Q96JG6
PR
Gene name |
VPS50 |
Protein name |
Syndetin |
Names |
Coiled-coil domain-containing protein 132, EARP/GARPII complex subunit VPS50 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55610 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96JG6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96JG6-F1 | Predicted | AlphaFoldDB |
583 variants for Q96JG6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086711 | 608 | T>del | NEDMSC; unknown pathological significance; decreased protein levels in homozygous patient cells; reduced TFRC recycling to the cell surface in homozygous patient cells [UniProt] | Yes | UniProt |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372814646 CA4344400 |
4 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374782617 CA368206174 |
5 | K>* | No |
ClinGen gnomAD |
|
|
rs752980500 CA4344403 |
8 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344402 rs767589843 |
8 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756485309 CA4344404 |
9 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1584364489 CA368206251 |
9 | T>P | No |
ClinGen Ensembl |
|
|
rs1262084572 CA368206287 |
11 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA161993473 rs1022212400 |
12 | G>C | No |
ClinGen Ensembl |
|
|
CA4344422 rs377215860 |
12 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 13 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754291801 CA4344423 |
15 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA161993478 rs568864769 |
16 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368207165 rs1352536134 |
16 | P>R | No |
ClinGen gnomAD |
|
|
CA4344424 rs568864769 |
16 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261998040 CA368207176 |
18 | E>Q | No |
ClinGen gnomAD |
|
|
rs757779296 CA4344427 |
21 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4344428 rs779682137 |
21 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903060657 CA161993520 |
25 | A>S | No |
ClinGen TOPMed |
|
|
rs1237276577 CA368207233 |
26 | I>M | No |
ClinGen gnomAD |
|
|
rs754666660 CA4344430 |
26 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA161993527 rs926474499 |
28 | S>T | No |
ClinGen Ensembl |
|
|
rs1290571946 CA368207249 |
29 | L>F | No |
ClinGen TOPMed |
|
|
rs537957263 CA4344433 |
30 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4344432 rs747891799 |
30 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749317303 COSM1698906 CA4344435 COSM1698905 |
32 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 36 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763258828 CA4344466 |
37 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA368208148 rs1246401153 |
40 | L>F | No |
ClinGen gnomAD |
|
|
COSM1093186 rs368989470 COSM1093185 CA162001579 |
41 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
CA4344467 rs766861850 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344468 rs752075691 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs371874797 CA368208201 |
45 | S>C | No |
ClinGen gnomAD |
|
|
CA162001629 COSM1093188 COSM1093187 rs371874797 |
45 | S>G | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4344471 rs539635385 |
46 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4344470 rs767083748 |
46 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs777396376 CA4344473 |
49 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372697126 CA4344474 |
52 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562851300 CA368208326 |
56 | S>C | No |
ClinGen Ensembl |
|
|
CA368208342 rs1432845007 |
57 | I>V | No |
ClinGen gnomAD |
|
|
rs1584389894 CA368208385 |
61 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768852023 CA4344478 |
67 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1316808572 CA368208528 |
72 | Y>C | No |
ClinGen gnomAD |
|
|
CA368208592 rs1473323744 |
79 | P>S | No |
ClinGen TOPMed |
|
|
CA368208598 rs1239582615 |
80 | V>I | No |
ClinGen TOPMed |
|
|
CA368208625 rs1189120583 |
84 | Q>K | No |
ClinGen TOPMed |
|
|
rs757008220 CA4344495 |
84 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750372692 CA4344497 |
87 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs758459744 CA4344498 |
88 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344499 rs185236240 |
88 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1233160525 CA368208662 |
89 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA162002372 rs928683241 |
89 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4344503 COSM3412487 rs558137904 COSM3412486 |
91 | D>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA368208673 rs1188965658 |
91 | D>N | No |
ClinGen gnomAD |
|
|
rs771275301 CA4344504 |
92 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397994207 CA368208691 |
93 | L>W | No |
ClinGen gnomAD |
|
|
rs1329296123 CA368208714 |
96 | Q>R | No |
ClinGen gnomAD |
|
|
CA368208722 rs1444566645 |
97 | Q>R | No |
ClinGen gnomAD |
|
|
rs1240915122 CA368208726 |
98 | A>T | No |
ClinGen gnomAD |
|
|
rs775881242 CA4344508 |
99 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA368210626 rs1341954307 |
100 | V>I | No |
ClinGen gnomAD |
|
|
rs1290650504 CA368210648 |
103 | K>E | No |
ClinGen gnomAD |
|
|
rs757506168 CA4344529 |
103 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746677785 | 104 | V>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224080069 CA368210682 |
108 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4344530 rs146490784 |
110 | E>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4344531 rs746185796 |
112 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA368210745 rs776001519 |
