Q9H0W5
PR
Gene name |
CCDC8 |
Protein name |
Coiled-coil domain-containing protein 8 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83987 |
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
2 structures for Q9H0W5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4LG6 | X-ray | 180 A | B | 494-510 | PDB |
| AF-Q9H0W5-F1 | Predicted | AlphaFoldDB |
577 variants for Q9H0W5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9528791 rs200189331 RCV000886267 RCV001333306 |
15 | R>W | 3M syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000024101 rs1568590155 |
29 | K>* | 3M syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198938 rs1973248576 |
68 | Q>missing | 3M syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001329460 RCV001859260 rs758816408 CA9528742 RCV002546324 |
96 | T>R | 3M syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000024100 rs752254407 |
205 | K>missing | 3M syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1973237748 RCV001329462 |
268 | K>missing | 3M syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199107 rs774464372 |
273 | S>missing | 3M syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549274 RCV001860581 CA9528625 rs145652080 RCV001007938 |
273 | S>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001283853 rs746873023 |
323 | A>missing | 3M syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA309063326 rs559473497 RCV003123533 |
343 | Q>* | 3M syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA9528555 RCV002503010 rs28498765 RCV000962730 |
349 | A>P | 3M syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs555577708 CA9528800 |
3 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9528801 rs777940880 |
3 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755070556 CA309064702 |
4 | I>F | No |
ClinGen TOPMed |
|
|
CA309064700 rs947996134 |
4 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406464469 rs1184808985 |
5 | G>E | No |
ClinGen gnomAD |
|
|
rs1257268859 CA406464472 |
5 | G>R | No |
ClinGen TOPMed |
|
|
CA9528798 rs767870962 |
7 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9528799 rs753011896 |
7 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs535673610 CA9528797 |
8 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9528796 rs752126210 |
9 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs373316616 CA9528793 |
14 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406464394 rs1601464160 |
17 | V>F | No |
ClinGen Ensembl |
|
|
rs749470916 CA309064667 CA406464386 |
18 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9528790 rs776529429 |
18 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA406464376 rs1423582593 |
20 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406464378 rs1161349755 |
20 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746830123 COSM3721169 CA9528788 |
22 | G>D | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9528786 rs771970620 RCV000925176 |
23 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs777842320 CA9528784 |
28 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9528783 rs756260206 |
29 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752946118 CA9528782 |
29 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA309064642 rs756376020 |
30 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756376020 CA9528781 |
30 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766900623 CA9528778 |
31 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766900623 CA406464314 |
31 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764873641 CA9528775 |
38 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9528773 rs376905785 |
39 | E>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA9528774 rs376905785 |
39 | E>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA9528772 rs763695945 |
40 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs760515077 CA9528771 COSM3797280 |
40 | R>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA406464242 rs1451003793 |
42 | T>I | No |
ClinGen gnomAD |
|
|
rs1159077906 CA406464241 COSM712249 |
43 | Q>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs890056477 CA309064610 |
43 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA309064602 rs1011714167 |
44 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406464225 rs1465501248 |
45 | L>Q | No |
ClinGen TOPMed |
|
|
rs867282286 CA309064600 |
47 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1021829944 CA309064599 |
48 | E>A | No |
ClinGen Ensembl |
|
|
CA406464200 rs1246231101 |
49 | G>S | No |
ClinGen TOPMed |
|
|
rs1490271116 CA406464193 |
50 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1490271116 CA406464194 |
50 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374060599 CA309064595 |
51 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs771987460 CA9528769 |
54 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260199323 CA406464163 |
55 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002282400 rs567845896 CA9528767 RCV000897225 |
56 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs769881544 CA9528766 |
57 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1401296248 CA406464144 |
58 | I>N | No |
ClinGen TOPMed |
|
|
rs748272770 CA9528765 |
60 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406464111 rs1345836044 |
62 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1601464043 CA406464108 |
63 | T>P | No |
ClinGen Ensembl |
|
|
rs1380158611 CA406464097 |
64 | P>L | No |
ClinGen gnomAD |
|
|
rs1288972153 CA406464089 |
65 | H>P | No |
ClinGen gnomAD |
|
|
rs1458313997 CA406464081 |
66 | P>S | No |
ClinGen gnomAD |
|
|
rs747344751 CA9528762 |
