Q96MC2
PR
Gene name |
DRC1 (C2orf39, CCDC164) |
Protein name |
Dynein regulatory complex protein 1 |
Names |
Coiled-coil domain-containing protein 164 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:92749 |
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 Q96MC2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | 1 | 1-740 | PDB |
| AF-Q96MC2-F1 | Predicted | AlphaFoldDB |
686 variants for Q96MC2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs759091863 RCV000794455 CA1561716 |
3 | P>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000796966 rs767420758 CA1561717 |
5 | G>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000692831 CA1561720 rs146049908 RCV002532224 |
9 | A>V | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001056030 CA1561722 rs757114521 |
13 | N>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1561732 RCV001341706 rs770464153 |
24 | A>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002523306 RCV000462074 CA1561733 rs778586998 |
25 | P>R | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346125990 RCV000797634 rs745542616 |
26 | S>W | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1678261374 RCV001067787 |
36 | I>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001784453 rs750136163 RCV000821948 RCV003147557 |
37 | Q>missing | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324276 rs778388067 |
39 | R>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779282480 CA1561751 RCV001232229 COSM3695427 |
45 | A>V | Primary ciliary dyskinesia large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001342295 rs745457802 CA346126627 |
46 | R>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001230023 rs771727269 |
49 | A>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003114598 RCV000468648 rs74936036 RCV001672787 CA1561790 |
58 | Y>H | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1561798 RCV000556942 RCV002525277 rs149398412 |
72 | S>T | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001209791 CA1561800 rs776739782 |
74 | K>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_087935 | 80 | R>del | SPGF80 [UniProt] | Yes | UniProt |
|
rs759868480 CA1561826 RCV000463299 |
105 | E>K | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001230479 rs1663137062 |
107 | H>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000725468 RCV000825030 RCV000049261 RCV002254519 rs142371860 RCV000549203 CA214697 |
118 | Q>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087936 | 118 | Q>del | CILD21 [UniProt] | Yes | UniProt |
|
RCV000629357 CA346098844 rs1199545365 |
127 | V>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs770549722 RCV000697355 CA1561849 |
132 | D>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346098994 RCV001344190 rs1333711600 |
137 | I>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs201245045 RCV001070347 CA1561855 |
140 | K>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs139583194 CA1561856 RCV002496755 RCV000471557 |
141 | W>G | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs574881831 RCV000629437 CA1561865 |
155 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA915943784 rs1572363707 RCV000813034 |
165 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1561915 rs141540461 RCV000685007 |
206 | R>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1160786100 CA346102042 RCV000559590 |
206 | R>W | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1561922 rs577516330 RCV000537888 |
219 | R>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1663384249 RCV001229716 |
225 | I>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1561991 rs756180718 RCV001218179 COSM184134 |
233 | R>C | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1663414723 RCV001071305 |
238 | A>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166763 rs138374268 RCV001308823 CA1562002 |
250 | A>V | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000802715 rs748399379 CA1562039 |
262 | R>C | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000466386 rs139352961 CA1562087 |
303 | Q>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346106474 rs1395219877 RCV001306583 |
309 | Y>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs747446719 RCV000819260 CA1562093 |
321 | Q>H | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000457472 CA16610752 rs1060501406 |
329 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001731699 RCV000475475 rs143181834 CA1562102 RCV002489104 |
331 | T>I | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1572379809 RCV000806433 CA915943785 |
356 | A>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1562129 rs78892546 RCV000465105 RCV001662437 RCV002506148 |
356 | A>V | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562130 RCV001662402 RCV001523619 RCV000454516 RCV001618690 rs3795958 VAR_030625 |
357 | K>E | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs970137380 CA44399363 RCV000816737 |
361 | Q>P | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs35094910 CA1562134 RCV000525299 |
365 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000540298 CA1562137 rs368859380 |
371 | S>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002541822 rs145305515 CA1562142 RCV001294382 |
375 | R>C | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141347582 CA1562143 RCV002501206 RCV000861996 |
375 | R>H | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148372110 RCV000555049 CA1562165 |
391 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000472147 rs774466512 CA1562166 |
396 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346109944 RCV001636830 CA1562168 RCV001660361 rs939820 RCV001523620 VAR_030626 RCV000243978 |
399 | W>R | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
CA1562174 rs551640350 RCV000795223 |
413 | I>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000814460 CA1562178 rs202052258 |
416 | A>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs779720693 RCV001048078 CA1562177 |
416 | A>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087937 | 432 | W>del | CILD21; multiple flagellar abnormalities are present in patient sperm [UniProt] | Yes | UniProt |
|
CA1562194 RCV000529069 rs747835380 |
435 | P>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1663812465 RCV001038488 |
442 | N>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1562204 RCV000794843 rs780100027 |
453 | S>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000539228 CA1562213 rs377330459 |
464 | R>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001531483 RCV000554269 CA1562249 rs149007147 |
467 | E>Q | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562254 RCV001230478 rs199574440 |
473 | A>D | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199574440 RCV000520029 RCV002526404 CA1562253 RCV002496756 RCV000469764 |
473 | A>V | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1562256 rs145706376 RCV000820922 |
474 | A>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562258 rs200155316 RCV000697087 |
475 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3391653 rs149334724 CA1562264 RCV000813655 |
