Q9UHX3
PR
Gene name |
ADGRE2 |
Protein name |
Adhesion G protein-coupled receptor E2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:30817 |
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
4 structures for Q9UHX3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2BO2 | X-ray | 260 A | A/B | 25-260 | PDB |
| 2BOU | X-ray | 190 A | PDB | ||
| 2BOX | X-ray | 250 A | A | 25-260 | PDB |
| AF-Q9UHX3-F1 | Predicted | AlphaFoldDB |
756 variants for Q9UHX3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_078578 RCV000207461 CA065252 rs199718602 |
492 | C>Y | Vibratory urticaria VBU; affects the regulation of mast cells degranulation; results in increased vibration-induced mast cells degranulation; no effect on localization to plasma membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs375427337 RCV000879917 RCV002495337 |
565 | Q>missing | Vibratory urticaria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757681429 CA9258364 |
2 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768019293 CA9258365 |
2 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs546686579 CA9258363 |
4 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404466751 rs1371242295 |
5 | V>D | No |
ClinGen gnomAD |
|
|
rs763363199 CA9258361 |
7 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404466723 rs775629087 |
7 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258360 rs775629087 |
7 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404465940 rs1401669875 |
11 | A>V | No |
ClinGen gnomAD |
|
|
TCGA novel CA305726947 rs955908891 |
12 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1170880459 CA404465917 |
13 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776981841 CA9258338 |
15 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766359806 CA9258337 |
17 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258335 rs772958515 |
18 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA9258333 rs772168079 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266712393 CA404465830 |
20 | G>E | No |
ClinGen TOPMed |
|
|
CA404465822 rs1254947596 |
21 | A>P | No |
ClinGen gnomAD |
|
|
rs140828431 CA9258331 |
22 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768611033 CA9258330 |
24 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748886583 CA9258329 |
25 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs373761237 CA9258328 |
26 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769125578 CA9258327 |
27 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305726897 rs1045143210 |
27 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404465731 rs1555790394 |
27 | R>S | No |
ClinGen Ensembl |
|
|
rs1281043057 CA404465727 |
28 | G>S | No |
ClinGen gnomAD |
|
|
rs373903640 CA9258308 |
29 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9258307 COSM991965 rs770498865 |
30 | A>V | Variant assessed as Somatic; 9.24e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA404465636 rs200392624 |
31 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258305 rs200392624 |
31 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748644681 CA9258306 |
31 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA404465634 rs1413736841 |
32 | W>R | No |
ClinGen TOPMed |
|
|
CA9258304 rs149725020 |
33 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs912959685 CA305726511 |
34 | P>H | No |
ClinGen Ensembl |
|
|
CA404465586 rs1362162744 |
35 | Q>R | No |
ClinGen TOPMed |
|
|
rs369172417 CA305726506 |
36 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139612102 CA9258303 |
36 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756336987 CA9258301 |
37 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA404465548 rs1193386805 |
38 | S>P | No |
ClinGen gnomAD |
|
|
rs767699480 CA9258299 |
39 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA305726471 rs201271879 |
41 | N>D | No |
ClinGen Ensembl |
|
|
rs796249348 CA305726466 |
41 | N>S | No |
ClinGen Ensembl |
|
|
CA404465495 rs1215554261 |
42 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404465486 rs1599887232 |
43 | T>P | No |
ClinGen Ensembl |
|
|
rs751483105 CA9258297 |
44 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1216884776 CA404465471 |
44 | A>V | No |
ClinGen gnomAD |
|
|
CA9258296 rs764094291 |
45 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs928575810 CA305726432 |
46 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM3388651 rs142343910 CA9258295 |
46 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA305726415 rs142343910 |
46 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769522217 CA9258293 |
47 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs373171000 CA305726402 |
47 | C>Y | No |
ClinGen ESP TOPMed |
|
|
CA9258292 rs759188221 |
48 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169112111 CA404465363 |
52 | S>R | No |
ClinGen gnomAD |
|
|
CA9258291 rs776327314 |
54 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305726389 rs1026852763 |
56 | E>G | No |
ClinGen Ensembl |
|
|
rs770372103 CA9258290 |
58 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171613958 CA404465285 |
59 | T>A | No |
ClinGen TOPMed |
|
|
CA9258289 rs746529322 |
59 | T>I | No |
ClinGen ExAC |
|
|
rs1381943813 CA404465266 |
60 | T>I | No |
ClinGen TOPMed |
|
|
rs1420076845 CA404465258 |
61 | P>R | No |
ClinGen TOPMed |
|
|
CA9258285 rs780435688 |
62 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs746075135 CA9258284 |
62 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757942415 CA305726361 |
62 | M>T | No |
ClinGen Ensembl |
|
|
rs746075135 CA9258283 |
62 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781576897 CA9258282 |
63 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs575645810 CA9258280 |
64 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9258278 rs371292166 |
65 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404464490 rs1211948215 |
67 | D>E | No |
ClinGen gnomAD |
|
|
COSM289442 rs765071211 CA9258276 |
67 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9258246 rs201803353 |
67 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9258245 rs747246737 |
68 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893305633 CA404464426 |
70 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1010286043 CA305725292 |
70 | E>K | No |
ClinGen TOPMed |
|
|
CA404464421 rs1215417977 |
71 | C>G | No |
ClinGen TOPMed |
|
|
rs772128568 CA9258242 |
72 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9258241 rs373694959 |
73 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184851918 CA305725282 |
73 | T>I | No |
ClinGen 1000Genomes |
|
|
rs778777170 CA9258240 |
74 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM181457 rs754889485 CA9258239 |
75 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779820386 CA9258237 |
76 | K>T | No |
ClinGen ExAC |
|
|
CA305725272 rs942824515 |
77 | V>A | No |
ClinGen TOPMed |
|
|
rs139470594 CA9258235 |
78 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305725270 rs747287302 |
79 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258234 COSM3388650 rs747287302 |
79 | C>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767079042 CA305725268 |
79 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 79 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370033223 CA9258232 CA305725264 |
80 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395735738 CA404464283 |
81 | K>R | No |
ClinGen TOPMed |
|
|
rs1440588897 CA404464256 |
82 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9258231 rs201617124 |
