Q9UQ90
PR
Gene name |
SPG7 |
Protein name |
Paraplegin |
Names |
Cell matrix adhesion regulator, Spastic paraplegia 7 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6687 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9UQ90
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QZ4 | X-ray | 222 A | A | 305-565 | PDB |
| AF-Q9UQ90-F1 | Predicted | AlphaFoldDB |
897 variants for Q9UQ90
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000173302 rs794726906 RCV001852108 |
1 | M>V | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321845 RCV002515437 VAR_063603 RCV001722098 rs535030441 RCV001847886 RCV000817246 |
2 | A>T | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001849069 RCV000761967 RCV000704426 rs781285980 |
8 | L>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069528 RCV002554580 CA397415849 rs1368314619 RCV002511031 |
9 | R>C | Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001059473 rs943187212 |
11 | L>P | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1242380690 CA397415871 RCV001201656 |
14 | G>S | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001233635 CA286519237 rs763721899 |
26 | G>C | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000231137 CA10583433 rs878854605 |
27 | P>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA397415958 rs1597597437 RCV000850308 RCV001391422 |
29 | W>* | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001662829 CA397415957 RCV000800813 rs1314660313 |
29 | W>* | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs863224215 RCV000389351 CA323832 |
30 | S>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1331243813 RCV001296267 |
33 | F>L | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791714 rs750617337 CA8243399 |
54 | E>G | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2057963306 RCV001253297 |
55 | A>D | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196946 rs1306012072 CA397416148 RCV001090549 |
61 | Q>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8243455 RCV000591290 RCV000469479 rs143294686 |
62 | S>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001847887 RCV000765319 RCV000198775 rs114854791 CA323300 |
74 | G>R | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA253966 RCV000007218 RCV000200640 RCV000664258 RCV001847594 rs121918358 |
78 | L>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 Proximal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000175748 CA241505 RCV002056943 rs770487062 |
78 | L>F | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001569278 RCV001047862 rs527363502 |
80 | L>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000424051 CA8243475 RCV002524804 rs146115797 RCV002521540 |
82 | Q>E | Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746764772 RCV000291284 CA8243515 |
103 | T>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8243522 RCV000517366 RCV002527532 rs1239421989 |
111 | K>E | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771130240 CA8243526 RCV000695759 |
113 | K>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149474131 CA8243529 RCV000624073 |
116 | S>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774326531 RCV000996402 CA8243543 RCV001858835 |
125 | E>K | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000515979 rs912983346 RCV000518245 CA286523796 |
126 | E>Q | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000197933 rs767820132 RCV001853199 CA322399 |
135 | D>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA319958 rs377268309 RCV000195598 RCV000640982 |
138 | Y>S | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs879253798 RCV000236850 RCV001818495 |
158 | L>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8243663 RCV001121553 rs577497147 |
173 | E>K | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA397417574 RCV001348056 rs1244544459 |
177 | K>E | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8243670 RCV001759888 rs762049799 RCV001121554 |
189 | S>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765532928 CA8243671 RCV000640977 |
190 | D>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8243675 rs114191002 RCV001238182 |
193 | E>G | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000725649 rs145776296 CA324599 RCV000473038 |
195 | Y>C | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001231276 rs752843742 |
199 | G>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001848059 RCV000725648 CA8243731 RCV000276883 rs774774648 |
213 | R>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001090550 rs147673636 CA8243732 RCV001228310 RCV001847152 |
213 | R>Q | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA349347 rs114255772 RCV000205153 |
219 | I>T | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8243735 RCV001391423 rs764791523 RCV002519056 RCV000276524 |
227 | R>* | Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA320149 RCV000195778 rs191022979 RCV001853200 |
235 | I>V | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001116670 CA8243745 rs771172268 |
245 | Y>C | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001819912 CA8243746 RCV001220525 rs779055639 |
247 | R>* | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000615294 rs768136171 RCV000989664 |
258 | V>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515438 RCV001039520 rs370949294 CA322133 RCV000197675 |
261 | T>M | Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8243794 RCV000396981 rs748547018 |
273 | R>C | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770339981 CA8243795 RCV001644887 RCV000996404 |
273 | R>H | Spastic ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768595656 RCV000640978 |
284 | F>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000199034 RCV000194085 RCV000508824 rs797046003 |
288 | N>* | Hereditary spastic paraplegia 7 Mitochondrial disease [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_063606 RCV000713488 RCV000128198 RCV001001627 rs115661328 CA293661 |
294 | R>H | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000707135 RCV001577546 rs771060044 CA8243839 |
300 | G>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16615322 rs1060503429 RCV000461245 |
311 | V>E | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001289255 rs2058330715 RCV001201827 |
312 | A>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201096554 RCV002942610 CA323057 |
322 | R>C | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555612612 CA397419267 RCV000546430 |
328 | L>P | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs368373840 CA397419954 RCV000501596 RCV001662499 |
345 | A>P | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060503425 RCV000465046 |
349 | G>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001794437 CA253968 RCV000007221 RCV001847595 RCV000198037 VAR_063607 RCV002512867 rs141659620 |
349 | G>S | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 Inborn genetic diseases SPG7; function impaired [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000996406 rs775364547 RCV000585677 |
350 | P>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002509520 rs376254211 RCV000703128 CA8243926 |
350 | P>H | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199789849 CA323771 RCV000809791 |
350 | P>S | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000810013 rs199789849 RCV000996407 RCV002537324 CA8243924 |
350 | P>T | Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000627428 RCV000824802 rs760818649 RCV000461092 |
352 | G>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567914095 RCV000686719 CA397420232 |
352 | G>A | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000640980 CA8243930 rs754903980 |
356 | T>M | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8243933 rs376803235 RCV001343239 |
360 | K>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778483 rs1567914229 |
368 | V>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001118113 rs778409451 CA8243983 |
391 | R>Q | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2058358025 RCV001063502 |
392 | S>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8243984 RCV000548390 rs745459731 RCV001289254 |
392 | S>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001331023 rs2058358241 RCV001549705 |
396 | E>* | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001855358 RCV000657638 CA397420759 rs1373388852 |
398 | R>* | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8243993 RCV002261171 rs115999025 RCV000685262 |
405 | V>I | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001643206 CA397420893 RCV000490105 rs745444834 |
411 | D>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001262387 rs1244749062 |
413 | V>E | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713479 rs201543030 RCV000804015 CA324322 |
423 | G>S | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8244024 RCV000401582 rs781129301 |
432 | T>M | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8244158 RCV000579008 RCV001391430 rs138671904 |
457 | R>* | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA336544 rs748555510 RCV000196592 |
470 | R>* | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002537998 CA286560203 RCV000798580 rs756535079 |
470 | R>Q | Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA397425404 RCV000686569 rs1567926386 |
474 | H>Y | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002525982 rs376713807 CA8244172 RCV001310348 RCV000516119 |
481 | T>M | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8244174 rs562890289 RCV001865382 RCV000420140 RCV000515851 |
483 | Q>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_063608 rs111475461 RCV000128202 RCV000989665 RCV000585517 RCV001847762 CA345675 |
