Q13415
PR
Gene name |
ORC1 (ORC1L, PARC1) |
Protein name |
Origin recognition complex subunit 1 |
Names |
Replication control protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4998 |
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
10 structures for Q13415
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5UJ7 | X-ray | 339 A | A/B | 471-861 | PDB |
| 5UJM | EM | 1800 A | A | 471-861 | PDB |
| 6P3W | X-ray | 254 A | E/F | 233-239 | PDB |
| 7CTF | EM | 480 A | A | 1-861 | PDB |
| 7CTG | EM | 500 A | A | 1-861 | PDB |
| 7JPO | EM | 320 A | A | 471-861 | PDB |
| 7JPP | EM | 370 A | A | 471-861 | PDB |
| 7JPR | EM | 400 A | A | 471-861 | PDB |
| 7JPS | EM | 440 A | A | 471-861 | PDB |
| AF-Q13415-F1 | Predicted | AlphaFoldDB |
716 variants for Q13415
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000513920 RCV000246237 RCV000347437 rs3087473 CA853695 VAR_014507 |
19 | R>S | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs182707743 RCV001414367 RCV001100137 CA853672 |
51 | Q>E | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001336638 rs1647490038 |
80 | P>missing | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000023155 RCV002513182 CA129043 rs387906827 VAR_065481 |
89 | F>S | Meier-gorlin syndrome 1 (mgors1) Meier-Gorlin syndrome 1 MGORS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA853631 RCV001098349 rs370667339 RCV002554923 |
97 | A>S | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001382828 RCV000023156 VAR_065482 rs143141689 CA129045 RCV000302017 |
105 | R>Q | Meier-gorlin syndrome 1 (mgors1) Meier-Gorlin syndrome Meier-Gorlin syndrome 1 MGORS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA129041 RCV000023154 rs387906826 VAR_065483 |
127 | E>G | Meier-gorlin syndrome 1 (mgors1) Meier-Gorlin syndrome 1 MGORS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10610087 rs886046399 RCV000341759 |
131 | G>V | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000341764 rs753124340 CA853569 |
179 | P>T | Variant assessed as Somatic; 0.0 impact. Meier-Gorlin syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA853567 VAR_014508 RCV001096628 rs3087482 RCV000515091 |
180 | Q>H | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003160617 RCV001096627 CA853564 rs760479580 |
186 | C>R | Meier-Gorlin syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_014509 RCV000117880 CA154202 RCV000284372 rs3087477 RCV000870508 |
190 | V>M | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001857137 rs202095223 RCV000500202 CA853553 RCV000660447 |
203 | T>I | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000376527 RCV000117881 rs61753390 RCV000870516 CA154204 |
269 | S>L | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3667697 RCV001096626 rs1291867337 CA340359618 |
270 | E>K | liver Meier-Gorlin syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs994616612 CA22518617 RCV001096625 |
304 | T>I | Variant assessed as Somatic; impact. Meier-Gorlin syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs772037188 RCV001336639 COSM1197041 CA853483 |
312 | P>S | lung Meier-Gorlin syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340358728 rs1300402859 RCV001096624 |
342 | G>V | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA154190 VAR_014510 rs3087476 RCV001512736 RCV001102029 RCV000117871 |
372 | A>V | Meier-gorlin syndrome 1 (mgors1) Meier-Gorlin syndrome 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs576163345 CA853420 RCV000328770 |
380 | R>L | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001102028 RCV000194995 CA209539 rs114426997 RCV000873965 |
396 | R>W | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001102027 RCV001856392 CA853398 rs201805499 |
399 | G>D | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000994001 CA206551 RCV000193217 rs61756136 RCV001102026 |
440 | S>P | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_014513 rs3087481 CA154194 RCV000117873 RCV001514775 RCV000382251 |
466 | T>M | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144848215 CA853337 RCV001100038 RCV000907437 |
469 | C>R | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000117874 VAR_014514 RCV000325263 CA154196 RCV000864304 rs3087483 |
469 | C>Y | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002520499 RCV000277078 COSM3805543 rs886046397 CA10610425 |
477 | R>Q | Variant assessed as Somatic; 0.0 impact. breast Inborn genetic diseases Meier-Gorlin syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs141749112 RCV002554951 CA853321 RCV002558008 RCV001100037 |
489 | E>V | Inborn genetic diseases Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1647126216 RCV001329179 |
528 | G>R | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001100036 RCV001856357 rs148581880 RCV002556023 CA853251 |
549 | R>C | Meier-Gorlin syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA853229 rs547441862 RCV001098267 RCV000896822 |
582 | Q>R | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000273625 CA853202 RCV000871104 rs139027440 RCV001820857 |
607 | T>A | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569920188 CA340351143 RCV000791113 |
655 | T>I | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201253919 CA129049 RCV000023160 RCV001852014 VAR_065484 |
666 | R>W | Meier-gorlin syndrome 1 (mgors1) Meier-Gorlin syndrome 1 MGORS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000023158 rs1557573504 |
667 | V>missing | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000023157 rs387906828 RCV001818177 VAR_065485 CA129047 |
720 | R>Q | Meier-gorlin syndrome 1 (mgors1) Meier-Gorlin syndrome 1 MGORS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000870838 rs142127656 RCV003132112 CA853100 |
721 | R>Q | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001386973 CA913189313 rs1557567563 RCV000778985 |
742 | S>* | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs61753389 RCV000509535 RCV000870938 CA853057 RCV000501625 |
772 | V>I | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886046396 RCV000397459 CA10610083 |
802 | H>Y | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001096523 CA340344141 rs1222973227 |
812 | P>L | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000117877 rs34521609 RCV000304858 VAR_050426 RCV001511695 CA154200 |
816 | M>T | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA853010 rs781559609 RCV001293703 |
828 | S>F | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1646957193 RCV001293703 |
829 | C>missing | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA852998 RCV001096522 rs767264406 |
846 | R>W | Variant assessed as Somatic; 0.0 impact. Meier-Gorlin syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA852993 RCV002554896 RCV001096521 rs184915457 |
857 | A>V | Meier-Gorlin syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA340366814 rs1264010214 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA340366811 rs1348967000 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs146333732 CA853704 |
3 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146333732 CA853702 |
3 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853703 rs146333732 |
3 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356760932 CA340366794 |
5 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751628938 CA853701 |
5 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA340366789 rs1215224327 |
6 | T>A | No |
ClinGen gnomAD |
|
|
CA340366785 rs1385792341 |
6 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 6 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340366772 rs1178780076 |