67 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780289984 CA9528761 |
69 | P>T | No |
ClinGen ExAC |
|
|
rs1322178512 CA406464026 |
70 | P>R | No |
ClinGen TOPMed |
|
|
CA9528759 rs750991405 |
71 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765896439 CA9528758 |
71 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466264744 CA406463991 |
72 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406463983 rs1601464005 |
73 | P>S | No |
ClinGen Ensembl |
|
|
rs376493049 CA9528757 |
74 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376493049 CA406463967 |
74 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9528756 rs753465669 |
76 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA406463935 rs753465669 |
76 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763788893 CA9528755 |
77 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs142995258 CA9528754 |
77 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406463920 rs1224913332 |
78 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1222490696 CA406463901 |
80 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA309064526 rs767244794 |
81 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601463981 CA406463863 |
82 | V>G | No |
ClinGen Ensembl |
|
|
CA406463856 rs1379931215 |
83 | Q>* | No |
ClinGen gnomAD |
|
|
rs759417203 COSM998426 CA9528750 |
84 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1469715894 CA406463817 |
85 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA406463807 rs1403409721 |
86 | V>L | No |
ClinGen gnomAD |
|
|
CA406463784 rs1460746622 |
88 | P>S | No |
ClinGen gnomAD |
|
|
COSM255589 CA9528747 rs748217595 |
89 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770891225 CA9528748 |
89 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747228945 CA9528744 |
90 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9528745 rs768859491 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406463710 rs1191842013 |
95 | G>D | No |
ClinGen TOPMed |
|
|
CA406463716 rs1338432183 |
95 | G>S | No |
ClinGen gnomAD |
|
|
CA406463695 rs758816408 |
96 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406463704 rs1601463942 |
96 | T>P | No |
ClinGen Ensembl |
|
|
CA9528741 rs777197556 |
97 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9528740 rs201941979 |
98 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9528739 CA406463644 rs779558809 |
99 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341619265 CA406463635 |
100 | S>T | No |
ClinGen gnomAD |
|
|
CA9528738 rs375027255 |
101 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9528736 rs763515549 |
102 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs371258494 CA9528737 |
102 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163030674 CA406463571 |
104 | D>E | No |
ClinGen gnomAD |
|
|
rs752313511 CA9528733 |
105 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767246140 CA9528732 |
106 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA406463518 rs1179563376 |
108 | S>N | No |
ClinGen gnomAD |
|
|
rs1437071750 CA406463467 |
110 | F>L | No |
ClinGen gnomAD |
|
|
CA309064431 rs750782695 |
111 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528731 rs750782695 |
111 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751418638 CA9528730 |
112 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA406463444 rs751418638 |
112 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1601463887 CA406463448 |
112 | T>P | No |
ClinGen Ensembl |
|
|
CA309064419 rs1021712321 |
114 | R>K | No |
ClinGen Ensembl |
|
|
rs1385996397 CA406463401 |
114 | R>S | No |
ClinGen TOPMed |
|
|
rs1011784471 CA309064417 |
116 | K>N | No |
ClinGen Ensembl |
|
|
CA406463366 rs1456435987 |
116 | K>R | No |
ClinGen TOPMed |
|
|
rs762887541 CA9528728 |
118 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892022177 CA406463316 |
118 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA309064408 rs892022177 |
118 | R>L | No |
ClinGen gnomAD |
|
|
rs1286533212 CA406463294 COSM712250 |
119 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1335596033 CA406463260 |
120 | G>V | No |
ClinGen gnomAD |
|
|
rs1412008655 CA406463233 |
122 | R>W | No |
ClinGen gnomAD |
|
|
rs775546247 CA9528724 |
124 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406463174 rs1301223212 |
125 | K>R | No |
ClinGen TOPMed |
|
|
CA406463118 rs1601463824 |
127 | V>G | No |
ClinGen Ensembl |
|
|
rs1568589872 CA406463120 |
127 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 128 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436490232 CA406463097 |
128 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406463107 rs1469533608 |
128 | R>S | No |
ClinGen gnomAD |
|
|
CA309064391 rs892588694 |
130 | M>K | No |
ClinGen gnomAD |
|
|
CA406463056 rs892588694 |
130 | M>T | No |
ClinGen gnomAD |
|
|
CA406462946 rs1489770542 |
134 | Y>F | No |
ClinGen gnomAD |
|
|
CA406462915 rs1452891377 |
136 | G>S | No |
ClinGen gnomAD |
|
|
CA9528719 rs749788950 |
139 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1230625007 CA406462751 |
141 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406462746 rs1344020818 |
142 | S>G | No |
ClinGen gnomAD |
|
|
CA406462735 CA406462736 rs1274540340 |
142 | S>R | No |
ClinGen gnomAD |
|
|
CA9528717 rs752289420 |
143 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752289420 CA9528716 |
143 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752289420 CA309064371 |
143 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316349544 CA406462711 |
144 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201017770 CA9528715 |
146 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406462640 rs1389308449 |
148 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479374460 CA406462622 |
