Q92619
EV
Gene name |
ARHGAP45 |
Protein name |
Rho GTPase-activating protein 45 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23526 |
EC number |
|
Protein Class |
SPERMATHECAL PHYSIOLOGY VARIANT (PTHR15228) |
Descriptions
The human minor H antigen ARHGAP45 contains an N-terminal BAR domain followed by a C1 and a RhoGAP domain and has GAP activity towards the RhoGTPases, Rac1, Cdc42, and RhoA. The GAP function is inhibited by the N-terminal BAR domain.
Autoinhibitory domains (AIDs)
Target domain |
691-1136 (C1-GAP-tail domains) |
Relief mechanism |
|
Assay |
Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q92619
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3D25 | X-ray | 130 A | C | 140-145 | PDB |
| 3FT3 | X-ray | 195 A | P | 137-145 | PDB |
| AF-Q92619-F1 | Predicted | AlphaFoldDB |
1053 variants for Q92619
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1414841631 CA402996754 |
5 | K>N | No |
ClinGen gnomAD |
|
|
CA9035267 rs771154850 |
8 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1308661053 CA402996901 |
10 | M>V | No |
ClinGen gnomAD |
|
|
CA304018282 rs1016672036 |
13 | P>L | No |
ClinGen Ensembl |
|
|
CA402997013 rs1478090855 |
13 | P>S | No |
ClinGen gnomAD |
|
|
CA9035268 rs776846656 |
14 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA402997091 rs1210840645 |
15 | I>T | No |
ClinGen TOPMed |
|
|
CA402997083 rs1440555262 |
15 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769870167 CA9035270 |
17 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs935946897 CA304018294 |
18 | K>N | No |
ClinGen TOPMed |
|
|
CA402997205 rs1387997904 |
18 | K>R | No |
ClinGen gnomAD |
|
|
CA9035271 rs775340010 |
19 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1302198086 CA402997258 |
20 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA402997260 rs1568448142 |
20 | R>H | No |
ClinGen Ensembl |
|
|
rs1345355510 CA402997294 |
21 | A>T | No |
ClinGen gnomAD |
|
|
CA402997369 rs1274679217 |
24 | P>R | No |
ClinGen gnomAD |
|
|
rs762919031 CA9035272 |
25 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304018300 rs919362013 |
25 | S>N | No |
ClinGen Ensembl |
|
|
CA402997394 rs1248446328 |
25 | S>R | No |
ClinGen gnomAD |
|
|
CA9035273 rs764049999 |
26 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402997447 rs1393059066 |
28 | P>L | No |
ClinGen gnomAD |
|
|
rs750040122 CA9035277 |
30 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA402997472 rs750040122 |
30 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs201890572 CA304018323 |
30 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201890572 CA9035276 |
30 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750040122 CA304018324 |
30 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs956215659 CA304018826 |
31 | E>* | No |
ClinGen Ensembl |
|
|
CA304018829 rs866095025 |
31 | E>D | No |
ClinGen Ensembl |
|
|
rs1599748091 CA402999381 |
31 | E>V | No |
ClinGen Ensembl |
|
|
rs867872521 CA304018833 |
34 | R>S | No |
ClinGen Ensembl |
|
|
rs200702693 CA9035312 |
36 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA304018847 rs866922712 |
37 | G>V | No |
ClinGen Ensembl |
|
|
CA304018860 rs867863815 |
38 | A>D | No |
ClinGen Ensembl |
|
|
CA304018883 rs770630672 |
40 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760322013 CA9035315 |
40 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9035316 rs770630672 |
40 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540497687 CA9035318 |
42 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304018899 rs867406968 |
43 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867406968 CA402999701 |
43 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377283752 CA9035320 |
44 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9035322 rs767833895 |
45 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402999762 rs1489725541 |
46 | S>R | No |
ClinGen gnomAD |
|
|
CA304018913 rs979781600 |
49 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs979781600 CA304018910 |
49 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA402999804 rs1210991107 |
49 | P>T | No |
ClinGen gnomAD |
|
|
CA402999843 rs35198135 |
51 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs35198135 CA304018918 |
51 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9035326 rs754085432 |
53 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165572830 CA402999911 |
55 | G>D | No |
ClinGen gnomAD |
|
|
CA9035328 rs201907876 |
55 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772053099 CA9035330 |
56 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035331 rs777515527 |
57 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA9035332 rs777515527 |
57 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs770591267 CA9035333 |
61 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403000029 rs1599748250 |
61 | T>P | No |
ClinGen Ensembl |
|
|
rs911343550 CA304018944 |
62 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA304018943 rs911343550 |
62 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs941119174 CA304018950 |
64 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776304661 CA9035334 |
64 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403000203 rs1211014451 |
70 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9035337 rs977382639 |
70 | R>H | No |
ClinGen TOPMed |
|
|
CA304018960 rs918382275 |
72 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750842481 CA403000275 |
74 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768078615 CA9035341 |
74 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750842481 CA9035342 |
74 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766832622 CA9035344 |
75 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs754175046 CA9035345 |
77 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA304018979 rs893848100 |
77 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403000316 rs1453239610 |
79 | L>P | No |
ClinGen gnomAD |
|
|
CA9035347 rs765491257 |
81 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA403000403 rs1273465075 |
84 | S>P | No |
ClinGen TOPMed |
|
|
CA403000464 rs1293180546 |
86 | T>I | No |
ClinGen gnomAD |
|
|
rs1039031288 CA304018994 |
87 | L>P | No |
ClinGen Ensembl |
|
|
rs758361958 CA9035349 |
88 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA403000490 rs1285347732 |
89 | R>Q | No |
ClinGen gnomAD |
|
|
CA9035350 rs201802065 |
89 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35504437 CA9035351 |
91 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780950947 CA9035353 |
92 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035352 rs563676231 |
92 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745585229 CA9035354 |
93 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs530985337 CA9035355 |
97 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748848711 CA9035357 |
98 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035358 rs768007363 |
100 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403000667 rs1401232692 |
100 | P>T | No |
ClinGen TOPMed |
|
|
rs766920573 CA9035361 |
101 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9035360 rs761077603 |
101 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746617179 CA304019035 |
102 | E>G | No |
ClinGen Ensembl |
|
|
rs561511306 CA9035362 |
102 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759924822 CA9035363 |
103 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403000724 rs1319283445 |
104 | P>L | No |
ClinGen TOPMed |
|
|
CA403000729 rs765581037 |
105 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765581037 CA9035364 |
105 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222461709 CA403000731 |
106 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1304379750 CA403000749 |
108 | A>V | No |
ClinGen gnomAD |
|
|
CA403000752 rs1430774148 |
109 | G>D | No |
ClinGen TOPMed |
|
|
CA403000750 rs764058311 |
109 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764058311 CA9035367 |
109 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751570740 CA9035368 |
110 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751570740 CA403000758 |
110 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781038935 CA9035370 |
111 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs571895313 CA9035372 |
112 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9035374 rs748874201 |
113 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403000783 rs1173257663 |
114 | E>D | No |
ClinGen gnomAD |
|
|
CA304019068 rs1018040514 |
115 | D>V | No |
ClinGen TOPMed |
|
|
rs747630244 CA9035377 |
117 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9035376 rs773731939 |
117 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs550123041 CA9035378 |
118 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1354515375 CA403000822 |
121 | A>S | No |
ClinGen gnomAD |
|
|
CA9035379 rs200604668 COSM3388550 |
121 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9035381 rs765666107 |
122 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1486246999 CA403000825 |
122 | D>N | No |
ClinGen TOPMed |
|
|
rs1599748666 CA403000836 |
123 | V>G | No |
ClinGen Ensembl |
|
|
rs763071442 CA9035383 |
123 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345112721 CA403000839 |
124 | A>S | No |
ClinGen gnomAD |
|
|
rs1345112721 CA403000837 |
124 | A>T | No |
ClinGen gnomAD |
|
|
CA403000844 rs1374432885 |
125 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1273604156 CA403000846 |
125 | R>H | No |
ClinGen gnomAD |
|
|
CA403000843 rs1374432885 |
125 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403000859 rs1481803053 |
127 | A>T | No |
ClinGen Ensembl |
|
|
CA9035386 rs761820917 |
128 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767461785 CA9035387 |
132 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1214700758 CA403000964 |
134 | K>T | No |
ClinGen TOPMed |
|
|
CA403001019 rs3764653 |
138 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1209823 CA9035390 rs779705191 |
139 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1801284 VAR_042693 CA9035391 |
139 | R>H | allele HA-1H; induction of CTL recognition for epitope HA-1 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA403001044 rs1801284 |
