rs1392237779 |
113 | F>Y | No |
ClinGen gnomAD |
|
|
CA414152050 rs1420973995 |
118 | Q>H | No |
ClinGen TOPMed |
|
|
CA334046220 rs970549560 |
118 | Q>K | No |
ClinGen gnomAD |
|
|
rs1417738302 CA414151903 |
123 | F>L | No |
ClinGen gnomAD |
|
|
CA334046219 rs1024725721 |
123 | F>S | No |
ClinGen Ensembl |
|
|
CA10490651 rs747295933 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768963763 CA10490649 |
127 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334046216 rs892123523 |
132 | C>* | No |
ClinGen Ensembl |
|
|
CA334046210 rs1053471613 |
136 | S>L | No |
ClinGen Ensembl |
|
|
CA10490647 rs780206776 |
137 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750525974 CA10490645 |
138 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781778645 CA10490644 |
146 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1366786187 CA414151232 |
149 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1372411160 CA414151016 |
157 | D>E | No |
ClinGen gnomAD |
|
|
CA414150994 rs1234505448 |
158 | N>S | No |
ClinGen gnomAD |
|
|
CA10490642 rs752011438 |
159 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429292337 CA414150930 |
159 | K>R | No |
ClinGen gnomAD |
|
|
VAR_042234 rs33971675 CA10490641 |
160 | I>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs33971675 CA414150894 |
160 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10490639 rs752231708 |
161 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490636 rs766844814 |
163 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1603386636 CA414150801 |
163 | P>S | No |
ClinGen Ensembl |
|
|
rs1251837856 CA414150727 |
164 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490635 rs763448908 |
167 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10490633 rs140729929 |
169 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414150571 rs1456894050 |
169 | L>R | No |
ClinGen gnomAD |
|
|
rs773022970 CA10490632 |
170 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771715364 CA10490631 |
171 | S>P | No |
ClinGen ExAC |
|
|
CA414150462 rs1230089808 |
173 | I>N | No |
ClinGen gnomAD |
|
|
rs878868008 CA334046076 |
173 | I>V | No |
ClinGen Ensembl |
|
|
CA10490630 rs148370777 |
174 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414150246 rs1215112972 |
177 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 178 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146913547 CA10490629 |
181 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215682246 CA414149901 |
186 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10490627 rs745991634 |
187 | H>Y | No |
ClinGen ExAC |
|
|
CA414149837 rs1371427825 |
188 | A>S | No |
ClinGen gnomAD |
|
|
CA414149806 rs1304869700 |
189 | G>R | No |
ClinGen gnomAD |
|
|
CA10490626 rs781389157 |
192 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA414149615 rs1174747404 |
194 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757868929 CA414149604 CA10490625 |
194 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414149618 rs1174747404 |
194 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA414149595 rs1603386622 |
195 | E>Q | No |
ClinGen Ensembl |
|
|
rs375203692 CA10490624 |
196 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414149532 rs1180790444 |
197 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778210304 CA10490623 |
198 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1257827358 CA414149499 |
199 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260965800 CA414149338 |
206 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425819180 CA414149240 |
210 | R>P | No |
ClinGen TOPMed |
|
|
CA10490619 rs372564035 |
210 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA414149162 rs368309914 |
212 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490618 rs753390283 |
212 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA414149144 rs1267481714 |
213 | G>S | No |
ClinGen gnomAD |
|
|
CA414149126 rs1238404751 |
214 | L>* | No |
ClinGen gnomAD |
|
|
rs773078114 CA10490615 |
215 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1433159339 CA414149069 |
216 | V>L | No |
ClinGen TOPMed |
|
|
CA414149053 rs1376042816 |
217 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs535272524 CA334045979 |
221 | T>I | No |
ClinGen Ensembl |
|
|
CA10490612 rs202148546 |
221 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769949009 CA10490611 |
222 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1446732966 CA414148848 |
222 | T>I | No |
ClinGen gnomAD |
|
|
rs147731698 CA10490610 |
223 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10490609 rs776868978 |
225 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414148742 rs1452262395 |
226 | S>G | No |
ClinGen gnomAD |
|
|
CA414148736 rs1239325438 |
226 | S>N | No |
ClinGen TOPMed |
|
|
rs771072401 CA10490608 |
226 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490607 rs747519626 |
228 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA334045912 rs926518532 |
230 | R>L | No |
ClinGen Ensembl |
|
|
RCV000950880 rs33973457 VAR_042235 CA10490606 |
230 | R>W | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414148480 rs1240929379 |
232 | A>D | No |
ClinGen gnomAD |
|
|
rs1240929379 CA414148489 |
232 | A>V | No |
ClinGen gnomAD |
|
|
rs970540009 CA334045887 |
233 | L>F | No |
ClinGen Ensembl |
|
|
rs374977983 CA414148457 |
233 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374977983 CA10490605 |
233 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490604 rs748512478 |
234 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs148944901 CA10490601 |
238 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247335968 CA414148297 |
238 | Q>R | No |
ClinGen gnomAD |
|
|
rs1184951370 CA414148188 |
242 | I>V | No |
ClinGen TOPMed |
|
|
CA414144859 rs1210490674 |
247 | M>V | No |
ClinGen gnomAD |
|
|
rs759847498 CA10490590 |
249 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1490224863 CA414144805 |
249 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207483913 CA414144758 |
251 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490589 rs761391907 |
254 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145770134 CA10490588 |
256 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490587 rs747147313 |
257 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1403794188 CA414144490 |
260 | M>I | No |
ClinGen gnomAD |
|
|
CA10490586 rs773321569 |
260 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10490585 rs772499363 |
265 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA414144301 rs1367164071 |
266 | A>V | No |
ClinGen TOPMed |
|
|
rs988179117 CA334041104 |
268 | D>E | No |
ClinGen TOPMed |
|
|
rs1217966985 CA414143913 |
277 | V>A | No |
ClinGen TOPMed |
|
|
rs568281158 CA10490583 COSM200802 |
277 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755278764 CA10490582 |
280 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10490581 rs774122869 |
