Q08043
SS
Gene name |
ACTN3 |
Protein name |
Alpha-actinin-3 |
Names |
Alpha-actinin skeletal muscle isoform 3 , F-actin cross-linking protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:89 |
EC number |
|
Protein Class |
|
Descriptions
ACTN2 is a major F-actin cross-linking protein in both muscle and non-muscle cells and a major multivalent platform mediating interactions with many cytoskeletal or regulatory proteins. An interaction between the C-terminal region of ACTN2 and the Z-repeat motifs of Titin protein targets ACTN2 to the Z-disk. Full-length ACTN2 does not bind Z-repeats. ACTN2 has a region that acts as a pseudo-Z-repeat between the actin-binding domain (ABD) and the spectrin-like repeats (R1), and this region prevents ACTN2 from binding to the Z-repeat of Titin protein. This autoinhibition is relieved upon binding of the Z-disk lipid phosphatidylinositol-bisphosphate to the ABD of ACTN2.
Autoinhibitory domains (AIDs)
Target domain |
754-901 (EF-hand domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
4 structures for Q08043
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1TJT | X-ray | 219 A | A | 26-273 | PDB |
| 1WKU | X-ray | 160 A | A/B | 26-273 | PDB |
| 3LUE | EM | - | K/L/M/N/O/P/Q/R/S/T | 42-150 | PDB |
| AF-Q08043-F1 | Predicted | AlphaFoldDB |
924 variants for Q08043
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000019975 CA128040 RCV002482891 RCV000019976 rs1815739 RCV000019974 VAR_080044 |
577 | R>missing | ACTININ, ALPHA-3 POLYMORPHISM Actn3 deficiency INCREASED COLD TOLERANCE [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765250958 CA6124153 |
2 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760640694 CA6124152 |
2 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs775511809 CA6124154 |
6 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381435138 rs762846713 |
8 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762846713 CA6124155 |
8 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124156 rs369792497 |
8 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381435154 rs1176464340 |
11 | G>R | No |
ClinGen gnomAD |
|
|
rs1430857351 CA381435159 |
11 | G>V | No |
ClinGen gnomAD |
|
|
CA381435160 rs1467877050 |
12 | A>T | No |
ClinGen gnomAD |
|
|
rs1354886697 CA381435167 |
13 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6124159 rs767048407 |
14 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381435172 rs1444036438 |
14 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381435183 rs1372466078 |
15 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381435188 rs1283966731 |
16 | R>H | No |
ClinGen gnomAD |
|
|
rs1325834987 CA381435199 |
18 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 18 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381435213 rs1278106940 |
20 | G>C | No |
ClinGen gnomAD |
|
|
rs1231553800 CA381435219 |
21 | G>D | No |
ClinGen gnomAD |
|
|
CA6124161 rs755533562 |
21 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124163 rs372753126 |
22 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124162 rs780548504 |
22 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166327702 CA381435229 |
23 | G>D | No |
ClinGen gnomAD |
|
|
CA381435226 rs1270412033 |
23 | G>S | No |
ClinGen gnomAD |
|
|
rs1175108638 CA381435235 |
24 | G>D | No |
ClinGen gnomAD |
|
|
CA381435245 rs1411333333 |
25 | E>D | No |
ClinGen gnomAD |
|
|
rs772378418 CA6124167 |
26 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124166 rs748489193 |
26 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124169 rs747126112 |
27 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747126112 CA381435255 |
27 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124168 rs773265708 |
27 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA381435264 rs1434813973 |
28 | E>G | No |
ClinGen gnomAD |
|
|
rs770850460 CA6124170 |
28 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927370907 CA224062181 |
29 | Q>P | No |
ClinGen Ensembl |
|
|
rs1352043617 CA381435311 |
31 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381435324 rs1274364639 |
32 | D>N | No |
ClinGen gnomAD |
|
|
CA381435353 rs1216602590 |
33 | W>* | No |
ClinGen gnomAD |
|
|
CA6124173 rs201200629 |
35 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1341984494 CA381435378 |
35 | R>H | No |
ClinGen gnomAD |
|
|
CA6124174 rs201200629 |
35 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381435390 rs1294516403 |
36 | D>G | No |
ClinGen gnomAD |
|
|
CA6124175 rs201937354 |
36 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590801686 CA381435428 |
40 | D>N | No |
ClinGen Ensembl |
|
|
CA6124177 rs200315462 |
41 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200315462 CA6124176 |
41 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381435493 rs1418509985 |
44 | E>D | No |
ClinGen gnomAD |
|
|
rs1184479674 CA381435490 |
44 | E>G | No |
ClinGen gnomAD |
|
|
rs1165242514 CA381435511 |
46 | Q>K | No |
ClinGen gnomAD |
|
|
rs1363593407 CA381435518 |
46 | Q>P | No |
ClinGen gnomAD |
|
|
rs908049469 CA224062217 |
47 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765937894 CA6124180 |
47 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124181 rs754278158 |
48 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381435546 rs1433151970 |
49 | K>R | No |
ClinGen gnomAD |
|
|
CA381436136 rs1270455118 |
51 | F>S | No |
ClinGen TOPMed |
|
|
CA224065169 rs966558855 |
52 | T>I | No |
ClinGen TOPMed |
|
|
rs1565303424 CA381436143 |
52 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 53 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760486468 CA6124213 |
54 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs770599029 CA6124214 |
55 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1590803999 CA381436226 |
58 | H>L | No |
ClinGen Ensembl |
|
|
rs1168827560 CA381436217 |
58 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1168827560 CA381436220 |
58 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA381436235 rs1428381071 |
59 | L>V | No |
ClinGen gnomAD |
|
|
CA6124216 rs759059596 |
60 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs774833491 CA6124217 |
60 | R>H | Variant assessed as Somatic; 0.0002792 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774833491 CA6124218 |
60 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124219 rs763421087 |
61 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs900010042 CA224065202 |
63 | G>V | No |
ClinGen gnomAD |
|
|
CA381436294 rs1252823244 |
64 | T>A | No |
ClinGen gnomAD |
|
|
rs1337270345 CA381436306 |
65 | Q>* | No |
ClinGen gnomAD |
|
|
CA6124221 rs751902903 |
65 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381436321 rs1292322577 |
66 | I>V | No |
ClinGen gnomAD |
|
|
rs757650045 CA6124222 |
67 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6124223 rs376028578 |
69 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124225 rs756395726 |
70 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA381436407 rs1424598917 |
72 | D>E | No |
ClinGen TOPMed |
|
|
rs780052561 CA6124226 |
74 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6124227 rs202165715 |
74 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381436433 rs202165715 |
74 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381436443 rs1382112791 |
75 | N>S | No |
ClinGen TOPMed |
|
|
rs758304800 CA6124228 |
76 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA224065246 rs758304800 |
76 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA381436459 rs1366693648 |
77 | L>F | No |
ClinGen gnomAD |
|
|
rs1427136891 CA381436474 |
78 | K>R | No |
ClinGen gnomAD |
|
|
rs369975190 CA6124229 |
79 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381436481 rs369975190 |
79 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764784538 CA6124231 |
80 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1362588103 CA381436514 |
82 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1362588103 CA381436507 |
82 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1220211398 CA381436541 |
84 | E>Q | No |
ClinGen gnomAD |
|
|
CA6124236 rs762487347 |
85 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310660071 CA381436593 |
86 | I>M | No |
ClinGen TOPMed |
|
|
rs764535103 CA6124237 |
86 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774866900 CA6124238 |
88 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6124255 rs773998294 |
90 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176778136 CA381436764 |
91 | L>P | No |
ClinGen gnomAD |
|
|
rs999104173 CA224065649 |
92 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381436814 rs1407865191 |
94 | P>Q | No |
ClinGen gnomAD |
|
|
CA224065653 rs952736698 |
98 | K>Q | No |
ClinGen TOPMed |
|
|
rs138699570 CA6124257 |
100 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224065692 rs763136343 |
100 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs138699570 CA6124258 |
100 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373402473 CA6124260 |
103 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381437012 rs1290257280 |
105 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766530255 CA6124261 |
106 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6124262 rs754033055 |
106 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6124264 rs765424415 |
107 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1278994429 CA381437054 |
109 | K>E | No |
ClinGen gnomAD |
|
