Q16891
PR
Gene name |
IMMT (HMP, MIC60, MINOS2, PIG4, PIG52) |
Protein name |
MICOS complex subunit MIC60 |
Names |
Cell proliferation-inducing gene 4/52 protein, Mitochondrial inner membrane protein, Mitofilin, p87/89 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10989 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q16891
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16891-F1 | Predicted | AlphaFoldDB |
591 variants for Q16891
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA347538139 rs1440298247 |
2 | L>P | No |
ClinGen gnomAD |
|
|
CA1748381 rs544313627 |
4 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189432680 CA347538127 |
5 | C>R | No |
ClinGen gnomAD |
|
|
rs1449508486 CA347538114 |
6 | Q>H | No |
ClinGen gnomAD |
|
|
CA347538116 rs1220378775 |
6 | Q>R | No |
ClinGen gnomAD |
|
|
CA347538101 rs1254390684 |
8 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1748380 rs576909274 |
9 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347538087 rs1353665552 |
11 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1353665552 CA347538088 |
11 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1214196747 CA347538074 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs1339255823 CA347538058 |
14 | A>S | No |
ClinGen TOPMed |
|
|
rs1368411516 CA347538052 |
15 | Q>* | No |
ClinGen gnomAD |
|
|
CA51342142 rs756236994 |
15 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 16 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777412862 CA1748353 |
16 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs757999663 CA1748352 |
17 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1198061712 CA347537031 |
19 | C>Y | No |
ClinGen gnomAD |
|
|
rs1337737385 CA347537016 |
21 | K>T | No |
ClinGen gnomAD |
|
|
rs753191871 CA1748351 |
24 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1748350 rs765880073 |
25 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748349 rs553749237 |
25 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553749237 CA347536990 |
25 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754210825 CA1748348 |
26 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754210825 CA347536988 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773363739 CA1748345 |
28 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767527127 CA1748344 |
28 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1290378617 CA347536965 |
30 | C>Y | No |
ClinGen TOPMed |
|
|
CA1748342 rs201861204 |
31 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201861204 CA1748343 |
31 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347536959 rs1294944000 |
31 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1748341 rs769742350 |
32 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1748340 rs759438868 |
34 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs776452059 CA347536939 |
34 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748339 rs776452059 |
34 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150201708 CA1748338 |
35 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1748336 rs187270312 |
37 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1261632881 CA347536905 |
40 | G>E | No |
ClinGen TOPMed |
|
|
CA347536908 rs1436171743 |
40 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347536874 rs1219011247 |
43 | T>A | No |
ClinGen gnomAD |
|
|
CA347536846 rs1489156584 |
47 | A>S | No |
ClinGen gnomAD |
|
|
CA1748316 rs772953908 |
49 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1181986840 CA347536817 |
52 | L>S | No |
ClinGen TOPMed |
|
|
rs372519627 CA1748314 |
53 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778562251 CA1748313 |
54 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs927748223 CA51332222 |
58 | I>T | No |
ClinGen Ensembl |
|
|
rs768109792 CA1748312 |
62 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs11537826 CA51332207 |
63 | L>V | No |
ClinGen Ensembl |
|
|
CA51332204 rs199807976 |
64 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1401396957 CA347536697 |
70 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 71 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1748308 rs750806926 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756459398 CA1748309 |
72 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347536676 rs1404950565 |
74 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1748306 rs757436693 |
75 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA51332168 rs969250947 |
78 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200411502 CA347536633 |
80 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs200411502 CA51332154 |
80 | P>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs369196235 CA1748305 |
80 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1748304 rs376734555 |
83 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753773498 CA1748302 |
87 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753773498 CA347536589 |
87 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760718910 CA1748300 |
88 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA347536582 rs1445255248 |
88 | M>V | No |
ClinGen gnomAD |
|
|
rs773111620 CA1748299 |
89 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs767486826 CA1748298 |
91 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA347536546 rs1348602922 |
94 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1220160405 CA347536536 |
95 | Y>C | No |
ClinGen gnomAD |
|
|
CA347536517 rs1483544785 |
98 | P>A | No |
ClinGen TOPMed |
|
|
CA1748296 rs774159747 |
100 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM257172 CA347536494 rs1342588817 |
101 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1023468 CA347536479 rs1334774616 |
103 | S>L | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1333494018 CA347536464 |
104 | I>N | No |