139 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3764655 CA403001058 |
140 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599754579 CA403004111 |
141 | D>A | No |
ClinGen Ensembl |
|
|
CA403004115 rs772209678 |
141 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA304019116 rs779055456 |
141 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403004116 rs1426826338 |
142 | L>I | No |
ClinGen TOPMed |
|
|
rs1175140417 CA403004127 |
143 | L>P | No |
ClinGen gnomAD |
|
|
rs1434146678 CA403004131 |
144 | E>K | No |
ClinGen TOPMed |
|
|
rs1270029542 CA403004141 |
145 | A>G | No |
ClinGen TOPMed |
|
|
rs760691496 CA9035424 |
146 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035425 rs766251950 |
146 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035426 rs776592357 |
147 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403004158 rs1391916933 |
147 | R>H | No |
ClinGen gnomAD |
|
|
CA9035427 rs368579074 |
148 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771684898 CA9035428 |
148 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763773150 CA9035431 |
149 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9035430 rs758118205 COSM1209821 |
149 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9035432 rs751127435 |
150 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035433 rs756740256 |
150 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1568457664 CA403004193 |
151 | H>Y | No |
ClinGen Ensembl |
|
|
CA9035435 rs749767030 |
152 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9035436 rs755344663 |
153 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403004270 rs1303245644 |
155 | G>S | No |
ClinGen TOPMed |
|
|
CA9035437 rs779248180 |
156 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453243150 CA403004329 |
159 | R>C | No |
ClinGen gnomAD |
|
|
rs200737466 CA9035438 |
160 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs948266314 CA403004397 |
161 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA304023043 rs948266314 |
161 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1374327973 CA403004387 |
161 | M>T | No |
ClinGen gnomAD |
|
|
CA403004427 rs1167277724 |
162 | H>R | No |
ClinGen gnomAD |
|
|
CA403004466 rs34905859 |
164 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9035439 rs34905859 |
164 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403004554 rs1403390136 |
168 | Y>C | No |
ClinGen TOPMed |
|
|
rs1403390136 CA403004553 |
168 | Y>S | No |
ClinGen TOPMed |
|
|
CA9035440 rs773377167 |
169 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403004667 rs1327112883 |
174 | V>M | No |
ClinGen gnomAD |
|
|
rs1227323316 CA403004729 |
176 | T>M | No |
ClinGen gnomAD |
|
|
rs765007544 CA9035445 |
178 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762776561 CA9035447 |
179 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1428656872 CA403004856 |
181 | G>S | No |
ClinGen gnomAD |
|
|
CA304023069 rs113089534 |
183 | L>P | No |
ClinGen Ensembl |
|
|
rs1192381664 CA403004894 |
183 | L>V | No |
ClinGen gnomAD |
|
|
CA403004930 rs1421444380 |
184 | I>V | No |
ClinGen gnomAD |
|
|
CA9035450 rs756755645 |
186 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304023076 rs1036027667 |
187 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1317092842 CA403005254 |
190 | F>L | No |
ClinGen gnomAD |
|
|
rs767013856 CA9035469 |
194 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs749966750 CA9035470 |
196 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9035473 rs531209047 |
200 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403005480 rs575555041 |
201 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs575555041 CA9035474 |
201 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA403005522 rs1568458337 |
202 | E>D | No |
ClinGen Ensembl |
|
|
CA9035476 rs751796099 |
203 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035477 rs376691391 |
204 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403005550 rs376691391 |
204 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435490997 CA403005586 |
206 | A>V | No |
ClinGen gnomAD |
|
|
rs781214049 CA9035478 |
207 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs145027652 CA9035480 |
209 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145027652 CA403005619 |
209 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1193156 rs969491531 CA304023174 |
210 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9035483 rs147573323 |
212 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9035484 rs774188898 |
213 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA403005805 rs1310299095 |
217 | T>I | No |
ClinGen gnomAD |
|
|
rs1167469513 CA403005970 |
221 | F>L | No |
ClinGen gnomAD |
|
|
rs1395715064 CA403006029 |
223 | M>I | No |
ClinGen gnomAD |
|
|
rs1227935146 CA403006114 |
226 | V>E | No |
ClinGen gnomAD |
|
|
rs888856892 CA304023215 |
230 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1599755453 CA403006207 |
230 | T>P | No |
ClinGen Ensembl |
|
|
CA9035513 rs774680974 |
231 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA403006281 rs1270682625 |
233 | A>S | No |
ClinGen gnomAD |
|
|
CA403006289 rs1339688220 |
234 | V>M | No |
ClinGen gnomAD |
|
|
CA9035516 rs750711234 |
237 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9035517 rs756397727 |
238 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035518 rs766639373 |
239 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs745497349 CA9035547 |
242 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330618120 CA403006364 |
243 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403006357 rs1302017636 |
243 | M>L | No |
ClinGen gnomAD |
|
|
rs1302017636 CA403006358 |
243 | M>V | No |
ClinGen gnomAD |
|
|
rs769400987 CA9035548 |
245 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403006395 rs1375655559 |
248 | G>R | No |
ClinGen gnomAD |
|
|
rs867940254 CA304023314 |
249 | P>Q | No |
ClinGen Ensembl |
|
|
CA9035549 rs779422486 |
254 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414013478 CA403006441 |
255 | P>S | No |
ClinGen TOPMed |
|
|
rs1198348768 CA403006454 |
257 | S>N | No |
ClinGen gnomAD |
|
|
CA9035550 rs748762755 |
257 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9035551 VAR_042694 rs2074442 |
259 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403006469 rs2074442 |
259 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1456145319 CA403006463 |
259 | E>K | No |
ClinGen gnomAD |
|
|
rs773818879 CA304023320 |
260 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304023322 rs867809035 |
261 | C>Y | No |
ClinGen gnomAD |
|
|
CA9035553 rs201073885 |
262 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201073885 CA403006490 |
262 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484310865 CA403006484 |
262 | D>N | No |
ClinGen TOPMed |
|
|
CA9035554 rs151188502 |
263 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1287477850 CA403006510 |
264 | G>D | No |
ClinGen gnomAD |
|
|
rs759674147 CA403006496 |
264 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759674147 CA9035556 |
264 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9035578 rs751555279 |
267 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403006528 rs1261020340 |
267 | P>S | No |
ClinGen gnomAD |
|
|
rs761730903 CA9035579 |
268 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035581 rs750196158 |
269 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403006555 rs1599756237 |
271 | V>G | No |
ClinGen Ensembl |
|
|
rs1157370902 CA403006561 |
272 | D>G | No |
ClinGen gnomAD |
|
|
CA403006558 rs1419251437 |
272 | D>H | No |
ClinGen gnomAD |
|
|
rs1302590562 CA403006568 |
273 | V>G | No |
ClinGen gnomAD |
|
|
rs779616743 CA9035584 |
273 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779616743 CA9035583 |
273 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403006578 rs1377459019 |
275 | L>R | No |
ClinGen gnomAD |
|
|
rs969455802 CA304023376 |
277 | R>C | No |
ClinGen TOPMed |
|
|
COSM1390043 CA9035586 rs778566096 |
277 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA403006593 rs1302946956 |
278 | C>S | No |
ClinGen gnomAD |
|
|
CA304023384 rs980883242 |
278 | C>S | No |
ClinGen TOPMed |
|
|
rs1371920659 CA403006599 |
279 | E>Q | No |
ClinGen gnomAD |
|
|
COSM1189743 CA9035587 rs747595275 |
280 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1238862974 CA403006615 |
281 | G>S | No |
ClinGen gnomAD |
|
|
rs757852583 CA9035588 |
282 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757852583 CA403006630 |
282 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313846560 CA403006647 |
283 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1313846560 CA403006649 |
283 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1255176680 CA403006689 |
286 | L>M | No |
ClinGen gnomAD |
|
|
CA304023392 rs943059905 |
287 | L>V | No |
ClinGen Ensembl |
|
|
rs1239081578 CA403006742 |
289 | A>D | No |
ClinGen gnomAD |
|
|
rs372303336 CA9035591 |
289 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403006783 rs1439332989 |
291 | N>S | No |
ClinGen gnomAD |
|
|
rs1599756388 CA403006790 |
292 | M>V | No |
ClinGen Ensembl |
|
|
CA403006838 rs1176783290 |
294 | K>R | No |
ClinGen gnomAD |
|
|
CA9035592 rs775621974 COSM474133 |
296 | M>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9035594 rs768791124 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1357750644 CA403007088 |
304 | E>D | No |
ClinGen gnomAD |
|
|
CA403007121 rs1463908899 |
306 | R>Q | No |
ClinGen gnomAD |
|
|
rs1482440148 CA403007138 |
307 | T>M | No |
ClinGen TOPMed |
|
|
CA403007159 rs1445625622 |
308 | T>M | No |
ClinGen gnomAD |
|
|
rs755293165 CA9035630 |
316 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1298775728 CA403007435 |
319 | K>T | No |
ClinGen gnomAD |
|
|
CA403007453 rs1397970511 |
320 | I>M | No |
ClinGen gnomAD |
|
|
CA304023502 rs779143760 |
320 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035631 rs779143760 |
320 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575124517 CA304023506 |
321 | A>T | No |
ClinGen Ensembl |
|
|
CA9035632 rs748360399 |
