Q9GZR7
PR
Gene name |
DDX24 |
Protein name |
ATP-dependent RNA helicase DDX24 |
Names |
DEAD box protein 24 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57062 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9GZR7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9GZR7-F1 | Predicted | AlphaFoldDB |
721 variants for Q9GZR7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7325172 rs561362842 |
2 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7325170 rs751409503 |
4 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs777674310 CA7325169 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7325168 rs142609376 |
11 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573061631 CA7325167 |
11 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1446424528 CA390846655 |
12 | Q>* | No |
gnomAD ClinGen |
|
|
rs913256704 CA265847140 |
13 | S>L | No |
ClinGen TOPMed |
|
|
CA7325166 rs79048773 |
14 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA390846626 rs1336664848 |
15 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390846610 rs1415714654 |
16 | G>D | No |
ClinGen gnomAD |
|
|
CA7325165 rs760863735 |
18 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs1172451101 CA390846520 |
22 | G>* | No |
ClinGen gnomAD |
|
|
CA390846515 rs1567063604 |
22 | G>V | No |
ClinGen Ensembl |
|
|
CA7325164 rs750443679 |
24 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA390846471 rs1387278670 |
25 | V>D | No |
ClinGen TOPMed |
|
|
rs1186869103 CA390846478 |
25 | V>I | No |
TOPMed ClinGen |
|
|
rs192666048 CA7325162 |
33 | K>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs11549779 CA265847067 |
33 | K>R | No |
Ensembl ClinGen |
|
|
rs774721070 CA7325161 |
34 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7325159 rs763198073 |
35 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1440611276 CA390846011 |
36 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
CA390846014 rs1440611276 |
36 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1278082175 CA390846004 |
37 | N>H | No |
ClinGen gnomAD |
|
|
rs1217434844 CA390845997 |
37 | N>S | No |
ClinGen gnomAD |
|
|
CA7325158 rs776132496 |
38 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390845988 rs1364128760 |
38 | M>V | No |
TOPMed ClinGen |
|
|
CA265847027 rs778824987 |
39 | F>I | No |
ClinGen TOPMed |
|
|
CA265846990 rs770192297 |
41 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7325157 rs770192297 |
41 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs745387045 CA7325156 |
42 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs776217886 CA7325155 |
44 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7325154 rs770741513 |
45 | D>N | No |
ExAC TOPMed ClinGen |
|
|
CA390845896 rs1286289725 |
47 | L>V | No |
ClinGen gnomAD |
|
|
rs1446525629 CA390845886 |
48 | V>L | No |
gnomAD ClinGen |
|
|
CA265846972 rs755217737 |
50 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs937608351 CA265846966 |
52 | E>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1464872662 CA390845826 |
53 | L>W | No |
TOPMed ClinGen |
|
|
CA390845799 rs1245417530 |
56 | Y>N | No |
ClinGen TOPMed |
|
|
rs368793373 CA7325152 |
57 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399922749 CA390845741 |
61 | P>L | No |
ClinGen gnomAD |
|
|
CA390845735 rs1414303033 |
62 | A>V | No |
gnomAD ClinGen |
|
|
rs148196758 CA7325149 |
63 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7325148 rs754842358 |
64 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA390845702 rs1194497667 |
65 | P>L | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 68 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265846947 rs11549778 |
70 | S>P | No |
ClinGen Ensembl |
|
|
CA390845612 rs1338455955 |
74 | P>R | No |
ClinGen TOPMed |
|
|
rs144641117 CA7325147 |
74 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767535454 CA7325146 |
76 | R>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390845579 rs1446761247 |
77 | K>R | No |
TOPMed ClinGen |
|
|
CA390845564 rs1292542919 |
78 | A>V | No |
gnomAD ClinGen |
|
|
CA7325144 rs751819697 |
79 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA390845546 rs1374827368 |
80 | A>G | No |
ClinGen TOPMed |
|
|
CA7325143 rs764220406 |
81 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1048415113 CA265846897 |
82 | S>A | No |
TOPMed ClinGen |
|
|
rs763434985 CA7325142 |
82 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs140929733 CA265846864 |
84 | E>G | No |
ClinGen ESP gnomAD |
|
|
rs1287212525 CA390845498 |
84 | E>K | No |
TOPMed ClinGen |
|
| TCGA novel | 86 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765781147 CA7325140 |
86 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 86 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 88 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7325135 rs770602333 |
91 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA390845360 rs770602333 |
91 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs772973355 CA7325134 |
92 | S>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7325131 rs146840721 |
92 | S>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7325132 rs146840721 |
92 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs772973355 CA7325133 |
92 | S>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778532430 CA7325130 |
94 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA265846798 rs896808861 |
95 | P>R | No |
ClinGen Ensembl |
|
|
CA7325129 rs749273234 |
98 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749273234 CA7325128 |
98 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757397364 CA7325126 |
100 | K>M | No |
ExAC gnomAD ClinGen |
|
|
CA390845207 rs1425548486 |
100 | K>Q | No |
ClinGen TOPMed |
|
|
CA7325125 rs751579341 |
101 | L>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390845153 rs1233054977 |
102 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1451343000 CA390845049 |
106 | N>S | No |
gnomAD ClinGen |
|
|
CA7325122 rs145128210 |
107 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7325123 rs758485103 |
107 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765653576 CA7325121 |
108 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1213412949 CA390844988 |
111 | G>R | No |
gnomAD ClinGen |
|
|
CA390844966 rs1367887699 |
112 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1367887699 CA390844970 |
112 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7325119 rs559250621 |
113 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390844937 rs1227029109 |
114 | T>I | No |
ClinGen TOPMed |
|
|
CA7325117 rs61757452 |
115 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs985946515 CA390844922 |
115 | Q>P | No |
TOPMed gnomAD ClinGen |
|
|
rs985946515 CA265846717 |
115 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs367754954 CA7325116 |
116 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390844863 rs1169831067 |
118 | F>S | No |
gnomAD ClinGen |
|
|
rs761322907 CA7325114 |
119 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs201253447 CA7325113 |