ClinGen gnomAD |
|
|
CA51329690 rs1056760146 |
105 | Q>R | No |
ClinGen TOPMed |
|
|
rs750446231 CA1748282 |
106 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1181046755 CA347536452 |
106 | S>P | No |
ClinGen TOPMed |
|
|
CA347536448 rs376275324 |
107 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347536446 rs1415777650 |
107 | G>D | No |
ClinGen gnomAD |
|
|
CA1748280 rs376275324 |
107 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748279 rs774013263 |
109 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA51329671 rs942398832 |
111 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs560225034 CA1748278 |
111 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762714231 CA1748277 |
112 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762714231 CA347536416 |
112 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231752033 CA347536412 |
113 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1748276 rs368769430 |
114 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1748275 rs375595587 |
115 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347536397 rs1222179287 |
116 | E>K | No |
ClinGen gnomAD |
|
|
CA51329664 rs905375958 |
117 | V>E | No |
ClinGen Ensembl |
|
| TCGA novel | 117 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347536381 rs1336289158 |
118 | M>T | No |
ClinGen TOPMed |
|
|
rs368903288 CA1748273 |
122 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368903288 CA1748274 |
122 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050301 CA51329658 |
124 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1050301 VAR_021530 CA1748272 |
124 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 130 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347536274 rs1438947171 |
133 | G>E | No |
ClinGen gnomAD |
|
|
rs758521673 CA1748269 COSM3933700 |
134 | D>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1748268 rs59649940 |
135 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755124517 CA1748266 |
138 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51329645 rs908848556 |
138 | S>P | No |
ClinGen Ensembl |
|
|
rs970442848 CA51376540 |
143 | T>I | No |
ClinGen Ensembl |
|
|
rs748262899 CA1748250 |
145 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41291147 CA51376527 |
148 | I>N | No |
ClinGen Ensembl |
|
|
CA1748249 rs779202285 |
148 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768815296 COSM116465 CA1748248 |
150 | S>F | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1279906262 CA347561875 |
151 | A>T | No |
ClinGen gnomAD |
|
|
CA51376523 rs766689405 |
152 | A>V | No |
ClinGen gnomAD |
|
|
CA347561850 rs1360958286 |
153 | G>S | No |
ClinGen gnomAD |
|
|
CA347561819 rs1287064593 |
155 | T>N | No |
ClinGen gnomAD |
|
|
CA347561825 rs1573920719 |
155 | T>P | No |
ClinGen Ensembl |
|
|
rs373215755 CA1748247 |
157 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347561766 rs1467950075 |
161 | P>A | No |
ClinGen gnomAD |
|
|
CA1748244 rs757228954 |
161 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA347561758 rs1428315193 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA347561749 rs1417732814 |
162 | A>V | No |
ClinGen gnomAD |
|
|
CA1748243 rs751577008 |
163 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1270008325 CA347561737 |
164 | Q>E | No |
ClinGen gnomAD |
|
|
CA51376504 rs1026784585 |
165 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 166 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1748241 rs376878521 |
166 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373945557 CA1748238 |
167 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373945557 CA1748239 |
167 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1041161061 CA51376495 |
168 | S>F | No |
ClinGen Ensembl |
|
|
CA1748237 rs368856346 |
168 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226902175 CA347561674 |
169 | L>F | No |
ClinGen gnomAD |
|
|
rs1306707670 CA347561660 |
171 | T>P | No |
ClinGen gnomAD |
|
|
rs373708861 CA1748235 |
172 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773783280 CA1748234 |
174 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA347561604 rs1449870071 |
175 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347561589 rs1401781769 |
176 | I>T | No |
ClinGen gnomAD |
|
|
rs772260974 CA1748233 |
179 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA347561549 rs1461170134 |
180 | K>I | No |
ClinGen gnomAD |
|
|
rs369338187 CA1748232 |
184 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1748214 rs575628360 |
188 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490456003 CA347561482 |
189 | A>T | No |
ClinGen gnomAD |
|
|
CA51376334 rs1054578818 |
191 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1748212 rs368537238 |
193 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1260846036 CA347561448 |
194 | I>M | No |
ClinGen gnomAD |
|
|
CA347561453 rs1157854857 |
194 | I>V | No |
ClinGen TOPMed |
|
|
CA1748211 rs763251457 |
197 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775863789 CA51376325 |
197 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775863789 CA1748210 |
197 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345353498 CA347561427 |
198 | P>Q | No |
ClinGen gnomAD |
|
|
CA347561426 rs1345353498 |
198 | P>R | No |
ClinGen gnomAD |
|
|
rs1301660135 CA347561421 |
199 | P>L | No |
ClinGen gnomAD |
|
|
CA347561410 rs1402446185 |
201 | E>K | No |
ClinGen gnomAD |
|
|
CA1748208 rs745988543 |
202 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1748206 rs772018229 |
203 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347561392 rs1379383207 |
204 | A>T | No |
ClinGen gnomAD |
|
|
rs747525562 CA1748205 |
205 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480225369 CA347561383 |
205 | R>H | No |
ClinGen gnomAD |
|
|
CA1748204 rs778669214 |