323 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772113900 CA9035633 |
327 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9035634 rs777917786 |
329 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403007723 rs777917786 |
329 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747003749 CA9035635 |
330 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA403008988 rs1331080978 |
332 | P>L | No |
ClinGen TOPMed |
|
|
rs781329831 CA9035659 |
333 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443235993 CA403009096 |
335 | P>L | No |
ClinGen TOPMed |
|
|
CA304023635 rs890569928 |
335 | P>T | No |
ClinGen gnomAD |
|
|
CA9035662 rs775430041 |
337 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1477659848 CA403009166 |
338 | S>Y | No |
ClinGen gnomAD |
|
|
CA403009218 rs1173939280 |
340 | Y>C | No |
ClinGen gnomAD |
|
|
CA403009245 rs1466320578 |
341 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9035664 rs546916938 |
343 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528751431 CA9035663 |
343 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773831902 CA9035665 |
353 | S>R | No |
ClinGen ExAC |
|
|
CA304023658 rs1017764456 |
355 | V>M | No |
ClinGen gnomAD |
|
|
rs1330958470 CA403009554 |
357 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1280434528 CA403009569 |
358 | V>A | No |
ClinGen gnomAD |
|
|
rs1469439789 CA403009584 |
359 | G>S | No |
ClinGen TOPMed |
|
|
CA9035667 rs766911627 |
360 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760044520 CA9035669 |
363 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM41442 CA9035672 rs758650318 |
367 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753083175 CA304023669 |
367 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs753083175 CA9035671 |
367 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450915542 CA403009785 |
368 | Q>L | No |
ClinGen gnomAD |
|
|
rs1397387328 CA403009901 |
369 | P>H | No |
ClinGen gnomAD |
|
|
rs1387767176 CA403009960 |
372 | L>P | No |
ClinGen TOPMed |
|
|
CA403009986 rs1381383838 |
373 | R>Q | No |
ClinGen gnomAD |
|
|
rs1313069356 CA403009976 |
373 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403009998 rs1243060934 |
374 | R>W | No |
ClinGen gnomAD |
|
|
rs764355304 CA9035690 |
375 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757423370 CA9035692 |
376 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs751873264 CA9035691 |
376 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1255665501 CA403010191 |
380 | R>H | No |
ClinGen gnomAD |
|
|
CA9035695 rs756219547 |
382 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1183647602 CA403010275 |
383 | E>G | No |
ClinGen Ensembl |
|
|
CA9035696 rs780177098 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439599650 CA403010314 |
385 | K>* | No |
ClinGen gnomAD |
|
|
rs868285141 CA304023752 |
387 | A>D | No |
ClinGen gnomAD |
|
|
rs749157208 CA9035697 |
387 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403010353 rs749157208 |
387 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868285141 CA403010361 |
387 | A>V | No |
ClinGen gnomAD |
|
|
rs1599757477 CA403010403 |
388 | W>L | No |
ClinGen Ensembl |
|
|
CA403010467 rs1466926737 |
390 | R>C | No |
ClinGen gnomAD |
|
|
rs1302648887 CA403010470 |
390 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1302648887 CA403010478 |
390 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1466926737 CA403010461 |
390 | R>S | No |
ClinGen gnomAD |
|
|
CA403010523 rs1310745102 |
393 | R>K | No |
ClinGen gnomAD |
|
|
rs754858373 CA9035698 |
393 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1182395627 CA403012532 |
397 | E>G | No |
ClinGen gnomAD |
|
|
rs1382874017 CA403012542 |
398 | A>T | No |
ClinGen gnomAD |
|
|
CA403012550 rs1206900299 |
398 | A>V | No |
ClinGen Ensembl |
|
|
rs994312599 CA304025936 |
400 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1398792993 CA403012593 |
401 | N>S | No |
ClinGen gnomAD |
|
|
rs1424829649 CA403012598 |
402 | L>V | No |
ClinGen TOPMed |
|
|
rs1367066416 CA403012602 |
403 | R>C | No |
ClinGen TOPMed |
|
|
CA304025941 rs1027163163 |
403 | R>H | No |
ClinGen TOPMed |
|
|
rs267605271 CA304025943 |
405 | A>V | No |
ClinGen Ensembl |
|
|
CA403012640 rs1452221533 |
408 | G>A | No |
ClinGen gnomAD |
|
|
rs1452221533 CA403012639 |
408 | G>D | No |
ClinGen gnomAD |
|
|
CA403012636 rs1407062315 |
408 | G>S | No |
ClinGen gnomAD |
|
|
rs746653901 CA403012654 |
410 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746653901 CA9035725 |
410 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403012651 rs1379261703 |
410 | V>L | No |
ClinGen gnomAD |
|
|
CA403012650 rs1379261703 |
410 | V>M | No |
ClinGen gnomAD |
|
|
rs1349182280 CA403012657 |
411 | Q>* | No |
ClinGen gnomAD |
|
|
rs780569777 CA9035727 |
412 | R>S | No |
ClinGen ExAC |
|
|
rs1007263112 CA304025961 |
414 | E>D | No |
ClinGen TOPMed |
|
|
CA403012685 rs1461449369 |
415 | D>Y | No |
ClinGen gnomAD |
|
|
CA403012704 rs1458762302 |
417 | D>E | No |
ClinGen gnomAD |
|
|
CA9035730 rs370567080 |
417 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403012722 rs1568467494 |
420 | R>C | No |
ClinGen Ensembl |
|
|
rs1363097689 CA403012723 |
420 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304025965 rs1045164043 |
421 | F>L | No |
ClinGen Ensembl |
|
|
CA403012733 rs1174064437 |
422 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs941777758 CA403012740 |
423 | V>L | No |
ClinGen gnomAD |
|
|
rs941777758 CA304025976 |
423 | V>M | No |
ClinGen gnomAD |
|
|
rs550040277 CA304025984 |
425 | K>R | No |
ClinGen 1000Genomes |
|
|
CA403012757 rs1328279346 |
426 | A>T | No |
ClinGen gnomAD |
|
|
CA9035733 rs75236288 RCV000951151 |
426 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403012776 rs1323321062 |
428 | E>D | No |
ClinGen gnomAD |
|
|
rs997365959 CA304025986 |
431 | A>T | No |
ClinGen gnomAD |
|
|
rs1195802536 CA403012810 |
433 | S>N | No |
ClinGen gnomAD |
|
|
rs765132004 CA403012816 |
434 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9035737 rs370995062 |
434 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765132004 CA9035738 |
434 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9035740 rs758250463 |
435 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425970651 CA403012825 |
436 | G>E | No |
ClinGen gnomAD |
|
|
rs751285753 CA9035742 |
437 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756913632 CA9035743 |
437 | A>V | No |
ClinGen ExAC |
|
|
CA9035745 rs745396472 |
438 | G>V | No |
ClinGen ExAC |
|
|
rs7251797 CA9035746 |
439 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779336558 CA9035747 |
439 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs374344042 CA9035748 |
440 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227771924 CA403012864 |
441 | A>D | No |
ClinGen gnomAD |
|
|
CA9035750 rs773727145 |
441 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1211555720 CA403012910 |
445 | L>M | No |
ClinGen gnomAD |
|
|
rs1447822155 CA403012916 |
445 | L>R | No |
ClinGen TOPMed |
|
|
CA403012917 rs1490168181 |
446 | D>N | No |
ClinGen gnomAD |
|
|
CA9035754 rs771089963 |
448 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1265087868 CA403012957 |
448 | R>W | No |
ClinGen gnomAD |
|
|
rs1459562652 CA403012967 |
449 | R>Q | No |
ClinGen gnomAD |
|
|
CA403012965 rs1371398651 |
449 | R>W | No |
ClinGen gnomAD |
|
|
rs759588235 CA9035756 |
450 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403012974 rs776881538 |
450 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1300414045 CA403012980 |
451 | L>M | No |
ClinGen gnomAD |
|
|
CA403013004 rs1599762174 |
452 | E>G | No |
ClinGen Ensembl |
|
|
CA403013045 rs1324338166 |
454 | E>K | No |
ClinGen gnomAD |
|
|
rs1247452240 CA403013052 |
454 | E>V | No |
ClinGen gnomAD |
|
|
CA304026033 rs956875696 |
455 | A>T | No |
ClinGen gnomAD |
|
|
CA403013083 rs1358586207 |
455 | A>V | No |
ClinGen gnomAD |
|
|
rs1568471203 CA403014640 |
459 | A>T | No |
ClinGen Ensembl |
|
|
CA9035780 rs774236982 |
459 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206672543 CA403014707 |
461 | E>D | No |
ClinGen gnomAD |
|
|
rs1233548514 CA403014749 |
463 | M>T | No |
ClinGen gnomAD |
|
|
CA403014777 rs1180239829 |
464 | A>G | No |
ClinGen TOPMed |
|
|
rs1599765136 CA403014778 |
465 | T>P | No |
ClinGen Ensembl |
|
|
rs1599765151 CA403014795 |
466 | Y>H | No |
ClinGen Ensembl |
|
|
CA9035787 rs754508225 |
467 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9035788 rs143010365 |
467 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177565927 CA403014858 |
469 | C>S | No |
ClinGen TOPMed |
|
|
rs1199160690 CA403014862 |
469 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1263587007 CA403014873 |
470 | V>A | No |
ClinGen TOPMed |
|
|
CA403014864 rs1428081057 |
470 | V>M | No |
ClinGen gnomAD |
|
|
CA304028769 rs781626058 |
472 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403014916 rs781626058 |
472 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757632402 CA9035790 |
472 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9035792 rs746164210 |
474 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1405260666 CA403014969 |
475 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1293411067 CA403014991 |
477 | K>N | No |
ClinGen TOPMed |
|
|
rs780207425 CA9035794 |
477 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9035796 rs768695525 |
479 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403015035 rs1273771284 |
479 | E>G | No |
ClinGen gnomAD |
|
|
CA9035795 rs542909389 |
479 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774330914 CA9035797 |
480 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1490656722 CA403015066 |
481 | E>G | No |
ClinGen gnomAD |
|
|
CA9035799 rs771835935 |
482 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773071504 CA9035800 |
483 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9035801 rs148386179 |
483 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753518677 CA9035803 |
486 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA403015169 rs753518677 |
486 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs759175437 CA9035804 |
487 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403015180 rs1167712073 |
