P18074
PR
Gene name |
ERCC2 (XPD, XPDC) |
Protein name |
General transcription and DNA repair factor IIH helicase subunit XPD |
Names |
TFIIH subunit XPD, Basic transcription factor 2 80 kDa subunit, BTF2 p80, CXPD, DNA excision repair protein ERCC-2, DNA repair protein complementing XP-D cells, TFIIH basal transcription factor complex 80 kDa subunit, TFIIH 80 kDa subunit, TFIIH p80, Xeroderma pigmentosum group D-complementing protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2068 |
EC number |
3.6.4.12: Acting on ATP; involved in cellular and subcellular movement |
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
43 structures for P18074
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5IVW | EM | 1000 A | W | 1-760 | PDB |
| 5IY6 | EM | 720 A | W | 1-760 | PDB |
| 5IY7 | EM | 860 A | W | 1-760 | PDB |
| 5IY8 | EM | 790 A | W | 1-760 | PDB |
| 5IY9 | EM | 630 A | W | 1-760 | PDB |
| 5OF4 | EM | 440 A | B | 1-760 | PDB |
| 6NMI | EM | 370 A | B | 1-760 | PDB |
| 6O9L | EM | 720 A | 0 | 1-760 | PDB |
| 6O9M | EM | 440 A | 0 | 1-760 | PDB |
| 6RO4 | EM | 350 A | B | 1-760 | PDB |
| 6TUN | X-ray | 207 A | A/B | 245-439 | PDB |
| 7AD8 | EM | 350 A | B | 1-760 | PDB |
| 7EGB | EM | 330 A | 7 | 1-760 | PDB |
| 7EGC | EM | 390 A | 7 | 1-760 | PDB |
| 7ENA | EM | 407 A | 7 | 1-760 | PDB |
| 7ENC | EM | 413 A | 7 | 1-760 | PDB |
| 7LBM | EM | 480 A | X | 1-760 | PDB |
| 7NVR | EM | 450 A | 0 | 1-760 | PDB |
| 7NVW | EM | 430 A | 0 | 1-760 | PDB |
| 7NVX | EM | 390 A | 0 | 1-760 | PDB |
| 7NVY | EM | 730 A | 0 | 1-760 | PDB |
| 7NVZ | EM | 720 A | 0 | 1-760 | PDB |
| 7NW0 | EM | 660 A | 0 | 1-760 | PDB |
| 8BVW | EM | 400 A | 1 | 1-760 | PDB |
| 8BYQ | EM | 410 A | 1 | 1-760 | PDB |
| 8EBS | EM | 400 A | B | 1-760 | PDB |
| 8EBT | EM | 390 A | B | 1-730 | PDB |
| 8EBU | EM | 330 A | B | 1-760 | PDB |
| 8EBV | EM | 710 A | B | 1-760 | PDB |
| 8EBW | EM | 560 A | B | 1-760 | PDB |
| 8EBX | EM | 360 A | B | 1-760 | PDB |
| 8EBY | EM | 360 A | B | 1-760 | PDB |
| 8GXQ | EM | 504 A | HA | 1-760 | PDB |
| 8GXS | EM | 416 A | HA | 1-760 | PDB |
| 8WAK | EM | 547 A | 7 | 1-760 | PDB |
| 8WAL | EM | 852 A | 7 | 1-760 | PDB |
| 8WAN | EM | 607 A | 7 | 1-760 | PDB |
| 8WAO | EM | 640 A | 7 | 1-760 | PDB |
| 8WAP | EM | 585 A | 7 | 1-760 | PDB |
| 8WAQ | EM | 629 A | 7 | 1-760 | PDB |
| 8WAR | EM | 720 A | 7 | 1-760 | PDB |
| 8WAS | EM | 613 A | 7 | 1-760 | PDB |
| AF-P18074-F1 | Predicted | AlphaFoldDB |
781 variants for P18074
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA308975317 RCV000991966 rs200443634 RCV001136198 CA9513959 |
2 | K>N | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA9513953 RCV001856738 RCV001136197 rs748033766 |
11 | Y>C | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA158761 RCV001136196 RCV001292799 RCV002258797 RCV001329858 RCV003153388 RCV000893772 RCV000120770 rs147972150 |
16 | Y>C | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850767 RCV000374357 rs886054500 |
23 | S>missing | ERCC2-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000770818 CA406379637 rs1568546252 |
41 | E>* | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1360631927 CA406379545 COSM439784 VAR_008187 |
47 | G>R | oesophagus breast XP-D [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt TOPMed dbSNP |
| VAR_017282 | 76 | T>A | XP-D [UniProt] | Yes | UniProt |
|
CA308974064 rs866646197 RCV002429773 RCV001136192 |
77 | V>M | Xeroderma pigmentosum, group D Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000926144 CA158803 RCV000120784 RCV002477309 RCV002255295 rs571718677 |
95 | E>G | Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA158806 RCV000898560 RCV002257423 RCV000120785 rs145947678 |
98 | E>D | Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA406378491 RCV000770817 rs964247601 |
100 | E>* | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002521239 CA9513832 rs142462393 RCV000354908 |
103 | P>L | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001329857 rs760820378 CA9513829 |
112 | R>C | Trichothiodystrophy 1, photosensitive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000018273 rs121913020 VAR_003622 RCV000018274 CA126883 RCV000424822 |
112 | R>H | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive TTD1 and XP-D [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000778550 rs1568543189 |
151 | S>missing | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001880026 RCV001261931 rs139263710 CA9513784 |
154 | H>Q | Cerebrooculofacioskeletal syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9513783 rs151235136 RCV000784900 |
156 | R>* | ERCC2-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9513753 rs146137795 RCV002348573 RCV001132797 |
176 | N>S | Xeroderma pigmentosum, group D Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000120786 RCV002256053 RCV001843479 CA158809 RCV000896557 rs142936491 RCV000358437 |
182 | A>V | Xeroderma pigmentosum, group D Xeroderma pigmentosum Hepatoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001863180 RCV002258182 COSM1590141 rs139884931 COSM998182 CA9513746 RCV001294172 |
185 | R>W | Trichothiodystrophy 1, photosensitive Variant assessed as Somatic; 0.0 impact. endometrium Xeroderma pigmentosum haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000303671 CA10652074 rs886054499 |
191 | P>L | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9513702 RCV001131818 rs1799792 RCV000658844 VAR_011413 RCV002257921 |
201 | H>Y | Xeroderma pigmentosum, group D Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1972354891 RCV001131817 |
203 | N>D | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000120788 rs137910235 CA158815 RCV001262008 RCV001294173 RCV000224777 |
227 | R>C | Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859950 CA9513681 COSM1740555 rs200895828 COSM1740556 RCV000405095 |
231 | V>M | Xeroderma pigmentosum, group D haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1340806384 CA406374309 VAR_008188 |
234 | D>N | XP-D [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000309817 rs372176415 CA9513645 RCV001859949 |
247 | M>T | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001131816 rs1972343102 |
247 | M>V | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9513641 rs753889198 RCV001850766 RCV002392885 RCV000405983 |
250 | N>T | Xeroderma pigmentosum, group D Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370454709 CA9513634 RCV000435999 VAR_008189 RCV000349442 RCV002256206 |
259 | C>Y | ERCC2-Related Disorders Xeroderma pigmentosum TTD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs199863965 CA9513584 RCV000296729 |
301 | T>K | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199863965 RCV001129133 CA9513583 |
301 | T>M | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001657760 VAR_011414 RCV001657759 CA158818 RCV000990231 rs1799793 RCV000120789 RCV001514552 |
312 | D>N | Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002487455 CA9513573 rs757790912 RCV001850765 RCV000990230 |
316 | Q>E | Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000120781 rs530045760 RCV002515856 RCV002055331 CA158794 |
325 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000120782 CA158797 rs551211003 RCV002514631 RCV000785055 |
399 | L>F | ERCC2-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs143710107 CA9513390 RCV001323801 RCV001760410 RCV002259105 RCV002545132 |
423 | D>N | Xeroderma pigmentosum, group D Xeroderma pigmentosum Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs577723968 RCV000324505 RCV002446592 CA9513388 |
426 | P>S | Xeroderma pigmentosum, group D Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA9513344 RCV001136105 RCV001294169 rs141457460 |
447 | V>I | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001307243 RCV001136104 RCV002256689 CA9513341 rs146632315 |
450 | R>H | Xeroderma pigmentosum, group D Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9513338 RCV002379213 RCV000266977 RCV001850764 rs754585006 |
455 | I>V | Xeroderma pigmentosum, group D Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750123656 RCV000761139 |
456 | I>missing | Craniopharyngioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000171546 RCV000897210 rs121913016 RCV003123387 RCV000018267 RCV000120764 VAR_003623 CA158746 RCV002513097 RCV002256001 |
461 | L>V | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum Inborn genetic diseases XP-D and TTD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001294170 rs1972045362 |
476 | V>missing | Trichothiodystrophy 1, photosensitive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs531021258 CA9513295 RCV002258075 RCV000978494 RCV001132705 |
476 | V>I | Xeroderma pigmentosum, group D Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_008190 | 482 | T>del | TTD1 [UniProt] | Yes | UniProt |
|
rs121913025 RCV000018282 VAR_017283 CA257628 |
485 | L>P | Xeroderma pigmentosum, group D XP-D; the corresponding mutation in fission yeast causes complete loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_017284 | 487 | R>G | TTD1 [UniProt] | Yes | UniProt |
| VAR_003624 | 488 | V>del | TTD1; mild [UniProt] | Yes | UniProt |
|
CA158748 rs199738290 RCV001775082 RCV000120765 RCV001356923 |
