Q9H069
Gene name |
DRC3 (LRRC48) |
Protein name |
Dynein regulatory complex subunit 3 |
Names |
Leucine-rich repeat-containing protein 48 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83450 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9H069
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | 3 | 1-523 | PDB |
| AF-Q9H069-F1 | Predicted | AlphaFoldDB |
485 variants for Q9H069
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA398559468 rs1597527340 |
2 | N>T | No |
ClinGen Ensembl |
|
|
rs747781609 CA8421133 |
3 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8421134 rs769383947 |
4 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 4 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776044702 CA8421138 |
7 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765832435 CA8421137 |
7 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA288402426 rs933588418 |
8 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs372291578 CA8421140 |
8 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8421141 rs754312399 |
9 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs375506490 CA8421142 |
10 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1056013067 CA288402448 |
10 | P>S | No |
ClinGen Ensembl |
|
|
CA398559534 rs1597527592 |
12 | V>A | No |
ClinGen Ensembl |
|
|
CA398559545 rs372045747 |
14 | D>H | No |
ClinGen ESP ExAC |
|
|
CA8421144 rs372045747 |
14 | D>N | No |
ClinGen ESP ExAC |
|
|
rs267604763 CA8421145 |
15 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398559565 rs1220129546 |
16 | D>E | No |
ClinGen TOPMed |
|
|
CA8421146 rs780034546 |
16 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398559567 rs1449535596 |
17 | M>V | No |
ClinGen TOPMed |
|
|
rs1291508127 CA398559577 |
18 | L>F | No |
ClinGen TOPMed |
|
|
CA398559594 rs1335904324 |
21 | A>T | No |
ClinGen TOPMed |
|
|
CA8421147 rs746958523 |
22 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746958523 CA398559600 |
22 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421149 rs199764732 |
23 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747875674 CA8421150 |
24 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398559611 rs1488268255 |
24 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254961725 CA398559631 |
27 | P>T | No |
ClinGen gnomAD |
|
|
rs1387603867 CA398559645 |
29 | E>* | No |
ClinGen TOPMed |
|
|
CA398559646 rs1387603867 |
29 | E>Q | No |
ClinGen TOPMed |
|
|
rs1410500949 CA398559663 |
31 | A>D | No |
ClinGen gnomAD |
|
|
rs772805446 CA8421153 |
31 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1410500949 CA398559665 |
31 | A>V | No |
ClinGen gnomAD |
|
|
rs34046558 CA8421157 |
32 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8421156 CA398559666 rs748992079 |
32 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288402518 rs1035630853 |
33 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398559680 rs1457091273 |
34 | L>P | No |
ClinGen gnomAD |
|
|
rs955927451 CA288402520 |
35 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8421159 rs761232481 |
36 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764451357 CA8421160 |
36 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762218789 CA8421162 |
40 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs914203861 CA288402534 |
41 | L>F | No |
ClinGen TOPMed |
|
|
CA8421164 rs753959068 |
43 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398559798 rs201331761 CA8421166 |
52 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552316712 CA8421168 |
53 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8421167 rs200180400 |
53 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187632732 CA8421213 |
54 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439176060 CA398560229 |
55 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398560247 rs1597561646 |
56 | L>F | No |
ClinGen Ensembl |
|
|
rs758179461 CA8421214 |
57 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421215 COSM3728153 rs779863673 |
57 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779863673 CA8421216 |
57 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754563427 CA8421217 |
58 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161490029 CA398560411 |
62 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8421218 rs545493335 |
64 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8421219 rs193222617 |
69 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168832024 CA398560476 |
71 | Q>R | No |
ClinGen gnomAD |
|
|
CA8421222 rs746078816 |
73 | D>H | No |
ClinGen ExAC |
|
|
CA8421223 rs772225892 |
74 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 76 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295545372 CA398560508 |
76 | I>V | No |
ClinGen gnomAD |
|
|
