Q6PIJ6
PR
Gene name |
FBXO38 |
Protein name |
F-box only protein 38 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81545 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6PIJ6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6PIJ6-F1 | Predicted | AlphaFoldDB |
790 variants for Q6PIJ6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002242279 rs1758391504 |
1 | M>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA361653428 RCV002241251 RCV002339569 rs1272218730 |
2 | G>R | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002235264 RCV002343371 RCV000651194 rs148337492 CA3496938 |
4 | R>Q | Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1581225783 CA361653662 RCV001858878 RCV000998457 |
21 | M>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs112086763 RCV002377488 RCV002242411 CA3496954 RCV003145602 |
31 | N>H | Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1400080044 RCV001330078 |
52 | C>Y | Neuronopathy, distal hereditary motor, type 2D [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002241936 rs1751991718 |
67 | Y>N | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002242126 rs1751992784 |
73 | V>missing | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002232637 rs751167811 CA3496992 |
80 | R>Q | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1185057010 CA361654669 RCV002234204 |
96 | T>A | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1306910725 RCV002233118 CA361654786 |
113 | R>* | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1433144114 RCV002241061 CA361654793 |
114 | Y>C | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs144375164 CA3497013 RCV002233564 |
114 | Y>H | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA128968636 rs749305250 RCV002325532 RCV002234340 |
137 | A>T | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771708027 CA3497047 RCV002240171 COSM214305 RCV002348369 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. liver pancreas Distal hereditary motor neuropathy type 2 breast Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA128968872 RCV002241854 rs560664064 |
177 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3497054 RCV002350379 RCV002232392 rs750935580 |
187 | I>M | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA361655406 rs1470214468 RCV002241298 |
187 | I>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA145479 VAR_070923 RCV002228189 rs398122838 RCV000077762 |
206 | C>R | Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 HMN2D; unable to promote activation of KLF7 target genes including CDKN1A and L1CAM in both cultured cells and patient-derived cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA3497082 rs757064226 RCV002239316 |
206 | C>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3497083 RCV002242132 RCV002366198 rs778733611 |
209 | M>V | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779718633 RCV002235379 CA361655823 |
211 | R>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000823270 rs1581241597 CA361655979 |
227 | K>Q | Neuronopathy, distal hereditary motor, type 2D [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002240415 rs763481232 CA3497094 |
230 | L>I | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002241118 CA361656017 rs1453234833 |
232 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002237145 rs370799682 CA3497097 |
236 | T>N | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs144890577 RCV002235065 RCV002363127 RCV001729712 CA3497099 |
238 | V>I | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144890577 CA3497100 RCV002235262 |
238 | V>L | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs760815624 RCV002232393 CA3497122 |
261 | A>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs896205714 CA128970752 RCV002242011 |
271 | R>Q | Distal hereditary motor neuropathy type 2 Variant assessed as Somatic; 4.631e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002242000 rs1752601122 |
291 | G>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3497148 RCV002370089 RCV002233883 rs767430187 |
305 | N>K | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1752606337 RCV002240385 |
309 | V>G | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3497149 RCV002235508 RCV002499116 RCV002369752 rs142117467 RCV001027484 |
311 | L>I | Neuronopathy, distal hereditary motor, type 2D Charcot-Marie-Tooth disease Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002240361 CA3497152 rs779869264 |
320 | R>C | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763613189 RCV002241492 CA3497172 |
326 | R>W | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002241556 CA3497175 rs764932115 |
330 | S>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002242428 RCV002350660 rs1051684244 CA128973181 |
338 | S>A | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3497215 rs201279960 RCV002434027 RCV002235458 |
373 | V>M | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554080059 RCV000651187 CA361658693 |
385 | G>V | Neuronopathy, distal hereditary motor, type 2D [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002240392 CA3497223 rs751242312 RCV002327333 |
390 | I>M | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002240407 CA3497222 rs141355914 |
390 | I>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199972552 RCV002235918 CA3497221 |
390 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002240531 rs1752930598 |
420 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002235517 rs1554080351 CA361659057 |
437 | C>F | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770394960 RCV002232913 CA3497256 CA3497257 |
443 | D>E | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
CA3497263 RCV002395464 RCV002232384 rs200187682 |
465 | R>H | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770228743 CA3497285 RCV002235077 |
473 | R>Q | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1561531225 RCV002234115 CA361659791 |
491 | N>H | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1753104074 RCV002241947 |
513 | H>D | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3497301 RCV002240527 rs191831422 |
514 | H>Y | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs376255193 RCV000812778 CA3497310 RCV002235029 COSM1619813 |
526 | R>Q | liver Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779438870 CA3497314 RCV002235516 |
540 | A>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1753582545 RCV002242343 |
548 | V>G | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402780 rs751449877 CA3497332 RCV002241544 |
548 | V>I | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA128948235 rs1012140873 RCV002234925 |
555 | V>M | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA361654502 rs1554081337 RCV002235509 |
561 | N>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748051444 RCV002235299 CA128948247 |
562 | T>I | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779538575 CA3497340 RCV002237148 |
563 | P>Q | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA128948252 rs371915188 RCV002242238 |
564 | A>P | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV002233333 rs772345898 CA3497346 |
569 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3497348 rs766059420 RCV002240314 |
571 | P>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002242136 rs759341101 CA3497350 |
577 | E>Q | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002241678 CA3497377 rs144744644 |
586 | R>C | Variant assessed as Somatic; 0.0 impact. Distal hereditary motor neuropathy type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs369833842 CA128948856 RCV002235514 |
586 | R>P | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002233565 rs553996394 CA3497379 |
587 | V>I | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002241917 rs10043775 |
592 | S>A | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780773753 RCV002240396 CA3497381 |
593 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554081566 CA361655437 RCV002235515 |
597 | D>E | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781374639 RCV002241512 CA3497384 RCV001238438 |
599 | E>A | Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3497389 rs771845635 RCV002235261 |