497 | R>C | Variant assessed as Somatic; 0.0 impact. Cerebrooculofacioskeletal syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs772572683 CA308955634 VAR_017285 |
511 | R>Q | Variant assessed as Somatic; 0.0 impact. XP-D [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
CA9513188 RCV002255623 RCV002482256 rs142568756 RCV001132704 RCV001360953 |
536 | V>M | Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121913019 RCV000018272 CA257626 VAR_003625 |
541 | S>R | Xeroderma pigmentosum, group D XP-D; mild [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
| VAR_008191 | 542 | Y>C | XP-D [UniProt] | Yes | UniProt |
|
CA9513181 rs769146546 RCV000785056 |
546 | E>K | Trichothiodystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000365133 rs886054496 CA10652529 |
550 | A>V | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000120767 RCV000626683 RCV002498561 rs587778271 RCV001008079 RCV000778548 |
568 | F>missing | Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_017286 | 582 | E>VSE | XP-D [UniProt] | Yes | UniProt |
|
RCV001131691 CA9513085 rs190678702 |
592 | R>C | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_017287 | 592 | R>P | TTD1 [UniProt] | Yes | UniProt |
| VAR_017288 | 594 | A>P | TTD1 [UniProt] | Yes | UniProt |
|
CA9513074 VAR_008192 rs140522180 |
601 | R>L | XP-D [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001131688 rs140522180 CA158758 RCV002255293 RCV001579661 RCV000120769 |
601 | R>Q | Xeroderma pigmentosum, group D Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001267911 VAR_017289 CA9513075 rs753641926 RCV002282460 RCV001131689 |
601 | R>W | Xeroderma pigmentosum, group D XP-D [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs771824813 CA9513073 VAR_003627 |
602 | G>D | XP-D; combined with features of Cockayne syndrome [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs759116129 RCV002558277 RCV001292642 RCV001131685 CA9513027 |
611 | V>A | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000763054 RCV001195426 CA9513025 RCV002523070 VAR_003626 rs376556895 RCV000489442 COSM1681129 RCV000312948 |
616 | R>P | ovary Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum Inborn genetic diseases XP-D and TTD1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002256728 RCV001780237 RCV001292729 CA308951355 rs376556895 |
616 | R>Q | Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA126891 VAR_008193 RCV000018278 RCV001582486 rs121913024 RCV002468972 RCV000171547 |
616 | R>W | Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 (cofs2) XP-D and COFS2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA9513020 rs372960848 RCV001129003 RCV002256687 RCV001856683 |
623 | V>I | Xeroderma pigmentosum, group D Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000764209 RCV001329853 RCV000662070 RCV000662069 RCV000662071 RCV000120771 RCV001854613 rs200665173 RCV002256052 CA158764 |
629 | Q>H | Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 1 Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001856682 rs144511865 RCV001129002 CA9513013 |
631 | R>C | Xeroderma pigmentosum, group D Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002257422 rs34517175 RCV000120772 CA158767 RCV001129001 RCV000860939 |
635 | A>V | Xeroderma pigmentosum, group D Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA126885 RCV003153304 rs121913021 RCV000018275 VAR_008194 COSM190868 RCV002482884 RCV002513098 |
658 | R>C | Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 large_intestine Ovarian cancer TTD1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_017290 | 658 | R>G | TTD1 [UniProt] | Yes | UniProt |
|
rs762141272 CA9512956 VAR_008195 |
658 | R>H | TTD1 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA9512947 VAR_017291 rs770367713 |
663 | C>R | TTD1 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_017292 rs752510317 CA9512943 |
666 | R>W | XP-D [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001859268 RCV001329854 rs1971844960 |
671 | K>missing | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_008196 | 673 | D>G | TTD1 [UniProt] | Yes | UniProt |
|
VAR_017293 CA126889 RCV000018277 rs121913023 RCV003114198 |
681 | D>N | Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 (cofs2) XP-D and COFS2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV000248679 CA10587999 rs758439420 VAR_008197 RCV002487166 RCV000812198 |
683 | R>Q | Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 XP-D [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_008198 RCV000623275 RCV000763053 RCV000518900 RCV000018284 rs41556519 CA257630 |
683 | R>W | Variant assessed as Somatic; 4.644e-05 impact. Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Inborn genetic diseases XP-D; vitamin D-mediated activation of CYP24A1 is impaired in patient fibroblasts due to altered TFIIH-dependent phosphorylation of ETS1, subsequent impaired cooperation of ETS1 with VDR and altered VDR recruitment to CYP24A1 promoter [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003117436 rs764868582 RCV003162768 RCV001764743 RCV000626684 CA9512893 |
694 | P>S | Xeroderma pigmentosum, group D Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000120773 RCV001129000 RCV000624067 RCV001854614 CA158770 rs201392911 |
695 | R>C | Xeroderma pigmentosum, group D Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555775416 RCV000677677 CA406362328 |
698 | Q>* | Cerebrooculofacioskeletal syndrome 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002255294 RCV001135985 RCV001854615 RCV000120776 CA158779 rs141808167 |
710 | V>M | Xeroderma pigmentosum, group D Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000018276 rs121913022 VAR_008199 CA126887 |
713 | G>R | Trichothiodystrophy 1, photosensitive TTD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
| VAR_003629 | 716 | V>del | XP-D and TTD1 [UniProt] | Yes | UniProt |
|
rs144564120 RCV003114266 CA158773 RCV003123387 RCV000255243 RCV001329855 RCV000778547 RCV000761018 RCV002515854 RCV000990227 RCV000120774 |
717 | A>G | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive ERCC2-Related Disorders Xeroderma pigmentosum Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121913026 VAR_003630 CA126893 RCV000018283 RCV001265586 RCV000255624 RCV000763052 RCV001199920 RCV000677676 RCV001449816 |
722 | R>W | Trichothiodystrophy 1, photosensitive Trichothiodystrophy Cerebrooculofacioskeletal syndrome 2 ERCC2-related conditions Hypotrichosis simplex TTD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000018270 VAR_003631 RCV002490383 RCV003155035 rs121913018 CA126881 RCV001851906 |
725 | A>P | Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum TTD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs121913017 CA257623 RCV000018269 |
726 | Q>* | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201370106 RCV001132599 RCV000120779 CA158788 |
744 | L>P | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000120777 RCV001657757 RCV000436606 RCV000418924 CA158782 RCV000282755 RCV001657758 RCV001514550 rs13181 VAR_011416 |
751 | K>Q | Bone osteosarcoma Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Non-small cell lung carcinoma may be associated with increased susceptibility to DNA damage [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001351124 rs200022901 RCV000379994 CA9512797 |
754 | E>Q | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001132597 rs1971782991 |
760 | L>F | Xeroderma pigmentosum, group D [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745363914 CA9513958 |
5 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA406380303 rs1388963841 |
6 | D>N | No |
ClinGen gnomAD |
|
|
CA9513957 rs773936050 |
7 | G>W | No |
ClinGen ExAC |
|
|
rs1428215749 CA406380239 |
8 | L>P | No |
ClinGen TOPMed |
|
|
CA9513952 rs748033766 |
11 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA9513954 rs777490688 |
11 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758518982 CA9513950 |
13 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs141622611 CA406380102 |
14 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA406380024 rs1318658148 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA9513945 rs761090656 |
20 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs764513844 CA9513946 |
20 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9513944 rs753306707 |
21 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA406379932 COSM1750983 rs759037835 |
23 | S>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs886054500 | 23 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9513942 rs759037835 |
23 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1180365343 CA406379939 |
23 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1180365343 CA406379941 |
23 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773848568 CA9513941 |
25 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773848568 CA406379904 |
25 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406379891 rs770507184 |
26 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513940 rs770507184 |
26 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933045867 CA308975159 |
26 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs762622002 CA9513939 |
27 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA158791 rs587778273 RCV000120780 |