117 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344533 rs776001519 |
117 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368210762 rs1445501612 |
118 | E>* | No |
ClinGen gnomAD |
|
|
rs1297609631 CA368210793 |
122 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4344551 rs780342879 |
127 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368210822 rs780342879 |
127 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453214598 CA368210832 |
128 | G>D | No |
ClinGen gnomAD |
|
|
CA368210873 rs769084619 |
135 | I>F | No |
ClinGen ExAC gnomAD |
|
|
COSM2150702 COSM2150701 rs769084619 CA4344553 |
135 | I>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1562853969 CA368210881 |
136 | C>Y | No |
ClinGen Ensembl |
|
|
rs1364249301 CA368210887 |
137 | T>S | No |
ClinGen TOPMed |
|
|
rs1335294977 CA368210915 |
141 | R>K | No |
ClinGen TOPMed |
|
|
CA368210936 rs1231570139 |
142 | H>R | No |
ClinGen TOPMed |
|
|
CA161978115 rs375674244 |
143 | L>F | No |
ClinGen ESP |
|
|
rs370247072 CA4344571 |
151 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143512538 CA4344570 |
151 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543088722 CA161978132 |
152 | Q>K | No |
ClinGen Ensembl |
|
|
CA4344572 rs751830889 |
153 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4344573 rs755382830 |
155 | L>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584396119 CA368211034 |
157 | L>V | No |
ClinGen Ensembl |
|
|
rs748729647 CA4344575 |
159 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769412487 CA4344576 |
163 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs374485392 CA4344577 |
164 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4344578 rs201400427 |
164 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368211088 rs1462785859 |
165 | Q>R | No |
ClinGen gnomAD |
|
|
CA368211106 rs1228865889 |
168 | I>F | No |
ClinGen TOPMed |
|
|
CA4344579 rs770447789 |
168 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA161978156 rs1032243968 |
169 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1347332609 CA368211132 |
172 | K>N | No |
ClinGen gnomAD |
|
|
CA4344580 rs774070732 |
175 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1294626605 CA368211163 |
177 | I>M | No |
ClinGen gnomAD |
|
|
CA4344581 rs759198008 |
178 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771909828 CA4344582 |
178 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA368211179 rs1197959731 |
180 | L>W | No |
ClinGen gnomAD |
|
|
CA368211196 rs1176922904 |
181 | Q>E | No |
ClinGen TOPMed |
|
|
CA368211206 rs1470719553 |
182 | R>T | No |
ClinGen TOPMed |
|
|
CA368211222 rs1252083282 |
184 | D>E | No |
ClinGen TOPMed |
|
|
CA4344596 rs145621721 |
186 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA161978290 rs917745896 |
190 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 191 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362562145 CA368211272 |
192 | E>A | No |
ClinGen gnomAD |
|
|
rs748754141 CA4344597 |
192 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368211309 rs1285062805 |
195 | D>G | No |
ClinGen gnomAD |
|
|
CA368211330 rs1222142637 |
198 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766547007 CA4344609 |
199 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA368211340 rs1228668558 |
200 | I>F | No |
ClinGen TOPMed |
|
|
rs771935998 CA161978979 |
201 | Q>E | No |
ClinGen gnomAD |
|
|
rs759849081 CA4344611 |
203 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1204698407 CA368211390 |
207 | Q>E | No |
ClinGen gnomAD |
|
|
CA4344612 rs767959681 |
207 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368211395 rs1468228285 |
208 | K>Q | No |
ClinGen gnomAD |
|
|
rs756566977 CA4344614 |
212 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs753067603 CA4344613 |
212 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344615 rs764634283 |
214 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA368211449 rs1174246971 |
215 | H>Q | No |
ClinGen gnomAD |
|
|
CA368211459 rs372089506 |
217 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA161979002 rs372089506 |
217 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA368211474 rs1351362212 |
219 | I>V | No |
ClinGen TOPMed |
|
|
rs1301299348 CA368211903 |
220 | S>R | No |
ClinGen gnomAD |
|
|
rs1014486612 CA161985352 |
230 | L>S | No |
ClinGen TOPMed |
|
|
rs1377064952 CA368211982 |
232 | Q>* | No |
ClinGen TOPMed |
|
|
CA368211987 rs1311360967 |
232 | Q>H | No |
ClinGen TOPMed |
|
|
CA368212037 rs1354240919 |
238 | D>H | No |
ClinGen TOPMed |
|
|
rs754664638 CA4344673 |
239 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA161986035 rs148835608 |
245 | C>R | No |
ClinGen ESP TOPMed |
|
|
CA4344675 rs752485841 |
248 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA161986050 rs997059990 |
250 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749308564 CA4344678 |
253 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA368212168 rs1399760982 |
256 | V>G | No |
ClinGen gnomAD |
|
|
rs780332430 CA4344680 |
259 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA368212186 rs780332430 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768885678 CA4344682 |
260 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344681 rs747206649 |
260 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776743041 CA4344683 |
261 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4344684 rs370126178 |
261 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1391337683 CA368212202 |
262 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA161986134 rs1007998288 |
267 | Q>* | No |
ClinGen TOPMed |
