Q12768
PR
Gene name |
WASHC5 |
Protein name |
WASH complex subunit 5 |
Names |
Strumpellin, WASH complex subunit strumpellin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9897 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q12768
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q12768-F1 | Predicted | AlphaFoldDB |
875 variants for Q12768
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4874207 RCV001350859 rs200850741 |
41 | R>K | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1357562835 RCV001313403 CA372268211 RCV001847236 |
48 | Q>R | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA338719 rs199936194 RCV001320209 RCV000199557 |
54 | I>T | Hereditary spastic paraplegia 8 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4874204 rs751591590 RCV002234710 |
56 | F>L | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001267231 rs1586390087 |
78 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4874163 RCV001566614 RCV000296727 rs142907217 RCV000983931 |
106 | I>V | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA372267310 RCV002233427 rs1563636568 |
138 | L>R | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA372267286 RCV000999068 RCV000988116 rs148562491 |
140 | C>* | Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1817270519 RCV001302909 |
149 | M>V | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1462319941 RCV002233667 CA372266874 |
171 | R>* | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1739482 rs1362286755 CA372196703 RCV002234921 |
176 | R>* | Hereditary spastic paraplegia 8 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs1817146560 RCV001315153 |
181 | S>T | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA372196447 RCV002235401 COSM1454757 rs1586384678 |
191 | R>Q | Hereditary spastic paraplegia 8 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001848066 CA4874069 rs150026441 RCV000346292 RCV000861398 |
206 | N>S | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002480734 rs565980279 RCV001223135 RCV002562577 CA4874065 |
209 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome 1 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA249149 RCV001847913 RCV000767086 RCV001490442 RCV001163829 rs141234822 RCV000202950 |
213 | Q>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001086849 CA4874059 rs72720524 RCV000498521 RCV001662485 RCV001163828 |
216 | P>L | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000261440 RCV002518352 CA4874056 rs143719918 |
219 | E>K | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4874052 rs755285830 VAR_069984 |
226 | I>T | SPG8; dopamine responsive spasticity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000707560 rs754463353 CA4874051 |
228 | R>* | Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1817137048 RCV001224886 |
230 | R>K | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002233218 rs1563633906 RCV002293471 CA891842498 |
235 | Y>* | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204701 CA4874019 rs765982075 |
245 | E>D | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001266862 CA4874017 rs772967274 |
247 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001221301 CA185322393 rs1020805660 |
287 | N>S | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001201560 CA185322391 rs1019440298 |
288 | W>S | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4873984 RCV000638549 rs753529606 |
291 | S>N | Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1218811554 RCV001227387 CA372195068 |
292 | I>T | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001306064 rs755946575 |
294 | M>L | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150430170 RCV000202751 CA248939 RCV002517353 RCV001439371 |
336 | R>T | Hereditary spastic paraplegia 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313396 rs764020658 |
347 | E>missing | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262565 rs758822672 |
378 | L>R | Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001163529 RCV000685841 CA4873900 rs151298198 RCV002544726 RCV001574559 |
393 | R>H | Hereditary spastic paraplegia 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000302529 CA4873898 rs142423043 RCV001289256 RCV000860686 |
396 | K>R | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4873893 RCV001163528 rs753133551 RCV001882523 |
404 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 8 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1328488239 RCV001321953 CA372193603 |
412 | Q>R | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000478039 RCV001848853 CA16618595 rs1064796966 |
413 | L>R | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4873869 rs766713240 RCV002234813 |
433 | S>P | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886062654 RCV000346681 COSM1095965 CA10624681 |
447 | S>L | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 8 endometrium breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4873861 rs202165114 COSM1095964 RCV001512118 |
