Q5TD94
PR
Gene name |
RSPH4A (RSHL3) |
Protein name |
Radial spoke head protein 4 homolog A |
Names |
Radial spoke head-like protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:345895 |
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 Q5TD94
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | G/H/I/J/g/h/i/j | 1-716 | PDB |
| AF-Q5TD94-F1 | Predicted | AlphaFoldDB |
616 variants for Q5TD94
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA365388071 rs1554247978 RCV000629364 |
4 | S>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196790 CA336721 rs863224690 |
31 | S>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000307728 RCV000695587 rs776700072 |
38 | E>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3970702 RCV000825543 rs368110732 RCV002282387 |
39 | S>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3970707 rs372113802 RCV001230077 |
45 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA145923709 RCV000801527 rs983632022 |
49 | P>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs797045147 RCV000190912 |
56 | R>missing | Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748597085 RCV000629503 CA3970720 |
68 | K>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1398453218 RCV001297704 CA365390688 |
69 | T>M | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1775512553 RCV001255282 |
79 | T>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371869815 RCV000557451 CA3970726 |
81 | S>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs767490154 CA3970729 RCV000232498 VAR_055235 |
87 | P>S | Primary ciliary dyskinesia CILD11 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001201881 rs1397332406 CA365391361 |
94 | P>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201187909 RCV002559508 RCV001156994 CA3970739 |
96 | P>L | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001058610 rs1775514576 |
99 | P>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3970741 rs139745647 RCV001731957 RCV000866349 |
103 | D>Y | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473371 rs118204042 CA339819 RCV000000533 |
109 | Q>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs562856574 RCV000861142 CA3970744 |
114 | T>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs976414886 RCV001051075 CA145923816 |
133 | D>N | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3970763 RCV000629320 RCV000778772 rs756868889 |
144 | Q>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_037715 RCV000293332 rs13213314 CA183058 RCV001095097 RCV001706054 RCV000155567 |
149 | T>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000226196 rs118204041 CA339817 RCV000000532 |
154 | Q>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1775520006 RCV001214450 |
154 | Q>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365393776 RCV001204444 rs1215954352 |
163 | R>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000703926 rs1444391928 |
175 | E>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758078631 RCV001041331 CA3970785 |
187 | N>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000702326 rs376372993 CA3970786 |
188 | S>N | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000151744 CA177722 rs141226759 RCV002272141 RCV000327302 RCV001095098 |
195 | P>R | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001156995 CA365394896 rs1436446801 RCV001882495 |
196 | A>T | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3970792 RCV000691057 rs143264253 |
199 | G>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000384668 rs762313827 CA238636 RCV000173174 RCV002516578 |
217 | Y>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397518455 RCV000057514 |
223 | S>missing | Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365397323 rs1554248617 RCV000629302 |
230 | Y>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475229 RCV000190913 RCV000074451 RCV000724984 rs869320683 |
230 | Y>Q | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 Kartagener syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778774449 RCV001216655 CA3970830 |
244 | R>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000205854 rs41289942 RCV001094960 RCV000151745 CA177724 RCV001706004 |
244 | R>H | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1406041200 RCV000545966 CA365399853 |
278 | L>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1775634033 RCV001255267 |
281 | Y>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3970849 rs755128358 RCV002484203 RCV001221307 |
301 | Q>P | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1330301417 CA365402938 RCV001206526 |
311 | A>T | Primary ciliary dyskinesia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA365403104 RCV001056181 rs1428425636 |
322 | F>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002274143 RCV001204791 rs1775719317 |
338 | F>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612098 rs371374918 RCV000473134 |
356 | W>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs111375012 CA3970892 RCV000862221 |
360 | L>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757303224 CA3970894 RCV001040129 |
361 | G>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747419302 CA3970899 RCV001809821 RCV000805555 |
368 | V>G | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA365403862 rs1379993014 RCV001151579 RCV000806729 |
371 | V>M | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001300233 rs141217974 CA3970901 RCV000222197 |
374 | R>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA145927153 rs945197853 RCV000692921 |
402 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA365404986 RCV001242359 rs1394282681 |
414 | P>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000286577 CA3970912 rs61738662 RCV001094962 |
416 | A>V | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000057515 rs397518456 |
424 | T>missing | Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003132172 rs371882096 CA3970919 RCV001048146 |
425 | G>D | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs140079844 RCV000525283 RCV001151580 CA3970920 |
429 | Y>C | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3970928 RCV002032397 RCV001151581 rs139677155 |
445 | P>L | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001046082 rs146636625 CA3970927 |
445 | P>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000539991 CA3970931 RCV002497041 rs750528020 |
451 | Q>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3970934 RCV001344978 rs752047678 |