207 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1748203 rs754783098 |
209 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA347561359 rs748873623 |
209 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1748202 rs748873623 |
209 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1748201 rs779714239 |
212 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51376314 rs779714239 |
212 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347561339 rs1290508771 |
212 | Q>P | No |
ClinGen TOPMed |
|
|
CA347561330 rs1347933422 |
213 | E>G | No |
ClinGen gnomAD |
|
|
rs1251236111 CA347561334 |
213 | E>K | No |
ClinGen gnomAD |
|
|
CA347561301 rs1264460416 |
217 | I>T | No |
ClinGen gnomAD |
|
|
rs1331139480 CA347561039 |
220 | L>V | No |
ClinGen gnomAD |
|
|
rs1001118744 CA51375047 |
222 | K>E | No |
ClinGen gnomAD |
|
|
CA347561006 rs1167079961 |
223 | S>T | No |
ClinGen gnomAD |
|
|
rs1387041785 CA347560979 |
225 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347560989 rs1474406880 |
225 | E>K | No |
ClinGen gnomAD |
|
|
rs770979254 CA1748184 |
226 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184072788 CA347560977 |
226 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1184072788 CA347560973 |
226 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs375746081 CA1748182 |
227 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375746081 CA1748183 |
227 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369782661 CA1748181 |
228 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556796647 CA1748180 |
231 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347560895 rs1194471801 |
231 | T>I | No |
ClinGen gnomAD |
|
|
rs1287066816 CA347560892 |
232 | A>P | No |
ClinGen TOPMed |
|
|
CA1748179 rs779760544 |
233 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA347560879 rs755759336 |
233 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755759336 CA1748178 |
233 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745573536 CA1748177 |
234 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs780740050 CA1748176 |
235 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347560837 rs1335361219 |
238 | A>T | No |
ClinGen gnomAD |
|
|
rs537862920 CA51374995 |
239 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1748175 rs537862920 |
239 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1748174 rs752041548 |
241 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1237469159 CA347560772 |
243 | N>D | No |
ClinGen TOPMed |
|
|
rs1367141245 CA347560765 |
243 | N>S | No |
ClinGen gnomAD |
|
|
rs1164135366 CA347560754 |
244 | A>S | No |
ClinGen gnomAD |
|
|
CA1748173 rs778452014 |
245 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336174176 CA347560726 |
247 | Q>* | No |
ClinGen TOPMed |
|
|
CA1748171 rs753083534 |
248 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372811833 CA1748170 |
250 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 251 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367664790 CA347560654 |
253 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367664790 CA1748169 |
253 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1490944919 CA347560650 |
254 | N>D | No |
ClinGen gnomAD |
|
|
rs1466809154 CA347560645 |
254 | N>S | No |
ClinGen TOPMed |
|
|
CA347560631 rs1180135875 |
255 | I>M | No |
ClinGen TOPMed |
|
|
rs754023686 CA1748168 |
255 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1748167 rs766416015 |
258 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774225262 CA347560597 |
259 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748165 rs774225262 |
259 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768560449 CA1748164 |
260 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748163 rs762916360 |
261 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347560564 rs1392394495 |
262 | N>D | No |
ClinGen TOPMed |
|
|
CA1748162 rs775349741 |
262 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347559998 COSM3695629 rs1290565238 |
266 | A>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1036966306 CA51373280 |
268 | E>K | No |
ClinGen gnomAD |
|
|
rs202077254 CA1748147 |
269 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760938067 CA1748148 |
269 | K>T | No |
ClinGen ExAC |
|
|
rs1470772471 CA347559916 |
270 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 275 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51373265 rs555759519 |
275 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347559821 rs1398462230 |
276 | T>I | No |
ClinGen TOPMed |
|
|
CA347559802 rs762863288 |
277 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762863288 CA1748145 |
277 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA347559795 rs1187687137 |
278 | E>K | No |
ClinGen gnomAD |
|
|
CA1748141 rs769560602 |
280 | A>P | No |
ClinGen ExAC |
|
|
CA347559751 rs1246317663 |
280 | A>V | No |
ClinGen gnomAD |
|
|
CA347559682 rs1461787955 |
284 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1748139 rs200201554 |
284 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272478377 CA347559636 |
287 | A>V | No |
ClinGen TOPMed |
|
|
rs749577124 CA51373247 |
288 | V>A | No |
ClinGen Ensembl |
|
|
rs749577124 CA347559620 |
288 | V>G | No |
ClinGen Ensembl |
|
|
CA347559601 rs1310286162 |
290 | E>Q | No |
ClinGen gnomAD |
|
|
CA1748137 rs746728366 |
291 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1380310560 CA347559561 |
292 | A>S | No |
ClinGen Ensembl |
|
|
rs748625907 CA1748134 |
293 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748625907 CA347559550 |
293 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748132 rs35233009 VAR_051068 |
294 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1018745496 CA51373231 |
296 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347559473 rs1356705232 |
298 | A>P | No |
ClinGen gnomAD |
|
|
