Q86XI2
PR
Gene name |
NCAPG2 (LUZP5) |
Protein name |
Condensin-2 complex subunit G2 |
Names |
Chromosome-associated protein G2, CAP-G2, hCAP-G2, Leucine zipper protein 5, Non-SMC condensin II complex subunit G2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54892 |
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 Q86XI2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86XI2-F1 | Predicted | AlphaFoldDB |
782 variants for Q86XI2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4592826 rs764675544 RCV001332183 |
503 | I>V | Khan-Khan-Katsanis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000782269 rs1299537743 VAR_083028 CA370178111 |
609 | K>E | Khan-Khan-Katsanis syndrome 3KS; leads to defects in mitotic chromosome compaction and organization; increases the number of micronuclei; increases cell death [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs772209292 RCV000782270 VAR_083029 CA4592643 |
693 | T>M | Khan-Khan-Katsanis syndrome 3KS; leads to defects in mitotic chromosome compaction and organization; increases the number of micronuclei; increases cell death [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000782271 VAR_083030 CA370194921 rs1563515856 |
850 | T>P | Khan-Khan-Katsanis syndrome 3KS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002515504 RCV000202960 CA249158 rs199598836 |
1029 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4593241 rs538725335 |
2 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771017297 CA4593240 |
3 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4593239 rs746908102 |
4 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170029179 rs905679565 |
4 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA170029177 rs905679565 |
4 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866512294 CA170029164 |
6 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs370269151 CA370193828 |
6 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370269151 CA4593237 |
6 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758370777 CA170029160 |
8 | V>I | No |
ClinGen Ensembl |
|
|
rs77960215 CA4593235 |
9 | Q>K | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1026854602 CA170029159 |
10 | A>G | No |
ClinGen Ensembl |
|
|
rs1207555973 CA370193799 |
11 | V>M | No |
ClinGen gnomAD |
|
|
CA370193788 rs1443843404 |
12 | S>F | No |
ClinGen gnomAD |
|
|
rs749391123 CA4593233 |
13 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4593232 rs201943203 |
15 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372589678 CA4593231 |
16 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373127312 CA370193734 |
21 | Q>* | No |
ClinGen gnomAD |
|
|
CA370193717 rs1282551283 |
23 | V>I | No |
ClinGen gnomAD |
|
|
CA4593229 rs767897272 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA370192520 rs1462429755 |
28 | E>Q | No |
ClinGen gnomAD |
|
|
rs745931373 CA4593212 |
28 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370192506 rs1462512408 |
30 | S>A | No |
ClinGen gnomAD |
|
|
CA370192478 rs1278727468 |
34 | S>C | No |
ClinGen TOPMed |
|
|
rs1471436773 CA370192463 |
36 | N>S | No |
ClinGen gnomAD |
|
|
CA170019042 rs548918153 |
37 | E>D | No |
ClinGen 1000Genomes |
|
|
CA4593208 rs778245477 |
37 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1042380225 CA170019041 |
38 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 39 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4593206 rs753598177 |
43 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4593205 rs115095115 RCV000888733 |
44 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1465217791 CA370192385 |
44 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267639098 CA370192340 |
48 | E>A | No |
ClinGen gnomAD |
|
|
CA4593204 rs760233085 |
48 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4593203 rs190535010 |
49 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370192304 rs1307978530 |
51 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547669473 CA4593200 |
55 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs372204255 CA4593199 |
59 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4593197 rs187542564 |
61 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762723847 CA4593198 |
61 | V>M | No |
ClinGen ExAC |
|
|
CA370192123 rs1161608427 |
63 | L>S | No |
ClinGen TOPMed |
|
|
CA370192081 rs1394551533 |
66 | P>A | No |
ClinGen gnomAD |
|
|
CA4593196 rs375951732 |
69 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370192011 rs1365113788 |
72 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA170018911 rs920923099 |
80 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1196024335 CA370191952 |
80 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370191946 rs1169882761 |
81 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4593191 rs778406650 |
82 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs61763006 CA4593189 |
84 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA170018897 rs919687920 |
85 | H>D | No |
ClinGen TOPMed |
|
|
CA4593188 rs779863666 |
85 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs755670064 CA4593187 |
86 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4593168 rs773856116 |
92 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs578028573 CA370191811 |
93 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs578028573 CA4593167 |
93 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 94 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443216643 CA370191793 |
94 | E>G | No |
ClinGen TOPMed |
|
|
CA370191761 rs1212675907 |
97 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1212675907 CA370191763 |
97 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4593166 rs748543466 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370191714 rs1169830781 |
102 | V>M | No |
ClinGen TOPMed |
|
|
CA4593164 rs755335968 |
103 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745555315 CA4593163 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780885008 CA4593162 |
106 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4593161 rs756784481 |
108 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4593160 rs751004722 |
109 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4593159 rs374453769 |
110 | I>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1373707908 CA370191614 |
112 | E>A | No |
ClinGen gnomAD |
|
|
rs1464020442 CA370191618 |
112 | E>Q | No |
ClinGen gnomAD |
|
|
rs1428612511 CA370191602 |
113 | S>T | No |
ClinGen TOPMed |
|
|
rs1187016694 CA370191567 |
116 | Y>H | No |
ClinGen gnomAD |
|
|
rs1188950044 CA370191549 |
117 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA370191556 rs1259806448 |
117 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4593157 rs557893013 |
118 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370191537 rs557893013 |
118 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557893013 CA370191535 |
118 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370191527 rs1338525911 |
120 | L>V | No |
ClinGen TOPMed |
|
|
CA4593156 rs764984847 |
121 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs537648529 CA4593155 |
122 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4593154 rs575271109 |
122 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370191476 rs1341536359 |
124 | I>M | No |
ClinGen TOPMed |
|
|
rs747420967 CA170018612 |
124 | I>T | No |
ClinGen Ensembl |
|
|
rs1251820653 CA370191483 |
124 | I>V | No |
ClinGen gnomAD |
|
|
rs886942151 CA170018610 |
125 | I>T | No |
ClinGen Ensembl |
|
| rs766552957 | 127 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439356360 CA370191117 |
128 | G>D | No |
ClinGen gnomAD |
|
|
CA370191049 rs1373230640 |
131 | Y>C | No |
ClinGen TOPMed |
|
|
rs1474892020 CA370190995 |
134 | P>R | No |
ClinGen TOPMed |
|
|
rs1331986042 CA370190907 |