27 | E>DF | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA308975155 rs986893901 |
27 | E>G | No |
ClinGen Ensembl |
|
|
CA308975151 rs552042205 |
28 | L>R | No |
ClinGen Ensembl |
|
|
rs1215067695 CA406379877 |
29 | K>E | No |
ClinGen gnomAD |
|
|
rs773018804 CA9513938 |
29 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs769614088 CA9513937 |
30 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769614088 CA406379871 |
30 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374798062 CA9513936 |
31 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374798062 CA406379863 |
31 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1028669511 CA308975130 |
33 | D>Y | No |
ClinGen Ensembl |
|
|
rs768632615 CA9513934 |
34 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9513933 rs745939392 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA308975121 rs1041573793 |
35 | K>E | No |
ClinGen TOPMed |
|
|
CA406379838 rs1160897382 |
35 | K>N | No |
ClinGen TOPMed |
|
|
CA9513909 rs749368007 |
37 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs778210446 CA9513908 |
39 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322143480 CA406379524 |
50 | V>I | No |
ClinGen gnomAD |
|
|
CA9513903 rs752144394 |
52 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA308974252 rs992698178 |
54 | A>S | No |
ClinGen Ensembl |
|
|
CA158800 RCV002514632 RCV000120783 rs587778274 |
55 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA9513900 rs746713272 |
57 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA406379409 rs1176128995 |
59 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1420151470 CA406379381 |
61 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA308974100 rs373448214 |
63 | Y>C | No |
ClinGen Ensembl |
|
|
CA9513872 rs773453200 |
64 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513870 rs761965639 |
66 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA406379268 rs961564676 |
66 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs961564676 CA308974085 |
66 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1599751089 CA406379260 |
67 | V>G | No |
ClinGen Ensembl |
|
|
rs1357093006 CA406379242 |
70 | L>H | No |
ClinGen TOPMed |
|
|
CA406379203 rs1272175472 |
73 | C>R | No |
ClinGen TOPMed |
|
|
rs866646197 CA406379154 |
77 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9513867 rs373292179 |
78 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406378878 rs1254013195 |
84 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779462120 CA9513846 |
87 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513844 rs748842373 |
88 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748842373 CA9513845 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1394598 rs777095373 CA9513843 |
88 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755818754 CA9513842 |
90 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs982806873 CA406378651 |
92 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9513840 RCV000500978 rs780965895 RCV002527246 |
92 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1328869143 COSM1645770 CA406378635 COSM474917 |
93 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9513839 rs372410769 |
94 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9513838 rs372410769 |
94 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281566631 CA406378599 |
95 | E>D | No |
ClinGen TOPMed |
|
|
rs762743220 CA9513837 |
97 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513836 rs753975439 |
98 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402868401 CA406378509 |
99 | G>D | No |
ClinGen gnomAD |
|
|
CA308973747 rs964247601 |
100 | E>K | No |
ClinGen gnomAD |
|
|
rs1182986304 CA406378446 |
101 | K>N | No |
ClinGen gnomAD |
|
|
CA9513834 rs201123342 |
101 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1018363931 CA308973742 |
102 | L>V | No |
ClinGen Ensembl |
|
|
CA406378387 rs142462393 |
103 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142462393 CA9513833 |
103 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212734412 CA406378233 |
107 | L>V | No |
ClinGen gnomAD |
|
|
CA9513830 rs771447173 |
108 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278299178 CA406378147 |
110 | S>T | No |
ClinGen gnomAD |
|
|
rs760820378 CA308973700 |
112 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308973699 rs773632957 |
114 | N>H | No |
ClinGen Ensembl |
|
|
CA406378022 rs1435154200 |
115 | L>S | No |
ClinGen Ensembl |
|
|
CA9513827 rs747684939 |
118 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1349542172 CA406377902 |
120 | E>D | No |
ClinGen gnomAD |
|
|
rs1434217756 CA406376347 |
121 | V>M | No |
ClinGen gnomAD |
|
|
CA9513811 rs770334103 |
122 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747619345 CA9513810 |
123 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA308970229 rs994071519 |
123 | P>T | No |
ClinGen TOPMed |
|
|
CA9513809 rs372425466 |
125 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9513808 rs372425466 |
125 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746621981 CA9513807 |
125 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1265794840 CA406376171 |
130 | V>I | No |
ClinGen TOPMed |
|
|
rs752794877 CA406376161 |
131 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs752794877 CA9513800 |
131 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA406376123 rs1363464189 |
133 | K>R | No |
ClinGen TOPMed |
|
|
rs767543274 CA9513799 |
134 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA308970177 rs1001245726 |
135 | H>D | No |
ClinGen TOPMed |
|
|
rs905654396 CA308970172 |
136 | S>N | No |
ClinGen TOPMed |
|
|
rs1288662025 CA406376042 |
139 | A>V | No |
ClinGen gnomAD |
|
|
CA9513796 rs759068484 |
141 | Y>* | No |
ClinGen ExAC |
|
|
CA9513797 rs751825528 |
141 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs368379343 CA308970162 |
142 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA9513793 rs765679315 |
143 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150000483 CA9513791 |
143 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9513792 rs765679315 |
143 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1205608 COSM1645333 rs776313922 CA9513790 |
144 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1321860127 CA406375941 |
146 | Y>* | No |
ClinGen gnomAD |
|
|
rs1599745375 CA406375949 |
146 | Y>S | No |
ClinGen Ensembl |
|
|
CA9513787 rs775063508 |
148 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9513788 rs201382232 |
148 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513786 rs771687310 |
149 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA308970060 rs1019582506 RCV001309450 |
150 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9513785 rs367883716 |
152 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488539972 CA406375881 |
153 | P>S | No |
ClinGen gnomAD |
|
|
rs1599745310 CA406375874 |
154 | H>P | No |
ClinGen Ensembl |
|
|
rs1245575563 CA406375875 |
154 | H>Y | No |
ClinGen gnomAD |
|
|
rs1555778262 CA658799251 RCV000597751 |
156 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9513782 rs201294521 |
156 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568543165 CA406375857 |
157 | F>V | No |
ClinGen Ensembl |
|
|
CA9513780 rs375288194 |
158 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1207653077 CA406375801 |
163 | A>T | No |
ClinGen TOPMed |
|
|
CA9513762 rs769656890 |
164 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308969876 rs1032384332 |
166 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747109257 CA9513761 |
166 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747109257 CA406375780 |
166 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367829012 CA9513760 |
167 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758582720 CA9513759 |
168 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9513757 rs778982397 |
169 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406375762 rs778982397 |
169 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9513756 rs375479622 |
170 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754250983 CA9513755 |
171 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs559154781 CA406375750 |
172 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001854616 RCV000120787 rs559154781 CA158812 |
172 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA406375739 rs1568543015 |
174 | I>V | No |
ClinGen Ensembl |
|
|
CA406375729 rs1463343405 |
175 | Y>C | No |
ClinGen gnomAD |
|
|
CA406375717 rs1323729246 |
177 | L>V | No |
ClinGen gnomAD |
|
|
CA9513752 rs767092931 |
178 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA406375700 rs758943868 |
179 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513750 rs774109145 |
181 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766007432 CA9513749 |
182 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406375670 rs1451258340 |
185 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9513745 rs143960980 |
186 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772245022 CA9513744 |
186 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772245022 CA406375664 |