|
|
rs1007998288 CA368212233 |
267 | Q>E | No |
ClinGen TOPMed |
|
|
rs773754909 CA4344686 |
267 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4344706 rs759622163 |
270 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344707 rs759015040 |
271 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368212281 rs1290204678 |
271 | D>N | No |
ClinGen gnomAD |
|
|
CA368212289 rs759015040 |
271 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368212298 rs1222684807 |
272 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230329283 CA368212330 |
274 | H>R | No |
ClinGen TOPMed |
|
|
CA4344710 rs760297695 |
275 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA4344709 rs775197996 |
275 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs763920614 CA4344711 |
280 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763920614 CA4344712 |
280 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757141240 CA4344713 |
281 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765210664 CA4344714 |
284 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs755082195 CA4344716 |
285 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755082195 CA368212477 |
285 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368851885 CA4344717 |
289 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368212542 rs1378535430 |
290 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368212539 rs1378535430 |
290 | L>V | No |
ClinGen gnomAD |
|
|
CA368212617 rs1371713602 |
296 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 297 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748370334 CA4344718 |
297 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1171106508 CA368212668 |
302 | T>A | No |
ClinGen TOPMed |
|
|
COSM2156000 rs1272584037 CA368212710 COSM2156001 |
308 | Q>K | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA368212727 rs1404211930 |
310 | K>E | No |
ClinGen gnomAD |
|
|
CA368212726 rs1404211930 |
310 | K>Q | No |
ClinGen gnomAD |
|
|
CA4344748 rs768286481 |
316 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368213199 rs1436984229 |
316 | V>I | No |
ClinGen gnomAD |
|
|
CA161996103 rs866636420 |
321 | Y>H | No |
ClinGen Ensembl |
|
|
CA368213265 rs1490826294 |
326 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 326 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769680294 CA4344751 |
331 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324057496 CA368213306 |
332 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368213316 rs1317717698 |
333 | W>* | No |
ClinGen TOPMed |
|
|
CA368213310 rs1268027088 |
333 | W>R | No |
ClinGen gnomAD |
|
|
CA368213321 rs1465676508 |
334 | E>* | No |
ClinGen gnomAD |
|
|
CA4344754 rs766170201 |
336 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs200944614 CA4344753 |
336 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368213353 rs1472226700 |
338 | S>R | No |
ClinGen gnomAD |
|
|
rs1562871818 CA368213367 |
340 | Y>C | No |
ClinGen Ensembl |
|
|
CA161996149 rs960504604 |
343 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562871833 CA368213402 |
345 | W>* | No |
ClinGen Ensembl |
|
|
CA161996164 rs992015846 |
345 | W>C | No |
ClinGen Ensembl |
|
|
rs1217541299 CA368213435 |
349 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760735387 CA4344756 |
351 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369737684 CA4344757 |
352 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368213462 rs1458681428 |
353 | D>H | No |
ClinGen gnomAD |
|
|
CA4344758 rs202155789 |
354 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4344759 rs199896068 |
356 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4344770 rs762587757 |
362 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368214268 rs1220165197 |
363 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368214305 rs1339555414 |
364 | I>T | No |
ClinGen gnomAD |
|
|
CA4344771 rs377270059 |
364 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs922236223 CA368214314 |
365 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs922236223 CA161998232 |
365 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368214328 rs1299198086 |
365 | G>V | No |
ClinGen TOPMed |
|
|
CA4344772 CA368214392 rs199714930 |
368 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246040612 CA368214372 |
368 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192642307 CA368214412 |
369 | T>I | No |
ClinGen gnomAD |
|
|
CA4344774 rs764131075 COSM1093197 |
373 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371166383 CA4344775 COSM1452944 |
373 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs985137273 CA161998306 |
375 | Y>* | No |
ClinGen TOPMed |
|
|
CA368214504 rs1371289075 |
375 | Y>C | No |
ClinGen gnomAD |
|
|
CA4344776 rs761908588 |
376 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs949715353 CA161998313 |
376 | I>V | No |
ClinGen Ensembl |
|
|
CA4344777 rs765322349 |
378 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA368214611 rs1430669372 |
382 | H>N | No |
ClinGen TOPMed |
|
|
CA368214669 rs1562873114 |
385 | T>I | No |
ClinGen Ensembl |
|
|
CA368214676 rs1227259371 COSM1452945 |
386 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs567528218 CA161998339 |
387 | I>T | No |
ClinGen Ensembl |
|
|
CA4344781 rs375780858 |
387 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201054996 CA4344800 |
391 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4344801 rs751922660 |
393 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA368214883 rs1268455022 |
395 | V>I | No |
ClinGen gnomAD |
|
|
CA368214902 rs1410392440 |
