Q9NVR5
PR
Gene name |
DNAAF2 |
Protein name |
Protein kintoun |
Names |
Dynein assembly factor 2, axonemal |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55172 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NVR5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NVR5-F1 | Predicted | AlphaFoldDB |
875 variants for Q9NVR5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001217355 CA7173174 rs543582959 |
4 | A>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA339159 rs577796590 RCV001094201 RCV000200209 RCV000252552 |
7 | S>F | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA251489 rs137853191 RCV000000559 RCV000190866 |
8 | S>* | Primary ciliary dyskinesia 10 Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs797045146 RCV000190911 |
11 | E>missing | Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389632806 RCV000704008 rs1566513874 |
20 | V>D | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7173165 rs572322476 RCV000253494 RCV000792505 |
20 | V>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs755978191 RCV002546776 RCV001336429 |
22 | R>Q | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs868381739 CA389632763 RCV001217094 |
25 | S>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000693371 rs765847926 CA7173157 |
40 | A>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000813413 CA389632630 rs1452570914 |
41 | E>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000214391 RCV000384118 CA7173152 RCV001094199 rs116185352 |
48 | N>K | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000795288 RCV002535924 CA7173151 rs749085334 |
52 | Y>H | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1566513759 RCV000698057 CA389632438 |
56 | I>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000081941 CA149014 rs2985684 CA389632366 RCV000614456 RCV001705775 VAR_057788 RCV000329515 |
62 | E>D | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000269742 CA7173141 rs779375480 |
66 | E>K | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000538955 rs1555328130 |
78 | L>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389632223 rs1555328120 RCV000629270 |
87 | R>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001094159 RCV000364322 rs549457480 CA7173137 |
88 | C>Y | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1416652175 CA389632191 RCV000688429 |
92 | V>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs904534333 RCV001219519 |
93 | C>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243208 CA389632135 rs1246371500 |
100 | A>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555328112 RCV000547173 CA389632122 |
102 | S>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7173130 RCV000323237 RCV000733419 rs549781788 RCV001255287 |
111 | R>P | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA260669947 rs931555570 RCV001296975 |
115 | P>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16614444 rs958625302 RCV000470066 |
122 | P>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7173126 RCV002531465 RCV000693289 rs771875922 |
125 | L>P | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7173123 rs771603303 RCV000552958 |
126 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000685157 CA389631967 rs1294565597 |
129 | R>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs752795172 CA7173119 RCV000456977 |
130 | E>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001112303 RCV000876208 rs541232616 CA7173115 |
137 | S>R | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000531101 RCV002490938 rs761527467 CA7173114 |
139 | Y>C | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs572101185 CA7173111 RCV001057737 |
140 | M>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs541765275 RCV000463440 CA7173109 |
142 | Y>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1883290227 RCV001035108 |
143 | D>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389631859 RCV000821602 rs1207595112 |
146 | F>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000798324 rs1594609551 CA389631815 |
152 | A>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688637 CA389631807 rs1302191659 |
154 | A>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555328087 CA389631757 RCV000629423 |
162 | Q>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1208445913 CA389631712 RCV001039409 |
169 | L>P | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs372399039 CA7173094 RCV000556550 RCV002527665 |
177 | G>A | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000534999 CA7173092 rs767502889 |
178 | V>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1227265660 RCV000545088 CA389631634 |
182 | R>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs557931447 CA389631554 RCV000629388 CA7173082 |
194 | G>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1883282453 RCV001320341 |
197 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781591271 RCV000297652 CA7173073 |
206 | P>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA260669198 RCV001349655 rs868693971 RCV002547495 |
211 | A>T | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7173064 rs755099616 RCV000688806 |
216 | E>D | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389631257 rs1594609205 RCV000794031 |
217 | P>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752558578 CA7173057 RCV001314886 |
225 | P>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs566190340 RCV000206515 CA350532 |
226 | Y>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7173053 RCV000703174 rs762538506 |
229 | Q>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555328047 RCV000553577 |
233 | A>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002517542 CA7173050 RCV001041287 rs761407249 RCV000214611 |
233 | A>T | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs776126134 RCV000404651 CA7173046 RCV001094143 |
234 | P>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001094142 COSM1477581 COSM433096 RCV000245254 RCV001551617 RCV000204122 rs74050429 CA348368 |
236 | P>L | Primary ciliary dyskinesia large_intestine Primary ciliary dyskinesia 10 breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770045708 RCV001227847 |
243 | E>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000156150 CA273617 rs727504815 |
243 | E>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7173043 RCV000292351 rs112044935 RCV001094141 RCV001709549 RCV000248790 |
243 | E>A | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001094140 CA7173042 RCV000391959 rs112700048 |
244 | A>E | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7173040 RCV001247006 RCV002520903 rs754858452 RCV000346072 |
245 | A>V | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001856462 CA7173031 rs763643131 RCV001109561 |
260 | R>L | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703045 CA7173028 rs564215636 |
263 | V>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA389630282 RCV000559884 rs1555328022 |
268 | Y>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001094080 rs200291432 CA7173023 RCV000225962 |
275 | A>V | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs777108430 RCV000534068 |
279 | V>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753291588 RCV001056765 CA7173012 CA389630147 |
281 | H>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777195189 RCV001215774 CA7172994 |
313 | K>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7172984 RCV001221355 rs750921798 |
323 | P>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7172979 rs201566715 RCV000819693 COSM1246452 COSM1246453 RCV003145202 RCV003166390 |
328 | D>N | Primary ciliary dyskinesia oesophagus Primary ciliary dyskinesia 10 Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774079854 CA7172978 RCV000629377 |
329 | G>D | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7172967 rs577991424 RCV000558473 |
356 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000537224 CA389629613 rs1382686393 |
357 | P>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001109559 rs1389972313 CA389629606 |
357 | P>L | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16614528 RCV000463601 rs1060503179 |
358 | A>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000547557 rs745419780 |
364 | A>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694257 rs745419780 |
365 | A>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389629422 rs758481481 RCV001109558 |
372 | R>G | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000357725 rs753893107 RCV002504015 CA7172962 |
372 | R>Q | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000380690 RCV001859878 CA10640240 rs886050527 |
374 | G>R | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA389629388 CA7172961 rs764335344 RCV000795976 |
376 | D>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000475207 CA7172960 rs760933549 RCV000592668 |
377 | G>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389629386 RCV001348002 rs1401045306 |
377 | G>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs967364703 RCV001109557 |