149 | D>V | No |
ClinGen gnomAD |
|
|
rs751293478 CA9528713 |
151 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1418125666 CA406462568 |
152 | L>Q | No |
ClinGen TOPMed |
|
|
rs979809264 CA309064356 |
153 | V>D | No |
ClinGen TOPMed |
|
|
rs765261486 CA309064344 |
154 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309064351 rs368877396 |
154 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528710 rs368877396 |
154 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760667609 CA9528708 |
155 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775698842 CA9528707 |
157 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1321911366 CA406462494 |
158 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772362396 CA9528706 |
158 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1278317666 CA406462488 |
159 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs112444119 CA309064332 |
160 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 161 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9528705 rs759843005 |
161 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA309064314 rs371524438 |
162 | K>E | No |
ClinGen Ensembl |
|
|
CA9528704 rs774816482 |
165 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3404408 rs1366022869 CA406462433 |
167 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA406462436 rs1434475422 |
167 | P>S | No |
ClinGen gnomAD |
|
|
CA9528703 rs543865490 |
168 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543865490 CA309064298 |
168 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322541670 CA406462432 |
168 | P>S | No |
ClinGen gnomAD |
|
|
CA9528702 rs749709643 |
169 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1176565066 CA406462424 |
169 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406462420 rs1416950721 |
170 | R>H | No |
ClinGen gnomAD |
|
|
rs1416950721 CA406462419 |
170 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574968989 CA9528701 |
171 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406462409 rs1449603480 |
172 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs770397258 CA406462396 |
174 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs770397258 CA9528700 |
174 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237361317 CA406462392 |
175 | L>R | No |
ClinGen gnomAD |
|
|
rs747594414 CA9528699 |
175 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780689644 CA9528698 |
176 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9528697 rs754589029 |
177 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779732555 CA9528695 |
179 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA309064271 rs201451437 |
179 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9528696 rs201451437 |
179 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406462370 rs201451437 |
179 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9528694 rs758100222 |
180 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA406462352 rs765074705 |
182 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9528692 rs765074705 |
182 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1352527250 CA406462341 |
183 | N>S | No |
ClinGen gnomAD |
|
|
CA309064221 rs867667159 |
185 | G>E | No |
ClinGen Ensembl |
|
|
CA406462325 rs1429962536 |
186 | P>S | No |
ClinGen gnomAD |
|
|
CA406462318 rs1275522768 |
187 | Q>L | No |
ClinGen TOPMed |
|
|
CA9528688 rs759782532 |
191 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766745654 CA9528686 |
192 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9528687 rs774691800 |
192 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9528685 rs763220069 |
193 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA406462282 rs1484476919 |
193 | R>W | No |
ClinGen gnomAD |
|
|
CA9528684 rs374550657 |
195 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9528683 rs770139152 |
196 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA406462212 rs1243875563 |
198 | V>G | No |
ClinGen gnomAD |
|
|
rs748724079 CA9528682 |
198 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9528681 RCV000893838 rs114002462 |
200 | Q>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs943714670 CA309064123 |
201 | V>L | No |
ClinGen Ensembl |
|
|
rs1182033524 CA406462151 |
202 | S>C | No |
ClinGen TOPMed |
|
|
rs1370960755 CA406462124 |
204 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406462070 rs1415526638 |
207 | K>R | No |
ClinGen TOPMed |
|
|
rs779679114 CA9528677 |
208 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9528676 rs758129496 |
209 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1421756324 CA406462051 |
209 | R>W | No |
ClinGen TOPMed |
|
|
rs1601463580 CA406462028 |
210 | V>G | No |
ClinGen Ensembl |
|
|
CA406462038 rs1162363615 |
210 | V>M | No |
ClinGen TOPMed |
|
|
rs757101392 CA9528673 |
212 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778774357 CA9528674 |
212 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309064088 rs953755677 |
213 | W>* | No |
ClinGen TOPMed |
|
|
CA406461937 rs1354264850 |
214 | A>V | No |
ClinGen TOPMed |
|
|
CA406461920 rs1473091544 |
215 | P>L | No |
ClinGen gnomAD |
|
|
rs1473091544 CA406461926 |
215 | P>Q | No |
ClinGen gnomAD |
|
|
rs1181939880 CA406461929 |
215 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753849206 CA406461892 |
217 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA406461897 rs1254323259 |
217 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753849206 CA9528672 |
217 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9528671 rs764174439 |
218 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1568589664 CA406461865 |
219 | P>S | No |