610 | Q>P | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002413622 CA3497390 rs201999494 RCV002232385 |
612 | V>I | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000664246 CA3497398 RCV002233094 rs766830490 |
620 | R>Q | Distal spinal muscular atrophy Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002233622 CA3497397 rs539397614 |
620 | R>W | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3497399 rs146121161 RCV002242510 |
621 | R>C | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199901955 RCV002232386 CA3497400 RCV002413623 |
621 | R>H | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002235829 rs140204686 CA3497428 |
653 | N>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3497429 rs370471937 RCV002422585 RCV002232951 |
656 | Q>H | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1753763617 RCV002240168 |
657 | M>K | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748950456 RCV002233440 CA3497431 |
662 | Q>R | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1064037 CA3497432 RCV002235113 rs770649145 |
666 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium Distal hereditary motor neuropathy type 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002234963 rs775906161 CA3497436 |
685 | M>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765514195 RCV002241853 RCV003145540 CA3497441 |
691 | I>T | Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1581280139 RCV000790991 CA361656775 |
692 | P>L | Neuronopathy, distal hereditary motor, type 2D [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs569854063 CA3497444 RCV002241632 |
699 | D>N | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3497449 RCV002235273 rs776182581 |
709 | A>G | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1753773505 RCV002241209 |
712 | V>L | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150893158 RCV002431696 RCV000550299 CA3497452 RCV002232388 |
716 | S>G | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002237116 rs1027079492 CA128949933 |
719 | N>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3497457 rs548894296 RCV002235268 |
726 | D>N | Distal hereditary motor neuropathy type 2 Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002242008 CA3497460 rs763198382 |
728 | V>I | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs767223993 RCV002235265 CA3497461 |
730 | T>M | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002240500 CA3497468 rs745545823 |
734 | G>A | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002233181 rs745545823 CA361657243 RCV002424603 |
734 | G>D | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140445029 RCV002235830 CA3497467 |
734 | G>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002241054 RCV002429886 CA3497470 rs779561720 |
735 | G>S | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs141211499 RCV002233127 CA3497473 |
738 | E>K | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145266253 RCV002234931 CA3497478 |
745 | D>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002232917 rs1188977922 CA361657393 |
753 | S>A | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1300558545 CA361657425 RCV002241064 |
759 | D>N | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs770230868 RCV002240376 CA3497494 |
778 | C>S | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3497498 RCV002431697 RCV002232636 RCV001764607 rs116266000 |
781 | P>S | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002241460 rs116266000 CA3497499 |
781 | P>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs751618541 CA361657710 RCV002235115 |
801 | R>L | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002458141 CA3497508 RCV002235263 rs757209133 |
808 | P>L | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002424666 rs183483408 CA3497568 RCV002233318 |
892 | R>H | Variant assessed as Somatic; 0.0 impact. Distal hereditary motor neuropathy type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3497571 RCV002232638 VAR_049049 rs11949133 RCV001637080 |
894 | A>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3497572 rs758909222 RCV002551379 RCV002237129 |
895 | M>V | Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138967647 CA3497574 RCV002427035 RCV002235114 |
897 | R>W | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755084155 CA3497575 RCV002241418 |
899 | R>W | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA361659527 rs1554082512 RCV002235512 |
919 | V>I | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3497596 rs372479730 RCV002240374 |
932 | M>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1463668452 CA361659724 RCV002235267 |
934 | N>S | Variant assessed as Somatic; 0.0 impact. Distal hereditary motor neuropathy type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA361659805 rs1347172293 RCV002234929 |
940 | L>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs371555180 RCV002534433 RCV002440535 CA3497626 |
963 | K>N | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002233280 CA128955547 rs148580014 |
966 | N>K | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA3497628 RCV002235510 rs141168806 |
968 | P>R | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002232868 rs373620719 CA128955549 |
969 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002241414 rs1754471311 |
970 | V>L | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002233624 rs760782381 CA3497637 |
999 | R>C | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002438476 rs112383068 RCV001700219 CA3497642 RCV002232389 |
1007 | Q>K | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1020465041 RCV002234800 CA128956178 |
1016 | Q>R | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002242461 CA361660895 rs1269391994 |
1044 | R>C | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1754565238 RCV002241615 |
1044 | R>H | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel RCV002241321 rs1208732580 |
1047 | S>N | Variant assessed as Somatic; impact. Distal hereditary motor neuropathy type 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1399229383 RCV002235513 CA361660968 |
1055 | I>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1044917671 RCV002240575 |
1071 | S>T | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA361661110 rs1581313648 RCV002234779 |
1073 | E>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3497690 rs757930681 RCV002241063 |
1079 | P>H | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001197408 rs1754612690 |
1082 | P>A | Neuronopathy, distal hereditary motor, type 2D [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201719515 RCV002233824 CA3497692 |
1087 | I>M | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779324806 RCV002241294 CA3497723 RCV001222209 |
1093 | V>I | Neuronopathy, distal hereditary motor, type 2D Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA361661425 RCV002241269 rs147580008 |
1118 | S>R | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3497731 RCV001824854 rs149713669 |
1121 | R>Q | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002232390 CA3497734 rs145662452 COSM74634 |
1127 | D>N | ovary Variant assessed as Somatic; 0.0 impact. Distal hereditary motor neuropathy type 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002233882 CA361661524 rs1561551063 |
1131 | T>P | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002235266 rs1554083508 CA361661605 |
1143 | A>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002233671 rs550138374 CA3497752 |
1147 | M>V | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764469305 CA3497755 RCV002232831 |
1157 | M>I | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754331887 CA3497756 RCV002241597 |
1158 | R>H | Variant assessed as Somatic; 0.0 impact. Distal hereditary motor neuropathy type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002242274 RCV002341670 CA128957219 rs997254848 |
1161 | K>T | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002240991 CA128957227 rs902315086 |
1164 | V>I | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1754718621 RCV002237149 |
1169 | V>A | Distal hereditary motor neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373082610 RCV002334382 CA3497762 RCV002232980 |
1179 | N>S | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002232391 RCV002456241 rs143682696 CA3497763 |