CA347559462 rs1428485359 |
299 | K>E | No |
ClinGen gnomAD |
|
|
CA1748129 rs183706942 |
299 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756483046 CA1748111 |
300 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1748109 rs781420521 |
302 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748110 rs781420521 |
302 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347558809 rs1333061317 |
308 | V>G | No |
ClinGen TOPMed |
|
|
rs764271293 CA1748106 |
309 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1482610533 CA347558807 |
309 | I>V | No |
ClinGen gnomAD |
|
|
CA347558781 rs1224706726 |
312 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1748104 rs753843163 |
313 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347558729 rs1471443988 |
320 | A>S | No |
ClinGen gnomAD |
|
|
CA51372068 rs983421832 |
321 | K>R | No |
ClinGen Ensembl |
|
|
CA1748103 rs766213485 |
322 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1307266942 CA347558692 |
326 | A>T | No |
ClinGen gnomAD |
|
|
CA347558686 rs1390456375 |
327 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305314783 CA347558668 |
329 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1305314783 CA347558669 |
329 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs950711552 CA51372046 |
330 | K>E | No |
ClinGen Ensembl |
|
|
rs772951789 CA1748101 |
330 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA51372040 rs755265526 |
330 | K>T | No |
ClinGen Ensembl |
|
|
rs748711912 CA51372019 |
334 | M>V | No |
ClinGen TOPMed |
|
|
CA347558605 rs1455427815 |
339 | D>N | No |
ClinGen gnomAD |
|
|
CA347558588 rs1364392444 |
341 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347558576 rs1471727293 |
343 | K>E | No |
ClinGen gnomAD |
|
|
CA347558577 rs1471727293 |
343 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347558547 rs1251528642 |
345 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1251528642 CA347558549 |
345 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347558533 rs1293085709 |
347 | A>E | No |
ClinGen gnomAD |
|
|
CA1748073 rs776973993 |
347 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748072 rs771341841 |
348 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347558518 rs1354263277 |
349 | Q>H | No |
ClinGen gnomAD |
|
|
rs1467623527 CA347558522 |
349 | Q>R | No |
ClinGen TOPMed |
|
|
CA347558483 rs1281490028 |
354 | V>A | No |
ClinGen gnomAD |
|
|
CA347558485 rs1573896672 |
354 | V>F | No |
ClinGen Ensembl |
|
|
rs778087708 CA1748070 |
359 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771997227 CA1748069 |
363 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748068 rs748220546 |
363 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324073338 CA347558412 |
365 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347558407 rs372244183 |
366 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA51371709 rs372244183 |
366 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373860527 CA1748066 |
366 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750446376 CA1748065 |
368 | D>E | No |
ClinGen ExAC |
|
|
CA347558380 rs1470295477 |
370 | K>T | No |
ClinGen gnomAD |
|
|
rs780790507 CA1748064 |
371 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1180508486 CA347558374 |
371 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347558371 rs1490928661 |
372 | E>Q | No |
ClinGen gnomAD |
|
|
rs1270248635 CA347558362 |
373 | L>V | No |
ClinGen gnomAD |
|
|
CA347558358 rs1221389062 |
374 | D>N | No |
ClinGen gnomAD |
|
|
rs1450005426 CA347558349 |
375 | S>G | No |
ClinGen gnomAD |
|
|
CA347558320 rs1268687215 |
377 | T>S | No |
ClinGen gnomAD |
|
|
rs751129055 CA1748062 |
380 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278074198 CA347558252 |
382 | P>L | No |
ClinGen TOPMed |
|
|
rs1328718681 CA347558258 |
382 | P>S | No |
ClinGen gnomAD |
|
|
rs1286643239 CA347558244 |
383 | G>E | No |
ClinGen gnomAD |
|
|
rs1347099473 CA347558227 |
384 | W>L | No |
ClinGen gnomAD |
|
|
CA1748060 rs762642097 |
386 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762642097 CA347558196 |
386 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467497882 CA347558191 |
387 | M>V | No |
ClinGen TOPMed |
|
|
rs200913754 CA1748037 |
388 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347557389 rs1259956889 |
389 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 390 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777468703 CA1748036 |
391 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 393 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246262297 CA347557364 |
393 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1018890181 CA51367696 |
395 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 396 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247568621 CA347556998 |
396 | L>P | No |
ClinGen gnomAD |
|
|
rs775476960 CA1748022 |
397 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA347556990 rs1213984193 |
398 | T>A | No |
ClinGen TOPMed |
|
|
CA347556951 rs1466938707 |
403 | S>F | No |
ClinGen TOPMed |
|
|
CA347556943 rs538458262 |
405 | I>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA347556940 rs1409556468 |
405 | I>T | No |
ClinGen gnomAD |
|
|
CA51367665 rs538458262 |
405 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs765530957 CA51367657 |
406 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1748019 rs777608365 |
409 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758195377 COSM1023460 CA1748018 |
410 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1748017 rs747760924 |
410 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570939564 CA1748016 |
411 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs753362535 CA1748014 |
412 | I>T | No |
ClinGen ExAC |
|
|
rs369549767 CA1748013 |
413 | D>G | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 413 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552871329 CA1748009 |