281 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1378124244 CA414143786 |
282 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA414143739 rs1198693852 |
283 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12008095 CA10490579 VAR_009136 |
284 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1483485434 CA414143582 |
288 | L>S | No |
ClinGen gnomAD |
|
|
CA10490578 rs749939126 |
289 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA414143429 rs1347662537 |
293 | T>A | No |
ClinGen gnomAD |
|
|
CA10490576 rs757162707 |
293 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1018368698 CA334041052 |
294 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA414143366 rs1018368698 |
294 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414143371 rs1018368698 |
294 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 295 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs502209 CA334041029 |
296 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA334041031 rs502209 |
296 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_009137 CA10490573 rs502209 |
296 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1477186740 CA414143290 |
297 | V>D | No |
ClinGen TOPMed |
|
|
rs762905736 CA10490572 |
299 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490571 rs752523860 |
304 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55966326 CA10490569 VAR_042236 |
305 | R>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA10490570 rs144172506 |
305 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10490567 rs16985750 VAR_030633 RCV000958348 |
308 | Y>C | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775397443 CA10490565 |
309 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748195906 CA10490566 |
309 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199585708 CA334041015 |
309 | D>Y | No |
ClinGen Ensembl |
|
|
CA414142914 rs1444357656 |
311 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414142782 rs1288857667 |
318 | S>P | No |
ClinGen TOPMed |
|
|
rs780364503 CA10490562 |
320 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 320 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146591928 CA10490561 |
322 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376077926 CA10490560 |
323 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs73248160 CA10490559 |
324 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10490558 rs148630087 |
325 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773631270 CA334040964 |
326 | A>D | No |
ClinGen TOPMed |
|
|
CA334040957 rs773631270 |
326 | A>G | No |
ClinGen TOPMed |
|
|
CA10490556 rs777912987 |
327 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190795574 CA414142577 |
328 | T>A | No |
ClinGen TOPMed |
|
|
rs758390541 CA10490555 |
332 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414142424 rs1168894338 |
333 | R>K | No |
ClinGen TOPMed |
|
|
CA414142413 rs1400044743 |
334 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752582813 CA10490553 |
336 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1473876011 CA414142340 |
337 | P>R | No |
ClinGen gnomAD |
|
|
CA334040932 rs917652363 |
338 | E>A | No |
ClinGen Ensembl |
|
|
CA10490551 rs760833831 |
340 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10490550 rs143967019 |
341 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10490548 rs149453194 |
343 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377699555 CA334040901 |
344 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA10490529 rs765200764 |
345 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10490528 rs764110123 |
346 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA334038057 rs763462771 |
347 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490527 rs763462771 |
347 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490525 rs372426858 |
350 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 350 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760000031 CA10490523 |
356 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1016145712 CA334038016 |
360 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770659281 CA10490521 |
361 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1216351524 CA414138160 |
364 | N>S | No |
ClinGen TOPMed |
|
|
CA334038012 rs867023662 |
367 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 367 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317998682 CA414138107 |
367 | M>T | No |
ClinGen TOPMed |
|
|
CA414138115 rs1418001131 |
367 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA414138092 rs1193494567 |
368 | K>E | No |
ClinGen gnomAD |
|
|
CA334038008 rs903749390 |
371 | G>R | No |
ClinGen TOPMed |
|
|
rs1481043356 CA414137936 |
374 | G>D | No |
ClinGen gnomAD |
|
|
CA10490519 rs772875586 |
375 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1203574815 CA414137899 |
376 | A>D | No |
ClinGen gnomAD |
|
|
CA10490518 rs771654900 |
377 | S>N | No |
ClinGen ExAC |
|
|
rs748101818 CA10490517 |
378 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_030634 rs2272925 CA10490515 |
380 | Q>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10490514 rs749158409 |
383 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779672566 CA10490513 |
386 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs757520881 CA10490512 |
388 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA414137595 rs1603384760 |
388 | H>Y | No |
ClinGen Ensembl |
|
|
CA414137500 rs1441748640 |
391 | N>S | No |
ClinGen gnomAD |
|
|
CA414137321 rs1353182503 |
395 | R>K | No |
ClinGen gnomAD |
|
|
rs764163712 CA10490510 |
396 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764163712 CA10490511 |
396 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA414137281 rs1375856873 |
397 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1470612001 CA414137293 |
397 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 397 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429152122 CA414137186 |
402 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10490508 rs752756433 |
404 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250798897 CA414137089 |
407 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1479444489 CA414137073 |
408 | I>V | No |
ClinGen gnomAD |
|
|
rs1411570325 CA414136879 |
419 | H>Y | No |
ClinGen TOPMed |
|
|
rs1569372097 CA414136849 |
420 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs892253741 CA334037985 |
421 | T>I | No |
ClinGen TOPMed |
|
|
CA10490505 rs777087860 |
423 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 424 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359653033 CA414136817 |
425 | D>G | No |
ClinGen TOPMed |
|
|
rs1318883522 COSM372078 CA414136806 |
426 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA334037981 rs867692637 TCGA novel |
428 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 429 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 429 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490503 rs760419907 |