83 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1259954638 CA404464232 |
84 | D>N | No |
ClinGen gnomAD |
|
|
rs760084534 CA9258229 |
86 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1486426692 CA404464067 |
92 | Y>N | No |
ClinGen gnomAD |
|
|
CA404464023 rs1326460291 |
93 | D>E | No |
ClinGen TOPMed |
|
|
CA9258227 rs200777322 |
93 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235127973 CA404464016 |
94 | C>R | No |
ClinGen TOPMed |
|
|
CA9258225 rs115448457 |
95 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305725241 rs796093863 |
98 | P>A | No |
ClinGen Ensembl |
|
|
rs1316691934 CA404463914 |
99 | G>R | No |
ClinGen gnomAD |
|
|
rs1383522305 CA404463855 |
101 | E>D | No |
ClinGen gnomAD |
|
|
rs1293053415 CA404463868 |
101 | E>K | No |
ClinGen gnomAD |
|
|
rs1293053415 CA404463864 |
101 | E>Q | No |
ClinGen gnomAD |
|
|
CA404463845 rs1362474906 |
102 | P>A | No |
ClinGen gnomAD |
|
|
rs61732003 CA9258223 |
103 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305725234 rs990641943 |
105 | G>R | No |
ClinGen TOPMed |
|
|
rs1438366134 CA404463756 |
106 | A>T | No |
ClinGen gnomAD |
|
|
CA404463744 rs1182717641 |
107 | K>E | No |
ClinGen TOPMed |
|
|
rs1251250166 CA404463689 |
109 | F>L | No |
ClinGen TOPMed |
|
|
rs1465189039 CA404463656 |
110 | K>R | No |
ClinGen gnomAD |
|
|
rs1172859946 CA404463572 |
112 | E>D | No |
ClinGen gnomAD |
|
|
rs749211671 CA404463524 |
113 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258219 rs202025706 |
114 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404463442 rs750214500 |
116 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258217 rs750214500 |
116 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9258214 rs751263352 |
119 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258196 rs371733444 |
120 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9258194 rs200783500 |
122 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368628691 CA305716607 |
123 | C>W | No |
ClinGen Ensembl |
|
|
CA9258193 rs764854362 |
123 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404462089 rs1183101283 |
124 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419202967 CA404462051 |
127 | P>S | No |
ClinGen gnomAD |
|
|
CA9258191 rs1555788555 |
129 | L>V | No |
ClinGen Ensembl |
|
|
rs767761826 CA9258187 |
134 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767761826 CA9258188 |
134 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599867369 CA404461943 |
135 | T>P | No |
ClinGen Ensembl |
|
|
CA9258185 rs774488166 |
137 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764329349 CA9258184 |
139 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354971232 CA404461867 |
141 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404461869 rs1354971232 |
141 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9258180 rs745784182 |
142 | S>R | No |
ClinGen ExAC |
|
|
CA9258179 rs770570753 |
142 | S>R | No |
ClinGen ExAC |
|
|
CA9258173 CA9258171 rs10418767 |
143 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747846206 CA9258174 |
143 | Y>F | No |
ClinGen ExAC TOPMed |
|
|
rs777520817 CA9258177 |
143 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
rs777520817 CA9258176 |
143 | Y>N | No |
ClinGen ExAC TOPMed |
|
|
CA9258175 rs747846206 |
143 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
rs568607258 CA9258168 |
144 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356342254 CA404461825 |
144 | T>K | No |
ClinGen gnomAD |
|
|
CA404461827 rs1356342254 |
144 | T>M | No |
ClinGen gnomAD |
|
|
rs568607258 CA9258167 |
144 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568607258 CA9258169 |
144 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9258159 rs763127423 |
145 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs763127423 CA9258162 |
145 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs763127423 CA404461812 |
145 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs143325445 CA9258157 |
146 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9258158 rs143325445 |
146 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776396018 CA9258155 |
146 | Q>L | No |
ClinGen ExAC |
|
|
CA9258156 rs776396018 |
146 | Q>R | No |
ClinGen ExAC |
|
|
CA9258149 rs778643418 |
147 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs773115202 CA9258151 |
147 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770926659 CA9258152 |
147 | C>S | No |
ClinGen ExAC |
|
|
rs773115202 CA404461786 |
147 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258148 rs778643418 |
147 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs773115202 CA9258150 |
147 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767986830 CA9258146 |
148 | L>M | No |
ClinGen ExAC |
|
|
rs1599867065 CA404461778 |
148 | L>Q | No |
ClinGen Ensembl |
|
|
CA9258144 rs748860655 |
149 | P>R | No |
ClinGen ExAC |
|
|
CA404461725 rs1457839300 |
152 | K>M | No |
ClinGen gnomAD |
|
|
rs757739306 CA9258142 CA404461723 |
152 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1457839300 CA404461729 |
152 | K>T | No |
ClinGen gnomAD |
|
|
CA9258141 rs12976493 |
153 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs12985807 CA9258140 |
154 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257827940 CA404461701 |
154 | K>N | No |
ClinGen gnomAD |
|
|
CA9258139 rs758816267 |
155 | P>S | No |
ClinGen ExAC |
|
|
CA404461672 rs1191969931 |
156 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404461686 rs1311387954 |
156 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 157 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263575541 CA404461643 |
158 | P>L | No |
ClinGen gnomAD |
|
|
rs1263575541 CA404461639 |
158 | P>R | No |
ClinGen gnomAD |
|
|
CA248420 rs12976472 RCV000190293 |
160 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9258136 rs753934239 |
162 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA9258111 rs762661111 |
164 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762661111 CA404461325 |
164 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404461311 rs1453625204 |
165 | N>S | No |
ClinGen gnomAD |
|
|
rs775177021 CA9258110 |
166 | E>K | No |
ClinGen ExAC |
|
|
CA404461284 rs1176020125 |
167 | C>* | No |
ClinGen TOPMed |
|
|
CA9258107 rs773667126 |
167 | C>F | No |
ClinGen ExAC TOPMed |
|
|
CA9258109 rs149621907 |
167 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9258108 rs149621907 |
167 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404461278 rs1414473356 |
168 | T>N | No |
ClinGen TOPMed |
|
|
CA9258106 rs772549586 |
168 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563655526 CA9258104 COSM3783192 CA9258103 |
170 | G>R | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
rs1202533415 CA404461247 |
171 | Q>P | No |
ClinGen gnomAD |
|
|
rs191200474 CA9258101 |
175 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191200474 CA9258100 |
175 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 177 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9258098 rs61732009 RCV000968387 |
178 | T>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs61732009 CA9258099 |
178 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404461179 rs751517438 |
179 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258096 rs751517438 |
179 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404461169 rs1235402198 |
180 | C>* | No |
ClinGen gnomAD |
|
|
rs763935066 CA9258095 |