1183 | V>I | Distal hereditary motor neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746177467 CA3496937 |
4 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs776031529 CA3496939 |
6 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160174748 COSM1619810 CA361653531 |
12 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3496942 rs776731745 |
13 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3496944 rs765497349 |
14 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761962652 CA3496943 |
14 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1243428172 CA361653562 |
14 | N>Y | No |
ClinGen gnomAD |
|
|
CA361653580 rs1429434317 |
15 | N>S | No |
ClinGen gnomAD |
|
|
CA3496945 rs751405536 |
17 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs769472447 CA3496947 |
21 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3496948 rs752626585 |
23 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3496950 rs777181109 |
24 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283977713 CA361653745 |
27 | K>E | No |
ClinGen gnomAD |
|
|
rs775196268 CA3496952 |
29 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927460825 CA361653800 |
30 | M>L | No |
ClinGen gnomAD |
|
|
CA128965359 rs927460825 |
30 | M>V | No |
ClinGen gnomAD |
|
|
rs572118800 CA3496955 |
33 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 38 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361653912 rs1444896355 |
38 | L>V | No |
ClinGen gnomAD |
|
|
CA361653946 rs1192552324 |
40 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs545819462 CA3496956 |
41 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747500533 CA3496957 |
43 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3496979 rs770050273 |
44 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403533819 CA361654069 |
46 | P>L | No |
ClinGen TOPMed |
|
|
rs1342914570 CA361654087 |
49 | D>G | No |
ClinGen TOPMed |
|
|
CA361654085 rs1327513135 |
49 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3496981 rs375508631 |
51 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361654099 rs1335692035 |
51 | M>V | No |
ClinGen gnomAD |
|
|
CA361654110 rs1400080044 |
52 | C>S | No |
ClinGen TOPMed |
|
|
rs1317640023 CA361654107 |
52 | C>S | No |
ClinGen gnomAD |
|
|
CA361654115 rs1361110357 |
53 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs760456022 CA3496984 |
58 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA3496983 rs775165552 |
58 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361654191 rs1248251990 |
64 | V>M | No |
ClinGen gnomAD |
|
|
CA3496987 rs761704413 |
69 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764755944 CA3496988 |
70 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361654244 rs1425671879 |
73 | V>G | No |
ClinGen TOPMed |
|
|
CA3496989 rs749885240 |
74 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3496990 rs758058399 |
77 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs996604793 CA128967252 |
78 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs765989865 CA3496991 |
79 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1487923917 CA361654284 |
80 | R>W | No |
ClinGen TOPMed |
|
|
CA361654322 rs1311479907 |
85 | M>V | No |
ClinGen gnomAD |
|
|
CA3496994 rs781388776 |
86 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3496995 rs748706886 |
87 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA128968585 rs1050104589 |
90 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA128968588 rs916170099 |
92 | A>S | No |
ClinGen TOPMed |
|
|
rs1554078505 CA361654647 |
92 | A>V | No |
ClinGen Ensembl |
|
|
rs751275726 CA3497011 |
93 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 98 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361654710 rs1309699514 |
101 | M>I | No |
ClinGen TOPMed |
|
|
rs1392489697 CA361654713 |
102 | P>S | No |
ClinGen TOPMed |
|
|
rs889667327 CA128968627 |
104 | V>I | No |
ClinGen Ensembl |
|
|
rs1370580212 CA361654755 |
108 | Y>C | No |
ClinGen TOPMed |
|
|
rs1201701262 CA361654787 |
113 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3497014 rs753065225 |
118 | R>* | No |
ClinGen ExAC |
|
|
rs1032616982 CA128968630 |
123 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs756706023 CA3497015 |
126 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749812779 CA3497017 |
135 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs949714933 CA128968637 COSM1064030 |
138 | C>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1251129820 CA361654979 |
142 | V>A | No |
ClinGen TOPMed |
|
|
CA3497036 rs376022612 |
143 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 150 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497039 rs539415665 |
157 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs998907955 CA128968808 |
157 | T>K | No |
ClinGen TOPMed |
|
|
CA3497041 rs769626215 |
160 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581237754 CA361655130 |
160 | P>T | No |
ClinGen Ensembl |
|
|
CA361655139 rs749280386 |
161 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497043 rs749280386 |
161 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361655137 rs1244178138 |
161 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA128968836 rs111573585 |
162 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 163 | H>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497045 rs773928302 |
165 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA361655172 rs1404180680 |
166 | G>E | No |
ClinGen gnomAD |
|
|
CA128968854 rs868858142 |
166 | G>R | No |
ClinGen Ensembl |
|
|
CA3497048 rs775344509 |
170 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497050 rs764581076 |
178 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916150076 CA128968873 |
179 | P>L | No |
ClinGen TOPMed |
|
|
CA361655301 rs1554078595 |
179 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 183 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141865221 COSM108308 CA128968875 |
185 | I>T | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA361655392 rs1206071707 |
186 | P>A | No |
ClinGen TOPMed |
|
|
CA3497053 rs765594916 |
187 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 190 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 191 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361655664 rs1429852704 |
199 | V>M | No |
ClinGen gnomAD |
|
|
CA361655692 rs1368776043 |
201 | V>I | No |
ClinGen TOPMed |
|
|
rs1478986111 CA361655706 |
202 | P>A | No |
ClinGen gnomAD |
|
|
rs1159462408 CA361655713 |
203 | E>* | No |
ClinGen gnomAD |
|
|
CA3497080 rs767575591 |
203 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs375017569 CA3497081 COSM1696506 |
205 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745827829 CA3497084 |
209 | M>K | No |
ClinGen ExAC TOPMed |
|
|
CA3497087 rs746462800 |
212 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs768270226 CA3497088 |
213 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776215149 CA3497089 |
214 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274615349 CA361655869 |
215 | M>T | No |
ClinGen gnomAD |
|
|
rs747805838 CA3497090 |
218 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs747805838 CA361655909 |
218 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1287649129 CA361655934 |
220 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287649129 CA361655932 |
220 | L>I | No |
ClinGen gnomAD |
|
|
rs1317657944 CA361655943 |
221 | T>N | No |
ClinGen gnomAD |
|
|
CA3497092 rs773576916 |
222 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1193465515 CA361655954 |
223 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 229 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763481232 CA3497093 |
230 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA361656023 rs1376854555 |
233 | S>G | No |
ClinGen gnomAD |
|
|
rs199969692 CA361656055 |
237 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376707839 CA361656226 |
249 | L>S | No |
ClinGen gnomAD |
|
|
CA361656252 rs1445578919 |
251 | Y>C | No |
ClinGen gnomAD |
|
|
CA3497121 rs775603179 |
253 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1289910559 CA361656372 |
262 | R>* | No |
ClinGen gnomAD |
|
|
rs1255912171 CA361656375 |
262 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361656381 rs1183982943 |