484 | P>L | Primary ciliary dyskinesia pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562271 RCV000229948 rs143980408 RCV001534575 |
498 | L>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001474071 RCV002538957 CA1562303 rs188055173 |
507 | I>L | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA346115365 RCV000795255 rs753664425 |
508 | E>D | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001770403 CA1562311 RCV000532548 rs145400360 |
527 | R>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562346 RCV000464331 rs760087399 |
541 | D>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1562348 rs775900881 RCV000457795 |
544 | Y>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371052653 CA1562351 RCV001206332 COSM274271 |
549 | F>L | Primary ciliary dyskinesia large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087938 | 554 | R>del | SPGF80; no protein detected in a homozygous patient sperm [UniProt] | Yes | UniProt |
|
rs1663980286 RCV001229730 |
560 | S>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855222 RCV000227637 |
574 | K>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149284367 RCV001501692 CA1562389 |
575 | A>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147712523 CA1562396 RCV002528299 RCV000553201 |
584 | S>T | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562399 rs144885892 RCV002570349 RCV001246812 |
592 | T>M | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1664059066 RCV001319073 |
601 | S>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1402962 RCV000455894 RCV001523621 |
608 | E>= | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1664060049 RCV001034902 |
609 | E>K | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372284377 RCV000820465 CA1562411 |
614 | P>A | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210920 rs1664060879 |
614 | P>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1562420 RCV000476429 rs573043964 |
623 | N>S | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs751715818 RCV001209809 CA1562422 |
631 | A>V | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_030627 RCV001516751 RCV000454632 RCV001683487 CA1562426 rs12623642 |
633 | V>F | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562427 rs12623642 RCV001296232 |
633 | V>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1297970541 RCV001067097 CA346120893 |
634 | M>V | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs142671417 RCV000765659 RCV002525276 RCV000531790 CA1562428 |
638 | K>T | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562460 rs752777750 RCV001040171 |
652 | V>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1562461 RCV000868353 rs139106371 |
653 | R>C | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140913454 CA1562464 RCV001480806 |
658 | D>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001336981 rs772974990 |
659 | S>missing | Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs79027679 CA1562466 RCV000229282 |
659 | S>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473667 rs202097155 CA1562473 |
674 | Q>L | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1562475 RCV000686196 rs765669218 |
677 | W>R | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA214694 rs587776997 RCV000049260 |
686 | K>* | Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208338 rs587776997 |
686 | K>E | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_087939 | 686 | K>del | CILD21 [UniProt] | Yes | UniProt |
|
rs1553345147 CA346123025 RCV000546527 |
690 | V>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1562511 RCV000629310 rs201260214 RCV003117438 |
692 | T>S | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1558457993 RCV001219323 RCV002491682 |
694 | R>missing | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629440 CA1562513 RCV002528834 rs372797665 |
694 | R>T | Primary ciliary dyskinesia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346123146 rs1347088566 RCV001209980 |
700 | E>G | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs767091604 CA1562524 RCV001062501 |
709 | T>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs763706980 RCV001945434 CA1562527 |
712 | Q>* | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000824224 rs1572389551 CA346123265 |
714 | L>I | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1562537 rs115095929 RCV001672788 RCV000475548 |
716 | Q>P | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763631774 RCV000660415 RCV002289918 RCV000629406 |
732 | T>missing | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456966 RCV001540832 VAR_057758 CA1562580 rs35313480 RCV000455058 |
734 | V>M | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761603781 CA1562584 RCV000545747 |
736 | R>Q | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs373441736 RCV001236126 CA1562583 |
736 | R>W | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs151184011 RCV002476083 RCV000560372 CA1562587 CA346124110 |
741 | K>C | Primary ciliary dyskinesia Primary ciliary dyskinesia 21 [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1181315921 CA346125295 |
8 | E>Q | No |
ClinGen TOPMed |
|
|
CA44372922 rs974921484 |
11 | D>N | No |
ClinGen Ensembl |
|
|
CA346125434 rs1269863410 |
12 | P>T | No |
ClinGen gnomAD |
|
|
CA44372946 rs912234326 |
14 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751667577 CA1561724 |
15 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 15 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1561723 rs766663486 |
15 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA346125575 rs766663486 |
15 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1561726 rs149082901 COSM1306646 |
16 | E>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149082901 CA1561725 |
16 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346125762 rs753185786 |
19 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1561727 rs753185786 |
19 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346125789 rs1431237730 |
20 | T>P | No |
ClinGen Ensembl |
|
|
CA1561729 rs777988554 |
20 | T>S | No |
ClinGen ExAC |
|
|
CA1561734 rs745542616 |
26 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA346126032 rs771532771 |
28 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1561735 rs771532771 |
28 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1561736 rs771532771 |
28 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1044253385 CA44373073 |
30 | D>H | No |
ClinGen TOPMed |
|
|
CA346126148 rs1044253385 |
30 | D>N | No |
ClinGen TOPMed |
|
|
rs761717052 CA1561740 |
30 | D>V | No |
ClinGen ExAC |
|
|
rs751788344 CA1561742 |
32 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1561743 rs759839294 |
32 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA346126296 rs751788344 |
32 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM574520 CA346126324 rs1381234367 |
33 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1561744 rs200121746 |
33 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1036143521 CA44373120 |