ClinGen Ensembl |
|
|
CA309064069 rs28405177 |
220 | G>R | No |
ClinGen Ensembl |
|
|
CA9528669 rs751753432 |
221 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9528668 rs556609039 |
222 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406461803 rs1352094152 |
222 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406461771 rs1390879223 |
223 | E>K | No |
ClinGen gnomAD |
|
|
CA406461733 rs1369047327 |
224 | A>V | No |
ClinGen gnomAD |
|
|
CA406461723 rs1450940306 |
225 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406461719 rs1450940306 |
225 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773378238 CA9528666 |
227 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1414616528 COSM382106 CA406461632 |
230 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1414616528 CA406461631 |
230 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9528664 rs150947235 |
232 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406461554 rs1434995834 |
233 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777094420 CA9528663 |
233 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769220827 CA9528662 |
233 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746510633 CA9528661 |
234 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1450819957 CA406461496 |
235 | G>E | No |
ClinGen TOPMed |
|
|
rs745566147 CA9528658 |
236 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406461479 rs745566147 |
236 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528659 rs771557962 |
236 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528660 rs771557962 |
236 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528655 rs376925934 |
237 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749133236 CA406461459 |
238 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs749133236 CA9528654 |
238 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1331353409 CA406461452 |
239 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 239 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380034323 CA406461426 |
243 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA406461427 rs1380034323 |
243 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9528652 rs756176646 |
244 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528651 rs751627096 |
244 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9528650 rs758503570 |
245 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758503570 CA406461123 |
245 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528649 rs758503570 |
245 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762164577 CA9528645 |
246 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406461117 rs1171212825 |
246 | G>R | No |
ClinGen gnomAD |
|
|
rs762164577 CA406461109 |
246 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752157966 CA309063910 |
248 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1031921766 CA309063905 |
251 | N>D | No |
ClinGen TOPMed |
|
|
rs1031921766 CA406461057 |
251 | N>H | No |
ClinGen TOPMed |
|
|
CA406461046 rs540591449 |
251 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9528642 rs761174942 |
252 | A>T | Variant assessed as Somatic; 8.106e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs546044871 CA9528641 |
252 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309063897 rs1036867782 |
254 | D>G | No |
ClinGen TOPMed |
|
|
rs1466224448 CA406460995 |
257 | V>G | No |
ClinGen gnomAD |
|
|
CA406460981 rs1345376930 |
258 | P>L | No |
ClinGen gnomAD |
|
|
CA406460987 rs1199679097 |
258 | P>S | No |
ClinGen gnomAD |
|
|
CA406460976 rs771633939 |
259 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771633939 CA9528640 |
259 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528638 rs143467587 |
261 | S>Y | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA9528636 rs774021528 |
262 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs556519938 CA9528637 |
262 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9528635 rs148822867 |
264 | R>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA406460894 rs1436583071 |
265 | W>S | No |
ClinGen gnomAD |
|
|
CA9528634 rs749075111 |
267 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA309063848 rs774700757 |
268 | K>N | No |
ClinGen Ensembl |
|
|
CA9528633 rs777721289 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1200054 rs769783744 CA9528632 |
270 | N>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748124446 CA9528631 |
270 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs769783744 CA406460838 |
270 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9528630 rs781044104 |
271 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA406460836 rs781044104 |
271 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs758477461 CA9528629 |
272 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1013024964 CA9528627 |
272 | A>V | No |
ClinGen Ensembl |
|
|
rs140574202 CA9528622 |
275 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9528621 RCV000906045 rs140574202 |
275 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9528624 rs144500261 |
275 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200156458 CA406460809 |
276 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200156458 CA309063783 |
276 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406460808 rs767950083 |
276 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528619 rs767950083 |
276 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200156458 CA9528620 |
276 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528616 rs370524521 |
277 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9528614 rs897101889 |
277 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9528613 rs897101889 |