rs780464444 CA288406079 |
77 | I>T | No |
ClinGen Ensembl |
|
|
rs764283154 CA8421228 |
78 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374156072 CA288406094 |
80 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs201063688 CA8421231 |
82 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398560556 rs1214983883 |
83 | L>Q | No |
ClinGen gnomAD |
|
|
CA8421233 rs370552607 |
87 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA288406105 rs962521874 |
87 | A>V | No |
ClinGen Ensembl |
|
|
CA398560591 rs1194604669 |
88 | H>Q | No |
ClinGen gnomAD |
|
|
CA8421235 rs751283013 |
90 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288406112 rs751283013 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288406113 rs200348668 |
91 | W>* | No |
ClinGen gnomAD |
|
|
CA398560617 rs1226394846 |
93 | D>Y | No |
ClinGen TOPMed |
|
|
rs1184045545 CA398565693 |
97 | N>I | No |
ClinGen TOPMed |
|
|
CA398565692 rs1184045545 |
97 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398565707 rs1312036140 |
99 | I>T | No |
ClinGen gnomAD |
|
|
CA8421256 rs370251055 |
99 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355923302 CA398565716 |
100 | E>D | No |
ClinGen gnomAD |
|
|
CA398565724 rs1234676613 |
102 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8421257 rs755586454 |
102 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398565732 rs1262021464 |
103 | E>A | No |
ClinGen gnomAD |
|
|
CA8421258 rs779436451 |
103 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210874008 CA398565765 |
108 | L>P | No |
ClinGen gnomAD |
|
|
rs1036697581 CA288376139 |
108 | L>V | No |
ClinGen Ensembl |
|
|
CA8421259 rs373700563 |
110 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8421260 rs368789075 |
111 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780462857 CA8421261 |
112 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398565794 rs1349378590 |
113 | D>V | No |
ClinGen TOPMed |
|
|
CA398565792 rs1250116004 |
113 | D>Y | No |
ClinGen gnomAD |
|
|
rs747217389 CA8421262 |
117 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374298561 CA8421265 |
120 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8421266 rs536193055 |
120 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374298561 CA8421264 |
120 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398566094 rs1375775519 |
121 | I>L | No |
ClinGen gnomAD |
|
|
CA398566114 rs1555625386 |
122 | S>P | No |
ClinGen Ensembl |
|
|
CA8421268 rs763028039 |
123 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050079486 CA288376211 |
123 | K>Q | No |
ClinGen Ensembl |
|
|
rs773263303 CA8421267 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391670371 CA398566131 |
125 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs371759384 CA288376231 |
126 | S>Y | No |
ClinGen ESP TOPMed |
|
|
rs1234123572 CA398566164 |
127 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs144134879 CA8421272 |
129 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144134879 CA8421274 |
129 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8421273 rs144134879 |
129 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8421278 rs780550602 |
131 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421277 rs202136595 |
131 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1009707444 CA288376291 |
135 | V>M | No |
ClinGen TOPMed |
|
|
CA398566360 rs1302306792 |
137 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781422305 CA8421281 |
139 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781422305 CA8421282 |
139 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398566398 rs1437578281 |
140 | N>H | No |
ClinGen TOPMed |
|
|
CA8421285 rs376381892 |
142 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557586139 CA8421283 |
142 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs749226818 CA8421286 |
143 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173289575 CA398566526 |
146 | M>V | No |
ClinGen TOPMed |
|
|
CA8421303 rs756467064 |
149 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398567439 rs756467064 |
149 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289616018 CA398567442 |
150 | I>V | No |
ClinGen TOPMed |
|
|
rs778159280 CA8421304 |
151 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371064166 CA8421306 |
153 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275052723 CA398567461 |
153 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs778948276 CA288380173 |
154 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421307 rs778948276 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213494692 CA398567466 |
154 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1486176159 CA398567470 |
155 | F>V | No |
ClinGen gnomAD |
|
|
rs375433410 CA288380184 |