34 | E>* | No |
ClinGen Ensembl |
|
|
rs752882510 CA1561745 |
35 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316338797 CA346126363 |
35 | R>S | No |
ClinGen gnomAD |
|
|
CA1561746 rs756578362 |
36 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1177526910 CA346126460 |
38 | A>S | No |
ClinGen TOPMed |
|
|
rs1261893984 CA346126468 |
39 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs778388067 CA1561748 |
39 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546435289 CA1561749 |
41 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346126512 rs1237955253 |
42 | R>G | No |
ClinGen gnomAD |
|
|
rs1237955253 CA346126507 |
42 | R>S | No |
ClinGen gnomAD |
|
|
CA346126521 rs1474989280 |
43 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346126535 rs1184511254 |
43 | I>T | No |
ClinGen gnomAD |
|
|
rs1421957140 CA346126563 |
44 | A>V | No |
ClinGen gnomAD |
|
|
rs779282480 CA44373158 |
45 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1561752 rs745457802 |
46 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44373178 rs1004827874 |
48 | E>Q | No |
ClinGen Ensembl |
|
|
CA1561753 rs771727269 |
49 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746567648 COSM1246794 CA1561755 |
50 | R>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1307292452 CA346126708 |
50 | R>L | No |
ClinGen TOPMed |
|
|
rs776582144 CA1561757 |
51 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA346126728 rs1572346150 |
51 | R>S | No |
ClinGen Ensembl |
|
|
CA346126738 rs1341994586 |
52 | R>P | No |
ClinGen gnomAD |
|
|
rs758712081 CA1561787 |
53 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1363336985 CA346096373 |
54 | A>G | No |
ClinGen gnomAD |
|
|
rs766685437 CA1561788 |
55 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1323795730 CA346096385 |
55 | L>H | No |
ClinGen gnomAD |
|
|
rs751153142 CA1561789 |
56 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1311428069 CA346096408 |
57 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780737842 CA346096438 |
58 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs747725311 CA1561792 |
59 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1198694 rs927792575 CA44389108 |
60 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA346096496 rs1265169446 |
63 | K>E | No |
ClinGen TOPMed |
|
|
CA1561793 rs138917435 |
64 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250075677 CA346096525 |
65 | S>I | No |
ClinGen gnomAD |
|
|
CA44389109 rs993323990 |
66 | E>G | No |
ClinGen TOPMed |
|
|
CA346096570 rs1239352151 |
67 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs913197111 CA44389113 |
68 | D>N | No |
ClinGen TOPMed |
|
|
CA44389118 rs954067039 |
69 | Q>H | No |
ClinGen TOPMed |
|
|
CA1561797 rs774021923 |
69 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1561799 rs768821116 |
73 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs776739782 CA346096661 |
74 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761927115 CA1561801 |
74 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA44389133 rs201143906 |
76 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202080828 CA44389135 |
77 | E>K | No |
ClinGen Ensembl |
|
|
rs769881387 CA1561802 |
78 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201097702 CA1561803 |
79 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1561804 rs375961396 |
80 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44389146 rs148643291 |
80 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1561805 COSM3407779 rs148643291 |
80 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346097435 rs1292817885 |
82 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 84 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346097525 rs1240991158 |
89 | C>R | No |
ClinGen TOPMed |
|
|
CA1561816 rs745718864 |
90 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1561820 rs769795298 |
92 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748397280 CA1561819 |
92 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324924536 CA346097610 |
95 | T>K | No |
ClinGen gnomAD |
|
|
CA346097651 rs1220756839 |
98 | Q>* | No |
ClinGen gnomAD |
|
|
rs771406695 CA1561823 |
101 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774744171 CA1561824 |
103 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767947875 CA1561827 |
105 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759868480 CA44391161 |
105 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760409243 CA1561829 |
107 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44391178 rs138488150 |
108 | R>G | No |
ClinGen ESP |
|
|
CA1561830 rs763644509 |
109 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA1561831 rs753459451 |
109 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1561833 rs371616390 |
111 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750393829 CA1561835 |
115 | I>L | No |
ClinGen ExAC |
|
|
CA346097978 rs1558439730 |
115 | I>M | No |
ClinGen Ensembl |
|
|
CA346097972 rs1324007348 |
115 | I>T | No |
ClinGen gnomAD |
|
|
rs758085776 CA1561836 |
117 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200567817 CA1561837 |
117 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44391202 rs142371860 |
118 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561605921 CA1561838 |
119 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 119 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032568630 CA44392014 |
120 | I>F | No |
ClinGen Ensembl |
|
|
rs1378377620 CA346098775 |
123 | L>V | No |
ClinGen gnomAD |
|
|
CA1561848 rs776252565 |
125 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA346098853 rs1348998638 |
128 | K>E | No |
ClinGen TOPMed |
|
|
rs1182089787 CA346098878 |
129 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1226709312 CA346098882 |
130 | S>R | No |
ClinGen TOPMed |
|
|
rs764831596 CA1561850 |
133 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346098958 rs200560247 |
134 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346098964 rs1174515985 |
135 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346098988 rs1377322973 |
136 | E>V | No |
ClinGen gnomAD |
|
|
rs758366261 CA1561852 |
138 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201245045 CA1561854 |
140 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346099050 rs1447505362 COSM1690280 |
141 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 144 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241367861 CA346099086 |
144 | G>V | No |
ClinGen gnomAD |
|
|
CA346099112 rs1300027016 |
146 | Q>R | No |
ClinGen gnomAD |
|
|
CA346099129 rs1394436171 |
147 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1561859 rs370204252 |
149 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1561858 rs757246145 |
149 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1561861 rs746302954 |
150 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235275928 CA346099211 |
151 | Q>H | No |
ClinGen TOPMed |
|
|
rs1159044068 CA346099201 |
151 | Q>R | No |
ClinGen gnomAD |
|
|
rs1186275301 CA346099228 |
152 | E>G | No |