397 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4344804 rs753322419 |
398 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1429898754 CA368214919 |
400 | L>F | No |
ClinGen TOPMed |
|
|
CA4344805 rs755562223 |
400 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1333059477 CA368214936 |
403 | D>Y | No |
ClinGen gnomAD |
|
|
rs374290264 CA4344806 |
406 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748857889 CA4344807 |
408 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4344809 rs576918712 |
411 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209869771 CA368215005 |
412 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4344811 rs771862065 |
418 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4344812 rs368241812 |
420 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368215087 rs1255629142 |
422 | L>F | No |
ClinGen gnomAD |
|
|
CA368215081 rs547841999 |
422 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213138254 CA368215095 |
423 | M>I | No |
ClinGen gnomAD |
|
|
rs764537301 CA4344824 |
423 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 426 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4344825 rs371633008 |
428 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368215124 rs1272521039 |
428 | E>Q | No |
ClinGen gnomAD |
|
|
rs778474838 CA4344827 |
431 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344826 rs756733532 |
431 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416336410 CA368215160 |
433 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4344828 rs376939967 |
438 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369316514 CA162000200 |
439 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4344829 rs758176934 |
440 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4344830 rs779873471 |
441 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368215246 rs1431562419 |
445 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 446 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166212056 CA368215250 |
446 | V>I | No |
ClinGen gnomAD |
|
|
CA368215260 rs1369449102 |
447 | N>S | No |
ClinGen gnomAD |
|
|
CA368215284 rs1368667220 |
450 | K>R | No |
ClinGen gnomAD |
|
|
CA4344831 rs746891531 |
451 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA162004243 rs944033426 |
456 | R>Q | No |
ClinGen TOPMed |
|
|
rs545016356 CA4344854 |
456 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1479134211 CA368216268 |
460 | L>Q | No |
ClinGen gnomAD |
|
|
CA368216278 rs1470158146 |
461 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137879844 CA4344856 COSM1093199 |
468 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368216378 rs1465027618 |
468 | T>I | No |
ClinGen gnomAD |
|
|
CA368216448 rs1411044562 |
474 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 476 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368216473 rs1584447685 |
476 | S>P | No |
ClinGen Ensembl |
|
|
rs745973693 CA4344857 |
477 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4344858 rs200751674 |
479 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1388240784 CA368216540 |
481 | L>S | No |
ClinGen gnomAD |
|
|
rs1431713221 CA368216553 |
482 | Q>P | No |
ClinGen gnomAD |
|
|
CA368216564 rs1377095457 |
483 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1377095457 CA368216568 |
483 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4344877 rs747257297 |
486 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4344878 rs769043254 |
487 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481762383 CA368217418 |
488 | F>L | No |
ClinGen gnomAD |
|
|
rs1370569325 CA368217426 |
489 | M>L | No |
ClinGen TOPMed |
|
|
rs1181390266 CA368217440 |
490 | E>K | No |
ClinGen gnomAD |
|
|
rs758650885 CA4344879 |
493 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1199825 rs146809545 CA4344880 |
493 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4344882 rs770239088 |
494 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA162005326 rs537749133 |
494 | S>F | No |
ClinGen 1000Genomes |
|
|
CA4344883 rs773712115 |
495 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368217507 rs1463092002 |
496 | S>P | No |
ClinGen TOPMed |
|
|
CA4344885 rs765929974 |
497 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762444634 CA368217520 |
497 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762444634 CA4344884 |
497 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774031842 CA4344886 |
500 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1584450314 CA368217557 |
501 | K>N | No |
ClinGen Ensembl |
|
|
rs1307966457 CA368217563 |
502 | Q>R | No |
ClinGen gnomAD |
|
|
rs1355621127 CA368217575 |
504 | V>F | No |
ClinGen gnomAD |
|
|
CA4344887 rs759146476 |
505 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444886842 CA368217580 |
505 | S>P | No |
ClinGen gnomAD |
|
|
rs767227460 CA4344888 |
506 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA368217600 rs1234607384 |
508 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1305107270 CA368217607 |
509 | K>N | No |
ClinGen gnomAD |
|
|
CA4344889 rs752382926 |
510 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1484591019 CA368217616 |
511 | V>L | No |
ClinGen Ensembl |
|
|
CA368217625 rs1203724517 |
512 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA368217623 rs1203724517 |
512 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4344890 rs755983691 |
514 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344892 rs753896446 |
517 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344891 rs764058183 |
517 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA162005366 rs766295203 |