186 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297512557 CA406375657 |
187 | Q>H | No |
ClinGen TOPMed |
|
|
rs1443812448 COSM1481222 CA406375659 |
187 | Q>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs779345223 CA9513742 |
189 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9513741 RCV001008703 rs377532898 |
189 | W>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA308969709 rs377532898 |
189 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406375638 rs1330684188 |
190 | C>F | No |
ClinGen gnomAD |
|
|
CA9513740 rs373346316 |
191 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054890454 CA308969663 |
193 | F>L | No |
ClinGen gnomAD |
|
|
rs756514271 CA9513738 |
194 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs753293260 CA406375603 |
196 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs753293260 CA9513737 |
196 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406375600 rs1599744919 |
197 | Y>H | No |
ClinGen Ensembl |
|
|
CA406375589 rs767895008 |
198 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767895008 CA9513736 |
198 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_011412 CA308969188 rs1799791 |
199 | I>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA406375566 rs1249198184 |
200 | L>Q | No |
ClinGen TOPMed |
|
|
CA9513701 rs775534713 |
202 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406375533 rs771182769 |
203 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513700 rs771182769 |
203 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406375517 rs1447439738 |
204 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406374481 rs1372672442 |
206 | V>A | No |
ClinGen TOPMed |
|
|
rs1222354588 CA406374485 |
206 | V>F | No |
ClinGen gnomAD |
|
|
CA406374483 rs1222354588 |
206 | V>I | No |
ClinGen gnomAD |
|
|
CA406374416 rs1450221693 |
215 | P>L | No |
ClinGen TOPMed |
|
|
CA9513692 rs780519795 |
215 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs939705286 COSM1394597 CA308967601 |
218 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 219 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308967585 rs1050709482 |
219 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA406374391 rs1468330154 |
219 | D>V | No |
ClinGen gnomAD |
|
|
CA308967591 rs908169514 |
219 | D>Y | No |
ClinGen Ensembl |
|
|
rs375055722 CA9513691 |
220 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375055722 CA9513690 |
220 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406374382 rs1253511182 |
221 | V>A | No |
ClinGen gnomAD |
|
|
CA9513689 rs778633467 |
222 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs756802959 CA406374359 |
225 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753696173 CA9513687 |
226 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9513686 rs137910235 |
227 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150708456 CA9513685 |
227 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9513684 rs767554263 |
228 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA406374337 rs1440197696 |
229 | A>S | No |
ClinGen TOPMed |
|
|
rs763125782 CA9513683 |
229 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244316049 CA406374333 |
230 | V>I | No |
ClinGen TOPMed |
|
|
CA406374327 rs200895828 |
231 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392388856 CA406374323 |
232 | V>I | No |
ClinGen TOPMed |
|
|
rs1450286298 CA406374270 |
239 | I>V | No |
ClinGen gnomAD |
|
|
CA406374245 rs1213865808 |
240 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772590907 CA9513653 |
241 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA406374222 rs1276618779 |
244 | I>L | No |
ClinGen gnomAD |
|
|
rs373375265 CA9513649 |
244 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774897368 CA9513651 |
244 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA406374223 rs1276618779 |
244 | I>V | No |
ClinGen gnomAD |
|
|
rs755766334 CA9513647 |
245 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9513648 rs777291413 |
245 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513643 rs751503197 |
249 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513642 rs766330583 |
250 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA9513640 rs753889198 |
250 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196791397 CA406374178 |
251 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9513638 rs760839803 |
252 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA308967089 rs1019756624 |
253 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1483001294 CA406374167 |
253 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406374169 rs1019756624 |
253 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775864354 CA9513637 |
254 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775864354 CA406374164 |
254 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406374155 rs1203734080 |
255 | T>I | No |
ClinGen gnomAD |
|
|
CA406374147 rs1305686667 |
257 | D>N | No |
ClinGen gnomAD |
|
|
CA9513635 rs759930858 |
258 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767916267 CA9513636 |
258 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA308967066 rs933645681 |
260 | Q>H | No |
ClinGen Ensembl |
|
|
CA308967070 rs1050740821 |
260 | Q>K | No |
ClinGen Ensembl |
|
|
rs1568542279 CA406374118 |
261 | G>R | No |
ClinGen Ensembl |
|
|
CA406374106 rs1281649633 |
262 | N>D | No |
ClinGen gnomAD |
|
|
CA406374079 rs1411839178 |
264 | E>K | No |
ClinGen gnomAD |
|
|
rs1411839178 CA406374077 |
264 | E>Q | No |
ClinGen gnomAD |
|
|
rs1161399233 CA406373985 |
269 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1161399233 CA406373987 |
269 | T>R | No |
ClinGen TOPMed |
|
|
CA406373867 rs779850024 RCV001311538 |
274 | K>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9513602 rs779850024 |
274 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369933955 RCV001348711 CA9513601 |
274 | K>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1316083066 CA406373827 |
276 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9513598 rs756251880 |
279 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs781402308 CA9513596 |
280 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755174338 CA9513595 |
280 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308966850 rs948547865 |
282 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs375415853 CA9513594 |
282 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs571265507 CA9513591 |
283 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1054768577 CA406373718 |
284 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1054768577 CA308966824 |
284 | E>Q | No |
ClinGen TOPMed |
|
|
rs1033932068 CA308966814 |
286 | R>P | No |
ClinGen Ensembl |
|
|
COSM1304771 rs1489583901 CA406373681 |
286 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1222183146 CA406373669 |
287 | R>C | No |
ClinGen gnomAD |
|
|
CA9513590 rs765839639 |
287 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406373638 rs1326520830 |
289 | V>G | No |
ClinGen gnomAD |
|
|
rs1228731328 CA406373646 |
289 | V>L | No |
ClinGen gnomAD |
|
|
rs1228731328 CA406373648 |
289 | V>M | No |
ClinGen gnomAD |
|
|
CA406373622 rs1294229556 |
290 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406373608 rs1346984198 |
291 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406373584 rs1363432651 |
293 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169596580 CA406373581 |
294 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1372639983 CA406373535 |
297 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776223836 CA9513588 |
297 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406373518 rs1269826858 |
298 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406373522 rs1269826858 |
298 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406373505 rs1253027478 |
299 | R>Q | No |
ClinGen gnomAD |
|
|
rs760337216 CA9513586 |
299 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA406373498 rs774977350 |
300 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774977350 CA9513585 |
300 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406373411 rs1403894013 |
306 | A>T | No |
ClinGen gnomAD |
|
|
CA406373402 rs1343419778 |
306 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781205093 CA9513579 |
307 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395652548 CA406373361 |
309 | V>M | No |
ClinGen gnomAD |
|
|
rs1166266405 CA406373349 |
310 | L>M | No |
ClinGen gnomAD |
|
|
CA406373327 rs1175995366 |
311 | P>R | No |
ClinGen gnomAD |
|
|
rs1799793 CA308966691 |
312 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780129241 CA406373304 |
313 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780129241 CA9513577 |
313 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9513576 rs758868035 |
314 | V>A | No |
ClinGen ExAC |
|
|
CA406373284 rs1207164839 |
314 | V>L | No |
ClinGen gnomAD |
|
|
CA406373258 rs757790912 |
316 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406373247 rs753430730 CA9513572 |
316 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs757790912 CA9513574 |
316 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406373174 rs1383411854 |
317 | E>D | No |
ClinGen gnomAD |
|
|
CA9513559 rs749260944 |