431 | L>P | No |
ClinGen ExAC |
|
|
rs368903650 CA10490502 |
432 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771847070 CA10490501 |
432 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768681419 CA10490498 |
434 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_042237 CA10490499 rs56293008 |
434 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414136745 rs1354873879 |
436 | T>N | No |
ClinGen TOPMed |
|
|
rs930916335 CA334037969 |
438 | I>L | No |
ClinGen TOPMed |
|
|
CA334037967 rs867112346 |
439 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1459278961 CA414136722 |
440 | F>L | No |
ClinGen gnomAD |
|
|
rs779911175 CA10490496 |
441 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1488715375 CA414136708 |
442 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 444 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414136693 rs778023123 CA10490494 |
444 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758593336 CA10490492 |
445 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758593336 CA414136692 |
445 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752859763 CA10490491 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 447 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414136668 rs1486141790 |
449 | D>H | No |
ClinGen gnomAD |
|
|
rs778816555 CA10490489 |
450 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 451 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143309108 CA10490488 |
452 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414136636 rs1317352903 |
453 | W>* | No |
ClinGen gnomAD |
|
|
rs923887372 CA334037944 |
453 | W>R | No |
ClinGen Ensembl |
|
|
rs754244362 CA10490487 |
454 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA10490486 rs766775773 |
456 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA334037940 rs978321185 |
459 | I>F | No |
ClinGen gnomAD |
|
|
CA414136598 rs978321185 |
459 | I>V | No |
ClinGen gnomAD |
|
|
rs750805978 CA10490484 |
462 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10490471 rs779066597 |
465 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358965184 CA414136541 |
465 | D>G | No |
ClinGen gnomAD |
|
|
rs1223575730 CA414136545 |
465 | D>N | No |
ClinGen gnomAD |
|
|
CA10490470 rs754950347 |
466 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490469 rs753952849 |
467 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10490468 rs780765465 |
469 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA334037651 rs1035833479 |
472 | V>F | No |
ClinGen Ensembl |
|
|
CA414136459 rs1191608325 |
473 | C>Y | No |
ClinGen TOPMed |
|
|
rs1243906800 CA414136413 |
475 | T>N | No |
ClinGen TOPMed |
|
|
rs750859377 CA10490466 |
476 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10490465 rs767955484 |
477 | L>I | No |
ClinGen ExAC |
|
|
rs375437578 CA414136349 |
479 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761568960 CA10490464 |
479 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA10490463 rs375437578 |
479 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762428741 CA10490461 |
482 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490460 rs775038518 |
484 | N>K | No |
ClinGen ExAC |
|
|
rs1169451362 CA414136225 |
487 | A>S | No |
ClinGen gnomAD |
|
|
CA334037632 rs1021594310 |
487 | A>V | No |
ClinGen gnomAD |
|
|
CA414136204 rs1372435579 |
488 | Y>S | No |
ClinGen gnomAD |
|
|
rs144206136 CA334037630 |
491 | R>K | No |
ClinGen ESP |
|
|
rs1480115758 CA414134607 |
491 | R>S | No |
ClinGen gnomAD |
|
|
rs746317393 CA10490447 |
492 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139373641 CA10490446 |
492 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10490445 COSM171833 rs372111572 |
493 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA414134573 rs372111572 |
493 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751936294 CA10490444 |
494 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10490443 RCV000973002 rs148768857 |
495 | N>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA334036663 rs867957972 |
496 | K>E | No |
ClinGen Ensembl |
|
|
CA414134471 rs1326310092 |
498 | Q>* | No |
ClinGen gnomAD |
|
|
CA10490441 rs752234770 |
498 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764676255 CA10490440 |
502 | G>R | No |
ClinGen ExAC |
|
|
CA10490439 rs759484693 |
504 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776486432 CA10490438 |
506 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 507 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334036653 rs200282358 |
507 | L>P | No |
ClinGen gnomAD |
|
|
rs1359158052 CA414133873 |
512 | D>V | No |
ClinGen TOPMed |
|
|
rs1210943420 CA414133870 |
513 | V>I | No |
ClinGen TOPMed |
|
|
rs149713239 CA334036651 |
514 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10490435 rs149713239 |
514 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149713239 CA10490436 |
514 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749489782 CA10490433 |
516 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1468159843 CA414133851 |
516 | I>N | No |
ClinGen gnomAD |
|
|
rs1423216091 CA414133846 |
517 | N>D | No |
ClinGen gnomAD |
|
|
rs775736883 CA10490432 |
517 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10490431 rs769924984 |
518 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1463825387 CA414133832 |
519 | H>R | No |
ClinGen TOPMed |
|
|
CA334036637 rs899961599 |
519 | H>Y | No |
ClinGen TOPMed |
|
|
rs1462883081 CA414133812 |
522 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs374909566 CA334036628 |
523 | K>N | No |
ClinGen ESP TOPMed |
|
|
CA10490412 rs759735317 |
526 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776821267 CA10490411 |
526 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA414150915 rs1445846506 |
526 | S>R | No |
ClinGen gnomAD |
|
|
CA334052124 rs995111960 |
527 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs370550054 CA10490410 |
527 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414150861 rs1359676832 |
528 | A>G | No |
ClinGen gnomAD |
|
|
CA10490409 rs747499694 |
530 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA414150794 rs747499694 |
530 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 531 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414150755 rs1569368719 |
532 | F>S | No |
ClinGen Ensembl |
|
|
CA414150588 rs1014962297 |
537 | E>D | No |
ClinGen TOPMed |
|
|
rs1055999600 CA334052104 |
538 | V>D | No |
ClinGen gnomAD |
|
|
CA10490408 rs778011700 |
538 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs772416837 CA10490407 |
541 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs938760588 CA334052092 |
543 | S>P | No |
ClinGen gnomAD |
|
|
rs1325988538 CA414150267 |
545 | R>S | No |
ClinGen gnomAD |
|
|
rs199861882 CA10490405 |
550 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753390482 CA10490403 |