120 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7325112 rs768480164 |
121 | K>T | No |
ExAC gnomAD ClinGen |
|
|
CA7325111 rs199579251 |
124 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA390844735 rs1239217286 |
125 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7325110 rs145433649 |
127 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374477204 CA7325108 |
128 | Q>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374477204 CA390844691 |
128 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200272754 CA7325107 |
129 | G>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA390844670 rs1302729814 |
130 | D>G | No |
gnomAD ClinGen |
|
|
rs752914816 CA7325106 |
131 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs752914816 CA7325105 |
131 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA390844648 rs1201449291 |
132 | M>K | No |
ClinGen TOPMed |
|
|
CA390844652 rs1369772767 |
132 | M>V | No |
ClinGen gnomAD |
|
|
rs1448635179 CA390844594 |
137 | P>A | No |
gnomAD ClinGen |
|
|
CA7325103 rs755447680 |
137 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390844593 rs1448635179 |
137 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7325101 rs766994382 |
138 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA390844574 rs1477686108 |
139 | A>P | No |
TOPMed ClinGen |
|
|
CA7325099 rs749970534 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7325097 rs761355397 |
142 | M>I | No |
ExAC gnomAD ClinGen |
|
|
rs766985029 CA7325098 |
142 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1170578527 CA390844521 |
144 | S>A | No |
TOPMed ClinGen |
|
| TCGA novel | 144 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967455235 CA265846518 |
145 | E>G | No |
TOPMed ClinGen |
|
|
rs576058598 CA7325095 |
146 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769756834 CA7325092 |
149 | Q>H | No |
ExAC ClinGen |
|
|
CA7325093 rs775201456 |
149 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7325091 rs745747409 |
151 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA390844433 rs1208096964 |
153 | K>E | No |
gnomAD ClinGen |
|
| TCGA novel | 156 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150062400 CA7325090 |
157 | N>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 158 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7325088 rs748243329 |
160 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs371105431 CA7325086 |
161 | K>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs148489393 CA7325085 |
162 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1381233216 CA390844325 |
162 | G>R | No |
ClinGen gnomAD |
|
|
rs148489393 CA390844318 |
162 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs750934222 CA7325082 |
163 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA7325081 rs768064260 |
164 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1290750644 CA390844267 |
167 | Q>E | No |
TOPMed ClinGen |
|
|
CA265846427 rs888744057 |
168 | S>G | No |
ClinGen TOPMed |
|
|
rs756776187 CA7325080 |
170 | A>P | No |
ExAC gnomAD ClinGen |
|
|
CA390844228 rs1595381938 |
170 | A>V | No |
ClinGen Ensembl |
|
|
CA390844195 rs1426146377 |
175 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs911293130 CA265846416 |
175 | K>R | No |
ClinGen gnomAD |
|
|
rs1185178053 CA390844180 |
177 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7325078 rs145620061 |
177 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA390844167 rs1218383659 |
179 | T>A | No |
gnomAD ClinGen |
|
|
CA265846409 rs994397993 |
179 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390844152 rs1259983612 |
181 | I>F | No |
gnomAD ClinGen |
|
|
CA265846373 rs897152614 |
182 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs11549776 CA265846402 |
182 | P>S | No |
ClinGen Ensembl |
|
|
CA390844137 rs1245234602 |
183 | E>D | No |
ClinGen gnomAD |
|
|
CA390844134 rs1257903495 |
184 | V>L | No |
gnomAD ClinGen |
|
| TCGA novel | 185 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390844126 rs1389398208 |
185 | H>R | No |
ClinGen TOPMed |
|
|
CA7325076 rs775289716 |
186 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764994941 CA7325075 |
189 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390844092 rs1209715322 |
190 | D>H | No |
gnomAD ClinGen |
|
|
rs546857248 CA265846355 |
193 | A>S | No |
1000Genomes gnomAD ClinGen |
|
|
rs546857248 CA390844073 |
193 | A>T | No |
1000Genomes gnomAD ClinGen |
|
|
CA7325073 rs776486796 |
197 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390844021 rs1297391510 |
198 | F>S | No |
ClinGen TOPMed |
|
|
CA265846321 rs952641002 |
199 | V>I | No |
Ensembl ClinGen |
|
|
CA265846316 rs1026844550 |
201 | R>M | No |
gnomAD ClinGen |
|
|
rs1164204541 CA390843988 |
201 | R>S | No |
ClinGen gnomAD |
|
|
CA390843977 rs1247341909 |
203 | V>I | No |
TOPMed ClinGen |
|
|
rs1274665922 CA390843964 |
204 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1367256774 CA390843959 |
205 | R>G | No |
gnomAD ClinGen |
|
|
rs748177362 CA390843956 |
205 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7325071 rs748177362 |
205 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390843952 rs1478415337 |
206 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA390843939 rs1195190776 |
207 | L>F | No |
gnomAD ClinGen |
|
|
CA390843940 rs1195190776 |
207 | L>V | No |
ClinGen gnomAD |
|
|
CA390843930 rs1260540705 |
208 | S>G | No |
gnomAD ClinGen |
|
|
rs1286292312 CA390843915 |
209 | F>S | No |
TOPMed ClinGen |
|
|
CA390843909 rs1210239167 |
210 | L>P | No |
gnomAD ClinGen |
|
| TCGA novel | 210 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265846288 rs758239200 |
211 | G>V | No |
Ensembl ClinGen |
|
|
CA390843896 rs1465318335 |
212 | F>C | No |
TOPMed ClinGen |
|
|
CA390843889 rs1271008533 |
213 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1271008533 CA390843888 |
213 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
rs202205212 CA7325070 |
214 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373256834 CA390843864 |
218 | I>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs373256834 CA7325069 |
218 | I>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7325068 rs373256834 |
218 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390843847 rs1214697184 |
220 | A>V | No |
ClinGen gnomAD |
|
|
CA390843841 rs1567063206 |
221 | L>R | No |
Ensembl ClinGen |
|
|
CA7325064 rs781564475 |
222 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs746232014 CA7325065 |
222 | T>S | No |
ExAC gnomAD ClinGen |
|
|
CA390843837 rs781564475 |
222 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7325063 rs757718368 |
224 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1466654346 CA390843819 |
225 | P>S | No |
gnomAD ClinGen |
|
|
rs752303726 CA265846244 |
227 | I>L | No |
ClinGen Ensembl |
|
|
CA7325062 rs757884784 |
228 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA7325060 rs757884784 |
228 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7325059 rs764925566 |