158 | L>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8421309 VAR_051120 rs8072048 |
159 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745843407 CA8421308 |
159 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8421311 rs372588990 |
160 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 161 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266921002 CA398567513 |
162 | S>N | No |
ClinGen TOPMed |
|
|
rs761260556 CA8421314 |
164 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764774203 CA8421315 |
165 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421316 rs774887197 |
166 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA8421317 rs760031676 |
168 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1415559652 CA398567559 |
169 | S>F | No |
ClinGen gnomAD |
|
|
rs1208042696 CA398567570 |
171 | A>S | No |
ClinGen TOPMed |
|
|
rs1326904570 CA398567573 |
171 | A>V | No |
ClinGen TOPMed |
|
|
rs368006381 CA288380322 |
173 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1048084651 CA288380328 |
174 | Y>H | No |
ClinGen TOPMed |
|
|
rs764372619 CA8421321 |
175 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA398567618 rs1261410358 |
177 | F>L | No |
ClinGen Ensembl |
|
|
CA398567620 rs1343256059 |
178 | I>V | No |
ClinGen gnomAD |
|
|
CA398567648 rs1298695188 |
181 | Y>* | No |
ClinGen TOPMed |
|
|
rs1231443777 CA398567659 |
183 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385516504 CA398567663 |
184 | D>Y | No |
ClinGen TOPMed |
|
|
rs371901047 CA288380344 |
185 | L>P | No |
ClinGen ESP |
|
|
CA398567681 CA398567680 rs1274688112 |
186 | M>I | No |
ClinGen gnomAD |
|
|
rs1217947509 CA398567677 |
186 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA288380355 rs748985808 |
186 | M>V | No |
ClinGen TOPMed |
|
|
CA398567682 rs1340673179 |
187 | Y>N | No |
ClinGen gnomAD |
|
|
rs1457208963 CA398567695 |
189 | D>N | No |
ClinGen TOPMed |
|
|
rs4584886 CA398567711 |
191 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8421323 rs757392054 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8421322 rs4584886 VAR_025625 |
191 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs554588749 CA8421324 |
192 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8421325 rs185967799 |
192 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 192 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758208764 CA8421326 |
193 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA398567729 rs1408158892 |
194 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1408158892 CA398567728 |
194 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1402953614 CA398567745 |
195 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs780044335 CA8421327 |
197 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA8421354 rs777491421 |
201 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398568686 rs984737923 |
202 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA288381800 rs984737923 |
202 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1294118414 CA398568696 |
203 | A>G | No |
ClinGen gnomAD |
|
|
rs1038417965 CA288381804 |
203 | A>P | No |
ClinGen TOPMed |
|
|
rs375413014 CA398568729 |
207 | Y>* | No |
ClinGen gnomAD |
|
|
CA398568735 rs1407970611 |
208 | S>N | No |
ClinGen TOPMed |
|
|
CA398568746 rs192330832 |
210 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA288381822 rs192330832 |
210 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA398568758 rs1260302158 |
211 | E>D | No |
ClinGen gnomAD |
|
|
rs894560659 CA288381823 |
211 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1212102861 CA398568756 |
211 | E>V | No |
ClinGen gnomAD |
|
|
rs1189390976 CA398568774 |
214 | H>Y | No |
ClinGen TOPMed |
|
|
CA398568781 rs1446973582 |
215 | Q>E | No |
ClinGen gnomAD |
|
|
rs1194321037 CA398568788 |
216 | E>K | No |
ClinGen gnomAD |
|
|
CA398568807 rs1250578050 |
218 | L>R | No |
ClinGen TOPMed |
|
|
CA8421358 rs761307066 |
218 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288381834 rs1044860101 |
219 | M>T | No |
ClinGen TOPMed |
|
|
rs1474348438 CA398568822 |
220 | Q>H | No |
ClinGen gnomAD |
|
|
rs769140191 CA8421359 |
221 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398568824 rs1181998889 |
221 | A>T | No |
ClinGen TOPMed |
|
|
rs1418596945 CA398568831 |
222 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA288381862 rs747487490 |
224 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8421361 rs777077114 |
225 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1318719919 CA398568856 |
226 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1318719919 CA398568857 |
226 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA398568873 rs1235186383 |
228 | A>P | No |
ClinGen TOPMed |
|
|
rs1342146355 CA398568877 |