138 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773534838 CA4593134 |
138 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4593133 rs773534838 |
138 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170017205 rs576910804 |
141 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA4593131 rs368263725 |
144 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563096258 CA4593130 |
145 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1336748278 CA370190758 |
149 | V>I | No |
ClinGen gnomAD |
|
|
CA4593129 rs769141247 |
150 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769141247 CA370190747 |
150 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396764601 CA370190736 |
151 | W>S | No |
ClinGen gnomAD |
|
|
rs775876823 CA4593127 |
155 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1042287887 CA170017166 |
163 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 166 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 166 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4593124 rs777384954 |
169 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771632836 CA4593123 |
177 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4593095 rs61752311 |
182 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756038904 CA4593096 |
182 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs757506380 CA4593093 |
183 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182323648 CA370189859 |
185 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199947218 CA4593091 |
185 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4593092 rs182323648 |
185 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA170016744 rs979915783 |
186 | L>F | No |
ClinGen Ensembl |
|
|
CA4593090 rs762921650 |
188 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4593089 rs371198970 |
188 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA170016704 rs769255201 |
191 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370189751 rs1475462904 |
192 | A>P | No |
ClinGen gnomAD |
|
|
CA370189728 rs1486840276 |
194 | Y>N | No |
ClinGen gnomAD |
|
|
CA4593085 rs767183980 |
195 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370189669 rs1173382675 |
198 | Y>D | No |
ClinGen TOPMed |
|
|
rs761563823 CA370189658 |
199 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 199 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761563823 CA4593084 |
199 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370189643 rs1306334663 |
200 | L>V | No |
ClinGen gnomAD |
|
|
CA170016677 rs1020946371 |
201 | E>G | No |
ClinGen Ensembl |
|
|
rs773850389 CA4593083 |
202 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 208 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563573714 CA370189504 |
209 | M>I | No |
ClinGen Ensembl |
|
|
rs1291629837 CA370189507 |
209 | M>T | No |
ClinGen gnomAD |
|
|
CA370189514 rs1563573729 |
209 | M>V | No |
ClinGen Ensembl |
|
|
CA4593081 rs748741413 |
211 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775571563 CA4593080 |
215 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA370189302 rs1313321825 |
219 | Y>C | No |
ClinGen gnomAD |
|
|
rs1283653423 CA370189290 |
220 | I>V | No |
ClinGen TOPMed |
|
|
rs928482830 CA170016648 |
221 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 222 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369598032 CA4593077 |
223 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183619108 CA370188798 |
227 | R>G | No |
ClinGen gnomAD |
|
|
rs377609723 CA170014921 |
228 | F>L | No |
ClinGen TOPMed |
|
|
rs1468473808 CA370188785 |
229 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251216043 CA370188775 |
230 | S>T | No |
ClinGen gnomAD |
|
|
CA4593056 rs770771384 |
231 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370188768 rs770771384 |
231 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4593055 rs746711818 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs778120288 CA370188750 |
234 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778120288 CA4593054 |
234 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4593053 rs748272470 |
234 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4593052 rs748272470 |
234 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170014891 rs994984383 |
235 | W>R | No |
ClinGen TOPMed |
|
|
CA370188738 rs1370072547 |
236 | N>H | No |
ClinGen gnomAD |
|
|
CA170014883 rs368842415 |
237 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 237 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442408532 CA370188725 |
237 | I>M | No |
ClinGen gnomAD |
|
|
rs776024497 CA4593051 |
238 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776024497 CA170014866 |
238 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587276430 CA370188716 |
239 | F>V | No |
ClinGen Ensembl |
|
|
rs755005082 CA4593050 |
240 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs754359509 CA370188705 |
240 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375487308 CA170014833 |
241 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs182996819 CA4593047 |
242 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4593048 rs766807525 |
242 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4593045 rs763857080 |
245 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370188675 rs1299397260 |
245 | G>R | No |
ClinGen TOPMed |
|
|
rs1587276264 CA370188660 |
247 | I>M | No |
ClinGen Ensembl |
|
|
CA4593044 rs762482027 |
247 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA170014813 rs192183487 |
247 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4593043 rs752356248 |
252 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4593042 rs764861123 |
253 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370188607 rs1261533408 |
255 | Q>* | No |
ClinGen gnomAD |
|
|
CA370188581 rs1224542502 |
257 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760565283 CA4593021 |
260 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773155502 CA4593020 |
262 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA370188540 rs1441097050 |
263 | A>T | No |
ClinGen TOPMed |
|
|
rs771780543 CA4593019 |
263 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1353934764 CA370188535 |
264 | E>K | No |
ClinGen gnomAD |
|
|
rs138977477 CA4593018 |
265 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370188525 rs1415788130 |
265 | I>N | No |
ClinGen gnomAD |
|
|
CA170013705 rs975276673 |
265 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4593017 rs774624839 |
267 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1166684458 CA370188513 |
267 | F>L | No |
ClinGen gnomAD |
|
|
CA4593016 rs531802225 |
271 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749419832 CA4593015 |
272 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1255130933 CA370188419 |
277 | I>V | No |
ClinGen gnomAD |
|
|
CA4592994 rs769776585 |
280 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745892700 CA4592993 |
284 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210103372 CA370187266 |
287 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA170011250 rs985547852 |
291 | F>C | No |
ClinGen Ensembl |
|
|
rs552091385 CA4592991 |
292 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747423439 CA4592990 |
293 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979400228 CA170011223 |
294 | I>V | No |
ClinGen Ensembl |
|
|
CA4592989 rs778247482 |
295 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391272314 CA370187054 |
295 | H>Y | No |
ClinGen TOPMed |
|
|
CA370186965 rs1396826395 |
297 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370186968 rs1396826395 |
297 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370186884 rs1449854150 |
300 | S>C | No |
ClinGen TOPMed |
|
|
CA170011182 rs908861546 |
303 | H>R | No |
ClinGen TOPMed |
|
|
rs748910689 CA4592987 |