487 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403015202 rs1599765387 |
489 | R>W | No |
ClinGen Ensembl |
|
|
CA403015310 rs1599765404 |
494 | V>G | No |
ClinGen Ensembl |
|
|
CA403015301 rs1265039551 |
494 | V>I | No |
ClinGen TOPMed |
|
|
CA403015359 rs1433144481 |
496 | R>Q | No |
ClinGen gnomAD |
|
|
rs1013718241 CA304028821 |
497 | Q>* | No |
ClinGen TOPMed |
|
|
rs373642754 CA9035806 |
497 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361542045 CA403015394 |
498 | S>G | No |
ClinGen gnomAD |
|
|
rs1212810341 CA403015400 |
498 | S>N | No |
ClinGen gnomAD |
|
|
CA403015410 rs945681185 |
498 | S>R | No |
ClinGen TOPMed |
|
|
rs1045458692 CA304028823 |
499 | D>N | No |
ClinGen gnomAD |
|
|
rs141510861 CA9035807 |
501 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1240776197 CA403015484 |
502 | I>M | No |
ClinGen TOPMed |
|
|
CA403015469 rs1260924575 |
502 | I>V | No |
ClinGen TOPMed |
|
|
rs867485195 CA304028825 |
504 | S>* | No |
ClinGen Ensembl |
|
|
CA403015526 rs867485195 |
504 | S>L | No |
ClinGen Ensembl |
|
|
rs1377069299 CA403015659 COSM1209822 |
505 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA403015697 rs1439467921 |
507 | I>F | No |
ClinGen gnomAD |
|
|
rs765547324 CA9035850 |
507 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA403015695 rs1439467921 |
507 | I>V | No |
ClinGen gnomAD |
|
|
rs1471520386 CA403015720 |
508 | S>F | No |
ClinGen gnomAD |
|
|
rs752849333 CA9035851 |
508 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421583871 CA403015802 |
511 | Q>R | No |
ClinGen TOPMed |
|
|
rs1469504720 CA403015838 |
513 | M>L | No |
ClinGen gnomAD |
|
|
CA9035856 rs36084354 VAR_042696 |
515 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757284409 CA9035855 |
515 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs745695155 CA9035857 |
516 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1349194001 CA403015937 |
517 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1349194001 CA403015933 |
517 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9035860 rs748884541 |
518 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756171928 CA9035862 |
519 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403015966 rs1222575192 |
519 | P>S | No |
ClinGen gnomAD |
|
|
COSM438503 rs771709375 CA304029024 |
529 | E>Q | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1157973577 CA403016161 |
531 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA304029038 rs529934812 |
537 | G>R | No |
ClinGen Ensembl |
|
|
CA304029050 rs753039872 |
538 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751722959 CA9035871 |
541 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1055932252 CA304029060 |
541 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1427132129 CA403016324 |
542 | S>A | No |
ClinGen gnomAD |
|
|
rs779717430 CA9035876 |
545 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1327843468 CA403016369 |
545 | R>H | No |
ClinGen gnomAD |
|
|
CA403016415 rs1339949752 |
548 | Q>H | No |
ClinGen gnomAD |
|
|
rs1169624214 CA403016426 |
549 | R>P | No |
ClinGen TOPMed |
|
|
CA403016422 rs1248135773 |
549 | R>W | No |
ClinGen gnomAD |
|
|
rs1568473008 CA403016453 |
551 | Q>P | No |
ClinGen Ensembl |
|
|
rs1207858591 CA403016487 |
553 | P>T | No |
ClinGen gnomAD |
|
|
CA403016497 rs1447826040 |
554 | D>N | No |
ClinGen gnomAD |
|
|
rs778495362 CA9035879 |
556 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA403016570 rs1446938934 |
558 | D>E | No |
ClinGen gnomAD |
|
|
CA403016593 rs1164851110 |
560 | E>* | No |
ClinGen gnomAD |
|
|
rs1188138827 CA403016603 |
560 | E>D | No |
ClinGen TOPMed |
|
|
CA403016589 rs1164851110 |
560 | E>K | No |
ClinGen gnomAD |
|
|
CA403016643 rs1384989980 |
563 | V>D | No |
ClinGen gnomAD |
|
|
rs1181902735 CA403016672 |
565 | A>G | No |
ClinGen TOPMed |
|
|
CA9035881 rs771559388 |
565 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs553375246 CA304029133 |
566 | N>S | No |
ClinGen 1000Genomes |
|
|
CA304029129 rs931141320 |
566 | N>Y | No |
ClinGen Ensembl |
|
|
rs753801391 CA9035913 |
568 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs754796242 CA403016816 |
569 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754796242 CA9035914 |
569 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9035915 rs554756628 |
570 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9035917 rs758072591 |
571 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777366691 CA9035918 |
572 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9035919 rs746545841 |
573 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403016842 rs1397140864 |
573 | R>H | No |
ClinGen gnomAD |
|
|
rs1286260881 CA403016865 |
575 | R>Q | No |
ClinGen gnomAD |
|
|
rs1408921059 CA403016863 |
575 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1300676589 CA403016948 |
580 | N>H | No |
ClinGen gnomAD |
|
|
CA9035921 rs780480065 |
580 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA403016962 rs1206729769 |
581 | V>M | No |
ClinGen gnomAD |
|
|
rs1346942044 CA403017000 |
583 | D>A | No |
ClinGen TOPMed |
|
|
CA403017015 rs1252330663 |
584 | V>M | No |
ClinGen gnomAD |
|
|
CA403017056 rs1304006735 |
585 | A>V | No |
ClinGen TOPMed |
|
|
rs373509439 CA9035922 |
586 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9035924 rs774865783 |
590 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9035927 rs772453003 |
591 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772453003 CA9035926 |
591 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9035930 rs376723334 |
592 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766477362 CA9035929 |
592 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367288170 CA403017217 |
593 | P>H | No |
ClinGen gnomAD |
|
|
CA403017338 rs1293099315 |
597 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9035931 rs759484653 |
597 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1293099315 CA403017343 |
597 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9035932 rs765111319 |
598 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9035935 rs763789211 |
599 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs564708145 CA403017439 |
600 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9035936 rs564708145 |
600 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1221315767 CA403017491 |
601 | E>D | No |
ClinGen gnomAD |
|
|
rs1205515741 CA403017559 |
603 | T>I | No |
ClinGen Ensembl |
|
|
rs148488853 CA304029499 |
604 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs148488853 CA403017570 |
604 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403017637 rs1487319617 |
607 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA304029523 rs991206444 |
608 | H>Q | No |
ClinGen Ensembl |
|
|
rs1187714655 CA403017654 |
609 | R>K | No |
ClinGen gnomAD |
|
|
rs1280788729 CA403017661 |
610 | A>T | No |
ClinGen TOPMed |
|
|
rs1402664563 CA403017746 |
610 | A>V | No |
ClinGen gnomAD |
|
|
rs1294788367 CA403017750 |
611 | G>R | No |
ClinGen TOPMed |
|
|
CA9035959 rs753242919 |
614 | H>D | No |
ClinGen ExAC gnomAD |
|
|
COSM3821865 rs150994364 CA9035961 |
614 | H>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM3821865 rs150994364 CA9035960 |
614 | H>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA403017796 rs753242919 |
614 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1338819145 CA403017814 |
615 | Q>E | No |
ClinGen gnomAD |
|
|
CA304029640 rs371192392 |
615 | Q>H | No |
ClinGen TOPMed |
|
|
rs747289949 CA9035962 |
619 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA9035963 rs771217276 |
620 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs949124020 CA304029641 |
620 | W>R | No |
ClinGen TOPMed |
|
|
rs781243037 CA403017948 |
621 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9035964 rs781243037 |
621 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1444997362 CA403017956 |
622 | L>F | No |
ClinGen TOPMed |
|
|
rs1224699093 CA403017981 |
623 | S>W | No |
ClinGen gnomAD |
|
|
CA304029644 rs556616189 |
624 | I>V | No |
ClinGen Ensembl |
|
|
CA403018028 rs1164288467 |
626 | D>H | No |
ClinGen TOPMed |
|
|
rs769854991 CA9035966 COSM397558 |
628 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403018074 rs1206224214 |
628 | D>N | No |
ClinGen gnomAD |
|
|
CA403018104 rs1186840543 |
629 | S>T | No |
ClinGen gnomAD |
|
|
rs562558015 CA9035968 |
633 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9035969 rs762879433 |
633 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562558015 CA403018143 |
633 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562558015 CA304029664 |
633 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145692763 CA9035971 |
634 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145692763 CA304029681 |
634 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9035973 rs767237800 |
635 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9035972 rs548372977 |
635 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403018184 rs1481565478 |
637 | A>T | No |
ClinGen TOPMed |
|
|
CA403019202 rs150294461 |
638 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150294461 CA9035999 |
638 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9035975 rs760319270 |
638 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403019208 rs751999074 |
639 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751999074 CA9036001 |
639 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757710389 CA403019302 |
643 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1012604122 CA304029874 |
643 | F>V | No |
ClinGen TOPMed |
|
|
rs1211420155 CA403019294 |
643 | F>Y | No |
ClinGen gnomAD |
|
|
rs767877136 CA9036003 |
645 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750724810 CA9036004 |
646 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs750724810 CA403019340 |
646 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA9036005 rs756347845 |
648 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036007 rs749424327 |
649 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296695238 CA403019391 |
650 | G>S | No |
ClinGen gnomAD |
|
|
CA9036008 rs754989327 |