228 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1334878160 CA398568887 |
230 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs750680393 CA8421364 |
230 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766516447 CA8421366 |
232 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398568918 rs1258487282 |
232 | E>K | No |
ClinGen gnomAD |
|
|
rs1206310240 CA398568960 |
234 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA398569000 rs1166523067 |
236 | H>P | No |
ClinGen TOPMed |
|
|
CA398568997 rs1265714779 |
236 | H>Y | No |
ClinGen gnomAD |
|
|
rs751491754 CA8421367 |
237 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA398569023 rs1258446211 |
237 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763990104 CA8421389 |
239 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421390 rs377575498 |
239 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778711480 CA8421392 |
243 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1202669903 CA398569180 |
243 | H>Y | No |
ClinGen gnomAD |
|
|
rs745329732 CA8421393 |
246 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8421394 rs547331351 |
247 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8421395 rs73303853 |
248 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1425587554 CA398569236 |
251 | D>E | No |
ClinGen gnomAD |
|
|
rs748725764 CA8421396 |
251 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434735482 CA398569241 |
252 | S>T | No |
ClinGen gnomAD |
|
|
CA8421398 rs755670366 |
253 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421397 rs770046460 |
253 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288382531 rs533440470 |
254 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8421399 rs749630144 |
255 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421403 rs767633482 |
260 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA398569294 rs111309590 |
260 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8421402 rs111309590 |
260 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398569302 rs1373766938 |
261 | N>S | No |
ClinGen TOPMed |
|
|
rs775375793 CA8421404 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760734762 CA8421405 |
263 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA398569327 rs1271344133 |
265 | Y>C | No |
ClinGen gnomAD |
|
|
CA398569344 rs1241222405 |
268 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA288382594 rs763629865 |
268 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398569350 rs1184503635 |
269 | V>A | No |
ClinGen gnomAD |
|
|
rs761543661 CA8421408 |
269 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8421410 rs750149905 |
270 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8421411 rs549599488 |
274 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779773820 CA8421412 |
275 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA398569413 rs1485101916 |
276 | Y>C | No |
ClinGen gnomAD |
|
|
rs1210467018 CA398569429 |
278 | D>A | No |
ClinGen gnomAD |
|
|
rs201680836 CA288384326 |
284 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8421432 rs751012994 |
284 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421431 rs766140604 |
284 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs751012994 CA398569470 |
284 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421434 rs756511523 |
285 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1208107150 CA398569483 |
286 | N>I | No |
ClinGen TOPMed |
|
|
rs1172093403 CA398569487 |
287 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8421435 rs754356489 |
289 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421436 rs757587994 |
289 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs779317595 CA8421437 |
290 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs982886709 CA398569514 |
291 | G>R | No |
ClinGen gnomAD |
|
|
rs982886709 CA288384365 |
291 | G>S | No |
ClinGen gnomAD |
|
|
CA398569519 rs1310108886 |
292 | L>M | No |
ClinGen gnomAD |
|
|
CA8421438 rs780518045 |
294 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398569549 rs1242230879 |
296 | E>K | No |
ClinGen gnomAD |
|
|
rs1400574938 CA398569556 |
297 | K>E | No |
ClinGen TOPMed |
|
|
rs201211532 CA8421441 |
298 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8421440 rs565211645 |
298 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768665791 CA8421442 |
300 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435747252 CA398569587 |
302 | L>F | No |
ClinGen gnomAD |
|
|
rs181839904 CA8421443 |
303 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761904241 CA398569603 |
304 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761904241 CA8421444 |
304 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA398569614 rs1192371934 |
306 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs921444200 CA288384463 |