486 | R>Q | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_017433 rs2292954 CA155287 RCV000576853 RCV001847729 RCV000118409 RCV001705868 |
503 | T>A | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691791 rs201733920 RCV001849056 CA8244233 |
508 | R>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000270813 RCV000623796 RCV000677252 rs61755320 RCV000626837 RCV000515835 RCV000034858 RCV000195683 VAR_063609 CA090884 RCV002463623 RCV000850200 RCV001003619 |
510 | A>V | Hereditary spastic paraplegia Spastic ataxia Intellectual disability Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Spastic paraparesis Hereditary spastic paraplegia 7 Optic nerve hypoplasia Spastic Paraplegia, Recessive Inborn genetic diseases SPG7; function impaired [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001260248 CA286561871 rs972175989 |
515 | G>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs1423182372 CA397427391 RCV000699667 |
519 | A>P | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs540602203 RCV000325890 CA8244268 |
522 | A>T | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8244278 rs757160836 RCV001035268 |
534 | R>Q | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139952725 RCV001310349 CA8244282 RCV002070133 |
537 | H>Q | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001855011 rs762795756 RCV000256054 RCV001848041 |
540 | V>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766155407 RCV000472422 |
543 | L>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10649292 RCV000385135 rs886052474 |
547 | Y>D | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750306995 CA8244298 RCV002533253 RCV000640976 |
552 | V>I | Hereditary spastic paraplegia 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001847793 RCV000508922 RCV002515187 rs369227537 CA334497 RCV000413970 RCV000168257 |
558 | K>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 Mitochondrial disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000198266 rs372981030 CA322772 RCV001847888 RCV000697812 |
559 | K>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8244366 rs577389704 RCV001121648 |
567 | E>K | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8244370 rs72547551 RCV000413737 RCV000235251 RCV001847906 |
572 | A>V | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001053922 rs2058623878 |
574 | H>Y | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233181 CA322015 rs151249432 RCV000197553 RCV001847891 |
576 | S>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs72547552 RCV000198892 CA277518 |
577 | G>S | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM3387683 RCV001121649 CA8244375 rs763187694 |
579 | A>T | pancreas Hereditary spastic paraplegia 7 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597661607 RCV000007216 |
581 | V>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_063611 | 581 | V>del | SPG7 [UniProt] | Yes | UniProt |
|
CA253969 RCV000996411 RCV000007222 VAR_063612 rs267607085 |
583 | W>C | Hereditary spastic paraplegia 7 SPG7; function impaired [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001235362 rs1035143808 CA286565188 |
586 | E>Q | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002515439 RCV000200868 rs199804717 CA325449 |
591 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs781314016 CA8244386 RCV000377192 |
592 | M>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8244426 VAR_063613 rs370852816 RCV000516941 RCV001121650 |
603 | A>T | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs368541637 CA8244443 RCV001200106 RCV001847187 RCV001542601 |
632 | G>R | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
VAR_063614 RCV000993072 CA350356 RCV000206309 rs864622507 |
635 | S>L | Hereditary spastic paraplegia 7 might be implicated in the hereditary spastic paraplegia phenotype [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000520300 rs758702550 RCV001066395 CA397432955 |
644 | T>I | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000640979 VAR_059086 RCV000487696 RCV000515879 rs2099104 CA325352 |
645 | S>T | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199689138 RCV000521089 RCV001062199 CA8244495 RCV001848911 |
647 | A>S | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000585273 RCV000205405 CA349575 rs769602042 |
650 | D>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000798049 CA8244498 rs775569150 |
653 | K>N | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8244501 RCV002272368 RCV000815054 rs536084933 |
656 | R>C | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA286567908 RCV000812104 rs373143136 |
656 | R>H | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001260249 rs373143136 |
656 | R>P | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000850201 rs1597665063 RCV001003620 |
664 | Q>missing | Spastic ataxia Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200425 RCV001847908 rs752989523 RCV001562435 CA339302 CA10575796 RCV000236261 |
666 | G>R | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000989666 CA397433950 rs1597665080 |
666 | G>V | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000640984 CA397434094 rs369503365 CA8244506 RCV000713482 |
672 | G>R | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA286567933 rs72547553 RCV002549827 RCV000993073 |
676 | F>L | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036140 rs2058661946 |
676 | F>S | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806179 rs1597665192 |
687 | G>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_017434 RCV001705869 RCV000118410 rs12960 RCV001847730 CA155289 RCV000576393 |
688 | R>Q | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8244520 RCV000640983 rs148199060 |
689 | R>H | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001380103 rs1555617559 RCV000627617 |
691 | F>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA253965 RCV000007217 rs121918357 VAR_045898 |
692 | S>T | Hereditary spastic paraplegia 7 SPG7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA349321 rs864622094 RCV000413637 RCV000205117 |
695 | L>P | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8244521 RCV000393347 RCV000869510 rs754203248 |
695 | L>V | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000489898 RCV000460135 rs747503698 |
699 | M>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200130 RCV002515440 CA324687 rs752257333 |
702 | E>K | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000528473 rs748255454 RCV000996413 |
706 | L>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2058667749 RCV001037124 |
711 | Y>D | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_048118 rs35749032 RCV001847885 RCV000713484 RCV001085449 CA321652 RCV000197208 |
730 | N>D | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001091058 rs763126378 RCV001760064 |
739 | N>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001847163 RCV001116770 rs759329959 CA8244627 |
742 | D>G | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA323349 RCV001847889 RCV000500664 rs752623413 RCV000198819 RCV001640295 |
743 | I>T | Hereditary spastic paraplegia Spastic ataxia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs879253797 CA10575797 RCV001847905 RCV000236780 |
750 | P>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000625997 rs1217391623 |
757 | M>missing | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397417813 RCV000824124 rs1597668767 |
758 | I>V | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001847890 RCV000766856 RCV000200735 RCV000227318 rs140769107 CA325312 |
759 | A>T | Hereditary spastic paraplegia Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000694919 CA8244661 rs372033226 |
789 | E>K | Hereditary spastic paraplegia 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA397415816 rs973170664 |
2 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA286519083 rs973170664 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1488107055 CA397415833 |
5 | L>P | No |
ClinGen gnomAD |
|
|
CA397415837 rs1352999079 |
6 | L>Q | No |
ClinGen gnomAD |
|
|
RCV001090548 rs1188029212 |
7 | L>M | No |
ClinVar dbSNP |
|
|
rs984633036 CA286519136 |
7 | L>P | No |
ClinGen TOPMed |
|
|
rs773745485 CA8243386 |
8 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763469858 CA286519163 |
9 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8243387 rs763469858 |
9 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA286519177 rs577872969 |
10 | A>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA397415853 rs577872969 |
10 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA286519175 rs577872969 |
10 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA397415856 rs1392123787 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397415859 rs1206986382 |
11 | L>F | No |
ClinGen TOPMed |
|
|
CA286519183 rs943187212 |
11 | L>R | No |
ClinGen Ensembl |
|
|
CA397415858 rs1206986382 |
11 | L>V | No |
ClinGen TOPMed |
|
|
CA286519190 rs1038946809 |
12 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs923197967 CA286519194 |
13 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs923197967 CA397415867 |
13 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1267090698 CA397415876 |
14 | G>D | No |
ClinGen gnomAD |
|
|
CA397415872 rs1242380690 |
14 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757046310 CA397415878 |
15 | P>A | No |
ClinGen Ensembl |
|
|
CA286519206 rs757046310 |
15 | P>S | No |
ClinGen Ensembl |
|
|
CA8243389 rs766810299 |
16 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA286519225 rs956304326 |
17 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1031899714 CA286519224 |
17 | P>S | No |
ClinGen TOPMed |
|
|
RCV000517403 rs1371729405 CA397415896 |