228 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA7325058 rs764925566 |
228 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7325061 rs757884784 |
228 | R>S | No |
ExAC gnomAD ClinGen |
|
|
rs776417461 CA7325057 |
229 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1391444415 CA390843795 |
230 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA7325055 rs766255852 |
231 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1320303297 CA390843780 |
232 | D>G | No |
ClinGen TOPMed |
|
|
CA390843783 rs760638468 |
232 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA7325054 rs760638468 |
232 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA390843768 rs1357771122 |
234 | L>V | No |
ClinGen gnomAD |
|
|
rs768895351 CA7325052 |
236 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390843747 rs1335129924 |
237 | A>V | No |
ClinGen TOPMed |
|
|
CA390842051 rs1241372019 |
243 | K>T | No |
ClinGen gnomAD |
|
|
CA7325032 rs760513864 |
245 | L>I | No |
ExAC gnomAD ClinGen |
|
|
rs750452468 CA7325031 |
246 | A>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 247 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444858236 CA390842020 |
247 | F>S | No |
ClinGen TOPMed |
|
|
rs1334251034 CA390842012 |
248 | A>V | No |
gnomAD ClinGen |
|
|
CA390842006 rs1298897561 |
249 | I>T | No |
TOPMed ClinGen |
|
|
CA390842009 rs1435981130 |
249 | I>V | No |
ClinGen gnomAD |
|
|
rs767548314 CA7325030 |
250 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201380632 CA7325029 |
251 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7325028 rs369157237 |
253 | H>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs769942569 CA7325027 |
253 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7325026 rs759757010 |
254 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs771330546 CA7325024 |
257 | Q>L | No |
ExAC gnomAD ClinGen |
|
|
CA7325023 rs374838803 |
258 | W>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7325022 rs778262085 |
259 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA265834352 rs567188387 |
263 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1282679266 CA390841909 |
264 | A>T | No |
gnomAD ClinGen |
|
|
CA7325018 rs754417796 |
265 | P>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 265 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286421506 CA390841890 |
267 | P>S | No |
ClinGen gnomAD |
|
|
rs562025249 CA265834340 |
268 | S>G | No |
ClinGen gnomAD |
|
|
CA7325016 rs554839405 |
268 | S>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs554839405 CA7325017 |
268 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs904836124 CA265834331 |
269 | N>D | No |
TOPMed gnomAD ClinGen |
|
|
CA7325015 rs183380698 |
270 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183380698 CA7325014 |
270 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149296999 CA7325012 |
271 | E>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA390841863 rs1315961652 |
272 | A>T | No |
ClinGen gnomAD |
|
|
rs910394217 CA265834296 |
275 | G>E | No |
Ensembl ClinGen |
|
|
rs765396193 CA7325010 |
275 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7325008 rs776965539 |
276 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA7325007 rs771134149 |
278 | R>T | No |
ExAC gnomAD ClinGen |
|
|
CA390841806 rs1486975316 |
281 | A>T | No |
gnomAD ClinGen |
|
|
CA7325005 rs576570786 |
282 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61737407 CA7325004 |
284 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7325003 rs748732024 |
287 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1228158973 CA390841764 |
288 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390841758 rs1371756920 |
289 | G>C | No |
ClinGen TOPMed |
|
|
CA390841754 rs1232051249 |
290 | K>E | No |
gnomAD ClinGen |
|
|
CA265834245 rs373390382 |
293 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA390841722 rs1363651660 |
294 | E>D | No |
gnomAD ClinGen |
|
|
CA7325001 rs768272485 |
294 | E>V | No |
ExAC gnomAD ClinGen |
|
|
rs1267992145 CA390841716 |
295 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7325000 rs748743559 |
296 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7324999 rs531814423 |
299 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459874599 CA390841680 |
301 | D>H | No |
gnomAD ClinGen |
|
|
rs1459874599 CA390841681 |
301 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1171494004 CA390841589 |
303 | V>G | No |
ClinGen gnomAD |
|
|
rs781092629 CA7324996 |
306 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs757085654 CA7324995 |
309 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1255347396 CA390841515 |
310 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs912146006 CA265834211 |
311 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA265834206 rs36082609 |
311 | S>I | No |
ClinGen Ensembl |
|
|
rs1198749925 CA390841480 |
313 | I>M | No |
gnomAD ClinGen |
|
|
rs74332027 CA265834200 |
313 | I>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs74332027 CA7324994 |
313 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs953527153 CA265834187 |
314 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA390841454 rs1305367305 |
316 | E>A | No |
ClinGen gnomAD |
|
|
CA7324991 rs35413935 VAR_052162 |
316 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs138366863 CA7324990 |
317 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390841446 rs1438370128 |
317 | A>T | No |
ClinGen gnomAD |
|
|
rs199917054 CA7324989 |
320 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324988 rs200966866 |
321 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415325463 CA390841381 |
322 | G>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1415325463 CA390841383 |
322 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1169808116 CA390841389 |
322 | G>R | No |
gnomAD ClinGen |
|
|
rs1397048110 CA390841373 |
323 | G>D | No |
ClinGen gnomAD |
|
|
CA265834065 rs188024261 |
324 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1454069595 CA390841359 |
324 | T>I | No |
gnomAD ClinGen |
|
|
rs748844405 CA390841342 |
326 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs768978380 CA7324984 |
326 | S>A | No |
ExAC gnomAD ClinGen |
|
|
CA7324983 rs748844405 |
326 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA265834046 rs754398666 |
327 | D>N | No |
Ensembl ClinGen |
|
|
rs775090565 CA7324982 |
329 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs775090565 CA390841312 |
329 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs1460975526 CA390841309 |
329 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA265834024 rs1035370049 |
330 | L>W | No |
TOPMed ClinGen |
|
|
rs1203131134 CA390841295 |
332 | F>L | No |
ClinGen gnomAD |
|
|
CA265834019 rs1043048133 |
333 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
CA390841283 rs1231849689 |
334 | D>N | No |
gnomAD ClinGen |
|
|
rs368602901 CA7324979 |
335 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA7324978 rs371016497 |
337 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs945373483 CA265834009 |