307 | E>K | No |
ClinGen TOPMed |
|
|
rs773080689 CA8421446 |
308 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421447 rs762842975 |
310 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421448 rs199972472 |
310 | R>H | Variant assessed as Somatic; 9.32e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8421449 rs199972472 |
310 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374926724 CA8421451 |
312 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374926724 CA288384494 |
312 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398569657 rs1199190159 |
313 | I>V | No |
ClinGen TOPMed |
|
|
rs754366223 CA8421452 |
314 | Q>H | No |
ClinGen ExAC |
|
|
CA398569667 rs1597607981 |
314 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 315 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8421453 rs757821017 |
315 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402631196 CA398569678 |
316 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1402631196 CA398569677 |
316 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs903465759 CA288384524 |
318 | E>G | No |
ClinGen gnomAD |
|
|
rs750721132 CA8421456 |
319 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529789455 CA8421457 |
322 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529789455 CA398569722 |
322 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8421458 rs201927277 |
322 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA398569721 rs529789455 |
322 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel CA8421460 rs747234839 |
323 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA398569734 rs1336975763 |
324 | I>F | No |
ClinGen gnomAD |
|
|
rs748248965 CA8421462 |
324 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8421461 rs186533138 |
324 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769785558 CA8421463 |
325 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8421465 rs749046089 |
326 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1252876675 CA398569750 |
327 | F>L | No |
ClinGen gnomAD |
|
|
CA8421467 rs372168615 |
328 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372168615 CA8421468 |
328 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8421469 rs767041645 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 331 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8421470 rs201027663 |
332 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
| rs1459977522 | 333 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398569796 rs1425839444 |
333 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA398570433 rs1353658198 |
334 | S>T | No |
ClinGen gnomAD |
|
|
CA398570440 rs1217738389 |
335 | L>S | No |
ClinGen gnomAD |
|
|
CA8421491 rs565759191 |
336 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398570447 rs565759191 |
336 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8421492 rs763423453 |
339 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421493 rs766923022 |
339 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA288389603 rs1003987103 |
340 | E>A | No |
ClinGen Ensembl |
|
|
rs751804051 CA8421494 |
341 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288389620 rs148107258 |
342 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148107258 CA8421496 |
342 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756232152 CA8421499 |
344 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171674853 CA398570499 |
345 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8421500 rs141917632 |
346 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8421501 rs753818418 |
347 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398570530 rs1597627819 |
349 | K>M | No |
ClinGen Ensembl |
|
|
rs1397226356 CA398570541 |
350 | M>I | No |
ClinGen gnomAD |
|
|
CA398570546 rs1326302212 |
351 | I>T | No |
ClinGen gnomAD |
|
|
rs1597627859 CA398570552 |
352 | L>P | No |
ClinGen Ensembl |
|
|
CA398570572 rs1376731570 |
355 | S>G | No |
ClinGen gnomAD |
|
|
CA398570577 rs1568527205 |
355 | S>R | No |
ClinGen Ensembl |
|
|
CA398570616 rs1427823658 |
358 | I>L | No |
ClinGen gnomAD |
|
|
CA398570635 rs567777043 |
359 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567777043 CA8421503 |
359 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1311907718 CA398570643 |
359 | S>T | No |
ClinGen gnomAD |
|
|
CA8421504 rs745612550 |
362 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771948912 CA398570731 |
363 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771948912 CA8421505 |
363 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11656629 CA398570757 |
364 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484375056 CA398570748 |
364 | A>T | No |
ClinGen gnomAD |
|
|
rs11656629 VAR_051121 CA8421507 |