|
rs1022686877 CA224065742 |
109 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752752198 CA6124265 |
113 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381437142 rs1255821979 |
114 | I>T | No |
ClinGen gnomAD |
|
|
CA224065749 rs908832107 |
114 | I>V | No |
ClinGen TOPMed |
|
|
CA6124266 rs757226651 |
115 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224065750 rs756549097 |
115 | A>T | No |
ClinGen Ensembl |
|
|
rs1179528297 CA381437179 |
116 | S>N | No |
ClinGen gnomAD |
|
|
CA381437188 rs1248965969 |
116 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA224065755 rs780253115 |
117 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381437225 rs1327754539 |
118 | G>V | No |
ClinGen gnomAD |
|
|
rs750243492 CA381437231 |
119 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs750243492 CA6124268 |
119 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs755883156 CA6124269 |
120 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124270 rs779581930 |
121 | L>M | No |
ClinGen ExAC |
|
| TCGA novel | 123 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124272 rs370614471 |
124 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124274 rs533712814 |
125 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6124273 rs778611371 |
125 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs569022261 CA6124276 |
127 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124275 rs772734725 |
127 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6124291 rs778666308 |
130 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381437731 TCGA novel rs771648881 |
131 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA6124292 rs747680597 |
131 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA381437732 CA6124294 rs780639406 |
132 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381437742 rs1291398877 |
133 | N>I | No |
ClinGen gnomAD |
|
|
rs896722096 CA224067574 |
134 | L>Q | No |
ClinGen TOPMed |
|
|
CA381437763 rs1449434373 |
136 | M>I | No |
ClinGen gnomAD |
|
|
rs771328993 CA6124297 |
137 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6124296 rs747618047 |
137 | T>P | No |
ClinGen ExAC TOPMed |
|
|
rs777094184 CA6124299 |
139 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs746180482 CA6124300 |
140 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381437807 rs1362614028 |
141 | I>F | No |
ClinGen TOPMed |
|
|
CA381437828 rs1165453661 |
142 | W>* | No |
ClinGen gnomAD |
|
|
rs374050345 CA6124302 |
142 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124301 rs770027850 |
142 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377124055 CA6124304 |
145 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs71457727 CA224067646 |
146 | L>F | No |
ClinGen Ensembl |
|
|
CA6124305 rs370463721 |
147 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124306 rs774285672 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6124307 rs374445358 |
149 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6124311 rs372926742 |
152 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367706008 CA6124310 |
152 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs988327948 CA224067693 |
153 | I>N | No |
ClinGen Ensembl |
|
|
CA381437957 rs1227197706 |
154 | S>A | No |
ClinGen gnomAD |
|
|
rs1227197706 CA381437955 |
154 | S>P | No |
ClinGen gnomAD |
|
|
rs972128921 CA224067707 |
155 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381437993 rs1247165125 |
157 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322976363 CA381438108 |
160 | A>G | No |
ClinGen TOPMed |
|
|
rs543883614 CA6124341 |
163 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6124342 rs543883614 |
163 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381438159 rs1407409468 |
164 | L>W | No |
ClinGen gnomAD |
|
|
rs574539717 CA6124343 |
165 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381438173 rs1345727860 |
165 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1273370576 CA381438183 |
166 | L>P | No |
ClinGen gnomAD |
|
|
rs543456238 CA6124344 |
168 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6124345 rs748276099 |
168 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909197162 CA224068129 |
169 | Q>R | No |
ClinGen Ensembl |
|
|
rs1037444449 CA224068135 |
172 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771981040 CA6124346 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370740496 CA6124347 |
174 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276610077 CA381438289 |
174 | P>S | No |
ClinGen gnomAD |
|
|
rs769832794 CA6124349 |
175 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs775456822 CA6124350 |
176 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381438315 rs1201348087 |
176 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381438313 rs1201348087 |
176 | R>P | No |
ClinGen gnomAD |
|
|
rs563563593 CA6124352 |
178 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6124354 rs532326834 |
180 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381438825 rs1390913607 |
184 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381438985 rs767162465 |
187 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767162465 CA6124374 |
187 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381439019 rs1227065800 |
189 | D>N | No |
ClinGen gnomAD |
|
|
CA381439044 rs1463781047 |
190 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs375901785 CA6124375 |
192 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427291442 CA381439100 |
195 | A>G | No |
ClinGen TOPMed |
|
|
CA224068469 rs894052808 |
197 | I>S | No |
ClinGen Ensembl |
|
|
CA6124378 rs368333449 |
199 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381439180 rs34515982 |
199 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124379 rs34515982 |
199 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124381 rs765678198 |
201 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124382 rs566281518 |
201 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758588679 CA6124383 |
202 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305427644 CA381439238 |
203 | D>G | No |
ClinGen TOPMed |
|
|
CA6124384 rs376094609 |
204 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381439266 rs1263672610 |
204 | L>P | No |
ClinGen gnomAD |
|
|
CA381439290 rs1354966216 |
206 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749294085 CA6124388 |
208 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327388370 CA381439349 |
209 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1388579187 CA381439370 |
210 | L>V | No |
ClinGen gnomAD |
|
|
CA381439384 rs1208449597 |
211 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6124389 rs200452235 |
211 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 212 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381439514 rs1303583670 |
213 | D>G | No |
ClinGen gnomAD |
|
|
rs1381590156 CA381439509 |
213 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6124414 rs375953442 |
216 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590806750 CA381439575 |
216 | I>T | No |
ClinGen Ensembl |
|
|
CA381439571 rs1426845971 |
216 | I>V | No |
ClinGen gnomAD |
|
|
CA6124415 rs201617889 |
217 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA381439731 CA6124418 rs376771744 |
224 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs550530030 CA224068762 |
224 | E>G | No |
ClinGen 1000Genomes |
|
|
CA6124417 rs759047603 |
224 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA381439799 rs1217784639 |
227 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590806784 CA381439927 |
234 | K>R | No |
ClinGen Ensembl |
|
|
CA381439958 rs1231339718 |
235 | M>I | No |
ClinGen gnomAD |
|
|
rs764609882 CA6124421 |
235 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124422 rs144340728 |
238 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381440025 rs1257828880 |
239 | E>D | No |
ClinGen TOPMed |
|
|
CA381440013 rs1248055016 |
239 | E>K | No |
ClinGen gnomAD |
|
|
rs904154309 CA224068810 |
240 | D>N | No |
ClinGen TOPMed |
|
|
rs763563667 CA6124437 |
241 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs978226473 CA224069614 |
243 | N>K | No |
ClinGen Ensembl |
|
|
CA381440214 rs1416134077 |
244 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs528786989 CA224069622 |
244 | T>I | No |
ClinGen 1000Genomes |
|
|
rs1416134077 CA381440217 |
244 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6124438 rs769252562 |
246 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs146294881 CA6124441 |
247 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146294881 CA381440264 |
247 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6124440 rs762216717 |
247 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1326338491 CA381440297 |
249 | E>K | No |
ClinGen gnomAD |
|
|
rs1449458702 CA381440318 |
250 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA381440334 rs1366402569 |
250 | K>N | No |
ClinGen gnomAD |
|
|
rs766541156 CA6124444 |
251 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124445 rs753840756 |
252 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA381440354 rs1376417436 |
252 | I>V | No |
ClinGen gnomAD |
|
|
rs777648091 CA6124447 |
253 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6124446 rs758373311 |
253 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs368334575 CA6124449 |
255 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590807333 CA381440409 |