651 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs907592355 CA304029918 |
652 | M>T | No |
ClinGen TOPMed |
|
|
rs981750574 CA304029917 |
652 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778966485 CA9036010 |
653 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs778966485 CA9036009 |
653 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1208350857 CA403019477 |
655 | T>M | No |
ClinGen gnomAD |
|
|
rs771987871 CA9036011 |
655 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA403019484 rs1465360370 |
656 | E>K | No |
ClinGen gnomAD |
|
|
rs149053443 CA9036014 |
657 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403019510 rs1599767487 |
657 | E>G | No |
ClinGen Ensembl |
|
|
rs202128250 CA304029927 |
659 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9036015 rs776404517 |
660 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs893155327 CA304029937 |
661 | P>S | No |
ClinGen Ensembl |
|
|
rs554717700 CA9036016 |
663 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs947394037 CA304029947 |
664 | G>E | No |
ClinGen Ensembl |
|
|
CA403019603 rs1161035651 |
665 | A>D | No |
ClinGen gnomAD |
|
|
CA403019617 rs1319328531 |
666 | G>E | No |
ClinGen gnomAD |
|
|
rs775003355 CA9036018 |
666 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403019612 rs775003355 |
666 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403019615 rs775003355 |
666 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036019 rs768058631 |
667 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599767575 CA403019643 |
669 | A>T | No |
ClinGen Ensembl |
|
|
rs776291876 CA304029962 |
672 | Q>* | No |
ClinGen Ensembl |
|
|
CA403019693 rs1250165396 |
672 | Q>H | No |
ClinGen TOPMed |
|
|
CA9036023 rs756437781 |
673 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756437781 CA9036022 |
673 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA403019729 rs1599767878 |
674 | D>A | No |
ClinGen Ensembl |
|
|
rs761174792 CA9036059 |
674 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377173699 CA9036060 |
675 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9036061 rs574558883 |
677 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403019793 rs1416682690 |
679 | T>N | No |
ClinGen TOPMed |
|
|
CA403019788 rs1599767913 |
679 | T>P | No |
ClinGen Ensembl |
|
|
CA9036062 rs759914421 |
680 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA403019801 rs1219835297 |
680 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765427626 CA9036063 |
682 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs765427626 CA403019821 |
682 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9036065 rs763195273 |
683 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938789345 CA304030122 |
684 | V>M | No |
ClinGen Ensembl |
|
|
rs868564527 CA304030128 |
685 | A>V | No |
ClinGen Ensembl |
|
|
CA9036069 rs370399922 |
686 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920369946 CA304030139 |
687 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs920369946 CA403019879 |
687 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750222501 CA9036070 |
688 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1446734364 CA403019884 |
688 | S>N | No |
ClinGen gnomAD |
|
|
rs1170474813 CA403019910 |
690 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1170474813 CA403019912 |
690 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403019905 rs1194532543 |
690 | P>S | No |
ClinGen gnomAD |
|
|
CA403019931 rs1390727589 |
692 | R>G | No |
ClinGen gnomAD |
|
|
rs1428793340 CA403019937 |
692 | R>H | No |
ClinGen gnomAD |
|
|
CA403019940 rs1351812154 |
693 | H>D | No |
ClinGen gnomAD |
|
|
CA9036072 rs149442520 |
693 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293008391 CA403019954 |
694 | E>K | No |
ClinGen gnomAD |
|
|
CA403019956 rs1293008391 |
694 | E>Q | No |
ClinGen gnomAD |
|
|
CA403019973 rs1298896829 |
695 | G>R | No |
ClinGen gnomAD |
|
|
CA9036075 rs778407407 |
697 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA403020028 rs1323117327 |
700 | A>S | No |
ClinGen gnomAD |
|
|
CA403020025 rs1323117327 |
700 | A>T | No |
ClinGen gnomAD |
|
|
CA9036077 rs771382257 |
701 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1027177978 CA304030161 |
702 | T>I | No |
ClinGen Ensembl |
|
|
CA9036078 rs777174070 |
704 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466707300 CA403020076 |
705 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs770192992 CA9036080 |
706 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403020100 rs1184528372 |
707 | K>R | No |
ClinGen gnomAD |
|
|
CA9036082 rs763284554 |
709 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1406153114 CA403020133 |
710 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM1254302 CA403020136 rs1406153114 |
710 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA403020128 rs1599768194 |
710 | T>P | No |
ClinGen Ensembl |
|
|
rs774599922 CA9036084 |
712 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1321328161 CA403020171 |
713 | K>N | No |
ClinGen gnomAD |
|
|
rs1187379318 CA403020166 |
713 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1365075951 CA403020190 |
715 | R>C | No |
ClinGen gnomAD |
|
|
CA304030220 rs944972887 |
716 | E>Q | No |
ClinGen TOPMed |
|
|
rs1406752387 CA403020225 |
718 | N>D | No |
ClinGen TOPMed |
|
|
rs750363323 CA9036087 |
718 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755930265 CA9036088 |
721 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1228123128 CA403020269 |
722 | Y>S | No |
ClinGen gnomAD |
|
|
CA403020275 rs1332265141 |
723 | F>L | No |
ClinGen gnomAD |
|
|
CA403020296 rs1464383488 |
726 | A>T | No |
ClinGen gnomAD |
|
|
rs1470740681 CA403020310 |
728 | C>R | No |
ClinGen TOPMed |
|
|
rs1239143109 CA403020324 |
729 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1213622176 CA403020319 |
729 | E>Q | No |
ClinGen gnomAD |
|
|
rs1022115959 CA304030699 |
732 | C>Y | No |
ClinGen TOPMed |
|
|
rs895743345 CA304030702 |
734 | A>P | No |
ClinGen gnomAD |
|
|
CA403020379 rs895743345 |
734 | A>T | No |
ClinGen gnomAD |
|
|
CA9036106 rs527800226 |
734 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1427532529 CA403020399 |
735 | C>G | No |
ClinGen TOPMed |
|
|
rs552712052 CA9036110 |
745 | I>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403020550 rs1201048159 |
746 | Q>K | No |
ClinGen gnomAD |
|
|
CA403020555 rs1247431819 |
746 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9036111 rs752341017 |
747 | C>F | No |
ClinGen ExAC TOPMed |
|
|
CA403020567 rs752341017 |
747 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
CA403020598 rs1392567230 |
749 | H>Q | No |
ClinGen gnomAD |
|
|
rs1430751462 CA403020612 |
751 | K>Q | No |
ClinGen gnomAD |
|
|
rs746451918 CA9036114 |
751 | K>R | No |
ClinGen ExAC |
|
|
CA9036115 rs756672292 |
752 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs10404947 CA403020647 |
753 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403020654 rs1407902114 |
754 | G>D | No |
ClinGen gnomAD |
|
|
CA9036118 rs769132323 |
755 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA403020668 rs769132323 |
755 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1439544588 CA403020676 |
756 | L>P | No |
ClinGen gnomAD |
|
|
rs1301074776 CA403020687 |
757 | Q>H | No |
ClinGen gnomAD |
|
|
CA403020715 rs1228808077 |
760 | G>C | No |
ClinGen gnomAD |
|
|
CA9036121 rs772128443 |
766 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403020801 rs1568478538 |
767 | A>S | No |
ClinGen Ensembl |
|
|
rs1290876154 CA403020806 |
767 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1191859486 CA403020812 |
768 | R>G | No |
ClinGen gnomAD |
|
|
COSM3718052 rs1250390424 CA403020818 |
768 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA403020834 rs1464706727 |
770 | A>T | No |
ClinGen TOPMed |
|
|
rs1371772648 CA403020843 |
770 | A>V | No |
ClinGen gnomAD |
|
|
rs1164586761 CA403020853 |
771 | P>R | No |
ClinGen gnomAD |
|
|
CA403020847 rs1460143499 |
771 | P>S | No |
ClinGen gnomAD |
|
|
rs776535961 CA9036126 |
772 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036125 rs776535961 |
772 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036128 rs752374817 |
775 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1049187809 CA304030792 |
776 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs888762738 CA304030795 |
777 | I>M | No |
ClinGen TOPMed |
|
|
rs763610281 CA9036130 |
778 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1246725209 CA403020953 |
781 | C>R | No |
ClinGen gnomAD |
|
|
CA403020966 rs1355937003 |
782 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1355937003 CA403020968 |
782 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403020986 rs1211868015 |
783 | C>F | No |
ClinGen gnomAD |
|
|
rs780767833 CA9036134 |
786 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9036136 rs754395835 |
787 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9036135 rs754395835 |
787 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs984188443 CA403021031 |
787 | R>W | No |
ClinGen gnomAD |
|
|
CA403021037 rs1474705245 |
788 | R>W | No |
ClinGen gnomAD |
|
|
CA9036138 rs748414169 |
790 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9036139 rs772371817 |
791 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772371817 CA403021061 |
791 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342187972 CA403021073 |
792 | T>N | No |
ClinGen TOPMed |
|
|
rs901596687 CA304030844 |
793 | K>T | No |
ClinGen TOPMed |
|
|
rs1170278440 CA403021115 |
795 | I>V | No |
ClinGen gnomAD |
|
|
CA403021132 rs1420818762 |
797 | R>P | No |
ClinGen TOPMed |
|
|
rs1296520262 CA403021137 |
798 | V>D | No |
ClinGen gnomAD |
|
|
CA9036171 rs140435282 |
799 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403021151 rs1387428844 |
800 | G>A | No |
ClinGen gnomAD |
|
|
CA9036172 rs768336375 |
802 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1458415560 CA403021175 |
804 | R>H | No |
ClinGen gnomAD |
|
|
CA403021179 rs1231043239 |
805 | V>M | No |
ClinGen gnomAD |
|
|
rs767231509 CA403021220 |
810 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA403021267 rs1239799682 |
815 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9036179 rs753139365 |
