Q9UI46
PR
Gene name |
DNAI1 |
Protein name |
Dynein axonemal intermediate chain 1 |
Names |
Axonemal dynein intermediate chain 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27019 |
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 Q9UI46
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | m1/o1/q1/s1 | 1-699 | PDB |
| AF-Q9UI46-F1 | Predicted | AlphaFoldDB |
629 variants for Q9UI46
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002491714 CA5033871 RCV001226234 rs11547035 |
8 | A>P | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_016774 RCV001719973 RCV000377917 RCV000155521 rs11547035 CA182956 |
8 | A>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146501326 CA5033876 RCV000703682 |
14 | H>Y | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000458049 RCV000216654 rs148701985 CA5033878 |
16 | Q>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000005954 RCV001266708 RCV000790798 RCV000230151 rs397515363 |
17 | S>V | Primary ciliary dyskinesia Kartagener syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002563974 CA5033935 RCV001240410 rs553371109 |
40 | D>G | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1060503495 RCV000466842 |
53 | D>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1196979432 RCV001214751 |
55 | L>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000150494 CA175816 RCV000347669 VAR_033876 RCV001709501 rs16931549 |
60 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA373242322 RCV001167860 rs1354143118 |
61 | E>K | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001167861 CA5033974 rs771320807 |
68 | R>Q | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001279900 rs760014707 |
76 | H>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564031598 RCV000690576 CA373242671 |
82 | V>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000005955 rs606231164 |
95 | G>missing | Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327645 rs1824535486 |
109 | N>D | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201313023 CA5034013 RCV000546509 |
112 | P>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000872281 CA5034014 rs367903999 |
113 | K>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs876657683 RCV000216627 |
114 | D>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147909279 CA5034015 RCV000801336 |
114 | D>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141704318 RCV000155522 RCV000473851 CA182958 |
119 | R>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5034019 rs370391949 RCV001167863 |
119 | R>W | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000289374 CA5034022 RCV001240811 rs375547221 |
120 | R>Q | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001169736 RCV000694534 rs766328772 COSM1462128 CA5034021 |
120 | R>W | Primary ciliary dyskinesia large_intestine Kartagener syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16612798 rs1060503514 RCV000457127 |
122 | H>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000178924 RCV001095357 CA246122 COSM172397 RCV000233417 rs116938457 |
124 | R>C | Primary ciliary dyskinesia large_intestine Kartagener syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs759257177 COSM280519 RCV001239313 CA5034024 |
124 | R>H | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA373245261 rs1403317407 RCV001169737 |
129 | A>T | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000530972 rs149230619 CA5034063 |
159 | S>N | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000629286 rs1554687745 CA373246259 |
162 | D>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208162 rs1400236913 CA373246584 |
173 | T>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001756128 RCV000666986 rs141157671 RCV000860525 CA5034094 |
174 | E>K | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs878854967 RCV000233018 RCV000668929 RCV000862735 |
176 | E>missing | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232528 rs1824564325 |
182 | Q>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA373246837 rs1236356655 RCV000811798 |
184 | K>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000860822 rs146203427 CA5034102 RCV001165754 |
184 | K>R | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001048567 rs191840487 CA5034103 |
189 | T>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752018316 CA5034108 RCV001165755 |
205 | P>R | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749119217 CA5034109 RCV000793008 |
207 | R>W | Primary ciliary dyskinesia Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5034127 RCV000629374 rs769224534 |
209 | R>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002275027 rs201754555 RCV002356503 CA5034133 RCV000368210 |
213 | T>M | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755122846 RCV001231258 CA5034135 |
215 | P>L | Primary ciliary dyskinesia Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001218221 rs1824592383 |
216 | P>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886063882 RCV000300565 CA10627267 |
217 | P>A | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001165756 CA5034144 RCV001859066 rs769349211 |
226 | N>H | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747538328 RCV000794711 CA5034168 |
233 | A>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1824644753 RCV001043769 |
237 | E>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs999905460 CA373249080 RCV000706037 CA192632149 |
240 | K>N | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
RCV001859067 rs775818668 RCV001165757 CA5034173 |
243 | K>E | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA373249368 RCV001039429 rs1299113119 |
261 | M>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000629476 rs1228318421 CA373249387 RCV003162788 |
263 | M>T | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001245114 CA5034180 rs755853256 |
264 | R>K | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1824648112 RCV001206340 |
268 | S>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202213517 CA348962 RCV000754880 RCV000204755 |
288 | R>W | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1824742637 RCV001279903 |
291 | N>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10582661 rs878854968 RCV000232560 |
304 | Y>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000560410 rs772207177 CA373253089 |
306 | D>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5034232 rs773243879 RCV001167341 |
307 | D>N | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5034240 RCV000227513 VAR_033877 rs16931555 RCV001095330 RCV000243446 |
326 | Q>H | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5034241 rs182015909 RCV002491801 RCV001241013 |
332 | R>S | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000995536 RCV000629513 CA5034245 rs11793196 |
335 | V>F | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_033878 RCV000150495 CA175818 RCV000607144 RCV001705997 RCV000315714 rs11793196 |