449 | R>Q | Hereditary spastic paraplegia 8 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs377351903 RCV001160152 |
451 | T>S | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_031955 CA339874 rs80338865 RCV000001222 |
471 | N>D | Hereditary spastic paraplegia 8 SPG8; does not alter subcellular distribution; no effect on its binding to VCP; no effect on assembly in the WASH complex [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1030054011 RCV001313795 CA185309113 |
475 | W>* | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1816581809 RCV001160151 |
489 | D>Y | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000517768 RCV001160150 rs766834356 RCV002525106 CA4873778 RCV001755774 |
526 | D>N | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000171420 CA236317 RCV001158802 rs749056160 |
557 | A>T | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1816510758 RCV001219723 |
569 | Q>E | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA372191709 rs761801345 RCV002233288 RCV001391385 |
583 | R>G | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA372191452 RCV001268029 RCV000585718 RCV001069360 rs1554593899 |
591 | S>F | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA372191456 RCV000825002 RCV001542471 RCV000555090 rs1554593901 |
591 | S>P | Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032101 RCV001847626 CA251713 RCV001851527 RCV000001221 VAR_031956 CA343118 rs80338866 |
619 | L>F | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 SPG8; fails to rescue the curly phenotype in a zebrafish model; no effect on assembly in the WASH complex [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
| VAR_072417 | 620 | V>A | SPG8 [UniProt] | Yes | UniProt |
|
RCV001847561 VAR_031957 rs80338867 CA339873 RCV002227984 RCV000001220 |
626 | V>F | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 SPG8; fails to rescue the curly phenotype in a zebrafish model; no effect on assembly in the WASH complex [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001535453 rs1816420898 RCV001055513 |
628 | Q>R | Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000999065 RCV001847133 RCV001230127 rs1586359734 CA372191183 |
631 | P>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768146940 RCV001035223 |
634 | M>K | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002528904 CA4873676 RCV000638547 rs758919422 RCV001849013 |
648 | D>N | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002232988 RCV002536403 CA4873664 rs763639768 |
668 | G>V | Hereditary spastic paraplegia 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000055943 CA345045 rs397515564 VAR_069985 |
696 | G>A | Hereditary spastic paraplegia 8 SPG8 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002232914 CA372190112 RCV001391387 rs397515564 |
696 | G>D | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612351 RCV002230093 RCV000490087 rs1060502725 RCV001391386 |
696 | G>S | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554593551 RCV002234005 |
698 | I>missing | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854987 RCV001350492 RCV000227999 CA10582555 |
713 | E>K | Hereditary spastic paraplegia 8 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586352875 CA372189579 RCV000801541 |
720 | F>V | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4873567 rs780719370 RCV001331905 |
753 | R>C | Variant assessed as Somatic; 0.0 impact. Ritscher-Schinzel syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002473132 rs750463169 RCV000785132 CA4873559 |
776 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 8 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001163719 rs146623998 RCV002264144 RCV001035267 CA4873557 |
778 | I>V | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001069580 rs1419129064 CA372188982 |
804 | T>A | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000416031 CA4873528 RCV001201348 rs144507279 RCV001848738 RCV000638546 |
808 | I>V | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002538699 RCV001730160 rs780468544 CA4873526 |
810 | K>M | Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000196646 CA336605 rs140742485 |
810 | K>N | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4873512 rs749703625 RCV001267232 |
830 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs553869211 RCV001331906 CA4873495 RCV002546518 RCV001847244 |
845 | T>A | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002518007 CA4873488 RCV000330165 rs202015963 |
859 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 8 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA372188303 rs1289915533 RCV001163717 |
876 | L>S | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4873452 RCV002473252 RCV001391467 rs367744328 RCV001340701 |
918 | P>S | Hereditary spastic paraplegia 8 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001069120 rs1815970512 |