303 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370186764 rs1156519541 |
304 | S>A | No |
ClinGen gnomAD |
|
|
rs532191809 CA170011176 |
305 | K>Q | No |
ClinGen 1000Genomes |
|
|
rs779692746 CA4592986 |
306 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200693006 CA4592984 |
307 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4592985 rs755649409 |
307 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757156707 CA4592982 |
308 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592983 rs767492635 |
308 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1422692900 CA370185709 |
311 | S>N | No |
ClinGen TOPMed |
|
|
CA370185710 rs1350596123 |
311 | S>R | No |
ClinGen gnomAD |
|
|
rs1214009955 CA370185674 |
314 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4592966 rs754556370 |
315 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170009418 rs1023673666 |
317 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 317 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573649736 CA4592965 |
318 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4592963 rs756707913 |
320 | R>Q | Variant assessed as Somatic; 0.0002789 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201348020 CA4592964 |
320 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563561516 CA370185594 |
324 | E>A | No |
ClinGen Ensembl |
|
|
CA4592962 rs182403876 |
325 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370185577 rs1205170873 |
326 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs571154337 CA4592959 |
328 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4592958 rs765423607 |
331 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766111904 CA4592957 |
334 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA170009331 rs890349807 |
335 | L>R | No |
ClinGen Ensembl |
|
|
CA370185481 rs1477980435 |
340 | K>R | No |
ClinGen gnomAD |
|
|
rs116585170 CA4592929 |
341 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370185437 rs1171728697 |
345 | E>A | No |
ClinGen gnomAD |
|
|
rs776333004 CA4592927 |
345 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA370185425 rs1465445654 |
347 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4592925 rs746569980 |
347 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4592924 rs777231520 |
348 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420916758 CA370185341 |
360 | I>V | No |
ClinGen TOPMed |
|
|
rs1323449759 CA370185329 |
361 | R>S | No |
ClinGen gnomAD |
|
|
rs771439304 CA4592923 |
363 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771439304 CA370185316 |
363 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370185307 rs1378007153 |
364 | N>K | No |
ClinGen gnomAD |
|
|
CA4592922 rs748135341 |
365 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4592921 rs778653033 |
367 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4592919 rs749084114 |
368 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778426674 CA170008582 |
370 | M>I | No |
ClinGen Ensembl |
|
|
rs1179853572 CA370185273 |
370 | M>V | No |
ClinGen gnomAD |
|
|
rs1303187953 CA370185262 |
371 | D>G | No |
ClinGen TOPMed |
|
|
CA370185237 rs1453841118 |
374 | I>T | No |
ClinGen gnomAD |
|
|
rs1477667411 CA370185233 |
375 | Q>* | No |
ClinGen Ensembl |
|
|
CA370185209 rs1251275735 |
378 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4592918 rs780475474 |
379 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1182437070 CA370185192 |
380 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370185188 rs756375034 |
380 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370185195 rs1260371915 |
380 | E>K | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA170008548 rs1044019428 |
382 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 382 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370184217 rs780027426 |
387 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA170005291 rs991920458 |
387 | D>V | No |
ClinGen Ensembl |
|
|
CA370184206 rs1305139746 |
388 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs61752309 RCV000973139 CA4592898 |
389 | Y>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1168582133 CA370184148 |
390 | P>L | No |
ClinGen gnomAD |
|
|
CA370184071 rs781206063 |
393 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 393 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4592897 rs781206063 |
393 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170005273 rs990458116 |
395 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1256971297 CA370184005 |
397 | I>N | No |
ClinGen TOPMed |
|
|
rs757423825 CA370183998 |
398 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757423825 CA4592896 |
398 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485235173 CA370183984 |
399 | G>D | No |
ClinGen gnomAD |
|
|
rs751577531 CA4592895 |
400 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370183954 rs1483279841 |
401 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1250331406 CA370183924 |
403 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370183906 rs1216412672 |
406 | K>E | No |
ClinGen gnomAD |
|
|
rs1319484000 CA370183870 |
408 | W>R | No |
ClinGen gnomAD |
|
|
rs753159086 CA4592892 |
413 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772987752 CA4592889 |
415 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs980574142 CA170005243 |
416 | L>V | No |
ClinGen gnomAD |
|
|
CA170005235 rs199976141 |
417 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs1451334374 CA370183698 |
419 | L>R | No |
ClinGen TOPMed |
|
|
rs1467260468 CA370183683 |
421 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4592888 rs368844202 |
421 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370183665 rs1164520937 |
422 | K>R | No |
ClinGen gnomAD |
|
|
CA370183652 rs1366551174 |
423 | V>M | No |
ClinGen gnomAD |
|
|
CA4592885 rs768243343 |
431 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370183544 rs768243343 |
431 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258264247 CA370183497 |
435 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1212733500 CA370183472 |
437 | R>C | No |
ClinGen gnomAD |
|
|
rs769716377 CA4592882 |
437 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4592881 rs745645080 |
438 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA370183460 rs745645080 |
438 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA170002190 rs980387961 |
443 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762488450 CA4592865 |
446 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775636808 CA170002138 |
448 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775636808 CA4592864 |
448 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434411807 CA370182518 |
453 | S>T | No |
ClinGen gnomAD |
|
|
CA4592863 rs769839148 |
454 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1359714395 CA370182421 |
458 | E>Q | No |
ClinGen gnomAD |
|
|
rs1055978578 CA170002108 |
459 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA370182379 rs1484590751 |
460 | L>V | No |
ClinGen TOPMed |
|
|
rs770718414 CA4592860 |
463 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs61752019 CA4592859 |
464 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777910047 CA4592858 |
465 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA170002079 rs60866057 |
465 | R>K | No |
ClinGen Ensembl |
|
|
rs909521812 CA170002065 |
470 | D>N | No |
ClinGen gnomAD |
|
|
CA4592856 rs748217254 |
471 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs199662183 CA4592855 |
472 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200303020 CA4592853 |
473 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280261918 CA370182022 |
476 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 477 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217503700 CA370181991 |