335 | V>I | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1319380844 RCV000819950 CA373253362 |
336 | T>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000521256 CA5034294 rs372361587 RCV001834687 |
362 | R>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349605 CA5034293 rs147893084 |
362 | R>W | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5034303 RCV000764832 RCV000559024 rs141690214 |
382 | S>N | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1824938179 RCV001241934 |
384 | S>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5034308 RCV000537333 rs565923150 |
386 | V>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001255241 CA5034310 rs767667443 |
388 | C>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000800816 CA5034309 RCV001167342 rs767667443 |
388 | C>Y | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5034314 rs151097256 RCV000543550 |
391 | I>M | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141089746 RCV000243246 RCV000860520 COSM1108469 CA5034315 |
393 | V>M | Primary ciliary dyskinesia endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001782959 RCV000473781 rs1060503515 |
397 | Y>missing | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244888 RCV000266377 CA5034317 rs150261456 |
399 | V>M | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002526466 CA5034319 rs746647838 RCV000466629 |
402 | G>S | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs926347298 RCV001224667 CA192646101 |
404 | Y>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs794727103 RCV002470792 CA240119 RCV000174572 RCV000696257 |
408 | V>M | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1056525406 CA192646159 RCV000690263 |
412 | N>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1256336794 RCV000629494 CA373257486 |
422 | F>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000558231 rs567346433 RCV000666258 |
422 | F>missing | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756877115 RCV000321889 RCV000669775 CA5034339 |
431 | H>D | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5034342 RCV002500798 RCV000228761 rs769284314 |
436 | W>* | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000694022 CA5034362 rs148810969 |
451 | F>Y | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1370523337 RCV001245468 |
462 | S>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338779 rs1437841728 CA373260419 |
462 | S>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs189377425 CA5034398 RCV001167943 RCV001246484 |
469 | K>N | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199774301 RCV000818158 CA5034400 |
473 | I>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5034406 rs137935543 COSM171068 RCV001167944 RCV000691726 |
485 | T>M | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. large_intestine Kartagener syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000150496 RCV000665899 RCV000376486 CA175820 RCV001540244 rs11999454 VAR_033879 |
487 | V>G | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376252276 RCV000536539 RCV000055932 CA345040 |
497 | G>D | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1212462636 RCV001062811 CA373261468 |
497 | G>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA373261583 rs1412970451 RCV000689958 |
499 | G>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1825102855 RCV001201947 |
501 | A>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5034436 RCV000629613 rs148238282 RCV001169803 |
508 | I>T | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751920647 RCV000691848 |
509 | D>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554691352 RCV000551320 CA373261770 |
513 | L>P | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468431 CA253533 rs79833450 RCV000005956 VAR_016775 COSM753569 |
515 | G>S | lung Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. Kartagener syndrome KTGS [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000327821 RCV000155523 CA182960 RCV001706052 rs76334696 |
535 | T>N | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144611423 RCV000806906 CA5034479 |
536 | Y>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368248592 COSM753568 RCV000707353 RCV001706703 CA5034482 |
538 | A>T | lung Primary ciliary dyskinesia Kartagener syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5034487 RCV000763195 RCV000231603 rs200669099 |
548 | W>* | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000005957 rs606231165 |
553 | T>missing | Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA373263651 rs1554691490 RCV000550555 |
556 | F>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001304661 CA373263708 rs1335386227 |
559 | C>Y | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001333655 rs139953639 CA5034497 RCV000792439 |
565 | V>M | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000528810 rs1554691495 CA373263885 |
567 | I>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772686744 RCV000539548 CA5034499 RCV000379019 |
568 | W>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA373263955 RCV001323039 rs1206542308 |
571 | T>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002490937 CA5034527 RCV000554289 rs760852851 |
579 | Y>C | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5034535 RCV001248471 rs751197523 RCV001169805 |
591 | A>V | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000592856 rs397515563 RCV000055933 RCV000698002 |
607 | A>missing | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000458711 RCV002496788 CA5034561 rs148762102 RCV003168858 |
608 | H>N | Primary ciliary dyskinesia Kartagener syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA175822 RCV000150497 rs727502978 RCV000673602 |
609 | I>L | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001255242 rs1825188115 |
623 | Q>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000864823 CA5034569 rs565034311 |
626 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1825189052 RCV001237426 |
634 | H>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000732753 CA5034578 rs201773877 RCV001242464 RCV000287973 |
638 | N>S | Primary ciliary dyskinesia Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1108475 RCV000199193 RCV000665810 rs140820295 RCV001327957 RCV001283733 CA338457 |
650 | R>C | Primary ciliary dyskinesia Male infertility Infertility large_intestine endometrium Kartagener syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002422451 CA5034594 COSM1462132 rs564706097 RCV000665948 |
663 | R>C | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. large_intestine Kartagener syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000401036 rs560719255 CA5034595 |
667 | K>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5034613 rs556105721 RCV001165831 |
677 | G>S | Kartagener syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs111887810 CA192655534 RCV000823441 |