256 | V>G | No |
ClinGen Ensembl |
|
|
rs1283343900 CA381440410 |
257 | S>T | No |
ClinGen gnomAD |
|
|
rs139548317 CA6124451 |
258 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745590457 CA6124452 |
259 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381440435 rs1590807348 |
259 | F>Y | No |
ClinGen Ensembl |
|
|
rs1187353660 CA381440480 |
262 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6124453 rs769307600 |
262 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381440484 rs1187353660 |
262 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1384786701 CA381440519 |
265 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6124456 rs748764474 |
265 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA381440527 rs1565306080 |
266 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs372129294 CA6124458 |
266 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762276246 CA6124459 |
267 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748817302 CA6124473 |
270 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1194160007 CA381441977 |
271 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381442023 rs1250019448 |
273 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381442209 rs1251594898 |
280 | L>Q | No |
ClinGen gnomAD |
|
|
rs796842987 CA224070912 |
281 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 281 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381442256 rs1454207312 |
282 | V>A | No |
ClinGen gnomAD |
|
|
rs748725379 CA6124476 |
285 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388194424 CA381442365 |
287 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA224070918 rs938568949 |
287 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs773667032 CA6124478 |
290 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370056274 CA381442425 |
290 | M>T | No |
ClinGen gnomAD |
|
|
CA381442415 rs1323644541 |
290 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224070920 rs993179650 |
292 | E>K | No |
ClinGen Ensembl |
|
|
rs1362967914 CA381442561 |
296 | L>F | No |
ClinGen gnomAD |
|
|
CA224070939 rs542222053 |
297 | A>T | No |
ClinGen 1000Genomes |
|
|
CA224070944 rs917923434 |
298 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6124479 rs747298153 |
298 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747298153 CA381442585 |
298 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1161094835 | 300 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590808308 CA381442685 |
301 | L>R | No |
ClinGen Ensembl |
|
|
rs1168968221 CA381442697 |
302 | E>D | No |
ClinGen TOPMed |
|
|
CA6124499 rs746136942 |
302 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs776965942 CA6124498 |
302 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs996496796 CA224071358 |
303 | W>* | No |
ClinGen Ensembl |
|
|
rs1303288798 CA381442705 |
303 | W>R | No |
ClinGen gnomAD |
|
|
CA6124501 rs769970803 |
305 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124502 rs775576167 |
305 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124503 rs375241946 |
306 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124504 rs538173919 |
306 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772952465 CA6124505 |
307 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1257063574 CA381442762 |
308 | V>I | No |
ClinGen gnomAD |
|
|
CA6124507 rs766338231 |
309 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381442782 rs1199403564 |
311 | L>M | No |
ClinGen TOPMed |
|
|
rs200574979 CA6124509 |
314 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764944862 CA6124510 |
314 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590808406 CA381442816 |
316 | G>D | No |
ClinGen Ensembl |
|
|
rs549338699 CA6124511 |
317 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124513 rs778349304 |
320 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432829883 CA381442869 |
323 | M>I | No |
ClinGen gnomAD |
|
|
CA6124514 rs752062387 |
324 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374716398 CA6124515 |
325 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369932492 CA6124516 |
325 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369932492 CA381442882 |
325 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746190000 CA6124517 |
326 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1329833287 CA381442899 |
328 | E>G | No |
ClinGen TOPMed |
|
|
CA6124519 rs780187824 |
330 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201487054 CA6124521 |
331 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381442919 rs1232811519 |
331 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1342165629 CA381442924 |
332 | D>Y | No |
ClinGen gnomAD |
|
|
CA224071489 rs931067920 |
333 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6124522 rs376592844 |
334 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770965934 CA6124524 |
334 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6124523 rs376592844 |
334 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124526 rs759356391 |
335 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764995968 CA6124527 |
337 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1452487798 CA381442951 |
337 | H>Y | No |
ClinGen gnomAD |
|
|
CA224071531 rs919907864 |
339 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381442966 rs1390719516 |
339 | P>S | No |
ClinGen gnomAD |
|
|
rs369473048 CA6124528 |
341 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124529 rs373409167 |
341 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs763560182 CA6124530 |
342 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs377498768 CA6124532 |
344 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370591007 CA381442998 CA6124533 |
344 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381443021 CA6124534 rs556150704 |
347 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381443030 rs1342423372 |
349 | E>A | No |
ClinGen TOPMed |
|
|
CA381443039 rs1565307055 |
350 | I>T | No |
ClinGen Ensembl |
|
|
CA6124535 rs756399314 |
351 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381443056 rs1375451956 |
352 | F>L | No |
ClinGen TOPMed |
|
|
CA381443067 rs1221925295 |
354 | T>A | No |
ClinGen gnomAD |
|
|
rs373370220 CA6124537 |
355 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381443077 rs1192812672 |
356 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381443075 rs1192812672 |
356 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748223048 CA6124541 |
360 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124540 rs748223048 |
360 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124539 rs371613741 |
360 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs575834618 CA6124542 |
361 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381443151 rs1590808613 |
363 | H>P | No |
ClinGen Ensembl |
|
|
rs759411497 CA6124543 |
364 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428006874 CA381443164 |
364 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6124544 rs769779821 |
365 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762551548 CA6124546 |
366 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs763762169 CA6124547 |
368 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA381443213 rs1590808666 |
370 | S>T | No |
ClinGen Ensembl |
|
|
rs368474114 CA6124549 |
371 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368474114 CA6124550 |
371 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124551 rs750992462 |
372 | G>D | No |
ClinGen ExAC TOPMed |
|
|
rs1475101144 CA381443259 |
373 | K>N | No |
ClinGen gnomAD |
|
|
CA381443247 rs1590808702 |
373 | K>Q | No |
ClinGen Ensembl |
|
|
rs766706071 CA6124553 |
374 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6124552 rs756597388 |
374 | L>V | No |
ClinGen ExAC |
|
|
rs201536131 CA6124554 |
376 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381443386 rs1413176606 |
377 | D>E | No |
ClinGen TOPMed |
|
|
CA6124576 rs778038749 |
379 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs991670863 CA224071812 |
380 | N>S | No |
ClinGen TOPMed |
|
|
CA6124579 rs371756314 |
381 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439814582 CA381443469 |
382 | W>* | No |
ClinGen gnomAD |
|
|
rs533701712 CA6124580 |
382 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 382 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224071823 rs375781686 |
383 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369005221 CA6124583 |
383 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369005221 CA224071825 |
383 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375781686 CA6124581 |
383 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771359538 CA6124587 |
384 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124585 rs199741304 |
384 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199741304 CA6124586 |
384 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168034112 CA381443499 |
385 | L>M | No |
ClinGen gnomAD |
|
|
CA6124588 rs377760740 |
385 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381443521 rs1295443077 |
386 | E>Q | No |
ClinGen TOPMed |
|
|
CA381443547 rs1327934779 |
387 | Q>* | No |
ClinGen gnomAD |
|
|
CA6124590 rs765693225 |
387 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1590808885 CA381443576 |
388 | V>G | No |
ClinGen Ensembl |
|
|
CA6124592 rs763298569 |
391 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs577663573 CA6124593 |