9 | K>Q | No |
ClinGen gnomAD |
|
|
rs1161193587 CA340366743 |
13 | T>A | No |
ClinGen TOPMed |
|
|
CA340366740 rs1348794249 |
13 | T>S | No |
ClinGen TOPMed |
|
|
CA736806600 rs1290247294 |
14 | Y>* | No |
ClinGen TOPMed |
|
|
CA853697 rs765136006 |
15 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176379478 CA340366716 |
16 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA853696 rs759344414 |
17 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770603666 CA853694 |
23 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM191325 rs1263248699 CA340366670 |
24 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA340366671 rs1263248699 |
24 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340366669 rs1224929934 |
24 | R>Q | No |
ClinGen gnomAD |
|
|
CA22527597 rs972590050 |
26 | L>V | No |
ClinGen Ensembl |
|
|
CA340366650 rs1248787400 |
27 | H>R | No |
ClinGen TOPMed |
|
|
rs1289766387 CA340366642 |
28 | Y>C | No |
ClinGen TOPMed |
|
|
CA853693 rs746678541 |
29 | Q>R | No |
ClinGen ExAC |
|
|
CA853692 rs772643977 |
30 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771602254 CA853691 |
31 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1224668630 CA340366619 |
32 | R>G | No |
ClinGen gnomAD |
|
|
CA22527118 rs1049381810 |
33 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA22527114 rs894548961 |
35 | C>F | No |
ClinGen TOPMed |
|
|
rs894548961 CA340366580 |
35 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758529447 CA853678 |
38 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340366557 rs1216068347 |
39 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA22527095 rs1048133661 |
41 | C>G | No |
ClinGen Ensembl |
|
|
CA853677 rs201614313 |
42 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA340366526 rs1448307641 |
44 | E>K | No |
ClinGen TOPMed |
|
|
CA853675 rs759449048 |
45 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246556960 CA340366503 |
47 | I>V | No |
ClinGen TOPMed |
|
|
rs766094257 CA853673 |
49 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764805666 CA340366472 |
51 | Q>H | No |
ClinGen Ensembl |
|
|
CA853671 rs76966719 |
51 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA340366378 rs1557587126 |
57 | G>A | No |
ClinGen Ensembl |
|
|
CA853670 rs200774303 |
58 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA22527024 rs925076603 |
59 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340366330 rs1346706870 |
60 | D>G | No |
ClinGen gnomAD |
|
|
rs1318374818 CA340366300 |
62 | N>Y | No |
ClinGen TOPMed |
|
|
CA340366285 rs1162398068 |
63 | P>A | No |
ClinGen gnomAD |
|
|
rs978048793 CA22527023 |
63 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs367621213 CA22527005 |
64 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1260748024 CA340366224 |
67 | K>T | No |
ClinGen TOPMed |
|
|
rs757581044 CA853664 |
72 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs373671398 CA853662 |
73 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340366104 rs1360700383 |
74 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340366096 rs1294503158 |
75 | D>N | No |
ClinGen gnomAD |
|
|
rs368625910 CA853641 |
78 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539487774 CA853640 |
78 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA853639 rs149647925 |
79 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22524367 rs149647925 |
79 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853638 rs375700235 |
83 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426607091 CA340365062 |
83 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs750208642 CA340365040 |
85 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA853636 rs750208642 |
85 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA853635 rs147105653 |
85 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22524298 rs147105653 |
85 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA853634 rs761411625 |
86 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA340365033 rs1180440387 |
86 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1180440387 COSM1602532 CA340365031 |
86 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA22524281 rs112732025 |
87 | Q>R | No |
ClinGen gnomAD |
|
|
rs1198087565 CA340365007 |
88 | W>R | No |
ClinGen gnomAD |
|
|
rs1219110795 CA340364979 |
90 | V>I | No |
ClinGen TOPMed |
|
|
CA853633 rs141971656 |
91 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 91 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA853632 rs763852890 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188375978 CA340364954 |
92 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA340364888 rs370667339 |
97 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771550930 CA853629 |
100 | R>Q | Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA22524251 rs146970307 |
100 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773643355 CA340364815 |
102 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA231360 RCV000117870 rs587780410 |
103 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA853625 rs748355716 |
104 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778980446 CA340364785 |
105 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA853622 rs780169538 |
109 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295971905 CA340364712 |
111 | E>K | No |
ClinGen TOPMed |
|
|
rs755990358 CA853621 |
112 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs745814023 CA853620 |
113 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399853306 CA736803712 |
114 | W>* | No |
ClinGen TOPMed |
|
|
CA853619 rs377656537 |
114 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs983340949 CA22524191 |
114 | W>S | No |
ClinGen Ensembl |
|
|
rs146519429 CA853617 |
116 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853618 rs757021916 |
116 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA853616 rs763646880 |
118 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA853615 rs144124555 |
118 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340364604 rs1351497876 |
119 | A>D | No |
ClinGen TOPMed |
|
|
CA340364554 rs1242332740 |
123 | N>D | No |
ClinGen TOPMed |
|
|
CA340364536 rs1380458000 |
124 | I>F | No |
ClinGen gnomAD |
|
|
CA853613 rs764843089 |
126 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1026479874 CA22524086 |
127 | E>D | No |
ClinGen Ensembl |
|
|
CA340364496 rs1488085160 |
127 | E>K | No |
ClinGen TOPMed |
|
|
CA340364484 rs1407658017 |
128 | T>A | No |
ClinGen gnomAD |
|
|
CA853611 rs773878425 |
128 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs768190281 CA853610 |
129 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160628744 CA340364453 |
130 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340364455 rs1160628744 |
130 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA22524073 rs982933125 |
131 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774848454 CA853609 |
134 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000117879 COSM369111 rs587780413 CA231366 |
134 | R>W | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs552094777 CA853585 |
136 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340364218 rs1271506959 |
139 | A>T | No |
ClinGen gnomAD |
|
|
rs1346796459 CA340364193 |
140 | P>A | No |
ClinGen gnomAD |
|
|
rs776746652 CA853584 |
140 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770713995 CA853583 |
142 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22523205 rs984355836 |