679 | A>P | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5034615 RCV000531761 rs138460682 |
682 | I>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001165832 rs535760702 RCV002557421 CA5034616 |
683 | A>V | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. Kartagener syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762886409 CA5033868 |
3 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192652393 rs112930490 |
5 | S>P | No |
ClinGen Ensembl |
|
|
CA373247779 rs1247890260 |
7 | K>T | No |
ClinGen gnomAD |
|
|
CA5033872 rs750045804 |
9 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372656672 CA5033874 |
10 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753202925 CA5033875 |
11 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA373247860 rs1348588174 |
13 | P>S | No |
ClinGen TOPMed |
|
|
CA5033877 rs547949645 |
15 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373240474 rs1159341227 |
18 | I>M | No |
ClinGen gnomAD |
|
|
rs934522385 CA192625823 |
18 | I>N | No |
ClinGen TOPMed |
|
|
CA373240507 rs1382196910 |
20 | I>T | No |
ClinGen gnomAD |
|
|
rs1564030939 CA373240534 |
21 | G>A | No |
ClinGen Ensembl |
|
|
CA5033906 rs773137911 |
21 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760444279 CA5033907 |
23 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA192625834 rs914692585 |
24 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373240647 rs1587066068 |
26 | K>T | No |
ClinGen Ensembl |
|
|
CA5033908 rs766037434 |
27 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs868374518 CA192625840 |
27 | R>S | No |
ClinGen Ensembl |
|
|
rs770595027 CA5033929 |
28 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA373241746 rs1484370915 |
28 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1398719208 CA373241819 |
32 | G>E | No |
ClinGen gnomAD |
|
|
CA5033931 rs759050063 |
34 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764858104 CA5033932 |
36 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5033934 rs142794994 |
37 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373241887 rs142794994 |
37 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373241881 rs1272888567 |
37 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373241960 rs1456384461 |
42 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185480184 CA192626630 |
47 | A>T | No |
ClinGen 1000Genomes |
|
|
CA192626639 rs982352549 |
49 | V>I | No |
ClinGen TOPMed |
|
|
rs761130476 CA5033937 |
51 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766583582 CA5033938 |
52 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1483775358 CA373242120 |
53 | D>A | No |
ClinGen TOPMed |
|
|
CA373242128 rs1245267437 |
53 | D>E | No |
ClinGen TOPMed |
|
|
rs754149521 CA5033939 |
55 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA5033940 rs755152825 |
56 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565990305 CA5033944 |
59 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5033943 rs565990305 |
59 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA373242236 rs16931549 |
60 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1280964647 CA373242361 |
63 | K>R | No |
ClinGen TOPMed |
|
|
rs1023413642 CA192626861 |
65 | E>* | No |
ClinGen Ensembl |
|
|
CA5033971 rs776213652 |
65 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA373242425 rs1422515903 |
66 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373242451 rs1334680814 |
67 | T>I | No |
ClinGen TOPMed |
|
|
CA373242440 rs1220328169 |
67 | T>S | No |
ClinGen gnomAD |
|
|
CA5033973 rs759540568 |
68 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160131333 CA373242529 |
73 | N>S | No |
ClinGen gnomAD |
|
|
CA192626889 rs994065901 |
75 | P>L | No |
ClinGen TOPMed |
|
|
rs777147486 CA5033975 |
76 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA192626895 rs981380392 |
76 | H>R | No |
ClinGen Ensembl |
|
|
CA5033977 rs765635363 |
77 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369540171 CA5033978 |
77 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192626913 rs928908774 |
78 | P>S | No |
ClinGen Ensembl |
|
|
CA5033979 rs763257757 |
79 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373242615 rs763257757 |
79 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5033980 rs375988210 |
81 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373242686 rs1377794195 |
83 | R>K | No |
ClinGen gnomAD |
|
|
rs1242377984 CA373242727 |
85 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5033981 rs376483151 |
86 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5034002 rs767566929 |
88 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759112719 CA192629025 |
90 | T>K | No |
ClinGen Ensembl |
|
|
CA863449919 rs1416324075 |
91 | Y>* | No |
ClinGen TOPMed |
|
|
rs750339250 CA5034003 |
91 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034006 rs753609713 |
93 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356887733 CA373244391 |
94 | I>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1290612645 CA373244412 |
95 | G>S | No |
ClinGen TOPMed |
|
|
CA192629050 rs894465418 |
100 | L>P | No |
ClinGen TOPMed |
|
|
CA373244614 rs1241446152 |
102 | V>A | No |
ClinGen gnomAD |
|
|
CA192629057 rs1055150779 |
103 | H>Q | No |
ClinGen Ensembl |
|
|
CA5034010 rs757864928 |
103 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1392998956 CA373244662 |
104 | Y>C | No |
ClinGen gnomAD |
|
|
CA373244658 rs1185555366 |
104 | Y>H | No |
ClinGen gnomAD |
|
|
CA5034011 rs777327015 |
106 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5034012 rs746448168 |
107 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA373244884 rs1399327107 |
111 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373244871 rs1387343237 |
111 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373244948 rs1564032724 |
114 | D>N | No |
ClinGen Ensembl |
|
|
rs376585656 CA5034017 COSM3413623 |
116 | D>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA5034016 rs769021024 |
116 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5034018 rs762035766 |
118 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5034020 rs141704318 |
119 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373245063 rs766328772 |
120 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116938457 CA373245150 |
124 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs886043759 RCV000281584 |
125 | D>missing | No |
ClinVar dbSNP |
|
|
COSM3433105 CA5034026 rs752354598 |
125 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs548253976 CA5034028 |
128 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548253976 CA5034029 |
128 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471136948 CA373245270 |
129 | A>G | No |
ClinGen gnomAD |
|
|
CA373245265 rs1403317407 |
129 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5034048 rs780790033 |
134 | S>A | No |
ClinGen ExAC |
|