478 | A>T | No |
ClinGen gnomAD |
|
|
rs1347264246 CA370181977 |
478 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4592851 rs756443243 |
481 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4592852 rs780306135 |
481 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592850 rs751178252 |
484 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA370181859 rs1210842281 |
485 | K>R | No |
ClinGen gnomAD |
|
|
CA370181822 rs1296042465 |
486 | I>M | No |
ClinGen gnomAD |
|
|
rs1401631233 CA370181807 |
487 | K>T | No |
ClinGen gnomAD |
|
|
rs61197775 CA4592849 |
490 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592848 rs375679806 |
491 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 493 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 495 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370180160 rs1474020188 |
495 | W>L | No |
ClinGen gnomAD |
|
|
rs1055461436 CA169995051 |
497 | I>L | No |
ClinGen Ensembl |
|
|
CA169995043 rs1005257502 |
497 | I>T | No |
ClinGen Ensembl |
|
|
rs1055461436 CA169995049 |
497 | I>V | No |
ClinGen Ensembl |
|
|
CA4592827 rs752357922 |
499 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456525967 CA370180086 |
501 | E>D | No |
ClinGen gnomAD |
|
|
rs1178044458 CA370180097 |
501 | E>K | No |
ClinGen gnomAD |
|
|
rs1318321127 CA370180030 |
506 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4592824 rs753719449 |
506 | R>H | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA169995020 rs1049350444 |
508 | E>V | No |
ClinGen Ensembl |
|
|
CA370179991 rs1226406659 |
510 | D>N | No |
ClinGen gnomAD |
|
|
rs766332670 CA4592823 |
511 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4592822 rs760438733 |
512 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4592821 rs772963478 |
512 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370179947 rs1332932256 |
513 | P>L | No |
ClinGen gnomAD |
|
|
rs767263632 CA4592820 |
513 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA370179939 rs1343265535 |
514 | V>A | No |
ClinGen TOPMed |
|
|
CA4592818 rs774500092 |
516 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592819 rs141746850 |
516 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768622809 CA4592817 |
517 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA370179910 rs749383760 |
517 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749383760 CA4592816 |
517 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370179916 rs768622809 |
517 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA169994935 rs944757317 |
519 | V>L | No |
ClinGen Ensembl |
|
|
rs746272700 CA4592813 |
520 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948935108 CA169994927 |
521 | L>F | No |
ClinGen TOPMed |
|
|
CA370179857 rs1245185946 |
522 | I>V | No |
ClinGen gnomAD |
|
|
CA370179824 rs1223467018 |
524 | N>S | No |
ClinGen TOPMed |
|
|
rs778557411 CA4592810 |
526 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754510151 CA4592808 |
529 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 530 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350873171 CA370179744 |
531 | Q>* | No |
ClinGen gnomAD |
|
|
CA169994866 rs929433302 |
531 | Q>H | No |
ClinGen TOPMed |
|
|
rs374235532 CA4592806 |
532 | P>L | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs753372736 CA4592807 |
532 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 533 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1587166383 CA370179719 |
533 | E>Q | No |
ClinGen Ensembl |
|
|
rs1253299116 CA370179667 |
536 | W>* | No |
ClinGen TOPMed |
|
|
rs1470172240 CA370179646 |
537 | C>F | No |
ClinGen TOPMed |
|
|
rs767316783 CA4592803 |
538 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767316783 CA4592804 |
538 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1418337253 CA370179620 |
539 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1382694766 CA370179618 |
539 | R>H | No |
ClinGen gnomAD |
|
|
rs1159386981 CA370179596 |
541 | V>I | No |
ClinGen gnomAD |
|
|
rs1358615972 CA370179547 |
544 | V>L | No |
ClinGen gnomAD |
|
|
CA4592801 rs761530613 |
546 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405337032 CA370179479 |
548 | H>Y | No |
ClinGen TOPMed |
|
|
CA169994835 rs966051610 |
549 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370179466 rs1487302820 |
550 | A>T | No |
ClinGen gnomAD |
|
|
CA4592797 rs775607210 |
553 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563532175 CA370179422 |
554 | F>L | No |
ClinGen Ensembl |
|
|
rs986034189 CA169994802 |
555 | Y>C | No |
ClinGen TOPMed |
|
|
CA370179379 rs1311063672 |
557 | Y>H | No |
ClinGen gnomAD |
|
|
rs1024111169 CA169994792 |
558 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777220236 CA4592794 |
560 | E>* | No |
ClinGen ExAC gnomAD |
|
|
COSM3832430 CA370179330 rs777220236 |
560 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771423896 CA4592793 |
562 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592792 rs747370128 |
562 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768329859 CA370179262 |
563 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4592790 rs768329859 |
563 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368484584 CA370179238 |
564 | C>* | No |
ClinGen gnomAD |
|
|
CA4592789 rs535262233 |
564 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA169994769 rs1034128473 |
564 | C>Y | No |
ClinGen gnomAD |
|
|
CA4592788 rs755566765 |
565 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4592787 rs755566765 |
565 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA370179065 rs1320456312 |
572 | H>Y | No |
ClinGen gnomAD |
|
|
CA4592763 rs758069657 |
573 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592762 rs373939140 |
575 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs944775455 CA169994452 |
575 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA370178986 rs910613990 |
577 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA169994450 rs910613990 |
577 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 579 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370178952 rs1376192733 |
580 | A>V | No |
ClinGen gnomAD |
|
|
rs755163383 CA4592760 |
581 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767030905 CA4592758 |
583 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs767030905 CA4592759 |
583 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761269441 CA4592757 |
584 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA370178888 rs1587163913 |
586 | V>L | No |
ClinGen Ensembl |
|
|
CA169994420 rs1019176269 |
589 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773537661 CA4592756 |
590 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773537661 CA169994416 |
590 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA370178816 rs1231288091 |
592 | D>N | No |
ClinGen Ensembl |
|
|
rs376297815 CA4592754 |
593 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4592750 rs776148170 |
594 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs745424455 CA4592752 |
594 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745424455 CA4592751 |
594 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA169994355 rs915165195 |
595 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4592746 rs746978951 |
598 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777505338 CA4592745 |
599 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370178698 rs777505338 |
599 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116730695 RCV000888732 CA4592744 |
600 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370178659 rs1307257728 |
601 | K>N | No |
ClinGen gnomAD |
|
|
CA169994337 rs182340669 |
601 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1293871558 CA370178645 |
602 | E>G | No |
ClinGen TOPMed |
|
|
rs1041716577 CA169994336 |
602 | E>Q | No |
ClinGen gnomAD |
|
|