18 | G>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA397415897 rs1466413332 |
19 | P>S | No |
ClinGen gnomAD |
|
|
rs863224222 CA321596 RCV000197155 |
20 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA397415912 rs1255749117 |
21 | P>L | No |
ClinGen gnomAD |
|
|
rs1457238867 CA397415924 |
23 | W>* | No |
ClinGen gnomAD |
|
|
CA397415925 rs1457238867 |
23 | W>C | No |
ClinGen gnomAD |
|
|
CA397415919 rs1419170613 |
23 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA397415920 rs1419170613 |
23 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8243390 rs774999325 |
24 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA397415932 rs1379498694 |
25 | P>A | No |
ClinGen TOPMed |
|
|
CA8243392 rs763721899 |
26 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757013711 CA8243394 |
28 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA397415948 rs757013711 |
28 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA320077 rs863224216 RCV000195712 |
32 | G>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs863224216 CA397415978 |
32 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397415989 rs1255208087 |
34 | P>H | No |
ClinGen TOPMed |
|
|
rs891543784 CA286519250 |
34 | P>T | No |
ClinGen gnomAD |
|
|
CA397415994 rs1255580855 |
35 | A>S | No |
ClinGen gnomAD |
|
|
CA286519253 rs1011777245 |
35 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397416002 rs1597597509 |
36 | R>S | No |
ClinGen Ensembl |
|
|
CA286519256 rs941328333 |
37 | P>L | No |
ClinGen TOPMed |
|
|
rs1037021387 CA286519259 |
39 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA286519266 rs897056635 |
40 | G>R | No |
ClinGen TOPMed |
|
|
rs1180561795 CA397416025 |
40 | G>V | No |
ClinGen gnomAD |
|
|
rs1597597562 CA397416029 |
41 | R>Q | No |
ClinGen Ensembl |
|
|
rs1358183870 CA397416035 |
42 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA286519275 rs906015686 |
42 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1304355672 CA397416057 |
45 | A>G | No |
ClinGen gnomAD |
|
|
rs1198857710 CA397416064 |
46 | S>T | No |
ClinGen Ensembl |
|
|
rs1035888920 CA397416069 |
47 | R>K | No |
ClinGen Ensembl |
|
|
rs1035888920 CA286519289 |
47 | R>M | No |
ClinGen Ensembl |
|
|
CA397416076 rs1394844219 |
48 | P>L | No |
ClinGen TOPMed |
|
|
CA8243395 rs750204359 |
48 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758294851 CA8243396 |
49 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352282991 CA397416080 |
49 | P>S | No |
ClinGen gnomAD |
|
|
rs779856515 CA8243397 |
51 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397416089 rs1410044463 |
51 | D>N | No |
ClinGen TOPMed |
|
|
rs1161739922 RCV000993071 CA397416093 |
51 | D>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA286519319 rs750617337 |
54 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397416115 rs1203480403 |
55 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs11559074 CA286519327 |
56 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs11559074 CA397416123 |
56 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA286519336 rs11559074 |
56 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1177271656 CA397416127 |
57 | G>D | No |
ClinGen gnomAD |
|
|
CA397416126 rs1470820944 |
57 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA397416130 rs1597597739 |
58 | R>G | No |
ClinGen Ensembl |
|
|
CA397416137 rs758594348 |
59 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs994179099 CA286519340 |
59 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs994179099 CA397416135 |
59 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA286519346 rs758594348 |
59 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1050875817 CA286519353 |
60 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1428816171 CA397416145 |
61 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1428816171 CA397416143 |
61 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA397416731 rs143294686 |
62 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488874238 CA397416727 |
62 | S>R | No |
ClinGen TOPMed |
|
|
rs375957897 CA397416739 |
63 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8243458 rs748847345 |
64 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs148296627 CA8243460 |
64 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748847345 CA397416741 |
64 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8243462 rs767548328 |
65 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1567893769 CA397416764 |
67 | L>P | No |
ClinGen Ensembl |
|
|
CA397416775 rs1405087899 |
69 | T>I | No |
ClinGen gnomAD |
|
|
CA8243467 rs753973274 |
71 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs753973274 CA8243466 |
71 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs570475662 CA8243468 |
73 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375990212 CA397416815 |
76 | N>D | No |
ClinGen gnomAD |
|
|
rs777092974 CA8243473 |
77 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8243476 rs146115797 |
82 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| VAR_063604 | 82 | Q>del | might be implicated in the hereditary spastic paraplegia phenotype [UniProt] | No | UniProt |
|
CA8243477 rs772031341 |
83 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1011128784 CA286521188 |
83 | H>R | No |
ClinGen TOPMed |
|
|
CA397416888 rs1202954508 |
87 | N>D | No |
ClinGen gnomAD |
|
|
rs764104523 CA8243480 |
88 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397416907 rs1597601043 |
90 | R>K | No |
ClinGen Ensembl |
|
|
rs762017481 CA8243482 |
90 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA397416911 rs1251955938 |
91 | L>F | No |
ClinGen gnomAD |
|
|
CA397416914 rs1268105944 |
91 | L>H | No |
ClinGen TOPMed |
|
|
rs758056740 CA8243513 |
97 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA397416970 rs1331962779 |
97 | G>D | No |
ClinGen gnomAD |
|
|
CA397416977 rs1215051648 |
98 | T>S | No |
ClinGen gnomAD |
|
|
RCV000996401 rs1053348858 CA397416985 CA286523627 |
99 | F>L | No |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
|
rs1336600500 CA397417003 |
102 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1446130997 CA397417006 |
102 | N>S | No |
ClinGen gnomAD |
|
|
rs746764772 CA8243516 |
103 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA397417021 rs374082677 |
105 | R>W | No |
ClinGen ESP TOPMed |
|
|
CA397417029 rs1454121624 |
106 | L>* | No |
ClinGen TOPMed |
|
|
rs551713522 CA397417028 |
106 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8243519 rs769740451 |
108 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA397417043 rs769740451 |
108 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773212880 CA8243520 |
108 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954357142 CA286523647 |
109 | K>E | No |
ClinGen gnomAD |
|
|
CA286523648 rs367982822 |
110 | N>D | No |
ClinGen ESP TOPMed |
|
|
rs1374354854 CA397417061 |
110 | N>K | No |
ClinGen gnomAD |
|
|
CA397417066 rs1304074191 |
111 | K>N | No |
ClinGen gnomAD |
|
|
CA8243523 rs1239421989 |
111 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1414573753 CA397417072 |
112 | E>G | No |
ClinGen gnomAD |
|
|
CA397417087 rs1234564959 |
114 | D>G | No |
ClinGen gnomAD |
|
|
rs1284350694 CA397417092 |
115 | K>E | No |
ClinGen gnomAD |
|
|
RCV001722097 CA324851 rs149474131 |
116 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs149474131 CA8243528 |
116 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8243531 rs764701689 |
117 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1277248146 CA397417114 |
118 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA397417122 rs1209945253 |
119 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8243532 rs749945685 |
119 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA397417127 rs530877336 |
120 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371969398 CA8243533 |
120 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8243534 rs530877336 |
120 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8243538 rs747902707 |
121 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397417129 rs747902707 |
121 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756043651 CA8243539 |
122 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs536047931 CA8243541 |
124 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs774326531 CA397417155 |
125 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397417160 rs1377800090 |
125 | E>D | No |
ClinGen gnomAD |
|
|
rs761635174 CA8243623 |
127 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243624 rs764896667 |
128 | R>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000512694 CA321353 rs863224217 |
130 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA8243626 rs143201041 |
130 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369091800 CA8243627 |
131 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs985921704 CA286536927 |
131 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA397417214 rs1478177922 |
132 | E>D | No |
ClinGen gnomAD |
|
|
rs751679806 CA8243629 |
133 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766494421 CA8243628 |
133 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA286536955 rs910197516 |
134 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA397417228 rs1429099681 |
135 | D>G | No |
ClinGen gnomAD |
|
|
rs1044368411 CA286536967 |
136 | Q>* | No |
ClinGen TOPMed |
|
|
CA397417241 rs1308853471 |
137 | M>L | No |
ClinGen TOPMed |
|
|
rs752822791 CA8243631 |
137 | M>R | No |
ClinGen ExAC TOPMed |
|
|
rs377268309 CA397417250 |
138 | Y>C | No |
ClinGen ESP gnomAD |
|
|
CA397417249 rs377268309 |
138 | Y>F | No |
ClinGen ESP gnomAD |
|
|
rs863224218 RCV000199491 CA324036 |