ClinGen TOPMed |
|
|
CA1561864 rs775996518 |
153 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1167224672 CA346099259 |
154 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs542270831 CA1561868 |
157 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1561867 rs542270831 |
157 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1561869 rs368096684 |
159 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346099398 rs1314958264 |
160 | Q>H | No |
ClinGen gnomAD |
|
|
CA1561871 rs762794275 |
160 | Q>P | No |
ClinGen ExAC |
|
|
CA346099433 rs1307375937 |
162 | L>P | No |
ClinGen gnomAD |
|
|
CA1561872 rs766342967 |
163 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs751330750 CA1561873 |
164 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754721769 CA346099473 |
165 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754721769 CA1561874 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203209148 CA346099486 |
166 | G>E | No |
ClinGen gnomAD |
|
|
rs1225170060 CA346099492 |
167 | L>F | No |
ClinGen gnomAD |
|
|
rs1306411103 CA346099566 |
170 | D>G | No |
ClinGen TOPMed |
|
|
rs746031197 CA1561882 |
171 | K>* | No |
ClinGen ExAC |
|
|
rs758946277 CA1561883 |
171 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1561884 rs200486076 |
172 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1561885 rs747547999 |
173 | K>I | No |
ClinGen ExAC |
|
|
CA346099640 rs1572363778 |
173 | K>N | No |
ClinGen Ensembl |
|
|
CA346099651 rs1414841501 |
174 | L>R | No |
ClinGen gnomAD |
|
|
CA346099670 rs1572363786 |
175 | I>T | No |
ClinGen Ensembl |
|
|
rs747739014 CA1561888 |
177 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1561905 rs781405031 |
185 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1561906 rs147573624 |
187 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777433897 CA1561908 |
188 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1561909 rs748971864 |
188 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279205170 CA346101769 |
189 | Y>C | No |
ClinGen gnomAD |
|
|
CA346101823 rs1446260930 |
191 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346101815 rs1446260930 |
191 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA44393236 rs958816137 |
192 | D>E | No |
ClinGen gnomAD |
|
|
CA346101915 rs1558443797 |
195 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 196 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770363645 CA1561910 |
198 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1409005878 CA346101971 |
200 | I>V | No |
ClinGen TOPMed |
|
|
CA1561913 rs772118441 |
204 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775120741 CA1561914 |
205 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA346102047 rs141540461 |
206 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1561916 rs763821318 |
207 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA44393248 rs917235815 |
211 | V>A | No |
ClinGen gnomAD |
|
|
rs1198583396 CA346102115 |
211 | V>M | No |
ClinGen TOPMed |
|
|
rs750603776 CA1561917 |
213 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs766549612 CA1561919 |
214 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1561920 rs751751770 |
215 | M>V | No |
ClinGen ExAC |
|
|
CA1561921 rs755509862 |
218 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs541474349 CA1561923 |
219 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541474349 CA346102229 |
219 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA44393262 rs919468185 |
223 | Y>* | No |
ClinGen Ensembl |
|
|
CA44393265 rs756459461 |
225 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756459461 CA1561925 |
225 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265502645 CA346102339 |
226 | E>A | No |
ClinGen gnomAD |
|
|
rs780851650 CA1561989 |
229 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs151165704 CA1561990 |
230 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA346102394 rs1379630011 |
231 | V>L | No |
ClinGen gnomAD |
|
|
CA1561992 rs760707903 |
233 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1561993 rs749079306 |
235 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772316882 CA1561995 |
239 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1177532071 CA346102453 |
240 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747289433 CA1561998 |
242 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA346102489 rs1180020242 |
243 | K>E | No |
ClinGen gnomAD |
|
|
COSM1198696 rs371220148 CA1561999 |
244 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1198696 CA346102506 rs1167164681 |
244 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1465141603 CA346102531 |
246 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs776709587 CA1562000 |
248 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1562001 rs776709587 |
248 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1562003 rs773601398 |
251 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562004 rs763177527 |
253 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1562005 rs187381592 |
253 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750255684 CA346102866 |
257 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562037 rs755166536 |
260 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs781340823 CA1562038 |
261 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs756078948 CA1562040 COSM1019354 |
262 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1327723004 CA346102902 |
263 | M>T | No |
ClinGen gnomAD |
|
|
CA346102948 rs1430795160 |
267 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs984590918 CA44393842 |
267 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1274208538 CA346102967 |
269 | Y>C | No |
ClinGen gnomAD |
|
|
rs777922006 CA1562041 |
270 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1220750027 CA346102994 |
271 | K>R | No |
ClinGen gnomAD |
|
|
rs749744077 CA1562042 |
274 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771535992 CA1562043 |
275 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs746285141 CA1562045 |
277 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA346103069 rs1198198817 |
277 | R>S | No |
ClinGen gnomAD |
|
|
CA44393851 rs989489316 |
279 | W>* | No |
ClinGen Ensembl |
|
|
rs376877060 CA1562046 |
280 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254449048 CA346103152 |
282 | E>K | No |
ClinGen TOPMed |
|
|
rs1380148768 CA346103213 |
284 | Y>H | No |
ClinGen gnomAD |
|
|
CA1562049 rs767997333 |
285 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 285 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776265505 CA1562050 |
285 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs201076910 CA44393861 |
286 | M>I | No |
ClinGen 1000Genomes |
|
|
CA346103257 rs1209586026 |
286 | M>V | No |
ClinGen gnomAD |
|
|
rs948289393 CA44393863 |
289 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs532829853 CA1562053 |
294 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370717886 CA1562084 |
300 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373874150 CA1562085 |