rs1490478857 CA370178633 |
603 | N>D | No |
ClinGen TOPMed |
|
|
CA4592743 rs747878363 |
603 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323104147 CA370178606 |
604 | V>E | No |
ClinGen gnomAD |
|
|
CA370178596 rs1386036862 |
605 | T>A | No |
ClinGen gnomAD |
|
|
CA4592724 CA370178113 rs375070259 |
608 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370178115 rs1334094475 |
608 | D>G | No |
ClinGen TOPMed |
|
|
rs754764148 CA4592723 |
610 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs967876697 CA169992867 |
610 | T>I | No |
ClinGen Ensembl |
|
|
rs61740623 CA4592722 RCV000963897 |
614 | N>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4592720 rs368695018 |
614 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755516454 CA169992813 |
615 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4592719 rs754373161 |
616 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370178065 rs1261692180 |
617 | A>T | No |
ClinGen gnomAD |
|
|
rs781743300 CA4592718 |
621 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 624 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764454132 CA4592715 |
625 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181703454 CA370178004 |
626 | I>V | No |
ClinGen gnomAD |
|
|
rs1339546833 CA370177969 |
631 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563528402 CA370177958 |
632 | S>T | No |
ClinGen Ensembl |
|
|
CA370177918 rs1587154965 |
637 | M>I | No |
ClinGen Ensembl |
|
|
rs766717886 CA169992735 |
639 | N>S | No |
ClinGen gnomAD |
|
|
CA370177896 rs1326950338 |
640 | N>H | No |
ClinGen gnomAD |
|
|
CA370177882 rs1483445214 |
641 | K>Q | No |
ClinGen gnomAD |
|
|
rs1049498877 CA169992729 |
641 | K>R | No |
ClinGen TOPMed |
|
|
rs1332995613 CA370177858 |
642 | E>G | No |
ClinGen gnomAD |
|
|
rs1407894429 CA370177840 |
643 | A>V | No |
ClinGen gnomAD |
|
|
CA370177804 rs1176652855 |
646 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4592711 rs760277966 |
647 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4592709 rs771568576 |
649 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA370177740 rs761857281 |
650 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370177748 rs1237394699 |
650 | K>R | No |
ClinGen gnomAD |
|
|
CA4592707 rs61746693 |
652 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264017451 CA370177668 |
656 | P>S | No |
ClinGen gnomAD |
|
|
rs1317076648 CA370177652 |
657 | E>A | No |
ClinGen gnomAD |
|
|
rs1402996802 CA370177635 |
658 | Y>C | No |
ClinGen TOPMed |
|
|
CA370196192 rs747078281 |
664 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592681 rs747078281 |
664 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592680 rs374249671 |
666 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370196176 rs374249671 |
666 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370630902 CA4592679 |
666 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370630902 CA4592677 |
666 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370630902 CA4592678 |
666 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA170025518 rs909272328 |
667 | C>F | No |
ClinGen TOPMed |
|
|
rs984762877 CA170025512 |
668 | K>E | No |
ClinGen TOPMed |
|
|
CA370196160 rs1349606080 |
669 | I>V | No |
ClinGen gnomAD |
|
|
CA370196147 rs1322155664 |
671 | L>V | No |
ClinGen gnomAD |
|
|
CA4592675 rs750112074 |
672 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750112074 CA4592676 |
672 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370196137 rs1309020502 |
672 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 672 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA170025495 rs750112074 |
672 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350247201 CA370196135 |
673 | M>V | No |
ClinGen TOPMed |
|
|
rs368005986 CA170025490 |
675 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA370196121 rs1158177993 |
675 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 678 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370196086 rs1437873758 |
679 | P>L | No |
ClinGen gnomAD |
|
|
rs1177947080 CA370196068 |
682 | A>V | No |
ClinGen gnomAD |
|
|
rs1288455948 CA370196064 |
683 | V>D | No |
ClinGen TOPMed |
|
|
CA4592670 rs763009511 |
684 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA370196052 rs1292378389 |
685 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370196051 rs1292378389 |
685 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370196054 rs1490835477 |
685 | P>S | No |
ClinGen gnomAD |
|
|
rs1563522348 CA370196040 |
687 | S>C | No |
ClinGen Ensembl |
|
|
rs776456175 CA4592647 |
688 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4592646 rs374355085 |
688 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA170024176 rs906453702 |
690 | V>M | No |
ClinGen TOPMed |
|
|
CA4592645 rs760908964 |
691 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs773362907 CA4592644 |
693 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429654547 CA370195981 |
695 | R>T | No |
ClinGen gnomAD |
|
|
CA370195976 rs1192666302 |
696 | S>G | No |
ClinGen gnomAD |
|
|
rs780591786 CA4592638 |
697 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780591786 CA4592639 |
697 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592640 rs61752310 |
697 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370195962 rs1482622301 |
698 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA170024140 rs199918297 |
698 | E>K | No |
ClinGen Ensembl |
|
|
CA370195952 rs1240909089 |
700 | G>S | No |
ClinGen gnomAD |
|
|
rs199999635 CA4592636 |
701 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746359731 CA4592635 |
701 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1225678799 CA370195938 |
702 | V>A | No |
ClinGen gnomAD |
|
|
rs1563519483 CA370195942 |
702 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 703 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4592634 rs115631698 |
705 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370195897 rs1376994996 |
708 | T>A | No |
ClinGen gnomAD |
|
|
CA4592633 rs369427891 |
709 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370195845 rs1453744532 |
715 | S>F | No |
ClinGen gnomAD |
|
|
rs1587131227 CA370195814 |
719 | V>G | No |
ClinGen Ensembl |
|
|
CA370195791 rs1171002226 |
723 | L>V | No |
ClinGen gnomAD |
|
|
CA370195778 rs1328619978 |
725 | L>V | No |
ClinGen TOPMed |
|
|
rs1382780169 CA370195772 |
726 | V>L | No |
ClinGen gnomAD |
|
|
rs760394084 CA4592628 |
728 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs912184329 CA170024078 |
731 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1587131028 CA370195732 |
732 | T>P | No |
ClinGen Ensembl |
|
|
CA4592627 rs750704447 |
733 | E>K | No |
ClinGen ExAC |
|
|
rs369048133 CA4592626 |
738 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA170023906 rs540333595 |
739 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4592605 rs762940042 |
741 | T>I | No |
ClinGen ExAC |
|
|
rs1424767003 CA370195653 |
742 | A>T | No |
ClinGen gnomAD |
|
|
rs754686043 CA170023883 |
745 | G>D | No |
ClinGen TOPMed |
|
|
rs1383538034 CA370195621 |
747 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 748 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000202760 rs199564693 CA248948 |
750 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4592603 rs61745702 |
753 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370195576 rs1202185010 |
753 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA370195578 rs1202185010 |
753 | R>L | No |
ClinGen TOPMed |
|
|
rs61745702 CA370195580 |
753 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4592601 rs771151274 |
754 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4592600 rs747848765 |
757 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1430560620 CA370195530 |
760 | A>V | No |
ClinGen TOPMed |
|
|