263 | N>D | No |
ClinGen gnomAD |
|
|
CA3497125 rs546335162 |
263 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361656490 rs766246325 |
271 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1216060808 CA361656497 |
272 | V>I | No |
ClinGen gnomAD |
|
|
rs1169253883 CA361656622 |
282 | V>I | No |
ClinGen gnomAD |
|
|
rs751596450 CA3497127 |
283 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361656740 rs1470476109 |
286 | S>G | No |
ClinGen gnomAD |
|
|
CA3497128 rs754895300 |
289 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs762106449 CA3497144 |
290 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361656994 rs1295846971 |
295 | L>V | No |
ClinGen gnomAD |
|
|
CA361657008 rs1219792124 |
296 | H>Y | No |
ClinGen gnomAD |
|
|
CA361657023 rs1372471354 |
297 | T>A | No |
ClinGen TOPMed |
|
|
rs149020291 CA3497147 |
298 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128972252 rs889477496 |
300 | L>V | No |
ClinGen TOPMed |
|
|
rs1581248511 CA361657088 |
303 | C>S | No |
ClinGen Ensembl |
|
|
rs112093603 CA128972255 |
306 | A>T | No |
ClinGen Ensembl |
|
|
rs1214500024 CA361657160 |
309 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 310 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142117467 CA361657183 |
311 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1193489755 CA361657217 |
314 | L>V | No |
ClinGen gnomAD |
|
|
CA128972294 rs151159697 |
315 | I>M | No |
ClinGen ESP |
|
|
CA128972304 rs1012527321 |
319 | A>S | No |
ClinGen TOPMed |
|
|
CA3497153 rs756850214 |
320 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1447425253 CA361657289 |
321 | R>K | No |
ClinGen gnomAD |
|
|
CA361657947 rs1561526285 |
323 | H>Y | No |
ClinGen Ensembl |
|
|
rs938860436 CA128973154 |
326 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3497176 rs750041421 |
334 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361658108 rs1561526347 |
337 | F>C | No |
ClinGen Ensembl |
|
|
rs1472942515 CA361658131 |
339 | A>D | No |
ClinGen gnomAD |
|
|
CA128973186 rs889149643 |
341 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1423168095 CA361658223 |
346 | E>D | No |
ClinGen gnomAD |
|
|
rs1208903647 CA361658244 |
348 | P>L | No |
ClinGen TOPMed |
|
|
CA3497178 rs758839843 |
349 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs771014318 CA361658558 |
365 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276006062 CA361658576 |
368 | A>T | No |
ClinGen gnomAD |
|
|
rs775012225 CA128975582 |
369 | N>K | No |
ClinGen Ensembl |
|
|
rs779899138 CA3497212 |
370 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497211 rs779899138 |
370 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361658616 rs1247222449 |
374 | K>M | No |
ClinGen gnomAD |
|
|
rs1581256045 CA361658649 |
379 | D>G | No |
ClinGen Ensembl |
|
|
rs1581256059 CA361658665 |
381 | V>G | No |
ClinGen Ensembl |
|
|
CA361658660 rs1478854913 |
381 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 385 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769370247 CA3497217 |
386 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3497216 rs571472179 |
386 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361658700 rs1271122205 |
387 | I>V | No |
ClinGen TOPMed |
|
|
CA361658722 rs141355914 |
390 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361658733 rs1333352440 |
392 | M>K | No |
ClinGen gnomAD |
|
|
rs767961352 CA3497225 |
396 | N>S | No |
ClinGen ExAC |
|
|
CA361658770 rs1434711875 |
397 | E>G | No |
ClinGen gnomAD |
|
|
rs1375694159 CA361658784 |
399 | F>S | No |
ClinGen TOPMed |
|
|
CA3497226 rs200134475 |
400 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 400 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497228 rs777938088 |
401 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361658796 rs777938088 |
401 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757349169 CA3497230 |
402 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361658810 rs1290446201 |
403 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1290446201 CA361658809 |
403 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3497233 rs768492218 |
406 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 406 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361658851 rs1256846374 |
409 | N>S | No |
ClinGen gnomAD |
|
|
rs780918223 CA3497234 |
412 | H>Y | No |
ClinGen ExAC |
|
| TCGA novel | 414 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361658884 rs1168262998 |
414 | H>R | No |
ClinGen TOPMed |
|
|
rs750669659 CA3497249 |
423 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA361658998 rs1164752305 |
428 | R>Q | No |
ClinGen gnomAD |
|
|
CA361659017 rs1401681622 COSM275143 |
431 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1401681622 CA361659018 |
431 | D>V | No |
ClinGen gnomAD |
|
|
CA128976702 rs747881514 |
434 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361659041 rs1393836086 |
435 | V>I | No |
ClinGen gnomAD |
|
|
CA3497254 rs777638200 |
436 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361659128 rs1318477469 |
443 | D>H | No |
ClinGen TOPMed |
|
|
CA3497255 rs749218891 |
443 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA361659170 rs1561530471 |
446 | G>V | No |
ClinGen Ensembl |
|
|
rs1255972131 CA361659183 |
447 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs776006698 CA3497260 |
455 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM736455 rs764491940 CA3497262 |
465 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA361659583 rs1172459945 |
473 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3497286 rs773697924 |
480 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA361659691 rs1286988303 |
482 | I>N | No |
ClinGen gnomAD |
|
|
rs763088244 CA3497287 |
483 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3497288 rs766414509 |
485 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3497291 rs369925979 |
492 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3497292 rs753598712 |
495 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361659861 rs1355866391 |
496 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA361659868 rs1315072548 |
496 | N>S | No |
ClinGen TOPMed |
|
|
CA3497294 rs748833930 |
498 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM590665 CA361659893 rs748833930 |
498 | D>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361659971 rs1193261921 |
503 | N>S | No |
ClinGen gnomAD |
|
|
CA3497295 rs750378908 |
504 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA128977649 rs200393663 |
504 | N>S | No |
ClinGen 1000Genomes |
|
|
rs1172615649 CA361659999 |
505 | N>S | No |
ClinGen gnomAD |
|
|
CA3497297 rs187292361 COSM205804 |
510 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs746674990 CA3497298 |
511 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497303 rs183680532 |
515 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439905222 CA361660087 |
516 | P>S | No |
ClinGen gnomAD |
|
|
CA3497304 rs763426088 |
518 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA128977696 rs267600478 |
518 | D>Y | No |
ClinGen Ensembl |
|
|
rs1306444548 CA361660119 |
521 | E>K | No |
ClinGen gnomAD |
|
|
CA361660129 rs1224512398 |
522 | E>* | No |
ClinGen gnomAD |
|
|
rs767718028 CA3497308 |
522 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1468271814 CA361660136 |
523 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs752847212 CA3497309 |
524 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA361660156 rs1441208493 |
525 | F>L | No |
ClinGen gnomAD |
|
|
CA3497311 rs765104750 |
528 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1424326950 CA361660176 |
529 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA128977721 rs928826029 |
531 | P>A | No |
ClinGen TOPMed |
|
|
rs750411492 CA3497312 |
533 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs921281098 CA128977744 |
534 | Q>R | No |
ClinGen TOPMed |
|
|
rs1392223941 CA361660224 |
536 | F>V | No |
ClinGen gnomAD |
|
|
rs1460688537 CA361660231 |
537 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1331746728 CA361660233 |
537 | A>V | No |
ClinGen gnomAD |
|
|
CA361654385 rs1274071247 |
544 | M>L | No |
ClinGen TOPMed |
|
|
rs751449877 CA3497333 |