318 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308966432 rs992202790 |
320 | P>A | No |
ClinGen Ensembl |
|
|
rs1319246437 CA406373127 |
321 | G>S | No |
ClinGen gnomAD |
|
|
CA406373103 rs1383346236 |
322 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1012733352 CA308966420 |
323 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1165852088 CA406373091 |
323 | I>T | No |
ClinGen gnomAD |
|
|
rs1322620921 CA406373079 |
324 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs892942500 CA308966407 |
324 | R>H | No |
ClinGen TOPMed |
|
|
rs1182239288 CA406373071 |
325 | T>A | No |
ClinGen gnomAD |
|
|
COSM1190083 rs530045760 CA406373064 |
325 | T>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 326 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308966355 rs868438447 |
327 | E>* | No |
ClinGen Ensembl |
|
|
CA308966348 rs867769477 |
327 | E>D | No |
ClinGen Ensembl |
|
|
rs779381865 CA9513553 |
327 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA406373029 rs779381865 |
327 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1283691494 CA406373018 |
328 | H>Y | No |
ClinGen gnomAD |
|
|
CA406372976 rs1359840113 |
330 | L>P | No |
ClinGen gnomAD |
|
|
CA406372886 rs1364179043 |
334 | R>K | No |
ClinGen gnomAD |
|
|
rs1226480892 CA406372888 |
334 | R>W | No |
ClinGen gnomAD |
|
|
rs1324891873 CA406372852 |
335 | R>Q | No |
ClinGen gnomAD |
|
|
rs754447250 CA9513551 |
335 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412068236 CA406372750 CA406372748 |
339 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1162235840 CA406372778 |
339 | Y>N | No |
ClinGen gnomAD |
|
|
CA406372741 rs1421106193 |
340 | V>M | No |
ClinGen gnomAD |
|
|
CA406372672 rs1260632618 |
343 | R>Q | No |
ClinGen gnomAD |
|
|
CA406372676 rs1243536822 |
343 | R>W | No |
ClinGen TOPMed |
|
|
CA406372642 rs1201076330 |
345 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406372638 rs1201076330 |
345 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs764502577 CA9513550 |
345 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406372620 rs1203996233 |
346 | V>M | No |
ClinGen TOPMed |
|
|
CA406372587 rs1267835414 |
347 | Q>* | No |
ClinGen gnomAD |
|
|
CA406372578 rs1270366302 |
347 | Q>R | No |
ClinGen TOPMed |
|
|
CA406372556 rs1219369736 |
348 | H>Y | No |
ClinGen gnomAD |
|
|
CA406372431 rs1214025738 |
352 | E>* | No |
ClinGen gnomAD |
|
|
rs1599742658 CA406372422 |
352 | E>G | No |
ClinGen Ensembl |
|
|
rs1214025738 CA406372441 |
352 | E>K | No |
ClinGen gnomAD |
|
|
CA406372338 rs1285451320 |
356 | A>T | No |
ClinGen gnomAD |
|
|
rs910326340 CA308966297 |
356 | A>V | No |
ClinGen TOPMed |
|
|
CA406372316 rs1477313928 |
357 | F>L | No |
ClinGen gnomAD |
|
|
CA406372262 rs1405713948 |
360 | G>R | No |
ClinGen gnomAD |
|
|
rs576796170 CA308966292 |
361 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1445063129 CA406372184 |
362 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406372179 rs1355603581 |
362 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406372161 rs556547321 |
363 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9513547 rs367741538 |
364 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9513546 rs759145034 |
364 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983369993 CA308966279 |
365 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751177434 CA9513545 |
365 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA406372101 rs1383264889 |
366 | C>Y | No |
ClinGen TOPMed |
|
|
rs1227321118 CA406372041 |
368 | Q>H | No |
ClinGen TOPMed |
|
|
CA308966271 rs974354644 |
369 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA308966270 rs951527717 |
369 | R>P | No |
ClinGen Ensembl |
|
|
rs1456509694 CA406371978 |
370 | K>N | No |
ClinGen gnomAD |
|
|
CA406371999 rs1203669201 |
370 | K>Q | No |
ClinGen gnomAD |
|
|
rs1029369684 CA308966258 |
370 | K>R | No |
ClinGen Ensembl |
|
|
rs1265010617 CA406371965 |
371 | P>S | No |
ClinGen gnomAD |
|
|
rs1323072013 CA406371919 |
373 | R>K | No |
ClinGen gnomAD |
|
|
CA406370193 rs1466744282 |
376 | A>G | No |
ClinGen TOPMed |
|
|
CA9513494 rs186220206 |
378 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200043231 CA9513493 |
378 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA406370127 rs1599739521 |
379 | L>F | No |
ClinGen Ensembl |
|
|
CA308964324 rs752646404 |
380 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513491 rs752646404 |
380 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756071720 CA9513492 |
380 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9513490 rs766615005 |
381 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1196171839 CA406370078 |
384 | H>Y | No |
ClinGen gnomAD |
|
|
CA9513488 rs773372028 |
385 | T>A | No |
ClinGen ExAC |
|
| TCGA novel | 387 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9513485 rs369191500 |
390 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369191500 CA9513486 |
390 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9513484 rs769183673 |
391 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284802633 CA406369974 |
393 | D>A | No |
ClinGen TOPMed |
|
|
CA406369976 rs1486595851 |
393 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406369958 rs374391544 CA9513482 |
394 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9513479 rs778436682 |
396 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745382361 CA9513480 |
396 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA308964165 rs1046159317 |
397 | L>F | No |
ClinGen Ensembl |
|
|
CA9513478 rs756881748 |
398 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406369906 rs1158298751 |
399 | L>P | No |
ClinGen TOPMed |
|
|
rs1009662380 CA308964159 |
402 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs892115162 CA308964158 |
403 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406369860 rs892115162 |
403 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752740153 CA9513475 |
405 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758411303 CA9513473 |
406 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9513471 rs765401939 RCV001350423 |
407 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1226251099 CA406369812 |
408 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs916150601 CA308964123 |
409 | T>P | No |
ClinGen TOPMed |
|
|
CA406369804 rs916150601 |
409 | T>S | No |
ClinGen TOPMed |
|
|
rs1369489395 CA406369797 |
410 | Y>C | No |
ClinGen TOPMed |
|
|
rs1445936046 CA406369790 |
411 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9513468 rs764495135 |
413 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001195371 RCV001876266 CA406368312 rs1218421285 |
413 | G>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA406368285 rs1354803589 |
414 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1285944013 CA406368276 |
415 | T>A | No |
ClinGen gnomAD |
|
|
CA406368196 rs574002154 |
419 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9513393 rs771820925 |
419 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775219805 CA9513394 |
419 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513395 rs574002154 |
419 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436984942 CA406368182 |
420 | P>S | No |
ClinGen TOPMed |
|
|
CA9513392 rs745852928 |
422 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA406368118 rs1470481436 |
423 | D>G | No |
ClinGen TOPMed |
|
|
CA158743 rs577723968 RCV000120763 |
426 | P>A | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA9513387 rs377739888 |
426 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563069969 CA308959396 |
427 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9513385 rs375254364 |
428 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406368023 rs758816422 |
429 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9513384 rs758816422 |
429 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406368005 rs1215155157 |
430 | N>S | No |
ClinGen gnomAD |
|
|
CA406367971 rs1266742977 |
431 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1266742977 CA406367968 |
431 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406367950 rs1337990384 |
432 | I>F | No |
ClinGen TOPMed |
|
|
rs1320544088 CA406367946 |
432 | I>N | No |
ClinGen gnomAD |
|
|
rs1443559001 CA406367926 |
434 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 436 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs903617969 CA308959235 |
438 | M>T | No |
ClinGen TOPMed |
|
|
CA406367702 rs200588470 |
439 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762837634 CA9513352 |
439 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768677952 CA9513350 |
440 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760834335 CA9513349 |
441 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406367669 rs1256958112 |
442 | L>V | No |
ClinGen TOPMed |
|
|
CA9513347 rs772366393 |
444 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746262265 CA9513346 |
445 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000627546 rs1555776677 |
447 | V>missing | No |
ClinVar dbSNP |
|
|
CA406367570 rs141457460 |
447 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41559922 CA308959207 |
448 | F>S | No |
ClinGen TOPMed |
|
|
rs749815182 CA9513343 |