418 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1748012 rs756633355 |
418 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1748011 rs750909989 |
418 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA347556842 rs1211500231 |
421 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527974000 CA1748007 |
422 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 423 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392563943 CA347556812 |
425 | T>I | No |
ClinGen TOPMed |
|
|
CA1748005 rs775633808 |
426 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1330737800 CA347556803 |
427 | K>E | No |
ClinGen gnomAD |
|
|
CA347556801 rs1288533313 |
427 | K>R | No |
ClinGen gnomAD |
|
|
CA347556772 rs1230959623 |
431 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs149077923 CA51367463 |
431 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs773166230 CA1748002 |
433 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61731709 RCV000974434 COSM1193143 CA1748001 |
435 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747916681 CA1748000 |
438 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1455373133 CA347556718 |
439 | L>V | No |
ClinGen gnomAD |
|
|
rs778720213 CA1747999 |
440 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768354546 CA347556691 |
443 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747997 rs548215739 |
443 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768354546 CA1747998 |
443 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779561410 CA1747996 |
444 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51367404 rs934390970 |
446 | D>H | No |
ClinGen Ensembl |
|
|
CA51367401 rs373034490 |
448 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347556662 rs373034490 |
448 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1486003957 CA347556658 |
448 | A>V | No |
ClinGen TOPMed |
|
|
CA347556644 rs1200985132 |
451 | K>E | No |
ClinGen gnomAD |
|
|
CA347556639 rs1433681616 |
451 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 452 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200929570 CA51367394 |
452 | A>V | No |
ClinGen 1000Genomes |
|
|
CA347556617 rs1207573845 |
455 | H>Y | No |
ClinGen gnomAD |
|
|
rs1207706844 CA347556564 |
461 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51367369 rs985647470 |
462 | A>S | No |
ClinGen TOPMed |
|
|
rs1327594106 CA347556558 COSM1532664 |
463 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA51367332 rs954206457 |
464 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751937232 CA1747991 |
467 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1747976 rs375285152 |
468 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1747975 rs372257547 |
470 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757834121 CA1747973 |
474 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757834121 CA347556216 |
474 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51364872 rs778224694 |
476 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747971 rs778224694 |
476 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347556205 rs1558809803 |
476 | E>K | No |
ClinGen Ensembl |
|
|
CA347556194 rs1447076867 |
477 | N>Y | No |
ClinGen gnomAD |
|
|
CA347556145 rs1238859130 |
480 | R>K | No |
ClinGen gnomAD |
|
|
rs752917023 CA1747969 |
484 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181749429 CA1747968 |
484 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1481985567 CA347556089 |
485 | R>* | No |
ClinGen TOPMed |
|
|
rs753911092 CA347556084 |
485 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747966 rs753911092 |
485 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274502308 CA347556069 |
486 | Q>H | No |
ClinGen gnomAD |
|
|
CA1747965 rs766507207 |
490 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261966038 CA347556014 |
491 | T>A | No |
ClinGen TOPMed |
|
|
CA347555993 rs1427500859 |
492 | D>G | No |
ClinGen TOPMed |
|
|
rs761684106 CA1747964 |
493 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762675690 CA1747961 |
495 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762675690 CA347555954 |
495 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747960 rs202043185 |
495 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1747958 CA347555936 rs745578802 |
496 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1307273848 CA347555944 |
496 | D>H | No |
ClinGen gnomAD |
|
|
CA347555911 rs1415330843 |
499 | R>G | No |
ClinGen gnomAD |
|
|
CA1747957 rs776266830 |
499 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA347555894 rs1573873682 |
500 | V>G | No |
ClinGen Ensembl |
|
|
CA347555893 rs1573873666 |
501 | Q>K | No |
ClinGen Ensembl |
|
|
rs1367129454 CA347555890 |
501 | Q>R | No |
ClinGen gnomAD |
|
|
CA51364809 rs199816736 |
503 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs747451990 COSM722993 CA347555839 |
504 | E>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs375971231 CA1747953 |
505 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200238227 CA1747952 |
506 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347555783 rs1384376467 |
508 | E>D | No |
ClinGen TOPMed |
|
|
rs1230970647 CA347555774 |
509 | F>S | No |
ClinGen gnomAD |
|
|
CA1747951 rs779402628 |
511 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA347555498 rs1358380090 |
512 | N>I | No |
ClinGen TOPMed |
|
|
rs201463639 CA51363674 |
515 | E>G | No |
ClinGen 1000Genomes |
|
|
rs941860808 CA51363669 |
516 | K>E | No |
ClinGen TOPMed |
|
|
rs1049834846 CA51363656 |
516 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1747928 rs756374553 |
520 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201987512 CA1747926 |
521 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758251509 CA347555430 |