364 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1457261451 CA398570775 |
365 | L>P | No |
ClinGen gnomAD |
|
|
rs1179243512 CA398570787 |
366 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1179243512 CA398570792 |
366 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8421509 rs367586446 |
367 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771302184 CA8421511 |
368 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1366706244 CA398570816 |
370 | M>K | No |
ClinGen gnomAD |
|
|
CA398570824 rs1467268530 |
371 | Q>* | No |
ClinGen gnomAD |
|
|
CA398570838 rs1398999132 |
373 | V>A | No |
ClinGen gnomAD |
|
|
CA8421512 rs774942430 |
373 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334003285 CA398570844 |
374 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 374 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398570857 rs1013984266 |
376 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1382596960 CA398570867 |
377 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA398570887 rs1265795382 |
378 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA288390911 rs999219305 |
379 | T>A | No |
ClinGen TOPMed |
|
|
rs565893291 CA288390929 |
380 | I>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs758270660 CA8421543 |
380 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8421544 rs766308317 |
381 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8421545 rs751314253 |
382 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs375064299 CA8421546 |
383 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369488323 CA8421547 |
385 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771056583 CA8421549 |
387 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs200313075 CA8421548 |
387 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398570967 rs1297994303 |
390 | M>I | No |
ClinGen gnomAD |
|
|
CA398570964 rs1351953963 |
390 | M>L | No |
ClinGen gnomAD |
|
|
rs777401010 CA8421550 |
390 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1479159085 CA398570981 |
392 | G>A | No |
ClinGen TOPMed |
|
|
rs988406379 CA288391032 |
395 | I>M | No |
ClinGen TOPMed |
|
|
rs748821348 CA8421551 |
396 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772644849 CA8421552 |
397 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421554 rs776176224 |
398 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421553 rs776176224 |
398 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288391071 rs1017200256 |
399 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1490287929 CA398571057 |
402 | M>T | No |
ClinGen TOPMed |
|
|
rs1010001538 CA288391930 |
402 | M>V | No |
ClinGen Ensembl |
|
|
rs1330639688 CA398571069 |
404 | Q>E | No |
ClinGen gnomAD |
|
|
rs548580914 CA8421582 |
406 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398571084 rs1272872199 |
406 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs548580914 CA8421581 |
406 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs923910475 CA288391996 |
407 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200769862 CA8421587 |
411 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398571124 rs1459492866 |
412 | H>Y | No |
ClinGen gnomAD |
|
|
CA288392020 rs376408767 |
413 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA398571133 rs1478473851 |
413 | H>L | No |
ClinGen gnomAD |
|
|
rs778621351 CA398571135 |
413 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA8421589 rs376408767 |
413 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749964191 CA398571137 |
414 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749964191 CA8421591 |
414 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1568535184 CA398571165 |
418 | E>A | No |
ClinGen Ensembl |
|
|
rs1568535155 CA398571163 |
418 | E>Q | No |
ClinGen Ensembl |
|
|
rs1171506881 CA398571176 |
419 | I>M | No |
ClinGen gnomAD |
|
|
rs1317155938 CA398571174 |
419 | I>S | No |
ClinGen gnomAD |
|
|
rs1555631283 CA398571180 |
420 | S>Y | No |
ClinGen Ensembl |
|
|
CA8421593 rs755442046 |
421 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749577241 CA8421598 |
426 | K>E | No |
ClinGen ExAC |
|
|
CA398571219 rs1284845283 |
426 | K>M | No |
ClinGen gnomAD |
|
|
CA8421600 rs570908850 |
427 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770986955 CA8421599 |
427 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398571225 rs1338002191 |
427 | I>V | No |
ClinGen gnomAD |
|
|
CA8421602 rs772006262 |
430 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398571248 rs760498955 |
431 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421604 rs760498955 |
431 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421606 rs199766678 |
433 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372114730 CA8421607 |