144 | V>I | No |
ClinGen TOPMed |
|
|
CA340364081 rs1407195060 |
145 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200422610 COSM1737358 CA853582 |
146 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 149 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA853579 rs369677056 |
150 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA853578 rs778678939 |
151 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs753388005 CA853576 |
153 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1430297680 CA340363920 |
153 | T>P | No |
ClinGen gnomAD |
|
|
rs1489375114 CA340363847 |
156 | V>A | No |
ClinGen gnomAD |
|
|
rs952948736 CA22523176 |
160 | W>* | No |
ClinGen Ensembl |
|
|
CA853573 rs757642501 |
163 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA340363595 rs1569949027 |
168 | L>P | No |
ClinGen Ensembl |
|
|
CA340363557 rs1259465919 COSM459064 |
170 | S>L | cervix [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1424281116 CA340363524 |
172 | L>P | No |
ClinGen TOPMed |
|
|
CA853571 rs764553903 |
174 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764553903 CA340363487 |
174 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853572 rs764553903 |
174 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3805545 CA340363440 rs1221288858 |
176 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA853568 rs765429873 |
179 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340363380 rs1443587167 |
180 | Q>* | No |
ClinGen gnomAD |
|
|
rs776623839 CA340363333 |
182 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA853566 rs776623839 |
182 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA340363312 rs1469401673 |
183 | A>T | No |
ClinGen gnomAD |
|
|
rs1407100507 CA340363293 |
183 | A>V | No |
ClinGen gnomAD |
|
|
rs771074009 CA853565 |
184 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs773179936 CA853563 |
187 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs771944224 CA853562 |
189 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs958011483 CA22523149 |
192 | A>T | No |
ClinGen TOPMed |
|
|
rs768368425 CA853560 |
193 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA853559 rs201737703 RCV001344668 |
193 | K>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs755675689 CA853557 |
194 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs755675689 CA340363081 |
194 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA853558 rs779395679 |
194 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA340363039 rs1315449523 |
196 | S>G | No |
ClinGen gnomAD |
|
|
rs749937257 CA853556 |
196 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA22523131 rs778334872 |
197 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853555 rs778334872 |
197 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778334872 CA22523126 |
197 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340362951 rs1184052027 |
200 | P>L | No |
ClinGen TOPMed |
|
|
rs758959309 CA853554 |
202 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA340362927 rs1208478639 |
202 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759713293 CA853551 |
204 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759713293 CA853552 |
204 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340362884 rs1179523368 |
204 | P>T | No |
ClinGen TOPMed |
|
|
rs754111072 CA853550 |
205 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553148123 CA340362773 RCV000500003 |
209 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA340362744 rs1158076302 |
210 | K>* | No |
ClinGen gnomAD |
|
|
CA340362747 rs1158076302 |
210 | K>E | No |
ClinGen gnomAD |
|
|
CA340362727 rs1417123240 |
211 | R>G | No |
ClinGen TOPMed |
|
|
rs760777776 CA22523072 |
211 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340362646 rs1359730416 |
213 | E>Q | No |
ClinGen TOPMed |
|
|
CA853547 rs773234327 |
216 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340362567 rs773234327 |
216 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772034633 CA853546 |
218 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446812147 CA340362517 |
218 | A>V | No |
ClinGen TOPMed |
|
|
rs188004883 CA853544 |
220 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA853543 rs768606917 |
222 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340362422 rs1356380219 |
223 | Q>E | No |
ClinGen gnomAD |
|
|
rs563322422 CA853542 |
223 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375125827 CA853540 |
224 | T>I | No |
ClinGen ESP ExAC |
|
|
rs780578061 CA853538 |
225 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224852075 CA340362323 |
226 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA853536 rs773394213 |
228 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA340362251 rs1361513743 |
229 | L>F | No |
ClinGen gnomAD |
|
|
RCV001321500 rs1647378558 |
230 | T>N | No |
ClinVar dbSNP |
|
|
rs1400311570 CA340362224 |
230 | T>S | No |
ClinGen gnomAD |
|
|
CA340362208 rs1306758593 |
231 | P>A | No |
ClinGen TOPMed |
|
|
CA340362172 rs1313082031 |
232 | R>I | No |
ClinGen TOPMed |
|
|
RCV000194369 CA208500 rs797045851 |
235 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755313491 CA853534 |
235 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs1299962289 CA340362049 COSM426440 |
238 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 240 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170886829 CA340360006 |
244 | N>S | No |
ClinGen gnomAD |
|
|
rs1481169987 CA340359984 |
245 | P>R | No |
ClinGen TOPMed |
|
|
rs755546489 CA853517 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA22518914 rs201227247 |
246 | Q>R | No |
ClinGen Ensembl |
|
|
rs749652476 CA853516 |
248 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs780298065 CA853515 |
249 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA853514 rs137952013 |
250 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767660355 CA853512 |
253 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1251992413 CA340359843 |
254 | A>T | No |
ClinGen gnomAD |
|
|
rs751751703 CA853510 |
255 | S>F | No |
ClinGen ExAC |
|
|
CA853509 rs764106868 |
257 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1282949960 CA340359776 |
258 | S>F | No |
ClinGen gnomAD |
|
|
CA853507 rs138474079 CA853508 |
260 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA853505 rs759178339 |
262 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA853506 rs764971476 |
262 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340359709 rs1188329543 |
263 | K>I | No |
ClinGen gnomAD |
|
|
CA853503 rs371746730 |
264 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853504 rs181880288 |
264 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs760173550 CA853502 |
268 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1175270856 CA340359586 |
271 | I>M | No |
ClinGen gnomAD |
|
|
CA853500 rs749766158 |
273 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA340359562 rs1180230657 |
274 | P>S | No |
ClinGen gnomAD |
|
|
rs1557581364 CA340359543 |
275 | S>F | No |
ClinGen Ensembl |
|
|
CA340359530 rs1418971693 |
276 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 277 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145602948 CA853497 |
280 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA853498 rs145602948 |
280 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340359434 rs1460091603 |
285 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340359438 rs1460091603 |