518 | C>R | No |
ClinGen gnomAD |
|
|
CA368217664 rs1194522233 |
518 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA368217670 rs1252010256 |
519 | S>G | No |
ClinGen TOPMed |
|
|
CA162005387 rs968675973 |
523 | P>Q | No |
ClinGen Ensembl |
|
|
rs747224082 CA4344895 |
528 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 528 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200076275 CA368217739 |
529 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200076275 CA4344896 |
529 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1245712553 CA368217751 |
530 | H>Q | No |
ClinGen TOPMed |
|
|
rs1412101408 CA368217748 |
530 | H>R | No |
ClinGen gnomAD |
|
|
CA162005404 rs371073974 |
531 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1349686667 CA368217764 |
532 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1187815615 CA368217796 |
536 | E>D | No |
ClinGen Ensembl |
|
|
CA368217800 rs1286209515 |
537 | D>Y | No |
ClinGen TOPMed |
|
|
CA368217831 rs1213537608 |
542 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA368217837 rs1562878369 |
542 | N>K | No |
ClinGen Ensembl |
|
|
rs1584450485 CA368217835 |
542 | N>S | No |
ClinGen Ensembl |
|
|
CA368217842 rs748456599 |
543 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748456599 CA4344898 |
543 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA162005430 rs748456599 |
543 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751546009 CA4344915 |
545 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010308587 CA162006695 |
548 | E>Q | No |
ClinGen Ensembl |
|
|
CA4344916 rs755100621 |
549 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368218075 rs1584453798 |
552 | S>G | No |
ClinGen Ensembl |
|
|
rs1562879656 CA368218105 |
554 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 555 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335378015 CA368218118 |
555 | Q>H | No |
ClinGen gnomAD |
|
|
rs1562879672 CA368218132 |
557 | Y>C | No |
ClinGen Ensembl |
|
|
rs1265974629 CA368218238 |
564 | P>L | No |
ClinGen gnomAD |
|
|
rs756448007 CA4344920 |
567 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4344919 rs752972917 |
567 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA368218299 rs1262620713 |
569 | R>* | No |
ClinGen gnomAD |
|
|
rs778150017 CA4344921 |
569 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1185499033 CA368218314 |
570 | D>G | No |
ClinGen gnomAD |
|
|
CA368218307 rs1562879717 |
570 | D>N | No |
ClinGen Ensembl |
|
|
rs368505711 CA4344922 |
571 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1415696389 CA368218357 |
573 | D>V | No |
ClinGen gnomAD |
|
|
rs1460862552 CA368218398 |
576 | T>A | No |
ClinGen gnomAD |
|
|
CA368218405 rs1231804679 |
576 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 577 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4344924 rs779485432 |
578 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA162006732 rs1000646043 |
578 | D>N | No |
ClinGen Ensembl |
|
|
rs1386682309 CA368218485 |
583 | S>R | No |
ClinGen gnomAD |
|
|
rs754143056 CA4344939 |
583 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 583 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4344940 rs757644684 |
584 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA368218530 rs1333598615 |
585 | S>P | No |
ClinGen gnomAD |
|
|
rs779281256 CA4344941 |
585 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4344942 COSM1568804 rs537217820 |
586 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1421343354 CA368218535 |
586 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1489737726 CA368218543 |
587 | E>V | No |
ClinGen gnomAD |
|
|
rs779751321 CA4344944 |
588 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM159786 CA162007751 rs902967499 |
589 | L>V | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 591 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4344946 rs768378408 |
591 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4344947 rs776439567 |
592 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1479912003 CA368218616 |
598 | S>C | No |
ClinGen TOPMed |
|
|
CA368218619 rs1211263429 |
598 | S>T | No |
ClinGen TOPMed |
|
|
CA4344949 rs769686941 |
602 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA162007763 rs1012240831 |
603 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 609 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766330936 CA4344952 |
614 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368211511 rs1301706188 |
621 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 624 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161988359 rs1011943056 |
630 | P>L | No |
ClinGen TOPMed |
|
|
rs199629360 CA161988364 |
631 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 639 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758851279 CA4344985 |
639 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259443393 CA368211749 |
639 | M>V | No |
ClinGen gnomAD |
|
|
rs1176397204 CA368211763 |
641 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368211812 rs1373729241 |
647 | L>F | No |
ClinGen gnomAD |
|
|
CA161988397 rs866499229 |
649 | A>T | No |
ClinGen Ensembl |
|
|
rs780886247 CA4344989 |
650 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752176627 CA4344990 |
651 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4344991 rs755738874 |
652 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4344993 rs777303660 |
653 | F>I | No |
ClinGen ExAC gnomAD |
|
| rs771091392 | 654 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770778444 CA4344995 |
656 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1093205 rs548286359 CA4344994 |