548 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258999457 CA361654421 |
549 | Q>* | No |
ClinGen gnomAD |
|
|
CA361654424 rs1212434953 |
549 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs766913395 CA3497334 |
551 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3497336 rs752367593 |
554 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752367593 CA3497335 |
554 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003116892 CA128948239 |
557 | E>G | No |
ClinGen TOPMed |
|
|
rs556139503 COSM1206832 CA3497338 |
557 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA128948241 rs1047521757 |
560 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 561 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497339 rs748051444 |
562 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426177166 CA361654513 |
563 | P>A | No |
ClinGen gnomAD |
|
|
CA361654516 rs779538575 |
563 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361654514 rs1426177166 |
563 | P>S | No |
ClinGen gnomAD |
|
|
rs1193529638 CA361654520 |
564 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 565 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746327159 CA3497341 |
565 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3497342 rs772218730 |
566 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs775673656 CA3497343 |
566 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA361654533 rs375251121 |
566 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 568 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361654559 rs1367887797 |
570 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361654571 rs1346600618 |
572 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 573 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361654585 rs1277462492 |
574 | V>A | No |
ClinGen TOPMed |
|
|
CA361654601 rs774397096 |
576 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497351 rs767084434 |
580 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA361655220 rs1393305851 |
581 | P>R | No |
ClinGen gnomAD |
|
|
rs760241023 CA3497374 |
582 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3497375 rs763560816 |
583 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497378 rs369833842 |
586 | R>H | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA128948858 rs369833842 |
586 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458391761 CA361655364 |
592 | S>L | No |
ClinGen gnomAD |
|
|
rs10043775 VAR_028099 CA3497380 |
592 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1241507876 CA361655390 |
594 | T>I | No |
ClinGen TOPMed |
|
|
rs1437368668 CA361655403 |
595 | V>G | No |
ClinGen gnomAD |
|
|
rs755159392 CA3497383 |
596 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361655424 rs1306824476 |
597 | D>H | No |
ClinGen TOPMed |
|
|
rs1222414075 CA361655515 |
602 | D>E | No |
ClinGen TOPMed |
|
|
CA3497385 rs142993470 |
602 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769839908 CA3497386 |
603 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA361655553 rs1234054639 |
605 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs770127165 CA128948930 |
606 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778782230 CA3497387 |
607 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs915646541 CA128948937 |
609 | L>P | No |
ClinGen gnomAD |
|
|
rs915646541 CA361655583 |
609 | L>R | No |
ClinGen gnomAD |
|
|
CA3497388 rs745708269 |
610 | Q>E | No |
ClinGen ExAC |
|
|
CA361655601 rs1412789639 |
612 | V>A | No |
ClinGen gnomAD |
|
|
CA128948955 rs973560359 |
614 | I>M | No |
ClinGen gnomAD |
|
|
CA3497391 rs760580207 |
614 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361655620 rs1345413435 |
615 | P>H | No |
ClinGen TOPMed |
|
|
rs768175390 CA3497392 |
616 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs775938916 CA3497393 |
616 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3497394 rs761543350 |
617 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA3497396 rs750086990 |
618 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767709334 CA3497401 |
623 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3497402 rs752661132 |
625 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3497403 rs756205818 |
625 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1376821948 CA361655741 |
627 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312253657 CA361655771 |
629 | T>S | No |
ClinGen gnomAD |
|
|
rs1383739086 CA361655793 |
631 | E>A | No |
ClinGen gnomAD |
|
|
rs1362537121 CA361655788 |
631 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 631 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497404 rs777920741 |
633 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1486350778 CA361655832 |
634 | Q>R | No |
ClinGen TOPMed |
|
|
CA128949016 rs868678931 |
635 | S>F | No |
ClinGen Ensembl |
|
|
rs142402947 CA361655898 |
638 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754767072 CA3497426 |
641 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1319261635 CA361656119 |
641 | S>R | No |
ClinGen gnomAD |
|
|
CA361656134 rs200053204 |
643 | K>I | No |
ClinGen gnomAD |
|
|
rs200053204 CA128949737 |
643 | K>R | No |
ClinGen gnomAD |
|
|
CA361656138 rs1489040753 |
644 | G>R | No |
ClinGen gnomAD |
|
|
CA361656151 rs1561539199 |
646 | T>P | No |
ClinGen Ensembl |
|
|
COSM298670 CA128949739 rs865970485 |
649 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA361656191 rs1284629643 |
650 | K>Q | No |
ClinGen TOPMed |
|
|
CA3497427 rs565315365 |
651 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128949750 rs140204686 |
653 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs901582757 CA128949758 |
658 | G>V | No |
ClinGen gnomAD |
|
|
CA128949767 rs772739552 |
659 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407992248 CA361656363 |
660 | S>L | No |
ClinGen gnomAD |
|
|
CA361656382 rs1156908271 |
662 | Q>E | No |
ClinGen gnomAD |
|
|
rs1156908271 CA361656385 |
662 | Q>K | No |
ClinGen gnomAD |
|
|
rs1410536767 CA361656413 |
663 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 663 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 665 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 667 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361656495 rs1306227654 |
669 | S>G | No |
ClinGen TOPMed |
|
|
rs143902310 CA3497433 |
670 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 671 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 678 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760043770 CA3497435 |
679 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA128949789 rs976766540 |
684 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361656681 rs1375697931 |
684 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1375697931 CA361656683 |
684 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA361656690 rs775906161 |
685 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497437 rs761191914 |
685 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764109688 CA3497438 |
686 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA128949811 rs913559304 |
688 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1233084719 CA361656747 |
690 | D>E | No |
ClinGen gnomAD |
|
|
rs753859838 CA3497439 |
690 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361656759 rs765514195 |
691 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3497440 rs761871705 |
691 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128949822 rs78530338 |
695 | K>E | No |
ClinGen Ensembl |
|
|
CA128949837 rs1001003489 |
696 | K>R | No |
ClinGen gnomAD |
|
|
rs750617094 CA3497442 |
697 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1262248200 CA361656842 |
699 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 700 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031191628 CA128949868 |
700 | V>I | No |
ClinGen Ensembl |
|
|
rs1171456593 CA361656860 |
702 | P>S | No |
ClinGen gnomAD |
|
|
CA3497445 rs752609855 |
704 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1013990216 CA128949886 |
705 | S>N | No |
ClinGen Ensembl |
|
|
CA361656894 rs1581280291 |
707 | T>P | No |
ClinGen Ensembl |
|
|
rs777160348 CA3497447 |
709 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3497448 rs776182581 |
709 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361656918 rs1406784524 |