379 | A>G | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1176186096 RCV001115185 CA389629329 |
383 | A>T | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000471836 RCV001782957 rs902156961 |
387 | E>missing | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1594608287 RCV000806120 |
402 | T>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000000558 rs397515341 RCV000190873 |
406 | G>missing | Primary ciliary dyskinesia 10 Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525716 RCV003159721 CA7172949 rs746189091 |
410 | S>P | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7172947 rs547345322 RCV000629462 |
418 | P>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886084919 RCV001042808 CA260668424 |
418 | P>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs764194489 CA7172945 RCV001407709 |
425 | A>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002379191 CA7172941 RCV000379966 rs371126037 |
439 | D>H | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002379653 CA7172933 rs185938951 RCV001115184 |
450 | S>I | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7172931 RCV001115183 RCV000514734 RCV001084870 rs137991407 RCV000248061 |
456 | P>L | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202079418 RCV000234267 CA7172923 RCV001094235 |
469 | C>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001094154 RCV000253232 rs150737854 RCV000204061 CA348326 |
469 | C>Y | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001094153 RCV000198347 rs200327783 CA337834 |
473 | R>W | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000629416 rs1555327928 |
479 | S>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566511752 RCV000689895 CA389627464 |
480 | S>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220855 rs372054376 CA7172913 |
481 | A>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA389627439 rs1427910863 RCV000629387 |
482 | G>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000198015 rs141192321 CA337586 |
487 | R>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000319641 RCV000983838 CA7172911 rs200121200 RCV000214384 |
488 | G>E | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002393358 CA7172908 rs367597118 RCV001112203 |
490 | S>G | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375822050 RCV001112202 CA7172898 |
501 | T>M | Variant assessed as Somatic; 0.0 impact. Primary ciliary dyskinesia 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs145008882 RCV003163260 RCV001111758 CA7172889 |
518 | G>R | Primary ciliary dyskinesia 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000614120 rs1555327917 |
519 | E>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7172886 rs199957238 RCV001111757 |
523 | P>L | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001111756 rs144077436 RCV000196382 RCV000173463 CA200549 |
528 | N>K | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7172880 RCV000778407 rs139416233 RCV000802832 |
529 | Q>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777210474 CA7172878 RCV002517541 RCV000217889 |
529 | Q>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000221567 RCV000313737 CA7172874 rs143210369 RCV001215568 |
532 | E>G | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7172871 RCV000551204 rs547924178 |
533 | T>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs201615253 CA7172864 RCV002520902 RCV000402804 |
542 | R>W | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7172845 RCV000312770 rs138511448 RCV001094134 |
563 | A>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001109444 CA7172828 rs181040532 |
594 | A>V | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs756765143 RCV000228253 RCV000612060 CA7172826 |
599 | A>T | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7172821 RCV001109443 RCV001856461 rs768172147 |
609 | R>G | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1883057031 RCV001210147 |
647 | M>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1594603805 CA389624732 RCV000795677 |
654 | I>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000765166 CA7172784 RCV000468312 rs187863107 |
657 | L>F | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001226629 RCV001780157 rs752488141 |
675 | N>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001109441 rs753870133 CA7172760 |
685 | R>G | Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs961303731 CA260662246 RCV000554494 |
712 | I>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001109440 CA7172746 rs80237479 RCV001520875 RCV000244668 |
726 | T>A | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000462515 CA7172742 rs777882844 |
731 | E>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001491315 RCV000863770 CA7172730 rs148936584 |
761 | T>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_024309 RCV000608104 RCV000373426 RCV000347806 RCV001705968 RCV000150422 rs9989177 CA175694 |
768 | D>G | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 Congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1587475 CA389623261 RCV001214449 rs1469795552 COSM1587476 |
772 | E>K | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1363447010 CA389623227 RCV000694304 |
775 | I>K | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000686540 rs778899267 CA7172719 |
780 | E>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs185361306 CA7172710 RCV000307016 RCV001349356 |
794 | T>M | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1882983539 RCV001341379 |
798 | I>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989215 RCV001858703 CA7172702 rs747290752 |
810 | Q>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7172701 rs780416166 RCV000702951 |
810 | Q>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000532009 CA7172699 rs749029870 |
814 | V>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047587 CA389622757 rs777785769 |
817 | I>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389633036 rs1367568045 |
4 | A>E | No |
ClinGen gnomAD |
|
|
CA389633033 rs1367568045 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs1393464338 CA389633026 |
5 | A>E | No |
ClinGen gnomAD |
|
|
CA389633032 rs1457521013 |
5 | A>P | No |
ClinGen gnomAD |
|
|
CA389633031 rs1457521013 |
5 | A>T | No |
ClinGen gnomAD |
|
|
CA389633022 rs1393464338 |
5 | A>V | No |
ClinGen gnomAD |
|
|
CA389633002 rs1448595694 |
7 | S>A | No |
ClinGen TOPMed |
|
|
rs577796590 CA389632997 |
7 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs137853191 CA7173173 |
8 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs137853191 CA389632981 |
8 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260670421 rs867153082 |
9 | S>* | No |
ClinGen TOPMed |
|
|
CA389632966 rs867153082 |
9 | S>L | No |
ClinGen TOPMed |
|
|
rs1330307219 CA389632932 |
12 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 12 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447171565 CA389632901 |
13 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389632880 rs1594610208 |
14 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 14 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs557960968 CA7173170 |
15 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389632849 rs747153076 |
16 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs747153076 CA7173169 |
16 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs199559759 CA260670410 |
17 | G>E | No |
ClinGen 1000Genomes TOPMed |
|
|
rs749065728 CA7173166 |
19 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775655756 CA7173168 |
19 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1225268578 CA389632798 |
21 | Q>E | No |
ClinGen gnomAD |
|
|
rs755978191 CA7173164 |
22 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298518158 CA389632768 |
24 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389632770 rs1298518158 |
24 | T>N | No |
ClinGen gnomAD |
|
|
CA389632772 rs1594610172 |
24 | T>P | No |
ClinGen Ensembl |
|
|
rs868381739 CA389632764 |
25 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs868381739 CA260670367 |
25 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389632755 rs1321309211 |
27 | F>L | No |
ClinGen gnomAD |
|
|
CA7173162 rs377462381 |
29 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA260670351 rs1043562317 |
30 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7173159 rs758890955 |
33 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389632707 rs1453409894 |
34 | R>* | No |
ClinGen gnomAD |
|
|
rs536655604 CA7173158 |
39 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867787430 CA260670312 |
41 | E>* | No |
ClinGen Ensembl |
|
|
CA7173156 rs762189769 |
42 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1345020918 CA389632598 |
43 | L>P | No |
ClinGen gnomAD |
|
|
rs556929804 CA7173154 |
44 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389632562 rs1276860238 |
46 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs537173870 CA260670299 |
46 | P>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA260670298 rs537173870 |
46 | P>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1276860238 CA389632570 |