930 | Y>S | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1815967070 RCV001331907 |
950 | K>R | Ritscher-Schinzel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001848858 rs748167994 RCV000489354 CA4873397 |
963 | N>S | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324800 CA4873357 RCV001848811 rs142883794 RCV001508620 RCV000475955 |
991 | I>T | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002231723 CA372184985 rs1554591077 |
991 | I>V | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002233608 rs765926045 |
1009 | L>missing | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002233721 rs767608029 CA4873339 |
1016 | Y>C | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001163432 rs150819213 CA4873338 |
1022 | I>T | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000462563 RCV001319593 rs761500521 RCV001848812 CA4873308 |
1035 | R>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4873307 RCV001163431 RCV001882521 rs775752911 |
1040 | P>A | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4873281 RCV000321879 RCV001326734 rs149383757 |
1067 | P>L | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 8 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762522662 CA4873265 RCV002235340 |
1090 | R>Q | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001847814 RCV000176753 CA242783 RCV001852179 rs373599521 RCV000230776 |
1099 | I>T | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000443176 RCV001847794 RCV000176752 CA202092 rs138407503 COSM328239 RCV000327803 RCV001081808 |
1107 | V>M | Hereditary spastic paraplegia Hereditary spastic paraplegia 8 pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761053851 CA4873253 RCV001044136 |
1110 | C>Y | Hereditary spastic paraplegia 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4873229 RCV001246597 RCV002564104 rs202184316 |
1119 | P>R | Hereditary spastic paraplegia 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 3 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372268818 rs1325051146 |
3 | D>V | No |
ClinGen gnomAD |
|
|
CA4874228 rs771705778 |
4 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs780408982 CA4874226 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3698826 CA4874224 rs376301577 |
7 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372268675 rs1389361048 |
9 | N>K | No |
ClinGen gnomAD |
|
|
CA4874223 rs781756466 |
9 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185466861 rs900803991 |
11 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4874222 rs549678165 |
13 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372268614 rs1406867889 |
15 | I>L | No |
ClinGen gnomAD |
|
|
CA4874220 rs764257486 |
16 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4874219 rs763163919 |
17 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4874217 rs765134657 |
18 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs752444456 CA4874218 |
18 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs759319069 CA4874216 |
21 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA372268529 rs1246631830 |
22 | G>S | No |
ClinGen gnomAD |
|
|
CA4874215 rs371720502 |
23 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 24 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770831804 CA4874214 |
26 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1482197018 CA372268388 |
29 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA185466860 rs879113526 |
39 | V>L | No |
ClinGen Ensembl |
|
|
CA372268258 rs1394357211 |
41 | R>S | No |
ClinGen gnomAD |
|
|
rs1563637462 CA372268242 |
44 | D>N | No |
ClinGen Ensembl |
|
|
rs1455655161 CA372268234 |
45 | R>G | No |
ClinGen gnomAD |
|
|
COSM3834033 CA4874206 rs746215387 |
46 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4874205 rs781770954 |
48 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1388669201 CA372268195 |
50 | K>R | No |
ClinGen gnomAD |
|
|
rs199936194 CA372268165 |
54 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758008454 CA185466859 |
55 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA185466858 rs987773570 |
57 | D>N | No |
ClinGen Ensembl |
|
|
rs755857918 CA4874177 |
63 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755857918 CA372268093 |
63 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755857918 CA4874176 |
63 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372268090 rs1158848415 |
63 | G>V | No |
ClinGen gnomAD |
|
|
CA372268087 rs1410866648 |
64 | P>S | No |
ClinGen gnomAD |
|
|
rs1178466001 CA372268067 |
67 | W>* | No |
ClinGen gnomAD |
|
|
CA185466820 rs767336696 |
67 | W>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4874174 rs767336696 |
67 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA372268052 rs1480742142 |
69 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs761410643 CA4874173 |