138 | Y>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000489060 rs1085307874 |
139 | R>missing | No |
ClinVar dbSNP |
|
|
rs370777371 CA8243632 |
139 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA286536995 rs948625936 |
139 | R>Q | No |
ClinGen gnomAD |
|
|
CA286536999 rs925523329 |
140 | E>K | No |
ClinGen TOPMed |
|
|
rs757755834 CA397417273 |
143 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8243635 rs757755834 |
143 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA397417276 rs779452055 |
143 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8243636 rs779452055 |
143 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8243637 rs116068265 |
144 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA397417280 rs935581559 |
144 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA286537008 rs935581559 |
144 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8243638 rs768191767 |
146 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8243640 rs375696230 |
148 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8243639 rs375696230 |
148 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1227351 COSM1227352 RCV000429046 CA8243642 rs777638594 |
149 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8243643 rs762901590 |
149 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766401345 CA8243644 |
150 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs759578896 CA8243646 |
151 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311601479 CA397417320 |
152 | M>T | No |
ClinGen gnomAD |
|
|
CA8243648 rs146186857 |
152 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8243651 rs756224992 |
157 | A>T | No |
ClinGen ExAC |
|
|
rs764442707 CA8243652 |
158 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995681209 CA286537040 |
161 | S>G | No |
ClinGen TOPMed |
|
|
CA286537049 rs1045184139 |
161 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8243655 rs774691810 |
162 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8243656 rs746330825 |
163 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8243657 rs758924472 |
165 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs769321645 CA8243660 |
169 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397417507 rs1339821726 |
170 | F>C | No |
ClinGen TOPMed |
|
|
rs1338276854 CA397417537 |
173 | E>D | No |
ClinGen gnomAD |
|
|
CA397417540 rs1180744527 |
174 | M>L | No |
ClinGen gnomAD |
|
|
CA397417554 rs1382940218 |
175 | L>M | No |
ClinGen TOPMed |
|
|
CA321922 rs149797758 RCV000197458 |
175 | L>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1405047156 CA397417608 |
179 | E>D | No |
ClinGen gnomAD |
|
|
rs759489240 CA8243664 |
179 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597621118 CA397417632 |
181 | Q>H | No |
ClinGen Ensembl |
|
|
rs376397768 CA8243665 |
182 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775429752 CA8243666 |
182 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373636036 CA397417654 |
183 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373636036 CA8243668 |
183 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286537132 rs993396695 |
184 | Q>R | No |
ClinGen TOPMed |
|
|
rs1215054345 CA397417685 |
186 | V>M | No |
ClinGen gnomAD |
|
|
rs750796683 CA397417747 |
190 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369983524 CA8243674 |
191 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369983524 CA8243673 |
191 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397417764 rs1254356298 |
193 | E>K | No |
ClinGen gnomAD |
|
|
rs1327843232 CA397417806 |
197 | H>Y | No |
ClinGen TOPMed |
|
|
CA8243678 rs770721153 |
198 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397417829 rs1359418549 |
199 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8243682 rs745726067 |
200 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243684 rs775545751 |
201 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397417866 rs1597621303 |
202 | V>G | No |
ClinGen Ensembl |
|
|
CA397417891 rs1434803859 |
204 | G>E | No |
ClinGen gnomAD |
|
|
rs760639086 CA501198 RCV001310345 |
205 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1555611538 CA397417898 |
205 | R>W | No |
ClinGen Ensembl |
|
|
rs1400637806 CA397417905 |
206 | P>A | No |
ClinGen gnomAD |
|
|
CA397418134 rs1179653517 |
207 | R>Q | No |
ClinGen gnomAD |
|
|
rs199751531 CA8243727 |
207 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397418142 rs1257815711 |
209 | A>P | No |
ClinGen gnomAD |
|
|
CA8243729 rs371725196 |
211 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378526561 CA397418155 |
211 | M>L | No |
ClinGen TOPMed |
|
|
rs147027638 CA8243730 |
212 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147027638 CA397418164 |
212 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147673636 CA397418169 |
213 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397418213 rs201464738 |
219 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575421836 CA397418228 |
221 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390980506 CA397418261 |
225 | K>N | No |
ClinGen gnomAD |
|
|
rs1311667419 CA397418263 |
226 | L>F | No |
ClinGen gnomAD |
|
|
rs1240424706 CA397418265 |
226 | L>H | No |
ClinGen TOPMed |
|
|
CA8243736 rs749914575 |
227 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs749914575 CA397418269 |
227 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757998476 CA8243737 |
228 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs375721189 CA286538872 |
228 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA286538882 rs755165832 |
232 | E>* | No |
ClinGen TOPMed |
|
|
CA8243738 rs766011313 |
232 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs755165832 CA286538878 |
232 | E>Q | No |
ClinGen TOPMed |
|
|
rs751353500 CA8243739 |
233 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751353500 CA286538888 |
233 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115244515 CA8243741 |
235 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397418317 rs1197579407 |
235 | I>S | No |
ClinGen gnomAD |
|
|
CA8243742 rs376360606 |
236 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397418335 rs1454515723 |
238 | K>R | No |
ClinGen TOPMed |
|
|
rs1567908453 CA397418340 |
239 | D>H | No |
ClinGen Ensembl |
|
|
rs200135308 CA286538901 |
242 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs527731763 CA8243744 |
244 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425380351 CA397418375 |
244 | S>F | No |
ClinGen TOPMed |
|
|
CA397418394 rs746209986 |
247 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243747 rs746209986 |
247 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243749 rs776018878 |
249 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA397418422 rs1196560180 |
252 | G>R | No |
ClinGen gnomAD |
|
|
rs1407425522 CA397418629 |
254 | A>S | No |
ClinGen gnomAD |
|
|
rs759122744 CA8243779 |
256 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397418642 rs773926412 |
256 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773926412 CA8243778 |
256 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243784 rs760516517 |
259 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764063677 CA8243785 |
260 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs370949294 CA8243786 |
261 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372537440 CA8243788 |
263 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397418685 rs1229815857 |
264 | G>R | No |
ClinGen gnomAD |
|
|
CA397418695 rs1460394017 |
266 | A>T | No |
ClinGen TOPMed |
|
|
CA397418701 rs747354081 |
267 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1488645861 CA397418704 |
267 | I>T | No |
ClinGen gnomAD |
|
|
CA8243791 rs747354081 |
267 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1235945505 CA397418716 RCV000519087 |
269 | W>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs755336604 CA8243792 |
270 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA397418745 rs770339981 |
273 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286541722 rs1052834011 |
275 | A>S | No |
ClinGen TOPMed |
|
|
rs1356933438 CA397418758 |
276 | G>E | No |
ClinGen gnomAD |
|
|
rs771694289 CA8243798 |
276 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909738481 CA286541743 |
277 | M>V | No |
ClinGen Ensembl |
|
|
CA397418773 rs1315349799 |
278 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760353440 CA8243800 |
279 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397418775 rs1375839327 |
279 | G>R | No |
ClinGen gnomAD |
|
|
rs1342915455 CA397418789 |
281 | E>* | No |
ClinGen TOPMed |
|
| VAR_063605 | 284 | F>P | requires 2 nucleotide substitutions; might be implicated in the hereditary spastic paraplegia phenotype [UniProt] | No | UniProt |
|
CA286541771 rs941282938 |
284 | F>S | No |
ClinGen gnomAD |
|
|
CA501199 rs763745195 |
285 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs764294777 CA286541781 |
287 | F>V | No |
ClinGen gnomAD |
|
|
CA397418849 rs1567912521 |
288 | N>S | No |
ClinGen Ensembl |
|
|
rs1131691968 CA397418855 RCV000494238 |
289 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1480344053 CA397418860 |
289 | Q>H | No |
ClinGen TOPMed |
|
|
CA397418862 rs1245315290 |
290 | L>I | No |
ClinGen TOPMed |
|
|
CA397418874 rs1476574056 |
291 | K>R | No |
ClinGen gnomAD |
|
|
rs746593826 CA8243833 |
292 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286543011 rs916360242 |
293 | A>S | No |
ClinGen Ensembl |
|
|
CA8243834 rs201723702 |
293 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397418910 rs1161309952 |
294 | R>G | No |
ClinGen gnomAD |
|
|
rs115661328 CA8243836 |
294 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297527194 CA397418928 |
295 | F>L | No |