46 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1328025744 CA389632542 |
47 | E>D | No |
ClinGen gnomAD |
|
|
CA389632551 rs1331489057 |
47 | E>Q | No |
ClinGen gnomAD |
|
|
rs1432527426 CA389632531 |
48 | N>I | No |
ClinGen TOPMed |
|
|
rs1387450921 CA389632539 |
48 | N>Y | No |
ClinGen TOPMed |
|
|
rs7155862 CA260670242 |
49 | R>P | No |
ClinGen TOPMed |
|
|
rs1299752731 CA389632508 |
50 | R>Q | No |
ClinGen TOPMed |
|
|
CA389632505 rs1229050956 |
51 | R>G | No |
ClinGen TOPMed |
|
|
CA389632501 rs1267659419 |
51 | R>H | No |
ClinGen TOPMed |
|
|
rs772951220 CA7173150 |
53 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389632460 rs1215716302 |
54 | A>G | No |
ClinGen TOPMed |
|
|
rs1021747866 CA260670232 |
57 | T>A | No |
ClinGen Ensembl |
|
|
rs769790600 CA7173148 |
58 | A>S | No |
ClinGen ExAC |
|
|
CA7173147 rs748083064 |
58 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484307667 CA389632380 |
60 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389632388 rs1180545101 |
60 | E>K | No |
ClinGen gnomAD |
|
|
CA389632376 rs1253214739 |
61 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1210198501 CA389632375 |
61 | R>H | No |
ClinGen gnomAD |
|
|
CA389632363 rs1220042748 |
63 | R>C | No |
ClinGen gnomAD |
|
|
rs1287479803 CA389632356 |
64 | G>A | No |
ClinGen gnomAD |
|
|
CA7173144 rs779865884 |
64 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173143 rs758061137 |
65 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA389632342 rs1166418211 |
67 | V>M | No |
ClinGen TOPMed |
|
|
rs1436177707 CA389632324 |
69 | F>L | No |
ClinGen TOPMed |
|
|
CA389632330 rs1566513681 |
69 | F>V | No |
ClinGen Ensembl |
|
|
CA389632320 rs1356933464 |
70 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs906587547 CA260670165 CA389632322 |
70 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389632315 rs919591102 |
71 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389632312 rs1037086952 |
71 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA260670163 rs919591102 |
71 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs534863337 CA260670136 |
72 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA389632308 rs534863337 |
72 | P>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA260670134 rs1004740371 |
73 | E>D | No |
ClinGen TOPMed |
|
|
rs1281266717 CA389632306 |
73 | E>K | No |
ClinGen gnomAD |
|
|
rs888453539 CA260670133 |
74 | P>A | No |
ClinGen gnomAD |
|
|
rs888453539 CA389632299 |
74 | P>S | No |
ClinGen gnomAD |
|
|
rs980944471 CA260670130 |
75 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA260670123 rs1048899988 |
76 | H>N | No |
ClinGen TOPMed |
|
|
CA260670121 rs1048899988 |
76 | H>Y | No |
ClinGen TOPMed |
|
|
CA389632273 rs1239283894 |
78 | L>R | No |
ClinGen gnomAD |
|
|
CA389632276 rs1471814583 |
78 | L>V | No |
ClinGen gnomAD |
|
|
CA7173140 rs757622361 |
79 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA389632257 rs1439967167 |
81 | S>T | No |
ClinGen gnomAD |
|
|
CA389632251 rs1471295000 |
82 | L>P | No |
ClinGen TOPMed |
|
|
rs1024818468 CA260670092 |
82 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1183143486 CA389632243 |
83 | D>E | No |
ClinGen TOPMed |
|
|
rs1227666218 CA389632238 |
84 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs566365192 CA7173138 |
84 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389632235 rs1041192624 |
85 | A>P | No |
ClinGen gnomAD |
|
|
CA260670083 rs1041192624 |
85 | A>S | No |
ClinGen gnomAD |
|
|
rs1363954536 CA389632231 |
86 | R>W | No |
ClinGen gnomAD |
|
|
rs752703053 CA7173136 |
88 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1164745713 CA389632205 |
90 | V>L | No |
ClinGen gnomAD |
|
|
CA389632192 rs1416652175 |
92 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs904534333 CA260670049 |
93 | C>Y | No |
ClinGen TOPMed |
|
|
rs977164190 CA260670047 |
96 | A>G | No |
ClinGen TOPMed |
|
|
rs1182493444 CA389632144 |
99 | G>S | No |
ClinGen gnomAD |
|
|
CA389632131 rs1190758307 |
101 | P>S | No |
ClinGen gnomAD |
|
|
CA260670038 rs997340567 |
102 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA389632115 rs1465566069 |
103 | S>I | No |
ClinGen gnomAD |
|
|
rs1291976464 CA389632104 |
105 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389632102 rs1291976464 |
105 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389632105 rs1319822736 |
105 | P>S | No |
ClinGen gnomAD |
|
|
CA7173134 rs759705265 |
106 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389632088 rs1472185709 |
108 | G>A | No |
ClinGen TOPMed |
|
|
CA260669993 rs529603226 |
108 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs563306994 CA7173132 |
110 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7173133 rs774533054 |
110 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs549781788 CA389632071 |
111 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1409395409 CA389632069 |
112 | G>R | No |
ClinGen gnomAD |
|
|
CA389632047 rs1170624456 |
115 | P>L | No |
ClinGen gnomAD |
|
|
CA389632037 rs1416711106 |
117 | S>N | No |
ClinGen TOPMed |
|
|
rs919604642 CA260669938 |
120 | S>P | No |
ClinGen TOPMed |
|
|
rs980425229 CA260669929 |
120 | S>Y | No |
ClinGen TOPMed |
|
|
rs969552686 CA260669922 |
121 | L>P | No |
ClinGen TOPMed |
|
|
CA389631998 rs1594609686 |
123 | Y>C | No |
ClinGen Ensembl |
|
|
rs1487394953 CA389631992 |
124 | S>G | No |
ClinGen gnomAD |
|
|
rs1366257019 CA389631991 |
124 | S>N | No |
ClinGen TOPMed |
|
|
rs1248326846 CA389631987 |
124 | S>R | No |
ClinGen gnomAD |
|
|
CA7173124 rs771603303 |
126 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs745566638 CA7173125 |
126 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs754170049 CA7173122 |
127 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1342396029 CA389631979 |
127 | P>T | No |
ClinGen gnomAD |
|
|
rs1004283663 CA260669826 |
128 | G>C | No |
ClinGen Ensembl |
|
|
CA389631969 rs756604353 |
129 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7173120 rs756604353 |
129 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA389631966 rs1294565597 |
129 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs752795172 CA389631963 |
130 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs1048364248 CA260669783 |
132 | A>T | No |
ClinGen Ensembl |
|
|
rs1309894410 CA389631941 |
133 | G>A | No |
ClinGen gnomAD |
|
|
rs1309894410 CA389631940 |
133 | G>E | No |
ClinGen gnomAD |
|
|
CA389631943 rs1369296094 |
133 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1377233307 CA389631933 |
134 | R>L | No |
ClinGen gnomAD |
|
|
CA7173117 rs759580456 |
135 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431166346 CA389631922 |
136 | S>N | No |
ClinGen gnomAD |
|
|
CA260669746 rs900049390 |
138 | R>C | No |
ClinGen TOPMed |
|
|
CA260669760 rs900049390 |
138 | R>S | No |
ClinGen TOPMed |
|
|
CA389631904 rs1479213926 |
139 | Y>D | No |
ClinGen TOPMed |
|
|
rs572101185 CA7173112 |
140 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389631864 rs1318800955 |
145 | V>L | No |
ClinGen TOPMed |
|
|
CA7173107 rs575918888 |
148 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389631825 rs1438375236 |
150 | A>V | No |
ClinGen TOPMed |
|
|
CA389631822 rs1566513354 |
151 | L>F | No |
ClinGen Ensembl |
|
|
CA389631819 rs1228203410 |
151 | L>R | No |
ClinGen gnomAD |
|
|
CA7173106 rs770546577 |
154 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756448105 CA7173103 |
158 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756448105 CA7173104 |
158 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA389631776 rs1269540715 |
159 | G>C | No |
ClinGen TOPMed |
|
|
CA7173101 rs748691768 |
161 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7173100 rs778406709 |
163 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937010655 CA260669548 |
163 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751601404 CA7173098 |
166 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1254868037 CA389631724 |
167 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389631718 rs1484009236 |
168 | A>S | No |
ClinGen gnomAD |
|
|
CA389631710 rs1208445913 |
169 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA389631708 rs1327545027 |
170 | E>Q | No |
ClinGen gnomAD |
|
|
rs758606806 CA7173097 |
171 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs887292354 CA260669485 |
172 | V>I | No |
ClinGen TOPMed |
|
|
CA7173096 rs753601740 |
173 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260669480 rs1047195978 |
173 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7173095 rs375385938 |
174 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389631675 rs1397901955 |
175 | Q>P | No |
ClinGen gnomAD |
|
|
CA389631664 rs1320173552 |
176 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA389631666 rs1324044626 |
176 | F>S | No |
ClinGen TOPMed |
|
|
rs1380109903 CA389631668 |
176 | F>V | No |
ClinGen gnomAD |
|
|
CA389631659 rs372399039 |
177 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400569599 CA389631661 |
177 | G>R | No |
ClinGen gnomAD |
|
|