| TCGA novel | 135 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754452989 CA5034049 |
135 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1564032958 CA373245691 |
138 | I>T | No |
ClinGen Ensembl |
|
|
CA5034050 rs755504398 |
139 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034051 rs779195390 |
140 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160125945 CA373245766 |
141 | T>K | No |
ClinGen TOPMed |
|
|
rs747643208 CA192629513 |
143 | N>K | No |
ClinGen Ensembl |
|
|
rs748568486 CA5034052 |
144 | L>V | No |
ClinGen ExAC |
|
|
rs777977555 CA5034054 |
145 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034055 rs747180437 |
146 | E>A | No |
ClinGen ExAC |
|
|
rs1490899457 CA373245888 |
146 | E>D | No |
ClinGen gnomAD |
|
|
CA5034058 rs374753293 |
147 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771058822 CA5034056 |
147 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA373245938 rs1173194909 |
148 | E>G | No |
ClinGen gnomAD |
|
|
CA5034059 rs769745424 |
148 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5034060 rs775237348 |
150 | P>S | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1166807185 CA373246015 |
151 | K>R | No |
ClinGen gnomAD |
|
|
CA5034061 rs762835276 |
155 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs1426141728 CA373246146 |
157 | P>L | No |
ClinGen gnomAD |
|
|
rs763912673 CA5034062 |
158 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1587070912 CA373246186 |
159 | S>R | No |
ClinGen Ensembl |
|
|
rs1382526892 CA373246196 |
160 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA373246190 rs1382526892 |
160 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373246263 rs1475654201 |
163 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1167621130 CA373246284 |
164 | P>S | No |
ClinGen gnomAD |
|
|
rs1324544036 CA373246301 |
165 | A>T | No |
ClinGen gnomAD |
|
|
rs143015286 CA5034088 |
168 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764486701 CA5034089 |
169 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs764486701 CA192629795 |
169 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA192629812 rs112357805 |
171 | K>E | No |
ClinGen Ensembl |
|
|
CA5034090 rs751903139 |
171 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA373246542 rs1390287729 |
171 | K>R | No |
ClinGen TOPMed |
|
|
rs148202700 CA5034091 |
172 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1400236913 CA373246582 |
173 | T>S | No |
ClinGen TOPMed |
|
|
CA5034096 rs779983291 |
176 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5034097 rs749302505 |
177 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558084139 CA5034099 |
178 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5034098 rs768682686 |
178 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA373246750 rs1460365962 |
180 | P>L | No |
ClinGen gnomAD |
|
|
rs747987759 CA5034100 |
180 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587071186 CA373246814 |
183 | P>L | No |
ClinGen Ensembl |
|
|
CA373246891 rs1178602656 |
186 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA373246916 rs1587071203 |
187 | K>R | No |
ClinGen Ensembl |
|
|
CA373247017 rs1215417880 |
191 | Q>H | No |
ClinGen TOPMed |
|
|
rs1255625413 CA373247076 |
193 | N>K | No |
ClinGen gnomAD |
|
|
rs770544613 CA5034104 |
193 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175847164 CA373247111 |
195 | S>C | No |
ClinGen gnomAD |
|
|
CA5034106 rs763505357 |
200 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764611383 CA5034107 |
201 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17852763 CA192629899 |
202 | Y>C | No |
ClinGen Ensembl |
|
|
rs1372787651 CA373247252 |
202 | Y>H | No |
ClinGen gnomAD |
|
|
CA373247285 rs1224097267 |
203 | N>K | No |
ClinGen TOPMed |
|
|
rs1406005009 CA373247328 |
205 | P>S | No |
ClinGen gnomAD |
|
|
rs1406005009 CA373247315 |
205 | P>T | No |
ClinGen gnomAD |
|
|
CA373247357 rs1475100700 |
206 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767714586 CA5034110 |
207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192630637 rs752619800 |
208 | D>G | No |
ClinGen Ensembl |
|
|
rs1184904305 CA373248542 |
208 | D>H | No |
ClinGen gnomAD |
|
|
rs1184904305 CA373248544 COSM1108461 |
208 | D>Y | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769224534 CA5034129 |
209 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767990526 CA5034130 |
209 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034132 rs137937295 |
210 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10576751 RCV000219023 rs876657783 |
216 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5034137 rs752750601 |
216 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201974671 CA5034138 |
220 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1048950991 CA192630768 |
220 | N>S | No |
ClinGen gnomAD |
|
|
rs1048950991 CA373248703 |
220 | N>T | No |
ClinGen gnomAD |
|
|
CA373248724 rs1209080263 |
221 | F>L | No |
ClinGen gnomAD |
|
|
CA373248728 rs1587072015 |
222 | S>P | No |
ClinGen Ensembl |
|
|
CA5034141 rs77338862 |
224 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA373248752 rs888966471 |
224 | T>I | No |
ClinGen TOPMed |
|
|
CA192630817 rs77338862 |
224 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA192630823 rs888966471 |
224 | T>R | No |
ClinGen TOPMed |
|
|
rs377019105 CA5034143 |
225 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192630831 rs769349211 |
226 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373248775 rs1564033537 |
226 | N>S | No |
ClinGen Ensembl |
|
|
CA373248923 rs1337162140 |
229 | E>A | No |
ClinGen gnomAD |
|
|
rs1329140231 CA373248919 |
229 | E>K | No |
ClinGen gnomAD |
|
|
CA5034167 rs577672150 |
231 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577672150 CA5034166 |
231 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771491259 CA5034169 |
233 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5034170 rs777107705 |
234 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5034171 rs201119185 |
236 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373249020 rs201119185 |
236 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436276246 CA373249058 |
238 | L>P | No |
ClinGen gnomAD |
|
|
CA373249053 rs1275461623 |
238 | L>V | No |
ClinGen gnomAD |
|
|
CA192632146 rs904246751 |
239 | E>D | No |
ClinGen TOPMed |
|
|
CA373249064 rs1436874872 |
239 | E>Q | No |
ClinGen TOPMed |
|
|
CA373249133 rs1232028771 |
244 | T>A | No |
ClinGen Ensembl |
|
|
CA5034176 rs556572825 |
250 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1167979080 CA373249244 COSM1108463 |
251 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs927359374 CA192632205 |
252 | T>N | No |
ClinGen gnomAD |
|
|
CA192632210 rs938687532 |
253 | P>A | No |
ClinGen Ensembl |
|
|
CA192632213 rs867966352 |
253 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 253 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976685507 CA192632221 |