711 | T>A | No |
ClinGen TOPMed |
|
|
rs778748199 CA3497450 |
711 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3497451 rs745488826 |
713 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1581280395 CA361656963 |
715 | S>A | No |
ClinGen Ensembl |
|
|
rs1403793745 CA361656983 |
716 | S>N | No |
ClinGen TOPMed |
|
|
CA361656974 rs150893158 |
716 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775881131 CA3497453 |
717 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA361656992 rs775881131 |
717 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA361657015 rs1387649616 |
718 | H>Q | No |
ClinGen TOPMed |
|
|
rs984639084 CA128949942 |
720 | T>S | No |
ClinGen Ensembl |
|
|
CA3497455 rs769266191 |
721 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1168710534 CA361657062 |
722 | S>T | No |
ClinGen gnomAD |
|
|
rs376265947 CA128949954 |
724 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1156330295 CA361657106 |
725 | P>A | No |
ClinGen TOPMed |
|
|
rs765282902 CA3497458 |
726 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361657136 rs1197780397 |
727 | F>V | No |
ClinGen TOPMed |
|
|
rs767223993 CA3497462 |
730 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497465 rs753791976 |
733 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs779561720 CA361657250 |
735 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497471 rs747475062 |
736 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3497474 rs762262985 |
739 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3497475 rs769897494 |
740 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3497477 rs372364064 |
744 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775231619 CA128950030 |
745 | D>E | No |
ClinGen Ensembl |
|
|
rs1171801883 CA361657349 |
746 | V>A | No |
ClinGen gnomAD |
|
|
rs1375395973 CA361657356 |
748 | R>G | No |
ClinGen gnomAD |
|
|
rs147616050 CA3497479 |
750 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147616050 CA3497480 |
750 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147616050 CA361657374 |
750 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763955625 CA3497481 |
753 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA361657392 rs1188977922 |
753 | S>P | No |
ClinGen TOPMed |
|
|
CA361657401 rs1343867298 |
754 | P>L | No |
ClinGen gnomAD |
|
|
rs201279543 CA3497484 |
755 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201279543 CA3497483 |
755 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 755 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497485 rs749888998 |
757 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1442932415 CA361657422 |
758 | E>V | No |
ClinGen TOPMed |
|
|
CA3497486 rs757844566 |
760 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 762 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217492640 CA361657446 |
762 | A>T | No |
ClinGen TOPMed |
|
|
rs746619833 CA3497488 |
763 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA361657468 rs1236016528 |
765 | E>K | No |
ClinGen gnomAD |
|
|
CA361657476 rs1277821543 |
766 | G>R | No |
ClinGen gnomAD |
|
|
rs142129179 CA3497490 |
768 | A>G | No |
ClinGen ESP TOPMed |
|
|
CA128950075 rs979056455 |
768 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361657500 rs1363523912 |
769 | E>D | No |
ClinGen TOPMed |
|
|
CA361657505 rs1485057991 |
770 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3497492 rs781500484 |
772 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361657533 rs1215802855 |
774 | P>L | No |
ClinGen gnomAD |
|
|
rs1470549535 CA361657535 |
775 | R>G | No |
ClinGen gnomAD |
|
|
CA3497493 rs748662910 |
775 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA361657542 rs1400525129 |
776 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770230868 CA3497495 |
778 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394783707 CA361657567 |
779 | H>R | No |
ClinGen gnomAD |
|
|
rs749448948 CA3497496 |
780 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281251888 CA361657594 |
783 | E>G | No |
ClinGen gnomAD |
|
|
CA128950130 COSM77712 rs918469771 |
785 | Q>R | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 786 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962189016 CA361657624 |
788 | T>A | No |
ClinGen gnomAD |
|
|
CA128950135 rs962189016 |
788 | T>P | No |
ClinGen gnomAD |
|
|
rs763910793 CA128950138 |
789 | S>N | No |
ClinGen Ensembl |
|
|
CA361657635 rs1388163904 |
789 | S>R | No |
ClinGen TOPMed |
|
|
CA3497501 rs776500440 |
791 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA361657649 rs1581281328 |
791 | C>W | No |
ClinGen Ensembl |
|
|
CA361657654 rs1183368129 |
792 | S>C | No |
ClinGen TOPMed |
|
|
CA128950147 rs867448350 |
793 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs761853191 CA3497502 |
793 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA361657680 rs1184035899 |
796 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3497503 rs765335278 |
796 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3497504 rs750298327 |
797 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757976225 CA361657697 |
799 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581281465 CA361657694 |
799 | T>P | No |
ClinGen Ensembl |
|
|
rs757976225 CA3497505 |
799 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361657700 rs1581281495 |
800 | S>G | No |
ClinGen Ensembl |
|
|
CA361657708 rs1420560600 |
801 | R>* | No |
ClinGen gnomAD |
|
|
CA361657707 rs1420560600 |
801 | R>G | No |
ClinGen gnomAD |
|
|
rs751618541 CA3497506 |
801 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361657716 rs1175740640 |
802 | A>V | No |
ClinGen gnomAD |
|
|
rs1161148986 CA361657718 |
803 | C>R | No |
ClinGen gnomAD |
|
|
CA3497507 rs751259675 |
803 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1410072101 CA361657746 |
807 | G>C | No |
ClinGen gnomAD |
|
|
rs781553439 CA3497509 |
810 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs540705586 CA128950186 |
811 | T>M | No |
ClinGen TOPMed |
|
|
rs756464485 CA3497511 |
812 | R>K | No |
ClinGen ExAC |
|
|
CA361657789 rs1265118465 |
814 | A>D | No |
ClinGen gnomAD |
|
|
CA3497512 rs201680339 |
814 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3497513 rs201680339 |
814 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361657793 rs1340265400 |
815 | F>L | No |
ClinGen gnomAD |
|
|
CA3497514 rs140461802 |
815 | F>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1561540236 CA361657795 |
815 | F>Y | No |
ClinGen Ensembl |
|
|
rs774255094 CA3497515 |
816 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs201515515 CA3497516 |
818 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs4613695 CA128950230 |
818 | R>K | No |
ClinGen Ensembl |
|
|
CA361657817 rs1260203320 |
819 | T>A | No |
ClinGen gnomAD |
|
|
CA3497518 COSM3661588 rs150399370 |
822 | Q>R | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769690867 CA128950247 CA3497520 |
823 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 823 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361657847 rs1368234809 |
824 | G>E | No |
ClinGen gnomAD |
|
|
rs762759601 CA361657845 |
824 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368234809 CA361657849 |
824 | G>V | No |
ClinGen gnomAD |
|
|
CA3497522 rs762759601 |
824 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 825 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368254315 CA361657861 |
826 | S>L | No |
ClinGen TOPMed |
|
|
CA361657874 rs985785678 |
829 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA128950258 rs985785678 |
829 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1394096380 CA361657880 |
830 | H>D | No |
ClinGen gnomAD |
|
|
rs1311678353 CA361657884 |
830 | H>L | No |
ClinGen gnomAD |
|
|
CA361657883 rs1311678353 |
830 | H>R | No |
ClinGen gnomAD |
|
|
CA3497524 rs750979508 |
831 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA361657898 rs1581282046 |
832 | E>G | No |
ClinGen Ensembl |
|
|
CA361657915 rs1268623868 |
835 | N>D | No |
ClinGen gnomAD |
|
|
rs759036877 CA3497526 |
836 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA361657950 rs780553821 |
837 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA128950286 rs780553821 |
837 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA128950293 rs936457158 |