816 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs961445186 CA403021309 |
817 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1165698367 CA403021335 |
820 | E>Q | No |
ClinGen gnomAD |
|
|
CA403021379 rs1568479781 |
823 | Q>L | No |
ClinGen Ensembl |
|
|
CA9036184 rs757497966 |
825 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036187 rs139194512 |
829 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1053680066 CA304031002 |
830 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1437983478 CA403021477 |
832 | V>I | No |
ClinGen gnomAD |
|
|
CA403022578 rs1311854334 |
840 | L>F | No |
ClinGen gnomAD |
|
|
CA403022586 rs562294133 |
841 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304032554 rs1036222484 |
841 | P>L | No |
ClinGen Ensembl |
|
|
CA9036219 rs562294133 |
841 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403022588 rs562294133 |
841 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1349864888 CA403022603 |
842 | E>K | No |
ClinGen gnomAD |
|
|
CA403022638 rs1383377713 |
844 | L>V | No |
ClinGen TOPMed |
|
|
rs766585789 CA403022660 |
845 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766585789 CA9036224 |
845 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036225 rs753907813 |
845 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172190920 CA403022687 |
846 | S>C | No |
ClinGen gnomAD |
|
|
rs1051103026 CA304032561 |
847 | F>Y | No |
ClinGen Ensembl |
|
|
CA9036228 rs144254022 |
848 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs551364479 CA9036229 |
849 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460574394 CA403022750 |
850 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403022773 rs370530787 |
851 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1434434597 CA403022805 |
853 | L>F | No |
ClinGen gnomAD |
|
|
rs745423074 CA9036234 |
854 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770525941 CA9036232 |
854 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770525941 CA9036233 |
854 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462816746 CA403022837 |
855 | G>E | No |
ClinGen TOPMed |
|
|
CA9036236 rs774919028 |
857 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403022859 rs774919028 |
857 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403022914 rs1233266631 |
860 | S>G | No |
ClinGen gnomAD |
|
|
CA403022919 rs1599772211 |
860 | S>N | No |
ClinGen Ensembl |
|
|
CA304032573 rs1052549542 |
861 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373347543 CA9036238 |
863 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373347543 CA403022963 |
863 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295419559 CA403022991 |
865 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA403022986 rs1272581559 |
865 | A>T | No |
ClinGen gnomAD |
|
|
rs1295419559 CA403022995 |
865 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776899765 CA9036242 |
866 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9036241 rs766560903 |
866 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403023025 rs1454250590 |
867 | A>T | No |
ClinGen gnomAD |
|
|
CA403023054 rs1392479914 |
868 | K>N | No |
ClinGen gnomAD |
|
|
CA9036243 rs377324086 |
868 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1031664002 CA304032594 |
869 | A>T | No |
ClinGen Ensembl |
|
|
rs957017104 CA304032597 |
869 | A>V | No |
ClinGen gnomAD |
|
|
CA304032599 rs992195848 |
870 | A>V | No |
ClinGen Ensembl |
|
|
COSM1390088 rs1407666349 CA403023100 |
872 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765420628 CA9036244 |
872 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1456811093 CA403023126 |
874 | R>G | No |
ClinGen TOPMed |
|
|
rs752775187 CA9036245 |
874 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403023156 rs1300969525 |
875 | Q>L | No |
ClinGen gnomAD |
|
|
rs1269788385 CA403023186 |
877 | G>A | No |
ClinGen gnomAD |
|
|
CA403023176 rs1227895148 |
877 | G>S | No |
ClinGen gnomAD |
|
|
rs764088710 CA9036247 |
878 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs908993621 CA304032611 |
880 | S>T | No |
ClinGen TOPMed |
|
|
CA403023265 rs1273958806 |
882 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1468415100 CA403023270 |
883 | V>L | No |
ClinGen gnomAD |
|
|
rs1468415100 CA403023266 |
883 | V>M | No |
ClinGen gnomAD |
|
|
CA403023284 rs1212300563 |
884 | A>P | No |
ClinGen gnomAD |
|
|
CA9036249 rs757057731 |
884 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192946805 CA403023295 |
885 | V>M | No |
ClinGen gnomAD |
|
|
VAR_042697 rs34569196 CA9036250 |
886 | A>P | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs34569196 CA403023308 |
886 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs919127240 CA304032619 |
887 | L>P | No |
ClinGen Ensembl |
|
|
CA403023337 rs1474246632 |
888 | A>T | No |
ClinGen gnomAD |
|
|
CA403023367 rs1460482175 |
890 | R>Q | No |
ClinGen gnomAD |
|
|
rs113006823 CA403023440 |
896 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA304032623 rs113006823 |
896 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403023494 rs1334163584 |
899 | P>Q | No |
ClinGen gnomAD |
|
|
rs1294149743 CA403023492 |
899 | P>S | No |
ClinGen gnomAD |
|
|
rs747390396 CA9036257 |
900 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352100038 CA403023558 |
903 | R>Q | No |
ClinGen gnomAD |
|
|
rs545839589 CA304032629 |
903 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1260167600 CA403023566 |
904 | A>T | No |
ClinGen gnomAD |
|
|
CA403023622 rs1257795171 |
907 | Q>H | No |
ClinGen gnomAD |
|
|
rs891148079 CA304032632 |
907 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1365429858 CA403023636 |
908 | Y>F | No |
ClinGen TOPMed |
|
|
rs1158112569 CA403023661 |
910 | L>M | No |
ClinGen TOPMed |
|
|
CA403023680 rs951597909 |
911 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs951597909 CA304032636 |
911 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9036261 rs765513894 |
911 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA403023726 rs1382434592 |
914 | R>C | No |
ClinGen gnomAD |
|
|
CA403023725 rs1382434592 |
914 | R>G | No |
ClinGen gnomAD |
|
|
rs1479333664 CA403023728 |
914 | R>H | No |
ClinGen TOPMed |
|
|
rs1313671316 CA403023732 |
915 | R>K | No |
ClinGen gnomAD |
|
|
rs945868274 CA304032682 |
917 | V>L | No |
ClinGen TOPMed |
|
|
CA403023761 rs1397316285 |
918 | E>K | No |
ClinGen gnomAD |
|
|
rs767322158 CA9036286 |
919 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9036287 rs750277079 |
920 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA403023790 rs1431515590 |
921 | Q>H | No |
ClinGen TOPMed |
|
|
CA403023785 rs1599773040 |
921 | Q>R | No |
ClinGen Ensembl |
|
|
CA9036288 rs760441246 |
922 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs533542089 CA304032685 |
924 | K>R | No |
ClinGen Ensembl |
|
|
CA403023849 rs1255681326 |
926 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778506484 CA9036292 |
928 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036291 rs754560435 |
928 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403023874 rs1417253058 |
929 | N>S | No |
ClinGen TOPMed |
|
|
CA403023920 rs1213457779 |
933 | V>L | No |
ClinGen gnomAD |
|
|
rs867366088 CA304032697 |
935 | G>E | No |
ClinGen Ensembl |
|
|
rs746288991 CA9036296 |
936 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780496081 CA9036298 |
939 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779213412 CA403024014 |
940 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304032706 rs779213412 |
940 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9036300 rs768714766 |
940 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1381360977 CA403024040 |
942 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403024068 rs1275927907 |
944 | T>A | No |
ClinGen gnomAD |
|
|
rs1275927907 CA403024065 |
944 | T>P | No |
ClinGen gnomAD |
|
|
rs904436394 CA304032712 |
945 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761772625 CA9036302 |
946 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA403024146 rs1215644001 |
949 | S>F | No |
ClinGen TOPMed |
|
|
CA403024185 rs1485426929 |
952 | S>F | No |
ClinGen gnomAD |
|
|
rs1485426929 CA403024184 |
952 | S>Y | No |
ClinGen gnomAD |
|
|
CA9036304 rs773120998 |
954 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403024227 rs1475547142 |
955 | D>Y | No |
ClinGen gnomAD |
|
|
rs1482612233 CA403024287 |
958 | H>Y | No |
ClinGen gnomAD |
|
|
CA403024326 rs1403020758 |
960 | A>S | No |
ClinGen gnomAD |
|
|
CA403024348 rs1344917562 |
961 | R>H | No |
ClinGen gnomAD |
|
|
CA403024373 rs1295920597 |
962 | V>I | No |
ClinGen gnomAD |
|
|
rs1414843555 CA403024397 |
963 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766168479 CA9036306 |
963 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1292183410 CA403024399 |
964 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753572994 CA9036307 |
965 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9036308 rs759262742 |
965 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403024423 rs1284869856 |
966 | L>F | No |
ClinGen gnomAD |
|
|
CA9036309 rs764763685 |
967 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9036310 rs752300010 |
968 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867421472 CA304032727 |
969 | H>N | No |
ClinGen gnomAD |
|
|
CA403024459 rs1187304257 |
969 | H>R | No |
ClinGen gnomAD |
|
|
rs867421472 CA403024454 |
969 | H>Y | No |
ClinGen gnomAD |
|
|
CA403024482 rs972271366 |
971 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs972271366 CA304032730 |
971 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757832494 CA9036311 |
972 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036313 rs750967298 |
975 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403024527 rs750967298 |
975 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403024539 rs1311536207 |
976 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1311536207 CA403024540 |
976 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs140579661 CA9036314 |
978 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403024571 rs140579661 |
978 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403024600 rs1443778246 |