277 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9528617 rs370524521 |
277 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA406460804 rs1292821372 |
278 | R>G | No |
ClinGen gnomAD |
|
|
rs369173769 CA309063730 |
278 | R>K | No |
ClinGen ESP |
|
|
rs1283001873 CA406460793 |
279 | K>R | No |
ClinGen gnomAD |
|
|
CA406460775 rs1336592940 |
281 | Q>H | No |
ClinGen gnomAD |
|
|
CA406460777 rs1226941109 |
281 | Q>P | No |
ClinGen gnomAD |
|
|
rs1408337275 CA406460773 |
282 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9528609 rs773097268 |
282 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308799338 CA406460769 |
283 | A>T | No |
ClinGen gnomAD |
|
|
rs1183347116 CA406460759 |
284 | P>L | No |
ClinGen TOPMed |
|
|
rs748000029 CA9528607 |
284 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162628647 CA406460753 |
285 | T>I | No |
ClinGen gnomAD |
|
|
CA406460755 rs1162628647 |
285 | T>K | No |
ClinGen gnomAD |
|
|
COSM70051 rs781188062 CA9528606 |
286 | G>A | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768536868 CA9528604 |
287 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9528599 rs201827579 |
288 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147620109 CA9528601 |
288 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201827579 CA9528600 |
288 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147620109 CA9528602 |
288 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406460735 rs1252173833 COSM394457 |
289 | A>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406460728 rs1449426058 |
290 | D>G | No |
ClinGen gnomAD |
|
|
rs1206837697 CA406460732 |
290 | D>H | No |
ClinGen gnomAD |
|
|
CA309063648 rs747909224 |
291 | I>N | No |
ClinGen Ensembl |
|
|
RCV000970362 CA9528596 rs145184332 |
292 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9528598 rs181007514 |
292 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9528597 rs181007514 |
292 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406460713 rs1467759103 |
293 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9528595 rs768054103 |
293 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406460702 rs1278617341 |
294 | D>E | No |
ClinGen TOPMed |
|
|
CA406460704 rs1236387289 |
294 | D>G | No |
ClinGen TOPMed |
|
|
CA406460693 rs1229543647 |
295 | Q>H | No |
ClinGen TOPMed |
|
|
rs776083985 CA9528589 |
296 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11880658 VAR_061587 CA9528592 CA9528591 |
296 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs776083985 CA9528590 |
296 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11880658 CA9528593 |
296 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482290814 CA406460686 |
297 | G>E | No |
ClinGen TOPMed |
|
| rs1450099223 | 297 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049127105 CA309063597 |
298 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 298 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392124104 CA406460664 |
301 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9528588 rs765051486 |
301 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA406460665 rs765051486 |
301 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406460662 rs1392124104 |
301 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1322992790 CA406460658 |
302 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs202000765 CA309063576 |
302 | S>N | No |
ClinGen TOPMed |
|
|
CA9528587 rs761659794 |
303 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528586 rs776307230 |
303 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA406460643 rs1568589396 |
304 | R>T | No |
ClinGen Ensembl |
|
|
rs150848184 CA406460639 |
305 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528585 rs150848184 |
305 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528583 rs774367812 |
306 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA406460620 rs1568589380 |
307 | A>V | No |
ClinGen Ensembl |
|
|
CA9528579 rs770977018 |
308 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528578 rs749407834 |
309 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9528577 rs141430616 |
310 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141430616 CA406460607 |
310 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748486705 CA9528575 |
311 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs756385010 CA9528576 |
311 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA9528572 rs201985826 |
312 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309063495 rs201985826 |
312 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148713671 CA9528574 |
312 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406460591 rs1601463117 |
313 | E>* | No |
ClinGen Ensembl |
|
|
CA406460587 rs375348245 CA9528571 |
313 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9528569 rs750015411 |
315 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406460564 rs1257366938 |
317 | G>V | No |
ClinGen TOPMed |
|
|
RCV000431700 rs143086771 CA9528568 |
318 | N>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406460559 rs1332890816 |
318 | N>S | No |
ClinGen gnomAD |
|
|
CA406460552 rs1568589339 |
319 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9528565 rs776447958 |
323 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406460506 rs1450195591 |
326 | D>E | No |
ClinGen TOPMed |
|
|
CA9528563 rs74516985 |
326 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406460503 rs1276210718 |
327 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1276210718 CA406460504 |
327 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA309063389 rs1037232994 |
327 | Q>H | No |
ClinGen Ensembl |
|
|