838 | G>S | No |
ClinGen TOPMed |
|
|
rs1181537384 CA361657974 |
839 | S>P | No |
ClinGen TOPMed |
|
|
rs1052548354 CA361657999 |
841 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA128950296 rs1052548354 |
841 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756515762 CA3497529 |
843 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756515762 CA361658030 |
843 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777947285 CA3497530 |
844 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA361658041 rs1387910275 |
844 | E>G | No |
ClinGen gnomAD |
|
|
rs754399218 CA3497531 |
846 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361658079 rs1396830356 |
847 | R>G | No |
ClinGen gnomAD |
|
|
CA3497533 rs200535006 |
847 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3497532 rs200535006 |
847 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3497534 rs200535006 |
847 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361658081 rs1396830356 |
847 | R>W | No |
ClinGen gnomAD |
|
|
CA361658117 rs1385475308 |
849 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1385475308 CA361658114 |
849 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3497536 rs780473548 |
850 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA361658135 rs1318832961 |
851 | Q>* | No |
ClinGen gnomAD |
|
|
rs1364680513 CA361658155 |
852 | P>S | No |
ClinGen gnomAD |
|
|
rs200692647 CA3497537 |
854 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3497540 rs138241889 |
857 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3497539 rs138241889 |
857 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770834395 CA3497541 |
860 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 861 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361658356 rs1224018212 |
864 | P>S | No |
ClinGen gnomAD |
|
|
rs1245846325 CA361658368 |
865 | R>Q | No |
ClinGen gnomAD |
|
|
rs774343852 CA3497543 |
865 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361658389 rs1349133816 |
867 | P>S | No |
ClinGen TOPMed |
|
|
CA128950355 rs530698536 |
871 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs372136290 CA3497545 |
871 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1175336126 CA361658510 |
879 | L>P | No |
ClinGen gnomAD |
|
|
rs1314653378 CA361658515 |
880 | L>R | No |
ClinGen gnomAD |
|
|
CA361658516 rs1364280246 |
881 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3497548 rs764524362 |
882 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497562 rs774318968 |
886 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs771598329 CA3497564 |
887 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361659117 rs1581297205 |
888 | K>N | No |
ClinGen Ensembl |
|
|
CA3497567 rs763710454 |
892 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3497573 rs766584164 |
895 | M>T | No |
ClinGen ExAC |
|
|
CA361659236 rs1411925840 |
897 | R>Q | No |
ClinGen gnomAD |
|
|
rs1423398003 CA361659256 |
898 | K>N | No |
ClinGen gnomAD |
|
|
rs777442483 CA128952915 |
899 | R>Q | No |
ClinGen Ensembl |
|
|
CA361659328 rs1427880094 |
904 | S>P | No |
ClinGen gnomAD |
|
|
rs1014349605 CA128952928 |
904 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1280975122 CA361659442 |
912 | I>T | No |
ClinGen gnomAD |
|
|
rs1376521591 CA361659447 |
913 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 918 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128952969 rs770653977 |
918 | Q>E | No |
ClinGen Ensembl |
|
|
CA361659531 rs1181480396 |
919 | V>A | No |
ClinGen gnomAD |
|
|
rs752084209 CA3497594 |
921 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361659546 rs752084209 |
921 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128953163 rs886579806 |
923 | K>Q | No |
ClinGen Ensembl |
|
|
rs1240623741 CA361659606 |
925 | K>R | No |
ClinGen TOPMed |
|
|
CA128953165 rs745799695 |
928 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 930 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497598 rs377018076 |
932 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752889978 CA3497597 |
932 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3497599 rs778693284 |
933 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1250163654 CA361659719 |
934 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA361659768 rs1253777904 |
937 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 939 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144849921 CA3497601 |
946 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1064040 rs1162761351 CA361659897 |
947 | K>E | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 947 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361659970 rs1401680985 |
951 | I>V | No |
ClinGen gnomAD |
|
|
rs1290122020 CA361660292 |
957 | R>K | No |
ClinGen gnomAD |
|
|
CA361660336 rs1347351409 |
964 | V>I | No |
ClinGen TOPMed |
|
|
rs1347351409 CA361660337 |
964 | V>L | No |
ClinGen TOPMed |
|
|
CA3497627 rs780978880 |
966 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 972 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769401946 CA361660388 |
972 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770314457 CA3497630 |
972 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs977679059 CA128955567 |
975 | Y>C | No |
ClinGen Ensembl |
|
|
CA361660424 rs1275569996 |
977 | Q>R | No |
ClinGen gnomAD |
|
|
rs367636419 CA128955576 |
981 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3497631 rs775929731 |
983 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368703936 CA361660472 |
984 | D>N | No |
ClinGen gnomAD |
|
|
rs771450643 CA3497632 |
985 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361660493 rs1389462512 |
987 | L>I | No |
ClinGen gnomAD |
|
|
rs1294095479 CA361660499 |
988 | D>H | No |
ClinGen TOPMed |
|
|
CA361660543 rs1432371073 |
994 | P>A | No |
ClinGen Ensembl |
|
|
COSM1064041 rs1399618526 CA361660554 |
996 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 997 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361660573 rs1293617168 |
998 | N>S | No |
ClinGen gnomAD |
|
|
CA3497638 rs764135152 COSM590660 |
999 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764135152 CA361660579 |
999 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA361660582 rs1581309343 |
1000 | I>F | No |
ClinGen Ensembl |
|
|
rs754091880 CA3497639 |
1001 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273134578 CA361660610 |
1004 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754728708 CA3497643 |
1007 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361660657 rs1464377474 |
1009 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1009 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361660668 rs1389669161 |
1011 | T>P | No |
ClinGen gnomAD |
|
|
rs761869884 CA3497661 |
1013 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361660728 rs1337908030 |
1020 | S>G | No |
ClinGen gnomAD |
|
|
CA3497662 rs765563809 |
1020 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1387391643 CA361660742 |
1022 | P>T | No |
ClinGen gnomAD |
|
|
CA361660751 rs1304087067 COSM482315 |
1023 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA361660757 rs538173930 |
1024 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3497664 rs538173930 |
1024 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3497665 rs767172791 |
1025 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1227921932 CA361660775 |
1027 | I>V | No |
ClinGen gnomAD |
|
|
CA3497668 rs763706025 |
1030 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3497669 rs753453408 |
1031 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1037 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373875135 CA128956199 |
1040 | R>Q | No |
ClinGen ESP TOPMed |
|
|
rs1486690632 CA361660868 |
1040 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778665975 CA3497671 |
1046 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs145142109 CA128956215 |
1046 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs1208732580 CA361660915 |
1047 | S>I | No |
ClinGen gnomAD |
|
|
rs745486539 CA3497672 |
1051 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs926994526 CA128956221 |
1052 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3497673 rs758812899 |