180 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446956397 CA404461162 |
182 | N>H | No |
ClinGen gnomAD |
|
|
rs1373250094 CA404461158 |
182 | N>S | No |
ClinGen gnomAD |
|
|
CA305715509 rs900927252 |
183 | N>K | No |
ClinGen Ensembl |
|
|
CA404461145 rs1278249675 |
184 | V>E | No |
ClinGen gnomAD |
|
|
CA404461147 CA9258094 rs762665698 |
184 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258092 rs762665698 |
184 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258091 rs764899381 |
185 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9258088 rs776091111 |
185 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9258090 rs764899381 |
185 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776091111 CA9258089 |
185 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA404461132 rs1308301401 |
187 | Y>H | No |
ClinGen gnomAD |
|
|
RCV000884145 rs61732010 CA9258086 |
188 | Q>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9258087 rs553498034 |
188 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374363886 CA9258085 |
189 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374363886 CA9258084 |
189 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404461112 rs749648162 |
190 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559308272 CA9258082 |
190 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9258083 rs749648162 |
190 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746131246 CA9258080 |
191 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs781415834 CA9258079 |
192 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258078 rs757339258 |
192 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258076 rs777572849 |
193 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404461090 rs1442396931 |
194 | G>D | No |
ClinGen TOPMed |
|
|
rs752508886 CA9258074 |
195 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305715446 rs752508886 |
195 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9258073 rs568761526 |
196 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1282826543 CA404461079 |
196 | Q>K | No |
ClinGen gnomAD |
|
|
CA9258072 rs200389277 |
197 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201778653 CA9258071 |
199 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314290653 CA404461051 |
200 | G>E | No |
ClinGen gnomAD |
|
|
CA404461046 rs760107542 |
201 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs760107542 CA9258069 |
201 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs769068081 CA9258067 |
202 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404461042 rs769068081 |
202 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556958859 CA9258064 |
203 | N>S | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1182641795 CA404461030 |
204 | G>D | No |
ClinGen gnomAD |
|
|
CA404461033 rs1259898636 |
204 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1240715112 CA404461024 |
205 | P>Q | No |
ClinGen gnomAD |
|
|
CA404461025 rs1215619004 |
205 | P>S | No |
ClinGen TOPMed |
|
|
CA404461014 rs1318064362 |
206 | N>K | No |
ClinGen gnomAD |
|
|
rs1273033339 CA404461012 |
207 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1273033339 CA404461013 |
207 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs746073461 CA9258062 |
208 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770972052 CA9258060 |
209 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770972052 CA404461000 |
209 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370492111 CA9258059 |
210 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777714572 CA9258058 |
210 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375765526 CA9258011 |
213 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305714938 rs1049778808 |
213 | V>M | No |
ClinGen TOPMed |
|
|
CA404460854 rs751133645 CA9258007 |
215 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs369290204 CA9258008 |
215 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763742787 CA9258006 |
216 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs755508013 CA9258005 |
216 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754429597 CA9258004 |
217 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404460833 rs1158564169 |
217 | S>R | No |
ClinGen gnomAD |
|
|
CA9258003 rs766597744 |
218 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA404460820 rs1160749587 |
219 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404460795 rs1256396531 |
220 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767749809 CA9258000 |
221 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA404460780 rs1407643674 |
221 | H>R | No |
ClinGen TOPMed |
|
|
CA404460762 rs1204548824 |
222 | Q>H | No |
ClinGen gnomAD |
|
|
CA9257999 rs762072283 |
222 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA404460745 rs1294669929 |
223 | C>W | No |
ClinGen TOPMed |
|
|
rs774386346 CA9257998 |
224 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768793365 CA9257997 |
225 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404460693 rs1229108498 |
227 | T>I | No |
ClinGen gnomAD |
|
|
rs918616954 CA305714853 |
228 | V>A | No |
ClinGen Ensembl |
|
|
CA9257994 rs370870110 |
228 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9257993 rs370870110 |
228 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9257995 rs370870110 |
228 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305714848 rs973129717 |
229 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 231 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9257991 rs770684140 |
232 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs377729863 CA9257988 |
233 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1348542970 CA404460595 COSM1189911 |
235 | S>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs756390207 CA9257985 |
236 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569959333 CA9257987 |
236 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1412323219 CA404460566 |
237 | S>R | No |
ClinGen TOPMed |
|
|
rs146146996 COSM110444 CA305714829 |
238 | C>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9257984 rs750767967 |
239 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257983 rs548170466 |
239 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473569335 CA404460534 |
240 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs762021109 CA9257982 |
240 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA404460536 rs762021109 |
240 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751834080 CA9257981 |
241 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751834080 CA404460532 |
241 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146397026 CA9257979 |
241 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404460530 rs146397026 |
241 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146397026 CA9257980 |
241 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1355697005 CA404460527 |
242 | P>S | No |
ClinGen TOPMed |
|
|
CA9257978 rs775247263 |
243 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1209239626 COSM438744 CA404460514 |
244 | W>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404460512 rs1281904847 COSM438744 |
244 | W>* | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA404460508 rs1468143249 |
245 | K>E | No |
ClinGen gnomAD |
|
|
CA9257977 rs769792500 |
246 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404460501 rs769792500 |
246 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404460490 rs1409452250 |
247 | R>S | No |
ClinGen gnomAD |