CA4592599 rs773807400 |
761 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592598 rs768276973 |
763 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs995265100 CA170023849 |
764 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA170023852 rs1043232107 |
764 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA170023847 rs947549255 |
766 | Y>C | No |
ClinGen Ensembl |
|
|
CA4592594 rs745757103 |
769 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 769 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370195460 rs1343354641 |
772 | K>E | No |
ClinGen gnomAD |
|
|
rs200489867 CA4592593 |
772 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370195455 rs1587129758 |
772 | K>N | No |
ClinGen Ensembl |
|
|
CA4592592 rs367772207 |
774 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4592591 rs191457466 |
774 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370195444 rs191457466 |
774 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370195442 rs1385261211 |
775 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758596111 CA4592589 |
776 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs765364216 CA4592587 |
779 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370195410 rs765364216 |
779 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592586 rs371403261 |
780 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4592585 rs776945753 |
781 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA170023815 rs932234613 |
781 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4592583 rs760942319 |
782 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4592584 rs201255175 |
782 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370195391 rs1255759993 |
783 | K>N | No |
ClinGen gnomAD |
|
|
rs980113106 CA170023781 |
786 | N>K | No |
ClinGen Ensembl |
|
|
rs1201939155 CA370195371 |
786 | N>S | No |
ClinGen gnomAD |
|
|
rs774103332 CA4592582 |
787 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA170023772 rs922145405 |
793 | E>A | No |
ClinGen TOPMed |
|
|
rs1297500865 CA370195323 |
793 | E>D | No |
ClinGen gnomAD |
|
|
VAR_053046 rs10248318 RCV000892584 CA4592581 |
794 | T>M | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765978317 CA170023763 |
796 | K>Q | No |
ClinGen Ensembl |
|
|
CA4592549 rs561720977 |
797 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 798 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780143466 CA4592547 |
802 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202181190 CA4592544 |
806 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592545 rs750885086 |
806 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587124676 CA370195222 |
808 | G>E | No |
ClinGen Ensembl |
|
|
CA4592540 rs759123128 |
810 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs369184720 CA4592539 |
811 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770422053 CA4592538 |
811 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770422053 CA370195204 |
811 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 814 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773215783 CA4592536 |
817 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4592535 rs772059642 |
818 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548544931 CA4592532 |
819 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548544931 CA370195154 |
819 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4592533 rs779326431 |
819 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4592530 rs780011897 |
820 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs559590994 CA4592529 |
820 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA170022979 rs865811109 |
824 | L>F | No |
ClinGen Ensembl |
|
|
CA370195120 rs1268117954 |
825 | H>R | No |
ClinGen gnomAD |
|
|
rs1161582786 CA370195122 |
825 | H>Y | No |
ClinGen TOPMed |
|
|
CA370195106 rs1197119824 |
827 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4592527 rs774264384 |
827 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774264384 CA370195104 |
827 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039547108 CA170022968 |
829 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370195074 rs1454919751 |
832 | L>F | No |
ClinGen TOPMed |
|
|
CA4592509 rs545827026 |
836 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781695848 CA4592508 |
838 | S>L | No |
ClinGen ExAC TOPMed |
|
|
rs1261726484 CA370195008 |
839 | E>D | No |
ClinGen gnomAD |
|
|
CA370194999 rs1563515990 |
841 | K>E | No |
ClinGen Ensembl |
|
|
CA4592506 rs200412458 |
842 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370194986 rs1295439684 |
843 | Y>H | No |
ClinGen gnomAD |
|
|
CA370194968 rs368236063 |
845 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368236063 CA4592505 |
845 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1563515908 CA370194962 |
846 | M>I | No |
ClinGen Ensembl |
|
|
rs765361135 CA170022851 |
846 | M>V | No |
ClinGen Ensembl |
|
|
rs758719164 CA4592504 |
849 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1218716221 CA370194884 |
852 | F>L | No |
ClinGen TOPMed |
|
|
CA170022833 rs1021655851 |
853 | W>* | No |
ClinGen TOPMed |
|
|
CA370194825 rs1315744819 |
854 | L>F | No |
ClinGen TOPMed |
|
|
CA170022829 rs981765248 |
855 | E>D | No |
ClinGen gnomAD |
|
|
CA4592503 rs753500985 |
856 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA370194711 rs1334499369 |
860 | S>C | Variant assessed as Somatic; 9.287e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1587122833 CA370194676 |
862 | I>T | No |
ClinGen Ensembl |
|
|
CA4592502 rs200377757 |
862 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA170022819 rs1023144612 |
866 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4592501 VAR_053047 rs3214000 |
867 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370194585 rs1378158011 |
867 | E>K | No |
ClinGen gnomAD |
|
|
CA370194563 rs1198454165 |
868 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 869 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188629278 CA370194544 |
869 | Y>N | No |
ClinGen gnomAD |
|
|
rs749921045 CA4592499 |
870 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4592498 rs767088290 |
873 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs774364803 CA370194445 |
874 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4592496 rs774364803 |
874 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251252345 CA370194436 |
875 | V>I | No |
ClinGen gnomAD |
|
|
rs1563515606 CA370194411 |
876 | I>T | No |
ClinGen Ensembl |
|
|
rs1435173483 CA370194392 |
877 | Y>C | No |
ClinGen TOPMed |
|
|
CA4592494 rs191331780 |
882 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1037367483 CA170022508 |
884 | Y>F | No |
ClinGen TOPMed |
|
|
CA370194280 rs1294223719 |
887 | V>A | No |
ClinGen gnomAD |
|
|
rs748523530 CA4592485 |
887 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA370194283 rs748523530 |
887 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA370194260 rs1477316491 |
890 | D>N | No |
ClinGen TOPMed |
|
|
CA4592483 rs755814572 |
892 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs750039564 CA4592482 |
893 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170022496 rs750039564 |
893 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170022500 rs941591521 |
893 | M>V | No |
ClinGen Ensembl |
|
|
rs368572793 CA4592480 |
895 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370194170 rs1423462767 |
898 | D>A | No |
ClinGen gnomAD |
|
|
rs751608441 CA4592479 |
898 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs200062794 CA170022486 |
899 | H>R | No |
ClinGen Ensembl |
|
|
rs1587120401 CA370194092 |
903 | M>T | No |
ClinGen Ensembl |
|
|
CA4592477 rs762700421 |
904 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201698466 CA4592473 |
907 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201698466 CA4592474 |