300 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1562086 rs764426254 |
301 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346106330 rs1422843402 |
303 | Q>* | No |
ClinGen gnomAD |
|
|
CA346106489 rs1332466119 |
310 | Q>R | No |
ClinGen gnomAD |
|
|
CA346106510 rs1357565595 |
311 | L>R | No |
ClinGen gnomAD |
|
|
rs750904470 CA1562090 |
317 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA346106756 rs1252381776 |
321 | Q>P | No |
ClinGen gnomAD |
|
|
rs768921026 CA1562094 |
322 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562095 rs575878889 |
326 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1562097 rs747757521 |
326 | R>S | No |
ClinGen ExAC |
|
|
CA1562098 rs184542712 |
328 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1562099 rs564871911 |
330 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1562101 rs770895002 |
331 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767248627 CA1562104 |
332 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs367682395 CA1562103 |
332 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346107185 rs1435637520 |
337 | Q>K | No |
ClinGen gnomAD |
|
|
rs1056456247 CA44398742 |
337 | Q>P | No |
ClinGen Ensembl |
|
|
rs552095505 CA1562105 |
338 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294813203 CA346107243 |
339 | R>S | No |
ClinGen TOPMed |
|
|
rs750160871 CA44398743 |
342 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761956789 CA1562106 |
343 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346107391 rs761956789 |
343 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562124 rs775210361 |
345 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562125 rs762125120 |
348 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1305277339 CA346108992 |
348 | L>V | No |
ClinGen gnomAD |
|
|
rs1248428067 CA346109159 |
354 | K>R | No |
ClinGen TOPMed |
|
|
CA1562128 rs763083128 |
356 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562131 rs755494118 |
357 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160095811 COSM574516 CA346109283 |
360 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA44399362 rs916455994 |
360 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs970137380 CA346109302 |
361 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs184506507 CA1562133 |
364 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755740597 CA1562135 |
367 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1426133918 CA346109454 |
368 | S>T | No |
ClinGen TOPMed |
|
|
CA1562136 rs777356236 |
370 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346109500 rs1572379904 |
372 | D>G | No |
ClinGen Ensembl |
|
|
rs778301620 CA1562139 |
372 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1562141 rs771972894 |
373 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs529070805 CA1562140 |
373 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346109544 rs145305515 |
375 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1562144 rs768598799 |
377 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA346109588 rs1178048254 |
379 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346109604 rs1292581034 |
380 | F>C | No |
ClinGen TOPMed |
|
|
rs1474285593 CA346109601 |
380 | F>L | No |
ClinGen gnomAD |
|
|
CA44399365 rs947681352 |
381 | K>E | No |
ClinGen TOPMed |
|
|
CA346109614 rs1167112319 |
382 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 388 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs944202551 CA44399398 |
389 | H>R | No |
ClinGen TOPMed |
|
|
rs544363279 CA1562164 |
389 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346109862 rs1345468144 |
392 | L>R | No |
ClinGen gnomAD |
|
|
CA346109849 COSM461048 rs1300407487 |
392 | L>V | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs914203633 CA44399400 |
393 | I>T | No |
ClinGen TOPMed |
|
|
CA346109871 rs1213344335 |
394 | D>N | No |
ClinGen gnomAD |
|
|
rs767635504 CA44399401 |
395 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA44399402 rs767635504 |
395 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346109905 rs374257901 |
396 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346109925 rs1244345499 |
397 | K>N | No |
ClinGen gnomAD |
|
|
rs1213642545 CA346109916 |
397 | K>R | No |
ClinGen gnomAD |
|
|
CA1562169 rs533192395 |
399 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs939820 CA346109942 |
399 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867756675 CA44399403 |
400 | E>K | No |
ClinGen Ensembl |
|
|
rs1393698498 CA346109990 |
402 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs368143695 CA1562170 |
404 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232098690 CA346110081 |
406 | E>G | No |
ClinGen TOPMed |
|
|
CA346110091 rs1182364971 |
407 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754270018 CA1562172 |
409 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346110174 rs1375636244 |
411 | D>N | No |
ClinGen gnomAD |
|
|
CA1562173 rs761498552 |
413 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs750117775 CA346110245 |
415 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs372089434 CA1562176 |
415 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202052258 CA1562179 |
416 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202052258 CA1562180 |
416 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1562181 rs377145755 |
417 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1304444647 CA346110340 |
418 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572380451 CA346110358 |
419 | V>A | No |
ClinGen Ensembl |
|
|
CA1562182 rs755958352 |
419 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1444990213 CA346110385 |
421 | R>G | No |
ClinGen TOPMed |
|
|
CA44399404 rs756149867 |
421 | R>K | No |
ClinGen Ensembl |
|
|
rs778963656 CA1562185 |
421 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369445461 CA1562186 |
422 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1562187 rs775606615 |
423 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1353239823 CA346110575 |
425 | T>I | No |
ClinGen Ensembl |
|
|
CA346110584 rs1558451805 |
426 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 427 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251622098 CA346110612 |
427 | H>R | No |
ClinGen gnomAD |
|
|
rs143613949 CA1562189 |
428 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143613949 CA1562190 |
428 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1562191 rs568154812 |
430 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1209086477 CA346110705 |
432 | W>L | No |
ClinGen gnomAD |
|
|
rs765634112 CA1562192 |
433 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs879002995 CA44399405 |
433 | A>V | No |
ClinGen Ensembl |
|
|
rs1156445457 CA346110771 |
434 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3720354 rs752929042 CA1562193 |
435 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA44399406 rs372762063 |
438 | W>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA346110980 rs1442847449 |
441 | N>K | No |
ClinGen gnomAD |
|
|
CA346111006 rs1284497827 |