CA389631651 rs1454226724 |
179 | K>E | No |
ClinGen gnomAD |
|
|
rs1367856894 CA389631646 |
179 | K>N | No |
ClinGen gnomAD |
|
|
rs773867321 CA7173090 |
180 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA260669408 rs748486341 |
181 | D>E | No |
ClinGen Ensembl |
|
|
CA7173087 rs772707582 |
181 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173088 rs749018309 |
181 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA389631632 rs1250272178 |
182 | R>H | No |
ClinGen gnomAD |
|
|
CA260669398 rs985044750 |
184 | N>D | No |
ClinGen gnomAD |
|
|
rs770210221 CA7173086 |
185 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1566513214 CA389631609 |
186 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 186 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433166302 CA389631593 |
188 | L>P | No |
ClinGen gnomAD |
|
|
CA389631581 rs1382599388 |
190 | A>D | No |
ClinGen gnomAD |
|
|
CA260669353 rs578053535 |
190 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA260669343 rs1027490539 |
191 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7173084 rs781675602 |
191 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA389631567 rs1289685585 |
192 | Y>* | No |
ClinGen TOPMed |
|
|
CA7173083 rs755411847 |
192 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs947786442 CA260669326 |
196 | P>T | No |
ClinGen TOPMed |
|
|
CA389631485 rs1265820367 |
198 | A>V | No |
ClinGen gnomAD |
|
|
CA389631475 rs530058959 |
199 | A>G | No |
ClinGen gnomAD |
|
|
CA389631483 rs1473283387 |
199 | A>T | No |
ClinGen TOPMed |
|
|
CA260669275 rs530058959 |
199 | A>V | No |
ClinGen gnomAD |
|
|
CA260669273 rs991920615 |
200 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1226322286 CA389631442 |
202 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1344533305 CA389631428 |
203 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389631424 rs1344533305 |
203 | T>M | No |
ClinGen gnomAD |
|
|
CA7173075 rs755983549 |
204 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs781591271 CA389631396 |
206 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751429432 CA7173071 |
207 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899830557 CA389631384 CA389631386 |
207 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs899830557 CA260669215 |
207 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs765953447 CA389631373 |
208 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7173070 rs765953447 |
208 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA389631335 rs1427300221 |
211 | A>V | No |
ClinGen gnomAD |
|
|
CA389631332 rs1168150691 |
212 | R>G | No |
ClinGen gnomAD |
|
|
rs772973604 CA7173068 |
212 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772973604 CA389631328 |
212 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762172711 CA7173066 |
215 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481039237 CA389631291 |
215 | G>R | No |
ClinGen gnomAD |
|
|
CA260669155 rs1008470590 |
216 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA389631280 rs1008470590 |
216 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1200087064 CA389631242 |
218 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7173061 rs762694659 |
219 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173062 rs780398296 |
219 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225159932 CA389631225 |
220 | P>S | No |
ClinGen gnomAD |
|
|
rs1218800964 CA389631216 |
221 | L>V | No |
ClinGen gnomAD |
|
|
CA7173060 rs779279663 |
222 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779279663 CA7173059 |
222 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260669127 rs368454436 |
222 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA389631167 rs1371877589 |
223 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1407391068 CA389631174 |
223 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1407391068 CA389631172 |
223 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs757510445 CA7173058 |
224 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA260669064 rs892853177 |
226 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA260669081 rs566190340 |
226 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411791078 CA389631118 |
227 | P>S | No |
ClinGen gnomAD |
|
|
rs1411791078 CA389631121 |
227 | P>T | No |
ClinGen gnomAD |
|
|
CA260669033 rs376557810 |
228 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7173054 rs751664496 |
228 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186991886 CA389631095 |
229 | Q>E | No |
ClinGen gnomAD |
|
|
CA389631049 rs749870969 |
231 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173052 rs749870969 |
231 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389631061 rs1281034951 |
231 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1267354981 CA389631042 |
232 | A>T | No |
ClinGen gnomAD |
|
|
CA7173049 rs776247366 |
233 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772389470 CA389630964 CA7173045 |
235 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389630926 rs951961172 |
237 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs951961172 CA260668961 |
237 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA389630873 rs1171556932 |
239 | P>L | No |
ClinGen TOPMed |
|
|
rs779083314 CA7173044 |
240 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409403452 CA389630820 |
241 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA389630828 rs1459263102 |
241 | P>S | No |
ClinGen gnomAD |
|
|
CA389630806 rs727504815 |
243 | E>K | No |
ClinGen TOPMed |
|
|
CA389630748 rs1232612239 |
245 | A>S | No |
ClinGen TOPMed |
|
|
rs1206645167 CA389630715 |
246 | L>F | No |
ClinGen gnomAD |
|
|
rs1247174033 CA389630725 |
246 | L>S | No |
ClinGen gnomAD |
|
|
rs751253892 CA7173039 |
246 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389630701 COSM1587464 COSM1587463 rs1318625965 |
247 | Q>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA389630698 rs1318625965 |
247 | Q>E | No |
ClinGen gnomAD |
|
|
CA389630668 rs1462931477 |
247 | Q>H | No |
ClinGen Ensembl |
|
|
rs780046342 CA7173038 |
247 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1209522887 CA389630649 |
248 | P>L | No |
ClinGen TOPMed |
|
|
CA260668936 rs964152408 |
248 | P>T | No |
ClinGen Ensembl |
|
|
rs1247676007 CA389630619 |
250 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389630611 rs1594609008 |
251 | T>P | No |
ClinGen Ensembl |
|
|
CA389630603 rs1261896575 |
251 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7173035 rs749958898 |
252 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7173037 rs758230960 |
252 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389630561 rs1184612621 |
253 | P>S | No |
ClinGen TOPMed |
|
|
CA389630513 rs1318916883 |
255 | Y>C | No |
ClinGen gnomAD |
|
|
CA7173034 rs764776688 |
255 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389630495 rs1308881066 |
256 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1198620955 CA389630476 |
257 | V>M | No |
ClinGen TOPMed |
|
|
rs1293060723 CA389630417 |
259 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA389630393 rs763643131 |
260 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753558487 CA7173032 |
260 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389630315 rs1452044433 |
266 | Q>* | No |
ClinGen TOPMed |
|
|
rs1186400886 CA389630302 |
267 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA389630305 rs1295719681 |
267 | D>Y | No |
ClinGen TOPMed |
|
|
rs1386645254 CA389630287 |
268 | Y>C | No |
ClinGen TOPMed |
|
|
rs547213676 CA7173027 |
269 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7173025 rs771199441 |
270 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA260668870 rs903395951 |
270 | C>Y | No |
ClinGen gnomAD |
|
|
CA260668868 rs896171555 |
271 | S>C | No |
ClinGen TOPMed |
|
|
rs1020964534 CA260668866 |
272 | R>T | No |
ClinGen TOPMed |
|
|
rs749366081 CA7173024 |
273 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1380304913 CA389630235 |
273 | D>V | No |
ClinGen gnomAD |
|
|
rs749366081 CA389630241 |
273 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1317622174 CA389630221 |
274 | S>L | No |
ClinGen gnomAD |
|
|
CA389630209 rs1213369057 |
276 | P>A | No |
ClinGen TOPMed |
|
|
rs562712293 CA389630206 |
276 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7173021 rs562712293 |
276 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758192511 CA7173018 |
277 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA389630195 rs758192511 |
277 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7173017 rs745849016 |
278 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs756821929 CA7173015 |
279 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389630156 rs1266707843 |
281 | H>D | No |
ClinGen TOPMed |
|
|
rs1001229027 CA260668811 |
281 | H>L | No |
ClinGen TOPMed |
|
|
CA389630151 rs1001229027 |
281 | H>R | No |
ClinGen TOPMed |
|
|
CA389630130 rs1350765740 |
283 | L>R | No |
ClinGen TOPMed |
|
|
CA7173011 rs201544590 |
283 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752369530 CA7173009 |