254 | V>M | No |
ClinGen TOPMed |
|
|
rs373703151 CA192632225 |
255 | A>P | No |
ClinGen gnomAD |
|
|
CA373249315 rs761802925 |
257 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA192632230 rs1057123340 |
257 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 258 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5034178 rs767337303 |
261 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5034179 rs750194621 |
263 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1030019140 CA373249421 |
266 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1564034204 CA373249458 |
269 | M>T | No |
ClinGen Ensembl |
|
|
rs374387905 CA5034182 |
269 | M>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs754505627 CA5034183 |
270 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1267340723 CA373249492 |
272 | Q>* | No |
ClinGen gnomAD |
|
|
CA373249490 rs1267340723 |
272 | Q>E | No |
ClinGen gnomAD |
|
|
CA5034185 rs747512649 |
272 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034201 rs754629489 |
274 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1162479054 CA373250930 |
281 | Q>E | No |
ClinGen gnomAD |
|
|
rs1367711266 CA373250950 |
282 | A>D | No |
ClinGen gnomAD |
|
|
CA373251057 rs1290572246 |
287 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA373251080 rs1434548322 COSM3848410 |
288 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5034205 rs772094952 CA373251115 |
289 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781766706 CA5034204 |
289 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373251132 rs1587076816 |
290 | V>G | No |
ClinGen Ensembl |
|
|
CA373251181 rs1291629888 |
292 | Q>H | No |
ClinGen TOPMed |
|
|
CA373251176 rs1451845108 |
292 | Q>R | No |
ClinGen TOPMed |
|
|
CA5034207 rs780458190 |
293 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1317913125 CA373251199 |
293 | N>S | No |
ClinGen gnomAD |
|
|
rs749515154 CA5034208 |
294 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768904080 CA5034209 |
298 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA192635084 rs1045988354 |
298 | I>V | No |
ClinGen TOPMed |
|
|
rs1207609318 CA373251349 |
299 | A>S | No |
ClinGen gnomAD |
|
|
CA5034210 rs774389725 |
299 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462236696 CA373251367 |
300 | Q>* | No |
ClinGen gnomAD |
|
|
rs527254975 CA5034229 |
301 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201653559 CA5034230 |
305 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746996706 CA5034233 |
307 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587079811 CA373253127 |
312 | Y>S | No |
ClinGen Ensembl |
|
|
rs1285752841 CA373253132 |
313 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1366103023 CA373253134 |
313 | R>Q | No |
ClinGen gnomAD |
|
|
rs1285752841 CA373253133 |
313 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA373253153 rs1254221839 |
316 | V>M | No |
ClinGen gnomAD |
|
|
rs759377098 CA5034236 |
318 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1191266707 CA373253179 |
320 | L>R | No |
ClinGen gnomAD |
|
|
rs1455960391 CA373253176 |
320 | L>V | No |
ClinGen gnomAD |
|
|
rs775336300 CA5034238 |
321 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764879929 CA5034237 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373253188 rs1248446185 |
322 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373253189 rs1248446185 |
322 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA192641748 rs201547687 |
327 | N>I | No |
ClinGen Ensembl |
|
|
rs982925157 CA192641749 |
330 | A>T | No |
ClinGen TOPMed |
|
|
rs182015909 CA5034242 |
332 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5034243 rs766941804 |
332 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1451350869 CA373253318 |
334 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1305323575 CA373253367 |
336 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs267602217 CA5034246 |
337 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA373253393 rs1289915073 |
338 | L>F | No |
ClinGen gnomAD |
|
|
rs777922183 CA5034248 |
339 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777922183 CA373253421 |
339 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331115811 CA373253616 |
341 | N>I | No |
ClinGen gnomAD |
|
|
rs757413255 CA5034271 |
343 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373253730 rs1247456852 |
344 | Y>* | No |
ClinGen gnomAD |
|
|
CA5034273 rs745862355 |
349 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA5034272 rs781123864 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780094953 CA5034275 |
352 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA373254096 rs1414903945 |
354 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA373254101 rs1414903945 |
354 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA373254142 rs1564037246 |
355 | Y>D | No |
ClinGen Ensembl |
|
|
rs1471785511 CA373256162 |
357 | F>Y | No |
ClinGen gnomAD |
|
|
rs751871090 CA5034291 |
358 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs751871090 CA5034290 |
358 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs144622109 CA5034292 |
360 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373256246 rs1265872038 |
361 | S>G | No |
ClinGen TOPMed |
|
|
CA373256281 rs1470058689 |
363 | G>A | No |
ClinGen gnomAD |
|
|
CA373256276 rs1274183697 |
363 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376343338 CA5034295 |
364 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5034299 rs747883349 |
369 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs201677978 CA5034300 |
370 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201677978 CA373256394 |
370 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373256399 rs905627146 |
371 | K>E | No |
ClinGen TOPMed |
|
|
CA192645884 rs905627146 |
371 | K>Q | No |
ClinGen TOPMed |
|
|
CA373256402 rs1463286766 |
371 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 373 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 374 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867904816 CA192645888 |
376 | P>S | No |
ClinGen Ensembl |
|
|
CA373256456 rs1415978896 |
377 | E>K | No |
ClinGen TOPMed |
|
|
CA5034301 rs772880156 |
378 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373256489 rs1482279511 |
379 | M>T | No |
ClinGen gnomAD |
|
|
CA373256483 rs1276963650 |
379 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1204878337 CA373256501 |
380 | F>L | No |
ClinGen gnomAD |
|
|
rs141690214 CA373256563 |
382 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453811601 CA373256547 |
382 | S>R | No |
ClinGen gnomAD |
|
|
CA373256575 rs1375457493 |
383 | N>H | No |
ClinGen gnomAD |
|
|
CA5034304 rs376830478 |
383 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5034306 rs201157845 |
385 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373256648 rs565923150 |