656 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs778807739 CA4344996 |
659 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA368212274 rs1194460356 |
660 | L>V | No |
ClinGen gnomAD |
|
|
CA368212314 rs1405382799 |
663 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4345019 rs748196364 |
666 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368212363 rs1351378540 |
667 | L>P | No |
ClinGen TOPMed |
|
|
CA368212375 rs1412051558 |
668 | S>N | No |
ClinGen gnomAD |
|
|
rs1393326423 CA368212390 |
669 | S>C | No |
ClinGen gnomAD |
|
|
rs1441213730 CA368212396 COSM1093207 |
669 | S>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs985334797 CA161994645 |
670 | S>G | No |
ClinGen TOPMed |
|
|
CA4345020 rs769834055 |
673 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4345021 rs773472639 |
674 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1270762043 CA368212465 |
675 | T>A | No |
ClinGen gnomAD |
|
|
CA4345023 rs771305740 COSM3669772 |
677 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 682 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368212583 rs1358855175 |
683 | L>R | No |
ClinGen TOPMed |
|
|
CA4345024 rs774804173 |
684 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs774716211 CA4345042 |
688 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368212888 COSM485746 rs1371486109 |
691 | D>G | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA368212899 rs1331706827 |
693 | T>A | No |
ClinGen TOPMed |
|
|
CA368212906 rs1285083261 |
694 | A>S | No |
ClinGen gnomAD |
|
|
CA368212913 rs1489281686 |
695 | T>I | No |
ClinGen gnomAD |
|
|
rs1489281686 CA368212915 |
695 | T>K | No |
ClinGen gnomAD |
|
|
CA368212923 rs1257347902 |
697 | T>A | No |
ClinGen gnomAD |
|
|
CA4345043 rs746229698 |
697 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4345044 rs373349963 |
699 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761124862 CA4345046 |
700 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368212967 rs1432252600 |
703 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs889679635 CA161998569 |
704 | E>Q | No |
ClinGen Ensembl |
|
|
CA368212985 rs1416440006 |
706 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs533219036 CA4345047 |
706 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4345048 rs776072470 |
712 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280297737 CA368213031 |
713 | H>Y | No |
ClinGen gnomAD |
|
|
CA4345049 rs761326181 |
716 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4345051 rs549768202 |
719 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1248895939 CA368213078 |
721 | D>N | No |
ClinGen gnomAD |
|
|
CA368213082 rs1584486888 |
721 | D>V | No |
ClinGen Ensembl |
|
|
CA368213085 rs1180785739 |
722 | T>A | No |
ClinGen TOPMed |
|
|
CA4345053 rs376216197 |
722 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs2106432 CA368213091 |
723 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749310538 CA4345057 |
724 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368213119 rs1354923319 |
727 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 729 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436538183 CA368213132 |
729 | R>T | No |
ClinGen gnomAD |
|
|
CA368213139 rs1311889682 |
730 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4345059 rs377166540 |
730 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746123532 CA368213141 |
731 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746123532 CA4345060 |
731 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1391687969 CA368213150 |
732 | A>G | No |
ClinGen gnomAD |
|
|
CA4345061 rs772449766 |
733 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA368213175 rs1438858080 |
736 | L>W | No |
ClinGen gnomAD |
|
|
rs1172618935 CA368213518 |
737 | V>L | No |
ClinGen TOPMed |
|
|
CA368213539 rs1584495317 |
740 | A>S | No |
ClinGen Ensembl |
|
|
CA368213544 rs1260426974 |
741 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 746 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4345085 rs781658045 |
748 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781658045 CA368213600 |
748 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4345086 rs548377466 |
749 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368213697 rs1193761202 |
763 | Q>* | No |
ClinGen TOPMed |
|
|
rs1338303959 CA368213709 |
764 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 765 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474722372 CA368213725 |
766 | Y>C | No |
ClinGen gnomAD |
|
|
CA4345106 rs770224866 |
770 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs191341151 CA4345109 |
773 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4345108 rs191341151 COSM1193292 |
773 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368213806 rs767399519 |
777 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4345111 rs767399519 |
777 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368213804 rs1305766443 |
777 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 778 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 780 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4345112 rs771879979 |
784 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4345115 rs760560920 |
790 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4345114 rs760560920 |
790 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368213899 rs1202687211 |
791 | Y>C | No |
ClinGen TOPMed |
|
|
rs1473416753 CA368213924 |