454 | I>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA365406027 RCV000690238 rs1436491672 |
460 | K>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs753041231 RCV000793143 VAR_070565 CA3970937 |
464 | G>E | Primary ciliary dyskinesia CILD11; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs755782051 RCV000699729 RCV001357232 CA3970938 |
465 | R>* | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001319713 CA3970940 rs777456038 |
465 | R>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000554729 CA145927295 COSM1072432 rs1034327724 RCV002470901 |
485 | R>* | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. Primary ciliary dyskinesia 11 endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM216730 RCV000000534 rs118204043 RCV000525090 CA339821 |
490 | R>* | Primary ciliary dyskinesia pancreas Primary ciliary dyskinesia 11 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753449428 RCV001154591 RCV001772348 CA3970956 RCV001859011 |
493 | A>E | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA183062 RCV000155569 RCV000204311 rs117169123 RCV001706055 RCV001095039 |
497 | V>I | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
rs762267064 RCV001040130 |
498 | S>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3970965 RCV000399601 RCV001095040 rs565491418 |
505 | F>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1221446542 CA365406700 RCV001219581 |
511 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3970972 rs148954304 COSM141178 RCV000299623 |
520 | R>Q | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. Primary ciliary dyskinesia 11 large_intestine [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001095041 rs6927567 RCV001709502 RCV000392890 VAR_037716 CA177726 RCV000151746 |
556 | R>H | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1775758975 RCV001255243 |
564 | Q>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365408677 RCV000629375 rs1554249521 |
564 | Q>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000554545 rs902750903 |
570 | E>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001155427 CA245163 rs147003118 RCV000242421 RCV002516767 RCV000724046 RCV000543028 |
570 | E>Q | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs757198203 RCV001043110 |
573 | E>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3971022 rs141807210 RCV001155428 RCV001322917 RCV002557328 |
583 | I>T | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000151747 RCV001095062 RCV001706005 RCV000369719 CA177728 rs784133 VAR_037717 |
589 | L>P | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780292620 RCV001230519 |
592 | L>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228862 rs1775775547 |
602 | Q>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468406 CA3971049 rs775186734 |
605 | P>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138413282 CA3971052 RCV001255254 |
606 | P>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs748664881 RCV000824452 |
607 | W>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1775776645 RCV001255268 |
613 | S>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000277652 rs886060994 CA10625750 |
615 | L>V | Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692148 CA3971063 rs370338820 |
638 | G>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779796065 CA3971090 RCV000553211 |
643 | N>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686062 CA3971091 rs746646378 RCV003163104 |
645 | Y>C | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1230428971 CA365412761 RCV001202861 |
657 | Y>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1224338 CA3971095 rs769766758 RCV002557339 RCV001157111 |
657 | Y>H | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs372634959 RCV000629285 CA3971097 |
659 | P>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs146142715 CA3971101 RCV000598056 RCV001095101 RCV000271851 |
664 | P>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000795890 rs1400425886 |
671 | S>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs920942886 RCV001218610 CA145928867 |
673 | P>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3971104 rs368369580 RCV000228511 |
674 | E>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1483719333 RCV001157113 |
694 | E>G | Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3941475 CA3971112 RCV002466611 RCV001039909 rs372304999 |
699 | A>T | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. oesophagus Primary ciliary dyskinesia 11 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs9488992 CA3971113 VAR_037719 RCV000214561 RCV000329299 RCV001706235 RCV001094969 |
700 | A>V | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000593752 CA3971115 rs140660854 RCV002058555 RCV000381582 |
701 | E>Q | Primary ciliary dyskinesia Primary ciliary dyskinesia 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA365413613 RCV000703556 rs1215996303 |
709 | E>D | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3970684 rs761571008 |
3 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764586149 CA3970685 |
4 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139499008 CA3970686 |
9 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762751568 CA3970687 |
11 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 11 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377656819 CA3970689 |
12 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365389386 rs1562387540 |
13 | N>K | No |
ClinGen Ensembl |
|
|
rs754824302 CA3970691 |
14 | Q>L | No |
ClinGen ExAC gnomAD |
|
| rs771322050 | 16 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970692 rs780975506 |
16 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753990130 CA3970693 |
20 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA365389528 rs1356447938 |
21 | R>T | No |
ClinGen TOPMed |
|
|
CA3970694 rs757528263 |
22 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs762438592 CA365389539 |
22 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762438592 RCV001195398 CA365389535 |
22 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA145923666 rs757528263 |
22 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA145923671 rs778806691 |
23 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970695 rs778806691 |
23 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365389593 rs1435825996 |
26 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA365389608 rs1362106526 |
26 | G>V | No |
ClinGen gnomAD |
|
|
rs1425093619 CA365389680 |
30 | A>P | No |
ClinGen TOPMed |
|