434 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398571277 rs764981958 |
435 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA398571279 rs1425953559 |
435 | D>E | No |
ClinGen gnomAD |
|
|
CA8421608 rs764981958 |
435 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA398571273 rs1477625007 |
435 | D>Y | No |
ClinGen gnomAD |
|
|
rs201906441 CA8421609 |
438 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8421611 rs781708878 |
438 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200124645 CA8421610 |
438 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753182537 CA8421612 |
439 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398571296 rs753182537 |
439 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398571303 rs374334607 |
440 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8421613 rs756496052 |
440 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA288392230 rs374334607 |
440 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs566481420 CA8421614 |
441 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1051446562 CA288392244 |
441 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs796990165 CA288392272 |
442 | A>G | No |
ClinGen Ensembl |
|
|
CA8421615 rs749669106 |
442 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796990165 CA288392277 |
442 | A>V | No |
ClinGen Ensembl |
|
|
rs1400133622 CA398571448 |
444 | F>V | No |
ClinGen gnomAD |
|
|
rs141679194 CA8421653 |
445 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444651369 CA398571454 |
445 | V>I | No |
ClinGen gnomAD |
|
|
rs571427963 CA398571459 |
446 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8421654 rs571427963 |
446 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs374340023 CA8421655 |
448 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8421656 rs78556652 |
449 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8421658 rs757590413 |
450 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8421659 rs745798344 |
451 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239047026 CA398571511 |
454 | V>I | No |
ClinGen TOPMed |
|
|
CA398571519 rs1205201855 |
455 | G>E | No |
ClinGen gnomAD |
|
|
CA8421661 rs200381151 |
455 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 455 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202171250 CA8421665 |
459 | D>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1391625596 CA398571560 |
461 | H>R | No |
ClinGen TOPMed |
|
|
rs748163277 CA8421666 |
463 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421669 rs575558684 |
465 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8421668 rs375626870 |
465 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398571583 rs1429608987 |
465 | I>V | No |
ClinGen gnomAD |
|
|
rs905125937 CA288397942 |
466 | D>G | No |
ClinGen TOPMed |
|
|
rs770452171 CA8421670 |
468 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8421671 rs774076446 |
468 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1367614474 CA398571605 |
469 | E>Q | No |
ClinGen gnomAD |
|
|
rs759026512 CA398571650 |
475 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421672 rs759026512 |
475 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973474997 CA288397964 |
475 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs371092039 CA8421673 |
476 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8421674 rs569837531 |
477 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398571662 rs1319878117 |
477 | N>S | No |
ClinGen gnomAD |
|
|
rs1319878117 CA398571663 |
477 | N>T | No |
ClinGen gnomAD |
|
|
CA398571669 rs1292233119 |
478 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA398571670 rs1292233119 |
478 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1490736472 CA398571685 |
480 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398571683 rs1490736472 |
480 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs762367302 CA8421675 |
482 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8421676 rs765775066 |
482 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398571701 rs1568556345 |
483 | L>S | No |
ClinGen Ensembl |
|
|
CA398571707 rs1568556380 |
484 | I>L | No |
ClinGen Ensembl |
|
|
CA8421678 rs763394010 |
484 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750711539 CA8421677 |
484 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270374719 CA398571711 |
485 | D>H | No |
ClinGen TOPMed |
|
|
rs1284399301 CA398571718 |
486 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8421694 rs773815957 |
488 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398571757 rs1207384684 |
489 | K>N | No |
ClinGen gnomAD |
|
|
rs766832997 CA8421696 |
492 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs763193733 CA8421695 |
492 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs943541127 CA288398384 |