341 | P>T | No |
Ensembl ClinGen |
|
|
CA7324977 rs746772838 |
342 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7324975 rs545120503 |
343 | S>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs545120503 CA265834004 |
343 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7324972 rs750704452 |
345 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7324973 rs766488879 |
345 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762243901 CA7324969 |
349 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1417862298 CA390841137 |
349 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1048712718 CA265833946 |
350 | V>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1048712718 CA390841131 |
350 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA265833926 rs781711019 |
351 | P>A | No |
Ensembl ClinGen |
|
|
CA7324967 rs376492286 |
353 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7324966 rs763329050 |
354 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208346259 CA390841079 |
354 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs776107003 CA390841061 |
355 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs142441892 CA7324964 |
357 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA7324962 rs759101546 |
359 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs770419367 CA7324960 |
360 | N>K | No |
ExAC gnomAD ClinGen |
|
|
CA390841000 rs1357489480 |
360 | N>T | No |
gnomAD ClinGen |
|
| TCGA novel | 361 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7324958 rs777395033 |
363 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7324957 rs771873044 |
365 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401395274 CA390840960 |
365 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 366 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150156596 CA7324956 |
366 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150156596 CA390840955 |
366 | T>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1166161649 CA390840942 |
368 | N>I | No |
gnomAD ClinGen |
|
|
rs1166161649 CA390840944 |
368 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419460675 CA390840932 |
370 | K>Q | No |
ClinGen gnomAD |
|
|
rs930484982 CA265833864 |
371 | Q>K | No |
Ensembl ClinGen |
|
|
rs112476185 CA7324954 |
372 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs972392204 CA265833850 |
374 | D>G | No |
gnomAD ClinGen |
|
|
rs1206691947 CA390840886 |
376 | K>E | No |
ClinGen gnomAD |
|
|
CA265833847 rs971050812 |
376 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7324952 rs200980599 |
378 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1307326101 CA390840851 |
380 | C>S | No |
gnomAD ClinGen |
|
|
CA7324950 rs751983722 |
381 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7324948 rs763353114 |
383 | Y>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753312058 CA7324947 |
384 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA7324946 rs141018929 |
386 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7324945 rs759118176 |
386 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7324943 rs770652821 |
387 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776219643 CA7324944 |
387 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390840789 rs760289255 |
390 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7324942 rs760289255 |
390 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1194925200 CA390840733 |
397 | R>* | No |
TOPMed gnomAD ClinGen |
|
|
rs1194925200 CA390840732 |
397 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA7324941 rs772902168 |
397 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs145363454 CA7324939 |
401 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1469778999 CA390840689 |
402 | Q>E | No |
gnomAD ClinGen |
|
|
CA390840686 rs1346752481 |
402 | Q>R | No |
ClinGen gnomAD |
|
|
rs1271146487 CA390840662 |
404 | K>R | No |
gnomAD ClinGen |
|
|
CA265833766 rs1040351277 |
405 | Q>H | No |
Ensembl ClinGen |
|
|
CA7324938 rs778828360 |
406 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA265833763 rs763397266 |
406 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1159646975 CA390840635 |
407 | I>V | No |
ClinGen gnomAD |
|
|
rs369471355 CA7324937 |
408 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324936 rs557174725 |
408 | D>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA7324935 rs781092939 |
409 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA390840584 rs1158130398 |
412 | R>K | No |
TOPMed ClinGen |
|
|
rs1443489393 CA390840569 |
413 | F>L | No |
ClinGen gnomAD |
|
|
rs774083962 CA7324921 |
416 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768611363 CA7324920 |
418 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749263206 CA7324919 |
420 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA265833080 rs878981279 |
422 | V>G | No |
ClinGen Ensembl |
|
|
rs533177297 CA7324918 |
422 | V>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA7324917 rs369870320 |
423 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234475535 CA390839963 |
425 | M>I | No |
ClinGen gnomAD |
|
|
rs1470473141 CA390839977 |
425 | M>V | No |
gnomAD ClinGen |
|
|
CA390839954 rs1442102844 |
426 | S>C | No |
TOPMed ClinGen |
|
|
CA390839962 rs1179772589 |
426 | S>T | No |
ClinGen gnomAD |
|
|
rs898594332 CA7324915 |
427 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1037052745 CA390839931 |
428 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1213351503 CA390839909 |
430 | Q>* | No |
ClinGen gnomAD |
|
|
CA7324911 rs200686543 |
435 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390839843 rs1224630838 |
435 | N>S | No |
ClinGen gnomAD |
|
|
rs779464481 CA7324910 |
436 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779464481 CA390839825 |
436 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7324909 rs755376189 |
437 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7324907 rs766908609 |
437 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7324908 rs766908609 |
437 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7324906 rs755584756 |
438 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA390839779 rs1373174060 |
439 | E>D | No |
gnomAD ClinGen |
|
|
rs1416317268 CA390839795 |
439 | E>K | No |
gnomAD ClinGen |
|
|
CA265833013 rs763835363 |
441 | V>M | No |
ClinGen Ensembl |
|
|
rs749892903 CA7324905 |
443 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1050538382 CA265833007 |
444 | T>S | No |
ClinGen gnomAD |
|
|
CA7324904 rs767179632 |
445 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7324902 rs143799651 |
447 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324903 rs761415669 |
447 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 449 | W>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265832984 rs77493762 |
450 | E>G | No |
ClinGen Ensembl |
|
|
rs1190147208 CA390839603 |
452 | I>V | No |
ClinGen gnomAD |
|
|
rs1474350837 CA390839525 |
455 | K>N | No |
ClinGen gnomAD |
|
|