443 | V>A | No |
ClinGen gnomAD |
|
|
rs754942711 CA1562197 |
445 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440342812 CA346111036 |
445 | P>L | No |
ClinGen gnomAD |
|
|
rs1440342812 CA346111038 |
445 | P>R | No |
ClinGen gnomAD |
|
|
rs150721188 CA1562200 |
446 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767513178 CA1562198 |
446 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA44399407 rs988823767 |
447 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346111091 rs1271834382 |
448 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777645007 CA1562201 |
449 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1198637129 CA346111108 |
449 | Q>P | No |
ClinGen TOPMed |
|
|
rs756473853 CA44399408 |
450 | P>L | No |
ClinGen Ensembl |
|
|
CA346111117 rs1214850546 |
450 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346111114 rs1214850546 |
450 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs996413737 CA44399409 |
451 | Q>L | No |
ClinGen Ensembl |
|
|
rs758656958 CA1562203 |
452 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs746053588 CA1562202 |
452 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1562206 rs202139054 COSM477230 |
454 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA44399410 rs954914386 |
455 | T>R | No |
ClinGen Ensembl |
|
|
rs777051751 CA346111173 |
456 | Q>* | No |
ClinGen ExAC |
|
|
rs777051751 CA1562208 |
456 | Q>K | No |
ClinGen ExAC |
|
|
CA346111189 rs1414998432 |
457 | I>L | No |
ClinGen gnomAD |
|
|
CA346111192 rs1463007620 |
457 | I>T | No |
ClinGen gnomAD |
|
|
rs372422691 CA1562209 |
458 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1562210 rs770036595 |
459 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1562211 rs773668912 |
460 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1572380700 CA346111225 |
460 | E>D | No |
ClinGen Ensembl |
|
|
rs749469404 CA44399411 |
462 | L>F | No |
ClinGen gnomAD |
|
|
CA346111251 rs1336512315 |
462 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 462 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 462 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762510672 CA1562212 |
463 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200271366 CA1562214 |
464 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 464 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs143812718 | 465 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251226783 CA346111295 |
465 | S>L | No |
ClinGen gnomAD |
|
|
rs964114870 CA44399841 |
468 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1562252 rs779468786 |
472 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868043903 CA44399842 |
474 | A>V | No |
ClinGen Ensembl |
|
|
CA1562257 COSM184139 rs372509418 |
475 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346113161 rs1446524858 |
476 | E>K | No |
ClinGen TOPMed |
|
|
rs1285192885 CA346113251 |
477 | P>R | No |
ClinGen TOPMed |
|
|
CA1562260 rs764990298 |
477 | P>S | No |
ClinGen ExAC |
|
|
CA1562262 rs750288484 |
478 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1207159845 CA346113406 |
481 | L>M | No |
ClinGen TOPMed |
|
|
CA346113428 rs1420959456 |
481 | L>Q | No |
ClinGen gnomAD |
|
|
rs1460399677 CA346113599 |
486 | Q>P | No |
ClinGen gnomAD |
|
|
CA346113678 rs1395739972 |
488 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346113878 rs1370644130 |
493 | K>E | No |
ClinGen gnomAD |
|
|
CA1562267 rs144606400 |
495 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1562268 rs144606400 |
495 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1562270 rs779414208 |
497 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs757878817 CA1562269 |
497 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1203469775 CA346114156 |
502 | E>K | No |
ClinGen gnomAD |
|
|
CA1562274 rs779688284 |
503 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249848525 CA346114215 |
503 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760947377 CA1562301 |
506 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA44399961 rs188055173 |
507 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346115363 rs1236758396 |
508 | E>G | No |
ClinGen gnomAD |
|
|
rs1214299263 CA346115427 |
509 | S>R | No |
ClinGen gnomAD |
|
|
rs1572384900 CA346115380 |
509 | S>R | No |
ClinGen Ensembl |
|
|
rs1286652463 CA346115636 |
515 | L>P | No |
ClinGen Ensembl |
|
|
rs765436993 CA1562305 |
517 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251505912 CA346115752 |
520 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1361358856 CA346115791 |
522 | E>G | No |
ClinGen TOPMed |
|
|
CA1562307 rs763415203 |
523 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572384951 CA346115850 |
524 | Y>C | No |
ClinGen Ensembl |
|
|
CA346115877 rs1558454805 |
525 | L>R | No |
ClinGen Ensembl |
|
|
rs201581530 CA1562312 |
529 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1173077226 CA346116003 |
530 | A>V | No |
ClinGen TOPMed |
|
|
CA346116024 rs1474315758 |
531 | I>V | No |
ClinGen TOPMed |
|
| rs377416255 | 533 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1562313 rs752379921 |
533 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352327903 CA346116314 |
535 | L>V | No |
ClinGen TOPMed |
|
|
rs749262489 CA1562343 |
539 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749262489 CA1562344 |
539 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447892584 CA346116454 |
540 | E>A | No |
ClinGen Ensembl |
|
|
rs201624281 CA1562347 |
542 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346116585 rs1163682047 |
543 | L>* | No |
ClinGen gnomAD |
|
|
rs1395499916 CA346116597 |
543 | L>F | No |
ClinGen gnomAD |
|
|
CA1562350 rs763595985 |
547 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs760306333 CA1562349 |
547 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346116751 rs1257446687 |
548 | N>I | No |
ClinGen TOPMed |
|
|
rs1314124310 CA346116768 |
549 | F>I | No |
ClinGen gnomAD |
|
|
CA44400013 rs927408361 |
554 | R>* | No |
ClinGen Ensembl |
|
|
CA346116984 rs374438636 |
554 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1562353 rs374438636 |
554 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346117008 rs750302181 |
556 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758445865 CA1562355 |
556 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750302181 CA1562354 |
556 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938724696 CA44400014 |
556 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs779986198 CA1562356 |
557 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1562357 rs746746916 |
557 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746746916 CA346117034 |
557 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44400015 rs148258928 |
559 | S>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA44400016 rs943679594 |
561 | S>T | No |
ClinGen TOPMed |
|
|
rs777820478 CA1562359 |
562 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057077092 CA44400017 |
563 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 565 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298667996 CA346118112 |