523 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558808165 CA347555425 |
523 | Q>H | No |
ClinGen Ensembl |
|
|
CA1747925 rs758251509 |
523 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347555421 rs1411221502 |
524 | F>L | No |
ClinGen gnomAD |
|
|
CA1747924 rs752692441 |
524 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51363612 COSM281918 rs114088948 |
525 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed |
|
rs368283488 CA1747923 |
525 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1747922 rs560315070 |
526 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753491797 CA1747921 |
526 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747920 rs766100087 |
532 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1450348258 CA347555369 |
532 | V>L | No |
ClinGen TOPMed |
|
|
CA347555353 rs1432320363 |
534 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347555329 rs1378913994 |
538 | D>H | No |
ClinGen gnomAD |
|
|
CA1747918 rs375926531 |
541 | T>S | No |
ClinGen ESP ExAC |
|
|
CA1747917 rs771628141 |
543 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1279252982 CA347555287 |
544 | A>S | No |
ClinGen gnomAD |
|
|
rs1050348309 CA51363559 |
544 | A>V | No |
ClinGen TOPMed |
|
|
rs371394842 CA1747916 |
545 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1299134929 CA347555282 |
545 | R>I | No |
ClinGen gnomAD |
|
|
CA1747915 rs774956433 |
545 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA347555261 rs1364037594 |
548 | G>V | No |
ClinGen gnomAD |
|
|
CA347555256 rs1286697241 |
549 | I>T | No |
ClinGen gnomAD |
|
|
COSM261419 rs755867536 CA51363528 |
550 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA347555240 rs367650891 |
551 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334152724 CA347555238 |
552 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1747912 rs529938667 |
554 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347555202 rs1480058019 |
555 | S>I | No |
ClinGen gnomAD |
|
|
rs1223370775 CA347555188 |
557 | A>V | No |
ClinGen gnomAD |
|
|
CA347555165 rs1241985908 |
561 | E>K | No |
ClinGen TOPMed |
|
|
rs770153422 CA1747892 |
564 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772794621 CA1747891 |
567 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 570 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1020540842 CA51362424 |
573 | V>A | No |
ClinGen TOPMed |
|
|
rs369676899 CA1747890 |
573 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203329674 CA347555077 |
574 | E>K | No |
ClinGen TOPMed |
|
|
CA347555065 rs1558806816 |
575 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 576 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1010071373 CA51362410 |
577 | K>E | No |
ClinGen TOPMed |
|
|
CA347555022 rs1162971250 |
580 | M>T | No |
ClinGen gnomAD |
|
|
CA347554997 rs1459739782 |
582 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 584 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754955066 CA1747886 |
586 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1747885 rs749253220 |
588 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1747884 rs779931281 |
589 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372854470 CA1747883 |
589 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1747882 rs370626609 |
591 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272158814 CA347554864 |
593 | G>R | No |
ClinGen gnomAD |
|
|
CA1747881 rs767180611 |
594 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1747879 rs751060761 |
595 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM197574 CA1747878 rs763650033 |
595 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759967436 CA1747874 |
600 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1324203964 CA347554767 |
600 | K>R | No |
ClinGen gnomAD |
|
|
rs373430585 CA347554752 |
601 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373430585 CA1747873 |
601 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1747872 rs771180473 |
603 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 603 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752473406 CA1747871 |
604 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747870 rs773369469 |
605 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 606 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347554635 rs370171179 |
611 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1747867 rs370171179 |
611 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1747866 rs756058869 |
611 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347554629 rs1558806564 |
612 | L>* | No |
ClinGen Ensembl |
|
|
rs372974996 CA51362285 |
614 | A>E | No |
ClinGen ESP |
|
|
RCV000918788 rs200278699 CA1747864 COSM1243318 |
614 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1747861 rs200315961 |
616 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1747858 rs765752378 |
623 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747857 rs376714187 COSM1210636 |
623 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1573866956 CA347554556 |
624 | G>E | No |
ClinGen Ensembl |
|
|
CA51362252 CA347554552 rs971145374 |
625 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs971145374 CA347554553 |
625 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1230653294 CA347554547 |
626 | Y>H | No |
ClinGen gnomAD |
|
|
rs372081629 CA347554517 |
629 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573866921 CA347554513 |
630 | T>N | No |
ClinGen Ensembl |
|
|
rs1320073684 CA347554503 |
632 | R>G | No |
ClinGen gnomAD |
|
|
rs1381448415 CA347554501 |
632 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1747855 rs766667070 |
633 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51362237 rs766667070 |
633 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347554492 rs773602497 |
634 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773602497 CA1747853 |