69 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA372268019 rs1489395046 |
74 | K>Q | No |
ClinGen TOPMed |
|
|
rs1586390087 CA372267992 |
78 | Q>E | No |
ClinGen Ensembl |
|
|
CA372267988 RCV001200486 rs1448889893 |
78 | Q>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA372267982 rs1262690600 |
79 | D>Y | No |
ClinGen gnomAD |
|
|
CA372267969 rs1208411122 |
81 | D>N | No |
ClinGen gnomAD |
|
|
CA4874172 rs371245542 |
85 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4874171 rs763847351 |
85 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762641392 CA4874170 |
86 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4874169 rs775264697 |
89 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1273371613 CA372267881 |
93 | T>S | No |
ClinGen gnomAD |
|
|
CA185466819 rs1026657464 |
98 | A>T | No |
ClinGen TOPMed |
|
|
rs536198661 CA4874166 |
99 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA185466818 rs886535697 |
101 | S>I | No |
ClinGen Ensembl |
|
|
CA4874165 rs200820805 |
103 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1352139973 CA372267789 |
104 | K>E | No |
ClinGen TOPMed |
|
|
CA372267771 rs1385761717 |
105 | Y>C | No |
ClinGen gnomAD |
|
|
CA372267718 rs1170817554 |
110 | N>H | No |
ClinGen gnomAD |
|
|
rs1476263456 CA372267705 |
110 | N>I | No |
ClinGen gnomAD |
|
|
CA185466756 rs527799541 |
111 | R>S | No |
ClinGen gnomAD |
|
|
rs764771958 CA4874152 |
112 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA4874151 rs761122163 |
114 | D>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000999069 CA372267467 rs1586389198 |
115 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 116 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311400326 CA372267462 |
116 | L>V | No |
ClinGen TOPMed |
|
|
CA4874149 rs772639041 |
117 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368728041 CA4874148 |
120 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368728041 CA372267435 |
120 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 121 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372267393 rs1280634768 |
126 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 127 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 128 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768762733 CA4874144 |
130 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs560264416 CA4874142 |
132 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4874140 rs745676442 |
132 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs769865408 CA4874141 |
132 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372267334 rs1179043415 |
135 | G>R | No |
ClinGen gnomAD |
|
|
rs373543293 CA4874137 |
136 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373543293 CA4874138 |
136 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 136 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563636576 CA372267313 |
138 | L>F | No |
ClinGen Ensembl |
|
|
CA4874123 rs369064847 |
140 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369064847 CA4874122 |
140 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4874120 rs781477272 |
142 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244607930 CA372267264 |
143 | L>P | No |
ClinGen gnomAD |
|
|
CA372267257 rs770894452 |
144 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770894452 CA4874119 |
144 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA185466706 rs746781517 |
145 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs923684817 CA185466705 |
145 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758373492 CA4874116 |
146 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758373492 CA185466704 |
146 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185466703 rs979115163 |
147 | G>R | No |
ClinGen TOPMed |
|
|
CA372267185 rs1285606315 |
148 | V>A | No |
ClinGen TOPMed |
|
|
CA372267147 COSM1095971 CA372267144 rs1365304145 |
149 | M>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4874114 rs778229822 |
150 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185466702 rs6470336 |
151 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs865804623 CA185466701 |
152 | V>A | No |
ClinGen Ensembl |
|
|
CA372267111 rs1563636104 |
153 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 156 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 156 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4874111 rs533483896 |
157 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757639369 CA372267051 |
157 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs757639369 CA4874110 |
157 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1563636087 CA372266995 |
162 | R>G | No |
ClinGen Ensembl |
|
|
rs764586805 CA4874107 |
164 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs923543519 CA185466699 |
165 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 168 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206288644 CA372266890 |
170 | Y>H | No |