980 | E>D | No |
ClinGen gnomAD |
|
|
rs780591738 CA9036315 |
980 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs749632976 CA9036316 |
981 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371532691 CA403024620 |
982 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9036317 rs371532691 |
982 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403024629 rs1276778702 |
983 | G>E | No |
ClinGen gnomAD |
|
|
CA403024624 rs1210367885 |
983 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1210367885 CA403024628 |
983 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403024638 rs1439595283 |
984 | G>D | No |
ClinGen gnomAD |
|
|
rs150488857 CA403024795 |
986 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372197831 CA9036345 |
987 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9036346 rs372197831 |
987 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403024832 rs1189507633 |
990 | N>D | No |
ClinGen gnomAD |
|
|
CA403024831 rs1189507633 |
990 | N>H | No |
ClinGen gnomAD |
|
|
CA403024855 rs1161232446 |
991 | Q>H | No |
ClinGen gnomAD |
|
|
CA403024851 rs1312379695 |
991 | Q>R | No |
ClinGen TOPMed |
|
|
CA9036348 rs762532921 |
992 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs536596194 CA9036349 |
993 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771948346 CA9036350 |
994 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs771948346 CA9036351 |
994 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs945869669 CA304033387 |
994 | E>K | No |
ClinGen Ensembl |
|
|
rs754297297 CA9036353 |
996 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765535729 CA9036355 |
997 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA9036356 rs753058163 |
998 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA304033431 rs200996578 |
999 | V>M | No |
ClinGen Ensembl |
|
|
CA403024949 rs1263021489 |
1000 | P>Q | No |
ClinGen gnomAD |
|
|
rs758658625 CA9036357 |
1000 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403024988 rs757323966 |
1003 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs747149889 CA9036359 |
1003 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403024992 rs1178377926 |
1004 | A>T | No |
ClinGen gnomAD |
|
|
CA403024999 rs1212400408 |
1004 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779742057 CA9036364 |
1006 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036363 rs769720722 |
1006 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768474622 CA9036366 |
1007 | A>V | No |
ClinGen ExAC |
|
|
CA403025046 rs1358853669 |
1008 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403025049 rs1313728558 |
1009 | V>L | No |
ClinGen gnomAD |
|
|
CA403025080 COSM3821870 rs1568486425 |
1011 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9036368 rs774137567 |
1011 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036371 rs772721006 |
1012 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1307617533 CA403025097 |
1013 | Q>P | No |
ClinGen gnomAD |
|
|
CA9036373 rs138719751 |
1014 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9036372 rs146827391 RCV000903812 |
1014 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9036375 rs763289719 |
1015 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751784690 CA9036377 |
1016 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036380 rs781150380 |
1017 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036379 rs781150380 |
1017 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370204596 CA403025171 |
1019 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403025173 rs370204596 |
1019 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112975635 RCV000910325 CA9036383 |
1019 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs112975635 CA9036384 |
1019 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370204596 CA9036385 |
1019 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403025179 rs1599775671 |
1020 | C>G | No |
ClinGen Ensembl |
|
|
rs1489653774 CA403025191 |
1021 | R>G | No |
ClinGen TOPMed |
|
|
CA9036426 rs754998108 |
1024 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA403025692 rs200007611 |
1024 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403025689 rs200007611 |
1024 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200007611 CA9036427 |
1024 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1163523218 CA403025695 |
1025 | V>L | No |
ClinGen TOPMed |
|
|
CA9036428 rs752595385 |
1026 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA403025701 rs1286967321 |
1026 | V>M | No |
ClinGen gnomAD |
|
|
CA304035564 rs758207031 |
1028 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036430 rs758207031 |
1028 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756806864 CA9036433 |
1029 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036432 rs746687878 |
1029 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9036434 rs780707890 |
1030 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418780320 CA403025750 |
1031 | D>G | No |
ClinGen gnomAD |
|
|
rs993317906 CA9036437 |
1032 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403025757 rs1295967135 |
1032 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1448147293 CA403025770 |
1033 | D>N | No |
ClinGen gnomAD |
|
|
rs1302148502 CA403025780 |
1034 | L>V | No |
ClinGen gnomAD |
|
|
rs756651645 CA9036442 |
1036 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309799995 CA403025812 |
1036 | E>D | No |
ClinGen gnomAD |
|
|
CA403025809 rs756651645 |
1036 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309666571 CA403025823 |
1037 | A>V | No |
ClinGen TOPMed |
|
|
rs772494122 CA9036443 |
1038 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA403025840 rs1325128034 |
1039 | E>D | No |
ClinGen TOPMed |
|
|
rs532029491 CA9036445 |
1039 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532029491 CA403025835 |
1039 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1209558584 CA403025846 |
1040 | L>P | No |
ClinGen gnomAD |
|
|
rs766472040 CA9036446 |
1040 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759668883 CA9036448 |
1041 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403025861 rs752685085 |
1043 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036450 rs752685085 |
1043 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006100844 CA304035752 |
1043 | S>P | No |
ClinGen Ensembl |
|
|
CA9036452 rs763971630 |
1044 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403025885 rs1426864085 |
1047 | S>T | No |
ClinGen gnomAD |
|
|
CA9036455 rs141770858 |
1048 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9036456 rs749991473 |
1048 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9036459 rs150592598 |
1053 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1305862066 CA403026550 |
1057 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA403026600 rs1486290751 |
1059 | Q>* | No |
ClinGen TOPMed |
|
|
rs1288405374 CA403026601 |
1059 | Q>P | No |
ClinGen TOPMed |
|
|
rs964693185 CA304035812 |
1060 | S>G | No |
ClinGen TOPMed |
|
|
rs771329937 CA9036463 |
1061 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747306288 CA9036462 |
1061 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA304035822 rs764813474 |
1062 | A>S | No |
ClinGen Ensembl |
|
|
CA9036464 rs776987188 |
1063 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA403026679 rs759764074 |
1063 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9036465 rs759764074 |
1063 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs770006559 CA403026681 |
1063 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036467 rs775661484 |
1064 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9036468 rs762974380 |
1065 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763903192 CA9036469 |
1066 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751416873 CA9036470 |
1067 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751416873 CA403026735 |
1067 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751416873 CA403026730 |
1067 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403026747 rs1171649323 |
1068 | S>A | No |
ClinGen gnomAD |
|
|
rs761496998 CA9036471 |
1069 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403026768 rs1360652404 |
1069 | G>D | No |
ClinGen TOPMed |
|
|
CA9036472 rs750028838 |
1070 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403026814 rs923781597 |
1072 | S>G | No |
ClinGen gnomAD |
|
|
rs923781597 CA304035898 |
1072 | S>R | No |
ClinGen gnomAD |
|
|
rs139988914 CA9036475 |
1073 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403026836 rs896446905 |
1073 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9036474 rs139988914 |
1073 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304035903 rs896446905 |
1073 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9036479 rs747466806 |
1076 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758984514 CA9036477 |
1076 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778121756 CA9036478 |
1076 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1282568989 CA403026942 |
1078 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403027013 rs1265495565 |
1081 | T>I | No |
ClinGen TOPMed |
|
|
CA403027023 rs1485468895 |
1082 | A>T | No |
ClinGen TOPMed |
|
|
CA9036481 rs143375314 |
1082 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304035958 rs770097312 |
1083 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036483 rs770097312 |
1083 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746110852 CA9036482 |
1083 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304035985 rs938674143 |
1084 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs376409055 CA304035984 |
1084 | E>G | No |
ClinGen TOPMed |
|
|
rs1193816521 CA403027056 |
1084 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs775678724 CA9036490 |
1085 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA403027091 rs1167826240 |
1085 | D>N | No |
ClinGen TOPMed |
|
|
rs774148820 CA9036495 |
1086 | G>E | No |
ClinGen ExAC |
|
|
rs768695701 CA9036492 |
1086 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403027122 rs1599781218 |
1087 | D>A | No |