386 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192645984 rs923582318 |
387 | M>R | No |
ClinGen Ensembl |
|
|
CA373256695 rs1391419057 |
388 | C>R | No |
ClinGen gnomAD |
|
|
rs753894107 CA5034313 |
390 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192646013 rs956285132 |
391 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 392 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419781462 CA373256868 |
394 | D>G | No |
ClinGen gnomAD |
|
|
rs372958889 CA373256850 |
394 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372958889 CA5034316 |
394 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1292921051 CA373256883 |
395 | H>Y | No |
ClinGen gnomAD |
|
|
rs1324726689 CA373256961 |
398 | L>V | No |
ClinGen TOPMed |
|
|
CA373256972 rs150261456 |
399 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5034318 rs777301816 |
401 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034320 rs138954776 |
402 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5034321 rs776084634 |
403 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373257076 rs1564039508 |
405 | D>H | No |
ClinGen Ensembl |
|
|
CA192646113 rs998187708 |
406 | G>D | No |
ClinGen TOPMed |
|
|
rs769177784 CA5034323 |
406 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373257135 rs1167531775 |
407 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs145913498 CA5034324 |
409 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762091795 CA5034325 COSM1701059 |
409 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1435976145 CA373257187 |
410 | I>V | No |
ClinGen gnomAD |
|
|
CA5034326 rs369993660 |
412 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373257266 rs1363336764 |
412 | N>K | No |
ClinGen gnomAD |
|
|
rs1434686391 CA373257272 |
413 | L>F | No |
ClinGen gnomAD |
|
|
rs1434686391 CA373257269 |
413 | L>I | No |
ClinGen gnomAD |
|
|
CA373257295 rs1360208525 |
414 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773366087 CA5034327 |
415 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 416 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373257372 rs1587085073 |
417 | H>P | No |
ClinGen Ensembl |
|
|
CA5034329 rs766607013 |
418 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034330 rs753993302 |
419 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5034333 rs765089135 |
423 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA373257585 rs1185121764 |
425 | S>L | No |
ClinGen gnomAD |
|
|
CA373257588 rs1367866725 |
426 | A>T | No |
ClinGen gnomAD |
|
|
CA5034335 rs752620955 |
429 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA373257674 rs752620955 |
429 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5034338 rs746700701 |
430 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5034340 rs756877115 |
431 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373257760 rs745418090 |
433 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA373257781 rs1394704421 |
435 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1351448161 CA373257823 |
436 | W>* | No |
ClinGen gnomAD |
|
|
rs1313397239 CA373259871 |
438 | V>I | No |
ClinGen gnomAD |
|
|
rs939569468 CA192649927 |
440 | W>* | No |
ClinGen Ensembl |
|
|
CA5034359 rs757009899 |
440 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1483262225 CA373259941 |
441 | Q>H | No |
ClinGen gnomAD |
|
|
rs1207020845 CA373259994 |
444 | D>G | No |
ClinGen gnomAD |
|
|
rs1156288049 CA373260016 |
445 | M>I | No |
ClinGen TOPMed |
|
|
CA373260011 rs1249592312 |
445 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199627038 CA192649933 |
447 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373260105 rs1480251079 |
449 | L>F | No |
ClinGen gnomAD |
|
|
CA373260115 rs1587089669 |
449 | L>R | No |
ClinGen Ensembl |
|
|
rs1200718522 CA373260150 |
451 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 452 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759609265 | 452 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570528970 CA5034363 |
453 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
| TCGA novel | 455 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373260293 rs113249236 |
457 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373260297 rs1237015232 |
458 | G>S | No |
ClinGen TOPMed |
|
|
CA5034367 rs778384188 |
459 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5034368 rs575409331 |
462 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1204164 CA5034370 rs777050459 |
466 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1587089957 CA373260877 |
471 | V>G | No |
ClinGen Ensembl |
|
|
CA5034401 rs766058211 |
473 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5034403 rs754572364 |
475 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764834552 CA5034404 |
476 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA373261108 rs1587089986 |
480 | V>G | No |
ClinGen Ensembl |
|
|
rs1412316100 CA373261163 |
482 | G>V | No |
ClinGen gnomAD |
|
|
CA373261190 rs1461407696 |
483 | S>R | No |
ClinGen gnomAD |
|
|
CA373261195 rs1160494478 |
484 | T>A | No |
ClinGen gnomAD |
|
|
CA373261207 rs1388750752 |
484 | T>I | No |
ClinGen gnomAD |
|
|
rs1316582448 CA373261246 |
486 | E>D | No |
ClinGen TOPMed |
|
|
CA373261225 rs1344228301 |
486 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1379557992 CA373261284 |
488 | P>L | No |
ClinGen gnomAD |
|
|
rs377174043 CA5034408 |
490 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373261336 rs377174043 |
490 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373261394 rs1399156490 |
493 | L>V | No |
ClinGen TOPMed |
|
|
CA5034411 rs768795225 |
494 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5034410 rs145995730 |
494 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17856865 CA192650227 |
495 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs17856865 CA192650221 |
495 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748133557 CA5034413 COSM1108472 |
496 | V>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs748133557 CA373261462 |
496 | V>E | No |
ClinGen ExAC TOPMed |
|
|
rs376252276 CA373261565 |
497 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376252276 CA192650684 |
497 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373261600 rs1392871860 |
500 | T>I | No |
ClinGen gnomAD |
|
|
rs770799893 CA5034434 |
507 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA373261695 rs1564042325 |
507 | E>D | No |
ClinGen Ensembl |
|
|
CA5034435 rs776264346 |
508 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs370155789 CA192650728 |
509 | D>G | No |
ClinGen gnomAD |
|
|
rs769598912 CA5034437 |
509 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA373261738 rs775213140 CA192650737 |
511 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034439 rs775213140 |
511 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373261783 rs1277245703 |
514 | V>G | No |
ClinGen gnomAD |
|
|
rs923392788 CA192650758 |