|
rs150537417 CA3970698 |
31 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142543424 CA3970697 |
31 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365389714 rs1218536665 |
32 | P>S | No |
ClinGen gnomAD |
|
|
CA365389729 rs1282740503 |
33 | Q>* | No |
ClinGen gnomAD |
|
|
CA145923679 rs989828629 |
33 | Q>P | No |
ClinGen Ensembl |
|
|
rs1583345695 CA365389787 |
34 | Y>* | No |
ClinGen Ensembl |
|
|
CA3970700 rs769085001 |
34 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA365389944 rs368110732 |
39 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365390003 rs1162657034 |
40 | S>F | No |
ClinGen gnomAD |
|
|
CA365389964 rs1210983522 |
40 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 40 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970704 rs769511308 |
42 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772564504 CA3970705 |
43 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970706 rs762589461 |
44 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs372113802 CA145923702 |
45 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774216583 CA3970708 |
47 | Q>K | No |
ClinGen ExAC |
|
|
rs1225443340 CA365390200 |
48 | G>R | No |
ClinGen TOPMed |
|
|
CA365390234 rs1304236622 |
49 | P>L | No |
ClinGen gnomAD |
|
|
rs983632022 CA365390225 |
49 | P>S | No |
ClinGen TOPMed |
|
|
rs373900879 CA3970709 |
51 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752508743 CA3970710 |
53 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752508743 CA365390320 |
53 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365390332 rs1415514739 |
53 | R>L | No |
ClinGen TOPMed |
|
|
rs757396525 CA3970711 |
54 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs757396525 CA365390340 |
54 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3970712 rs765539125 |
55 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3970713 rs750467499 |
58 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs908062409 CA145923720 |
59 | R>C | No |
ClinGen TOPMed |
|
|
rs908062409 CA365390467 |
59 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 59 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970714 rs758567137 |
62 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs780299380 CA3970715 |
64 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780299380 CA365390584 |
64 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970717 rs755573549 |
66 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3970718 rs200149193 |
67 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471373083 CA365390643 |
68 | K>E | No |
ClinGen TOPMed |
|
|
rs769799020 CA3970721 |
69 | T>M | No |
ClinGen ExAC |
|
|
rs1398453218 CA365390687 |
69 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365390753 rs1406386112 |
73 | G>S | No |
ClinGen gnomAD |
|
|
CA365390779 rs1334282819 |
74 | P>L | No |
ClinGen gnomAD |
|
|
rs769325632 CA3970722 |
74 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3970723 rs553472573 |
75 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1235292068 CA365390903 |
80 | S>T | No |
ClinGen TOPMed |
|
|
rs895120131 CA145923747 |
82 | P>S | No |
ClinGen Ensembl |
|
|
COSM593838 rs773878067 CA3970727 |
83 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1008393343 CA145923755 |
85 | V>F | No |
ClinGen TOPMed |
|
|
CA3970730 rs202006186 |
87 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3970731 rs760588703 |
88 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3970733 rs750605299 |
89 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555565982 CA3970732 |
89 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365391160 rs1468824108 |
90 | P>H | No |
ClinGen gnomAD |
|
|
rs530756069 CA3970734 |
90 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530756069 CA145923769 |
90 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970736 rs751712749 |
91 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 91 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397332406 CA365391344 |
94 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA365391405 rs781780861 |
96 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970738 rs781780861 |
96 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365391447 rs1346293347 |
97 | L>P | No |
ClinGen gnomAD |
|
|
rs1222919997 CA365391467 |
98 | A>T | No |
ClinGen gnomAD |
|
|
CA365391483 rs1334975476 |
98 | A>V | No |
ClinGen gnomAD |
|
|
CA365391528 rs1261497097 |
99 | P>A | No |
ClinGen gnomAD |
|
|
CA3970740 rs756442852 |
101 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365391618 rs1433422951 |
102 | Q>H | No |
ClinGen TOPMed |
|
|
CA365391659 rs1435864406 |
103 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1201583704 CA365391747 |
105 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA145923784 rs1030816346 |
105 | A>T | No |
ClinGen Ensembl |
|
|
CA3970742 rs748926290 |
106 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365391806 rs1583345921 |
107 | P>S | No |
ClinGen Ensembl |
|
|
CA365391875 rs1165167629 |
108 | P>H | No |
ClinGen TOPMed |
|
|
CA365391942 rs1374459271 |
111 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778370377 CA3970743 |
114 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA365392197 rs1305501960 |
119 | E>G | No |
ClinGen gnomAD |
|
|
rs775559853 CA3970747 |
120 | A>V | No |
ClinGen ExAC |
|
|
CA365392254 rs1206794307 |
121 | G>R | No |
ClinGen TOPMed |
|
|
CA145923799 rs1018616962 |
124 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365392520 rs1469635606 |
127 | P>L | No |
ClinGen TOPMed |
|
|
rs1366661109 CA365392516 |
127 | P>S | No |
ClinGen gnomAD |
|
|
CA3970749 rs369824862 |
129 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374708076 CA145923809 |
132 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3970751 rs374708076 |
132 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763188022 CA3970752 |
132 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1337222964 CA365392764 |
133 | D>V | No |
ClinGen gnomAD |
|
|
CA365392795 rs1224359665 |
134 | K>E | No |
ClinGen gnomAD |
|
|
rs1292455050 CA365392834 |
135 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs545486771 CA3970755 |
138 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751661438 CA365392942 |
138 | T>P | No |
ClinGen ExAC |
|
|
rs751661438 CA3970754 |
138 | T>S | No |
ClinGen ExAC |
|
|
CA3970757 rs753180816 |
140 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970759 rs756610987 |
142 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA3970761 rs778146751 |