284 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs755669775 CA7173010 |
284 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs767808839 CA7173008 |
285 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs767808839 CA389630118 |
285 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1190455692 CA389630113 |
285 | I>T | No |
ClinGen gnomAD |
|
|
CA7173006 rs563799515 |
288 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7173005 rs563799515 |
288 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7173007 rs563799515 |
288 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1222521191 CA389630089 |
288 | E>V | No |
ClinGen gnomAD |
|
|
CA389630082 rs1482450538 |
289 | L>R | No |
ClinGen gnomAD |
|
|
rs1206180875 CA389630067 |
292 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1307773406 CA389630062 |
293 | R>G | No |
ClinGen gnomAD |
|
|
rs1410482235 CA389630059 |
293 | R>P | No |
ClinGen TOPMed |
|
|
rs1307773406 CA389630063 |
293 | R>S | No |
ClinGen gnomAD |
|
|
CA389630050 rs1217877304 |
295 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7173002 rs770076717 |
296 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389630025 rs1348700029 |
298 | A>V | No |
ClinGen gnomAD |
|
|
rs748369356 CA7173001 |
299 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA389630024 rs748369356 |
299 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs946593157 CA260668755 |
299 | A>V | No |
ClinGen TOPMed |
|
|
rs1468058360 CA389629995 |
304 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778838837 CA7172997 |
305 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221527850 CA389629985 |
305 | K>R | No |
ClinGen TOPMed |
|
|
CA389629978 rs1200068091 |
306 | L>P | No |
ClinGen gnomAD |
|
|
CA389629966 rs1248971763 |
308 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA389629961 rs1178484270 |
309 | L>F | No |
ClinGen gnomAD |
|
|
rs1255087523 CA389629956 |
310 | D>H | No |
ClinGen gnomAD |
|
|
CA389629945 rs1205242607 |
311 | S>W | No |
ClinGen TOPMed |
|
|
rs777195189 CA389629935 |
313 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172993 rs367951766 |
314 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389629926 rs1414097987 |
314 | P>R | No |
ClinGen TOPMed |
|
|
rs752358428 CA7172991 |
315 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7172990 rs780883055 |
316 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7172989 rs374063062 |
317 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751906152 CA7172987 |
319 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767024971 CA7172986 |
320 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs763505990 CA7172985 |
322 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA389629883 rs1362035678 |
322 | L>P | No |
ClinGen gnomAD |
|
|
CA389629879 rs1160607608 |
323 | P>S | No |
ClinGen gnomAD |
|
|
CA7172983 rs765275050 |
324 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs776779607 CA7172981 |
325 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776779607 CA389629869 |
325 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562398712 CA260668631 |
326 | V>A | No |
ClinGen 1000Genomes |
|
|
CA7172980 rs376668426 |
326 | V>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA389629845 rs1303620848 |
329 | G>S | No |
ClinGen TOPMed |
|
|
CA389629829 rs1239787606 |
331 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049446175 CA260668620 |
333 | A>G | No |
ClinGen Ensembl |
|
|
CA7172977 rs770686606 |
339 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1198052 rs1244964185 CA389629776 COSM1198053 |
339 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA389629777 rs770686606 |
339 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA389629763 rs1383865575 |
341 | Q>H | No |
ClinGen gnomAD |
|
|
rs777759372 CA7172975 |
341 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1203325195 CA389629752 |
343 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389629754 rs1434134775 |
343 | V>M | No |
ClinGen gnomAD |
|
|
rs769244195 CA7172974 |
344 | V>I | No |
ClinGen ExAC |
|
|
rs1290579101 CA389629739 |
345 | T>M | No |
ClinGen gnomAD |
|
|
CA389629726 rs1454304390 |
346 | L>R | No |
ClinGen gnomAD |
|
|
rs1446046482 CA389629712 |
348 | V>E | No |
ClinGen gnomAD |
|
|
CA7172973 rs747634547 |
348 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264391562 CA389629676 |
351 | P>L | No |
ClinGen gnomAD |
|
|
rs1566512457 CA389629682 |
351 | P>T | No |
ClinGen Ensembl |
|
|
CA389629667 rs1488474050 |
352 | A>P | No |
ClinGen gnomAD |
|
|
CA389629663 rs1263737879 |
352 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7172968 rs758806519 |
353 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1244307777 CA389629650 |
353 | A>V | No |
ClinGen gnomAD |
|
|
CA389629637 rs1360393081 |
355 | R>G | No |
ClinGen gnomAD |
|
|
CA389629634 rs1297175432 |
355 | R>Q | No |
ClinGen gnomAD |
|
|
CA389629619 rs1297524229 |
356 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs577991424 CA260668576 |
356 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389629604 rs1060503179 |
358 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA260668561 rs534835848 |
361 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs572485757 CA7172963 |
366 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 367 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165233490 CA389629482 |
368 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1490539214 CA389629454 |
370 | A>T | No |
ClinGen gnomAD |
|
|
CA389629436 rs1201342366 |
371 | D>Y | No |
ClinGen TOPMed |
|
|
rs753893107 CA389629419 |
372 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758481481 CA260668539 |
372 | R>W | No |
ClinGen TOPMed |
|
|
rs1594608472 CA389629409 |
373 | S>Y | No |
ClinGen Ensembl |
|
|
CA389629402 rs1281311418 |
374 | G>A | No |
ClinGen gnomAD |
|
|
rs760933549 CA260668530 |
377 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407836719 CA389629382 |
378 | Q>E | No |
ClinGen gnomAD |
|
|
rs570366279 CA260668525 |
378 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA389629366 rs1398235755 |
379 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389629370 rs1398235755 |
379 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs967364703 CA260668524 |
379 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389629351 rs1465876742 |
380 | C>F | No |
ClinGen gnomAD |
|
|
CA389629330 rs1283884359 |
382 | S>F | No |
ClinGen TOPMed |
|
|
CA389629318 rs1427747640 |
384 | R>S | No |
ClinGen gnomAD |
|
|
rs1270650531 CA389629299 |
385 | E>* | No |
ClinGen gnomAD |
|
|
CA389629289 rs1481091134 |
385 | E>D | No |
ClinGen gnomAD |
|
|
CA260668523 rs770776545 |
386 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770776545 CA7172958 |
386 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389629274 rs1439733262 |
387 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1251539973 CA389629264 |
387 | E>D | No |
ClinGen gnomAD |
|
|
rs1566512189 CA389629272 |
387 | E>G | No |
ClinGen Ensembl |
|
|
rs1439733262 CA389629278 |
387 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1196098698 CA389629251 |
388 | A>G | No |
ClinGen gnomAD |
|
|
CA389629259 rs1241721232 |
388 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1261094239 CA389629242 |
389 | G>A | No |
ClinGen gnomAD |
|
|
rs1225255300 CA389629234 |
390 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1225255300 CA389629235 |
390 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs957674665 CA389629225 |
391 | A>P | No |
ClinGen TOPMed |
|
|
rs957674665 CA260668503 |
391 | A>S | No |
ClinGen TOPMed |
|
|
rs762793828 CA7172957 |
392 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7172956 rs773034362 |
392 | R>S | No |
ClinGen ExAC |
|
|
rs1043513299 CA260668494 |
393 | S>C | No |
ClinGen TOPMed |
|
|
CA389629189 rs1287125016 |
393 | S>R | No |
ClinGen gnomAD |
|
|
CA7172955 rs769705567 |
394 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA260668493 rs1034904145 |
394 | R>H | No |
ClinGen Ensembl |
|
|
rs747641713 CA7172954 |
395 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780800601 CA7172953 |
395 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs921809772 CA389629169 |
396 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs921809772 CA260668483 |
396 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA389629137 rs1404363594 |
397 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA389629109 rs1470569506 |
399 | G>D | No |
ClinGen gnomAD |
|
|
CA389629119 rs1179090336 |
399 | G>S | No |
ClinGen gnomAD |
|
|
CA389629112 rs1470569506 |
399 | G>V | No |
ClinGen gnomAD |
|
|
rs540114714 CA260668470 |
400 | H>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA389629092 rs1364926032 |
400 | H>R | No |
ClinGen TOPMed |
|
|
CA389629097 rs1156840227 |
400 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389629083 rs1309376977 |
401 | D>N | No |
ClinGen TOPMed |
|
|
CA389629080 rs1309376977 |
401 | D>Y | No |
ClinGen TOPMed |
|
|
CA389628478 rs1594608281 |
403 | C>* | No |
ClinGen Ensembl |