450 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146632315 CA9513342 |
450 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308959192 rs199643821 |
452 | Q>* | No |
ClinGen TOPMed |
|
|
CA9513340 rs566827695 |
453 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9513339 rs780844758 |
454 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447644779 CA406367416 |
456 | I>M | No |
ClinGen gnomAD |
|
|
CA9513337 rs751181061 |
456 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758200940 CA9513334 |
459 | G>V | No |
ClinGen ExAC |
|
|
CA308958935 rs902104432 |
465 | D>A | No |
ClinGen TOPMed |
|
|
CA9513303 rs770112471 |
465 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406367236 rs1192166210 |
466 | I>M | No |
ClinGen TOPMed |
|
|
rs762354840 CA9513302 |
466 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs762354840 CA406367237 |
466 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9513301 rs777108823 |
468 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406367208 rs1342838819 |
469 | K>E | No |
ClinGen gnomAD |
|
|
CA406367148 rs1399969451 |
473 | F>C | No |
ClinGen gnomAD |
|
|
CA406367146 rs1359215642 |
473 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746461660 CA9513299 |
474 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1039239653 CA308958921 |
474 | H>Y | No |
ClinGen TOPMed |
|
|
CA406367126 rs1160568011 |
475 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 475 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779588231 CA9513298 |
475 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778895620 CA9513294 |
477 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs944171529 CA308958900 |
478 | M>T | No |
ClinGen Ensembl |
|
|
rs757100147 CA9513293 |
480 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755024070 CA9513290 |
483 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9513291 rs777782442 |
483 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9513288 rs766540207 |
486 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs150865508 CA9513286 |
487 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562132292 CA9513287 RCV001092421 |
487 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA308958876 rs1049046025 |
488 | V>A | No |
ClinGen TOPMed |
|
|
rs765647206 CA9513285 |
489 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs769095908 CA9513283 |
493 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360236693 CA406366918 |
493 | M>T | No |
ClinGen gnomAD |
|
|
rs769095908 CA9513282 |
493 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513252 rs769452478 |
494 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs780986760 CA9513250 |
495 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513251 rs370293513 |
495 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406365974 rs1437680307 |
496 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757432268 CA9513247 |
497 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9513248 COSM1681130 rs199738290 |
497 | R>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764571522 CA9513245 |
499 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA9513244 rs756425299 |
501 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406365907 rs1370766746 |
502 | V>A | No |
ClinGen gnomAD |
|
|
CA406365895 rs1304167249 |
503 | A>V | No |
ClinGen gnomAD |
|
|
rs753317794 CA9513243 RCV000996943 |
504 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA406365845 rs1311061603 |
506 | S>F | No |
ClinGen gnomAD |
|
|
CA9513240 rs575225436 |
508 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773956214 CA9513239 |
510 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9513238 rs765953718 |
513 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9513237 rs762741848 |
514 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA406365749 rs1354546164 |
514 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1599729214 CA406365625 |
516 | V>M | No |
ClinGen Ensembl |
|
|
rs749303660 CA9513201 |
517 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1039034665 CA308954747 |
518 | R>Q | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778075234 CA9513200 |
518 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 520 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9513198 rs748368283 |
523 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769182041 CA308954731 |
523 | L>R | No |
ClinGen Ensembl |
|
|
rs1291917071 CA406365505 |
526 | E>K | No |
ClinGen TOPMed |
|
|
rs1357923064 CA406365466 |
528 | S>F | No |
ClinGen TOPMed |
|
|
CA9513194 rs370819591 |
529 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308954717 rs775915569 |
529 | A>V | No |
ClinGen Ensembl |
|
|
CA9513193 rs749852903 |
531 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs749852903 CA9513192 |
531 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs764973641 CA406365426 |
532 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764973641 CA9513191 |
532 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568534114 CA406365411 |
534 | G>S | No |
ClinGen Ensembl |
|
|
CA308954695 rs761322666 |
537 | A>V | No |
ClinGen TOPMed |
|
|
CA9513186 rs760461567 |
538 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA406365361 rs1447777499 |
538 | F>V | No |
ClinGen gnomAD |
|
|
CA406365332 rs1599729076 |
540 | T>P | No |
ClinGen Ensembl |
|
|
rs121913019 CA406365322 |
541 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406365314 rs1475484723 |
541 | S>I | No |
ClinGen TOPMed |
|
|
CA308954682 rs866704383 |
543 | Q>* | No |
ClinGen gnomAD |
|
|
CA406365285 rs1568534086 |
543 | Q>H | No |
ClinGen Ensembl |
|
|
rs587778270 CA406365288 |
543 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000120766 rs587778270 CA158751 |
543 | Q>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs748375308 CA9513182 |
545 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1971954711 RCV001092420 |
545 | M>T | No |
ClinVar dbSNP |
|
|
rs748375308 CA308954648 |
545 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs769146546 CA9513179 |
546 | E>Q | No |
ClinGen ExAC |
|
| TCGA novel | 546 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9513178 rs747319235 |
547 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406365211 rs199778239 |
549 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199778239 RCV001297997 CA9513174 |
549 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs756781264 CA9513173 |
552 | W>* | No |
ClinGen ExAC |
|
|
rs753505084 CA9513171 |
555 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1427879797 CA406364532 |
559 | E>Q | No |
ClinGen TOPMed |
|
|
CA406364520 rs1481081794 |
560 | N>T | No |
ClinGen TOPMed |
|
|
CA9513141 rs761029037 |
564 | N>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001311537 rs767672172 |
569 | I>missing | No |
ClinVar dbSNP |
|
|
rs74792417 CA9513138 |
569 | I>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA406364458 rs1163690129 |
569 | I>T | No |
ClinGen gnomAD |
|
|
CA9513135 rs771423657 |
573 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201118906 CA406364419 |
575 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406364415 rs1568532765 |
575 | A>V | No |
ClinGen Ensembl |
|
|
CA9513133 rs201165309 |
576 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9513131 rs747861061 |
579 | V>I | No |
ClinGen ExAC |
|
|
rs751318902 CA9513128 |
580 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751318902 CA9513127 |
580 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779887284 CA9513126 |
581 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA633480489 rs1246376622 |
583 | K>* | No |
ClinGen gnomAD |
|
|
rs1219803956 CA406364318 |
584 | Y>N | No |
ClinGen TOPMed |
|
|
CA308952587 rs1033444972 |
585 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1438249491 CA406364292 |
585 | Q>H | No |
ClinGen gnomAD |
|
|
CA633480488 rs1402261657 |
586 | E>* | No |
ClinGen gnomAD |
|
|
rs750364723 CA406364281 |
586 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513122 rs750364723 |
586 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9513088 rs553920662 |
588 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9513086 rs779040262 |
589 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs190678702 CA406364214 |
592 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA158755 RCV000120768 RCV001799620 rs147224585 |
592 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 592 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759307982 CA9513082 CA9513083 |
593 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766576746 CA9513081 |
594 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9513079 rs750755806 |
595 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA406364200 rs1416467153 |
595 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1277236046 CA406364183 |
598 | S>A | No |
ClinGen TOPMed |
|
|
CA9513072 rs745695024 |
603 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406364130 rs1233687600 |
606 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755145728 CA9513067 |
608 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406364110 rs1333798247 |
608 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 609 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406363958 rs1304212330 |