907 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1587120302 CA370194035 |
907 | Q>R | No |
ClinGen Ensembl |
|
|
CA4592471 rs186888334 |
908 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4592472 rs771062657 |
908 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 913 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA170022450 rs976798975 |
913 | M>L | No |
ClinGen TOPMed |
|
|
CA170022453 rs976798975 |
913 | M>V | No |
ClinGen TOPMed |
|
|
CA170022448 rs964159092 |
915 | T>A | No |
ClinGen Ensembl |
|
|
rs1563511321 CA370193274 |
919 | F>L | No |
ClinGen Ensembl |
|
|
rs769201953 CA370193227 |
922 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592448 rs769201953 |
922 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749651397 CA4592447 |
923 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs749651397 CA370193212 |
923 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs967726166 CA170021468 |
927 | D>H | No |
ClinGen TOPMed |
|
|
CA370193160 rs770743307 |
928 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4592445 rs770743307 |
928 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4592446 rs375838469 |
928 | I>V | No |
ClinGen ESP ExAC |
|
|
rs548680625 CA4592444 |
931 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 937 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757775352 CA4592442 |
938 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs777345751 CA4592443 |
938 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 939 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566969254 CA4592441 |
939 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370193034 rs1398626902 |
939 | Q>R | No |
ClinGen gnomAD |
|
|
CA4592440 rs778806033 |
940 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1475127154 CA370192904 |
948 | A>G | No |
ClinGen gnomAD |
|
|
CA370192906 rs1587110527 |
948 | A>S | No |
ClinGen Ensembl |
|
|
rs1011847414 CA170021447 |
949 | M>T | No |
ClinGen TOPMed |
|
|
rs754815915 CA4592439 |
949 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000885333 rs80143472 CA4592438 |
952 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370192827 rs1310082103 |
955 | Q>R | No |
ClinGen TOPMed |
|
|
rs1327981352 CA370192816 |
956 | K>E | No |
ClinGen TOPMed |
|
|
CA4592436 rs756381491 |
956 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592437 rs756381491 |
956 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750545182 CA4592435 |
957 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 963 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966922672 CA170021434 CA370192711 |
963 | E>D | No |
ClinGen TOPMed |
|
|
rs1459774548 CA370192721 |
963 | E>Q | No |
ClinGen gnomAD |
|
|
CA4592434 rs767703903 |
964 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4592431 rs527840789 |
967 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4592432 rs377006246 |
967 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs763516421 CA4592430 |
972 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4592428 rs770230137 |
977 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA370192580 rs1450934117 |
977 | L>V | No |
ClinGen gnomAD |
|
|
CA370192570 rs201551364 |
978 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4592426 rs201551364 |
978 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746675602 CA370192575 |
978 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768095971 CA4592404 |
980 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA170020623 rs932071200 |
986 | P>L | No |
ClinGen Ensembl |
|
|
CA4592403 rs749291547 |
986 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592402 rs779953341 |
988 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779953341 CA370191744 |
988 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592401 rs769681178 |
990 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs745620571 CA4592400 |
990 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1301419129 CA370191686 |
991 | I>T | No |
ClinGen gnomAD |
|
|
rs201837228 CA170020600 |
992 | T>A | No |
ClinGen 1000Genomes |
|
|
rs192863706 CA4592399 |
993 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1230807358 CA370191635 |
995 | Q>P | No |
ClinGen TOPMed |
|
|
rs751778174 CA4592397 |
997 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4592398 rs200860676 |
997 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4592396 rs778009205 |
998 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4592395 rs758543722 |
1000 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA370191529 rs1161083245 |
1001 | T>N | No |
ClinGen gnomAD |
|
|
CA370191512 rs1188981165 |
1003 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1004 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4592393 rs765636505 |
1005 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370191480 rs1489146237 |
1005 | R>W | No |
ClinGen gnomAD |
|
|
rs754184868 CA4592391 |
1006 | G>D | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759981958 CA4592392 |
1006 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA370191451 rs754184868 |
1006 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1007 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4592390 rs551364656 |
1008 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4592389 rs761468641 |
1012 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4592386 rs762430227 |
1013 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768214427 CA370191328 |
1013 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768214427 CA4592387 |
1013 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592383 rs769653413 |
1024 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs373650801 CA4592384 |
1024 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370191029 rs1457537082 |
1025 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763705621 CA4592368 |
1027 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188729182 CA370189810 |
1028 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA170017889 rs1013912228 |
1030 | E>Q | No |
ClinGen Ensembl |
|
|
CA370189745 rs1183938360 |
1031 | E>K | No |
ClinGen gnomAD |
|
|
rs774887543 CA4592367 |
1033 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA170017878 rs918935569 |
1034 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370189682 rs1587082855 |
1035 | P>S | No |
ClinGen Ensembl |
|
|
rs1203135495 CA370189659 |
1037 | H>N | No |
ClinGen gnomAD |
|
|
CA170017876 rs376018453 |
1038 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1275626347 CA370189616 |
1040 | D>Y | No |
ClinGen gnomAD |
|
|
CA370189604 rs1327353896 |
1041 | L>I | No |
ClinGen TOPMed |
|
|
CA370189600 rs1187487061 |
1041 | L>P | No |
ClinGen gnomAD |
|
|
CA370189577 rs1338905765 |
1043 | P>S | No |
ClinGen gnomAD |
|
|
rs1397521296 CA370189546 |
1046 | R>G | No |
ClinGen gnomAD |
|
|
CA4592365 rs759400197 |
1047 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs965689984 CA170017848 |
1051 | I>L | No |
ClinGen TOPMed |
|
|
CA4592364 rs757875779 |
1056 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4592362 rs746775295 |
1057 | N>I | No |
ClinGen ExAC |
|
|
rs370374722 CA4592361 |
1058 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370189044 rs1363651343 |
1064 | D>E | No |
ClinGen gnomAD |
|
|
rs748322319 CA4592337 |
1064 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1067 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206149596 CA370189005 |
1069 | C>R | No |
ClinGen TOPMed |
|
|
rs376857513 CA370188991 |
1071 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4592336 rs376857513 |
1071 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370188980 rs1419943381 |
1073 | N>D | No |
ClinGen TOPMed |
|
|
rs1475470786 CA370188976 |
1073 | N>I | No |
ClinGen TOPMed |
|
|