634 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772231642 CA1747852 |
634 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA347554493 rs773602497 |
634 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450725487 CA347554482 |
635 | F>L | No |
ClinGen gnomAD |
|
|
rs748220624 CA1747851 |
636 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769761980 CA1747849 |
637 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1747848 rs745847328 |
639 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027315318 CA51362213 |
641 | L>M | No |
ClinGen gnomAD |
|
|
CA347554445 rs1201570174 |
641 | L>R | No |
ClinGen gnomAD |
|
|
rs780979464 CA1747847 |
643 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs780979464 CA347554438 |
643 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA347554436 rs1278755798 COSM722994 |
643 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347554432 rs1558806329 |
644 | R>K | No |
ClinGen Ensembl |
|
|
rs1487818950 CA347554424 |
645 | V>A | No |
ClinGen Ensembl |
|
|
CA1747845 rs746623096 |
645 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777424029 CA1747844 |
646 | A>V | No |
ClinGen ExAC |
|
|
CA1747843 rs758095105 |
647 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752171403 CA1747842 |
648 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs377150889 CA1747841 |
649 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs559198417 CA1747840 |
650 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA347554386 rs754307559 |
651 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747839 rs754307559 |
651 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51362158 rs1803745 |
652 | R>I | No |
ClinGen Ensembl |
|
|
rs751220994 CA51362156 |
653 | N>Y | No |
ClinGen gnomAD |
|
|
rs932895081 CA51362139 |
654 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347554358 rs1320171959 |
655 | L>F | No |
ClinGen TOPMed |
|
|
rs1209965082 CA347554353 |
656 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1251014735 CA347554349 |
657 | Q>E | No |
ClinGen TOPMed |
|
|
CA347554345 rs1310921140 |
657 | Q>R | No |
ClinGen gnomAD |
|
|
rs372702837 CA1747838 |
658 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1747837 rs761146013 |
659 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA347554317 rs1258658368 |
661 | S>C | No |
ClinGen TOPMed |
|
|
rs750869569 CA1747836 |
662 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs750869569 CA347554312 |
662 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1747835 rs762196511 |
664 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747834 rs762196511 |
664 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747833 rs534349351 |
665 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs201007479 CA51362070 |
669 | F>Y | No |
ClinGen 1000Genomes |
|
|
rs759448905 CA1747831 |
672 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 673 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 674 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272353700 CA347554234 |
675 | K>M | No |
ClinGen gnomAD |
|
|
COSM1532665 rs777584652 CA1747827 |
676 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746782628 CA1747828 |
676 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1053796803 CA51362019 |
681 | C>R | No |
ClinGen Ensembl |
|
|
CA1747824 rs778420627 |
683 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1747823 rs754479475 |
684 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs780406193 CA1747822 |
685 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs780406193 CA1747821 |
685 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756728880 CA1747820 |
688 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461311760 CA347554128 |
691 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 693 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416132756 CA347554117 |
693 | Y>C | No |
ClinGen gnomAD |
|
|
CA51361975 rs949569021 |
697 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs751732579 CA347554085 |
698 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1747815 rs201492183 |
698 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751732579 CA1747816 |
698 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762962592 CA1747814 |
699 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453330097 CA347554080 |
699 | E>K | No |
ClinGen gnomAD |
|
|
CA347554079 rs1453330097 |
699 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347554076 rs762962592 |
699 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347554069 rs770823699 |
700 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA347554070 rs770823699 |
700 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1747812 rs770823699 |
700 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs535904150 CA1747810 |
702 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535904150 CA1747809 |
702 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1747808 rs747799315 |
704 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA347554045 rs747799315 |
704 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1747806 rs568826395 |
708 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568826395 CA347554022 |
708 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1747805 rs200212976 |
709 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA51361947 rs1024391785 |
710 | V>A | No |
ClinGen TOPMed |
|
|
CA51361941 rs749966188 |
711 | N>H | No |
ClinGen Ensembl |
|
|
rs756679628 CA1747803 |
711 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747800 rs757725417 |
716 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757725417 CA347553953 |
716 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764198090 CA1747798 |
718 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1369239267 CA347553910 |