612 | H>Y | No |
ClinGen gnomAD |
|
|
rs1173304010 CA406363947 |
613 | H>N | No |
ClinGen TOPMed |
|
|
CA406363926 rs1233603139 |
614 | Y>C | No |
ClinGen gnomAD |
|
|
CA406363916 rs1309347920 |
615 | G>R | No |
ClinGen TOPMed gnomAD |
|
| VAR_011415 | 616 | R>C | No | UniProt | |
|
CA308951320 rs922327414 COSM48370 |
618 | V>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA406363867 rs1376790372 |
619 | I>N | No |
ClinGen gnomAD |
|
|
rs769584706 CA9513023 |
619 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406363853 rs1453219809 |
620 | M>T | No |
ClinGen gnomAD |
|
|
rs1173754189 CA406363859 |
620 | M>V | No |
ClinGen gnomAD |
|
|
CA9513022 rs200147400 |
622 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555775595 CA406363812 |
623 | V>A | No |
ClinGen Ensembl |
|
|
CA406363818 rs372960848 |
623 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406363798 rs1274611330 |
624 | P>L | No |
ClinGen gnomAD |
|
|
rs146538967 CA308951310 |
625 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1734776 rs139002770 CA9513017 |
626 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA9513016 rs369012533 |
628 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749483764 CA9513015 |
629 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs144511865 CA406363710 |
631 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9513010 rs751084702 |
631 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs751084702 CA9513011 |
631 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9513012 rs751084702 |
631 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA308951202 rs1027684347 |
632 | I>V | No |
ClinGen TOPMed |
|
|
CA308951186 rs551121547 |
634 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9513008 rs551121547 |
634 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374133290 CA9512975 |
636 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9512974 rs374133290 |
636 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773359656 CA9512976 RCV000494513 |
636 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA406363602 rs1599724778 |
638 | E>* | No |
ClinGen Ensembl |
|
|
rs1360769744 CA406363586 |
639 | Y>D | No |
ClinGen TOPMed |
|
|
rs1205109661 CA406363560 |
640 | L>P | No |
ClinGen TOPMed |
|
|
CA308950931 rs769085031 |
641 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747476170 CA9512971 |
641 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769085031 CA9512972 COSM1394592 |
641 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA406363540 rs780605359 |
642 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 642 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9512970 rs780605359 |
642 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV001092419 rs1971848694 |
643 | Q>* | No |
ClinVar dbSNP |
|
|
rs1325011325 CA406363488 |
643 | Q>H | No |
ClinGen gnomAD |
|
|
rs920483959 CA308950894 |
646 | I>T | No |
ClinGen TOPMed |
|
|
CA9512969 rs370377312 |
647 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149818919 CA406363407 |
647 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9512968 rs149818919 |
647 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9512967 rs778469146 |
648 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763885481 CA9512962 |
653 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762985501 CA9512959 |
654 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411740455 CA406363270 |
655 | D>Y | No |
ClinGen TOPMed |
|
|
CA406363240 rs1329686104 |
656 | A>D | No |
ClinGen TOPMed |
|
|
CA406363235 rs1340904003 |
657 | M>V | No |
ClinGen gnomAD |
|
|
rs761085729 CA9512953 |
660 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761085729 CA9512954 |
660 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747646421 CA308950795 |
660 | A>V | No |
ClinGen Ensembl |
|
|
CA9512951 rs772598384 |
661 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 661 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778479250 CA9512950 |
662 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778413575 CA9512949 |
662 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1435353438 CA406363065 |
664 | V>A | No |
ClinGen gnomAD |
|
|
CA9512944 rs755955616 |
665 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1233791234 RCV000513891 |
669 | R>missing | No |
ClinVar dbSNP |
|
|
rs1568531671 CA406362959 |
670 | G>S | No |
ClinGen Ensembl |
|
|
CA9512939 rs751396839 |
672 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9512938 rs200438494 |
672 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| VAR_003628 | 675 | G>R | XP-D/CS; severe form [UniProt] | No | UniProt |
|
CA9512935 rs764389114 |
677 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs760983781 CA9512934 |
678 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1408935510 CA406362751 |
679 | F>L | No |
ClinGen gnomAD |
|
|
CA406362668 rs1468398197 |
682 | K>N | No |
ClinGen TOPMed |
|
|
rs760100099 CA9512931 |
682 | K>T | No |
ClinGen ExAC |
|
|
CA9512903 rs758439420 |
683 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9512902 rs745750247 |
684 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs144277365 CA9512899 RCV001092418 |
686 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs557601608 CA9512898 |
686 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA406362511 rs557601608 |
686 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9512897 rs557601608 |
686 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144277365 CA9512900 |
686 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390225215 CA406362501 |
687 | G>E | No |
ClinGen gnomAD |
|
|
CA308950237 rs761933302 |
687 | G>R | No |
ClinGen Ensembl |
|
|
rs1260724831 CA406362474 |
688 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs537616689 CA308950228 |
690 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000120775 rs537616689 CA158776 RCV002515855 |
690 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA9512896 rs751956427 |
690 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406362426 rs1599723999 |
691 | G>R | No |
ClinGen Ensembl |
|
|
CA9512894 rs773642945 |
692 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9512890 rs746618110 |
695 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746618110 CA9512891 |
695 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9512892 rs201392911 |
695 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9512889 rs775446858 |
696 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA308950177 rs999070778 |
698 | Q>P | No |
ClinGen Ensembl |
|
|
rs771934871 CA9512888 |
700 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778708101 CA9512886 |
702 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406362249 rs1568531345 |
703 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1300465184 CA406362235 |
704 | A>T | No |
ClinGen gnomAD |
|
|
rs756273306 CA9512885 |
704 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9512884 rs140296400 |
705 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140296400 CA9512883 |
705 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406362214 rs140296400 |
705 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755217625 CA9512882 |
706 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406362202 rs755217625 |
706 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427190652 CA406362192 |
707 | N>D | No |
ClinGen gnomAD |
|
|
rs751727363 CA9512881 |
707 | N>T | No |
ClinGen ExAC |
|
|
CA406362167 rs1380605362 |
708 | L>R | No |
ClinGen gnomAD |
|
|
CA9512878 rs750996893 |
709 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9512879 rs758758729 |
709 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA406362147 rs141808167 |
710 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763610846 CA9512875 |
711 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406362125 rs1203133823 |
711 | D>V | No |
ClinGen gnomAD |
|
|
rs775212976 CA9512873 |
712 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232770408 CA406362099 |
712 | E>D | No |
ClinGen gnomAD |
|
|
CA406362111 rs775212976 |
712 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406362108 rs775212976 |
712 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329763298 CA406362091 |
713 | G>D | No |
ClinGen gnomAD |
|
|
rs1392290287 CA406362083 |
714 | V>I | No |
ClinGen gnomAD |
|
|
CA9512870 rs774392894 |
715 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA406362041 rs1407522326 |
716 | V>G | No |
ClinGen gnomAD |
|
|
CA9512869 rs770807976 |
716 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770807976 CA406362049 |
716 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994583786 CA308950036 |
717 | A>T | No |
ClinGen TOPMed |
|
|
CA406362026 rs1225327240 |
718 | K>Q | No |
ClinGen TOPMed |
|
|
CA9512867 rs533062241 |
719 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA406362003 rs1318842291 |
719 | Y>D | No |
ClinGen TOPMed |
|
|
COSM1612409 rs138569838 CA406360995 |
722 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs138569838 CA9512863 |
722 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001338562 CA9512862 rs138569838 |
722 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754313108 CA9512861 |