|
|
rs759439293 CA9257976 |
248 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9257974 rs770915022 |
249 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1390986 rs374318452 CA9257971 |
251 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374318452 CA9257972 |
251 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404460465 rs1187044074 |
252 | N>D | No |
ClinGen TOPMed |
|
|
rs756616750 CA9257968 |
252 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA404460463 rs1235834069 |
252 | N>T | No |
ClinGen TOPMed |
|
|
rs750998348 CA9257967 |
253 | N>D | No |
ClinGen ExAC TOPMed |
|
|
rs781525205 CA9257966 |
253 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA404460437 rs1321030202 |
256 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9257964 rs751711065 |
257 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931605009 CA305714753 |
257 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA404460422 rs931605009 |
257 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9257963 rs764404087 |
258 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404460419 rs1474325071 |
258 | V>I | No |
ClinGen gnomAD |
|
|
rs752798837 CA404460403 |
259 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs762888692 CA9257962 |
259 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs752798837 CA9257961 |
259 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404460398 rs1346462314 |
260 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9257926 rs778194023 |
262 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758746232 CA9257925 |
263 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM260686 CA404460298 rs1473583876 CA404460296 |
264 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9257924 rs151071442 |
265 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779037353 CA9257923 |
267 | W>C | No |
ClinGen ExAC |
|
|
rs1484930909 CA404460273 |
267 | W>R | No |
ClinGen gnomAD |
|
|
rs1462504052 COSM140200 CA404460253 |
268 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs755061146 CA9257922 |
269 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305714594 rs917683093 |
269 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1282713703 CA404460237 |
270 | P>H | No |
ClinGen gnomAD |
|
|
CA404460239 rs766610812 |
270 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766610812 CA9257920 |
270 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257918 rs202234343 |
271 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1232287734 CA404460219 |
272 | G>E | No |
ClinGen gnomAD |
|
|
rs761515246 CA9257916 |
272 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763754570 CA9257914 |
273 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761230411 CA9257910 |
276 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761230411 CA9257911 |
276 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404460127 rs537283205 |
277 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757107458 CA9257878 |
277 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757107458 CA9257879 |
277 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9257880 rs537283205 |
277 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 279 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401601834 CA404460090 |
280 | R>* | No |
ClinGen TOPMed |
|
|
CA9257876 COSM1641070 rs148675610 |
280 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
RCV000969724 rs61744931 CA9257875 |
281 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs139418141 CA9257873 |
283 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404460046 rs139418141 |
283 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257872 rs754711188 |
285 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1568613499 CA404459986 |
286 | Q>R | No |
ClinGen Ensembl |
|
|
rs939095731 CA305714320 |
288 | L>V | No |
ClinGen TOPMed |
|
|
rs112610420 CA9257870 |
292 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404459430 rs1314086567 |
294 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305714305 rs953292009 |
295 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376655156 CA9257869 |
295 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376655156 CA404459424 |
295 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404459422 rs953292009 |
295 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1310041510 CA404459417 |
296 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs865980550 CA305714298 |
298 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404459401 rs1377276079 |
298 | N>K | No |
ClinGen TOPMed |
|
|
CA305714293 rs764489185 |
299 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322611990 CA404459397 |
299 | N>I | No |
ClinGen TOPMed |
|
|
rs764489185 CA9257867 |
299 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775961737 CA9257847 |
303 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs775961737 CA404459359 |
303 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1433523458 CA404459357 |
303 | S>R | No |
ClinGen gnomAD |
|
|
CA404459352 rs968141927 |
304 | I>N | No |
ClinGen gnomAD |
|
|
CA305713689 rs968141927 |
304 | I>T | No |
ClinGen gnomAD |
|
|
rs1321987420 CA404459344 |
305 | L>F | No |
ClinGen gnomAD |
|
|
rs915289218 CA305713673 |
305 | L>I | No |
ClinGen Ensembl |
|
|
rs1382662155 CA404459341 |
306 | Q>* | No |
ClinGen TOPMed |
|
|
rs765697044 CA9257846 |
307 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257845 rs558010661 |
307 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368107373 CA305713646 |
309 | D>Y | No |
ClinGen ESP gnomAD |
|
|
CA9257842 rs141550785 |
311 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_061229 rs35612307 CA9257841 |
314 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1288054064 CA404459265 |
318 | L>P | No |
ClinGen gnomAD |
|
|
CA404459258 rs1274377652 |
319 | E>D | No |
ClinGen gnomAD |
|
|
CA404459262 rs1357577914 |
319 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376972284 CA9257837 |
320 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371644267 CA9257836 |
321 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141383411 CA305713602 |
322 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9257835 rs141383411 |
322 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9257833 rs200037098 |
323 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9257834 rs200037098 |
323 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9257832 rs780886482 |
323 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404459242 rs780886482 |
323 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753310801 CA9257830 |
333 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404459140 rs1371555090 |
336 | G>D | No |
ClinGen TOPMed |
|
|
CA305713561 rs898927787 |
337 | L>P | No |
ClinGen Ensembl |
|
|
COSM3822133 CA404459122 rs907690549 |
338 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs907690549 CA305713556 |
338 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1452421543 CA404459101 |
340 | V>I | No |
ClinGen gnomAD |
|
|
rs1451096843 CA404459082 |
341 | L>P | No |
ClinGen TOPMed |
|
|
rs759949194 CA9257828 |
343 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 346 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9257826 rs766645193 |
347 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773278296 CA9257825 |
347 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890152505 CA305713536 |
348 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1568611746 CA404458983 |