514 | V>M | No |
ClinGen Ensembl |
|
|
CA5034443 rs766816816 |
520 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA192650810 rs568312736 |
521 | I>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5034470 rs372818966 |
525 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293144844 CA373263025 |
527 | S>P | No |
ClinGen gnomAD |
|
|
CA5034472 rs751618128 |
528 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA5034474 rs781285289 |
529 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757292715 CA5034473 |
529 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5034475 rs377217567 |
531 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5034477 rs779968040 |
534 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs904725096 CA192651560 |
535 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5034478 rs76334696 |
535 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199502666 CA5034480 |
537 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368248592 CA5034481 |
538 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5034484 rs775854024 |
541 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1413318185 CA373263338 |
541 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA192651600 rs571238105 |
543 | V>A | No |
ClinGen Ensembl |
|
|
rs763333062 CA5034485 |
544 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1314566572 CA373263438 |
546 | V>A | No |
ClinGen gnomAD |
|
|
rs1013728699 CA192651607 |
546 | V>M | No |
ClinGen gnomAD |
|
| rs748929117 | 547 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024654594 CA192651619 |
548 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1256150940 CA373263491 |
549 | N>D | No |
ClinGen gnomAD |
|
|
CA373263549 rs1294734737 |
551 | Y>* | No |
ClinGen TOPMed |
|
|
rs757337068 CA5034489 |
552 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA373263593 rs1483323548 |
553 | T>I | No |
ClinGen gnomAD |
|
|
CA5034491 rs750428263 |
555 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780095083 CA5034493 |
558 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1433306789 CA373263734 |
560 | S>I | No |
ClinGen gnomAD |
|
|
CA373263762 rs1371519471 |
562 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754737698 CA5034495 |
563 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA373263846 rs1390304975 |
565 | V>G | No |
ClinGen gnomAD |
|
|
rs771520962 CA5034498 |
566 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1231856646 CA373263895 |
568 | W>* | No |
ClinGen gnomAD |
|
|
rs1279381164 CA373263899 |
569 | D>H | No |
ClinGen gnomAD |
|
|
rs1392149086 CA373263930 |
570 | H>N | No |
ClinGen TOPMed |
|
|
CA5034502 rs775904925 |
573 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA192651799 rs921726236 |
575 | P>L | No |
ClinGen gnomAD |
|
|
rs773502146 CA5034526 |
576 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 580 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766555784 CA5034528 |
582 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs765035797 CA5034531 |
585 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 586 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752567789 CA5034532 |
586 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 586 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448928707 CA373264402 |
587 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA373264386 rs1269067872 |
587 | D>Y | No |
ClinGen gnomAD |
|
|
CA373264439 rs1213861903 |
589 | A>T | No |
ClinGen gnomAD |
|
|
rs913261118 CA192651861 |
592 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 595 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764403433 CA192651867 |
596 | T>A | No |
ClinGen Ensembl |
|
|
CA373264619 rs1473967248 |
597 | V>E | No |
ClinGen gnomAD |
|
|
CA5034540 COSM1108473 rs145483542 |
599 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5034541 rs748529005 |
600 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA373264694 rs1344388355 |
601 | V>A | No |
ClinGen gnomAD |
|
|
rs1448470352 CA373264751 |
604 | D>Y | No |
ClinGen gnomAD |
|
|
CA5034542 rs145255472 |
605 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373266140 rs1206500478 |
607 | A>V | No |
ClinGen gnomAD |
|
|
CA5034562 rs778259447 |
608 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148762102 CA373266149 |
608 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231996646 CA373266204 |
609 | I>M | No |
ClinGen gnomAD |
|
|
rs727502978 CA192653536 |
609 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373266382 rs1195061821 |
615 | N>S | No |
ClinGen gnomAD |
|
|
rs572999533 CA5034564 |
618 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544838887 CA5034566 |
622 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544838887 CA373266539 |
622 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373266560 rs1564044348 |
624 | P>A | No |
ClinGen Ensembl |
|
|
CA5034567 rs142404489 |
624 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5034571 rs774157246 |
627 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA373266639 rs1467567533 |
630 | N>D | No |
ClinGen TOPMed |
|
|
rs1229575340 CA373266663 |
631 | R>S | No |
ClinGen gnomAD |
|
|
CA373266686 rs1327893131 |
633 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5034575 rs373062538 |
635 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5034576 rs765804042 |
636 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034577 rs753298537 |
636 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA373266746 rs201773877 |
638 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373266757 rs1263667390 |
639 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5034580 rs747382351 |
641 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781530640 CA5034582 |
642 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5034583 rs772069538 |
643 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5034585 rs780083408 |
644 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373266821 rs1227310699 |
644 | I>T | No |
ClinGen TOPMed |
|
|
CA373266815 rs780083408 |
644 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393988058 CA373266836 |
645 | I>M | No |
ClinGen gnomAD |
|
|
CA5034586 rs771072582 |
645 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1463071173 CA373266828 |
645 | I>V | No |
ClinGen gnomAD |
|
|
CA373266838 rs1383170893 |
646 | V>L | No |
ClinGen gnomAD |
|
|
CA373266869 rs1191814578 |
648 | D>G | No |
ClinGen gnomAD |
|
|
CA373266861 rs1325002464 |
648 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1108476 rs774210705 CA5034587 |
650 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA373266896 rs1398691706 |
651 | G>R | No |
ClinGen TOPMed |
|
|
CA5034589 rs771751882 |
652 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA192653703 rs961247679 |
655 | S>G | No |
ClinGen Ensembl |
|
|
CA5034592 rs760215703 |
657 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1263598657 CA373266991 |