ClinGen gnomAD |
|
|
rs762918022 CA8243838 |
299 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774281680 CA8243840 |
301 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759714565 CA8243841 |
302 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA397419000 rs759714565 |
302 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1360651357 CA397419013 |
303 | G>E | No |
ClinGen gnomAD |
|
|
CA286543048 rs1036414465 |
303 | G>R | No |
ClinGen gnomAD |
|
|
CA8243842 rs767606469 |
304 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1284559348 CA397419027 |
304 | K>R | No |
ClinGen gnomAD |
|
|
rs752927361 CA8243843 |
305 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs760832034 CA8243844 |
306 | V>L | No |
ClinGen ExAC |
|
|
rs754202553 CA8243846 |
307 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs939767959 CA286543075 |
310 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757753686 CA8243847 |
310 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs150109507 CA8243849 |
311 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1358613832 CA397419126 |
312 | A>E | No |
ClinGen gnomAD |
|
|
rs780596661 CA8243851 CA397419144 |
314 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA397419142 rs863224219 |
314 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs863224219 RCV000196674 CA321097 |
314 | M>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA286543082 rs898925756 |
314 | M>V | No |
ClinGen Ensembl |
|
|
CA397419156 rs769576372 |
315 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747785297 CA8243852 |
315 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777707037 CA8243854 |
316 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA397419163 rs1349833142 |
316 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1349833142 CA397419162 |
316 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA397419182 rs1326769920 |
317 | A>V | No |
ClinGen TOPMed |
|
|
CA397419199 rs1454732864 |
319 | L>M | No |
ClinGen gnomAD |
|
|
CA286543111 rs768467902 |
320 | E>* | No |
ClinGen gnomAD |
|
|
rs770970424 CA8243856 |
321 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs571360149 CA8243857 |
322 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8243859 rs775448352 COSM1588597 COSM974892 |
323 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8243861 rs764364095 |
325 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA397419271 rs1378255934 |
329 | K>Q | No |
ClinGen gnomAD |
|
|
rs1201513329 CA397419643 |
330 | S>G | No |
ClinGen gnomAD |
|
|
rs972910024 CA286544328 |
330 | S>N | No |
ClinGen TOPMed |
|
|
CA8243898 rs769911439 |
330 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA397419657 rs1191740637 |
331 | P>L | No |
ClinGen gnomAD |
|
|
rs773613840 CA8243899 |
331 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243901 rs368366535 |
333 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8243902 rs774963488 |
333 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8243903 rs774963488 |
333 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1304316127 CA397419788 |
338 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1051219206 CA286544367 |
338 | G>D | No |
ClinGen TOPMed |
|
|
rs761518974 CA8243907 |
339 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761518974 CA397419808 |
339 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753406143 CA8243906 |
339 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs375684876 CA8243908 |
340 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8243909 rs750205945 |
340 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243910 rs750205945 |
340 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205851011 CA397419854 |
341 | V>I | No |
ClinGen TOPMed |
|
|
CA8243913 rs754919982 |
344 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397419936 rs1271551886 |
344 | G>S | No |
ClinGen TOPMed |
|
|
rs368373840 CA8243914 |
345 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1048851280 CA286544428 |
345 | A>V | No |
ClinGen gnomAD |
|
|
CA8243916 rs777896558 |
348 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1387985266 CA397420127 |
349 | G>A | No |
ClinGen TOPMed |
|
|
CA8243919 rs141659620 |
349 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397420130 rs1387985266 |
349 | G>V | No |
ClinGen TOPMed |
|
|
rs199789849 CA8243925 |
350 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376254211 CA397420187 |
350 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418560015 CA397420197 |
351 | P>A | No |
ClinGen gnomAD |
|
|
rs537421502 CA8243928 |
352 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397420248 rs1215285492 |
353 | C>Y | No |
ClinGen gnomAD |
|
|
rs1567914121 CA397420269 |
355 | K>E | No |
ClinGen Ensembl |
|
|
rs997293950 CA286544539 |
358 | L>P | No |
ClinGen Ensembl |
|
|
rs1031614168 CA286544554 |
359 | A>P | No |
ClinGen Ensembl |
|
|
CA397420313 rs1031614168 |
359 | A>T | No |
ClinGen Ensembl |
|
|
CA286544566 rs532511374 |
362 | V>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8243936 rs749416897 |
364 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA286544570 rs969799867 |
367 | Q>* | No |
ClinGen gnomAD |
|
|
CA397420388 rs1328842107 |
367 | Q>R | No |
ClinGen TOPMed |
|
|
CA397420395 rs1597633935 |
368 | V>G | No |
ClinGen Ensembl |
|
|
CA8243939 rs746289118 |
368 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs746289118 CA8243940 |
368 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs1462928466 CA397420398 |
369 | P>S | No |
ClinGen gnomAD |
|
|
CA397420408 rs1380077874 |
370 | F>L | No |
ClinGen gnomAD |
|
|
rs1438315244 CA397420417 |
372 | A>S | No |
ClinGen gnomAD |
|
|
rs776176403 CA8243941 COSM1588594 |
372 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA286544624 rs1001326589 |
373 | M>T | No |
ClinGen Ensembl |
|
|
rs1400822677 CA397420421 |
373 | M>V | No |
ClinGen gnomAD |
|
|
rs113633761 CA8243943 |
375 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA397420478 rs766085257 |
379 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8243946 rs766085257 |
379 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286544665 rs986972872 |
382 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1567914339 CA397420519 |
382 | I>M | No |
ClinGen Ensembl |
|
|
rs1281254674 CA397420517 |
382 | I>T | No |
ClinGen gnomAD |
|
|
CA397420511 rs986972872 |
382 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397420528 rs1351469526 |
383 | G>A | No |
ClinGen gnomAD |
|
|
rs1271077747 CA397420606 |
385 | L>I | No |
ClinGen gnomAD |
|
|
rs755426662 CA8243979 |
386 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1346499168 CA397420625 |
387 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA286545191 rs780962177 |
388 | A>S | No |
ClinGen Ensembl |
|
|
CA8243981 rs748685625 |
389 | R>C | No |
ClinGen ExAC |
|
|
CA286545199 rs770100474 |
389 | R>H | No |
ClinGen Ensembl |
|
|
CA8243982 rs530205797 |
390 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA16607493 RCV000433930 COSM1227350 rs1057524520 |
391 | R>W | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA8243987 COSM1195733 rs771782004 |
398 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8243986 rs771782004 |
398 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200944920 CA397420773 |
399 | A>V | No |
ClinGen gnomAD |
|
|
CA8243989 rs541757224 |
400 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748024868 RCV000494280 CA397420776 |
400 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA8243990 rs776587961 |
401 | A>T | No |
ClinGen ExAC |
|
|
rs761861319 CA8243991 |
401 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA397420822 rs1297583203 |
404 | I>V | No |
ClinGen gnomAD |
|
|
CA397420855 rs1319276066 |
406 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1319276066 CA397420857 |
406 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766681780 CA8243996 |
407 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139103036 CA8243994 |
407 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8243998 rs781433358 |
408 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755331410 CA8243997 |
408 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756619796 CA397420892 |
410 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244002 rs745444834 |
411 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244004 rs779792728 |
412 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746668495 CA8244005 |
412 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244749062 CA397420934 |
413 | V>A | No |
ClinGen gnomAD |
|
|
rs1025013854 CA286545363 |
416 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773412289 CA8244010 |
417 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA397420992 rs1401852239 |
417 | R>H | No |
ClinGen gnomAD |
|
|
rs970789272 CA286545372 |
419 | T>A | No |
ClinGen TOPMed |
|
|
rs371504521 CA8244012 |
419 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397421027 rs1446641209 |
420 | T>A | No |
ClinGen gnomAD |
|
|
rs1305539945 CA397421040 RCV001269941 |
420 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA8244014 rs751756594 |
421 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314587362 CA397421052 |
421 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8244015 rs759692576 |
422 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1163292611 CA397421096 |
423 | G>D | No |
ClinGen TOPMed |
|
|
rs749907835 CA8244019 |
427 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1176530813 CA397421151 |
427 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA286545436 rs17850240 |
428 | E>* | No |
ClinGen Ensembl |
|
|
rs12921797 RCV001310347 CA286545440 |