349 | S>P | No |
ClinGen Ensembl |
|
|
rs772198985 CA9257823 |
350 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9257822 rs761681825 |
350 | N>S | No |
ClinGen ExAC |
|
|
CA404458911 rs1345790241 |
351 | G>V | No |
ClinGen gnomAD |
|
|
rs200502097 CA305713518 |
354 | N>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9257821 rs774354109 |
355 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257820 rs556325856 |
359 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413845822 CA404458748 |
360 | G>S | No |
ClinGen gnomAD |
|
|
rs538237677 CA305713491 |
361 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1174409985 CA404458710 |
362 | E>* | No |
ClinGen gnomAD |
|
|
rs770522788 CA9257795 |
363 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404456325 CA404456322 rs1206219443 |
366 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1330797675 CA404456267 |
369 | K>T | No |
ClinGen gnomAD |
|
|
CA9257794 rs573367482 |
370 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9257793 rs777195531 |
372 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1224250172 CA404456206 |
374 | S>N | No |
ClinGen TOPMed |
|
|
CA9257791 rs749818486 |
374 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs780340132 CA9257790 |
375 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756476733 CA9257789 |
376 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257788 rs750606917 |
379 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257787 rs767753918 |
382 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9257785 rs751623919 |
385 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796344323 CA305705203 |
387 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs762933039 CA9257783 |
388 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305705196 rs775300785 |
391 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9257782 rs775300785 |
391 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404455970 rs1190188459 |
391 | A>V | No |
ClinGen TOPMed |
|
|
rs1173078437 CA404455965 |
392 | Q>* | No |
ClinGen gnomAD |
|
|
CA9257781 rs765057319 |
396 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA404455915 rs1422462198 |
396 | D>N | No |
ClinGen TOPMed |
|
|
rs1246677354 CA404455896 COSM310874 |
397 | P>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs375156999 CA9257779 |
398 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404455835 rs1282771843 |
399 | P>S | No |
ClinGen TOPMed |
|
|
rs764173202 CA9257766 |
401 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1480673012 CA404455804 |
402 | V>M | No |
ClinGen Ensembl |
|
|
rs1218861257 CA404455793 |
403 | G>S | No |
ClinGen TOPMed |
|
|
CA404455780 rs1487306411 |
404 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 406 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404455747 rs1204986709 |
407 | I>F | No |
ClinGen TOPMed |
|
|
rs752640257 CA9257763 |
409 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1005458732 CA305705016 |
410 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404455664 rs1230520895 |
413 | L>V | No |
ClinGen gnomAD |
|
|
rs759595432 CA9257762 COSM1205289 |
415 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759595432 CA9257761 |
415 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9257760 rs776535483 |
415 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404455623 rs1217499292 |
416 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766335946 CA9257759 |
417 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA404455610 rs1303953007 |
417 | A>V | No |
ClinGen gnomAD |
|
|
CA404455607 rs1409651933 |
418 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 422 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571040603 CA305704993 |
423 | P>T | No |
ClinGen Ensembl |
|
|
rs186366193 CA9257756 |
424 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9257757 rs772746472 |
424 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404455500 rs1243639170 |
426 | Q>E | No |
ClinGen TOPMed |
|
|
rs143281951 CA9257755 |
428 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9257754 rs139372786 |
428 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770257669 CA9257753 |
429 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257752 rs199530184 |
432 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA404455446 rs1334491430 |
432 | T>I | No |
ClinGen gnomAD |
|
|
CA9257750 rs781518962 |
433 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249358876 CA404455438 |
433 | H>Q | No |
ClinGen gnomAD |
|
|
CA404455427 rs1480931719 |
435 | G>D | No |
ClinGen gnomAD |
|
|
CA9257749 rs771210576 |
435 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1255299613 CA404455418 |
436 | L>F | No |
ClinGen gnomAD |
|
|
rs747186548 CA9257748 |
438 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257746 rs758452952 |
440 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404455387 rs1348787800 |
441 | S>F | No |
ClinGen gnomAD |
|
|
rs1348787800 CA404455389 |
441 | S>Y | No |
ClinGen gnomAD |
|
|
CA9257743 rs754953123 |
445 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs146325095 CA9257742 |
445 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404455350 rs1224882953 |
448 | V>M | No |
ClinGen TOPMed |
|
|
rs1343587411 CA404455331 |
451 | A>T | No |
ClinGen TOPMed |
|
|
CA9257738 rs767056697 |
453 | L>P | No |
ClinGen ExAC |
|
|
CA404455314 rs767056697 |
453 | L>Q | No |
ClinGen ExAC |
|
|
CA404455298 rs773851169 |
455 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA404455296 rs1198676117 |
456 | N>D | No |
ClinGen TOPMed |
|
|
CA9257734 rs759974915 CA404455285 |
456 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568599759 CA404455281 |
457 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs529254581 CA9257731 |
462 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9257732 rs367571896 |
462 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1462763666 CA404455180 |
465 | V>F | No |
ClinGen gnomAD |
|
|
rs747355337 CA9257730 |
468 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs561706740 CA9257727 COSM438743 |
472 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs142367407 CA9257726 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA305704297 rs904513666 |
474 | V>A | No |
ClinGen Ensembl |
|
|
rs373173364 CA9257701 |
476 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305704270 rs992977589 |
478 | Q>* | No |
ClinGen gnomAD |
|
|
COSM3701423 rs992977589 CA305704284 |
478 | Q>E | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1265489811 CA404454377 |
478 | Q>R | No |
ClinGen gnomAD |
|
|
rs112007450 CA9257699 |
479 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA9257698 rs758093170 |
480 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404454365 rs758093170 |
480 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406181749 CA404454357 |
481 | L>P | No |
ClinGen TOPMed |
|
|
CA404454352 rs1342001518 |
482 | C>Y | No |
ClinGen gnomAD |
|
|
CA404454328 rs1227458117 |
485 | W>* | No |
ClinGen gnomAD |
|
|
COSM991955 rs764868326 CA9257696 |
486 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467216051 CA404454313 |
487 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 488 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750718286 CA9257695 |
490 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1332677906 CA404454273 |
493 | G>C | No |
ClinGen TOPMed |
|
|
rs150442380 RCV002786071 CA9257693 |