rs1008161841 CA309063385 COSM712251 |
328 | G>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1244399337 CA406460497 |
328 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1167094521 CA406460488 |
329 | A>E | No |
ClinGen TOPMed |
|
|
rs1460464221 CA406460493 |
329 | A>T | No |
ClinGen TOPMed |
|
|
CA9528561 rs775373727 |
330 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9528562 rs775373727 |
330 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9528560 rs772062364 |
331 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 332 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309063367 rs1049412026 |
335 | Q>R | No |
ClinGen Ensembl |
|
|
CA9528559 rs145808289 |
338 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145808289 CA406460413 |
338 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406460392 rs1334308952 |
339 | A>D | No |
ClinGen TOPMed |
|
|
CA9528558 rs150665022 |
341 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309063331 rs150665022 |
341 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406460374 rs1249123566 |
341 | D>N | No |
ClinGen gnomAD |
|
|
rs769988646 CA9528557 |
343 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA406460298 rs1256920582 |
346 | G>E | No |
ClinGen TOPMed |
|
|
CA406460292 rs1395441479 |
347 | A>P | No |
ClinGen Ensembl |
|
|
rs1262772534 CA406460251 |
350 | E>D | No |
ClinGen TOPMed |
|
|
rs576712134 CA9528554 |
350 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309063260 rs878968526 |
351 | E>Q | No |
ClinGen TOPMed |
|
|
rs1430680887 CA406460232 |
352 | G>A | No |
ClinGen gnomAD |
|
|
rs780696100 CA9528550 |
353 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406460193 rs1601462989 |
355 | A>G | No |
ClinGen Ensembl |
|
|
CA9528549 rs758991386 |
355 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309063242 rs867416158 |
356 | A>T | No |
ClinGen Ensembl |
|
|
rs750939574 CA309063241 |
358 | N>K | No |
ClinGen TOPMed |
|
|
COSM344718 CA406460141 rs1478893476 |
359 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA406460108 rs1173728031 |
362 | E>K | No |
ClinGen TOPMed |
|
|
rs141966158 CA9528545 |
365 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141966158 CA406460055 |
365 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309063216 rs199509009 |
365 | D>N | No |
ClinGen 1000Genomes |
|
|
CA406460029 rs200702731 |
366 | N>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA9528542 rs760381430 |
367 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs574053078 CA309063193 |
369 | A>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs752543859 CA9528541 |
370 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA309063187 rs868388201 COSM1304805 |
370 | E>G | lung urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1333133846 CA406459894 |
376 | R>M | No |
ClinGen TOPMed |
|
|
CA406459884 rs1222074491 |
377 | S>A | No |
ClinGen TOPMed |
|
|
CA309063161 rs1027715581 |
378 | Q>R | No |
ClinGen TOPMed |
|
|
CA9528538 RCV000242410 RCV001683122 rs75175362 |
381 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 382 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34186470 CA309063134 |
383 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1259007630 COSM3721170 CA406459795 |
383 | H>Q | upper_aerodigestive_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs34186470 VAR_061588 CA9528537 |
383 | H>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9528536 rs773233267 |
384 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA309063106 rs540532754 |
385 | E>K | No |
ClinGen gnomAD |
|
|
CA9528535 rs769782570 |
386 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9528534 rs761999139 |
387 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA406459711 rs1568589124 |
390 | N>S | No |
ClinGen Ensembl |
|
|
rs768983801 CA9528532 |
391 | Q>E | No |
ClinGen ExAC |
|
|
rs1226516327 CA406459674 |
393 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9528531 COSM191078 rs145734886 |
393 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs780573635 CA9528527 |
394 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406459636 rs1196996581 |
395 | A>V | No |
ClinGen TOPMed |
|
|
CA9528524 rs772667494 |
397 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs746399510 CA9528523 |
398 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1207617452 CA406459590 |
399 | Q>* | No |
ClinGen gnomAD |
|
|
CA406459559 rs779524589 |
401 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA9528522 rs779524589 |
401 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429898947 CA406459530 |
403 | V>I | No |
ClinGen gnomAD |
|
|
CA9528521 rs756692332 |
404 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753452846 CA9528520 |
405 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867991727 CA309063007 |
407 | Q>H | No |
ClinGen Ensembl |
|
|
CA406459459 rs1160874095 |
408 | R>T | No |
ClinGen TOPMed |
|
|
rs371351811 CA309063000 |
410 | E>G | No |
ClinGen TOPMed |
|
|
CA309062978 rs962412243 |
411 | A>T | No |
ClinGen Ensembl |
|
|
RCV000964389 CA9528516 rs116866423 |
412 | V>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs752421136 CA9528517 |
412 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406459410 rs1302903418 |
413 | H>P | No |
ClinGen TOPMed |
|
|
CA9528515 rs759415223 |
413 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs948518433 CA309062966 |
413 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA309062955 rs891066458 |
415 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1253123529 CA406459358 |
417 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406459332 rs1305148913 |
418 | R>S | No |
ClinGen TOPMed |
|
|
rs1315461195 CA406459322 |