ClinGen gnomAD |
|
|
CA4874103 rs1554597502 |
171 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1232509911 CA372266867 |
172 | Y>H | No |
ClinGen gnomAD |
|
|
CA372196722 rs1253867006 |
174 | A>V | No |
ClinGen gnomAD |
|
|
CA4874081 rs760924345 |
175 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766715153 CA4874082 |
175 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1211805878 CA372196700 |
176 | R>Q | No |
ClinGen gnomAD |
|
|
CA372196683 rs1220896868 |
177 | S>F | No |
ClinGen TOPMed |
|
|
CA372196673 rs1264869825 |
178 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372196654 rs1586384726 |
179 | A>G | No |
ClinGen Ensembl |
|
|
rs1289502645 CA372196587 |
183 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4874075 rs748751233 |
191 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA372196441 rs1391012034 |
192 | S>N | No |
ClinGen gnomAD |
|
|
CA372196430 rs1180756291 |
194 | G>S | No |
ClinGen TOPMed |
|
|
CA4874074 rs779478634 |
197 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs755605454 CA4874073 |
198 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA185324256 rs957282087 |
199 | P>R | No |
ClinGen TOPMed |
|
|
rs1159762463 CA372196386 |
200 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372196385 rs1249273582 |
201 | A>T | No |
ClinGen gnomAD |
|
|
rs1200736628 CA372196378 |
202 | K>E | No |
ClinGen gnomAD |
|
|
rs573689796 CA372196369 |
203 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs573689796 CA4874071 |
203 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1300149475 CA372196358 |
205 | S>P | No |
ClinGen TOPMed |
|
|
rs1466285932 CA372196353 |
206 | N>H | No |
ClinGen gnomAD |
|
|
CA372196342 rs1030337804 |
207 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA185324237 rs1030337804 |
207 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755448134 CA4874068 |
208 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185324230 rs267601767 |
208 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA372196338 rs755448134 |
208 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4874064 rs750722513 |
210 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4874061 rs150749307 |
211 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4874062 rs761542067 |
211 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4874063 rs767797666 |
211 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs769329154 CA4874058 |
217 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143719918 CA372196268 |
219 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372196264 rs886062655 |
219 | E>D | No |
ClinGen gnomAD |
|
|
CA4874054 CA372196226 rs748469220 |
224 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372196229 rs1208195223 |
224 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779280297 CA4874053 |
225 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA372196217 rs755285830 |
226 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4874050 rs138222483 |
228 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372196204 rs17852423 |
229 | L>Q | No |
ClinGen TOPMed |
|
|
rs17852423 CA185324114 |
229 | L>R | No |
ClinGen TOPMed |
|
|
rs374677612 CA4874049 |
229 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750489615 CA4874048 |
234 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329143155 CA372195520 |
240 | A>E | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752453684 CA4874023 |
241 | Y>F | No |
ClinGen ExAC |
|
|
rs142924639 CA4874022 |
242 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759414886 CA4874021 |
244 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1182524560 CA372195468 |
245 | E>Q | No |
ClinGen gnomAD |
|
|
rs760072708 CA4874018 |
246 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA185322520 rs976509563 COSM1095967 |
247 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA372195437 rs772967274 |
247 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185322515 rs571073793 |
248 | S>T | No |
ClinGen 1000Genomes |
|
|
CA4874014 rs752075180 |
250 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1251586680 CA372195388 |
251 | L>R | No |
ClinGen gnomAD |
|
|
CA372195379 rs1586381612 |
252 | A>E | No |
ClinGen Ensembl |
|
|
rs1279296465 CA372195374 |
253 | N>D | No |
ClinGen TOPMed |
|
|
CA372195370 rs1586381601 |
253 | N>T | No |
ClinGen Ensembl |
|
|
rs1203938108 CA372195357 |
254 | Q>* | No |
ClinGen gnomAD |
|
|
CA4874013 rs749673994 |
255 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs960568727 CA185322512 |
257 | M>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 257 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370317854 CA4874012 |
257 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746440400 CA4874010 |
259 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs747008037 CA4874007 |
260 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757403142 CA4874008 |