794 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 796 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 796 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368213967 rs1239008667 |
800 | N>H | No |
ClinGen gnomAD |
|
|
rs1257310634 CA368214029 |
803 | W>C | No |
ClinGen TOPMed |
|
|
rs776698916 CA4345117 |
813 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4345118 rs762929723 |
814 | I>V | No |
ClinGen ExAC |
|
|
CA368214286 rs1306342219 |
815 | Y>S | No |
ClinGen TOPMed |
|
|
CA162004418 rs368046857 |
816 | V>E | No |
ClinGen ESP TOPMed |
|
|
rs1177355220 CA368214388 |
820 | L>F | No |
ClinGen gnomAD |
|
|
CA162006161 rs952095493 |
822 | E>G | No |
ClinGen Ensembl |
|
|
rs758048672 CA4345150 |
824 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867236376 CA162006175 |
836 | R>G | No |
ClinGen TOPMed |
|
|
rs1393256485 CA368215430 |
836 | R>K | No |
ClinGen gnomAD |
|
|
CA4345152 rs746709850 |
836 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs768307939 CA4345153 COSM1093209 |
838 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758457222 CA162006184 |
838 | R>H | No |
ClinGen Ensembl |
|
|
rs776448439 CA4345154 |
839 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA368215473 rs1278691222 |
843 | V>A | No |
ClinGen gnomAD |
|
|
CA368215470 rs1216426164 |
843 | V>L | No |
ClinGen TOPMed |
|
|
rs1377036262 CA368215481 |
845 | N>D | No |
ClinGen TOPMed |
|
|
rs747921293 CA4345155 |
846 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4345156 rs373044128 |
849 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368215521 rs1377713717 |
850 | H>R | No |
ClinGen TOPMed |
|
|
CA368215519 rs1355875717 |
850 | H>Y | No |
ClinGen gnomAD |
|
|
CA4345158 rs759596886 |
852 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4345159 rs760483953 |
853 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368215539 rs760483953 |
853 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4345160 rs775657668 |
853 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186224059 CA368215557 |
856 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766556971 CA162006208 |
856 | N>T | No |
ClinGen Ensembl |
|
|
CA368215562 rs867330941 |
857 | R>* | No |
ClinGen Ensembl |
|
|
CA162006209 rs867330941 |
857 | R>G | No |
ClinGen Ensembl |
|
|
CA162006211 COSM1093210 rs867866841 |
857 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1170678730 CA368215569 |
858 | T>I | No |
ClinGen TOPMed |
|
|
rs764244975 CA4345162 |
859 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754172300 CA4345163 |
860 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 861 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751772812 CA4345164 |
861 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4345176 rs200136574 |
864 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs61741161 RCV000972769 CA4345177 |
865 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749260860 CA4345178 |
866 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1397555645 CA368216347 |
870 | S>G | No |
ClinGen gnomAD |
|
|
CA368216355 rs770884921 |
870 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs770884921 CA4345179 |
870 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA368216371 rs1377131967 |
871 | N>S | No |
ClinGen TOPMed |
|
|
CA4345181 rs760683746 |
873 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4345180 rs775498015 |
873 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760683746 CA368216405 |
873 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368216411 rs1310117240 |
874 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1449353053 CA368216414 |
874 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 875 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4345183 rs768855317 |
878 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs768855317 CA4345182 |
878 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs2374639 CA368216479 |
879 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765747842 CA4345185 |
879 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA368216482 rs2374639 |
879 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206524893 CA368216558 |
883 | Q>H | No |
ClinGen TOPMed |
|
|
CA368216584 COSM2156924 rs1178818446 |
885 | L>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs750930878 CA4345186 |
887 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1451963837 CA368216615 |
888 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs762941565 CA4345187 |
891 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA368216638 rs762941565 |
891 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA368216636 rs1198155107 |
891 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4345188 rs767018627 |
892 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377675568 COSM3431879 CA4345190 |
893 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377675568 CA4345189 |
893 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395453962 CA368216651 |
894 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1001689605 CA162007330 |
896 | P>T | No |
ClinGen Ensembl |
|
|
rs752338408 CA4345192 |
897 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368216670 rs1332227250 |
897 | I>V | No |
ClinGen gnomAD |
|
|
CA4345194 rs777502907 |
898 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs978880747 CA162007338 |
899 | D>G | No |
ClinGen Ensembl |
|
|
CA4345195 rs749101550 |
902 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236020155 CA368216711 |
903 | V>I | No |
ClinGen gnomAD |
|
|
CA368216725 rs1268815024 |
905 | T>A | No |
ClinGen gnomAD |
|
|
CA368216729 rs1317622331 |
905 | T>S | No |
ClinGen gnomAD |
|
|
rs778826182 CA4345197 |