|
|
CA389628482 rs1364532992 |
403 | C>G | No |
ClinGen gnomAD |
|
|
rs779849510 CA7172951 |
405 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779849510 CA389628463 |
405 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758894587 CA7172950 |
407 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA389628421 rs1277446520 |
408 | A>V | No |
ClinGen TOPMed |
|
|
rs570397100 CA260668432 |
411 | G>E | No |
ClinGen 1000Genomes |
|
|
rs1283507680 CA389628377 |
412 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779297300 CA7172948 |
412 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779297300 CA260668428 |
412 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221519847 CA389628351 |
414 | T>I | No |
ClinGen gnomAD |
|
|
rs886084919 CA389628305 |
418 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs886084919 CA260668426 |
418 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs547345322 CA389628310 |
418 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7172946 rs527414146 |
419 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1339056377 CA389628241 |
423 | P>L | No |
ClinGen gnomAD |
|
|
rs1380169223 CA389628247 |
423 | P>S | No |
ClinGen gnomAD |
|
|
rs1196789800 CA389628229 |
424 | P>L | No |
ClinGen gnomAD |
|
|
CA260668401 rs921889109 |
430 | E>K | No |
ClinGen gnomAD |
|
|
CA260668385 rs944530412 |
431 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7172943 rs752971038 |
431 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA389628130 rs1442974795 |
433 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389628077 rs1185151033 |
437 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA389628061 rs1213557289 |
438 | Q>* | No |
ClinGen gnomAD |
|
|
CA7172940 rs773020262 |
439 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs765107813 CA7172939 |
440 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA389628014 rs1341938875 |
441 | S>G | No |
ClinGen TOPMed |
|
|
rs1224174716 CA389628010 |
441 | S>T | No |
ClinGen gnomAD |
|
|
rs190354993 CA260668363 |
443 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389627961 rs1247086952 |
444 | A>V | No |
ClinGen gnomAD |
|
|
CA260668350 rs990180979 |
445 | G>V | No |
ClinGen Ensembl |
|
|
CA389627934 rs1281486524 |
446 | S>L | No |
ClinGen gnomAD |
|
|
CA260668342 rs957834716 |
447 | P>L | No |
ClinGen Ensembl |
|
|
CA389627911 rs1433467790 |
448 | P>L | No |
ClinGen gnomAD |
|
|
rs768349992 CA7172935 |
449 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389627903 rs1422855585 |
449 | G>D | No |
ClinGen gnomAD |
|
|
rs768349992 CA389627905 |
449 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172932 rs771691319 |
452 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs765119356 CA260668314 |
453 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389627809 rs1184598217 |
456 | P>S | No |
ClinGen gnomAD |
|
|
CA260668298 rs1012452891 |
457 | G>V | No |
ClinGen TOPMed |
|
|
rs1566511874 CA389627726 |
461 | S>* | No |
ClinGen Ensembl |
|
|
CA389627715 rs757527838 |
462 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172929 rs757527838 |
462 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260668292 rs1024449397 |
464 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 465 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756198622 CA7172926 |
465 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA389627636 rs1271295410 |
466 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs562335055 CA260668286 |
467 | S>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs562335055 CA389627620 |
467 | S>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs562335055 CA389627628 |
467 | S>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA389627616 rs1469945139 |
468 | P>A | No |
ClinGen TOPMed |
|
|
rs767757948 CA7172924 |
468 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7172922 rs765122166 |
469 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs150737854 CA389627603 |
469 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761510967 CA7172921 |
470 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs776769947 CA7172920 |
470 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA7172919 rs764068164 |
471 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172918 rs760270240 |
472 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201976700 CA260668228 |
477 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1230852048 CA389627488 |
477 | W>* | No |
ClinGen gnomAD |
|
|
CA389627494 rs1199577216 |
477 | W>R | No |
ClinGen gnomAD |
|
|
rs1038961491 CA260668227 |
478 | G>D | No |
ClinGen Ensembl |
|
|
rs944644996 CA260668223 |
479 | S>A | No |
ClinGen TOPMed |
|
|
CA7172915 rs773866816 |
479 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1010660409 CA260668214 |
480 | S>P | No |
ClinGen TOPMed |
|
|
CA389627441 rs1427910863 |
482 | G>E | No |
ClinGen TOPMed |
|
|
rs369837291 CA260668201 |
485 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1390928769 CA389627367 |
486 | A>V | No |
ClinGen gnomAD |
|
|
rs911709236 CA260668162 |
489 | D>G | No |
ClinGen TOPMed |
|
|
CA260668169 rs946095833 |
489 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 489 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172907 rs780127358 |
490 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389627274 rs1418003609 |
492 | V>M | No |
ClinGen gnomAD |
|
|
CA389627245 rs1380958120 |
493 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 493 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178561514 CA389627214 |
495 | R>L | No |
ClinGen gnomAD |
|
|
rs1202220887 CA389627195 |
496 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA260668120 rs752662901 |
496 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172903 rs752662901 |
496 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594607861 CA389627162 |
498 | S>P | No |
ClinGen Ensembl |
|
|
CA7172900 rs774064132 |
499 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs375822050 CA7172899 |
501 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs539768992 CA7172896 |
502 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1450221224 CA389627074 |
503 | G>D | No |
ClinGen gnomAD |
|
|
rs1314047062 CA389627084 |
503 | G>S | No |
ClinGen gnomAD |
|
|
rs748693944 CA7172895 |
504 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 505 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260668078 rs950478553 |
509 | A>G | No |
ClinGen gnomAD |
|
|
CA389626988 rs950478553 |
509 | A>V | No |
ClinGen gnomAD |
|
|
rs571106004 CA7172894 |
510 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7172893 rs768840713 |
511 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389626919 rs1363539864 |
514 | G>R | No |
ClinGen TOPMed |
|
|
CA7172891 rs780331111 |
516 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389626861 rs1384978578 |
517 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs995028884 CA260668060 |
517 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs145008882 CA7172890 |
518 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389626818 rs755965222 |
519 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777764137 CA7172888 |
519 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485202846 CA389626786 |
521 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA389626754 rs199957238 |
523 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169233962 CA389626758 |
523 | P>S | No |
ClinGen gnomAD |
|
|
rs767295918 CA7172885 |
524 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750991792 CA7172883 |
525 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766076539 CA7172882 |
527 | C>S | No |
ClinGen ExAC TOPMed |
|
|
CA389626699 rs766076539 |
527 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
rs553512675 CA7172881 |
528 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389626682 rs553512675 |
528 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139416233 CA7172879 |
529 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777210474 CA389626655 |
529 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7172875 rs775386781 |
530 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA389626639 rs1419786871 |
530 | D>G | No |
ClinGen gnomAD |
|
|
CA389626641 rs146272677 |
530 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419786871 CA389626634 |
530 | D>V | No |
ClinGen gnomAD |
|
|
CA7172876 rs146272677 |
530 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389626626 rs1161272575 |
531 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7172872 rs374369407 |
532 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389626586 rs1427207978 |
533 | T>N | No |
ClinGen gnomAD |
|
|
CA389626591 rs547924178 |
533 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7172866 rs531303883 |
538 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531303883 CA7172867 |
538 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 539 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389626472 rs1360483684 |
540 | V>M | No |
ClinGen gnomAD |
|
|
rs757899121 CA7172865 |