719 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752714248 CA1747797 |
719 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752714248 CA1747796 |
719 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765358502 CA1747795 |
720 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA347553902 rs765358502 |
720 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1747793 rs773165856 |
722 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs773165856 CA347553501 |
722 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs767253052 CA1747792 |
723 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs920227118 CA51361832 |
723 | D>Y | No |
ClinGen Ensembl |
|
|
CA347553480 rs1192827464 |
725 | L>R | No |
ClinGen gnomAD |
|
|
rs1249993044 CA347553469 |
727 | E>K | No |
ClinGen gnomAD |
|
|
CA347553458 rs1221992494 |
728 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1747790 rs774245699 |
729 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1747789 rs768193439 COSM1023454 |
729 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1747788 rs200512625 |
730 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347553424 rs1322055997 |
734 | T>A | No |
ClinGen gnomAD |
|
|
CA347553420 rs1432009138 |
734 | T>M | No |
ClinGen gnomAD |
|
|
CA51361788 rs961907901 |
735 | K>R | No |
ClinGen Ensembl |
|
|
CA347553407 rs781769634 |
736 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746334035 CA1747785 |
736 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347553409 rs1416624422 |
736 | Q>R | No |
ClinGen gnomAD |
|
|
rs201764625 CA1747783 |
737 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1173115735 CA347553401 |
737 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 738 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211975559 CA347553376 |
739 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1392261215 CA347553382 |
739 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1357581502 CA347553343 |
742 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 743 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1747779 rs758536015 |
747 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1747776 rs183939253 |
748 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1747777 rs183939253 |
748 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347553235 rs1214771418 |
750 | I>M | No |
ClinGen gnomAD |
|
|
rs767414578 CA1747774 |
750 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765770591 CA51361756 |
750 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347553227 rs1573865939 |
751 | G>E | No |
ClinGen Ensembl |
|
|
rs1448016491 CA347553209 |
753 | T>S | No |
ClinGen TOPMed |
|
|
rs774007561 CA1747772 |
757 | P>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q16891
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| MIB complex | A mitochondrial intermembrane space bridging complex consisting of components of the MICOS complex in the inner mitochondrial membrane, the SAM complex in the outer membrane, a conserved DNAJ protein (human DNAJC11) and Metaxin 1. |
| MICOS complex | Mitochondrial inner membrane complex involved in maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. In Saccharomyces cerevisiae the complex has six subunits: MIC10, MIC12, MIC19, MIC26, MIC27, and MIC60. |
| mitochondrial crista junction | A tubular structure of relatively uniform size that connects a mitochondrial crista to the mitochondrial inner boundary membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| SAM complex | A large complex of the mitochondrial outer membrane that mediates sorting of some imported proteins to the outer membrane and their assembly in the membrane; functions after import of incoming proteins by the mitochondrial outer membrane translocase complex. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cristae formation | The assembly of cristae, the inwards folds of the inner mitochondrial membrane. |
| inner mitochondrial membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the mitochondrial inner membrane. |
| mitochondrial calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. |
| neuron cellular homeostasis | The cellular homeostatic process that preserves a neuron in a stable, differentiated functional and structural state. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRACQLSGV | TAAAQSCLCG | KFVLRPLRPC | RRYSTSGSSG | LTTGKIAGAG | LLFVGGGIGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TILYAKWDSH | FRESVEKTIP | YSDKLFEMVL | GPAAYNVPLP | KKSIQSGPLK | ISSVSEVMKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKQPASQLQK | QKGDTPASAT | APTEAAQIIS | AAGDTLSVPA | PAVQPEESLK | TDHPEIGEGK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PTPALSEEAS | SSSIRERPPE | EVAARLAQQE | KQEQVKIESL | AKSLEDALRQ | TASVTLQAIA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AQNAAVQAVN | AHSNILKAAM | DNSEIAGEKK | SAQWRTVEGA | LKERRKAVDE | AADALLKAKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELEKMKSVIE | NAKKKEVAGA | KPHITAAEGK | LHNMIVDLDN | VVKKVQAAQS | EAKVVSQYHE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVVQARDDFK | RELDSITPEV | LPGWKGMSVS | DLADKLSTDD | LNSLIAHAHR | RIDQLNRELA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQKATEKQHI | TLALEKQKLE | EKRAFDSAVA | KALEHHRSEI | QAEQDRKIEE | VRDAMENEMR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TQLRRQAAAH | TDHLRDVLRV | QEQELKSEFE | QNLSEKLSEQ | ELQFRRLSQE | QVDNFTLDIN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TAYARLRGIE | QAVQSHAVAE | EEARKAHQLW | LSVEALKYSM | KTSSAETPTI | PLGSAVEAIK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ANCSDNEFTQ | ALTAAIPPES | LTRGVYSEET | LRARFYAVQK | LARRVAMIDE | TRNSLYQYFL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SYLQSLLLFP | PQQLKPPPEL | CPEDINTFKL | LSYASYCIEH | GDLELAAKFV | NQLKGESRRV |
| 730 | 740 | 750 | |||
| AQDWLKEARM | TLETKQIVEI | LTAYASAVGI | GTTQVQPE |