143 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3970760 rs762142077 |
143 | S>Q | No |
ClinGen ExAC |
|
|
CA3970762 rs368842442 |
143 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778605738 CA3970764 |
146 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145923838 rs959870218 |
146 | E>K | No |
ClinGen TOPMed |
|
|
CA3970766 rs372902497 |
148 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 148 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365393325 rs1269017511 |
148 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs13213314 CA3970767 |
149 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs992709696 CA145923844 |
149 | T>P | No |
ClinGen TOPMed |
|
|
CA365393411 rs1382794453 |
151 | Q>R | No |
ClinGen gnomAD |
|
|
CA365393526 rs1389071990 |
155 | Q>K | No |
ClinGen TOPMed |
|
|
CA365393570 rs1363246253 |
156 | P>H | No |
ClinGen gnomAD |
|
|
CA3970769 rs776466480 |
157 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA365393612 rs1186584074 |
158 | P>S | No |
ClinGen TOPMed |
|
|
CA365393705 rs1243776252 |
160 | L>Q | No |
ClinGen gnomAD |
|
|
rs1373133363 CA365393769 |
163 | R>* | No |
ClinGen TOPMed |
|
|
CA365393755 rs1373133363 |
163 | R>G | No |
ClinGen TOPMed |
|
|
rs532331878 CA365393812 |
164 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767593671 CA365393833 |
165 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970772 rs774655338 |
165 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970773 rs774655338 |
165 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145923873 rs77016758 CA145923876 |
166 | V>L | No |
ClinGen Ensembl |
|
|
CA365393949 rs1460690030 |
168 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1583346110 CA365393938 |
168 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 171 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970778 rs761222226 |
171 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761222226 CA145923881 |
171 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963891526 CA145923886 |
172 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1244173581 CA365394109 |
173 | Q>* | No |
ClinGen gnomAD |
|
|
rs1297034451 CA365394143 |
174 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 179 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1072426 CA3970782 rs757678261 |
182 | Q>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3970784 rs750012036 |
184 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365394468 rs1386583001 |
185 | D>G | No |
ClinGen TOPMed |
|
|
rs758078631 CA365394535 |
187 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365394561 rs376372993 |
188 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549196993 CA3970787 |
189 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754915761 CA3970788 |
192 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141226759 CA3970789 |
195 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769643510 CA3970790 |
196 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970791 rs773168644 |
198 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA365394970 rs1197852948 |
199 | G>C | No |
ClinGen TOPMed |
|
|
rs775607244 CA3970794 |
204 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1583346221 CA365395162 |
205 | S>R | No |
ClinGen Ensembl |
|
|
CA365395210 rs1179155045 |
206 | M>V | No |
ClinGen TOPMed |
|
|
rs531594790 CA3970795 |
207 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3970796 rs764651259 |
209 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 212 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970797 rs777066141 |
212 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs372083168 CA145923918 |
213 | N>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 214 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365395559 rs1390787423 |
216 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365395594 rs140811116 |
217 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750812905 CA3970799 |
219 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765991456 CA3970801 |
222 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA3970802 rs751079444 |
222 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206156100 CA365395744 |
223 | S>R | No |
ClinGen gnomAD |
|
|
rs754385442 CA3970803 |
225 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 226 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365395822 rs1195790119 |
226 | G>V | No |
ClinGen gnomAD |
|
|
rs1250177516 CA365395841 |
227 | F>L | No |
ClinGen gnomAD |
|
|
rs373136924 CA145925448 |
232 | H>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs199897154 CA145925451 |
233 | L>F | No |
ClinGen Ensembl |
|
|
CA3970824 rs767083925 |
236 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970826 rs377544162 |
238 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA145925459 rs902973901 |
239 | K>N | No |
ClinGen TOPMed |
|
|
CA3970827 rs371216757 |
240 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA145925466 rs957808809 |
240 | I>M | No |
ClinGen Ensembl |
|
|
CA3970828 rs371216757 |
240 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1231432951 CA365398055 |
241 | L>S | No |
ClinGen TOPMed |
|
|
CA145925469 rs1000086257 |
242 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs990305442 CA145925472 |
242 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA365398097 rs990305442 |
242 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365398092 rs990305442 |
242 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756946037 CA3970829 |
243 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322356190 CA365398145 |
243 | E>V | No |
ClinGen gnomAD |
|
|
rs1434851238 CA365398235 |
245 | P>L | No |
ClinGen gnomAD |
|
|
rs1348281806 CA365398344 |
248 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3970831 rs142883991 |
248 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs568517327 CA3970833 |
255 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 258 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238925659 CA365398990 |
259 | V>A | No |
ClinGen TOPMed |
|
|
CA365399098 rs1464654205 |
261 | M>I | No |
ClinGen gnomAD |
|
|
rs202102790 CA365399082 |
261 | M>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs202102790 CA3970836 |
261 | M>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA3970835 rs773769359 |
261 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs567629063 CA145925492 |
262 | A>P | No |
ClinGen Ensembl |
|
|
rs1285644929 CA365399188 |