285 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340359421 rs1262678507 |
286 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 287 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746875132 CA22518701 |
288 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs552278270 CA853495 |
291 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 294 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986424506 CA22518677 |
296 | T>P | No |
ClinGen TOPMed |
|
|
CA853494 rs527749082 |
297 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340359251 rs1335073823 |
298 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA853492 rs140388455 |
301 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853490 rs373857123 |
302 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340359190 rs373857123 |
302 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853487 rs753698719 |
303 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853488 rs370792026 |
303 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853486 rs766003436 |
304 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA22518604 rs897577355 |
307 | D>H | No |
ClinGen TOPMed |
|
|
CA340359048 rs1407608389 |
311 | S>L | No |
ClinGen TOPMed |
|
|
CA853482 rs541977930 |
312 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340359006 rs1444312826 |
314 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340359010 rs1444312826 |
314 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV001340093 RCV000192604 CA205531 rs201265198 COSM910658 |
315 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM681799 CA853480 rs770377110 |
315 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA853479 rs148708406 |
316 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340358980 rs1242251262 |
316 | I>M | No |
ClinGen gnomAD |
|
|
rs1056071538 CA22518562 |
316 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1343377 CA853478 rs781697693 |
317 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA853476 COSM910656 rs367611068 |
321 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs760043916 CA22518506 |
321 | R>Q | No |
ClinGen gnomAD |
|
|
rs747263884 CA340358911 |
322 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA853475 rs747263884 |
322 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA853474 rs777948211 |
323 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1361593113 CA340358871 |
325 | S>L | No |
ClinGen gnomAD |
|
|
CA853471 rs778710571 |
328 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA736800697 rs1289023481 |
329 | D>A | No |
ClinGen TOPMed |
|
|
CA853470 rs755000631 |
329 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340358793 rs1473850973 |
332 | E>* | No |
ClinGen gnomAD |
|
|
CA853468 rs766168395 |
332 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1487810931 CA340358780 |
334 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA853466 rs750100690 |
336 | L>F | No |
ClinGen ExAC |
|
|
rs1263670081 CA340358758 |
337 | T>S | No |
ClinGen gnomAD |
|
|
rs761202255 CA853464 |
338 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1289129427 CA340358752 |
338 | P>L | No |
ClinGen gnomAD |
|
|
rs761202255 CA340358756 |
338 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA853462 rs765601249 |
340 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA853461 rs760121287 |
340 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226271716 CA340358735 |
341 | G>E | No |
ClinGen gnomAD |
|
|
rs1300402859 CA340358729 |
342 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs940805887 CA22518313 |
344 | R>T | No |
ClinGen Ensembl |
|
|
rs1324785514 CA340358690 |
348 | V>A | No |
ClinGen gnomAD |
|
|
CA340358676 rs771442415 |
351 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001320615 rs771442415 CA853458 |
351 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1167515847 CA340358649 |
355 | P>T | No |
ClinGen gnomAD |
|
|
CA340358618 rs1426103764 |
359 | K>R | No |
ClinGen gnomAD |
|
|
CA22518273 TCGA novel rs79465637 |
360 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1254965230 CA340358606 |
361 | R>G | No |
ClinGen gnomAD |
|
|
CA22518260 rs913318852 |
361 | R>K | No |
ClinGen TOPMed |
|
|
CA853434 rs749421827 |
363 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 365 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA853431 rs745641127 |
367 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA853430 rs781040769 |
372 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA853427 rs757960907 |
373 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA340358288 rs1569933985 |
373 | T>P | No |
ClinGen Ensembl |
|
|
CA340358281 rs1275559491 |
374 | S>C | No |
ClinGen TOPMed |
|
|
rs545372395 CA853426 |
375 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA853425 rs143342160 |
375 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340358279 rs545372395 |
375 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199920629 CA853424 |
376 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369381928 CA22514692 |
377 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs904453326 CA22514679 |
377 | H>Q | No |
ClinGen Ensembl |
|
|
rs369381928 CA853423 |
377 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769313282 CA853422 |
378 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1239496219 CA340358263 |
378 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761899508 CA853421 |
380 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs576163345 CA853419 |
380 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA853417 rs775610496 |
381 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA853416 rs200018508 |
384 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1199481237 CA340358219 |
385 | V>A | No |
ClinGen TOPMed |
|
|
rs978345172 CA22514610 |
388 | M>I | No |
ClinGen TOPMed |
|
|
rs1476760968 CA340358203 |
388 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs150686281 CA853413 |
390 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780813183 CA853414 |
390 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA22514608 rs113462528 |
392 | R>K | No |
ClinGen Ensembl |
|
|
rs1466817992 CA340358156 |
395 | L>I | No |
ClinGen TOPMed |
|
|
CA853410 rs752188468 |
396 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249978193 CA340358126 COSM163194 |
398 | L>V | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA853397 rs556908265 |
401 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557577735 CA916176222 |
401 | S>K | No |
ClinGen Ensembl |
|
|
CA22514202 rs200594811 |
401 | S>N | No |
ClinGen TOPMed |
|
|
CA853396 rs770834117 |
401 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA22514197 rs572356769 |
403 | S>G | No |
ClinGen Ensembl |
|
|
CA340358080 rs1291717816 |
405 | Q>E | No |
ClinGen gnomAD |
|
|
CA853394 rs777716760 |
411 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448929957 CA340358020 |
412 | P>S | No |
ClinGen Ensembl |
|
|
CA853391 rs778525482 |
413 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA853393 rs747825400 |
413 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853392 rs747825400 |
413 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748796277 CA853390 |
414 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340357942 rs1569932502 |
416 | I>N | No |
ClinGen Ensembl |
|
|
rs1267305503 CA340357894 |
418 | D>E | No |
ClinGen gnomAD |
|
|
CA853389 rs559760587 |
419 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757767270 CA853388 |
420 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340357825 rs1267264837 |