428 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8244023 rs115331092 |
432 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867197404 CA286545449 |
433 | L>I | No |
ClinGen Ensembl |
|
|
CA320621 RCV000196196 rs559906913 |
435 | Q>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs200791557 CA286545460 |
437 | L>R | No |
ClinGen 1000Genomes |
|
|
rs749207112 CA8244027 |
438 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286545469 rs749207112 |
438 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210746203 CA397421382 |
441 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs759564368 CA286545492 |
441 | D>N | No |
ClinGen Ensembl |
|
|
CA8244151 rs150369730 |
442 | G>E | No |
ClinGen ESP ExAC |
|
|
rs1597653887 CA397425070 |
443 | M>I | No |
ClinGen Ensembl |
|
|
rs1597653882 CA397425059 RCV000996409 |
443 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1440490279 CA397425077 |
444 | G>D | No |
ClinGen gnomAD |
|
|
CA286560129 rs959015320 |
446 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA397425100 rs959015320 |
446 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA397425116 rs1387134482 |
448 | H>Y | No |
ClinGen gnomAD |
|
|
rs1158198018 CA397425138 |
450 | I>V | No |
ClinGen gnomAD |
|
|
CA286560145 rs1056428109 |
451 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1567926289 CA397425166 |
453 | A>T | No |
ClinGen Ensembl |
|
|
CA397425175 rs1321582945 |
453 | A>V | No |
ClinGen gnomAD |
|
|
rs780654018 CA8244156 |
455 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777278716 CA8244159 |
457 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8244160 rs748873540 |
460 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1348033156 CA397425272 |
462 | D>N | No |
ClinGen gnomAD |
|
|
rs375418325 CA397425292 |
463 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375418325 CA8244161 |
463 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370111283 CA8244162 |
464 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771792815 CA8244164 |
466 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756535079 CA286560207 |
470 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA397425380 rs1426260380 |
471 | L>P | No |
ClinGen TOPMed |
|
|
CA397425392 rs1160232888 |
472 | D>E | No |
ClinGen gnomAD |
|
|
CA286560211 rs777935431 |
472 | D>G | No |
ClinGen TOPMed |
|
|
CA8244166 rs760540566 |
473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372417357 CA8244165 |
473 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8244168 rs754034178 |
474 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA8244171 rs750725796 |
475 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs765608610 CA8244170 |
475 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266575375 CA397425430 |
476 | F>C | No |
ClinGen TOPMed |
|
|
rs1064797213 RCV000488053 CA16621694 |
479 | L>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1597654083 CA397425479 |
481 | T>P | No |
ClinGen Ensembl |
|
|
CA8244173 rs376713807 |
481 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286560263 rs931943801 |
482 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1040717065 CA286561791 |
484 | E>D | No |
ClinGen TOPMed |
|
|
rs1597656590 CA397426269 |
484 | E>G | No |
ClinGen Ensembl |
|
|
CA8244218 rs758051527 |
485 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA397426294 rs111475461 |
486 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8244219 rs779616855 |
486 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs754773999 CA397426298 |
487 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs754773999 CA8244220 |
487 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8244222 rs748032710 |
488 | I>S | No |
ClinGen ExAC |
|
|
rs781149957 CA8244221 |
488 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA286561812 rs1052577157 |
489 | F>L | No |
ClinGen Ensembl |
|
|
rs1212619935 CA397426319 |
489 | F>S | No |
ClinGen gnomAD |
|
|
CA8244223 rs769688149 |
490 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8244224 rs769688149 |
490 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1179556029 CA397426347 |
491 | Q>* | No |
ClinGen gnomAD |
|
|
rs1413810792 CA397426356 |
491 | Q>H | No |
ClinGen gnomAD |
|
|
CA286561820 rs893983477 |
492 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1436728508 CA397426391 |
494 | K>E | No |
ClinGen TOPMed |
|
|
CA397426420 rs749367697 |
495 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA8244225 rs749367697 |
495 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs774506412 CA8244227 |
496 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886043594 RCV000364549 CA10605699 |
498 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA397426476 rs1353996478 |
500 | Q>E | No |
ClinGen gnomAD |
|
|
CA397426486 rs371160168 |
500 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286561843 rs1023807068 |
503 | T>I | No |
ClinGen Ensembl |
|
|
CA397426517 rs1023807068 |
503 | T>S | No |
ClinGen Ensembl |
|
|
CA8244230 rs761154341 |
504 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA286561848 rs374758720 |
504 | F>V | No |
ClinGen ESP TOPMed |
|
|
rs764553749 CA8244231 |
506 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA397426551 rs1482442290 |
507 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs905467263 CA286561863 |
507 | Q>H | No |
ClinGen Ensembl |
|
|
rs1253362383 CA397426565 |
509 | L>R | No |
ClinGen gnomAD |
|
|
rs1348414729 CA397426568 |
510 | A>T | No |
ClinGen TOPMed |
|
|
CA397426571 rs1198280844 |
511 | E>K | No |
ClinGen gnomAD |
|
|
CA8244234 rs751201438 |
515 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397426647 rs1173084680 |
517 | S>G | No |
ClinGen gnomAD |
|
|
rs1423182372 CA397427388 |
519 | A>T | No |
ClinGen gnomAD |
|
|
rs202123044 CA8244266 |
521 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397427452 rs1473226077 |
521 | I>T | No |
ClinGen gnomAD |
|
|
CA8244265 rs772248078 |
521 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8244267 rs540602203 |
522 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293343034 CA397427479 |
522 | A>V | No |
ClinGen TOPMed |
|
|
rs974972989 CA286562847 |
523 | N>S | No |
ClinGen gnomAD |
|
|
rs1321647106 CA397427521 |
525 | C>Y | No |
ClinGen gnomAD |
|
|
rs1597658297 CA397427603 |
528 | A>G | No |
ClinGen Ensembl |
|
|
rs1405918952 CA397427592 |
528 | A>T | No |
ClinGen gnomAD |
|
|
CA324092 RCV000199550 rs748600162 |
529 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA8244271 rs773976733 |
530 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8244273 rs767157721 |
532 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397427723 rs1229935577 |
532 | A>V | No |
ClinGen gnomAD |
|
|
CA397427741 rs760378368 |
533 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244275 rs760378368 |
533 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244277 rs753722512 |
534 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765195141 CA8244280 |
536 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs765195141 CA8244279 |
536 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8244281 rs758428661 |
537 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA397427870 rs1488655164 |
538 | T>A | No |
ClinGen Ensembl |
|
|
rs1160298693 CA397427871 |
538 | T>S | No |
ClinGen gnomAD |
|
|
rs1287504495 CA397427907 |
539 | S>C | No |
ClinGen gnomAD |
|
|
rs1287504495 CA397427904 |
539 | S>Y | No |
ClinGen gnomAD |
|
|
rs149437163 CA397427922 CA397427935 |
540 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149437163 RCV000415819 CA8244285 |
540 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1567929622 CA397427982 |
542 | T>A | No |
ClinGen Ensembl |
|
|
rs1306879391 CA397428027 |
543 | L>P | No |
ClinGen gnomAD |
|
|
VAR_063610 rs758338586 |
545 | F>L | No |
UniProt dbSNP |
|
|
CA397428081 rs773806649 |
546 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8244290 rs773806649 |
546 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA321526 RCV000197084 rs863224220 |
548 | A>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA8244292 rs771640502 |
548 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244294 rs147706568 |
549 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8244296 rs763854903 |
551 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8244295 rs763854903 |
551 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8244297 rs761552945 |
551 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761552945 CA397428182 |
551 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397428208 rs1435049761 |
553 | L>I | No |
ClinGen TOPMed |
|
|
CA397428230 rs1429693197 |
554 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA397428262 rs1567929709 |
555 | G>R | No |
ClinGen Ensembl |
|
|
CA397430590 rs1356921059 |
557 | A>P | No |
ClinGen gnomAD |
|
|
rs1326875653 CA397430686 |
561 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs114713550 CA397430689 |
561 | K>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1326875653 CA397430681 |
561 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA397430694 rs1241085908 |
562 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA397430699 rs1241085908 |
562 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201229581 CA8244364 |
562 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261309560 CA397430707 |
562 | I>T | No |
ClinGen gnomAD |
|
|
rs752136270 CA286565103 |
563 | L>P | No |
ClinGen Ensembl |
|
|
rs748963233 CA8244365 |
565 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs749919603 CA286565108 |
566 | E>K | No |
ClinGen gnomAD |
|
|
rs577389704 CA397430823 |
567 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA286565128 rs946925151 |
568 | Q>E | No |
ClinGen Ensembl |