553 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160668077 CA414149889 |
555 | P>L | No |
ClinGen TOPMed |
|
|
CA414149913 rs1160668077 |
555 | P>Q | No |
ClinGen TOPMed |
|
|
rs1569368693 CA414149861 |
556 | A>P | No |
ClinGen Ensembl |
|
|
rs764638274 CA10490402 |
556 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10490401 rs756031993 |
561 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750320118 CA10490400 |
563 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA414149688 rs1200914471 |
564 | A>E | No |
ClinGen gnomAD |
|
|
CA10490399 rs767349052 |
564 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1200914471 CA414149683 |
564 | A>V | No |
ClinGen gnomAD |
|
|
CA10490388 VAR_042238 rs779221554 COSM13327 |
568 | G>D | central_nervous_system a glioblastoma multiforme sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
CA334046534 rs779221554 |
568 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10490387 rs768332850 |
570 | W>S | No |
ClinGen ExAC |
|
| TCGA novel | 571 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414147181 rs1569365724 |
572 | W>* | No |
ClinGen Ensembl |
|
|
CA414147193 rs1241028249 |
572 | W>R | No |
ClinGen TOPMed |
|
|
CA414147134 rs139586665 |
574 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490386 rs139586665 |
574 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414147019 rs1189157595 |
577 | S>P | No |
ClinGen gnomAD |
|
|
rs1257506876 CA414146837 |
581 | F>L | No |
ClinGen gnomAD |
|
|
rs1183832113 CA414146853 |
581 | F>S | No |
ClinGen TOPMed |
|
|
rs1233281967 CA414146823 |
583 | D>N | No |
ClinGen gnomAD |
|
|
rs1203507339 CA414146809 |
583 | D>V | No |
ClinGen gnomAD |
|
|
CA414146780 rs1379244794 |
584 | L>P | No |
ClinGen TOPMed |
|
|
rs755714319 CA10490383 |
586 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA414146529 rs1437302746 |
590 | R>S | No |
ClinGen TOPMed |
|
|
rs749884102 CA10490382 |
592 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1324440957 CA414146484 |
592 | S>T | No |
ClinGen gnomAD |
|
|
rs781235330 CA10490381 |
593 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1569365688 CA414146454 |
593 | D>N | No |
ClinGen Ensembl |
|
|
rs1159754943 CA414146421 |
593 | D>V | No |
ClinGen TOPMed |
|
|
rs757225019 CA10490380 |
594 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 595 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490379 rs773038894 |
596 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773038894 CA10490378 COSM257079 |
596 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10490361 rs777714732 |
599 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA414142389 rs1156811462 |
600 | D>N | No |
ClinGen TOPMed |
|
|
CA10490359 rs752423933 |
602 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 602 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490357 rs756259576 |
602 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10490358 rs756259576 |
602 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490356 rs750548165 |
604 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1183932207 CA414142287 |
605 | N>H | No |
ClinGen gnomAD |
|
|
CA10490355 rs767541300 |
606 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10490354 rs762324165 |
611 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10490353 rs183560361 |
612 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 613 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490352 rs376548054 |
613 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490351 rs763422584 |
614 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10490350 rs775683052 |
616 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414142086 rs1294440346 |
618 | M>T | No |
ClinGen gnomAD |
|
|
rs1161143672 CA414142053 |
620 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776293595 CA10490347 |
621 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10490346 rs200850550 |
623 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746511842 CA10490345 |
624 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10490344 rs777917213 |
627 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10490343 COSM200794 rs758390351 |
628 | R>* | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
VAR_030635 CA10490342 rs7883913 |
628 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 629 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287592833 CA414141960 |
630 | S>G | No |
ClinGen TOPMed |
|
|
rs749094505 CA334038358 |
630 | S>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1163999030 CA414141920 |
633 | D>A | No |
ClinGen gnomAD |
|
|
CA414141911 rs1603380893 |
634 | I>K | No |
ClinGen Ensembl |
|
|
CA334038356 rs897483162 |
634 | I>V | No |
ClinGen TOPMed |
|
|
CA10490338 rs773203202 |
635 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414141887 rs1366492923 |
637 | N>D | No |
ClinGen gnomAD |
|
|
CA10490337 rs757397649 |
637 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490336 rs200083782 |
638 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764623461 CA10490335 |
639 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 640 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763325036 CA10490334 |
640 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs150850300 CA10490332 |
644 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759230287 CA10490331 |
650 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA334038340 rs111441832 |
652 | L>P | No |
ClinGen Ensembl |
|
|
rs755037504 CA334038337 |
653 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs770692407 CA10490328 |
654 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA414141618 rs1277046849 |
656 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 657 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751666123 CA10490318 |
657 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs751666123 CA414140761 |
657 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs777778594 CA10490317 |
658 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs200941900 CA334037375 |
662 | H>Q | No |
ClinGen Ensembl |
|
|
rs1011483509 CA334037379 |
662 | H>Y | No |
ClinGen TOPMed |
|
|
rs1194339058 CA414140675 |
665 | E>K | No |
ClinGen gnomAD |
|
|
CA10490316 rs758957556 |
665 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414140641 rs1325140551 |
669 | G>E | No |
ClinGen gnomAD |
|
|
CA414140639 rs1366757167 |
670 | R>W | No |
ClinGen TOPMed |
|
|
CA10490314 rs765768638 COSM1331357 |
674 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10490313 rs759874490 |
676 | C>F | No |
ClinGen ExAC gnomAD |
|
|
VAR_042239 rs35474112 CA10490312 |
677 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1391699910 CA414140553 |
678 | V>I | No |
ClinGen gnomAD |
|
|
rs1007902203 CA334037364 |
679 | D>G | No |
ClinGen TOPMed |
|
|
CA10490311 COSM4137594 rs138523533 |
681 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10490310 rs111862571 |
681 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111862571 CA334037361 |