392 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381443658 rs1252013062 |
393 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751702499 CA381443662 |
393 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757294826 CA6124595 |
394 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1040736871 CA224071885 |
395 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1040736871 CA381443701 |
395 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1459786551 CA381443686 |
395 | W>R | No |
ClinGen TOPMed |
|
|
CA6124596 rs781124008 |
395 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA224071898 rs900805525 |
396 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754847138 CA6124599 |
398 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA381443736 rs1247773260 |
399 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1247773260 CA381443738 |
399 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747900211 CA6124601 |
400 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124603 rs777352539 |
401 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124602 rs552002828 |
401 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381443751 rs746507012 |
402 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746507012 CA6124604 |
402 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770542513 CA6124605 |
402 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1590808977 CA381443758 |
403 | L>P | No |
ClinGen Ensembl |
|
|
CA6124606 rs536382550 |
405 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555878172 CA6124607 |
405 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1328219808 CA381443793 |
407 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381443814 rs1225367504 |
408 | H>Q | No |
ClinGen gnomAD |
|
|
rs1028224789 CA381443824 |
410 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA224071994 rs1028224789 |
410 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776018782 CA6124609 |
411 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763352082 CA6124610 |
412 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA6124612 rs371569219 |
413 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124611 rs764415736 |
413 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA224072031 rs1010732231 |
414 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381443893 rs1010732231 |
414 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200842599 CA6124613 |
414 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224072037 rs1022166396 |
416 | K>R | No |
ClinGen TOPMed |
|
|
CA224072061 rs538261747 |
417 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6124614 rs201812719 |
417 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124615 rs201812719 |
417 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1191884706 CA381443947 |
419 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370647530 CA6124616 |
420 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752506679 CA6124618 |
421 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381443966 rs1416975204 |
422 | A>D | No |
ClinGen gnomAD |
|
|
CA381443967 rs1416975204 |
422 | A>G | No |
ClinGen gnomAD |
|
|
rs1162510427 CA381443965 |
422 | A>S | No |
ClinGen gnomAD |
|
|
rs1454121342 CA381443983 |
424 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124621 rs777539846 |
425 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs777539846 CA6124620 |
425 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199897168 CA6124619 |
425 | R>W | Variant assessed as Somatic; 0.0005304 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381444503 rs1310542593 |
426 | G>A | No |
ClinGen TOPMed |
|
|
CA6124622 rs756839439 |
426 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772355552 CA6124648 |
428 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773244688 CA381444537 |
428 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748414364 CA6124647 |
428 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs201302484 CA6124650 |
429 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124652 rs776671067 |
431 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6124653 rs569706018 |
432 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751381973 CA6124655 |
433 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA381444640 rs756933832 |
434 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124657 rs756933832 |
434 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124656 rs756933832 |
434 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779747275 CA6124660 |
435 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755801474 CA6124659 |
435 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1470844170 CA381444659 |
436 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6124662 rs368433069 |
438 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381444719 rs1231415107 |
439 | A>D | No |
ClinGen gnomAD |
|
|
CA381444750 rs1314624227 |
440 | L>F | No |
ClinGen TOPMed |
|
|
CA381444815 rs1354573274 |
443 | E>K | No |
ClinGen TOPMed |
|
|
CA381444849 rs1362084546 |
445 | R>Q | No |
ClinGen TOPMed |
|
|
CA381444843 rs1401432854 |
445 | R>W | No |
ClinGen TOPMed |
|
|
rs1206102109 CA381444855 |
446 | A>T | No |
ClinGen gnomAD |
|
|
CA6124667 rs778191526 |
447 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA381444893 rs1452556707 |
449 | R>Q | No |
ClinGen gnomAD |
|
|
CA6124670 rs771111976 |
450 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124674 rs375293272 |
452 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375293272 CA6124673 |
452 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375293272 CA6124672 |
452 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124675 rs761796701 |
453 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429296282 CA381444946 |
453 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767260874 CA6124676 |
456 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1590809784 CA381445008 |
457 | D>E | No |
ClinGen Ensembl |
|
|
CA381444999 rs1397310837 |
457 | D>N | No |
ClinGen gnomAD |
|
|
CA381444997 rs1397310837 |
457 | D>Y | No |
ClinGen gnomAD |
|
|
rs1007462942 CA381445022 |
459 | A>E | No |
ClinGen TOPMed |
|
|
rs1007462942 CA224074742 |
459 | A>V | No |
ClinGen TOPMed |
|
|
CA381445039 rs1293466743 |
460 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1215838008 CA381445042 |
461 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1215838008 CA381445044 |
461 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs753414412 CA6124680 |
462 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6124681 rs754473781 |
464 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124682 rs371839154 |
464 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 465 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377211880 CA6124685 |
465 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124686 rs747335900 |
466 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs554465054 CA6124687 |
466 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369800588 CA6124688 |
467 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369800588 CA224074796 |
467 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124689 rs374547195 |
468 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381445153 rs374547195 |
468 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381445168 rs1166102142 |
469 | A>T | No |
ClinGen gnomAD |
|
|
rs369615114 CA6124693 |
470 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369615114 CA381445187 |
470 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124694 rs773160523 |
470 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA381445223 rs766136532 |
471 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124697 rs766136532 |
471 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1294748012 | 475 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415087932 CA381445289 |
475 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6124698 rs753612745 |
475 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332332091 CA381445310 |
476 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1565308459 CA381445387 |
477 | E>K | No |
ClinGen Ensembl |
|
|
CA6124726 rs756312504 |
479 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381445413 rs756312504 |
479 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590810448 CA381445434 |
480 | Y>S | No |
ClinGen Ensembl |
|
|
CA224075203 rs1032175015 |
481 | H>Q | No |
ClinGen gnomAD |
|
|
CA381445461 rs749330175 |
482 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124728 rs749330175 |
482 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780263796 CA6124727 |
482 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224075226 rs988024128 |
484 | A>P | No |
ClinGen gnomAD |
|
|
CA381445483 rs988024128 |
484 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439866160 CA381445501 |
485 | S>L | No |
ClinGen gnomAD |
|
|
CA6124729 rs755154040 |
488 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1455132344 CA381445545 |
489 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381445547 rs1455132344 |
489 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA381445551 rs1194955396 |
489 | R>H | No |
ClinGen gnomAD |
|
|
CA381445583 rs1375368125 |
491 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779124261 CA6124730 |
492 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA224075242 rs913811940 |