263 | H>Q | No |
ClinGen TOPMed |
|
|
CA3970837 rs771157233 |
263 | H>R | No |
ClinGen ExAC |
|
| TCGA novel | 268 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365399341 rs1448778723 |
268 | F>I | No |
ClinGen gnomAD |
|
|
CA3970838 rs774797157 |
268 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759084740 CA3970839 |
269 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759084740 CA3970840 |
269 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162868413 CA365399548 |
271 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA365399561 rs752249790 |
272 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970841 rs752249790 |
272 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760317601 CA3970842 |
275 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA145925516 rs962694294 |
278 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3970843 rs763708116 |
279 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3970844 rs753653951 |
280 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1583348364 CA365399944 |
282 | E>G | No |
ClinGen Ensembl |
|
|
rs1377561643 CA365399974 |
283 | I>K | No |
ClinGen gnomAD |
|
|
CA3970846 rs778524477 |
284 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1473127240 CA365400058 |
285 | E>G | No |
ClinGen TOPMed |
|
|
CA145925523 rs923257747 |
289 | A>P | No |
ClinGen TOPMed |
|
|
rs974140330 CA145925524 |
290 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1207128366 CA365400241 |
290 | L>V | No |
ClinGen gnomAD |
|
|
rs1026130463 CA145925526 |
293 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1461608875 CA365400418 |
294 | G>E | No |
ClinGen gnomAD |
|
|
CA365400494 rs1235682233 |
297 | E>Q | No |
ClinGen gnomAD |
|
|
CA3970848 rs750281532 |
299 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970850 rs781463706 |
306 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970851 rs748215667 |
307 | I>T | No |
ClinGen ExAC |
|
|
CA365402899 rs1261882449 |
308 | A>E | No |
ClinGen TOPMed |
|
| TCGA novel | 310 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224591968 CA365402972 |
313 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365402980 rs1269058589 |
314 | N>Y | No |
ClinGen gnomAD |
|
|
CA365402993 rs1450524623 |
315 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA365403013 rs1196326617 COSM1072429 |
316 | M>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs935669530 CA145927031 |
317 | E>G | No |
ClinGen Ensembl |
|
|
rs752874566 CA3970869 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1169570115 CA365403059 |
319 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 321 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555060167 CA3970871 |
325 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771874160 CA145927036 |
325 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs771874160 CA3970870 |
325 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs777389220 CA145927041 |
327 | V>A | No |
ClinGen Ensembl |
|
|
rs202120877 CA3970872 |
328 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3970873 rs137859428 |
329 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3970877 CA3970878 rs772497509 |
332 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3970876 rs746372487 |
332 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365403234 rs1403798096 |
333 | E>K | No |
ClinGen TOPMed |
|
|
rs149463940 CA3970879 |
334 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365403268 rs1490552419 |
335 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA365403265 rs1490552419 |
335 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3970881 rs746613781 |
336 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970882 COSM202022 rs768472522 |
336 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA365403306 rs1355049649 |
337 | I>V | No |
ClinGen gnomAD |
|
|
rs1417495937 CA365403382 |
341 | L>F | No |
ClinGen TOPMed |
|
|
COSM293900 CA365403385 rs1263440360 |
341 | L>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365403423 rs1562391525 |
343 | Q>H | No |
ClinGen Ensembl |
|
|
rs1187504959 CA365403470 |
346 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA365403498 rs1448027492 |
348 | H>Y | No |
ClinGen gnomAD |
|
|
rs1041165726 CA145927082 |
351 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs773146934 CA3970886 |
353 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970887 rs143931549 |
354 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1072431 rs367712020 CA3970888 |
354 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780976417 CA365403596 CA365403597 |
355 | F>L | No |
ClinGen gnomAD |
|
|
rs371374918 CA3970890 |
356 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3970889 rs751402077 |
356 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA365403601 rs751402077 |
356 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3970891 rs764440557 |
358 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757303224 CA3970893 |
361 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3970896 rs758997589 |
363 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365403745 rs1207779229 |
365 | N>H | No |
ClinGen gnomAD |
|
|
CA3970897 rs780544760 |
366 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1562391610 CA365403812 |
367 | I>M | No |
ClinGen Ensembl |
|
|
rs374593650 CA145927128 |
370 | E>D | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 373 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970900 COSM1132053 rs768193419 |
374 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA365404002 rs1163511438 |
377 | E>D | No |
ClinGen gnomAD |
|
|
rs75485978 CA145927136 |
377 | E>K | No |
ClinGen TOPMed |
|
|
CA365404014 rs1364404754 |
378 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 384 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365404221 rs1583350684 |
385 | E>* | No |
ClinGen Ensembl |
|
|
CA3970903 rs368398120 |
389 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3970904 rs146363206 |
394 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762852589 CA3970905 |
396 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3970906 rs374623013 |
397 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs576716296 CA3970907 |
398 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759384223 CA3970908 |
407 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3970909 rs767230109 |
410 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365404954 rs754023097 |
413 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754023097 CA3970910 |