421 | S>G | No |
ClinGen gnomAD |
|
|
CA853387 rs764468521 |
422 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758583045 CA853385 |
423 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853384 rs752888915 |
424 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA340357667 rs1218943484 |
425 | E>G | No |
ClinGen gnomAD |
|
|
rs765429397 CA853382 |
426 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340357628 rs1388037513 |
426 | A>T | No |
ClinGen TOPMed |
|
|
CA340357582 rs1368268721 |
427 | S>F | No |
ClinGen gnomAD |
|
|
CA853378 rs766273256 |
429 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22514077 rs770664020 |
430 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1467460972 CA340357442 |
432 | P>R | No |
ClinGen gnomAD |
|
|
rs773092799 CA853376 |
433 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs747995537 CA853374 COSM177857 |
434 | R>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA853375 rs747995537 |
434 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA853373 rs181982557 |
438 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs894791552 CA22514014 |
441 | R>G | No |
ClinGen TOPMed |
|
|
rs3087472 VAR_014511 CA853372 |
441 | R>M | No |
ClinGen UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
CA340357159 rs1457373378 |
444 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs779430952 CA853371 COSM273061 |
444 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 446 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253994398 CA340356980 |
451 | L>F | No |
ClinGen gnomAD |
|
|
CA853369 rs747550939 |
451 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA853368 rs778296863 |
452 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778296863 CA340356958 |
452 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22513967 rs748467133 |
453 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 453 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22513957 rs758742811 |
454 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853367 rs758742811 |
454 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853366 COSM1343374 rs753121823 |
455 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA22513953 rs3087470 VAR_014512 |
456 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
|
CA853363 rs753899074 |
457 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs755161107 CA853364 |
457 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA340356827 rs1448488688 |
459 | K>E | No |
ClinGen gnomAD |
|
|
rs766392601 CA853362 |
459 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340356792 rs773252423 |
460 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853361 rs150154319 |
460 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867822211 CA22513923 |
461 | S>N | No |
ClinGen TOPMed |
|
|
rs867822211 CA340356779 |
461 | S>T | No |
ClinGen TOPMed |
|
|
rs1462572698 CA340356027 |
463 | K>M | No |
ClinGen TOPMed |
|
|
rs750587300 CA853341 |
464 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA340356000 rs1353660876 |
466 | T>P | No |
ClinGen gnomAD |
|
|
rs751306629 CA853339 |
467 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs141623460 CA853338 COSM910653 |
468 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs3087483 CA340355967 |
469 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300591012 CA340355960 |
470 | A>T | No |
ClinGen gnomAD |
|
|
CA853335 rs150059660 |
471 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853334 rs150059660 |
471 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200767829 CA22511771 |
472 | P>L | No |
ClinGen 1000Genomes |
|
|
CA22511772 rs780650369 |
472 | P>S | No |
ClinGen gnomAD |
|
|
CA22511770 rs200248856 |
473 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs1473881898 CA340355907 |
474 | I>M | No |
ClinGen gnomAD |
|
|
rs142492205 CA853332 |
475 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853333 rs142492205 |
475 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853331 rs137944510 |
475 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340355891 rs1300141147 |
476 | S>N | No |
ClinGen TOPMed |
|
|
CA22511731 rs946676889 |
478 | S>N | No |
ClinGen Ensembl |
|
|
rs749709845 CA853329 |
478 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA340355855 rs1287540797 |
479 | L>Q | No |
ClinGen gnomAD |
|
|
CA340355817 rs1288488377 |
482 | Q>H | No |
ClinGen gnomAD |
|
|
rs756469299 CA853327 |
482 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1209962752 CA340355802 |
483 | E>D | No |
ClinGen gnomAD |
|
|
rs771676941 CA22511702 |
484 | P>A | No |
ClinGen gnomAD |
|
|
rs771676941 CA340355797 |
484 | P>S | No |
ClinGen gnomAD |
|
|
CA853325 rs781431785 |
486 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs368524345 CA22511657 |
487 | V>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA853324 rs757208631 |
487 | V>M | No |
ClinGen ExAC |
|
|
rs11585135 CA22511633 |
488 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA853322 rs11585135 |
488 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1398291284 CA340355707 |
492 | R>* | No |
ClinGen gnomAD |
|
|
CA853320 rs149110528 |
492 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853303 rs752378828 |
498 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA22511084 rs374470297 |
500 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs765041447 CA853301 |
500 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753457975 CA853299 |
502 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22511067 rs950640843 |
504 | L>R | No |
ClinGen TOPMed |
|
|
rs900605952 CA22511062 |
505 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs147904927 CA340355247 |
506 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147904927 RCV001327359 RCV000194450 CA208628 |
506 | C>Y | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA853298 rs760090834 |
507 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22511041 rs1002506669 |
507 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA340355233 rs1569924782 |
509 | Q>K | No |
ClinGen Ensembl |
|
|
rs942079227 CA22511016 |
509 | Q>R | No |
ClinGen Ensembl |
|
|
rs1241033692 CA340355202 |
513 | D>N | No |
ClinGen gnomAD |
|
|
rs527750995 CA853297 |
514 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340355184 rs1301323966 |
515 | Y>C | No |
ClinGen gnomAD |
|
|
CA340355180 rs1350257803 |
516 | N>D | No |
ClinGen TOPMed |
|
|
rs764441009 CA853296 |
516 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763526918 CA853295 |
520 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1304094583 CA340355132 |
522 | L>H | No |
ClinGen TOPMed |
|
|
rs1569924651 CA340355128 |
523 | L>F | No |
ClinGen Ensembl |
|
|
CA22511009 rs938966323 |
525 | H>R | No |
ClinGen Ensembl |
|
|
CA853290 rs771253926 |
527 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs371090170 CA853291 |
527 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853261 rs756781474 |
530 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780743778 CA853262 |
530 | M>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 531 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358865090 CA340354986 |
532 | I>L | No |
ClinGen TOPMed |
|
|
CA340354984 rs1358865090 |
532 | I>V | No |
ClinGen TOPMed |
|
|
CA340354963 rs1430643858 |
533 | S>F | No |
ClinGen TOPMed |
|
|
rs142990704 CA853259 |
534 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1277436567 CA340354937 |
536 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA853258 rs760137346 |