rs756959259 CA390839518 |
456 | H>P | No |
TOPMed ClinGen |
|
|
rs756959259 CA265832980 |
456 | H>R | No |
ClinGen TOPMed |
|
|
rs1445409722 CA390839520 |
456 | H>Y | No |
TOPMed ClinGen |
|
|
rs1257019637 CA390839491 |
458 | H>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1257019637 CA390839493 |
458 | H>R | No |
TOPMed gnomAD ClinGen |
|
|
CA390839470 rs1236916409 |
460 | R>K | No |
TOPMed ClinGen |
|
|
rs149012377 CA7324901 CA265832975 |
461 | N>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA390839451 rs1449138375 |
462 | L>F | No |
ClinGen gnomAD |
|
|
rs769703503 CA7324898 |
463 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed ClinGen NCI-TCGA |
|
rs201694454 CA7324899 |
463 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA7324897 rs747069141 |
464 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336106585 CA390839407 |
465 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
CA265832963 rs554176734 |
466 | R>G | No |
Ensembl ClinGen |
|
|
CA7324877 rs776692238 |
467 | C>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7324876 rs772339953 |
467 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs547311838 CA7324875 |
468 | L>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs768943952 CA7324874 |
469 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768943952 CA7324873 |
469 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157301204 CA390839326 |
471 | D>V | No |
TOPMed ClinGen |
|
| TCGA novel | 474 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 474 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390839289 rs1314350143 |
474 | D>Y | No |
ClinGen gnomAD |
|
|
rs770024404 CA7324871 |
475 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373668422 CA390839278 |
475 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373668422 CA7324869 |
475 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770024404 CA7324870 |
475 | R>W | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7324867 rs528961796 |
477 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390839251 rs1245690888 |
477 | V>G | No |
ClinGen gnomAD |
|
|
CA390839256 rs528961796 |
477 | V>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA390839217 rs1309867626 |
481 | H>Y | No |
TOPMed ClinGen |
|
|
CA390839187 rs1376151076 |
485 | L>F | No |
TOPMed ClinGen |
|
|
rs777413831 CA7324865 |
486 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1019501975 CA265832614 |
488 | L>P | No |
ClinGen Ensembl |
|
|
rs758015111 CA7324864 |
489 | L>R | No |
ExAC gnomAD ClinGen |
|
|
CA265832600 rs1007823636 |
490 | E>G | No |
TOPMed ClinGen |
|
|
CA265832603 rs900320958 |
490 | E>Q | No |
TOPMed ClinGen |
|
|
rs1481295578 CA390839151 |
491 | M>I | No |
ClinGen TOPMed |
|
|
rs199686333 CA7324863 |
491 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7324862 rs765132626 |
492 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390839147 rs765132626 |
492 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs61737408 CA7324860 |
493 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs549715925 CA7324859 |
495 | S>F | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1435543477 CA390839121 |
496 | Q>* | No |
ClinGen gnomAD |
|
|
rs1397331627 CA390839106 |
498 | N>D | No |
gnomAD ClinGen |
|
|
CA7324857 rs147886750 |
499 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768792330 CA7324856 |
500 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390839091 rs1409279372 |
500 | K>R | No |
ClinGen gnomAD |
|
|
CA390839080 rs1177295119 |
502 | Q>K | No |
ClinGen gnomAD |
|
|
CA7324855 rs763276750 |
503 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467240862 CA390839063 |
504 | L>P | No |
TOPMed ClinGen |
|
|
CA265832572 rs898279263 |
505 | V>L | No |
Ensembl ClinGen |
|
| TCGA novel | 507 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 508 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390839031 rs1282210769 |
509 | T>I | No |
gnomAD ClinGen |
|
|
CA7324852 rs746212702 |
510 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs374473496 CA7324851 |
511 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA265832564 rs928387922 |
511 | T>S | No |
TOPMed ClinGen |
|
|
rs140803604 CA7324849 |
512 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1037856228 CA265832558 |
513 | V>M | No |
Ensembl ClinGen |
|
|
CA7324847 rs770854738 |
514 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390839004 rs1308959883 |
515 | Q>E | No |
ClinGen TOPMed |
|
|
CA265832552 rs948917668 |
515 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 516 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7324845 rs778430303 |
516 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754809380 CA390838992 |
517 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567058691 CA390838989 |
517 | P>L | No |
ClinGen Ensembl |
|
|
rs754809380 CA7324844 |
517 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs11549777 CA265832533 |
518 | A>V | No |
ClinGen Ensembl |
|
|
CA390838982 rs1489002184 |
519 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1191042383 CA390838981 |
519 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756080788 CA7324841 |
522 | H>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 523 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750354711 CA7324840 |
527 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390838909 rs370449400 |
529 | M>R | No |
ESP TOPMed ClinGen |
|
|
CA265832498 rs370449400 |
529 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA265832484 rs78265147 |
530 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 531 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762927787 CA7324838 |
532 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs775846263 CA7324837 |
534 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765309800 CA7324836 |
535 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1435491861 CA390838863 |
536 | D>G | No |
TOPMed ClinGen |
|
|
CA390838866 rs1482826039 |
536 | D>H | No |
TOPMed gnomAD ClinGen |
|
|
CA7324835 rs759905792 |
539 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1326984098 CA390838833 |
540 | Q>H | No |
ClinGen gnomAD |
|
|
CA390838828 rs1287812857 |
541 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390838810 rs938629339 CA265832463 |
544 | M>L | No |
ClinGen gnomAD |
|
|
CA7324833 rs771455114 |
546 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1363167508 CA390838768 |
550 | V>I | No |
ClinGen gnomAD |
|
|
rs773582445 CA7324831 |
551 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA265832448 rs377234496 |
552 | D>N | No |
ClinGen ESP |
|
|
CA390838739 rs1388481071 |
554 | T>R | No |
gnomAD ClinGen |
|
|
CA265832444 rs927271216 |
555 | R>G | No |
ClinGen Ensembl |
|
|
CA7324827 rs201724101 |
555 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs201724101 CA7324828 |
555 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs186275594 CA7324826 |
556 | N>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1422861687 CA390838726 |
557 | E>K | No |