1052 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497674 rs555917890 |
1053 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361660977 rs1295302813 |
1056 | N>S | No |
ClinGen gnomAD |
|
|
rs1348836349 CA361661019 |
1060 | I>S | No |
ClinGen TOPMed |
|
|
rs950240763 CA128956441 |
1060 | I>V | No |
ClinGen Ensembl |
|
|
rs1408402817 CA361661033 |
1062 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1064 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497686 rs753794111 |
1069 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs904657927 CA128956446 |
1070 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM1064042 rs761433013 CA3497687 |
1070 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1044917671 CA128956453 |
1071 | S>I | No |
ClinGen gnomAD |
|
|
rs1044917671 CA361661093 |
1071 | S>N | No |
ClinGen gnomAD |
|
|
rs1319448078 CA361661097 |
1072 | E>K | No |
ClinGen gnomAD |
|
|
rs1581313660 CA361661111 |
1073 | E>D | No |
ClinGen Ensembl |
|
|
CA3497688 rs764602730 |
1076 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128956459 rs764602730 |
1076 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3497689 rs750121740 |
1078 | Y>C | No |
ClinGen ExAC |
|
|
CA3497691 rs757930681 |
1079 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049321456 CA128956492 |
1089 | T>A | No |
ClinGen Ensembl |
|
|
CA3497693 rs755305676 |
1089 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3497722 rs771100934 |
1092 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361661252 rs771100934 |
1092 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1192505998 CA361661259 |
1094 | V>M | No |
ClinGen gnomAD |
|
|
rs1561550343 CA361661273 |
1096 | G>R | No |
ClinGen Ensembl |
|
|
rs776502136 CA3497726 |
1109 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361661368 rs1159494150 |
1109 | R>S | No |
ClinGen gnomAD |
|
|
rs1281894703 CA361661377 |
1111 | L>* | No |
ClinGen TOPMed |
|
|
rs761655990 CA3497727 |
1112 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361661383 rs372096691 |
1112 | R>P | No |
ClinGen ESP gnomAD |
|
|
rs372096691 CA128956793 |
1112 | R>Q | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 1116 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3497730 rs140529583 |
1120 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149713669 CA361661443 |
1121 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399643647 CA361661452 |
1123 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361661489 rs1034060675 |
1127 | D>E | No |
ClinGen gnomAD |
|
|
rs1415387050 CA361661505 |
1129 | E>D | No |
ClinGen TOPMed |
|
|
rs747935774 CA3497745 |
1130 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA361661522 rs1203605915 |
1130 | S>R | No |
ClinGen TOPMed |
|
|
CA3497747 rs767493732 |
1132 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA128957166 rs943024331 |
1132 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749185535 CA3497748 |
1134 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA361661543 rs749185535 |
1134 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773796208 CA3497750 |
1140 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1142 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759030587 CA128957181 |
1145 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897532301 CA128957186 |
1145 | I>T | No |
ClinGen Ensembl |
|
|
CA3497751 rs759030587 |
1145 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128957193 rs866576649 |
1147 | M>I | No |
ClinGen Ensembl |
|
|
rs1335136809 CA361661633 |
1148 | E>K | No |
ClinGen gnomAD |
|
|
rs1335136809 CA361661634 |
1148 | E>Q | No |
ClinGen gnomAD |
|
|
CA361661657 rs1342436555 |
1151 | G>E | No |
ClinGen gnomAD |
|
|
CA3497753 rs775175145 |
1152 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs760991797 CA3497754 |
1156 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1273071907 COSM1206834 CA361661705 |
1158 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA128957201 rs901580636 |
1160 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1161 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953691405 CA128957230 |
1165 | F>Y | No |
ClinGen Ensembl |
|
|
rs1581317093 CA361661766 |
1167 | R>* | No |
ClinGen Ensembl |
|
|
CA3497757 rs757772451 |
1167 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1032193147 CA128957236 |
1169 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1173 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780190628 CA3497761 |
1179 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1461313297 CA361661868 |
1182 | P>S | No |
ClinGen gnomAD |
|
|
rs1404625043 CA361661902 |
1187 | Y>H | No |
ClinGen gnomAD |
|
|
CA3497764 rs777560980 |
1188 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1240551253 | 1189 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q6PIJ6
[MIM: 615575]: Neuronopathy, distal hereditary motor, 2D (HMN2D)
A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal. {ECO:0000269|PubMed:24207122}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal. {ECO:0000269|PubMed:24207122}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q6PIJ6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | F-box domain | 32 - 64 | IPR001810 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| SCF ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1). |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of T cell mediated immune response to tumor cell | Any process that activates or increases the frequency, rate, or extent of a T cell mediated immune response to tumor cell. |
| protein K48-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation. |
| SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BMI0 | Fbxo38 | F-box only protein 38 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGPRKKSVKT | CIMNNEIPEE | MTADETKDYM | NQLSHEVLCH | IFRYLPLQDI | MCMECLSRKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KEAVTLYLRV | VRVVDLCAGR | WWEYMPSGFT | DASFLTLLKK | MPDVEQLYGL | HPRYLERRRV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RGHEAFSIPG | VLEALQACPN | LVGVETSHLE | LVESIWTYMP | HVHILGKFRN | RNGAFPIPPE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NKLKIPIGAK | IQTLHLVGVN | VPEIPCIPML | RHLYMKWVRL | TKPQPFKDFL | CISLRTFVMR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NCAGPTNSLK | YVPLVTGLAS | ARNLEHLEMV | RVPFLGGLIQ | HVVEDSWRSG | GFRNLHTIVL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GACKNALEVD | LGYLIITAAR | RLHEVRIQPS | LTKDGVFSAL | KMAELEFPQF | ETLHLGYVDE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FLLQSRMANA | DLVKYGLADV | VENPGIITDI | GMKAVNEVFS | CIKYLAIYNC | PHLHNPYNWI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SDHSRWTRLV | DINLVRCHAL | KLDSFGQFIE | LLPSLEFISL | DQMFREPPKG | CARVGLSAGT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GIGVSSALVS | NQNSNNDDNN | AQNNNANIHD | NNHHHPDDSD | EENDFRQDLQ | PGEQQFAADA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LNEMEDIVQE | DGEVVAESGN | NTPAHSQAII | PVDVDEEQAG | PSGLQRVVKP | TSITVHDSES |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DDEEDSLELQ | EVWIPKNGTR | RYSEREEKTG | ESVQSRELSV | SGKGKTPLRK | RYNSHQMGQS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KQFPLEESSC | EKGCQVTSEQ | IKADMKAARD | IPEKKKNKDV | YPSCSSTTAS | TVGNSSSHNT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ASQSPDFVRT | VNSGGSSEPS | PTEVDVSRQC | ACSPGGSEDS | EAMEEGDAES | SVCPRCCCHR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PQESQRRTSR | CSDEERPSTS | RACVVNGPDG | TRSAFSFRTL | PQGGSSGPAH | DERTNGSGSG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ATGEDRRGSS | QPESCDVQSN | EDYPRRPLTR | ARSRLSHVLL | VSESEVAKTK | PRHAMKRKRT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ADKSTSTSDP | VIEDDHVQVL | VLKSKNLVGV | TMTNCGITDL | VLKDCPKMMF | IHATRCRVLK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HLKVENAPIV | NRFDYAQCKK | LNMDQVLDQI | LRMPPERNRI | IYLRPMQQVD | TLTLEQKLFS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GPYPYHICII | HEFSNPPNVR | NKVRIRSWMD | TIANINQELI | KYEFFPEATR | SEEDLKKYPK |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| YPWGREIYTL | EGVVDGAPYS | MISDFPWLRS | LRAAEPNSFA | RYDFEDDEES | TIYAPRRKGQ |
| 1150 | 1160 | 1170 | 1180 | ||
| LSADICMETI | GEEISEMRQM | KKGVFQRVVA | IFIHYCDVNG | EPVEDDYI |