420 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1219418113 CA406459324 |
420 | P>S | No |
ClinGen gnomAD |
|
|
rs1267362487 CA406459316 |
421 | A>G | No |
ClinGen TOPMed |
|
|
CA309062951 rs1028190686 |
421 | A>P | No |
ClinGen TOPMed |
|
|
CA9528514 rs751473679 |
422 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9528511 rs145266047 |
426 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9528510 rs145266047 |
426 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406459263 rs1287381493 |
429 | R>K | No |
ClinGen gnomAD |
|
|
CA9528508 rs775949397 |
430 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775949397 CA406459260 |
430 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601462777 CA406459256 |
430 | A>V | No |
ClinGen Ensembl |
|
|
CA406459239 rs557334540 |
433 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528505 rs557334540 |
433 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746276818 COSM998423 CA9528506 |
433 | R>W | endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA406459235 rs1463400848 |
434 | A>G | No |
ClinGen gnomAD |
|
|
rs934397964 CA309062900 |
434 | A>S | No |
ClinGen TOPMed |
|
|
rs771525641 CA9528504 |
435 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1568589002 CA406459233 |
435 | G>S | No |
ClinGen Ensembl |
|
|
rs748687868 CA9528503 |
436 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs868504554 CA309062862 |
437 | R>G | No |
ClinGen Ensembl |
|
|
rs780054915 CA406459211 |
438 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780054915 CA9528502 |
438 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751874467 CA309062858 |
439 | E>V | No |
ClinGen TOPMed |
|
|
rs1163545008 CA406459203 |
440 | A>T | No |
ClinGen TOPMed |
|
|
rs865854115 CA309062857 |
441 | A>T | No |
ClinGen Ensembl |
|
|
rs1163735259 CA406459191 |
442 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406459172 rs1444820268 |
444 | Q>R | No |
ClinGen TOPMed |
|
|
CA406459160 rs539275231 |
446 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM998422 rs539275231 CA9528500 |
446 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1266020341 CA406459153 |
447 | G>A | No |
ClinGen gnomAD |
|
|
rs1568588972 CA406459145 |
448 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 449 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 450 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868868602 CA406459131 |
451 | I>F | No |
ClinGen gnomAD |
|
|
CA309062821 rs868868602 |
451 | I>V | No |
ClinGen gnomAD |
|
|
CA309062820 rs374397723 |
453 | E>A | No |
ClinGen ESP TOPMed |
|
|
CA9528499 rs570360176 |
454 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406459099 rs1267292678 |
455 | E>D | No |
ClinGen gnomAD |
|
|
rs113758753 CA309062804 |
456 | V>A | No |
ClinGen Ensembl |
|
|
rs934440630 CA309062808 |
456 | V>I | No |
ClinGen Ensembl |
|
|
rs1409464690 CA406459089 |
457 | S>L | No |
ClinGen gnomAD |
|
|
COSM1394762 rs754734333 CA9528497 |
458 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751431368 CA9528496 |
461 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs924296888 CA309062790 |
467 | P>L | No |
ClinGen TOPMed |
|
|
CA406459020 rs1367680840 |
469 | A>G | No |
ClinGen gnomAD |
|
|
rs550450826 CA9528495 |
470 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443715948 CA406459009 |
471 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406459011 rs1443715948 |
471 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA309062784 rs902919068 |
471 | A>V | No |
ClinGen TOPMed |
|
|
CA9528494 rs374344029 |
472 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201568093 CA9528492 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9528493 rs374344029 |
472 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146321487 CA9528491 |
475 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201582742 CA9528490 |
476 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309062753 rs944988595 |
477 | T>I | No |
ClinGen TOPMed |
|
|
rs767920503 CA9528489 |
479 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 480 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196319246 CA406458940 |
482 | T>N | No |
ClinGen gnomAD |
|
|
CA406458941 rs1463506406 |
482 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 483 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406458935 rs1442264052 |
483 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 484 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9528483 rs199580829 |
485 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199580829 CA9528484 |
485 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9528482 rs747693764 |
485 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747693764 CA406458924 |
485 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528478 COSM998420 rs145780413 |
487 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1481247 rs1380606214 CA406458904 |
488 | W>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs532222986 CA9528476 |
492 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765306809 CA9528475 |
492 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406458871 rs765306809 |
492 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406458870 rs756260382 |
493 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406458868 rs752885260 |
493 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528473 COSM3378944 rs752885260 |
493 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9528474 rs756260382 |
493 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759841134 CA9528471 |
494 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA309062652 rs996740288 |
496 | F>S | No |
ClinGen gnomAD |
|
|
rs1306738587 CA406458837 |