681 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414140486 rs1173199403 |
684 | L>P | No |
ClinGen gnomAD |
|
|
CA10490308 rs771429124 |
687 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs761819156 CA10490307 |
688 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs774223394 CA10490306 |
689 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490305 rs371891793 |
690 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779783238 CA10490303 COSM1112991 |
693 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10490302 rs771160797 |
695 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414140323 rs1342451786 |
698 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1384701620 CA414140315 |
699 | R>K | No |
ClinGen TOPMed |
|
|
CA10490301 rs747172645 |
701 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA414140247 rs1239310442 |
704 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA334037335 rs952204671 |
704 | E>K | No |
ClinGen Ensembl |
|
|
CA414140225 rs369527738 |
707 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369527738 CA334037334 |
707 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10490300 rs780290784 |
708 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414140192 rs1311449656 |
709 | E>K | No |
ClinGen TOPMed |
|
|
CA10490280 rs149400167 |
710 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs942386066 CA334036101 |
713 | T>A | No |
ClinGen Ensembl |
|
|
CA10490278 rs138914570 COSM3781514 |
713 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA334036097 rs929453497 |
714 | A>D | No |
ClinGen TOPMed |
|
|
CA414139280 rs1219647011 |
714 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 715 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334036094 rs367814220 |
715 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA414139227 rs1603379999 |
717 | L>Q | No |
ClinGen Ensembl |
|
|
CA414139137 rs1603379997 |
723 | G>A | No |
ClinGen Ensembl |
|
|
rs950184660 COSM1112989 CA334036090 |
724 | S>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA414139105 rs1224248503 |
725 | R>S | No |
ClinGen gnomAD |
|
|
rs1322167701 CA414139090 |
726 | L>F | No |
ClinGen gnomAD |
|
|
CA334036088 rs991515020 |
726 | L>I | No |
ClinGen TOPMed |
|
|
rs767127932 CA414139083 |
727 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs767127932 CA10490274 |
727 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs756891589 CA10490273 |
727 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1341343082 CA414139063 |
728 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs113612238 CA10490272 |
729 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414139019 rs1219270273 |
731 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 733 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762879407 CA10490270 |
735 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA414138956 rs1193294657 |
735 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA334036080 rs201368213 |
737 | A>T | No |
ClinGen Ensembl |
|
|
rs775471799 CA10490269 |
738 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414138890 rs1447813160 |
739 | I>T | No |
ClinGen gnomAD |
|
|
CA10490267 rs759374088 |
740 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265691746 CA414138881 |
740 | M>V | No |
ClinGen gnomAD |
|
|
rs776454451 CA10490266 |
744 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA334036074 rs959243077 |
745 | V>I | No |
ClinGen TOPMed |
|
|
rs1477248854 COSM3786428 CA414138788 |
746 | R>Q | pancreas Variant assessed as Somatic; 6.254e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM3379423 CA10490264 rs748353714 |
746 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10490263 rs374790700 |
747 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414138766 rs1488585702 |
749 | P>T | No |
ClinGen gnomAD |
|
|
CA10490260 rs768790782 |
752 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768790782 CA414138735 |
752 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276425145 CA414138712 |
753 | M>I | No |
ClinGen TOPMed |
|
|
CA414138669 rs1359713779 |
756 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1219054534 CA414138644 |
757 | A>V | No |
ClinGen gnomAD |
|
|
CA334035585 rs1034259772 |
761 | I>M | No |
ClinGen Ensembl |
|
|
CA10490240 rs775683912 |
761 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 763 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414137534 rs1309572527 |
765 | K>E | No |
ClinGen TOPMed |
|
|
CA10490239 rs770442918 |
766 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1219830680 CA414137507 |
766 | K>Q | No |
ClinGen TOPMed |
|
|
rs746194191 CA10490238 |
767 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375269870 CA414137445 |
769 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 771 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414137330 rs1338153709 |
775 | V>I | No |
ClinGen gnomAD |
|
|
rs781592201 CA334035581 |
776 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 776 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490236 rs771390719 |
778 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770562119 CA10490235 |
779 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490234 rs777449596 |
780 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1402059765 CA414137241 |
780 | A>T | No |
ClinGen gnomAD |
|
|
rs150219084 CA10490231 |
785 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA334035568 rs965615642 |
786 | Q>L | No |
ClinGen TOPMed |
|
|
CA414137092 rs1255467662 |
788 | M>I | No |
ClinGen gnomAD |
|
|
rs1483654239 CA414137099 |
788 | M>K | No |
ClinGen gnomAD |
|
|
rs754885812 CA414137075 |
790 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
rs754885812 CA10490229 |
790 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
rs1208333934 CA414137059 |
791 | C>F | No |
ClinGen gnomAD |
|
|
CA414137025 rs35726803 |
794 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10490227 VAR_042240 rs35726803 |
794 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1020111907 CA334035563 |
796 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA414136998 rs1020111907 |
796 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760578826 CA10490226 |
798 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs376993031 CA10490225 |
799 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199848919 CA10490224 |
799 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 800 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026999349 CA334035556 |
800 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1715410 CA10490223 rs763231123 |
801 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 805 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360713389 CA414136870 |
807 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 808 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 814 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490209 rs748737240 |