ClinGen Ensembl |
|
|
CA9036498 rs200504479 |
1087 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189926718 CA403027112 |
1087 | D>N | No |
ClinGen TOPMed |
|
|
rs201676233 CA9036503 COSM1582386 |
1088 | G>E | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA9036500 rs760355452 |
1088 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036499 rs760355452 |
1088 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304036097 rs201676233 |
1088 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs1333583427 CA403027151 |
1089 | D>Y | No |
ClinGen TOPMed |
|
|
RCV000957807 CA9036507 rs61734935 |
1090 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
CA9036506 rs746762048 |
1090 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746762048 CA403027174 |
1090 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403027202 rs746203295 |
1091 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403027196 rs781711272 |
1091 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036512 rs781711272 |
1091 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036513 rs746203295 |
1091 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148933347 CA403027215 |
1092 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148933347 CA9036515 |
1092 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768624798 CA9036517 |
1093 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768624798 CA9036518 |
1093 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036516 rs749449237 |
1093 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036522 rs773035206 |
1095 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA403027283 rs1239913784 |
1095 | Q>R | No |
ClinGen TOPMed |
|
|
rs766117066 CA9036525 |
1096 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs766117066 CA9036524 |
1096 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA9036528 rs369642333 |
1099 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9036527 rs369642333 |
1099 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369018231 CA403027367 |
1099 | G>R | No |
ClinGen gnomAD |
|
|
rs768114956 CA9036530 |
1101 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA403027433 rs1297837282 |
1102 | T>A | No |
ClinGen gnomAD |
|
|
CA403027448 rs1358653663 |
1102 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403027431 rs1297837282 |
1102 | T>P | No |
ClinGen gnomAD |
|
|
CA403027447 rs1358653663 |
1102 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403027474 rs1335415544 |
1104 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1335415544 CA403027472 |
1104 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9036532 rs756540853 |
1105 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9036533 rs555196334 |
1106 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9036535 rs147739351 |
1106 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9036534 rs201763617 |
1106 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403027513 rs201763617 |
1106 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9036536 rs778890459 |
1107 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA304036368 rs374136484 |
1107 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403027539 rs1568492715 |
1107 | N>S | No |
ClinGen Ensembl |
|
|
rs142667237 CA9036538 |
1108 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941390629 CA304036416 |
1110 | Q>R | No |
ClinGen Ensembl |
|
|
rs1185132193 CA403027598 |
1111 | A>S | No |
ClinGen gnomAD |
|
|
rs200035322 CA9036542 |
1112 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403027617 rs1239714628 |
1112 | P>S | No |
ClinGen gnomAD |
|
|
CA9036547 rs768204565 |
1114 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9036546 rs762537828 |
1114 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403027661 rs762537828 |
1114 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1394734097 CA403027683 |
1115 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA304036465 rs146748497 |
1115 | P>L | No |
ClinGen ESP |
|
|
rs1394734097 CA403027682 |
1115 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA304036474 rs993092494 |
1116 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs766677356 CA9036550 |
1116 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs761187830 CA9036549 |
1116 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA403027747 rs1477657446 |
1117 | R>S | No |
ClinGen TOPMed |
|
|
CA403027750 rs1246739345 |
1118 | L>V | No |
ClinGen TOPMed |
|
|
CA9036551 rs367967556 |
1119 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139251906 CA9036552 |
1119 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304036495 rs139251906 |
1119 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1343675899 CA403027799 |
1120 | G>D | No |
ClinGen gnomAD |
|
|
COSM161576 rs1444378035 CA403027798 |
1120 | G>S | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9036557 rs150328583 |
1121 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9036558 rs150328583 |
1121 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403027834 rs371515757 |
1122 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371515757 CA9036560 |
1122 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9036559 rs780886624 |
1122 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403027850 rs921078033 |
1123 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs921078033 CA304036567 |
1123 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149452932 CA9036563 |
1124 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9036562 rs137868278 |
1124 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761118815 CA9036566 |
1125 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773951944 CA9036565 |
1125 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304036607 rs780943713 |
1126 | G>D | No |
ClinGen Ensembl |
|
|
rs980703708 CA304036600 |
1126 | G>R | No |
ClinGen gnomAD |
|
|
rs980703708 CA403027898 |
1126 | G>S | No |
ClinGen gnomAD |
|
|
rs1388080590 CA403027916 |
1127 | S>A | No |
ClinGen gnomAD |
|
|
rs1568493366 CA403027947 |
1128 | C>S | No |
ClinGen Ensembl |
|
|
rs752923670 CA9036571 |
1129 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403027993 rs1318593762 |
1130 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758563893 CA9036572 |
1130 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403027994 rs1318593762 |
1130 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA304036629 rs941330235 |
1131 | R>G | No |
ClinGen Ensembl |
|
|
rs1402031786 CA403028016 |
1132 | Q>* | No |
ClinGen TOPMed |
|
|
CA403028035 rs1353838782 |
1132 | Q>H | No |
ClinGen TOPMed |
|
|
CA9036573 rs777858522 |
1133 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9036574 rs374187849 |
1133 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403028092 rs141864446 |
1135 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9036577 rs745716504 |
1135 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745716504 CA403028080 |
1135 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768384669 CA9036581 |
1136 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304036693 rs369763242 |
1136 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9036579 rs369763242 |
1136 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369763242 CA9036580 |
1136 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9036582 rs774045477 |
1137 | V>W | No |
ClinGen ExAC gnomAD |
No associated diseases with Q92619
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR15228 | SPERMATHECAL PHYSIOLOGY VARIANT |
| PANTHER Subfamily | PTHR15228:SF18 | RHO GTPASE-ACTIVATING PROTEIN 45 |
| PANTHER Protein Class |
G-protein modulator
GTPase-activating protein |
|
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| metal ion binding | Binding to a metal ion. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFSRKKRELM | KTPSISKKNR | AGSPSPQPSG | ELPRKDGADA | VFPGPSLEPP | AGSSGVKATG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLKRPTSLSR | HASAAGFPLS | GAASWTLGRS | HRSPLTAASP | GELPTEGAGP | DVVEDISHLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ADVARFAEGL | EKLKECVLRD | DLLEARRPRA | HECLGEALRV | MHQIISKYPL | LNTVETLTAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTLIAKVKAF | HYESNNDLEK | QEFEKALETI | AVAFSSTVSE | FLMGEVDSST | LLAVPPGDSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QSMESLYGPG | SEGTPPSLED | CDAGCLPAEE | VDVLLQRCEG | GVDAALLYAK | NMAKYMKDLI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SYLEKRTTLE | MEFAKGLQKI | AHNCRQSVMQ | EPHMPLLSIY | SLALEQDLEF | GHSMVQAVGT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQTQTFMQPL | TLRRLEHEKR | RKEIKEAWHR | AQRKLQEAES | NLRKAKQGYV | QRCEDHDKAR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FLVAKAEEEQ | AGSAPGAGST | ATKTLDKRRR | LEEEAKNKAE | EAMATYRTCV | ADAKTQKQEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EDTKVTALRQ | IQEVIRQSDQ | TIKSATISYY | QMMHMQTAPL | PVHFQMLCES | SKLYDPGQQY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ASHVRQLQRD | QEPDVHYDFE | PHVSANAWSP | VMRARKSSFN | VSDVARPEAA | GSPPEEGGCT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EGTPAKDHRA | GRGHQVHKSW | PLSISDSDSG | LDPGPGAGDF | KKFERTSSSG | TMSSTEELVD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PDGGAGASAF | EQADLNGMTP | ELPVAVPSGP | FRHEGLSKAA | RTHRLRKLRT | PAKCRECNSY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VYFQGAECEE | CCLACHKKCL | ETLAIQCGHK | KLQGRLQLFG | QDFSHAARSA | PDGVPFIVKK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CVCEIERRAL | RTKGIYRVNG | VKTRVEKLCQ | AFENGKELVE | LSQASPHDIS | NVLKLYLRQL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PEPLISFRLY | HELVGLAKDS | LKAEAEAKAA | SRGRQDGSES | EAVAVALAGR | LRELLRDLPP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ENRASLQYLL | RHLRRIVEVE | QDNKMTPGNL | GIVFGPTLLR | PRPTEATVSL | SSLVDYPHQA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RVIETLIVHY | GLVFEEEPEE | TPGGQDESSN | QRAEVVVQVP | YLEAGEAVVY | PLQEAAADGC |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| RESRVVSNDS | DSDLEEASEL | LSSSEASALG | HLSFLEQQQS | EASLEVASGS | HSGSEEQLEA |
| 1090 | 1100 | 1110 | 1120 | 1130 | |
| TAREDGDGDE | DGPAQQLSGF | NTNQSNNVLQ | APLPPMRLRG | GRMTLGSCRE | RQPEFV |