498 | H>Y | No |
ClinGen TOPMed |
|
|
CA406458830 rs1175612907 |
499 | T>A | No |
ClinGen gnomAD |
|
|
rs1232853849 CA406458826 |
499 | T>I | No |
ClinGen gnomAD |
|
|
rs1175612907 CA406458831 |
499 | T>P | No |
ClinGen gnomAD |
|
|
rs1601462591 CA406458820 |
500 | P>R | No |
ClinGen Ensembl |
|
|
rs1210324848 CA406458823 |
500 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 500 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543276848 CA9528470 |
501 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9528468 rs369514626 |
501 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9528467 rs369514626 |
501 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543276848 CA9528469 |
501 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9528466 rs374813764 |
504 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9528465 rs761297409 |
504 | T>N | No |
ClinGen ExAC |
|
|
CA406458797 rs1202491986 |
505 | L>P | No |
ClinGen gnomAD |
|
|
CA9528463 rs768261432 |
506 | P>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000247205 CA9528461 RCV001618470 CA9528462 rs2279517 VAR_020272 |
507 | K>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA309062599 rs893000877 |
510 | P>L | No |
ClinGen TOPMed |
|
|
CA406458767 rs142047380 |
511 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406458759 rs757272006 |
512 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528457 rs757272006 |
512 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752756721 CA9528456 |
513 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528454 rs77848696 |
515 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751779230 CA9528453 |
516 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766546559 CA9528452 |
516 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9528451 rs763369493 |
517 | N>D | No |
ClinGen ExAC gnomAD |
|
|
RCV002265787 rs745914961 RCV000523098 |
519 | R>missing | No |
ClinVar dbSNP |
|
|
CA406458707 rs1601462521 |
520 | V>G | No |
ClinGen Ensembl |
|
|
CA9528448 rs765669449 |
520 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs139750797 CA309062515 |
522 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309062511 rs866833102 |
523 | A>V | No |
ClinGen Ensembl |
|
|
rs1170403084 CA406458690 |
524 | E>K | No |
ClinGen gnomAD |
|
|
rs1356491603 CA406458682 |
525 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377233062 CA9528444 |
525 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9528442 rs771682366 |
527 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9528441 rs376613571 |
527 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406458650 rs1388500077 |
530 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9528439 rs770950034 |
530 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9528438 rs749259459 |
531 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200444005 CA406458635 |
532 | G>E | No |
ClinGen gnomAD |
|
|
rs1055948656 CA309062472 |
533 | E>G | No |
ClinGen Ensembl |
|
|
CA406458625 rs1247889525 |
534 | Q>* | No |
ClinGen gnomAD |
|
|
CA9528436 rs146060947 |
535 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 535 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309062454 rs1036387186 |
536 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9528435 RCV001756399 RCV001779342 rs144181069 |
537 | Q>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
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rs780306732 CA9528434 |
538 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
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| TCGA novel | 539 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9H0W5
2 regional properties for Q9H0W5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Pentatricopeptide repeat | 314 - 338 | IPR002885-1 |
| repeat | Pentatricopeptide repeat | 347 - 381 | IPR002885-2 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| 3M complex | A protein complex, at least composed of CUL7, CCDC8 and OBSL1, that is required for maintaining microtubule and genome integrity. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| regulation of mitotic nuclear division | Any process that modulates the frequency, rate or extent of mitosis. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UL42 | PNMA2 | Paraneoplastic antigen Ma2 | Homo sapiens (Human) | PR |
| Q8BHK0 | Pnma2 | Paraneoplastic antigen Ma2 homolog | Mus musculus (Mouse) | PR |
| Q8C1C8 | Pnma1 | Paraneoplastic antigen Ma1 homolog | Mus musculus (Mouse) | PR |
| Q8VHZ4 | Pnma1 | Paraneoplastic antigen Ma1 homolog | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLQIGEDVDY | LLIPREVRLA | GGVWRVISKP | ATKEAEFRER | LTQFLEEEGR | TLEDVARIME |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KSTPHPPQPP | KKPKEPRVRR | RVQQMVTPPP | RLVVGTYDSS | NASDSEFSDF | ETSRDKSRQG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRRGKKVRKM | PVSYLGSKFL | GSDLESEDDE | ELVEAFLRRQ | EKQPSAPPAR | RRVNLPVPMF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDNLGPQLSK | ADRWREYVSQ | VSWGKLKRRV | KGWAPRAGPG | VGEARLASTA | VESAGVSSAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EGTSPGDRLG | NAGDVCVPQA | SPRRWRPKIN | WASFRRRRKE | QTAPTGQGAD | IEADQGGEAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DSQREEAIAD | QREGAAGNQR | AGAPADQGAE | AADNQREEAA | DNQRAGAPAE | EGAEAADNQR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EEAADNQRAE | APADQRSQGT | DNHREEAADN | QRAEAPADQG | SEVTDNQREE | AVHDQRERAP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AVQGADNQRA | QARAGQRAEA | AHNQRAGAPG | IQEAEVSAAQ | GTTGTAPGAR | ARKQVKTVRF |
| 490 | 500 | 510 | 520 | 530 | |
| QTPGRFSWFC | KRRRAFWHTP | RLPTLPKRVP | RAGEARNLRV | LRAEARAEAE | QGEQEDQL |