492 | A>P | No |
ClinGen gnomAD |
|
|
rs1463839894 CA381445605 |
493 | I>T | No |
ClinGen gnomAD |
|
|
CA381445635 rs1443095871 |
495 | D>G | No |
ClinGen gnomAD |
|
|
CA381445629 rs1395107785 |
495 | D>H | No |
ClinGen gnomAD |
|
|
CA381445627 rs1395107785 |
495 | D>N | No |
ClinGen gnomAD |
|
|
rs1270946764 CA381445670 |
497 | W>C | No |
ClinGen gnomAD |
|
|
CA381445658 rs770961890 |
497 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA381445664 rs1232650547 |
497 | W>L | No |
ClinGen gnomAD |
|
|
CA6124732 rs770961890 |
497 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6124734 rs370953791 |
498 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124733 rs370953791 |
498 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1217157092 CA381445694 |
499 | N>S | No |
ClinGen gnomAD |
|
|
rs1217157092 CA381445692 |
499 | N>T | No |
ClinGen gnomAD |
|
|
rs1469195414 CA381445702 |
500 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433482432 CA381445725 |
502 | T>S | No |
ClinGen TOPMed |
|
|
CA381445752 rs1374415392 |
504 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA381445756 rs1476669912 |
505 | Q>* | No |
ClinGen gnomAD |
|
|
CA381445763 rs1169687897 |
505 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1461126795 CA381445770 |
506 | K>E | No |
ClinGen TOPMed |
|
|
CA6124737 rs762496480 |
506 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs192533489 CA6124738 |
508 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1161342501 CA381445798 |
508 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs567923786 CA6124739 |
510 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6124741 rs767962909 |
511 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381445850 rs1590810616 |
512 | E>G | No |
ClinGen Ensembl |
|
|
CA381445911 rs368214398 |
513 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368214398 CA6124766 |
513 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766817028 CA6124765 |
513 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA381445927 rs1437873589 |
514 | M>I | No |
ClinGen gnomAD |
|
|
rs1590810759 CA381445918 |
514 | M>L | No |
ClinGen Ensembl |
|
|
CA381445941 rs1590810766 |
515 | E>G | No |
ClinGen Ensembl |
|
|
CA6124767 rs759869698 |
517 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124769 rs752842315 |
520 | T>A | No |
ClinGen ExAC |
|
|
CA6124770 rs370933594 |
521 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381446011 rs1301320899 |
521 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 522 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1671064 CA6124772 VAR_012705 |
523 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6124771 rs767267555 |
523 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 526 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224075416 rs766602879 |
526 | L>R | No |
ClinGen gnomAD |
|
|
CA381446096 rs1436717485 |
527 | E>K | No |
ClinGen TOPMed |
|
|
CA381446122 rs1590810854 |
528 | F>V | No |
ClinGen Ensembl |
|
|
CA381446167 rs779925641 |
530 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779925641 CA6124775 |
530 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207519234 CA381446163 |
530 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6124778 rs368086463 |
531 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368086463 CA6124777 |
531 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749033120 CA6124776 |
531 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372101780 CA381446222 |
533 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381446218 rs761285728 |
533 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124783 rs761285728 |
533 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124782 rs761285728 |
533 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372101780 CA6124784 |
533 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124786 rs765564727 |
534 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6124788 rs775923140 |
535 | F>S | No |
ClinGen ExAC |
|
|
CA381446255 rs775923140 |
535 | F>Y | No |
ClinGen ExAC |
|
|
rs1462787404 CA381446290 |
536 | N>S | No |
ClinGen gnomAD |
|
|
rs763243313 CA6124789 |
537 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764271150 CA6124791 |
538 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1286734509 CA381446344 |
539 | L>Q | No |
ClinGen TOPMed |
|
|
CA381446358 rs1369041504 |
540 | D>A | No |
ClinGen gnomAD |
|
|
rs184916656 CA6124793 |
541 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124792 rs184916656 |
541 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 542 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590810976 CA381446422 |
543 | V>A | No |
ClinGen Ensembl |
|
|
CA6124795 rs367692010 |
543 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124796 rs754832354 |
544 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388413178 CA381446460 |
545 | D>G | No |
ClinGen gnomAD |
|
|
CA381446463 rs1388413178 |
545 | D>V | No |
ClinGen gnomAD |
|
|
rs1301928838 CA381446477 |
546 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs747848891 CA6124798 |
546 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs372586045 CA381446570 |
548 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224075539 rs982076978 |
549 | V>A | No |
ClinGen Ensembl |
|
|
rs563602101 CA6124800 |
549 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577316394 CA224075550 |
552 | V>G | No |
ClinGen Ensembl |
|
|
rs746456021 CA6124801 |
553 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs776939893 CA6124803 |
555 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771486650 CA6124802 |
555 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590811051 CA381446741 |
556 | E>G | No |
ClinGen Ensembl |
|
|
CA381446725 rs1421849757 |
556 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381446807 rs1186139856 |
559 | Q>* | No |
ClinGen TOPMed |
|
|
rs376065059 CA6124828 |
560 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6124830 rs772091427 |
564 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6124832 rs375580657 |
565 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752502827 CA224075860 |
566 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752502827 CA6124834 |
566 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762591963 CA6124835 |
568 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1447041233 CA381447292 |
570 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1357153384 CA381447277 |
570 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1280039040 CA381447309 |
571 | T>I | No |
ClinGen gnomAD |
|
|
rs782441618 CA6124836 |
572 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1242394384 CA381447331 |
573 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1242394384 CA381447334 |
573 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381447360 rs1219977687 |
574 | E>G | No |
ClinGen gnomAD |
|
|
CA6124838 rs782134921 |
574 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 575 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124839 rs782740078 |
576 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224075870 rs781859126 |
577 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA381447412 rs781859126 |
577 | R>L | No |
ClinGen TOPMed |
|
|
rs1815739 VAR_080044 |
577 | R>del | No |
UniProt dbSNP |
|
|
rs1209905091 CA381447414 |
578 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1209905091 CA381447415 |
578 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs202032409 CA6124841 |
579 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587683188 CA6124842 |
579 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381447459 rs1176224987 |
580 | G>D | No |
ClinGen gnomAD |
|
|
CA6124843 rs144238180 |
581 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381447524 CA381447529 rs1173916674 |
583 | M>I | No |
ClinGen gnomAD |
|
|
CA224075877 rs1042175804 |
583 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768957946 CA6124845 |
586 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768957946 CA6124844 |
586 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124848 rs772244128 |
592 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs773302903 CA381447753 |
594 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
rs773302903 CA6124849 |
594 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
rs377076795 CA6124850 |
595 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377076795 CA6124851 |
595 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124855 rs374176001 |
596 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124857 rs577232517 |
599 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6124856 rs761392416 |
599 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749953997 CA6124858 |
605 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224075990 rs758311604 |
607 | I>M | No |
ClinGen gnomAD |
|
|
rs1482787217 CA381447985 |
610 | S>C | No |
ClinGen gnomAD |
|
|
rs545999249 CA6124859 |
611 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381448036 rs1425260953 |
613 | D>E | No |
ClinGen gnomAD |
|
|
rs1565309196 CA381448049 |
614 | I>N | No |
ClinGen Ensembl |
|
|
rs1165208376 CA381448061 |
615 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381448059 rs1165208376 |
615 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1565309206 CA381448070 |
616 | T>A | No |
ClinGen Ensembl |
|
|