413 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365405001 rs1309035826 |
415 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs765312681 CA3970911 |
416 | A>S | No |
ClinGen ExAC |
|
|
rs780773871 CA3970914 |
417 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA145927178 rs746982967 |
418 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 421 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751963395 CA3970916 |
421 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201899176 CA3970917 |
422 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201899176 CA145927184 |
422 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365405385 rs1409826709 |
431 | Y>C | No |
ClinGen gnomAD |
|
|
CA365405479 rs1481566765 |
435 | N>S | No |
ClinGen gnomAD |
|
|
CA365405496 rs1177047219 |
436 | E>Q | No |
ClinGen gnomAD |
|
|
CA3970922 rs748859438 |
437 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs770838096 CA3970923 |
439 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365405573 rs1371043629 |
439 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3970925 rs759474274 |
440 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771858822 CA3970926 |
441 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219507629 CA365405638 |
442 | V>M | No |
ClinGen gnomAD |
|
|
CA365405716 rs146636625 |
445 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371062144 CA3970929 |
447 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145927221 rs897619640 |
449 | P>L | No |
ClinGen gnomAD |
|
|
COSM3429905 CA3970932 rs763187181 |
451 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs149776045 CA3970933 |
453 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1172202597 CA365405915 |
455 | A>S | No |
ClinGen gnomAD |
|
|
rs1390532154 CA365405926 |
456 | R>G | No |
ClinGen gnomAD |
|
|
CA365406011 rs1366911279 |
460 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA365406038 rs1364995758 |
461 | F>C | No |
ClinGen gnomAD |
|
|
rs1383539979 CA365406042 |
461 | F>L | No |
ClinGen gnomAD |
|
|
rs781595818 CA3970936 |
462 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3970939 rs777456038 |
465 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778423755 CA3970942 |
466 | L>F | No |
ClinGen ExAC |
|
|
CA3970943 rs745768195 |
467 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs771954225 CA3970944 |
468 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249509838 CA365406123 |
468 | A>V | No |
ClinGen TOPMed |
|
|
CA365406133 rs1190719133 |
469 | P>R | No |
ClinGen gnomAD |
|
|
rs1235268583 CA365406141 |
470 | I>F | No |
ClinGen TOPMed |
|
|
CA3970945 rs775326896 |
470 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3970947 rs770128223 |
474 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs888688300 CA145927283 |
475 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 478 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763276344 CA3970949 |
478 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3970950 rs766529254 |
479 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365406274 rs1402946955 |
480 | E>* | No |
ClinGen TOPMed |
|
|
CA365406294 rs1347581747 |
481 | S>N | No |
ClinGen gnomAD |
|
|
CA3970951 rs763229151 |
482 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs910839487 CA145927291 |
482 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365406354 rs1296082790 |
485 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767972956 CA365406362 |
486 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970953 rs767972956 |
486 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381907871 CA365406358 |
486 | A>T | No |
ClinGen gnomAD |
|
|
CA3970954 rs753088762 |
487 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1319995163 CA365406404 |
489 | A>V | No |
ClinGen gnomAD |
|
|
CA3970955 COSM3697464 rs764445960 |
490 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA365406416 rs1430613566 |
491 | I>V | No |
ClinGen TOPMed |
|
|
rs1176153573 CA365406468 |
495 | T>S | No |
ClinGen TOPMed |
|
|
CA365406499 rs1461108741 |
497 | V>G | No |
ClinGen gnomAD |
|
|
rs1298455003 CA365406512 |
498 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3970959 rs745412447 |
498 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3970961 rs779913947 |
500 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1262500014 CA365406622 |
506 | G>D | No |
ClinGen TOPMed |
|
|
rs78666631 CA145927324 |
509 | E>D | No |
ClinGen Ensembl |
|
|
CA365406711 rs1319019287 |
511 | E>D | No |
ClinGen gnomAD |
|
|
rs776601140 CA3970966 |
512 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA145927328 rs200440977 |
514 | E>* | No |
ClinGen 1000Genomes |
|
|
rs771315690 CA3970968 |
516 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365406798 rs1239973373 |
517 | E>D | No |
ClinGen TOPMed |
|
|
rs1326856617 CA365406811 |
518 | G>A | No |
ClinGen TOPMed |
|
|
rs1402177788 CA365406805 |
518 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3970970 rs759590293 |
519 | G>E | No |
ClinGen ExAC |
|
|
rs1230260590 CA365406813 |
519 | G>R | No |
ClinGen gnomAD |
|
|
CA365406816 rs1230260590 |
519 | G>W | No |
ClinGen gnomAD |
|
|
rs767646489 CA3970971 |
520 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143732959 CA3970974 |
521 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA145927343 rs977234347 |
522 | S>G | No |
ClinGen TOPMed |
|
|
CA3970976 rs756872874 |
524 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA365406974 rs1235596238 |
528 | D>G | No |
ClinGen gnomAD |
|
|
CA365407044 rs1468532647 |
532 | I>M | No |
ClinGen TOPMed |
|
|
CA3970977 rs764936440 |
532 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA365407046 rs1410551023 |
533 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 533 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564952458 CA145927350 |
533 | Q>R | No |
ClinGen Ensembl |
|
|
rs749938017 CA3970978 |
534 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA365407061 rs749938017 |
534 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs371774947 CA3970979 |
535 | I>L | No |
ClinGen ESP ExAC |
|
|
rs779624377 CA3970980 |
535 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 536 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751415229 CA365407085 |
536 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751415229 CA3970981 |
536 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3970982 rs754991928 |
537 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3970983 rs781115306 |