541 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201615253 CA389626449 |
542 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389626436 rs762244108 |
543 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7172862 rs762244108 |
543 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776822920 CA7172861 |
543 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs761139069 CA7172859 |
545 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7172858 rs776038385 |
546 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7172857 rs772331712 |
547 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs774716361 CA7172855 |
548 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774716361 CA260667843 |
548 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771235915 CA7172854 |
549 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1312895297 CA389626337 |
551 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389626321 rs1452350738 |
553 | N>T | No |
ClinGen gnomAD |
|
|
CA7172850 rs754770601 |
555 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746985509 CA7172849 |
556 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1566511448 CA389626304 |
556 | W>R | No |
ClinGen Ensembl |
|
|
rs1259830005 CA389626277 |
559 | L>* | No |
ClinGen gnomAD |
|
|
rs950277659 CA260667804 |
559 | L>F | No |
ClinGen Ensembl |
|
|
rs757917532 CA389626272 |
560 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172847 rs757917532 |
560 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3419824 rs1224853450 COSM3419825 CA389626257 |
562 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA389626261 rs1185071018 |
562 | S>P | No |
ClinGen TOPMed |
|
|
CA389626256 rs138511448 |
563 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs899111621 CA389626236 |
565 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1182234462 CA389626240 |
565 | D>G | No |
ClinGen TOPMed |
|
|
CA389626230 rs1410599329 |
566 | L>F | No |
ClinGen TOPMed |
|
|
rs1469715969 CA389626225 |
567 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs764410458 CA7172842 |
567 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7172843 rs764410458 |
567 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA389626212 rs983991011 |
569 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs983991011 CA260667788 |
569 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs950904740 CA260667782 |
571 | F>C | No |
ClinGen Ensembl |
|
|
CA389626187 rs1594607529 |
573 | Q>* | No |
ClinGen Ensembl |
|
|
CA389626168 rs1363359355 |
575 | A>V | No |
ClinGen gnomAD |
|
|
rs1179928295 CA389626166 |
576 | P>A | No |
ClinGen gnomAD |
|
|
CA7172839 COSM1587468 COSM1587467 rs768082306 |
577 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1239753831 CA389626160 |
577 | E>Q | No |
ClinGen gnomAD |
|
|
CA7172838 rs759713976 |
578 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA260667710 rs941380561 |
579 | K>E | No |
ClinGen TOPMed |
|
|
rs377351035 CA389626145 |
579 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1587470 COSM1587469 rs377351035 CA7172837 |
579 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7172834 rs763134667 |
582 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7172833 rs532320730 |
583 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389626103 rs1337210929 |
585 | P>L | No |
ClinGen gnomAD |
|
|
rs768402122 CA7172832 |
588 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746751400 CA7172831 |
591 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 592 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172830 rs779979566 |
593 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA389626053 rs1415614186 |
593 | N>S | No |
ClinGen gnomAD |
|
|
rs1471253741 CA389626044 |
595 | V>M | No |
ClinGen gnomAD |
|
|
rs1023009575 CA260667656 |
599 | A>V | No |
ClinGen TOPMed |
|
|
rs1186449807 CA389626003 |
601 | S>Y | No |
ClinGen TOPMed |
|
|
rs777421659 CA7172824 |
602 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1009935330 CA389625989 |
603 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1405675478 CA389625981 |
604 | S>R | No |
ClinGen TOPMed |
|
|
rs756451865 CA7172823 |
605 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA260667639 rs964761675 |
605 | H>Y | No |
ClinGen TOPMed |
|
|
rs753065418 CA7172822 |
607 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286286026 CA389625947 |
609 | R>S | No |
ClinGen gnomAD |
|
|
CA389625938 rs1245623100 |
610 | E>D | No |
ClinGen gnomAD |
|
|
CA389625936 rs1346763339 |
611 | W>R | No |
ClinGen TOPMed |
|
|
rs752092329 CA7172819 |
614 | G>D | No |
ClinGen ExAC |
|
|
CA260667592 rs893641161 |
615 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 615 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449373224 CA389625907 |
615 | V>I | No |
ClinGen gnomAD |
|
|
rs766427624 CA7172818 |
616 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7172817 rs763084436 |
616 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 618 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389625877 rs1224874110 |
619 | S>F | No |
ClinGen TOPMed |
|
|
CA389624976 rs1248099164 |
627 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1017925273 CA260664903 |
629 | E>K | No |
ClinGen Ensembl |
|
|
CA389624934 rs1222698212 |
630 | N>D | No |
ClinGen gnomAD |
|
|
CA260664888 rs183126428 |
631 | V>I | No |
ClinGen 1000Genomes |
|
|
rs1437599085 CA389624906 |
632 | N>S | No |
ClinGen gnomAD |
|
|
rs987428901 CA260664883 |
636 | E>A | No |
ClinGen Ensembl |
|
|
CA7172793 rs767355281 |
637 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389624844 rs1186172918 |
637 | E>K | No |
ClinGen TOPMed |
|
|
CA389624816 rs1168897132 |
641 | S>A | No |
ClinGen TOPMed |
|
|
CA389624810 rs1406426981 |
642 | P>A | No |
ClinGen gnomAD |
|
|
rs748782316 CA7172789 |
644 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172790 rs770857109 |
644 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7172788 rs772821072 |
646 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1467078322 CA389624766 |
648 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA389624765 rs1467078322 |
648 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs147299791 CA7172787 |
650 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147299791 CA389624753 |
650 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389624752 rs1426732761 |
651 | P>A | No |
ClinGen gnomAD |
|
|
CA389624751 rs1426732761 |
651 | P>T | No |
ClinGen gnomAD |
|
|
rs755398756 CA7172785 |
654 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 659 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172782 rs758897357 |
661 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750862803 CA7172781 |
668 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA389624630 rs1156861112 |
669 | K>E | No |
ClinGen gnomAD |
|
|
CA7172766 rs780505170 |
673 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs530316059 CA7172765 |
675 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560565818 CA7172763 |
676 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953564439 CA260662297 |
679 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA389624326 rs953564439 |
679 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1327825114 CA389624311 |
681 | G>E | No |
ClinGen gnomAD |
|
|
rs1384966579 CA389624314 |
681 | G>R | No |
ClinGen gnomAD |
|
|
CA7172761 rs757329899 |
683 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs990607749 CA260662284 |
685 | R>S | No |
ClinGen gnomAD |
|
|
CA260662289 rs1031008030 |
685 | R>T | No |
ClinGen TOPMed |
|
|
rs764335300 CA7172759 |
688 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389624259 rs1165216735 |
689 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 691 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960358051 CA260662278 |
691 | H>N | No |
ClinGen Ensembl |
|
|
rs1566507743 CA389624235 |
692 | L>Q | No |
ClinGen Ensembl |
|
|
rs1217587057 CA389624220 |
694 | E>D | No |
ClinGen gnomAD |
|
|
CA389624218 rs1359056891 |
695 | K>E | No |
ClinGen gnomAD |
|
|
rs1290696027 CA389624215 |
695 | K>R | No |
ClinGen gnomAD |
|
|
CA389624203 rs1283374089 |
696 | E>D | No |
ClinGen gnomAD |
|
|
rs752843068 CA7172757 |
698 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1224909457 CA389624193 |
698 | I>V | No |
ClinGen gnomAD |
|
|
rs1337764174 CA389624167 |
701 | C>F | No |
ClinGen gnomAD |
|
|
CA7172751 rs184785915 |
704 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7172752 rs765208724 |
704 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 706 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 713 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172750 rs776240270 |
713 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768249542 CA7172749 |
715 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389624073 rs1477152193 |
716 | A>E | No |
ClinGen gnomAD |
|
|
rs1005786830 CA260662213 |
722 | F>L | No |
ClinGen Ensembl |
|
|
rs746148180 CA389624005 |
726 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1188814 rs746148180 COSM1188815 CA7172745 |