CA381448085 rs1294737583 |
617 | K>* | No |
ClinGen TOPMed |
|
|
rs755478725 CA6124864 |
619 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs572962479 CA6124862 |
619 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224076025 rs1005453249 |
620 | M>T | No |
ClinGen Ensembl |
|
|
CA381448922 rs1451634741 |
620 | M>V | No |
ClinGen gnomAD |
|
|
CA381449032 rs1459438003 |
621 | V>A | No |
ClinGen gnomAD |
|
|
CA381449029 rs1368969405 |
621 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA381449022 rs1368969405 |
621 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200463643 CA6124880 |
622 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124881 rs766026099 |
622 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381449062 rs1231202783 |
623 | K>N | No |
ClinGen gnomAD |
|
|
CA224076354 rs111569964 |
625 | V>M | No |
ClinGen Ensembl |
|
|
CA224076355 rs1009421861 |
626 | P>L | No |
ClinGen Ensembl |
|
|
CA381449143 rs1482498988 |
627 | S>G | No |
ClinGen TOPMed |
|
|
VAR_047528 rs618838 CA6124882 |
628 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs867857611 CA224076361 |
628 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381449193 rs1590811759 |
629 | D>A | No |
ClinGen Ensembl |
|
|
VAR_033488 rs2229456 CA6124884 |
635 | E>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755463676 CA6124883 |
635 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2229456 CA6124885 |
635 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381449348 rs1354994179 |
637 | A>G | No |
ClinGen gnomAD |
|
|
CA224076370 rs537021714 |
638 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747282897 CA6124888 |
638 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs537021714 CA6124887 |
638 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1215617079 CA381449377 |
639 | Q>H | No |
ClinGen gnomAD |
|
|
CA6124889 rs757442638 |
640 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590811813 CA381449408 |
641 | V>G | No |
ClinGen Ensembl |
|
|
rs557418428 CA6124891 |
643 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6124894 rs565643850 |
646 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200416232 CA6124893 |
646 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124895 rs772039426 |
647 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224076424 rs1054840351 |
647 | R>Q | No |
ClinGen Ensembl |
|
|
CA381449532 rs1403301126 |
648 | Q>* | No |
ClinGen gnomAD |
|
|
rs773109570 CA6124897 |
649 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760434035 CA6124898 |
650 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381449625 rs1209815645 |
653 | A>T | No |
ClinGen TOPMed |
|
|
CA6124902 rs759021190 |
656 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124901 rs201682133 |
656 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs897083627 CA224076489 |
657 | G>R | No |
ClinGen Ensembl |
|
|
CA6124904 rs539782432 |
661 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 661 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124905 rs368454306 |
662 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1590811912 CA381449837 |
664 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 666 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751921813 CA6124926 |
667 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA224076586 rs1026499015 |
669 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs377612653 CA6124927 |
669 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1026499015 CA381449932 |
669 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381449944 rs1229001563 |
670 | L>P | No |
ClinGen TOPMed |
|
|
CA381449952 rs1369108651 |
671 | A>E | No |
ClinGen gnomAD |
|
|
CA6124928 rs767757534 |
671 | A>P | No |
ClinGen ExAC |
|
|
rs1384659969 CA381449975 |
673 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1282267449 CA381449989 |
674 | L>P | No |
ClinGen gnomAD |
|
|
rs1340855547 CA381449992 |
675 | A>T | No |
ClinGen gnomAD |
|
|
CA6124929 rs750705073 |
677 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 678 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381450036 rs1268136969 |
679 | E>K | No |
ClinGen TOPMed |
|
|
rs1203903276 CA381450057 |
680 | E>K | No |
ClinGen gnomAD |
|
|
CA6124932 rs753918867 |
682 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381450090 rs1489511716 |
682 | M>V | No |
ClinGen gnomAD |
|
|
rs758425045 CA6124933 |
683 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1011099326 CA224076609 |
684 | G>E | No |
ClinGen Ensembl |
|
|
rs777786517 CA6124934 |
684 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375257311 CA224076634 |
686 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124937 rs375257311 |
686 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124936 rs371081325 |
686 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381450170 rs1190271569 |
688 | Q>* | No |
ClinGen gnomAD |
|
|
rs1351068216 CA381450195 |
689 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381450197 rs1169809511 |
690 | Q>K | No |
ClinGen TOPMed |
|
|
CA6124938 rs745576296 |
690 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769295218 CA6124939 |
691 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124940 rs775007171 |
692 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs966975541 CA224076643 |
694 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762379295 CA6124941 |
695 | Y>N | No |
ClinGen ExAC |
|
|
rs370343189 CA6124945 |
699 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6124944 rs370343189 |
699 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750713688 CA6124946 |
700 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124949 rs766651751 |
701 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760973896 CA6124948 |
701 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124950 rs200244682 |
702 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1485759820 CA381450373 |
703 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773565355 CA381450380 |
704 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773565355 CA6124951 |
704 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381450390 rs1162443851 |
705 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6124952 rs779124245 |
706 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381450406 rs1273910998 |
706 | H>Y | No |
ClinGen TOPMed |
|
|
CA6124954 rs757113506 |
711 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747575601 CA224076701 |
712 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6124955 rs747575601 |
712 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA381450502 rs1243854658 |
713 | L>P | No |
ClinGen gnomAD |
|
|
CA381450512 rs1590812170 |
714 | V>G | No |
ClinGen Ensembl |
|
|
rs1353334494 CA381450505 |
714 | V>M | No |
ClinGen TOPMed |
|
|
CA6124957 rs745604299 |
715 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124958 rs191891560 |
716 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA381450536 rs191891560 |
716 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6124959 rs748922825 |
717 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1415439771 CA381450571 |
718 | K>R | No |
ClinGen TOPMed |
|
|
rs768200266 CA224076733 |
719 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768200266 CA6124960 |
719 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6124961 rs773818534 |
720 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6124964 rs557548998 |
721 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6124965 rs528641441 |
722 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 725 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6124989 rs765511698 |
727 | I>S | No |
ClinGen ExAC |
|
|
rs372825946 CA6124990 |
728 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124991 rs577173358 |
728 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750373831 CA381450777 |
729 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6124993 rs750373831 |
729 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381450792 rs1223319861 |
730 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 730 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766191696 CA6124995 |
732 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369826688 CA224077055 |
733 | Q>L | No |
ClinGen ESP |
|
|
rs1426664824 CA381450861 |
736 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 737 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451688813 CA381450879 |
738 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6124997 rs753579084 |
740 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381450903 rs753579084 |
740 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372171270 CA6124998 |
740 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6124996 rs753579084 |
740 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125000 rs757904238 |
741 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777316808 CA381450924 |
742 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777316808 CA6125001 |
742 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125002 rs747560527 |
743 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771526492 CA6125003 |
743 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371778972 CA6125005 |
744 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125004 rs781709791 |
744 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305151578 CA381450981 |
746 | E>K | No |
ClinGen gnomAD |