|
|
rs376125034 CA8244368 |
569 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772019065 CA8244369 |
570 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1182986881 CA397430942 |
571 | V>I | No |
ClinGen gnomAD |
|
|
CA397431018 rs1250735781 |
574 | H>R | No |
ClinGen TOPMed |
|
|
CA8244372 rs151249432 |
576 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397431065 rs1329063851 |
577 | G>D | No |
ClinGen TOPMed |
|
|
CA8244378 rs760101570 |
581 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs752007398 CA8244377 |
581 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1033130408 CA286565175 |
582 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753337774 CA8244380 |
584 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763578874 CA8244379 |
584 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1057524632 RCV000441326 CA16607146 |
587 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8244382 rs778387199 |
588 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1267143525 CA397431263 |
589 | E>A | No |
ClinGen gnomAD |
|
|
CA8244384 rs758207922 |
589 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA397431288 rs1171567141 |
590 | A>S | No |
ClinGen TOPMed |
|
|
rs1196107974 CA397431297 |
590 | A>V | No |
ClinGen gnomAD |
|
|
rs199804717 CA286565223 |
591 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768774528 CA8244385 |
592 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA397431359 rs1463225651 |
593 | K>* | No |
ClinGen gnomAD |
|
|
rs149749852 CA8244420 |
599 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149749852 CA8244421 |
599 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8244419 rs764645740 |
599 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244422 rs766178577 |
601 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8244424 rs754771891 |
602 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044298211 CA286567340 |
605 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1044298211 CA397432413 |
605 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8244431 rs115278139 |
607 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8244430 rs115278139 |
607 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1458456720 CA397432487 |
609 | M>V | No |
ClinGen TOPMed |
|
|
rs1473947117 CA397432639 |
616 | L>P | No |
ClinGen TOPMed |
|
|
CA8244434 rs375074544 |
617 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397432672 rs1484466134 |
618 | T>A | No |
ClinGen gnomAD |
|
|
CA397432677 rs1189687320 |
618 | T>S | No |
ClinGen gnomAD |
|
|
rs564411648 CA8244435 |
620 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769258044 CA8244436 |
621 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397432735 rs1207271661 |
622 | L>Q | No |
ClinGen TOPMed |
|
|
CA286567377 rs896570007 |
622 | L>V | No |
ClinGen TOPMed |
|
|
rs2058651832 RCV001268121 |
623 | F>missing | No |
ClinVar dbSNP |
|
|
rs17783943 VAR_048117 CA286567383 |
623 | F>C | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA397432752 rs1269038596 |
623 | F>L | No |
ClinGen TOPMed |
|
|
rs17783943 CA397432748 |
623 | F>S | No |
ClinGen TOPMed |
|
|
rs1232695530 CA397432762 |
624 | E>G | No |
ClinGen TOPMed |
|
|
CA8244439 rs766010831 |
625 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762517145 CA8244438 |
625 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8244440 rs774090382 |
626 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA397432808 rs1567933638 RCV000761968 |
628 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs199875564 CA8244441 |
628 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA286567396 rs949436339 |
629 | A>T | No |
ClinGen TOPMed |
|
|
rs1286100422 CA397432827 |
632 | G>E | No |
ClinGen TOPMed |
|
|
rs755972952 CA8244444 |
633 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350253332 CA397432831 |
633 | R>W | No |
ClinGen gnomAD |
|
|
CA397432836 rs1281657901 |
634 | A>S | No |
ClinGen gnomAD |
|
|
rs1219196665 CA397432849 |
636 | E>G | No |
ClinGen gnomAD |
|
|
rs549735647 CA322713 |
637 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8244446 rs757265342 |
638 | L>P | No |
ClinGen ExAC |
|
|
CA397432899 rs1280517363 |
641 | N>S | No |
ClinGen gnomAD |
|
|
rs1028665747 CA286567421 |
642 | E>D | No |
ClinGen Ensembl |
|
|
CA397432910 rs1202120338 |
642 | E>K | No |
ClinGen gnomAD |
|
|
CA397432935 rs778965259 |
643 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8244447 rs778965259 |
643 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA624453131 rs1393335609 |
644 | T>KSQIVTMKK* | No |
ClinGen gnomAD |
|
|
CA8244449 rs758702550 |
644 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA8244496 rs776380988 |
647 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs776380988 CA397433455 |
647 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264847668 CA397433464 |
648 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA286567888 rs974082936 |
649 | D>H | No |
ClinGen Ensembl |
|
| VAR_063615 | 650 | D>H | might be implicated in the hereditary spastic paraplegia phenotype [UniProt] | No | UniProt |
|
rs1433697104 CA397433634 |
652 | R>K | No |
ClinGen gnomAD |
|
|
CA286567897 rs943240329 |
652 | R>S | No |
ClinGen TOPMed |
|
|
RCV000761969 rs1567934232 CA397433698 |
654 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1376898389 CA397433685 |
654 | V>I | No |
ClinGen gnomAD |
|
|
rs762803973 CA8244499 |
655 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs536084933 CA8244500 |
656 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201005087 CA8244502 |
657 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1052772091 CA286567920 |
659 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1567934271 CA397433906 |
665 | F>L | No |
ClinGen Ensembl |
|
|
CA286567921 rs944611963 |
665 | F>L | No |
ClinGen Ensembl |
|
|
RCV001310351 rs2058661636 |
667 | M>missing | No |
ClinVar dbSNP |
|
|
CA286567926 rs1040351890 |
668 | A>P | No |
ClinGen Ensembl |
|
|
rs756487726 CA8244504 |
669 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757758913 CA8244507 |
673 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA286567932 rs137960804 |
674 | I>V | No |
ClinGen ESP |
|
|
rs779591645 CA8244508 |
675 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA397434210 rs1171213688 |
679 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780775425 CA8244510 |
680 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs863224221 CA321378 RCV000196950 |
681 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs747812461 CA8244511 |
682 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs769512676 CA8244512 |
683 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8244516 rs370304458 |
684 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376388546 CA8244515 |
684 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8244513 rs373577226 |
684 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8244514 rs373577226 |
684 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397434291 rs1268821038 |
685 | G>A | No |
ClinGen TOPMed |
|
|
rs1466460380 CA397434283 |
685 | G>C | No |
ClinGen TOPMed |
|
|
CA8244518 rs767715658 |
687 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397434318 rs1249957920 |
688 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8244519 rs370324616 |
689 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397434338 rs148199060 |
689 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA286567956 rs866450383 |
690 | P>L | No |
ClinGen Ensembl |
|
|
rs1460897442 CA397434358 |
691 | F>C | No |
ClinGen gnomAD |
|
|
CA397434354 rs1567934405 |
691 | F>L | No |
ClinGen Ensembl |
|
|
rs121918357 CA397434368 |
692 | S>N | No |
ClinGen gnomAD |
|
|
rs1297741718 CA397434377 |
692 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA286567963 rs116399797 |
694 | G>A | No |
ClinGen 1000Genomes |
|
|
CA8244523 rs372180825 |
701 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286567973 rs372180825 |
701 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8244548 rs777254374 |
703 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397434596 rs1189787304 |
703 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA286568287 rs914466138 |
704 | R>G | No |
ClinGen TOPMed |
|
|
rs753538779 CA8244550 |
705 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs866328570 CA286568315 |
708 | A>T | No |
ClinGen Ensembl |
|
|
rs927057263 CA286568316 |
708 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397434644 rs1369493157 |
709 | K>N | No |
ClinGen gnomAD |
|
|
CA397434640 rs1420552317 |
709 | K>T | No |
ClinGen gnomAD |
|
|
rs778915619 CA8244552 |
711 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1407994278 CA397434670 |
712 | R>G | No |
ClinGen TOPMed |
|
|
CA8244554 rs772184585 |
713 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1398327257 CA397434699 |
714 | T>I | No |
ClinGen TOPMed |
|
|
CA8244556 RCV000478651 rs374302115 |
715 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8244557 rs768805935 |
716 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776661222 CA8244558 |
716 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397434729 rs1480485437 |
717 | V>G | No |
ClinGen TOPMed |
|
|
CA8244560 rs770049503 |
721 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs141556363 CA8244561 |
722 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286568364 rs573903342 |
723 | D>N | No |
ClinGen 1000Genomes |
|
|
CA397434784 rs1484474368 |
723 | D>V | No |
ClinGen gnomAD |
|
|
rs766914135 CA286568373 |
724 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397434813 rs370973066 |
726 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs370973066 CA286568377 |