537 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754207878 CA853257 |
538 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766798696 CA853256 |
539 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA853254 rs376595809 |
540 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376595809 CA853255 |
540 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1166664265 CA340354871 |
542 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 542 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 543 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA853253 rs772240507 |
543 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA853252 rs761876179 |
545 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA853250 rs768521500 |
549 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768521500 CA340354775 |
549 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs749242682 CA853249 |
550 | C>Y | No |
ClinGen ExAC |
|
|
CA340354752 rs1190684625 |
552 | Q>K | No |
ClinGen gnomAD |
|
|
CA340354739 rs1488853192 |
552 | Q>P | No |
ClinGen gnomAD |
|
|
CA22510376 rs941339968 |
553 | Q>H | No |
ClinGen TOPMed |
|
|
rs1569923186 CA340354683 |
556 | Q>K | No |
ClinGen Ensembl |
|
|
rs199879890 CA853245 |
558 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756977880 CA853244 |
559 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1557574632 CA340354544 |
560 | V>A | No |
ClinGen Ensembl |
|
|
rs34094027 CA853243 |
561 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340354513 rs1360534033 |
562 | P>A | No |
ClinGen gnomAD |
|
|
rs755501953 COSM3805542 CA340354447 |
564 | Q>E | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA853241 rs755501953 |
564 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22510297 rs1006020201 |
566 | I>T | No |
ClinGen Ensembl |
|
|
rs368689090 CA853239 |
566 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340354336 rs1327458814 |
567 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 568 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761089412 CA853238 |
568 | V>I | No |
ClinGen ExAC |
|
|
CA22510262 rs990235901 |
570 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA853237 rs750818076 |
571 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA853236 rs767710104 |
574 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764186249 CA853233 |
576 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA853234 rs774364045 |
576 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557574510 CA340354038 |
578 | Q>* | No |
ClinGen Ensembl |
|
|
rs763057215 CA853232 |
579 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763057215 CA340353987 |
579 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs775474003 CA853231 |
580 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769674028 CA853230 |
581 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22510180 rs998590607 |
582 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1481500033 CA340353876 |
585 | Q>E | No |
ClinGen gnomAD |
|
|
rs775440064 CA853213 |
588 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759418497 CA853212 |
588 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853211 rs759418497 |
588 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776450212 CA853210 |
590 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 592 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340353469 rs1240700871 |
593 | T>I | No |
ClinGen gnomAD |
|
|
rs1488648962 CA340353480 |
593 | T>S | No |
ClinGen TOPMed |
|
|
CA22509780 rs933618089 |
596 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770819037 CA853209 |
596 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs148063786 CA22509752 |
597 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746849282 CA853208 |
597 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM384697 rs148063786 CA853207 |
597 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA340353355 rs1357838474 |
598 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 598 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22509718 rs922366377 |
599 | E>G | No |
ClinGen TOPMed |
|
|
rs560232513 CA853206 |
601 | L>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs560232513 CA22509691 |
601 | L>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs747626187 CA853205 |
602 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA853204 rs778297628 |
604 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22509664 rs778853842 |
605 | F>V | No |
ClinGen Ensembl |
|
|
CA340353207 rs1368174201 COSM1218899 |
608 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA853200 rs964590065 |
608 | R>Q | No |
ClinGen TOPMed |
|
|
CA853199 rs781691049 |
609 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340353119 rs1475416935 |
615 | T>S | No |
ClinGen gnomAD |
|
|
CA853198 rs757592121 |
616 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA853196 rs574601332 |
619 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751976743 CA853197 |
619 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs201622141 | 622 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340351912 rs1569920569 |
623 | D>A | No |
ClinGen Ensembl |
|
|
CA853178 rs187710420 COSM1343372 |
623 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs187710420 CA853177 |
623 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199799847 CA340351812 |
626 | W>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA22509362 rs199799847 |
626 | W>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA340351795 rs1290182549 |
627 | T>S | No |
ClinGen TOPMed |
|
|
rs779245421 CA853176 |
628 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933667887 CA22509350 |
629 | K>R | No |
ClinGen TOPMed |
|
|
CA340351724 rs1443344723 |
630 | Q>* | No |
ClinGen gnomAD |
|
|
rs1569920462 CA340351691 |
631 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 631 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754999613 CA853175 |
632 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA340351594 rs1313376435 |
634 | Y>F | No |
ClinGen TOPMed |
|
|
CA853173 rs766354299 |
635 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA853172 rs760700296 |
636 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340351414 rs1279109042 |
642 | H>Q | No |
ClinGen TOPMed |
|
|
rs1393923275 CA340351371 |
644 | E>G | No |
ClinGen gnomAD |
|
|
CA853170 rs182725706 |
645 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA853169 rs761707100 |
646 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM464741 CA22509284 rs537583215 |
646 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs762363402 CA853166 |
651 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs768409508 CA853167 |
651 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs150460375 CA853165 |
652 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853164 rs150460375 |
652 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340351137 rs1172031547 |
656 | M>V | No |
ClinGen TOPMed |
|
|
CA340351096 rs1236674010 |
657 | D>Y | No |
ClinGen gnomAD |
|
|
rs778295204 CA853162 |
658 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA853160 rs555080991 |
659 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779000600 CA340350985 |
661 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA853159 rs779000600 |
661 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA853158 rs755233699 RCV001337459 |
663 | M>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs753910439 CA853157 |