495 | W>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1421514748 CA404454253 |
496 | A>T | No |
ClinGen gnomAD |
|
|
RCV000917193 rs150972875 CA9257691 |
500 | C>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404454210 rs1481007699 |
502 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768970857 CA9257689 |
503 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203382887 CA404454201 |
504 | G>R | No |
ClinGen gnomAD |
|
|
rs545929404 CA305704180 |
505 | T>S | No |
ClinGen 1000Genomes |
|
|
CA9257688 rs749594154 |
509 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 510 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404454157 rs1195912695 |
510 | T>I | No |
ClinGen gnomAD |
|
|
CA9257687 rs775421833 |
511 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1568598444 CA404454143 |
512 | C>W | No |
ClinGen Ensembl |
|
|
CA9257686 rs144104308 |
513 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054685455 CA305704151 |
514 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745722678 CA9257685 |
516 | H>P | No |
ClinGen ExAC |
|
|
rs1471996742 CA404454124 |
516 | H>Y | No |
ClinGen gnomAD |
|
|
CA404454109 rs1198687886 |
518 | S>N | No |
ClinGen TOPMed |
|
|
RCV000887613 CA9257684 rs115480163 |
518 | S>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs563911043 CA305704136 |
519 | S>T | No |
ClinGen 1000Genomes |
|
|
CA404454093 rs1345687481 |
520 | F>C | No |
ClinGen gnomAD |
|
|
rs146763976 CA305704127 COSM1129978 |
521 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
rs542436363 COSM330184 CA9257683 |
522 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs777582808 CA9257681 |
524 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9257682 rs746782632 |
524 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758041727 CA9257680 |
526 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754549569 CA9257678 |
527 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257679 rs143149076 RCV000897509 |
527 | Y>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA305704042 rs954008643 |
528 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs553690768 CA9257676 |
529 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3822131 rs933287399 CA305704026 |
530 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9257675 rs768118665 |
530 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs753358915 CA9257659 |
531 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1247096147 CA404453592 |
531 | E>G | No |
ClinGen gnomAD |
|
|
rs1461360569 CA404453595 |
531 | E>Q | No |
ClinGen gnomAD |
|
|
CA404453580 rs1318282115 |
533 | D>N | No |
ClinGen gnomAD |
|
|
CA9257657 rs370924160 |
535 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752129297 CA9257656 |
537 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 538 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 538 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763402437 CA9257654 |
539 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs764491168 CA9257655 |
539 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404453535 rs1287404978 |
540 | T>I | No |
ClinGen gnomAD |
|
|
CA404453536 rs1287404978 |
540 | T>S | No |
ClinGen gnomAD |
|
|
rs1323349089 CA404453520 |
542 | M>I | No |
ClinGen gnomAD |
|
|
rs61731999 CA9257651 RCV000887124 |
542 | M>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs377330707 CA9257649 |
546 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771056442 CA9257648 |
547 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200185787 CA305701908 |
550 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404453472 rs1184201579 |
551 | L>I | No |
ClinGen gnomAD |
|
|
CA305701903 rs1053116040 |
552 | L>I | No |
ClinGen Ensembl |
|
|
rs747953533 CA9257644 |
553 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 554 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9257643 rs778614484 |
554 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257640 rs779657145 |
555 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779657145 CA9257641 |
555 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143243021 CA9257638 |
559 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404453423 rs1274464998 |
560 | L>M | No |
ClinGen gnomAD |
|
|
CA9257636 rs370041623 |
561 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257634 rs753072426 |
564 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA404453390 rs1167741751 |
565 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9257633 rs765585011 |
565 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs755213122 CA9257632 |
569 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9257631 rs187229047 |
570 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404453351 rs1270782463 |
571 | L>V | No |
ClinGen gnomAD |
|
|
CA404453343 rs1457194862 |
572 | H>R | No |
ClinGen TOPMed |
|
|
CA404453332 rs1222875346 |
574 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs766379780 CA9257629 |
575 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201874467 CA9257627 |
576 | S>L | Variant assessed as Somatic; 0.0006931 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760766279 CA9257628 |
576 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs201874467 CA9257626 |
576 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768352866 CA9257623 |
578 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA404453283 rs1284354132 |
582 | A>D | No |
ClinGen gnomAD |
|
|
rs766097193 CA305701811 |
583 | H>Y | No |
ClinGen Ensembl |
|
|
RCV000905454 rs534018804 |
586 | F>missing | No |
ClinVar dbSNP |
|
|
CA9257620 rs775317872 |
587 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs377307217 CA9257619 |
588 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758937302 CA9257616 |
589 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404453243 rs1599821031 |
589 | A>T | No |
ClinGen Ensembl |
|
|
rs147337375 CA404453235 |
590 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257614 rs147337375 |
590 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257613 rs755340247 |
591 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9257611 RCV002249066 RCV003094011 rs148074899 |
594 | G>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA305701749 rs148074899 |
594 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756366651 CA9257610 |
595 | H>Q | No |
ClinGen ExAC |
|
|
rs903730021 CA305701747 |
596 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA305700984 rs997616385 |
597 | V>G | No |
ClinGen Ensembl |
|
|
CA9257582 rs763027863 |
598 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404453167 rs1212154593 |
599 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs759208927 CA9257579 |
600 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs765184165 CA9257580 |
600 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs994249363 CA305700960 |
601 | I>V | No |
ClinGen TOPMed |
|
|
rs534741485 CA9257578 |
602 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404453148 rs760081009 |
603 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257576 rs760081009 |
603 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257574 COSM1390985 rs143659792 |
604 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 605 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs4410209 CA9257573 VAR_026719 |
605 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9257572 rs780336044 |
607 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs780336044 CA404453123 |
607 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1360727317 CA404453127 |