726 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8244564 rs752094013 |
726 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs760043860 CA8244565 |
727 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244566 rs760043860 RCV000416047 |
727 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA397417386 rs1433673841 |
728 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1597668583 CA397417391 |
728 | L>R | No |
ClinGen Ensembl |
|
|
CA397417388 rs1433673841 RCV000498245 |
728 | L>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1400317400 CA397417400 |
729 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs863224223 RCV000195477 |
730 | N>missing | No |
ClinVar dbSNP |
|
|
CA8244618 rs35749032 |
730 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747521455 CA8244620 |
731 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769426506 CA8244621 |
732 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1449152716 CA397417441 |
733 | L>M | No |
ClinGen gnomAD |
|
|
CA8244622 rs772915345 |
735 | K>E | No |
ClinGen ExAC |
|
|
rs1319206684 CA397417530 |
738 | I>R | No |
ClinGen TOPMed |
|
|
CA8244625 rs770661102 |
740 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286509815 rs138457270 |
740 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA397417565 rs770661102 |
740 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381888395 CA397417573 |
741 | E>K | No |
ClinGen gnomAD |
|
|
CA397417589 rs1442341237 |
742 | D>N | No |
ClinGen gnomAD |
|
|
CA8244628 rs372231786 RCV000520263 |
743 | I>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8244629 rs760661764 |
745 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs760661764 CA397417643 |
745 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764133074 CA8244630 |
747 | I>T | No |
ClinGen ExAC |
|
|
rs753956374 CA8244631 |
749 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379001117 CA397417705 |
751 | P>H | No |
ClinGen gnomAD |
|
|
CA397417709 rs1379001117 |
751 | P>L | No |
ClinGen gnomAD |
|
|
RCV001815338 CA397417713 rs1555618072 |
752 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs758721226 CA8244636 |
754 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397417745 rs758721226 |
754 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750622610 CA8244635 |
754 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244639 rs769336448 |
756 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1438986321 CA397417775 |
756 | K>R | No |
ClinGen gnomAD |
|
|
rs1320393672 CA397417807 RCV000996414 CA397417805 |
757 | M>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs543969977 CA8244640 |
757 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8244641 rs748770498 |
758 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA397417825 rs140769107 |
759 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397417826 rs140769107 |
759 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8244643 rs759117790 |
760 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320656317 CA397417835 |
760 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA286509879 rs765598622 |
761 | Q>* | No |
ClinGen Ensembl |
|
|
rs1269085882 CA397417883 |
763 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs760570043 CA8244645 |
763 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs942740771 CA286509904 |
764 | I>V | No |
ClinGen TOPMed |
|
|
CA8244646 rs374941242 |
765 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765234422 CA8244647 |
766 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8244649 rs199519341 |
767 | Q>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs1438518759 CA397417936 |
768 | R>K | No |
ClinGen TOPMed |
|
|
rs863224214 RCV000198389 CA322895 |
771 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1567936828 CA397417962 |
771 | Q>H | No |
ClinGen Ensembl |
|
|
rs766743469 CA8244651 |
772 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA397417966 rs1235854891 |
772 | D>Y | No |
ClinGen TOPMed |
|
|
CA397417972 rs1295336150 |
773 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8244653 rs752011818 |
774 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA397417985 rs1293899912 |
775 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1042217341 CA286509945 |
776 | E>K | No |
ClinGen Ensembl |
|
|
rs1219631893 CA397418004 |
777 | E>D | No |
ClinGen gnomAD |
|
|
CA8244654 rs755429163 |
779 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397418027 rs1597668897 |
781 | T>P | No |
ClinGen Ensembl |
|
|
CA286509957 rs896377616 |
782 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs781747906 CA8244655 |
783 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748680566 CA8244656 |
785 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8244657 rs756722955 |
786 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756722955 CA397418058 |
786 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778342296 CA8244658 |
787 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778342296 CA397418066 |
787 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372033226 CA286509978 |
789 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8244660 rs372033226 |
789 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746756159 CA8244662 |
791 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286509992 rs746756159 |
791 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776482494 CA8244664 |
793 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8244665 rs372824496 |
793 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397418107 rs1453332359 |
794 | P>H | No |
ClinGen gnomAD |
|
|
CA397418115 rs1362681349 |
795 | K>T | No |
ClinGen gnomAD |
|
|
CA397418121 rs763204452 |
796 | K>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763204452 CA8244668 |
796 | K>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9UQ90
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| m-AAA complex | Protease complex of the mitochondrial inner membrane that is involved in mitochondrial protein turnover and in processing of proteins imported into mitochondria. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial permeability transition pore complex | A protein complex that connects the inner and outer membranes of animal mitochondria and acts as a pore that can open transiently to allow free diffusion of solutes between the mitochondrial matrix and the cytosol. The pore complex is formed of the voltage-dependent anion channel (VDAC), the adenine nucleotide translocase (ANT) and cyclophilin-D (CyP-D). |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
7 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. |
| ATP-dependent peptidase activity | Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| peptidase activity | Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. |
| unfolded protein binding | Binding to an unfolded protein. |
| zinc ion binding | Binding to a zinc ion (Zn). |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| anterograde axonal transport | The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. |
| mitochondrial outer membrane permeabilization involved in programmed cell death | The process by which the mitochondrial outer membrane becomes permeable to the passing of proteins and other molecules from the intermembrane space to the cytosol as part of a programmed cell death process. |
| mitochondrial protein processing | The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| regulation of mitochondrial membrane permeability | Any process that modulates the frequency, rate or extent of the passage or uptake of molecules by the mitochondrial membrane. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KJI7 | AFG3L2 | AFG3-like protein 2 | Bos taurus (Bovine) | PR |
| Q9Y4W6 | AFG3L2 | AFG3-like protein 2 | Homo sapiens (Human) | PR |
| Q3ULF4 | Spg7 | Paraplegin | Mus musculus (Mouse) | PR |
| Q7TT47 | Spg7 | Paraplegin | Rattus norvegicus (Rat) | PR |
| Q8W585 | FTSH8 | ATP-dependent zinc metalloprotease FTSH 8, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVLLLLLRA | LRRGPGPGPR | PLWGPGPAWS | PGFPARPGRG | RPYMASRPPG | DLAEAGGRAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QSLQLRLLTP | TFEGINGLLL | KQHLVQNPVR | LWQLLGGTFY | FNTSRLKQKN | KEKDKSKGKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PEEDEEERRR | RERDDQMYRE | RLRTLLVIAV | VMSLLNALST | SGGSISWNDF | VHEMLAKGEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QRVQVVPESD | VVEVYLHPGA | VVFGRPRLAL | MYRMQVANID | KFEEKLRAAE | DELNIEAKDR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IPVSYKRTGF | FGNALYSVGM | TAVGLAILWY | VFRLAGMTGR | EGGFSAFNQL | KMARFTIVDG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KMGKGVSFKD | VAGMHEAKLE | VREFVDYLKS | PERFLQLGAK | VPKGALLLGP | PGCGKTLLAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AVATEAQVPF | LAMAGPEFVE | VIGGLGAARV | RSLFKEARAR | APCIVYIDEI | DAVGKKRSTT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MSGFSNTEEE | QTLNQLLVEM | DGMGTTDHVI | VLASTNRADI | LDGALMRPGR | LDRHVFIDLP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLQERREIFE | QHLKSLKLTQ | SSTFYSQRLA | ELTPGFSGAD | IANICNEAAL | HAAREGHTSV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HTLNFEYAVE | RVLAGTAKKS | KILSKEEQKV | VAFHESGHAL | VGWMLEHTEA | VMKVSITPRT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NAALGFAQML | PRDQHLFTKE | QLFERMCMAL | GGRASEALSF | NEVTSGAQDD | LRKVTRIAYS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MVKQFGMAPG | IGPISFPEAQ | EGLMGIGRRP | FSQGLQQMMD | HEARLLVAKA | YRHTEKVLQD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NLDKLQALAN | ALLEKEVINY | EDIEALIGPP | PHGPKKMIAP | QRWIDAQREK | QDLGEEETEE |
| 790 | |||||
| TQQPPLGGEE | PTWPK |