538 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA365407163 rs1349949219 |
542 | S>Y | No |
ClinGen gnomAD |
|
|
rs147813674 CA3970985 |
543 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365407209 rs1361774402 |
545 | V>F | No |
ClinGen TOPMed |
|
|
CA3970988 rs201238941 |
547 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276441013 CA365407266 |
549 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1562391990 CA365407281 |
550 | H>Y | No |
ClinGen Ensembl |
|
|
CA365407300 rs1201647147 |
551 | I>V | No |
ClinGen TOPMed |
|
|
rs1554249357 CA3970989 |
554 | Q>E | No |
ClinGen Ensembl |
|
|
rs1205744498 CA365407340 |
554 | Q>P | No |
ClinGen gnomAD |
|
|
CA365408552 rs1211059785 |
555 | G>D | No |
ClinGen gnomAD |
|
|
CA3971008 rs755903721 |
555 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777653223 CA3971009 |
556 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1319407589 CA365408610 |
559 | W>* | No |
ClinGen TOPMed |
|
|
rs1451660000 CA365408638 |
561 | N>K | No |
ClinGen gnomAD |
|
|
rs372876152 CA3971011 |
563 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365408682 rs1390051551 |
564 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 566 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 566 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391501802 CA365408785 |
569 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761126105 CA145927803 |
571 | E>K | No |
ClinGen gnomAD |
|
|
rs374224665 CA3971017 |
573 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762313978 CA3971018 |
574 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1246862235 CA365408913 |
575 | E>K | No |
ClinGen gnomAD |
|
|
COSM1072433 rs762494497 CA3971021 |
579 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA145927824 rs546592844 |
581 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA365409100 rs1209693326 |
581 | D>V | No |
ClinGen gnomAD |
|
|
CA365409132 rs1289283761 |
582 | Y>H | No |
ClinGen TOPMed |
|
|
CA365409159 rs141807210 |
583 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA145927830 rs914594241 |
584 | E>D | No |
ClinGen Ensembl |
|
|
CA3971024 rs751097186 |
588 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA365409308 rs784133 |
589 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1562392449 CA365409345 |
591 | L>F | No |
ClinGen Ensembl |
|
|
rs756097774 CA3971028 |
592 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA3971029 rs763773647 |
593 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319688295 CA365409417 |
594 | P>S | No |
ClinGen gnomAD |
|
|
CA3971030 rs753706353 |
595 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365409455 rs1397772112 |
596 | S>F | No |
ClinGen gnomAD |
|
|
rs1334668976 CA365409494 |
598 | D>G | No |
ClinGen gnomAD |
|
|
rs1405215123 CA365409532 |
600 | E>* | No |
ClinGen TOPMed |
|
|
CA365409648 rs1350567163 |
600 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA569691274 rs1339366678 |
600 | E>VV* | No |
ClinGen gnomAD |
|
|
rs1329715077 CA365409749 |
604 | I>M | No |
ClinGen TOPMed |
|
|
CA145928158 rs1031372447 |
604 | I>T | No |
ClinGen TOPMed |
|
|
rs767086063 CA3971048 |
605 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3971051 rs189421935 |
606 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138413282 CA3971053 |
606 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138413282 CA145928176 |
606 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs748664881 | 607 | W>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3971056 rs751741926 |
610 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751741926 CA3971055 |
610 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3971054 rs149268378 |
610 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1562392843 CA365409929 |
612 | S>P | No |
ClinGen Ensembl |
|
|
rs1264733965 CA365409975 |
614 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3971058 rs374633554 |
618 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748272434 CA3971059 |
621 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365410201 rs1562392873 |
623 | V>I | No |
ClinGen Ensembl |
|
|
CA145928189 rs377489011 |
625 | Q>K | No |
ClinGen ESP TOPMed |
|
|
rs920198802 CA145928192 |
626 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs9488991 VAR_037718 CA177730 |
627 | N>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365410316 rs1176590941 |
627 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs778281673 CA3971060 |
629 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 633 | Y>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 634 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771284555 CA3971062 |
637 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA365410603 rs1333934538 |
638 | G>D | No |
ClinGen TOPMed |
|
|
rs374757726 CA145928204 |
639 | K>E | No |
ClinGen ESP |
|
|
rs745492650 CA3971064 |
639 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA145928207 rs745492650 |
639 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3971087 rs139652971 |
640 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415347733 CA365412409 |
640 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1034818844 CA145928812 |
641 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 641 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA145928808 rs1034818844 |
641 | F>S | No |
ClinGen TOPMed |
|
|
CA365412472 rs1415142483 |
642 | E>D | No |
ClinGen gnomAD |
|
|
CA365412537 rs1323008510 |
645 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA145928822 rs375132889 |
646 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3971092 rs768174373 |
649 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761790658 CA145928837 |
650 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3971094 rs761790658 |
650 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365412661 rs1157121457 |
651 | K>N | No |
ClinGen TOPMed |
|
|
CA365412676 rs1292933256 |
652 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1317998246 CA365412733 |
656 | N>Y | No |
ClinGen gnomAD |
|
|
CA365412782 rs1268590757 |
658 | T>K | No |
ClinGen gnomAD |
|
|
rs1287458519 CA365412806 |
659 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1287458519 CA365412803 |
659 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3971099 rs752921062 |
660 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3971098 rs766162827 |
660 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760826067 CA3971100 |