664 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA340350926 rs1374837123 |
664 | M>T | No |
ClinGen gnomAD |
|
|
CA340350884 rs1455196998 |
665 | N>K | No |
ClinGen gnomAD |
|
|
rs918861075 CA22509169 |
666 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs918861075 CA340350871 |
666 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs756075567 CA853156 |
670 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234934732 CA340350770 COSM535635 |
670 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA340350764 rs1369137405 |
671 | L>V | No |
ClinGen TOPMed |
|
|
CA853137 rs745997915 |
672 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA853136 rs780982993 |
674 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs780982993 CA340350453 |
674 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA853134 rs751251968 |
676 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1162282902 CA340350424 |
676 | M>R | No |
ClinGen gnomAD |
|
|
CA340350399 rs1461213574 |
678 | F>L | No |
ClinGen gnomAD |
|
|
CA22507515 rs1027041369 |
679 | Q>H | No |
ClinGen gnomAD |
|
|
CA853133 rs763983725 |
679 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1557572223 CA340350310 |
682 | T>I | No |
ClinGen Ensembl |
|
|
CA340350290 rs1187115382 |
683 | Y>F | No |
ClinGen gnomAD |
|
|
CA340350302 rs1261721297 |
683 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340350304 rs1261721297 |
683 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752327175 CA853131 |
684 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22507477 rs897178070 |
687 | Q>* | No |
ClinGen TOPMed |
|
|
rs897178070 CA340350230 |
687 | Q>K | No |
ClinGen TOPMed |
|
|
CA340350210 rs1189237436 |
688 | Q>* | No |
ClinGen TOPMed |
|
|
rs1036992144 CA22507468 |
688 | Q>R | No |
ClinGen Ensembl |
|
|
CA22507465 rs375109790 |
691 | R>T | No |
ClinGen ESP TOPMed |
|
|
rs578112635 CA853128 |
693 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA853129 rs759043194 |
693 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340349438 rs1557572127 |
694 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 697 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 697 | L>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762403245 CA853126 |
699 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs373198161 CA853124 |
702 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853125 rs184314414 |
702 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 703 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439677174 CA340349158 |
706 | Q>R | No |
ClinGen gnomAD |
|
|
rs147351223 CA853122 |
709 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770204015 COSM241017 CA853121 |
710 | R>G | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340348999 rs1372992449 |
711 | K>T | No |
ClinGen gnomAD |
|
|
rs763401775 CA853104 |
717 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA853103 rs775998471 |
718 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481537399 CA340347133 |
719 | A>V | No |
ClinGen gnomAD |
|
|
CA853102 rs770081039 |
720 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA853101 rs142127656 |
721 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22502443 rs1026941164 COSM1492066 |
721 | R>W | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA340347082 rs1269560382 |
722 | C>F | No |
ClinGen gnomAD |
|
|
rs747120236 CA853099 |
724 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853098 rs539320346 |
725 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA340346957 rs1426753084 |
727 | R>T | No |
ClinGen TOPMed |
|
|
CA853097 rs143923779 |
728 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139719426 CA853096 |
728 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA853095 rs778703875 |
730 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349384630 CA522873304 |
733 | C>* | No |
ClinGen gnomAD |
|
|
rs149511676 CA22502402 |
736 | S>F | No |
ClinGen ESP TOPMed |
|
|
CA340346067 rs1304206801 |
737 | Q>R | No |
ClinGen gnomAD |
|
|
rs1377315684 CA340346038 |
738 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340346041 rs1377315684 |
738 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs202092571 CA853094 |
740 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs369132620 CA853093 |
742 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388509485 CA340345971 |
742 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340345959 rs369132620 |
742 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA853091 rs755636686 |
743 | P>H | No |
ClinGen ExAC |
|
|
rs1159559179 CA340345952 |
743 | P>S | No |
ClinGen gnomAD |
|
|
rs1159559179 CA340345954 |
743 | P>T | No |
ClinGen gnomAD |
|
|
CA853090 rs749963684 |
744 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA853089 rs764625964 |
747 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340345885 rs1334557567 |
748 | I>L | No |
ClinGen TOPMed |
|
|
CA340345826 rs1187183422 |
750 | H>R | No |
ClinGen gnomAD |
|
|
rs753059342 CA853087 |
752 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057310607 CA22502342 |
756 | D>V | No |
ClinGen Ensembl |
|
|
rs765668160 CA853085 |
758 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340345670 rs1557567398 |
758 | M>L | No |
ClinGen Ensembl |
|
|
CA22502337 rs146343223 |
758 | M>T | No |
ClinGen ESP gnomAD |
|
|
rs759870248 CA853084 |
761 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA853083 rs776902088 |
762 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA340345591 rs1333202856 |
762 | S>P | No |
ClinGen gnomAD |
|
|
rs1557567313 CA340345553 |
764 | I>V | No |
ClinGen Ensembl |
|
|
rs760741211 CA853081 |
765 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340345527 rs1385928372 |
766 | A>T | No |
ClinGen gnomAD |
|
|
CA22502300 rs879269409 |
767 | I>T | No |
ClinGen Ensembl |
|
|
CA853079 rs61756138 |
768 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 773 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA853056 rs775161364 |
774 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA853055 COSM1738456 rs769437807 |
775 | Q>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA853053 rs781041817 |
780 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA853050 RCV001865614 RCV000499811 rs779410890 |
783 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA340345070 rs755457464 |
784 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA853048 rs754186329 |
786 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578108817 CA853047 |
786 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1326632894 CA340345005 |
787 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA340344998 rs756545032 |
787 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM219977 rs756545032 CA853046 |
787 | R>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340344968 rs1397132514 |
789 | G>E | No |
ClinGen gnomAD |
|
|
CA853045 rs750619247 |
790 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767782494 CA853044 |
794 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1353485506 CA340344819 |
796 | Q>E | No |
ClinGen TOPMed |
|
|
rs774414902 CA853042 |
797 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA22500549 rs776906781 |
798 | I>M | No |
ClinGen Ensembl |
|
|
rs1374280098 CA340344376 |
799 | Y>H | No |
ClinGen gnomAD |
|
|
CA22500542 rs761718803 |
800 | S>G | No |
ClinGen Ensembl |
|
|
CA340344356 rs1173740009 |
800 | S>N | No |
ClinGen gnomAD |
|
|
rs1415762544 CA340344342 |
800 | S>R | No |
ClinGen gnomAD |
|
|