493 | M>L | No |
ClinGen gnomAD |
|
|
rs1597660603 CA398571783 |
493 | M>T | No |
ClinGen Ensembl |
|
|
CA8421697 rs73303861 |
494 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8421698 rs113192268 |
496 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368791219 CA288398432 |
496 | R>H | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA8421699 rs571557653 |
497 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8421700 rs375162242 |
498 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8421701 rs756240634 |
498 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA288398465 rs756240634 |
498 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421703 rs367996323 |
499 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757001083 CA8421704 |
501 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA398571834 rs778829224 |
501 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8421706 rs745681161 |
502 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139361529 CA398571846 |
503 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1248283570 CA398571847 |
503 | N>K | No |
ClinGen gnomAD |
|
|
CA8421707 rs139361529 |
503 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200518195 CA288398503 |
505 | Y>H | No |
ClinGen 1000Genomes |
|
|
rs779699710 CA8421708 |
506 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288398525 rs766718133 |
507 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766718133 CA398571870 |
507 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA398571878 rs1480776998 |
508 | H>D | No |
ClinGen gnomAD |
|
|
CA288398534 rs371888769 |
509 | M>L | No |
ClinGen ESP |
|
|
CA288398547 rs1012789802 |
512 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1443880709 CA398571928 |
514 | D>E | No |
ClinGen gnomAD |
|
|
CA398571924 rs1354947888 |
514 | D>V | No |
ClinGen gnomAD |
|
|
CA398571938 rs1272675606 |
516 | L>V | No |
ClinGen gnomAD |
|
|
rs749862437 CA8421712 |
517 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs771355481 CA8421713 |
518 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1223528272 CA398571951 |
518 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1223528272 CA398571950 |
518 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398571965 rs1597660990 |
520 | D>G | No |
ClinGen Ensembl |
|
|
CA8421715 rs760010947 |
520 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1274123214 CA398571974 |
521 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1439880850 CA398571976 |
522 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA398571986 rs1219856256 |
523 | D>A | No |
ClinGen gnomAD |
No associated diseases with Q9H069
4 regional properties for Q9H069
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 66 - 87 | IPR001611-1 |
| repeat | Leucine-rich repeat | 88 - 109 | IPR001611-2 |
| repeat | Leucine-rich repeat | 110 - 131 | IPR001611-3 |
| repeat | Leucine-rich repeat | 132 - 153 | IPR001611-4 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IYG6 | LRRC56 | Leucine-rich repeat-containing protein 56 | Homo sapiens (Human) | PR |
| Q96M69 | LRGUK | Leucine-rich repeat and guanylate kinase domain-containing protein | Homo sapiens (Human) | PR |
| Q6ZRR7 | LRRC9 | Leucine-rich repeat-containing protein 9 | Homo sapiens (Human) | PR |
| Q4LDG9 | DNAL1 | Dynein axonemal light chain 1 | Homo sapiens (Human) | PR |
| Q9DAP0 | Lrrc46 | Leucine-rich repeat-containing protein 46 | Mus musculus (Mouse) | PR |
| Q9D5S7 | Lrguk | Leucine-rich repeat and guanylate kinase domain-containing protein | Mus musculus (Mouse) | PR |
| Q6DIQ3 | ppp1r7 | Protein phosphatase 1 regulatory subunit 7 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNQPCNSMEP | RVMDDDMLKL | AVGDQGPQEE | AGQLAKQEGI | LFKDVLSLQL | DFRNILRIDN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LWQFENLRKL | QLDNNIIEKI | EGLENLAHLV | WLDLSFNNIE | TIEGLDTLVN | LEDLSLFNNR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ISKIDSLDAL | VKLQVLSLGN | NRIDNMMNII | YLRRFKCLRT | LSLSRNPISE | AEDYKMFICA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YLPDLMYLDY | RRIDDHTKKL | AEAKHQYSID | ELKHQENLMQ | AQLEDEQAQR | EELEKHKTAF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VEHLNGSFLF | DSMYAEDSEG | NNLSYLPGVG | ELLETYKDKF | VIICVNIFEY | GLKQQEKRKT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELDTFSECVR | EAIQENQEQG | KRKIAKFEEK | HLSSLSAIRE | ELELPNIEKM | ILECSADISE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LFDALMTLEM | QLVEQLEETI | NMFERNIVDM | VGLFIENVQS | LMAQCRDLEN | HHHEKLLEIS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ISTLEKIVEG | DLDEDLPNDL | RALFVDKDTI | VNAVGASHDI | HLLKIDNRED | ELVTRINSWC |
| 490 | 500 | 510 | 520 | ||
| TRLIDRIHKD | EIMRNRKRVK | EINQYIDHMQ | SELDNLECGD | ILD |