CA4592333 rs779440134 |
1074 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1317076354 CA370188929 |
1080 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA170017181 rs774410750 |
1082 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370188891 rs1269747227 |
1086 | H>R | No |
ClinGen gnomAD |
|
|
rs1329782378 CA370188868 |
1090 | V>I | No |
ClinGen TOPMed |
|
|
rs1485659832 CA370188851 |
1092 | N>S | No |
ClinGen gnomAD |
|
|
CA370188154 rs1268693571 |
1094 | G>D | No |
ClinGen gnomAD |
|
|
CA4592332 rs756638335 |
1094 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4592319 rs761647414 |
1096 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs761647414 CA370188116 |
1096 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA370188094 rs186267236 |
1097 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4592318 rs186267236 |
1097 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs768955279 CA4592317 |
1098 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA170016408 rs768955279 |
1098 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370188050 rs1587074443 |
1099 | S>* | No |
ClinGen Ensembl |
|
|
rs763038527 CA4592315 |
1101 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs953264390 CA170016367 |
1101 | V>L | No |
ClinGen TOPMed |
|
|
rs775563486 CA4592314 |
1102 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437734698 CA370187944 |
1104 | V>A | No |
ClinGen gnomAD |
|
|
rs1171930525 CA370187935 |
1105 | A>P | No |
ClinGen Ensembl |
|
|
CA170016350 rs267601439 |
1108 | V>A | No |
ClinGen Ensembl |
|
|
CA4592313 rs769801568 |
1108 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413318855 CA370187837 |
1110 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA370187775 rs1179925605 |
1113 | K>R | No |
ClinGen TOPMed |
|
|
rs1259773034 CA370187729 |
1116 | M>T | No |
ClinGen TOPMed |
|
|
rs200891888 CA170016347 |
1118 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs781659208 CA4592311 |
1118 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs200891888 CA4592312 |
1118 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771245105 CA4592310 TCGA novel |
1122 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs777957458 CA370187530 |
1125 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592307 rs754678742 |
1125 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777957458 CA4592308 |
1125 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370183109 rs1429616847 |
1129 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4592287 rs769916057 |
1130 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440487601 CA370183101 |
1130 | Y>H | No |
ClinGen TOPMed |
|
|
rs1230318153 CA370183008 |
1134 | S>L | No |
ClinGen TOPMed |
|
|
CA370183017 rs1273138089 |
1134 | S>T | No |
ClinGen gnomAD |
|
|
CA370182926 rs1350651683 |
1136 | T>I | No |
ClinGen gnomAD |
|
|
rs1587020367 CA370182944 |
1136 | T>P | No |
ClinGen Ensembl |
|
|
rs747428822 CA4592283 |
1138 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs771503339 CA4592284 |
1138 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778216077 CA4592282 |
1139 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778216077 CA370182876 |
1139 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4592281 rs772260914 |
1144 | S>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4592280 rs749017502 |
1144 | S>Y | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q86XI2
[MIM: 618460]: Khan-Khan-Katsanis syndrome (3KS)
An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. {ECO:0000269|PubMed:30609410}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. {ECO:0000269|PubMed:30609410}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q86XI2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q86XI2 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| condensed nuclear chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome. |
| condensin complex | A multisubunit protein complex that plays a central role in chromosome condensation in meiosis and mitosis. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| bHLH transcription factor binding | Binding to a basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways. |
| enzyme activator activity | Binds to and increases the activity of an enzyme. |
| histone deacetylase regulator activity | Binds to and modulates the activity of histone deacetylase. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
| transmembrane receptor protein tyrosine kinase inhibitor activity | Binds to and stops, prevents or reduces the activity of a transmembrane receptor protein tyrosine kinase. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| chromosome condensation | The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. |
| erythrocyte differentiation | The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. |
| inner cell mass cell proliferation | The proliferation of cells in the inner cell mass. |
| mitotic sister chromatid segregation | The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. |
| positive regulation of chromosome segregation | Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. |
| positive regulation of chromosome separation | Any process that activates or increases the frequency, rate or extent of chromosome separation. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6DFV1 | Ncapg2 | Condensin-2 complex subunit G2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKRETFVQA | VSKELVGEFL | QFVQLDKEAS | DPFSLNELLD | ELSRKQKEEL | WQRLKNLLTD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLLESPVDGW | QVVEAQGEDN | METEHGSKMR | KSIEIIYAIT | SVILASVSVI | NESENYEALL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ECVIILNGIL | YALPESERKL | QSSIQDLCVT | WWEKGLPAKE | DTGKTAFVML | LRRSLETKTG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ADVCRLWRIH | QALYCFDYDL | EESGEIKDML | LECFININYI | KKEEGRRFLS | CLFNWNINFI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KMIHGTIKNQ | LQGLQKSLMV | YIAEIYFRAW | KKASGKILEA | IENDCIQDFM | FHGIHLPRRS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVHSKVREVL | SYFHHQKKVR | QGVEEMLYRL | YKPILWRGLK | ARNSEVRSNA | ALLFVEAFPI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RDPNLHAIEM | DSEIQKQFEE | LYSLLEDPYP | MVRSTGILGV | CKITSKYWEM | MPPTILIDLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KKVTGELAFD | TSSADVRCSV | FKCLPMILDN | KLSHPLLEQL | LPALRYSLHD | NSEKVRVAFV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DMLLKIKAVR | AAKFWKICPM | EHILVRLETD | SRPVSRRLVS | LIFNSFLPVN | QPEEVWCERC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VTLVQMNHAA | ARRFYQYAHE | HTACTNIAKL | IHVIRHCLNA | CIQRAVREPP | EDEEEEDGRE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KENVTVLDKT | LSVNDVACMA | GLLEIIVILW | KSIDRSMENN | KEAKLYTINK | FASVLPEYLK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VFKDDRCKIP | LFMLMSFMPA | SAVPPFSCGV | ISTLRSREEG | AVDKSYCTLL | DCLCSWGQVG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HILELVDNWL | PTEHAQAKSN | TASKGRVQIH | DTRPVKPELA | LVYIEYLLTH | PKNRECLLSA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PRKKLNHLLK | ALETSKADLE | SLLQTPGGKP | RGFSEAAAPR | AFGLHCRLSI | HLQHKFCSEG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KVYLSMLEDT | GFWLESKILS | FIQDQEEDYL | KLHRVIYQQI | IQTYLTVCKD | VVMVGLGDHQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FQMQLLQRSL | GIMQTVKGFF | YVSLLLDILK | EITGSSLIQK | TDSDEEVAML | LDTVQKVFQK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| MLECIARSFR | KQPEEGLRLL | YSVQRPLHEF | ITAVQSRHTD | TPVHRGVLST | LIAGPVVEIS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| HQLRKVSDVE | ELTPPEHLSD | LPPFSRCLIG | IIIKSSNVVR | SFLDELKACV | ASNDIEGIVC |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LTAAVHIILV | INAGKHKSSK | VREVAATVHR | KLKTFMEITL | EEDSIERFLY | ESSSRTLGEL |
| LNS |