816 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1276497715 COSM3390379 CA414136391 |
817 | K>N | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10490206 rs750278657 |
820 | I>V | No |
ClinGen ExAC |
|
|
rs767359855 CA10490205 |
821 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1457367395 CA414136356 |
821 | I>V | No |
ClinGen gnomAD |
|
|
CA414136338 rs1478883814 |
822 | D>E | No |
ClinGen gnomAD |
|
|
rs1032475266 CA334035131 |
823 | S>Y | No |
ClinGen Ensembl |
|
|
rs146581083 CA10490202 |
824 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10490201 rs765361092 |
826 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414136294 rs1269947015 |
827 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs759708563 CA10490200 |
829 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414136244 rs1216451167 |
831 | Y>C | No |
ClinGen gnomAD |
|
|
CA414136219 rs776540691 |
833 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490197 rs761121649 |
837 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334035120 rs1018206682 |
838 | L>F | No |
ClinGen Ensembl |
|
|
CA414136163 rs1424987852 |
838 | L>S | No |
ClinGen TOPMed |
|
|
rs1216448806 CA414136151 |
839 | I>T | No |
ClinGen gnomAD |
|
|
rs369729835 CA10490194 |
840 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754009397 CA10490195 |
840 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10490191 rs748872921 |
842 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768175035 CA10490192 |
842 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466058793 CA414136120 |
844 | E>K | No |
ClinGen gnomAD |
|
|
CA414136106 TCGA novel rs756103629 |
845 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA414136110 rs1303319363 |
845 | E>K | No |
ClinGen TOPMed |
|
|
CA10490188 rs140538811 |
848 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 849 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781268860 CA10490187 COSM1112985 |
853 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10490185 rs751376770 |
854 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375290870 CA10490183 |
855 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA414136038 rs1265688851 |
855 | K>T | No |
ClinGen gnomAD |
|
|
CA334035107 rs914479970 |
856 | L>H | No |
ClinGen TOPMed |
|
|
CA10490181 rs753973296 COSM3694274 |
862 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs760969063 CA10490180 |
863 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA334034931 rs200766740 |
865 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10490168 rs775066904 |
867 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982860715 CA334034927 |
868 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10490167 rs774872122 |
869 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA10490166 rs148663380 VAR_069424 |
872 | G>D | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414135881 rs148663380 |
872 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490165 rs781325492 |
874 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369021606 CA10490164 |
878 | E>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs144975951 CA10490163 |
885 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000733700 CA10490162 rs771612859 |
886 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA414135694 rs149933538 |
888 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs904988846 CA334034909 |
889 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10490160 rs139524320 |
891 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414135653 rs1334880841 |
892 | G>D | No |
ClinGen gnomAD |
|
|
CA10490159 rs761282012 |
893 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414135635 rs1569356518 |
894 | T>A | No |
ClinGen Ensembl |
|
|
rs371515388 CA10490157 |
898 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490155 rs762270973 |
903 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs751979508 CA10490154 |
904 | E>K | No |
ClinGen ExAC |
|
|
CA10490152 rs763367582 |
906 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA414135501 rs1368567606 |
907 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 913 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147384675 CA10490149 |
914 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216879177 CA414135399 |
915 | L>V | No |
ClinGen gnomAD |
|
|
CA414135373 rs1283591173 |
917 | D>N | No |
ClinGen gnomAD |
|
|
CA414135321 rs1247594683 |
921 | G>C | No |
ClinGen TOPMed |
|
|
rs376015221 CA10490147 |
924 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA334034877 rs35608747 |
927 | K>* | No |
ClinGen Ensembl |
|
|
rs896255277 CA334034874 |
927 | K>R | No |
ClinGen gnomAD |
|
|
CA10490137 rs757778539 |
928 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA414134358 rs1223422937 |
928 | V>I | No |
ClinGen gnomAD |
|
|
CA414134348 rs1168146852 |
929 | E>D | No |
ClinGen TOPMed |
|
|
rs764645286 CA10490135 |
929 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490134 rs763273160 |
930 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490133 rs753072350 |
931 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs765010617 CA10490132 |
931 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334034508 rs779163568 |
932 | G>R | No |
ClinGen gnomAD |
|
|
CA10490131 rs759215036 |
934 | A>G | No |
ClinGen ExAC |
|
|
CA414134273 rs1268797546 |
937 | V>A | No |
ClinGen gnomAD |
|
|
rs765920850 CA10490128 |
938 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10490129 rs765920850 |
938 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760228830 CA10490127 |
939 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA10490126 rs374150536 |
940 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370514556 CA10490125 |
942 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 942 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 942 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401894550 CA414134229 |
943 | K>Q | No |
ClinGen gnomAD |
|
|
CA10490124 rs144180533 |
945 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774094236 CA10490123 |
946 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1464792293 CA414134206 |
946 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 948 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490121 rs746036001 |
951 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 952 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932512024 CA334034503 |
954 | A>E | No |
ClinGen Ensembl |
|
|
rs757335198 CA10490119 |
957 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA414134100 rs1411398906 |
961 | L>P | No |
ClinGen gnomAD |
|
|
CA414134094 rs747085313 |
962 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490118 rs747085313 |
962 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202122514 CA10490116 |
964 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233033382 CA414134084 |
964 | V>M | No |
ClinGen TOPMed |