|
|
rs770148768 CA6125006 |
748 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1250493543 CA381451055 |
749 | V>E | No |
ClinGen TOPMed |
|
|
CA224077079 rs556278635 |
751 | T>S | No |
ClinGen gnomAD |
|
|
CA6125008 rs763208690 |
752 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6125009 rs768655417 |
752 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125010 rs774446289 |
753 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6125012 rs574848604 |
754 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753634259 CA6125013 |
758 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149868156 CA6125014 |
760 | E>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs1490104628 CA381451240 |
761 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1229140121 CA381451250 |
761 | Q>R | No |
ClinGen TOPMed |
|
|
CA6125015 rs765069124 |
762 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6125018 rs377029613 |
763 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6125016 rs752342471 |
763 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA381451300 rs1369024192 |
764 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6125019 rs751068262 |
766 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs971298502 CA381451370 |
766 | R>L | No |
ClinGen TOPMed |
|
|
rs971298502 CA224077116 |
766 | R>Q | No |
ClinGen TOPMed |
|
|
CA381451383 rs1165609853 |
767 | A>V | No |
ClinGen gnomAD |
|
|
CA6125020 rs757856453 |
770 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs781739445 CA6125021 |
770 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs746360442 CA6125022 |
771 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381451499 rs1303282460 |
772 | F>S | No |
ClinGen TOPMed |
|
|
rs770102360 CA6125023 |
773 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1469091132 CA381451520 |
773 | D>N | No |
ClinGen TOPMed |
|
|
CA6125024 rs780433242 |
774 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6125025 rs749500787 |
774 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1229200641 CA381451660 |
776 | Q>* | No |
ClinGen gnomAD |
|
|
rs540874 CA381451665 |
776 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125042 rs540874 VAR_047529 |
776 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1349610642 CA381451706 |
778 | G>A | No |
ClinGen gnomAD |
|
|
CA224077170 rs907846090 |
778 | G>R | No |
ClinGen TOPMed |
|
|
CA224077175 rs1043778773 |
780 | M>V | No |
ClinGen Ensembl |
|
|
CA6125045 rs564580183 |
781 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380258387 CA381451786 |
781 | E>D | No |
ClinGen TOPMed |
|
|
CA224077176 rs551047804 |
781 | E>Q | No |
ClinGen 1000Genomes |
|
|
CA224077178 rs564580183 |
781 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779172352 CA6125046 |
783 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200377702 CA6125047 |
785 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125048 rs772189137 |
786 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114618009 CA6125049 |
786 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745825189 CA224077197 |
787 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6125050 rs745825189 |
787 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1012444011 CA224077202 |
789 | L>V | No |
ClinGen TOPMed |
|
|
CA224077204 rs750281694 |
790 | I>T | No |
ClinGen Ensembl |
|
|
CA6125051 rs374770413 |
793 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1040609893 CA224077211 |
795 | D>E | No |
ClinGen TOPMed |
|
|
CA6125052 rs775163785 |
795 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs775163785 CA381452091 |
795 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1478395517 CA381453225 |
797 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754295353 CA6125063 |
798 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs977404220 CA224079155 |
800 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA224079152 rs1126675 |
800 | E>K | No |
ClinGen Ensembl |
|
|
CA6125065 rs779227516 |
801 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs187702310 CA6125066 |
803 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125067 rs758580966 |
803 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381453353 rs1340913656 |
804 | I>L | No |
ClinGen gnomAD |
|
|
CA381453359 rs1340913656 |
804 | I>V | No |
ClinGen gnomAD |
|
|
rs553762010 CA6125069 |
805 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293390581 CA381453420 |
807 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1293390581 CA381453422 |
807 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA381453462 rs1301870596 |
810 | P>A | No |
ClinGen gnomAD |
|
|
CA6125071 rs775568184 |
810 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6125073 rs200846952 |
811 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367715133 CA6125075 |
812 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1488833955 CA381453514 |
813 | A>S | No |
ClinGen gnomAD |
|
|
rs1488833955 CA381453509 |
813 | A>T | No |
ClinGen gnomAD |
|
|
CA6125076 rs771790025 |
814 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125077 rs772599550 |
816 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs765793611 CA6125079 |
817 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754417486 CA381453589 |
817 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754417486 CA6125080 |
817 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA381453585 rs765793611 |
817 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6125082 rs765622658 |
818 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765622658 CA224079176 |
818 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125084 rs574813729 |
820 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6125085 rs371294094 |
821 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777908082 CA6125086 |
822 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1285706604 CA381453701 |
823 | D>A | No |
ClinGen gnomAD |
|
|
CA381453764 rs1356830994 |
825 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1590813345 CA381453780 |
826 | T>P | No |
ClinGen Ensembl |
|
|
rs757419685 CA6125088 |
827 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796903074 CA381453798 |
827 | R>P | No |
ClinGen TOPMed |
|
|
rs796903074 CA224079190 |
827 | R>Q | No |
ClinGen TOPMed |
|
|
CA6125089 rs781097155 |
828 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6125092 rs778858494 |
830 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 830 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374262572 CA6125091 |
830 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771981846 CA6125094 |
831 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 832 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6125095 rs772985621 |
833 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6125096 rs192669291 |
834 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775954878 CA6125098 |
835 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760065166 CA6125099 |
838 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1402224253 CA381454000 |
838 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1047345540 CA381454013 |
839 | V>A | No |
ClinGen gnomAD |
|
|
CA224079228 rs1047345540 |
839 | V>G | No |
ClinGen gnomAD |
|
|
rs1354852586 CA381454023 |
840 | A>P | No |
ClinGen TOPMed |
|
|
rs763363046 CA6125102 |
844 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs751842772 CA6125104 |
846 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA381454267 rs1224564830 |
850 | N>S | No |
ClinGen gnomAD |
|
|
CA381454291 rs1285741744 |
852 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762102870 CA6125122 |
852 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762102870 CA381454296 |
852 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381454292 rs1285741744 |
852 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1590813568 CA381454301 |
853 | T>P | No |
ClinGen Ensembl |
|
|
rs767579893 CA6125124 |
854 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6125126 rs199599736 |
855 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125127 rs199599736 |
855 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs763539773 | 855 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs116281147 CA6125128 |
856 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115296201 CA381454341 |
856 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386754438 CA224079339 |
856 | E>L | No |
ClinGen Ensembl |
|
|
rs115296201 CA6125129 |
856 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs551188851 CA224079357 |
858 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551188851 CA6125131 |
858 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125130 rs374545131 |
858 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs71457732 CA6125132 |
859 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369814936 CA6125134 |
859 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs71457732 CA6125133 |
859 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1411764603 CA381454363 |
860 | E>D | No |
ClinGen gnomAD |
|
|
rs372843748 CA6125135 |
860 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774954189 CA6125136 |
862 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749829838 CA6125137 |
863 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749829838 CA6125138 |
863 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224079382 rs377252716 |