260 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4874006 rs778091462 |
261 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351830305 CA372195287 |
261 | I>N | No |
ClinGen gnomAD |
|
|
CA4874005 rs202223127 |
263 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA185322490 rs202223127 |
263 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs978087093 CA185322475 |
264 | F>S | No |
ClinGen TOPMed |
|
|
rs752504835 CA4874004 |
266 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs964631199 CA185322461 |
267 | S>F | No |
ClinGen TOPMed |
|
|
rs968665831 CA185322459 |
268 | I>V | No |
ClinGen TOPMed |
|
|
rs1161953944 CA372195231 |
270 | H>P | No |
ClinGen gnomAD |
|
|
CA372195233 rs1415823466 |
270 | H>Y | No |
ClinGen gnomAD |
|
|
rs1411616706 CA372195223 |
271 | T>S | No |
ClinGen gnomAD |
|
|
CA4874003 rs765078308 |
272 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA372195205 rs1298337653 |
274 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA185322444 rs112220036 |
275 | K>I | No |
ClinGen Ensembl |
|
|
CA4874002 rs754764954 |
276 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4874001 rs200208154 |
278 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA185322432 rs200208154 |
278 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA185322427 rs1017918751 |
279 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA185322425 rs979381860 |
280 | V>G | No |
ClinGen Ensembl |
|
|
CA185322418 rs766204898 |
284 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899944829 CA372195129 |
285 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA185322406 rs899944829 |
285 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754817831 CA4873985 |
290 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA4873983 rs369905730 |
291 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4873982 rs755946575 |
294 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873981 rs750359176 |
295 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767202456 CA4873980 |
296 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA372195043 rs1388063973 |
296 | I>V | No |
ClinGen gnomAD |
|
|
CA185321247 rs990658714 |
299 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA185321230 rs927820649 |
301 | V>A | No |
ClinGen TOPMed |
|
|
rs377540152 CA185321204 |
305 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs918222339 CA185321199 |
306 | P>T | No |
ClinGen Ensembl |
|
|
rs1392863187 CA372194970 |
307 | Y>C | No |
ClinGen gnomAD |
|
|
CA4873978 rs369907672 |
309 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763787485 CA4873977 |
310 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs557683375 CA4873976 |
312 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA372194926 rs1391675488 |
314 | L>S | No |
ClinGen TOPMed |
|
|
CA4873974 rs776798177 |
315 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4873973 rs544167764 |
319 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761147150 CA4873972 |
325 | E>G | No |
ClinGen ExAC |
|
|
CA4873960 rs751070296 |
327 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763847276 CA4873959 |
329 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 330 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873958 rs762459528 |
330 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873955 rs761071057 |
331 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4873956 rs766724318 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4873954 rs773757392 |
333 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA372194491 rs1563630992 |
333 | V>I | No |
ClinGen Ensembl |
|
|
rs772521167 CA4873953 |
334 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761914653 CA4873952 |
335 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873951 rs774355656 |
335 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372194428 rs1413503384 |
337 | V>L | No |
ClinGen gnomAD |
|
|
rs1554596260 CA372194379 RCV000579234 |
340 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779768001 CA4873949 |
340 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372194349 rs1296153120 |
342 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372194316 rs1164083547 |
344 | F>Y | No |
ClinGen gnomAD |
|
|
CA372194280 rs1182621910 |
349 | Y>C | No |
ClinGen gnomAD |
|
|
CA372194284 rs1413813754 |
349 | Y>N | No |
ClinGen gnomAD |
|
|
CA372194252 rs1248655354 |
353 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372194254 rs1248655354 |
353 | E>K | No |
ClinGen gnomAD |
|
|
rs1011366421 CA185319891 |
354 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA185319856 rs371764760 |
357 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs757190362 CA4873944 |
357 | D>V | No |
ClinGen ExAC |
|
|
CA372194204 rs1231934033 |
360 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4873941 rs777485983 |
363 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1334410488 CA372194180 |