568 | S>N | No |
ClinGen gnomAD |
|
|
CA44400555 rs142635577 |
570 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142635577 CA1562386 |
570 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777089934 COSM3839215 CA1562388 |
572 | M>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs974129934 CA346118265 |
575 | A>S | No |
ClinGen TOPMed |
|
|
rs974129934 CA44400560 |
575 | A>T | No |
ClinGen TOPMed |
|
|
CA346118303 rs1286587237 |
577 | M>T | No |
ClinGen TOPMed |
|
|
rs964653441 CA44400564 |
577 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346118321 rs1467854643 |
578 | E>D | No |
ClinGen gnomAD |
|
|
rs773007219 CA1562391 |
580 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562392 rs762515156 |
581 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766012532 CA1562393 |
582 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346118373 rs1433869959 |
582 | T>P | No |
ClinGen gnomAD |
|
|
rs768927882 CA44400569 |
583 | R>K | No |
ClinGen Ensembl |
|
|
CA346119062 rs1428952911 |
583 | R>S | No |
ClinGen TOPMed |
|
|
rs147712523 CA346119074 |
584 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346119189 rs1291461722 |
588 | L>Q | No |
ClinGen gnomAD |
|
|
CA1562398 rs755874145 |
592 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748452142 CA44402580 |
593 | E>G | No |
ClinGen Ensembl |
|
|
CA346119470 rs758422784 CA1562401 |
596 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs531953189 CA1562402 |
596 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1562403 rs747479532 |
597 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44402615 rs747479532 |
597 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333888206 CA346119555 |
598 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769270156 CA1562404 COSM1690284 |
599 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1266969793 CA346119798 |
604 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1562405 rs540641492 |
605 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 606 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402962 CA346119981 CA346119985 |
608 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 608 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346120085 rs770534903 |
611 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1562409 rs529718509 |
611 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772954214 CA1562408 |
611 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA346120108 rs1361964562 |
612 | E>D | No |
ClinGen TOPMed |
|
|
rs1213459488 CA346120087 |
612 | E>K | No |
ClinGen TOPMed |
|
|
CA44402644 rs557830857 |
613 | T>N | No |
ClinGen gnomAD |
|
|
CA1562412 rs372284377 |
614 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297235690 CA346120255 |
615 | P>S | No |
ClinGen gnomAD |
|
|
CA346120293 rs377023666 |
616 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558456833 CA346120268 |
616 | S>T | No |
ClinGen Ensembl |
|
|
CA1562414 rs377023666 |
616 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226508678 CA346120367 |
618 | W>* | No |
ClinGen gnomAD |
|
|
CA1562417 rs760476460 |
618 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346120375 rs1226508678 COSM1531518 |
618 | W>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs781097632 | 618 | W>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346120398 rs1392056100 |
619 | V>D | No |
ClinGen TOPMed |
|
|
rs759261200 CA44402682 |
620 | I>M | No |
ClinGen Ensembl |
|
|
rs750621156 CA1562419 |
621 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA346120508 rs573043964 |
623 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346120551 rs933026039 CA44402685 |
624 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1562421 rs780099607 |
625 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346120728 rs1276097838 |
630 | E>K | No |
ClinGen TOPMed |
|
|
rs751715818 CA346120768 |
631 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346120950 rs1462900523 |
635 | G>C | No |
ClinGen TOPMed |
|
|
CA346121024 rs1360402475 |
639 | P>T | No |
ClinGen gnomAD |
|
|
CA346121070 rs1428226382 |
640 | R>K | No |
ClinGen gnomAD |
|
|
CA1562447 rs778586378 |
641 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs546870871 CA44403252 |
642 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745528363 CA1562448 |
642 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546870871 CA1562449 |
642 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44403248 rs745528363 |
642 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372262629 CA1562451 |
643 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249608628 CA346121508 |
643 | R>W | No |
ClinGen TOPMed |
|
|
CA346121531 rs1310552578 |
644 | A>D | No |
ClinGen gnomAD |
|
|
rs141143302 CA1562452 |
645 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346121538 rs1276162958 |
645 | P>S | No |
ClinGen TOPMed |
|
|
rs761559151 CA1562455 |
647 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs765041616 CA1562456 |
648 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 649 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 649 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346121679 rs1465586403 |
649 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1245730608 CA346121719 |
650 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1562458 rs759721104 |
650 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1664093779 RCV001311188 |
651 | N>D | No |
ClinVar dbSNP |
|
|
rs752777750 CA346121794 |
652 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767632188 CA1562459 |
652 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1562462 rs139106371 |
653 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472262198 CA346121810 |
653 | R>H | No |
ClinGen gnomAD |
|
|
CA346121863 rs1156837769 |
654 | D>G | No |
ClinGen gnomAD |
|
|
CA346121921 rs1165210279 |
656 | S>T | No |
ClinGen TOPMed |
|
|
rs1425394558 CA346121961 |
657 | K>R | No |
ClinGen TOPMed |
|
|
rs961808502 CA44403300 |
658 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346122052 rs1227109464 |
660 | E>G | No |
ClinGen gnomAD |
|
|
CA346122144 rs1330283511 |
662 | W>C | No |
ClinGen gnomAD |
|
|
CA346122149 rs1175945817 |
663 | Q>* | No |
ClinGen gnomAD |
|
|
CA346122219 rs1288143260 |
664 | A>G | No |
ClinGen gnomAD |
|
|
CA1562469 rs779598136 |
664 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA346122245 rs1371774438 |
666 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346122252 rs1558457680 |
666 | T>I | No |
ClinGen Ensembl |
|
|
CA1562470 rs570060457 |
667 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471944718 CA346122447 |
672 | S>C | No |
ClinGen gnomAD |
|
|
CA1562472 rs200927965 |
672 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA346122454 rs1179929754 |
673 | K>E | No |
ClinGen gnomAD |
|
|
rs1350284139 CA346122463 |
673 | K>R | No |
ClinGen gnomAD |
|
|
rs1327432471 CA346122478 |
674 | Q>* | No |
ClinGen TOPMed |
|
|
rs769605218 CA1562474 |
675 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162480296 CA346122522 |