864 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs908813230 CA224079384 |
865 | Q>* | No |
ClinGen Ensembl |
|
|
rs1305273898 CA381454391 |
865 | Q>R | No |
ClinGen gnomAD |
|
|
CA381454394 rs1336338807 |
866 | A>T | No |
ClinGen TOPMed |
|
|
CA224079388 rs920969631 |
867 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6125141 rs553485895 |
867 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125142 rs773610480 |
868 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381454447 rs370147618 |
869 | C>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs370147618 CA224079394 |
869 | C>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA381454471 rs1250236083 |
870 | I>N | No |
ClinGen gnomAD |
|
|
CA6125143 rs188208827 |
871 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125144 rs375737030 |
871 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6125145 rs753928982 |
872 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381454497 rs753928982 |
872 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125146 rs535878047 |
872 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535878047 CA381454503 |
872 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125147 rs763878511 |
874 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590813753 CA381454568 |
875 | P>L | No |
ClinGen Ensembl |
|
|
rs555990769 CA6125148 |
875 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6125151 rs374550441 CA6125150 |
880 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125152 rs193169026 |
881 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779547906 CA6125153 |
881 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125154 rs748740930 |
882 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6125157 rs748658589 |
883 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1315550275 CA381454704 |
884 | G>E | No |
ClinGen TOPMed |
|
|
CA6125159 rs371342586 |
885 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79516407 CA381454777 |
888 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381454789 rs1359559734 |
889 | V>A | No |
ClinGen gnomAD |
|
|
CA6125161 rs540771729 |
889 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125162 rs540771729 |
889 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs776862660 CA6125163 |
892 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6125165 rs201576110 |
895 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287647515 CA381454904 |
895 | L>P | No |
ClinGen TOPMed |
|
|
rs1287647515 CA381454907 |
895 | L>R | No |
ClinGen TOPMed |
|
|
rs765353192 CA6125166 |
896 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs751488881 CA6125168 |
900 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368116977 CA6125169 |
901 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q08043
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| pseudopodium | A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| identical protein binding | Binding to an identical protein or proteins. |
| integrin binding | Binding to an integrin. |
| structural constituent of muscle | The action of a molecule that contributes to the structural integrity of a muscle fiber. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| actin 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 actin filaments and their associated proteins. |
| bone morphogenesis | The process in which bones are generated and organized. |
| focal adhesion assembly | The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| negative regulation of calcineurin-NFAT signaling cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of the calcineurin-NFAT signaling cascade. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| negative regulation of glycolytic process | Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. |
| negative regulation of oxidative phosphorylation | Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. |
| negative regulation of relaxation of muscle | Any process that stops, prevents or reduces the frequency, rate or extent of relaxation of muscle. |
| positive regulation of bone mineralization involved in bone maturation | Any process that activates or increases the frequency, rate or extent of bone mineralization involved in bone maturation. |
| positive regulation of fast-twitch skeletal muscle fiber contraction | Any process that activates or increases the frequency, rate or extent of fast-twitch skeletal muscle contraction. |
| positive regulation of glucose catabolic process to lactate via pyruvate | Any process that activates or increases the frequency, rate or extent of glucose catabolic process to lactate via pyruvate. |
| positive regulation of skeletal muscle fiber development | Any process that activates, maintains or increases the rate of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. |
| positive regulation of skeletal muscle tissue growth | Any process that activates, maintains or increases the rate of skeletal muscle growth. |
| regulation of aerobic respiration | Any process that modulates the frequency, rate or extent of aerobic respiration. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of the force of skeletal muscle contraction | Any process that modulates the frequency, rate or extent of the force of skeletal muscle contraction. The force of skeletal muscle contraction is produced by acto-myosin interaction processes through the formation of cross bridges. |
| response to denervation involved in regulation of muscle adaptation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a denervation stimulus. This process occurs as part of the regulation of muscle adaptation. |
| skeletal muscle atrophy | A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. |
| transition between fast and slow fiber | The process of conversion of fast-contracting muscle fibers to a slower character. This may involve slowing of contractile rate, slow myosin gene induction, increase in oxidative metabolic properties, altered electrophysiology and altered innervation. This process also regulates skeletal muscle adapatation. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3ZC55 | ACTN2 | Alpha-actinin-2 | Bos taurus (Bovine) | SS |
| A5D7D1 | ACTN4 | Alpha-actinin-4 | Bos taurus (Bovine) | SS |
| Q3B7N2 | ACTN1 | Alpha-actinin-1 | Bos taurus (Bovine) | SS |
| Q0III9 | ACTN3 | Alpha-actinin-3 | Bos taurus (Bovine) | SS |
| Q90734 | ACTN4 | Alpha-actinin-4 | Gallus gallus (Chicken) | SS |
| P20111 | ACTN2 | Alpha-actinin-2 | Gallus gallus (Chicken) | SS |
| P05094 | ACTN1 | Alpha-actinin-1 | Gallus gallus (Chicken) | SS |
| P18091 | Actn | Alpha-actinin, sarcomeric | Drosophila melanogaster (Fruit fly) | SS |
| O15020 | SPTBN2 | Spectrin beta chain, non-erythrocytic 2 | Homo sapiens (Human) | PR |
| P11277 | SPTB | Spectrin beta chain, erythrocytic | Homo sapiens (Human) | PR |
| Q01082 | SPTBN1 | Spectrin beta chain, non-erythrocytic 1 | Homo sapiens (Human) | PR |
| P35609 | ACTN2 | Alpha-actinin-2 | Homo sapiens (Human) | EV |
| O43707 | ACTN4 | Alpha-actinin-4 | Homo sapiens (Human) | SS |
| P12814 | ACTN1 | Alpha-actinin-1 | Homo sapiens (Human) | SS |
| Q7TPR4 | Actn1 | Alpha-actinin-1 | Mus musculus (Mouse) | SS |
| P57780 | Actn4 | Alpha-actinin-4 | Mus musculus (Mouse) | SS |
| Q9JI91 | Actn2 | Alpha-actinin-2 | Mus musculus (Mouse) | SS |
| O88990 | Actn3 | Alpha-actinin-3 | Mus musculus (Mouse) | SS |
| Q9QXQ0 | Actn4 | Alpha-actinin-4 | Rattus norvegicus (Rat) | SS |
| Q9Z1P2 | Actn1 | Alpha-actinin-1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMMVMQPEGL | GAGEGRFAGG | GGGGEYMEQE | EDWDRDLLLD | PAWEKQQRKT | FTAWCNSHLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAGTQIENIE | EDFRNGLKLM | LLLEVISGER | LPRPDKGKMR | FHKIANVNKA | LDFIASKGVK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVSIGAEEIV | DGNLKMTLGM | IWTIILRFAI | QDISVEETSA | KEGLLLWCQR | KTAPYRNVNV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QNFHTSWKDG | LALCALIHRH | RPDLIDYAKL | RKDDPIGNLN | TAFEVAEKYL | DIPKMLDAED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IVNTPKPDEK | AIMTYVSCFY | HAFAGAEQAE | TAANRICKVL | AVNQENEKLM | EEYEKLASEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEWIRRTVPW | LENRVGEPSM | SAMQRKLEDF | RDYRRLHKPP | RIQEKCQLEI | NFNTLQTKLR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSHRPAFMPS | EGKLVSDIAN | AWRGLEQVEK | GYEDWLLSEI | RRLQRLQHLA | EKFRQKASLH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EAWTRGKEEM | LSQRDYDSAL | LQEVRALLRR | HEAFESDLAA | HQDRVEHIAA | LAQELNELDY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HEAASVNSRC | QAICDQWDNL | GTLTQKRRDA | LERMEKLLET | IDRLQLEFAR | RAAPFNNWLD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GAVEDLQDVW | LVHSVEETQS | LLTAHDQFKA | TLPEADRERG | AIMGIQGEIQ | KICQTYGLRP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CSTNPYITLS | PQDINTKWDM | VRKLVPSCDQ | TLQEELARQQ | VNERLRRQFA | AQANAIGPWI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QAKVEEVGRL | AAGLAGSLEE | QMAGLRQQEQ | NIINYKTNID | RLEGDHQLLQ | ESLVFDNKHT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VYSMEHIRVG | WEQLLTSIAR | TINEVENQVL | TRDAKGLSQE | QLNEFRASFN | HFDRKQNGMM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EPDDFRACLI | SMGYDLGEVE | FARIMTMVDP | NAAGVVTFQA | FIDFMTRETA | ETDTTEQVVA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SFKILAGDKN | YITPEELRRE | LPAKQAEYCI | RRMVPYKGSG | APAGALDYVA | FSSALYGESD |
| L |