661 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA365412865 rs1562393847 |
662 | P>R | No |
ClinGen Ensembl |
|
|
rs753902068 CA3971102 |
664 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA365412973 rs1413181648 |
668 | E>D | No |
ClinGen gnomAD |
|
|
CA3971103 rs757833921 |
670 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365413010 rs757833921 |
670 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1400425886 | 671 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA145928864 rs56159858 |
672 | G>E | No |
ClinGen Ensembl |
|
|
CA365413082 rs1449371414 |
673 | P>L | No |
ClinGen gnomAD |
|
|
rs1292113453 CA365413116 |
675 | I>V | No |
ClinGen TOPMed |
|
|
CA365413152 rs1411912608 |
677 | E>K | No |
ClinGen gnomAD |
|
|
rs1289146333 CA365413207 |
680 | D>N | No |
ClinGen gnomAD |
|
|
CA365413203 rs1289146333 |
680 | D>Y | No |
ClinGen gnomAD |
|
|
CA145928876 rs986516814 |
684 | E>D | No |
ClinGen Ensembl |
|
|
CA145928873 COSM3828878 rs866455021 |
684 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365413273 rs1341869559 |
685 | E>K | No |
ClinGen TOPMed |
|
|
rs758769598 CA3971106 |
686 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA145928882 rs867330180 |
687 | Q>R | No |
ClinGen Ensembl |
|
|
rs1318835215 CA365413325 |
688 | A>V | No |
ClinGen TOPMed |
|
|
CA3971107 rs780314469 |
691 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1254856122 CA365413392 |
693 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 694 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365413407 rs1483719333 |
694 | E>A | No |
ClinGen gnomAD |
|
|
CA3971109 rs768244517 |
696 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3971110 rs780723973 |
698 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372304999 CA365413463 |
699 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372304999 CA365413462 |
699 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427661647 CA365413466 |
699 | A>V | No |
ClinGen gnomAD |
|
|
rs774060823 CA3971116 |
704 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs760918788 CA3971117 |
704 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 705 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA145928913 rs535462909 |
707 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs535462909 CA3971120 |
707 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1233497105 CA365413596 |
708 | D>G | No |
ClinGen gnomAD |
|
|
rs1343722988 CA365413644 |
711 | E>D | No |
ClinGen gnomAD |
|
|
rs761926509 CA3971122 |
711 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3971123 rs765412618 |
712 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750920874 CA3971124 |
713 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 714 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365413694 rs1435760834 |
715 | Y>H | No |
ClinGen gnomAD |
|
|
rs1248833777 CA365413725 |
717 | D>K | No |
ClinGen gnomAD |
|
|
rs1248833777 CA365413727 |
717 | D>Q | No |
ClinGen gnomAD |
1 associated diseases with Q5TD94
[MIM: 612649]: Ciliary dyskinesia, primary, 11 (CILD11)
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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:19200523, ECO:0000269|PubMed:23798057, 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:19200523, ECO:0000269|PubMed:23798057, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q5TD94
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5TD94 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| radial spoke | Protein complex that links the outer microtubule doublet of the ciliary or flagellum axoneme with the sheath that surrounds the central pair of microtubules. Composed of a stalk that attaches to each doublet microtubule and a globular structure (spoke head) that projects toward the central pair of microtubules. |
| radial spoke head | Protein complex forming part of eukaryotic flagellar apparatus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| axoneme assembly | The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cilium movement | The directed, self-propelled movement of a cilium. |
| cilium movement involved in cell motility | Movement of cilia mediated by motor proteins that contributes to the movement of a cell. |
| maintenance of ciliary planar beating movement pattern | Any process involved in maintaining the planar beating pattern of ciliary movement pattern. Connection between the outer doublets and the central pair via the radial spokes constrains ciliary movement to the planar beating pattern. Cilia that lack this connection, such as those in the embryonic node or Kupfer's vesicle, display radial movement. |
| radial spoke assembly | The aggregation, arrangement and bonding together of a set of components to form the radial spoke, a protein complex that links the outer microtubule doublet of the ciliary or flagellum axoneme with the sheath that surrounds the central pair of microtubules. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9H0K4 | RSPH6A | Radial spoke head protein 6 homolog A | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEDSTSPKQE | KENQEELGET | RRPWEGKTAA | SPQYSEPESS | EPLEAKQGPE | TGRQSRSSRP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WSPQSRAKTP | LGGPAGPETS | SPAPVSPREP | SSSPSPLAPA | RQDLAAPPQS | DRTTSVIPEA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GTPYPDPLEQ | SSDKRESTPH | HTSQSEGNTF | QQSQQPKPHL | CGRRDVSYNN | AKQKELRFDV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FQEEDSNSDY | DLQQPAPGGS | EVAPSMLEIT | IQNAKAYLLK | TSSNSGFNLY | DHLSNMLTKI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LNERPENAVD | IFENISQDVK | MAHFSKKFDA | LQNENELLPT | YEIAEKQKAL | FLQGHLEGVD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QELEDEIAEN | ALPNVMESAF | YFEQAGVGLG | TDETYRIFLA | LKQLTDTHPI | QRCRFWGKIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLEMNYIVAE | VEFREGEDEE | EVEEEDVAEE | RDNGESEAHE | DEEDELPKSF | YKAPQAIPKE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ESRTGANKYV | YFVCNEPGRP | WVKLPPVIPA | QIVIARKIKK | FFTGRLDAPI | ISYPPFPGNE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SNYLRAQIAR | ISAGTHVSPL | GFYQFGEEEG | EEEEEAEGGR | NSFEENPDFE | GIQVIDLVES |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LSNWVHHVQH | ILSQGRCNWF | NSIQKNEEEE | EEEDEEKDDS | DYIEQEVGLP | LLTPISEDLE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IQNIPPWTTR | LSSNLIPQYA | IAVLQSNLWP | GAYAFSNGKK | FENFYIGWGH | KYSPDNYTPP |
| 670 | 680 | 690 | 700 | 710 | |
| VPPPVYQEYP | SGPEITEMDD | PSVEEEQAFR | AAQEAVLLAA | ENEESEEDED | EEDDYD |