rs1405347501 CA340344329 |
801 | Q>* | No |
ClinGen gnomAD |
|
|
RCV000117875 rs587780411 CA231362 |
802 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs764110997 CA853022 |
803 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA340344257 rs1172363509 |
804 | A>V | No |
ClinGen gnomAD |
|
|
rs763131200 CA853021 |
805 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1378210227 CA340344252 |
805 | L>V | No |
ClinGen Ensembl |
|
|
rs752565323 CA853020 |
808 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308119824 CA340344188 |
808 | M>V | No |
ClinGen TOPMed |
|
|
rs1315346995 CA340344168 |
810 | G>V | No |
ClinGen gnomAD |
|
|
rs1176947954 CA340344107 |
814 | P>S | No |
ClinGen TOPMed |
|
|
rs1176947954 CA340344111 |
814 | P>T | No |
ClinGen TOPMed |
|
|
rs760439856 CA853017 |
816 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA340344092 rs1290018111 |
816 | M>V | No |
ClinGen gnomAD |
|
|
rs533419157 CA853016 |
817 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA853015 rs142559489 |
818 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA853014 rs747748571 |
820 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA22500445 rs868556816 |
822 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs770286151 CA340344036 CA340344037 |
822 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770286151 CA853012 |
822 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340344022 rs746169337 |
824 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746169337 CA853011 |
824 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781559609 CA340343998 |
828 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs757430297 RCV001318132 CA853009 |
830 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM3386229 CA853008 rs751699809 |
830 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1388209384 CA340343977 |
832 | L>V | No |
ClinGen TOPMed |
|
|
rs778103878 CA853007 |
833 | L>F | No |
ClinGen ExAC |
|
|
rs1157681446 CA340343968 |
834 | V>M | No |
ClinGen Ensembl |
|
|
rs751576918 CA853005 |
835 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484962391 CA340343959 |
835 | E>G | No |
ClinGen gnomAD |
|
|
rs559707307 CA22500381 |
835 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs371670277 CA22500371 |
837 | S>R | No |
ClinGen Ensembl |
|
|
CA853004 rs369189050 |
838 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369189050 CA853003 RCV001299230 |
838 | R>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA853002 rs753650374 |
839 | N>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000117878 CA231364 rs587780412 |
840 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs766249973 CA340343870 |
844 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340343866 COSM1320998 rs1313419907 |
844 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs766249973 CA853001 |
844 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA852997 rs761157629 |
846 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340343806 rs1390393417 |
847 | L>F | No |
ClinGen gnomAD |
|
|
rs773920523 CA852996 |
848 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340343788 rs773920523 |
848 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167577975 CA340343768 |
849 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1395831670 CA340343776 |
849 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA340343772 rs1395831670 |
849 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA852995 rs770236964 |
851 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746404528 CA852994 |
857 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA852992 rs747475137 |
858 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA852990 rs758661568 |
861 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q13415
[MIM: 224690]: Meier-Gorlin syndrome 1 (MGORS1)
A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q13415
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 5 - 159 | IPR005225 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear origin of replication recognition complex | A multisubunit complex that is located at the replication origins of a chromosome in the nucleus. |
| 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. |
| origin recognition complex | A multisubunit complex that is located at the replication origins of a chromosome. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA replication origin binding | Binding to a DNA replication origin, a unique DNA sequence of a replicon at which DNA replication is initiated and proceeds bidirectionally or unidirectionally. |
| metal ion binding | Binding to a metal ion. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA replication initiation | The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate. |
| mitotic DNA replication checkpoint signaling | A signal transduction process that contributes to a mitotic DNA replication checkpoint. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P54784 | ORC1 | Origin recognition complex subunit 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q58DC8 | ORC1 | Origin recognition complex subunit 1 | Bos taurus (Bovine) | PR |
| O16810 | Orc1 | Origin recognition complex subunit 1 | Drosophila melanogaster (Fruit fly) | EV |
| Q99741 | CDC6 | Cell division control protein 6 homolog | Homo sapiens (Human) | PR |
| Q9Z1N2 | Orc1 | Origin recognition complex subunit 1 | Mus musculus (Mouse) | PR |
| Q80Z32 | Orc1 | Origin recognition complex subunit 1 | Rattus norvegicus (Rat) | PR |
| Q710E8 | ORC1A | Origin of replication complex subunit 1A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SU24 | ORC1B | Origin of replication complex subunit 1B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHYPTRLKT | RKTYSWVGRP | LLDRKLHYQT | YREMCVKTEG | CSTEIHIQIG | QFVLIEGDDD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ENPYVAKLLE | LFEDDSDPPP | KKRARVQWFV | RFCEVPACKR | HLLGRKPGAQ | EIFWYDYPAC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DSNINAETII | GLVRVIPLAP | KDVVPTNLKN | EKTLFVKLSW | NEKKFRPLSS | ELFAELNKPQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ESAAKCQKPV | RAKSKSAESP | SWTPAEHVAK | RIESRHSASK | SRQTPTHPLT | PRARKRLELG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLGNPQMSQQ | TSCASLDSPG | RIKRKVAFSE | ITSPSKRSQP | DKLQTLSPAL | KAPEKTRETG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSYTEDDKKA | SPEHRIILRT | RIAASKTIDI | REERTLTPIS | GGQRSSVVPS | VILKPENIKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RDAKEAKAQN | EATSTPHRIR | RKSSVLTMNR | IRQQLRFLGN | SKSDQEEKEI | LPAAEISDSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SDEEEASTPP | LPRRAPRTVS | RNLRSSLKSS | LHTLTKVPKK | SLKPRTPRCA | APQIRSRSLA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AQEPASVLEE | ARLRLHVSAV | PESLPCREQE | FQDIYNFVES | KLLDHTGGCM | YISGVPGTGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TATVHEVIRC | LQQAAQANDV | PPFQYIEVNG | MKLTEPHQVY | VQILQKLTGQ | KATANHAAEL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LAKQFCTRGS | PQETTVLLVD | ELDLLWTHKQ | DIMYNLFDWP | THKEARLVVL | AIANTMDLPE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RIMMNRVSSR | LGLTRMCFQP | YTYSQLQQIL | RSRLKHLKAF | EDDAIQLVAR | KVAALSGDAR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RCLDICRRAT | EICEFSQQKP | DSPGLVTIAH | SMEAVDEMFS | SSYITAIKNS | SVLEQSFLRA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ILAEFRRSGL | EEATFQQIYS | QHVALCRMEG | LPYPTMSETM | AVCSHLGSCR | LLLVEPSRND |
| 850 | 860 | ||||
| LLLRVRLNVS | QDDVLYALKD | E |