906 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4345196 rs757128313 |
906 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA368216740 rs1208701327 |
907 | I>N | No |
ClinGen gnomAD |
|
|
CA4345198 rs747107849 |
909 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 911 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776891835 CA4345201 |
912 | L>V | No |
ClinGen ExAC |
|
|
CA4345202 rs748360847 |
915 | N>S | No |
ClinGen ExAC |
|
|
rs1478392978 CA368216808 |
917 | M>T | No |
ClinGen TOPMed |
|
|
rs377485014 CA4345203 |
917 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1402702095 CA368216814 |
918 | E>Q | No |
ClinGen gnomAD |
|
|
rs548574411 CA4345206 |
919 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4345205 rs200300253 |
919 | R>W | Variant assessed as Somatic; 4.791e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368216848 rs1562904017 |
922 | K>T | No |
ClinGen Ensembl |
|
|
rs1316776745 CA368216896 |
924 | H>R | No |
ClinGen gnomAD |
|
|
CA162007409 rs995314357 |
924 | H>Y | No |
ClinGen TOPMed |
|
|
rs533156701 CA4345219 |
929 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61745719 CA4345220 |
929 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368217210 rs1323068946 |
930 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368217222 rs1236236261 |
932 | L>M | No |
ClinGen gnomAD |
|
|
CA368217230 rs770087064 |
933 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770087064 CA4345221 |
933 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs773577747 CA4345223 |
937 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4345222 rs773577747 |
937 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771468848 CA4345224 |
939 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 939 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759917313 CA4345226 |
943 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4345228 rs759917313 |
943 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759917313 CA4345227 |
943 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334469339 CA368217298 |
944 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368217303 rs1257113136 |
945 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 953 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 953 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA162008689 rs373958295 |
955 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763730130 CA4345230 |
956 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420858264 CA368217419 |
957 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs368407161 CA162008718 |
958 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA162008722 rs796506232 |
959 | I>V | No |
ClinGen Ensembl |
|
|
CA162008735 rs766912614 |
960 | D>N | No |
ClinGen Ensembl |
|
|
CA368217486 rs1357788293 |
962 | P>T | No |
ClinGen gnomAD |
|
|
rs753547704 CA4345231 |
963 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs753547704 CA368217503 |
963 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4345233 rs764982937 |
965 | R>L | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q96JG6
[MIM: 619685]: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC)
An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur. {ECO:0000269|PubMed:34037727}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur. {ECO:0000269|PubMed:34037727}. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| EARP complex | A quatrefoil tethering complex required for endocytic recycling. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytic recycling | The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQKIKSLMTR | QGLKSPQESL | SDLGAIESLR | VPGKEEFREL | REQPSDPQAE | QELINSIEQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YFSVDSFDIV | KYELEKLPPV | LNLQELEAYR | DKLKQQQAAV | SKKVADLILE | KQPAYVKELE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RVTSLQTGLQ | LAAVICTNGR | RHLNIAKEGF | TQASLGLLAN | QRKRQLLIGL | LKSLRTIKTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QRTDVRLSEM | LEEEDYPGAI | QLCLECQKAA | STFKHYSCIS | ELNSKLQDTL | EQIEEQLDVA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSKICKNFDI | NHYTKVQQAY | RLLGKTQTAM | DQLHMHFTQA | IHNTVFQVVL | GYVELCAGNT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DTKFQKLQYK | DLCTHVTPDS | YIPCLADLCK | ALWEVMLSYY | RTMEWHEKHD | NEDTASASEG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SNMIGTEETN | FDRGYIKKKL | EHGLTRIWQD | VQLKVKTYLL | GTDLSIFKYD | DFIFVLDIIS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLMQVGEEFC | GSKSEVLQES | IRKQSVNYFK | NYHRTRLDEL | RMFLENETWE | LCPVKSNFSI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LQLHEFKFME | QSRSPSVSPS | KQPVSTSSKT | VTLFEQYCSG | GNPFEIQANH | KDEETEDVLA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SNGYESDEQE | KSAYQEYDSD | SDVPEELKRD | YVDEQTGDGP | VKSVSRETLK | SRKKSDYSLN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KVNAPILTNT | TLNVIRLVGK | YMQMMNILKP | IAFDVIHFMS | QLFDYYLYAI | YTFFGRNDSL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ESTGLGLSSS | RLRTTLNRIQ | ESLIDLEVSA | DPTATLTAAE | ERKEKVPSPH | LSHLVVLTSG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DTLYGLAERV | VATESLVFLA | EQFEFLQPHL | DAVMPAVKKP | FLQQFYSQTV | STASELRKPI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YWIVAGKALD | YEQMLLLMAN | VKWDVKEIMS | QHNIYVDALL | KEFEQFNRRL | NEVSKRVRIP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LPVSNILWEH | CIRLANRTIV | EGYANVKKCS | NEGRALMQLD | FQQFLMKLEK | LTDIRPIPDK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EFVETYIKAY | YLTENDMERW | IKEHREYSTK | QLTNLVNVCL | GSHINKKARQ | KLLAAIDDID |
| RPKR |