gnomAD ClinGen |
|
|
rs181598492 CA7324823 |
559 | T>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7324821 rs758509916 |
562 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1567058626 CA616114721 |
563 | L>* | No |
Ensembl ClinGen |
|
|
CA265832387 rs956084067 |
567 | K>R | No |
ClinGen Ensembl |
|
|
CA390838652 rs1244423856 |
568 | I>T | No |
ClinGen gnomAD |
|
|
CA390838640 rs1433291973 |
570 | C>R | No |
ClinGen gnomAD |
|
|
CA265832370 rs200025213 |
571 | E>G | No |
ClinGen 1000Genomes |
|
|
rs761025873 CA7324815 |
578 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457097426 CA390838559 |
580 | Y>* | No |
gnomAD ClinGen |
|
|
CA390838557 rs1567058597 |
581 | Y>H | No |
ClinGen Ensembl |
|
|
CA7324811 rs747719723 |
584 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs576506786 CA7324812 |
584 | M>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA390838499 rs1194250450 |
589 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs558229455 CA7324810 |
589 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1162634158 CA390838491 |
590 | S>I | No |
ClinGen TOPMed |
|
|
CA7324809 rs768249842 |
594 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748999360 CA7324808 |
595 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253252951 CA390838455 |
596 | S>G | No |
ClinGen gnomAD |
|
|
CA390838452 rs1226422314 |
596 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1341953019 CA390838447 |
597 | I>L | No |
gnomAD ClinGen |
|
|
rs1449540094 CA390838435 |
598 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1237225629 CA390838427 |
599 | C>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1237225629 CA390838431 |
599 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7324806 rs756038846 |
600 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7324805 rs745590708 |
601 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs781202567 CA7324804 |
602 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs139827915 CA7324803 |
602 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA265832306 rs995604319 |
604 | S>C | No |
ClinGen Ensembl |
|
|
CA7324802 rs752849721 |
606 | L>F | No |
ClinGen ExAC |
|
|
CA7324801 rs141328829 |
608 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1389400629 CA390838310 |
609 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1389400629 CA390838309 |
609 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs139990251 CA7324800 |
610 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 611 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265832284 rs1005029967 |
612 | I>T | No |
ClinGen Ensembl |
|
|
rs766523748 CA7324798 |
612 | I>V | No |
ClinGen ExAC |
|
|
CA390838222 rs1422107057 |
615 | L>F | No |
gnomAD ClinGen |
|
|
rs761045984 CA7324797 |
616 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7324796 rs750707808 |
617 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 619 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7324795 rs768101124 |
619 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390838146 rs1487454044 |
621 | M>I | No |
ClinGen TOPMed |
|
|
rs796661197 CA265832262 |
621 | M>T | No |
ClinGen Ensembl |
|
|
CA7324793 rs774901463 |
624 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 626 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390838069 rs1595374844 |
627 | L>F | No |
ClinGen Ensembl |
|
|
rs535305749 CA7324790 |
631 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs769512531 CA7324789 |
632 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA265832227 rs377405012 |
634 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1407618408 CA390837965 |
635 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs150638633 CA7324787 |
635 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324786 rs770724381 |
637 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA7324770 rs775090659 |
640 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA265830990 rs959400861 |
644 | T>I | No |
TOPMed ClinGen |
|
|
rs1208546934 CA390837519 |
646 | V>L | No |
ClinGen TOPMed |
|
|
rs1208546934 CA390837520 |
646 | V>M | No |
TOPMed ClinGen |
|
|
CA265830973 rs1033640278 |
647 | A>T | No |
ClinGen TOPMed |
|
|
CA390837511 rs1407524978 |
647 | A>V | No |
ClinGen TOPMed |
|
|
rs879057729 CA265830967 |
648 | A>G | No |
Ensembl ClinGen |
|
|
rs137885444 CA7324766 |
649 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324767 rs776320527 |
649 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 650 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7324762 rs749405357 |
651 | L>Q | No |
ExAC ClinGen |
|
|
CA265830948 rs887871167 |
651 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs79105187 CA265830936 |
652 | D>G | No |
Ensembl ClinGen |
|
|
CA7324761 rs780148799 |
652 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390837486 rs1327926733 |
653 | I>V | No |
ClinGen gnomAD |
|
|
rs201888790 CA7324759 |
654 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390837478 rs1595374005 |
654 | P>S | No |
ClinGen Ensembl |
|
|
CA7324758 rs375535406 |
655 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757564891 CA7324757 |
658 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA265830915 rs910155004 |
658 | H>Y | No |
Ensembl ClinGen |
|
|
rs1339611495 CA390837448 |
659 | V>I | No |
ClinGen gnomAD |
|
|
rs1283393412 CA390837431 |
661 | H>R | No |
gnomAD ClinGen |
|
|
rs897721611 CA265829282 |
664 | V>F | No |
TOPMed ClinGen |
|
|
rs201027983 CA7324741 |
664 | V>G | No |
ExAC gnomAD ClinGen |
|
|
rs897721611 CA390837303 |
664 | V>I | No |
ClinGen TOPMed |
|
|
CA7324738 rs781281886 |
666 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390837281 rs1431849914 |
666 | R>H | No |
ClinGen gnomAD |
|
|
CA390837271 rs1388783409 |
667 | T>I | No |
ClinGen gnomAD |
|
|
rs747408850 CA7324736 |
668 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 670 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 672 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7324734 rs758808678 |
674 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753310673 CA7324733 |
675 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754448577 CA7324731 |
676 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765766735 CA7324732 |
676 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA390837144 rs1348543022 |
677 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7324728 rs760419383 |
678 | T>S | No |
ExAC gnomAD ClinGen |
|
|
rs772829748 CA7324727 |
680 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7324726 rs767359462 |
683 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA265829073 rs185805781 |
684 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390837057 rs1567057411 |
685 | G>A | No |
Ensembl ClinGen |
|
|
CA390837036 rs1368881405 |
687 | S>C | No |
ClinGen gnomAD |
|
|
rs1368881405 CA390837038 |
687 | S>G | No |
gnomAD ClinGen |
|
|
CA7324725 rs761593879 |
691 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1361227410 CA390836971 |
692 | G>R | No |
ClinGen gnomAD |
|
|