658 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA373266994 rs1475765956 |
658 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1475765956 CA373266996 |
658 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA192653723 rs113237623 |
660 | P>H | No |
ClinGen Ensembl |
|
|
CA373267028 rs1192461590 |
661 | N>S | No |
ClinGen gnomAD |
|
|
COSM1108477 rs150107677 CA192653727 |
663 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA373267070 rs1380959008 |
664 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA373268220 rs1587096978 |
668 | E>G | No |
ClinGen Ensembl |
|
|
CA373268397 rs1239680276 |
673 | E>K | No |
ClinGen gnomAD |
|
|
CA373268500 rs1587097011 |
674 | V>G | No |
ClinGen Ensembl |
|
|
CA373268507 rs1262375059 |
675 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA192655509 rs891950721 |
677 | G>A | No |
ClinGen Ensembl |
|
|
CA5034614 rs759171136 |
678 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111887810 CA373268594 |
679 | A>T | No |
ClinGen TOPMed |
|
|
CA373268661 rs1333588246 |
680 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 681 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758956642 CA192655539 |
681 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs535760702 CA192655546 |
683 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5034618 rs768017295 |
688 | L>V | No |
ClinGen ExAC |
|
|
CA373268958 rs1248734521 |
690 | N>K | No |
ClinGen gnomAD |
|
|
rs1418743454 CA373268965 |
691 | L>M | No |
ClinGen gnomAD |
|
|
CA373268973 rs1194440189 |
691 | L>Q | No |
ClinGen gnomAD |
|
|
CA373269010 rs1433242022 |
692 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1433242022 CA373269004 |
692 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA373269016 rs1173621403 |
693 | R>K | No |
ClinGen gnomAD |
|
|
rs1173621403 CA373269019 |
693 | R>M | No |
ClinGen gnomAD |
|
|
CA373269021 rs1355601643 |
693 | R>S | No |
ClinGen gnomAD |
|
|
CA192655617 rs959563471 |
694 | E>Q | No |
ClinGen Ensembl |
|
|
rs1285302972 CA373269074 |
696 | K>T | No |
ClinGen Ensembl |
|
|
CA373269110 rs1393638142 |
698 | K>E | No |
ClinGen gnomAD |
|
|
CA373269109 rs1393638142 |
698 | K>Q | No |
ClinGen gnomAD |
|
|
CA373269155 rs1445603750 |
699 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with Q9UI46
[MIM: 244400]: Ciliary dyskinesia, primary, 1 (CILD1)
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:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 244400]: Kartagener syndrome (KTGS)
An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). {ECO:0000269|PubMed:11231901}. 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:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). {ECO:0000269|PubMed:11231901}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9UI46
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 373 - 412 | IPR001680-1 |
| repeat | WD40 repeat | 421 - 464 | IPR001680-2 |
| repeat | WD40 repeat | 529 - 569 | IPR001680-3 |
| repeat | WD40 repeat | 574 - 611 | IPR001680-4 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| 9+2 motile cilium | A motile cilium where the axoneme has a ring of nine outer microtubule doublets plus two central microtubules (and is therefore called a 9+2 axoneme). |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| 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. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| 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. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| outer dynein arm | Outer arm structure present on the outer doublet microtubules of ciliary and flagellar axonemes. Outer dynein arms contain 2-3 heavy chains, two or more intermediate chains and a cluster of 4-8 light chains. Inner and outer dynein arms have different functions in the generation of microtubule-based motility. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeletal motor activity | Generation of force resulting in movement, for example along a microfilament or microtubule, or in torque resulting in membrane scission or rotation of a flagellum. The energy required is obtained either from the hydrolysis of a nucleoside triphosphate or by an electrochemical proton gradient (proton-motive force). |
| dynein heavy chain binding | Binding to a heavy chain of the dynein complex. |
| dynein light chain binding | Binding to a light chain of the dynein complex. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium movement | The directed, self-propelled movement of a cilium. |
| determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
| 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. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| insulin receptor signaling pathway | The series of molecular signals generated as a consequence of the insulin receptor binding to insulin. |
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
| 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. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O14576 | DYNC1I1 | Cytoplasmic dynein 1 intermediate chain 1 | Homo sapiens (Human) | PR |
| O88485 | Dync1i1 | Cytoplasmic dynein 1 intermediate chain 1 | Mus musculus (Mouse) | PR |
| Q8C0M8 | Dnai1 | Dynein axonemal intermediate chain 1 | Mus musculus (Mouse) | PR |
| Q63100 | Dync1i1 | Cytoplasmic dynein 1 intermediate chain 1 | Rattus norvegicus (Rat) | PR |
| Q5XIL8 | Dnai1 | Dynein axonemal intermediate chain 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIPASAKAPH | KQPHKQSISI | GRGTRKRDED | SGTEVGEGTD | EWAQSKATVR | PPDQLELTDA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELKEEFTRIL | TANNPHAPQN | IVRYSFKEGT | YKPIGFVNQL | AVHYTQVGNL | IPKDSDEGRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QHYRDELVAG | SQESVKVISE | TGNLEEDEEP | KELETEPGSQ | TDVPAAGAAE | KVTEEELMTP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KQPKERKLTN | QFNFSERASQ | TYNNPVRDRE | CQTEPPPRTN | FSATANQWEI | YDAYVEELEK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QEKTKEKEKA | KTPVAKKSGK | MAMRKLTSME | SQTDDLIKLS | QAAKIMERMV | NQNTYDDIAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DFKYYDDAAD | EYRDQVGTLL | PLWKFQNDKA | KRLSVTALCW | NPKYRDLFAV | GYGSYDFMKQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRGMLLLYSL | KNPSFPEYMF | SSNSGVMCLD | IHVDHPYLVA | VGHYDGNVAI | YNLKKPHSQP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SFCSSAKSGK | HSDPVWQVKW | QKDDMDQNLN | FFSVSSDGRI | VSWTLVKRKL | VHIDVIKLKV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EGSTTEVPEG | LQLHPVGCGT | AFDFHKEIDY | MFLVGTEEGK | IYKCSKSYSS | QFLDTYDAHN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MSVDTVSWNP | YHTKVFMSCS | SDWTVKIWDH | TIKTPMFIYD | LNSAVGDVAW | APYSSTVFAA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VTTDGKAHIF | DLAINKYEAI | CNQPVAAKKN | RLTHVQFNLI | HPIIIVGDDR | GHIISLKLSP |
| 670 | 680 | 690 | |||
| NLRKMPKEKK | GQEVQKGPAV | EIAKLDKLLN | LVREVKIKT |