676 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 677 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346122715 rs1365552743 |
681 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346122676 rs1324384354 |
681 | Y>H | No |
ClinGen gnomAD |
|
|
CA1562477 rs772128135 |
682 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377090460 CA1562478 |
682 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA44403371 rs377090460 |
682 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs760799591 CA1562479 |
683 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 683 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391705933 CA346122880 |
687 | Y>C | No |
ClinGen TOPMed |
|
|
rs1491004276 CA346123011 |
688 | H>Q | No |
ClinGen Ensembl |
|
|
CA1562480 rs764290819 |
688 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199858918 CA1562507 |
690 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346123036 rs1404914229 |
691 | L>V | No |
ClinGen gnomAD |
|
|
CA1562510 rs777533856 |
692 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1562514 rs372797665 |
694 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1246795 CA1562515 rs769056765 |
695 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1253721296 CA346123140 |
700 | E>Q | No |
ClinGen gnomAD |
|
|
rs1463332900 CA346123155 |
701 | N>S | No |
ClinGen gnomAD |
|
|
CA346123153 rs1463332900 |
701 | N>T | No |
ClinGen gnomAD |
|
|
CA346123152 rs1267331724 |
701 | N>Y | No |
ClinGen gnomAD |
|
|
rs769945578 CA1562518 COSM1019362 |
702 | S>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1562519 rs3172008 VAR_030628 |
702 | S>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs3172008 CA346123164 |
702 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1562520 rs375773717 |
705 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367749302 CA1562521 |
706 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346123193 rs1196905750 |
706 | Q>P | No |
ClinGen gnomAD |
|
|
rs147970345 CA1562523 |
708 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346123222 rs1459121521 |
709 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753686598 CA1562528 |
712 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1562529 rs757284861 |
713 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA44403663 rs757284861 |
713 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1562530 rs147500371 |
713 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144237212 CA1562535 |
715 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1562536 rs769733696 |
716 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346123293 rs1488299246 |
717 | Q>H | No |
ClinGen gnomAD |
|
|
CA346123291 rs1261068164 |
717 | Q>R | No |
ClinGen gnomAD |
|
|
rs1269628670 CA346123305 |
718 | Y>* | No |
ClinGen gnomAD |
|
|
CA1562538 rs150197359 |
718 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1572389594 CA346123299 |
718 | Y>D | No |
ClinGen Ensembl |
|
|
CA1562539 rs771373674 |
720 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1572389616 CA346123323 |
720 | N>K | No |
ClinGen Ensembl |
|
|
CA44404350 rs1001608250 |
723 | I>T | No |
ClinGen Ensembl |
|
|
rs1444929388 CA346123740 |
724 | N>H | No |
ClinGen gnomAD |
|
|
rs779006357 CA1562576 |
726 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA346123765 rs369464715 |
726 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1562575 rs369464715 |
726 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1409791149 CA346123789 |
727 | L>P | No |
ClinGen TOPMed |
|
|
rs140801619 COSM107571 CA44404357 |
730 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1562579 rs772623559 |
731 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346123902 rs1558459431 |
733 | Q>H | No |
ClinGen Ensembl |
|
|
rs747332332 CA1562581 |
734 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1562585 rs769395737 |
738 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA346124015 rs1300651859 |
739 | T>A | No |
ClinGen gnomAD |
|
|
CA1562586 rs772917439 |
739 | T>I | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q96MC2
[MIM: 615294]: Ciliary dyskinesia, primary, 21 (CILD21)
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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:23354437, 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:23354437, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| axonemal dynein complex | A dynein complex found in eukaryotic cilia and flagella; the motor domain heads interact with adjacent microtubules to generate a sliding force which is converted to a bending motion. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| axonemal dynein complex assembly | The aggregation, arrangement and bonding together of a set of components to form an axonemal dynein complex, a dynein complex found in eukaryotic cilia and flagella, in which the motor domain heads interact with adjacent microtubules to generate a sliding force which is converted to a bending motion. |
| cilium-dependent cell motility | Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| regulation of cilium movement | Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32KY1 | DRC1 | Dynein regulatory complex protein 1 | Bos taurus (Bovine) | PR |
| Q9W3J8 | CG10958 | Dynein regulatory complex protein 1 homolog | Drosophila melanogaster (Fruit fly) | PR |
| Q3USS3 | Drc1 | Dynein regulatory complex protein 1 | Mus musculus (Mouse) | PR |
| Q5XI65 | Drc1 | Dynein regulatory complex protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNPPGSLEAL | DPNVDEHLST | QILAPSVHSD | NSQERIQARR | LRIAARLEAR | RREALGEYLD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKKESEEDQS | KSYKQKEESR | LKLAKLLLCG | TELVTNIQVA | IDIREIHRRV | EEEEIKRQRI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKLENEVKTS | QDKFDEITSK | WEEGKQKRIP | QELWEMLNTQ | QLHCAGLLED | KNKLISELQQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELKTKDDQYV | KDLKKQSDDI | CLLLERMEEQ | VKNVMKTFRE | ELYNIEKAFE | VERQELLASN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KKKWEQALQA | HNAKELEYLN | NRMKKVEDYE | KQLNRQRIWD | CEEYNMIKIK | LEQDVQILEQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QLQQRKAIYQ | LNQEKLEYNL | QVLKKRDEES | TVIKSQQKRK | INRLHDILNN | LRSKYAKQIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QFQEENQSLT | SDYKRLVMQF | KELQKAMRHF | ALIDDEKFWE | IWLMNEEEAK | DLIARAFDVD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RIIHTHHLGL | PWAAPDFWFL | NNVGPISQQP | QKSATQIVEE | MLMRSEEEEA | EEAAAEPESY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LDLPKQISEK | TTKRILMLLC | DESGFLIESK | LLSLLLPLEQ | NECYLLRLDA | IFSALGIESE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DDLYKLVNFF | LKYRAHRLSS | SLQIKPCSQA | SMEKASMEET | STRSELELAE | QTEMEGEKEE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SLVEGEKEEE | EETPPSPWVI | HPNDVLKILE | AFVMGLKKPR | DSRAPLRVQK | NVRDNSKDSE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YWQALTTVIP | SSKQNLWDAL | YTALEKYHLV | LTQRAKLLLE | NSSLEQQNTE | LQALLQQYLN |
| 730 | |||||
| SKINSELQVP | PTQVLRVPTK |