726 | T>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7172743 rs771391643 |
727 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260662196 rs200853521 |
727 | C>W | No |
ClinGen 1000Genomes ESP gnomAD |
|
|
rs147110554 CA389623984 |
729 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389623978 rs1594602290 |
730 | Q>R | No |
ClinGen Ensembl |
|
|
rs756137130 CA7172741 |
732 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236486414 CA389623951 |
734 | D>E | No |
ClinGen TOPMed |
|
|
CA7172739 rs781206206 |
734 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1391868341 CA389623946 |
735 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7172738 rs553179519 |
735 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389623934 rs1464478551 |
737 | Q>R | No |
ClinGen gnomAD |
|
|
rs727502965 CA175696 RCV000150423 |
738 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765296644 CA7172736 |
739 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7172735 rs761881387 |
742 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937203764 CA260662145 |
742 | K>R | No |
ClinGen TOPMed |
|
|
rs753804049 CA7172734 |
747 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369112997 CA7172733 |
748 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267757441 CA389623814 |
750 | M>V | No |
ClinGen gnomAD |
|
|
rs1197800791 CA389623781 |
752 | S>A | No |
ClinGen gnomAD |
|
|
CA389623761 rs1259935665 |
753 | E>D | No |
ClinGen gnomAD |
|
|
CA260662135 rs867540290 |
753 | E>K | No |
ClinGen gnomAD |
|
|
rs901815790 CA260662127 |
757 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 759 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172731 rs148936584 |
761 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771265342 CA7172728 CA260662098 |
770 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7172725 rs778249969 |
772 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389623242 rs1566507554 |
773 | S>L | No |
ClinGen Ensembl |
|
|
CA389623238 rs769923434 |
774 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7172724 rs769923434 |
774 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA260662061 rs1044010358 |
775 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7172723 rs748119712 |
776 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389623175 rs778899267 |
780 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7172718 rs778899267 |
780 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256234033 CA389623159 |
781 | T>I | No |
ClinGen TOPMed |
|
|
rs150184253 CA7172717 |
782 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7172716 rs753890130 |
783 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1345203982 CA389623126 |
785 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1237581732 CA389623089 |
788 | S>* | No |
ClinGen gnomAD |
|
|
rs767025542 CA7172712 |
792 | K>E | No |
ClinGen ExAC |
|
|
rs990942354 CA260662031 |
792 | K>R | No |
ClinGen Ensembl |
|
|
rs759164637 CA7172711 |
794 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 795 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384426642 CA389623005 |
796 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389622991 rs1421408621 |
797 | N>D | No |
ClinGen TOPMed |
|
|
CA7172707 rs773724433 |
798 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927591121 CA260662017 |
800 | G>A | No |
ClinGen Ensembl |
|
|
rs1235666808 CA389622937 |
802 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 804 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7172705 rs748292394 |
804 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261922828 CA389622900 |
805 | K>E | No |
ClinGen gnomAD |
|
|
CA389622869 rs1355465199 |
807 | T>I | No |
ClinGen gnomAD |
|
|
rs1287126715 CA389622846 |
809 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs747290752 CA260662005 |
810 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs750872490 CA260661995 |
812 | G>D | No |
ClinGen Ensembl |
|
|
CA389622815 rs1268790474 |
812 | G>S | No |
ClinGen gnomAD |
|
|
rs1384255577 CA389622764 |
816 | V>A | No |
ClinGen gnomAD |
|
|
rs1566507420 CA389622768 |
816 | V>I | No |
ClinGen Ensembl |
|
|
CA7172698 rs777785769 |
817 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7172697 rs756050427 |
818 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361447542 CA389622732 |
819 | D>G | No |
ClinGen gnomAD |
|
|
CA389622736 rs1402029192 |
819 | D>H | No |
ClinGen gnomAD |
|
|
CA389622735 rs1402029192 |
819 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 820 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389622718 rs1298514705 |
820 | H>R | No |
ClinGen gnomAD |
|
|
CA389622642 rs1422251355 |
827 | S>G | No |
ClinGen gnomAD |
|
|
rs751218274 CA7172693 |
829 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7172692 rs765960374 |
830 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263457106 CA389622602 |
830 | N>S | No |
ClinGen gnomAD |
|
|
rs1450234228 CA389622575 |
833 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs368195964 CA7172690 |
835 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765604726 CA7172689 |
837 | D>Y | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9NVR5
[MIM: 612518]: Ciliary dyskinesia, primary, 10 (CILD10)
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:19052621, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:19052621, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chaperone complex | A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dynein axonemal particle | An aggregation of axonemal dyneins, their specific assembly factors, and broadly-acting chaperones that is located in the cytoplasm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| axonemal dynein complex assembly | The aggregation, arrangement and bonding together of a set of components to form an axonemal dynein complex, a dynein complex found in eukaryotic cilia and flagella, in which the motor domain heads interact with adjacent microtubules to generate a sliding force which is converted to a bending motion. |
| cilium-dependent cell motility | Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| epithelial cilium movement involved in extracellular fluid movement | The directed, self-propelled movement of cilia of epithelial cells. Depending on the type of cell, there may be one or many cilia per cell. This movement is usually coordinated between many epithelial cells, and serves to move extracellular fluid. |
| establishment of left/right asymmetry | The initial formation of the type asymmetry in an organism's body plan or part of an organism with respect to the left and right halves. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| inner dynein arm assembly | The aggregation, arrangement and bonding together of a set of components to form an axonemal dynein inner arm, an inner arm structure present on the outer doublet microtubules of ciliary and flagellar axonemes. |
| outer dynein arm assembly | The aggregation, arrangement and bonding together of a set of components to form an axonemal dynein outer arm, an outer arm structure present on the outer doublet microtubules of ciliary and flagellar axonemes. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| response to retinoic acid | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKAAASSSL | EDLDLSGEEV | QRLTSAFQDP | EFRRMFSQYA | EELTDPENRR | RYEAEITALE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RERGVEVRFV | HPEPGHVLRT | SLDGARRCFV | NVCSNALVGA | PSSRPGSGGD | RGAAPGSHWS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPYSLAPGRE | YAGRSSSRYM | VYDVVFHPDA | LALARRHEGF | RQMLDATALE | AVEKQFGVKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DRRNAKTLKA | KYKGTPEAAV | LRTPLPGVIP | ARPDGEPKGP | LPDFPYPYQY | PAAPGPRAPS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PPEAALQPAP | TEPRYSVVQR | HHVDLQDYRC | SRDSAPSPVP | HELVITIELP | LLRSAEQAAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVTRKLLCLD | SRKPDYRLRL | SLPYPVDDGR | GKAQFNKARR | QLVVTLPVVL | PAARREPAVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VAAAAPEESA | DRSGTDGQAC | ASAREGEAGP | ARSRAEDGGH | DTCVAGAAGS | GVTTLGDPEV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| APPPAAAGEE | RVPKPGEQDL | SRHAGSPPGS | VEEPSPGGEN | SPGGGGSPCL | SSRSLAWGSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AGRESARGDS | SVETREESEG | TGGQRSACAM | GGPGTKSGEP | LCPPLLCNQD | KETLTLLIQV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PRIQPQSLQG | DLNPLWYKLR | FSAQDLVYSF | FLQFAPENKL | STTEPVISIS | SNNAVIELAK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SPESHGHWRE | WYYGVNNDSL | EERLFVNEEN | VNEFLEEVLS | SPFKQSMSLT | PPLIEVLQVT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DNKIQINAKL | QECSNSDQLQ | GKEERVNEES | HLTEKEYIEH | CNTPTTDSDS | SIAVKALQID |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SFGLVTCFQQ | ESLDVSQMIL | GKSQQPESKM | QSEFIKEKSA | TCSNEEKDNL | NESVITEEKE |
| 790 | 800 | 810 | 820 | 830 | |
| TDGDHLSSLL | NKTTVHNIPG | FDSIKETNMQ | DGSVQVIKDH | VTNCAFSFQN | SLLYDLD |