607 | H>Y | No |
ClinGen gnomAD |
|
|
rs202154380 CA9257571 |
608 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9257570 VAR_026720 rs2524383 |
614 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404453073 rs1449417434 |
615 | T>N | No |
ClinGen gnomAD |
|
|
CA404453063 rs1425200648 |
616 | W>* | No |
ClinGen TOPMed |
|
|
rs1192444287 CA404453069 |
616 | W>R | No |
ClinGen TOPMed |
|
|
rs781288814 CA9257569 |
617 | M>L | No |
ClinGen ExAC TOPMed |
|
|
rs1400444740 CA404453034 |
621 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751566429 CA9257567 |
623 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs778069519 CA9257566 |
624 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767441479 CA305700867 |
625 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs145425662 CA9257565 |
626 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257564 rs111634121 RCV000964054 |
629 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404452987 rs1359045292 |
629 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9257563 rs765059458 |
630 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375059898 CA404452980 |
630 | N>S | No |
ClinGen gnomAD |
|
|
rs45563436 CA9257562 |
632 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404452962 rs1599817573 |
633 | V>A | No |
ClinGen Ensembl |
|
|
rs760441774 CA9257559 |
637 | S>L | No |
ClinGen ExAC |
|
| TCGA novel | 638 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9257558 rs113941589 |
640 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 642 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 642 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305700836 rs368370128 |
643 | M>I | No |
ClinGen Ensembl |
|
|
rs374518362 CA9257556 |
647 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763381476 CA9257555 |
648 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1483554293 CA404452842 |
650 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs776005214 CA404452828 |
652 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257553 rs370157037 |
653 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143530914 COSM74507 CA305700760 |
656 | A>S | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143530914 CA9257552 |
656 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771057297 CA9257550 |
664 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3752187 CA9257549 VAR_026721 |
665 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404452750 rs1469505911 |
666 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA305700715 rs756311370 |
667 | P>T | No |
ClinGen Ensembl |
|
|
rs150922672 CA9257548 |
668 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257547 rs200022474 |
669 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs367674615 CA9257546 |
670 | Y>* | No |
ClinGen ESP ExAC |
|
|
rs779016111 CA9257545 |
672 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560171435 CA9257544 |
673 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1325452 rs1439992779 CA404452696 |
675 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9257542 rs144670525 |
675 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9257516 rs767130765 |
676 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767130765 CA305694131 |
676 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257515 rs756940070 |
678 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9257512 rs370665322 |
679 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305694071 rs978981150 |
680 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404452262 rs1185242567 |
680 | P>T | No |
ClinGen TOPMed |
|
|
rs377637436 CA9257510 |
683 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316719139 CA404452242 |
683 | G>R | No |
ClinGen gnomAD |
|
|
rs773762022 CA9257508 |
686 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9257509 rs200940536 |
686 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs772418492 CA9257507 |
687 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9257505 rs774513835 |
689 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371200658 CA9257504 |
691 | P>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs61732001 CA9257502 |
693 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9257500 rs377454798 |
694 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448510442 CA404452021 |
696 | F>Y | No |
ClinGen gnomAD |
|
|
CA305693332 rs868277426 |
698 | V>A | No |
ClinGen Ensembl |
|
|
CA9257468 rs770719469 |
698 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390669964 CA404451893 |
700 | L>F | No |
ClinGen gnomAD |
|
|
rs746627329 CA9257464 |
701 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200330090 CA9257463 |
702 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147387582 CA9257462 |
705 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752221982 CA9257461 |
708 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548759776 CA9257460 |
708 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404451795 rs1175489124 |
710 | L>S | No |
ClinGen gnomAD |
|
|
rs1479320374 CA404451770 |
712 | N>S | No |
ClinGen gnomAD |
|
|
rs200295887 CA9257459 |
713 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257458 rs200295887 |
713 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404451749 rs1191699597 |
714 | L>F | No |
ClinGen gnomAD |
|
|
CA404451730 rs1231275340 |
716 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 717 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305693253 rs772043754 |
718 | N>S | No |
ClinGen TOPMed |
|
|
rs1318923879 CA404451693 |
719 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs57865820 CA9257455 VAR_061230 |
720 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404451670 rs1222129684 |
721 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305693239 rs377535059 |
722 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM302133 CA9257450 rs374432034 |
725 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9257451 rs201706729 |
725 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404451622 rs1227103901 |
726 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1376986840 CA404451464 |
728 | R>S | No |
ClinGen gnomAD |
|
|
CA404451455 rs1450030442 |
729 | M>I | No |
ClinGen gnomAD |
|
|
CA404451458 rs1335408649 |
729 | M>T | No |
ClinGen gnomAD |
|
|
CA9257441 rs370433460 |
731 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9257440 rs564713952 |
734 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA404451405 rs1160381596 |
737 | Q>L | No |
ClinGen gnomAD |
|
|
CA305691523 rs767882352 |
740 | I>T | No |
ClinGen TOPMed |
|
|
CA9257435 rs758592313 |
740 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257433 rs147300399 |
743 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147300399 CA9257434 |
743 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257432 rs759637864 COSM991951 |
744 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759637864 CA404451363 |
744 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257431 rs776742519 |
746 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9257429 rs760596164 |
748 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 754 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1390983 CA9257425 rs774168050 |
754 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 755 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373190699 CA9257423 |
756 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779773611 CA9257422 |