rs768579258 CA7324723 |
693 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs776731853 CA7324721 |
694 | E>G | No |
ExAC ClinGen |
|
|
CA7324720 rs770885223 |
696 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA390836904 rs1567057402 |
697 | I>V | No |
Ensembl ClinGen |
|
|
rs747280169 CA7324718 |
701 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA7324716 rs772628573 |
702 | I>T | No |
ExAC TOPMed ClinGen |
|
|
rs778124716 CA7324717 |
702 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390836813 rs1595373113 |
703 | Y>C | No |
ClinGen Ensembl |
|
|
rs1249114469 CA390836816 |
703 | Y>D | No |
ClinGen gnomAD |
|
|
CA390836818 rs1249114469 |
703 | Y>H | No |
ClinGen gnomAD |
|
|
rs748455375 CA7324714 |
704 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7324713 rs779313699 |
705 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA265828927 rs746253081 |
706 | L>V | No |
Ensembl ClinGen |
|
|
CA390836731 rs1208021910 |
709 | D>V | No |
ClinGen gnomAD |
|
|
CA390836721 rs1311470963 |
710 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs754272738 CA7324711 |
711 | D>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781494399 CA265828918 |
712 | I>M | No |
Ensembl ClinGen |
|
|
CA7324710 rs149275488 |
714 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324708 rs757763942 |
715 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192609174 CA390836644 |
716 | P>S | No |
ClinGen TOPMed |
|
|
CA265828897 CA390836638 rs747489286 |
717 | V>L | No |
ClinGen gnomAD |
|
|
CA390836639 rs747489286 |
717 | V>M | No |
ClinGen gnomAD |
|
|
rs1346258367 CA390836619 |
720 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7324705 rs763968440 |
722 | M>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7324704 rs763968440 |
722 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595373082 CA390836543 |
726 | K>R | No |
Ensembl ClinGen |
|
|
rs1390469989 CA390836404 |
727 | E>Q | No |
gnomAD ClinGen |
|
|
CA7324687 rs763998182 |
728 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390836374 rs1440716523 |
729 | I>N | No |
Ensembl ClinGen |
|
|
CA7324686 rs762638786 |
730 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs138256125 CA7324685 |
730 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390836355 rs1489606821 |
731 | L>S | No |
gnomAD ClinGen |
|
|
CA7324684 rs765196503 |
733 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs533367866 CA265827414 |
735 | I>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs774984638 CA265827413 |
739 | E>D | No |
ClinGen Ensembl |
|
|
rs773387913 CA7324682 |
740 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs1226845831 CA390836264 |
741 | R>Q | No |
ClinGen gnomAD |
|
|
rs1251640642 CA390836254 |
743 | F>L | No |
ClinGen TOPMed |
|
|
CA7324681 rs772249953 |
744 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs1158233237 CA390836238 |
745 | A>S | No |
ClinGen gnomAD |
|
|
CA390836231 rs1196349004 |
746 | C>Y | No |
TOPMed ClinGen |
|
|
rs1311377663 CA390836213 |
749 | N>H | No |
Ensembl ClinGen |
|
|
CA390836166 rs1190073394 |
755 | A>P | No |
TOPMed ClinGen |
|
|
rs1392214400 CA390836150 |
757 | A>V | No |
gnomAD ClinGen |
|
|
rs762147822 CA7324680 |
758 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA390836135 rs1371007942 |
760 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 761 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265827339 rs376082238 |
762 | E>K | No |
Ensembl ClinGen |
|
|
rs749549690 CA7324678 |
764 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA7324677 rs749549690 |
764 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7324675 rs776079335 |
765 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA390835839 rs1431915861 |
766 | D>E | No |
TOPMed ClinGen |
|
|
rs140594665 CA7324673 |
767 | M>I | No |
ESP ExAC ClinGen |
|
|
CA7324674 rs770239129 |
767 | M>V | No |
ExAC gnomAD ClinGen |
|
|
rs541154511 CA7324672 |
768 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390835797 rs1196041849 |
770 | G>R | No |
TOPMed ClinGen |
|
|
rs778903584 CA7324648 |
771 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1595371772 CA390835745 |
772 | K>R | No |
ClinGen Ensembl |
|
|
CA7324646 rs753898193 |
773 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7324645 rs568654670 |
775 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1261452382 CA390835688 |
776 | Q>R | No |
ClinGen TOPMed |
|
|
rs1567056574 CA390835673 |
777 | E>G | No |
Ensembl ClinGen |
|
|
CA7324644 rs757372617 |
779 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390835644 rs1407600735 |
779 | R>H | No |
gnomAD ClinGen |
|
|
CA390835642 rs1407600735 |
779 | R>L | No |
ClinGen gnomAD |
|
|
rs139389411 CA7324642 |
780 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs139389411 CA7324641 |
780 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7324643 rs751546083 |
780 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7324640 rs146354201 |
781 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs777127239 CA7324637 |
784 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA7324638 rs759885273 |
784 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs772554599 CA7324634 CA390835554 |
785 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760253546 CA7324636 |
785 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1041930146 CA265820557 |
785 | M>T | No |
ClinGen Ensembl |
|
|
rs760253546 CA7324635 |
785 | M>V | No |
ExAC gnomAD ClinGen |
|
|
rs771591025 CA7324633 |
787 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1303412562 CA390835487 |
789 | K>* | No |
ClinGen gnomAD |
|
|
CA390835429 rs1425270842 |
792 | L>V | No |
ClinGen TOPMed |
|
|
rs754865069 CA7324631 |
793 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7324630 rs374237706 |
793 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768576218 CA7324629 |
794 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs749037973 CA7324628 |
794 | H>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 796 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7324624 rs777761095 |
797 | S>C | No |
ClinGen ExAC |
|
|
rs750340843 CA7324625 |
797 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1284586009 CA390835275 |
799 | P>A | No |
ClinGen gnomAD |
|
|
CA7324621 rs752979202 |
801 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7324620 rs765376866 |
802 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7324619 rs199661745 |
802 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 804 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754151329 CA390835177 |
804 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766939385 CA7324617 |
808 | K>M | No |
ExAC gnomAD ClinGen |
|
|
rs766939385 CA390835099 |
808 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs761137194 CA7324616 |
809 | Y>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390835063 rs1219547951 |
810 | P>A | No |
ClinGen TOPMed |
|
|
CA7324614 rs538315812 |
811 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7324615 rs538315812 |