|
|
CA334034499 rs776638322 |
968 | K>N | No |
ClinGen 1000Genomes |
|
|
CA10490114 rs200322425 |
970 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765639310 CA10490112 |
972 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 972 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753024890 CA10490113 |
972 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs78701769 CA10490111 |
973 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201541871 CA10490110 |
976 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA414133971 rs1331444939 |
978 | R>* | No |
ClinGen gnomAD |
|
|
rs141602585 CA10490107 |
978 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767389454 CA10490106 |
980 | R>* | Variant assessed as Somatic; 0.00069 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414133951 COSM1497201 rs761764082 |
980 | R>L | kidney large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10490105 rs761764082 |
980 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414654669 CA414133941 |
981 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA414133906 rs1441477111 |
984 | H>Q | No |
ClinGen gnomAD |
|
|
rs774149153 CA10490104 |
984 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768377831 CA10490103 |
985 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384297371 CA414133895 |
986 | G>R | No |
ClinGen TOPMed |
|
|
rs1239485607 CA414133780 |
987 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs751568498 CA414133776 |
988 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA10490087 rs751568498 |
988 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs886523083 CA334034034 |
989 | V>F | No |
ClinGen TOPMed |
|
|
CA10490086 rs763993439 |
992 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1405922499 CA414133749 |
993 | V>A | No |
ClinGen gnomAD |
|
|
rs775222043 CA10490084 |
996 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414133730 rs1483708782 |
996 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1004 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334034030 rs895500959 |
1010 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs55735218 VAR_042241 CA334034027 |
1010 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA414133600 rs1569354881 |
1011 | S>P | No |
ClinGen Ensembl |
|
|
rs771077810 CA10490082 |
1012 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047804874 CA334034020 |
1012 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs760892274 CA10490081 |
1013 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA414133576 rs1315607585 |
1014 | E>G | No |
ClinGen gnomAD |
|
|
CA414133580 rs1239000981 |
1014 | E>Q | No |
ClinGen gnomAD |
|
|
CA414133551 rs1314270234 |
1017 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1018 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414133530 rs1228324356 |
1019 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1220120990 CA414133440 |
1020 | Y>C | No |
ClinGen gnomAD |
|
|
CA414133441 rs1220120990 |
1020 | Y>S | No |
ClinGen gnomAD |
|
|
rs764046823 CA10490067 |
1021 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490066 rs199903626 COSM1112975 |
1021 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1052545377 CA334033597 |
1023 | H>R | No |
ClinGen Ensembl |
|
|
CA414133368 rs1263856314 |
1029 | V>A | No |
ClinGen TOPMed |
|
|
rs1603378594 CA414133370 |
1029 | V>F | No |
ClinGen Ensembl |
|
|
rs752500639 CA10490065 |
1030 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752500639 CA414133362 |
1030 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs765026247 COSM1112973 CA10490063 |
1032 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA414133352 rs1460830043 |
1032 | L>P | No |
ClinGen gnomAD |
|
|
CA10490062 rs759238866 |
1033 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1162823121 CA414133335 |
1034 | N>K | No |
ClinGen gnomAD |
|
|
CA10490061 rs773550329 |
1035 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA414133327 rs1424525673 |
1036 | S>N | No |
ClinGen gnomAD |
|
|
CA414133321 rs1192735970 |
1037 | E>Q | No |
ClinGen gnomAD |
|
|
rs1427166780 CA414133314 |
1038 | G>S | No |
ClinGen gnomAD |
|
|
rs1217762958 CA414133288 |
1041 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA414133280 CA414133279 rs1192323613 |
1042 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs77224668 CA10490060 |
1044 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762032757 CA10490059 |
1044 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs769316117 CA10490057 |
1045 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs774522243 CA10490058 |
1045 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA414133238 rs1250469621 |
1050 | K>Q | No |
ClinGen gnomAD |
|
|
rs148378451 CA10490039 |
1051 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA334273904 rs1047747697 |
1052 | K>Q | No |
ClinGen Ensembl |
|
| VAR_042242 | 1052 | K>R | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA414217039 rs1345469464 |
1054 | T>R | No |
ClinGen gnomAD |
|
| VAR_042243 | 1055 | E>D | a lung squamous cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA414216982 COSM1555773 rs372240553 |
1057 | T>N | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10490037 rs372240553 |
1057 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10490035 rs770184184 |
1058 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414216948 rs1389910273 |
1059 | W>C | No |
ClinGen gnomAD |
|
|
rs746270884 CA10490034 |
1061 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1062 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490032 rs770578170 |
1064 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1064 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775910234 CA10490033 |
1064 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1065 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490031 rs746608868 |
1065 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs369756090 CA10490030 |
1066 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757970595 CA10490029 |
1069 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747580307 CA10490028 |
1070 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485718506 CA414216867 |
1072 | V>M | No |
ClinGen TOPMed |
|
|
CA414216861 rs1178978370 |
1073 | P>S | No |
ClinGen gnomAD |
|
|
CA10490026 rs144318505 |
1074 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1257876805 CA414216854 |
1074 | P>L | No |
ClinGen gnomAD |
|
|
CA10490027 rs144318505 |
1074 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1076 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414216830 rs1359730535 |
1078 | K>R | No |
ClinGen gnomAD |
|
|
rs753696134 CA10490025 |
1080 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA414216792 rs1265087987 |
1082 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1084 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1086 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372024404 CA334273899 |