756 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs376746197 CA9257420 |
757 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9257421 rs201317256 |
757 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404451279 rs1599791744 |
758 | V>G | No |
ClinGen Ensembl |
|
|
rs778136697 CA9257419 |
759 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202912647 CA404451263 |
761 | Y>H | No |
ClinGen TOPMed |
|
|
CA404451262 rs1202912647 |
761 | Y>N | No |
ClinGen TOPMed |
|
|
rs753968524 CA9257418 |
763 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257416 rs765424060 |
766 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA305691476 rs201158521 |
771 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 774 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs945637027 CA305691475 |
777 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 778 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9257414 rs753910967 |
779 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914175287 CA305691466 |
780 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1290191706 CA404451129 |
781 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1290191706 CA404451131 |
781 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs905815301 CA305691462 |
782 | S>C | No |
ClinGen Ensembl |
|
|
CA9257413 rs138334964 |
783 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 784 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367595735 CA404451088 |
785 | V>F | No |
ClinGen TOPMed |
|
|
rs117617387 CA9257395 |
786 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780140985 CA9257396 |
786 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA404451081 rs1315718244 |
787 | E>K | No |
ClinGen gnomAD |
|
|
CA404451071 rs1259560089 |
788 | Q>* | No |
ClinGen gnomAD |
|
|
rs1599791268 CA404451061 |
789 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 791 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761872578 CA404451041 |
792 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751384950 CA9257391 |
792 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9257392 COSM3362705 rs761872578 |
792 | W>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs557561000 CA9257393 |
792 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9257389 rs763990777 |
794 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161639500 CA404451021 |
795 | G>E | No |
ClinGen gnomAD |
|
|
rs762631238 CA9257388 |
795 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs878867683 CA305691362 |
796 | I>V | No |
ClinGen Ensembl |
|
|
CA404451001 rs1402803535 |
798 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs775315879 CA9257387 |
801 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs374876815 CA9257386 |
803 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 803 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404450965 rs1201204293 |
804 | E>K | No |
ClinGen TOPMed |
|
|
rs1174624543 CA404450932 |
808 | L>F | No |
ClinGen gnomAD |
|
|
rs922194314 CA305691355 |
808 | L>P | No |
ClinGen Ensembl |
|
|
CA404450918 rs1478658729 |
810 | S>I | No |
ClinGen gnomAD |
|
|
CA404450920 rs1478658729 |
810 | S>N | No |
ClinGen gnomAD |
|
|
CA404450917 rs1269515036 |
810 | S>R | No |
ClinGen TOPMed |
|
|
rs1180050398 CA404450912 |
811 | S>N | No |
ClinGen gnomAD |
|
|
CA9257385 rs758950184 |
813 | K>* | No |
ClinGen ExAC |
|
|
CA9257384 rs776246646 |
813 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180537383 CA404450890 |
814 | A>V | No |
ClinGen gnomAD |
|
|
CA404450878 rs1239696269 |
816 | T>N | No |
ClinGen gnomAD |
|
|
CA9257382 rs61732002 |
821 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404449784 rs1296677787 |
823 | N>K | No |
ClinGen gnomAD |
|
|
rs749620311 CA9257357 |
824 | N>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404449780 rs1381102747 |
824 | N>W | No |
ClinGen TOPMed |
No associated diseases with Q9UHX3
No regional properties for Q9UHX3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UHX3 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a 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. |
| 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. |
| leading edge membrane | The portion of the plasma membrane surrounding the leading edge of a motile cell. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| chondroitin sulfate binding | Binding to chondroitin sulfate, a glycosaminoglycan made up of two alternating monosaccharides: D-glucuronic acid (GlcA) and N-acetyl-D-galactosamine (GalNAc). |
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP). |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| granulocyte chemotaxis | The movement of a granulocyte in response to an external stimulus. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| regulation of mast cell degranulation | Any process that modulates the frequency, rate, or extent of mast cell degranulation. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O97148 | mth | G-protein coupled receptor Mth | Drosophila melanogaster (Fruit fly) | PR |
| Q9VSE7 | mthl7 | Probable G-protein coupled receptor Mth-like 7 | Drosophila melanogaster (Fruit fly) | PR |
| P83119 | mthl12 | Probable G-protein coupled receptor Mth-like 12 | Drosophila melanogaster (Fruit fly) | PR |
| Q8IZF3 | ADGRF4 | Adhesion G protein-coupled receptor F4 | Homo sapiens (Human) | PR |
| O60242 | ADGRB3 | Adhesion G protein-coupled receptor B3 | Homo sapiens (Human) | PR |
| Q86SQ4 | ADGRG6 | Adhesion G-protein coupled receptor G6 | Homo sapiens (Human) | PR |
| Q80TR1 | Adgrl1 | Adhesion G protein-coupled receptor L1 | Mus musculus (Mouse) | PR |
| Q2Q426 | ADGRE2 | Adhesion G protein-coupled receptor E2 | Macaca mulatta (Rhesus macaque) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGGRVFLVFL | AFCVWLTLPG | AETQDSRGCA | RWCPQDSSCV | NATACRCNPG | FSSFSEIITT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PMETCDDINE | CATLSKVSCG | KFSDCWNTEG | SYDCVCSPGY | EPVSGAKTFK | NESENTCQDV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DECQQNPRLC | KSYGTCVNTL | GSYTCQCLPG | FKLKPEDPKL | CTDVNECTSG | QNPCHSSTHC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LNNVGSYQCR | CRPGWQPIPG | SPNGPNNTVC | EDVDECSSGQ | HQCDSSTVCF | NTVGSYSCRC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RPGWKPRHGI | PNNQKDTVCE | DMTFSTWTPP | PGVHSQTLSR | FFDKVQDLGR | DYKPGLANNT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IQSILQALDE | LLEAPGDLET | LPRLQQHCVA | SHLLDGLEDV | LRGLSKNLSN | GLLNFSYPAG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TELSLEVQKQ | VDRSVTLRQN | QAVMQLDWNQ | AQKSGDPGPS | VVGLVSIPGM | GKLLAEAPLV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LEPEKQMLLH | ETHQGLLQDG | SPILLSDVIS | AFLSNNDTQN | LSSPVTFTFS | HRSVIPRQKV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LCVFWEHGQN | GCGHWATTGC | STIGTRDTST | ICRCTHLSSF | AVLMAHYDVQ | EEDPVLTVIT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YMGLSVSLLC | LLLAALTFLL | CKAIQNTSTS | LHLQLSLCLF | LAHLLFLVAI | DQTGHKVLCS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IIAGTLHYLY | LATLTWMLLE | ALYLFLTARN | LTVVNYSSIN | RFMKKLMFPV | GYGVPAVTVA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ISAASRPHLY | GTPSRCWLQP | EKGFIWGFLG | PVCAIFSVNL | VLFLVTLWIL | KNRLSSLNSE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VSTLRNTRML | AFKATAQLFI | LGCTWCLGIL | QVGPAARVMA | YLFTIINSLQ | GVFIFLVYCL |
| 790 | 800 | 810 | 820 | ||
| LSQQVREQYG | KWSKGIRKLK | TESEMHTLSS | SAKADTSKPS | TVN |