811 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142316084 CA7324613 |
812 | Q>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA390834997 rs1189852340 |
814 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1466587208 CA390834980 |
815 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA7324611 rs147672109 |
816 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs909939185 CA265820426 |
816 | P>S | No |
gnomAD ClinGen |
|
|
CA390834952 rs779756351 |
817 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA7324609 rs779756351 |
817 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA7324607 rs745847508 |
819 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229062931 CA390834899 |
819 | L>P | No |
ClinGen gnomAD |
|
|
rs1295529017 CA390834880 |
820 | V>G | No |
gnomAD ClinGen |
|
|
CA390834886 rs1367203696 |
820 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1367203696 CA390834892 |
820 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA7324606 rs781181924 |
821 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA390834838 rs1350510290 |
823 | P>S | No |
ClinGen gnomAD |
|
|
rs1325843747 CA390834823 |
824 | S>G | No |
gnomAD ClinGen |
|
|
rs925425981 CA265820365 |
824 | S>N | No |
TOPMed ClinGen |
|
|
CA7324604 rs377666769 |
826 | S>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324602 rs375061762 |
827 | E>K | No |
ESP ExAC gnomAD ClinGen |
|
|
CA7324601 rs370682465 |
828 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1388810296 CA390834657 |
832 | C>* | No |
gnomAD ClinGen |
|
|
CA7324600 rs548073406 |
832 | C>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1401001925 CA390834648 |
833 | L>P | No |
ClinGen TOPMed |
|
|
rs750899751 CA7324598 |
835 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 837 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195184721 CA390834591 |
837 | K>Q | No |
gnomAD ClinGen |
|
|
rs1246772357 CA390834553 |
838 | K>N | No |
ClinGen gnomAD |
|
|
rs761434640 CA7324596 |
840 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs761434640 CA7324595 |
840 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs202193526 CA7324590 |
842 | K>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs745606556 CA7324585 |
844 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769540436 CA7324586 |
844 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265820268 rs1031993830 |
846 | E>D | No |
TOPMed ClinGen |
|
|
CA7324583 rs770805234 |
848 | Q>* | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 848 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748256432 CA7324582 |
849 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749541401 CA7324580 |
850 | E>* | No |
ExAC gnomAD ClinGen |
|
|
CA7324578 rs780257447 |
850 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749541401 CA7324579 |
850 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390834277 rs1415546905 |
852 | P>S | No |
gnomAD ClinGen |
|
|
CA7324576 rs750754328 |
854 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390834238 rs750754328 |
854 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA7324574 rs767944151 |
856 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767944151 CA265820190 |
856 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs149730084 CA390834149 |
858 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390834158 rs1483941755 |
858 | A>P | No |
ClinGen gnomAD |
|
|
rs149730084 CA7324573 |
858 | A>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7324572 rs752092620 |
859 | N>D | No |
ExAC gnomAD ClinGen |
|
|
CA265820165 rs199599113 |
860 | N>S | No |
ClinGen Ensembl |
|
|
CA265820164 rs367601031 |
860 | N>Y | No |
Ensembl ClinGen |
No associated diseases with Q9GZR7
5 regional properties for Q9GZR7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 651 - 892 | IPR003439 |
| domain | AAA+ ATPase domain | 678 - 869 | IPR003593 |
| domain | ABC transporter type 1, transmembrane domain | 315 - 621 | IPR011527-1 |
| domain | ABC transporter type 1, transmembrane domain | 962 - 1218 | IPR011527-2 |
| conserved_site | ABC transporter-like, conserved site | 792 - 806 | IPR017871 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| RNA metabolic process | The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NHQ9 | DDX55 | ATP-dependent RNA helicase DDX55 | Homo sapiens (Human) | PR |
| P60842 | EIF4A1 | Eukaryotic initiation factor 4A-I | Homo sapiens (Human) | PR |
| Q14240 | EIF4A2 | Eukaryotic initiation factor 4A-II | Homo sapiens (Human) | PR |
| Q9Y6V7 | DDX49 | Probable ATP-dependent RNA helicase DDX49 | Homo sapiens (Human) | PR |
| Q9H0S4 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Homo sapiens (Human) | PR |
| Q8TDD1 | DDX54 | ATP-dependent RNA helicase DDX54 | Homo sapiens (Human) | PR |
| Q92499 | DDX1 | ATP-dependent RNA helicase DDX1 | Homo sapiens (Human) | PR |
| Q9NY93 | DDX56 | Probable ATP-dependent RNA helicase DDX56 | Homo sapiens (Human) | PR |
| Q9NUL7 | DDX28 | Probable ATP-dependent RNA helicase DDX28 | Homo sapiens (Human) | PR |
| Q7L014 | DDX46 | Probable ATP-dependent RNA helicase DDX46 | Homo sapiens (Human) | PR |
| Q9ESV0 | Ddx24 | ATP-dependent RNA helicase DDX24 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKLKDTKSRP | KQSSCGKFQT | KGIKVVGKWK | EVKIDPNMFA | DGQMDDLVCF | EELTDYQLVS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PAKNPSSLFS | KEAPKRKAQA | VSEEEEEEEG | KSSSPKKKIK | LKKSKNVATE | GTSTQKEFEV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDPELEAQGD | DMVCDDPEAG | EMTSENLVQT | APKKKKNKGK | KGLEPSQSTA | AKVPKKAKTW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IPEVHDQKAD | VSAWKDLFVP | RPVLRALSFL | GFSAPTPIQA | LTLAPAIRDK | LDILGAAETG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SGKTLAFAIP | MIHAVLQWQK | RNAAPPPSNT | EAPPGETRTE | AGAETRSPGK | AEAESDALPD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DTVIESEALP | SDIAAEARAK | TGGTVSDQAL | LFGDDDAGEG | PSSLIREKPV | PKQNENEEEN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LDKEQTGNLK | QELDDKSATC | KAYPKRPLLG | LVLTPTRELA | VQVKQHIDAV | ARFTGIKTAI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVGGMSTQKQ | QRMLNRRPEI | VVATPGRLWE | LIKEKHYHLR | NLRQLRCLVV | DEADRMVEKG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HFAELSQLLE | MLNDSQYNPK | RQTLVFSATL | TLVHQAPARI | LHKKHTKKMD | KTAKLDLLMQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KIGMRGKPKV | IDLTRNEATV | ETLTETKIHC | ETDEKDFYLY | YFLMQYPGRS | LVFANSISCI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KRLSGLLKVL | DIMPLTLHAC | MHQKQRLRNL | EQFARLEDCV | LLATDVAARG | LDIPKVQHVI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HYQVPRTSEI | YVHRSGRTAR | ATNEGLSLML | IGPEDVINFK | KIYKTLKKDE | DIPLFPVQTK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YMDVVKERIR | LARQIEKSEY | RNFQACLHNS | WIEQAAAALE | IELEEDMYKG | GKADQQEERR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RQKQMKVLKK | ELRHLLSQPL | FTESQKTKYP | TQSGKPPLLV | SAPSKSESAL | SCLSKQKKKK |
| 850 | |||||
| TKKPKEPQPE | QPQPSTSAN |