1088 | P>A | No |
ClinGen ESP |
|
|
CA334273898 rs1036529373 |
1088 | P>R | No |
ClinGen TOPMed |
|
|
rs778244498 CA10490010 |
1091 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358614377 CA414216707 |
1095 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1095 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10490009 rs770550094 |
1099 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780123674 CA10490007 |
1101 | R>S | No |
ClinGen ExAC |
|
|
rs750207450 CA10490005 |
1102 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10490006 rs756036745 |
1102 | Q>R | No |
ClinGen ExAC |
|
|
rs778167661 CA10490004 |
1103 | L>W | No |
ClinGen ExAC |
|
|
CA10490002 rs752829352 |
1104 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA10490003 rs752829352 |
1104 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs759649311 CA10490000 |
1105 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA414216632 CA10489997 rs202106035 |
1106 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10489995 rs368304990 |
1109 | P>Q | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with P51841
6 regional properties for P51841
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 532 - 812 | IPR000719 |
| domain | Adenylyl cyclase class-3/4/guanylyl cyclase | 848 - 1061 | IPR001054 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 595 - 808 | IPR001245 |
| domain | Receptor, ligand binding region | 73 - 412 | IPR001828 |
| domain | Haem NO binding associated | 824 - 869 | IPR011645 |
| conserved_site | Adenylyl cyclase class-4/guanylyl cyclase, conserved site | 991 - 1014 | IPR018297 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.6.1.2 | Phosphorus-oxygen lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nuclear outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes. |
| photoreceptor disc membrane | Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| rod photoreceptor outer segment | The outer segment of a vertebrate rod photoreceptor that contains sealed membrane discs that are not connected to the ciliary membrane and containing rhodopsin photoreceptor proteins. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| guanylate cyclase activity | Catalysis of the reaction: GTP = 3',5'-cyclic GMP + diphosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| peptide receptor activity | Combining with an extracellular or intracellular peptide to initiate a change in cell activity. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cGMP biosynthetic process | The chemical reactions and pathways resulting in the formation of cyclic GMP, guanosine 3',5'-phosphate. |
| cGMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell. |
| detection of light stimulus involved in visual perception | The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| receptor guanylyl cyclase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses guanylyl cyclase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| regulation of rhodopsin mediated signaling pathway | Any process that modulates the frequency, rate or extent of rhodopsin-mediated signaling. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P46197 | NPR2 | Atrial natriuretic peptide receptor 2 | Bos taurus (Bovine) | PR |
| O02740 | GUCY2F | Retinal guanylyl cyclase 2 | Bos taurus (Bovine) | PR |
| Q02846 | GUCY2D | Retinal guanylyl cyclase 1 | Homo sapiens (Human) | PR |
| P20594 | NPR2 | Atrial natriuretic peptide receptor 2 | Homo sapiens (Human) | PR |
| P52785 | Gucy2e | Retinal guanylyl cyclase 1 | Mus musculus (Mouse) | PR |
| Q6VVW5 | Npr2 | Atrial natriuretic peptide receptor 2 | Mus musculus (Mouse) | PR |
| Q5SDA5 | Gucy2f | Retinal guanylyl cyclase 2 | Mus musculus (Mouse) | PR |
| P51840 | Gucy2e | Retinal guanylyl cyclase 1 | Rattus norvegicus (Rat) | PR |
| P18910 | Npr1 | Atrial natriuretic peptide receptor 1 | Rattus norvegicus (Rat) | PR |
| P16067 | Npr2 | Atrial natriuretic peptide receptor 2 | Rattus norvegicus (Rat) | PR |
| P51842 | Gucy2f | Retinal guanylyl cyclase 2 | Rattus norvegicus (Rat) | PR |
| Q09435 | gcy-1 | Receptor-type guanylate cyclase gcy-1 | Caenorhabditis elegans | PR |
| O16544 | gcy-19 | Receptor-type guanylate cyclase gcy-19 | Caenorhabditis elegans | PR |
| Q18331 | gcy-11 | Receptor-type guanylate cyclase gcy-11 | Caenorhabditis elegans | PR |
| Q10029 | gcy-2 | Receptor-type guanylate cyclase gcy-2 | Caenorhabditis elegans | PR |
| X5M8U1 | gcy-17 | Receptor-type guanylate cyclase gcy-17 | Caenorhabditis elegans | PR |
| Q23682 | gcy-5 | Receptor-type guanylate cyclase gcy-5 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFLGLGRFSR | LVLWFAAFRK | LLGHHGLASA | KFLWCLCLLS | VMSLPQQVWT | LPYKIGVVGP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WACDSLFSKA | LPEVAARLAI | ERINRDPSFD | LSYSFEYVIL | NEDCQTSRAL | SSFISHHQMA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGFIGPTNPG | YCEAASLLGN | SWDKGIFSWA | CVNYELDNKI | SYPTFSRTLP | SPIRVLVTVM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KYFQWAHAGV | ISSDEDIWVH | TANRVASALR | SHGLPVGVVL | TTGQDSQSMR | KALQRIHQAD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RIRIIIMCMH | SALIGGETQM | HLLECAHDLK | MTDGTYVFVP | YDALLYSLPY | KHTPYRVLRN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NPKLREAYDA | VLTITVESQE | KTFYQAFTEA | AARGEIPEKL | EFDQVSPLFG | TIYNSIYFIA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QAMNNAMKEN | GQAGAASLVQ | HSRNMQFHGF | NQLMRTDSNG | NGISEYVILD | TNLKEWELHS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TYTVDMEMEL | LRFGGTPIHF | PGGRPPRADA | KCWFAEGKIC | HGGIDPAFAM | MVCLTLLIAL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LSINGFAYFI | RRRINKIQLI | KGPNRILLTL | EDVTFINPHF | GSKRGSRASV | SFQITSEVQS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GRSPRLSFSS | GSLTPATYEN | SNIAIYEGDW | VWLKKFSLGD | FGDLKSIKSR | ASDVFEMMKD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRHENINPLL | GFFYDSGMFA | IVTEFCSRGS | LEDILTNQDV | KLDWMFKSSL | LLDLIKGMKY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LHHREFVHGR | LKSRNCVVDG | RFVLKVTDYG | FNDILEMLRL | SEEESSMEEL | LWTAPELLRA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PRGSRLGSFA | GDVYSFAIIM | QEVMVRGTPF | CMMDLPAQEI | INRLKKPPPV | YRPVVPPEHA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PPECLQLMKQ | CWAEAAEQRP | TFDEIFNQFK | TFNKGKKTNI | IDSMLRMLEQ | YSSNLEDLIR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ERTEELEIEK | QKTEKLLTQM | LPPSVAESLK | KGCTVEPEGF | DLVTLYFSDI | VGFTTISAMS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EPIEVVDLLN | DLYTLFDAII | GSHDVYKVET | IGDAYMVASG | LPKRNGSRHA | AEIANMSLDI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LSSVGTFKMR | HMPEVPVRIR | IGLHSGPVVA | GVVGLTMPRY | CLFGDTVNTA | SRMESTGLPY |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| RIHVSLSTVT | ILQNLSEGYE | VELRGRTELK | GKGTEETFWL | IGKKGFMKPL | PVPPPVDKDG |
| 1090 | 1100 | ||||
| QVGHGLQPVE | IAAFQRRKAE | RQLVRNKP |