723 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs763701580 CA9512860 |
724 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406360969 rs1240224557 |
724 | M>V | No |
ClinGen gnomAD |
|
|
rs1427305754 COSM1525671 CA406360935 |
725 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs121913017 CA406360930 |
726 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA406360913 rs1373175045 |
726 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 727 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568531156 CA406360901 |
727 | P>T | No |
ClinGen Ensembl |
|
|
CA308948477 rs899369122 |
729 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA308948485 rs368866996 |
729 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs759412116 CA406360830 |
730 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9512857 rs759412116 |
730 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9512858 rs767253793 |
730 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201828535 CA9512816 |
732 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964383360 CA308947652 |
733 | Q>E | No |
ClinGen gnomAD |
|
|
CA406360550 rs1568530343 |
737 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 737 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199922063 CA9512814 |
739 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750251818 CA9512812 |
740 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA406360490 rs370170190 |
741 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 742 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9512809 rs201370106 |
744 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368756364 CA406360425 |
745 | E>Q | No |
ClinGen gnomAD |
|
|
rs1351814547 CA406360407 |
746 | S>A | No |
ClinGen TOPMed |
|
|
CA406360400 rs1437490326 |
746 | S>L | No |
ClinGen TOPMed |
|
|
CA9512807 rs774480587 |
747 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9512808 rs759644831 |
747 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9512804 rs373363992 |
749 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406360340 rs1226085679 |
750 | L>Q | No |
ClinGen TOPMed |
|
|
CA9512800 rs13181 |
751 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9512799 rs781762321 |
751 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9512798 rs768101288 |
753 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377739017 CA9512796 |
754 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200022901 CA406360283 |
754 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA158785 rs587778272 RCV000120778 |
755 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1217276240 CA406360228 |
757 | A>P | No |
ClinGen gnomAD |
|
|
rs1291427832 CA406360220 |
757 | A>V | No |
ClinGen gnomAD |
|
|
CA9512794 rs750018226 |
758 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA406360161 rs1414071789 |
761 | L>C | No |
ClinGen gnomAD |
|
|
CA308947509 rs966558219 |
761 | L>S | No |
ClinGen Ensembl |
No associated diseases with P18074
1 regional properties for P18074
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Major facilitator superfamily domain | 80 - 495 | IPR020846 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.12 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| CAK-ERCC2 complex | A protein complex formed by the association of the cyclin-dependent protein kinase activating kinase (CAK) holoenzyme complex with ERCC2. |
| 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. |
| MMXD complex | A protein complex that contains the proteins MMS19, MIP18 and XPD, localizes to mitotic spindle during mitosis, and is required for proper chromosome segregation. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| transcription factor TFIID complex | A complex composed of TATA binding protein (TBP) and TBP associated factors (TAFs); the total mass is typically about 800 kDa. Most of the TAFs are conserved across species. In TATA-containing promoters for RNA polymerase II (Pol II), TFIID is believed to recognize at least two distinct elements, the TATA element and a downstream promoter element. TFIID is also involved in recognition of TATA-less Pol II promoters. Binding of TFIID to DNA is necessary but not sufficient for transcription initiation from most RNA polymerase II promoters. |
| transcription factor TFIIH core complex | The 7 subunit core of TFIIH that is a part of either the general transcription factor holo-TFIIH or the nucleotide-excision repair factor 3 complex. In S. cerevisiae/humans the complex is composed of: Ssl2/XPB, Tfb1/p62, Tfb2/p52, Ssl1/p44, Tfb4/p34, Tfb5/p8 and Rad3/XPD. |
| transcription factor TFIIH holo complex | A complex that is capable of kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. It is composed of the core TFIIH complex and the TFIIK complex. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| 5'-3' DNA helicase activity | Unwinding a DNA helix in the 5' to 3' direction, driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| damaged DNA binding | Binding to damaged DNA. |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| metal ion binding | Binding to a metal ion. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| central nervous system myelin formation | The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by an oligodendrocyte in the central nervous system. |
| chromosome segregation | The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
| embryonic cleavage | The first few specialized divisions of an activated animal egg. |
| erythrocyte maturation | A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| hair cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a hair cell. |
| hair follicle maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state. |
| hematopoietic stem cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| hematopoietic stem cell proliferation | The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| nucleotide-excision repair, DNA duplex unwinding | The unwinding, or local denaturation, of the DNA duplex to create a bubble around the site of the DNA damage. |
| nucleotide-excision repair, DNA incision | A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. |
| positive regulation of DNA binding | Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
| positive regulation of mitotic recombination | Any process that activates or increases the frequency, rate or extent of DNA recombination during mitosis. |
| post-embryonic development | The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. |
| regulation of mitotic cell cycle phase transition | Any process that modulates the frequency, rate or extent of mitotic cell cycle phase transition. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| spinal cord development | The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| transcription elongation by RNA polymerase I | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase I specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase I. |
| transcription-coupled nucleotide-excision repair | The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
| UV protection | Any process in which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P06839 | RAD3 | General transcription and DNA repair factor IIH helicase subunit XPD | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A6QLJ0 | ERCC2 | General transcription and DNA repair factor IIH helicase subunit XPD | Bos taurus (Bovine) | PR |
| Q9BX63 | BRIP1 | Fanconi anemia group J protein | Homo sapiens (Human) | PR |
| O08811 | Ercc2 | General transcription and DNA repair factor IIH helicase subunit XPD | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKLNVDGLLV | YFPYDYIYPE | QFSYMRELKR | TLDAKGHGVL | EMPSGTGKTV | SLLALIMAYQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RAYPLEVTKL | IYCSRTVPEI | EKVIEELRKL | LNFYEKQEGE | KLPFLGLALS | SRKNLCIHPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTPLRFGKDV | DGKCHSLTAS | YVRAQYQHDT | SLPHCRFYEE | FDAHGREVPL | PAGIYNLDDL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KALGRRQGWC | PYFLARYSIL | HANVVVYSYH | YLLDPKIADL | VSKELARKAV | VVFDEAHNID |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NVCIDSMSVN | LTRRTLDRCQ | GNLETLQKTV | LRIKETDEQR | LRDEYRRLVE | GLREASAARE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TDAHLANPVL | PDEVLQEAVP | GSIRTAEHFL | GFLRRLLEYV | KWRLRVQHVV | QESPPAFLSG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAQRVCIQRK | PLRFCAERLR | SLLHTLEITD | LADFSPLTLL | ANFATLVSTY | AKGFTIIIEP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FDDRTPTIAN | PILHFSCMDA | SLAIKPVFER | FQSVIITSGT | LSPLDIYPKI | LDFHPVTMAT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FTMTLARVCL | CPMIIGRGND | QVAISSKFET | REDIAVIRNY | GNLLLEMSAV | VPDGIVAFFT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SYQYMESTVA | SWYEQGILEN | IQRNKLLFIE | TQDGAETSVA | LEKYQEACEN | GRGAILLSVA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RGKVSEGIDF | VHHYGRAVIM | FGVPYVYTQS | RILKARLEYL | RDQFQIREND | FLTFDAMRHA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AQCVGRAIRG | KTDYGLMVFA | DKRFARGDKR | GKLPRWIQEH | LTDANLNLTV | DEGVQVAKYF |
| 730 | 740 | 750 | |||
| LRQMAQPFHR | EDQLGLSLLS | LEQLESEETL | KRIEQIAQQL |