364 | N>T | No |
ClinGen gnomAD |
|
|
CA4873939 rs372295027 |
364 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4873937 rs756457820 |
365 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750747652 CA4873936 |
366 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4873934 rs750814654 |
367 | R>G | No |
ClinGen TOPMed |
|
|
CA185319765 rs1052775547 |
368 | D>A | No |
ClinGen Ensembl |
|
|
rs1412138089 CA372194149 |
369 | C>G | No |
ClinGen TOPMed |
|
|
COSM1662420 rs368495548 CA4873933 |
370 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1563630839 CA372194125 |
372 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA372194123 rs1418082986 |
373 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4873932 rs762363112 |
374 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764120080 CA4873931 |
374 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs764120080 CA4873930 |
374 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs867405160 CA185319744 |
375 | W>* | No |
ClinGen Ensembl |
|
|
CA4873929 rs534621913 |
377 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372194098 rs1469408651 |
377 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758822672 CA4873928 |
378 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA372194085 rs1433996127 |
379 | H>R | No |
ClinGen gnomAD |
|
|
CA372194077 rs1211895824 |
380 | T>I | No |
ClinGen gnomAD |
|
|
rs1466358179 CA372194070 |
381 | A>V | No |
ClinGen gnomAD |
|
|
rs1269297223 CA372194056 |
383 | S>L | No |
ClinGen gnomAD |
|
|
rs779339814 CA185319737 |
384 | A>T | No |
ClinGen Ensembl |
|
|
rs527915947 CA185315316 |
389 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4873901 rs778430741 COSM77946 |
391 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1454756 rs754246927 CA185315302 |
391 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1167417440 CA372193836 |
393 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748979778 CA4873899 |
396 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 396 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586371687 CA372193767 |
397 | D>A | No |
ClinGen Ensembl |
|
|
CA4873897 rs757637298 |
398 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1048518696 CA185315260 |
399 | I>F | No |
ClinGen Ensembl |
|
|
rs376137431 CA4873896 |
400 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4873894 rs758878691 |
404 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873892 rs765426585 |
405 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA372193658 rs1336937876 |
405 | Y>N | No |
ClinGen gnomAD |
|
|
CA4873891 rs759661003 |
406 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200456170 CA4873890 |
406 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411831571 CA372193620 |
410 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760578846 CA4873888 |
419 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs374087596 CA4873887 |
420 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474476303 CA372193536 |
422 | F>S | No |
ClinGen gnomAD |
|
|
rs1176220659 CA372193319 |
427 | M>I | No |
ClinGen gnomAD |
|
|
rs753930852 CA4873870 |
429 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs756348666 CA4873868 |
433 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA185311402 rs1025362157 |
434 | E>A | No |
ClinGen TOPMed |
|
|
CA4873866 rs767384956 |
435 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1283309196 CA372193218 |
441 | H>R | No |
ClinGen gnomAD |
|
|
rs1018488237 CA185311364 |
441 | H>Y | No |
ClinGen Ensembl |
|
|
CA372193200 rs1369996388 |
443 | K>N | No |
ClinGen gnomAD |
|
|
CA4873863 COSM486069 rs369756799 |
444 | K>E | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs886062654 CA372193174 |
447 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372193168 rs1222459167 |
448 | E>G | No |
ClinGen TOPMed |
|
|
rs886062653 CA372193163 |
449 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA185311325 rs111845457 |
450 | M>T | No |
ClinGen Ensembl |
|
|
rs377351903 CA4873859 |
451 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4873858 rs745604572 |
451 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4873857 rs776120407 |
454 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4873856 rs772540847 |
458 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM4138624 CA4873855 rs748416403 |
459 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 459 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372193095 rs1190367235 |
460 | V>L | No |
ClinGen gnomAD |
|
|
CA4873854 rs779595361 |
462 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755476381 CA4873853 |
464 | T>I | No |
ClinGen ExAC |
|
|
rs749394619 CA4873852 |
466 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1313787976 CA372193035 |
469 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1009030491 CA185309116 |
473 | Q>R | No |
ClinGen Ensembl |
|
|
CA4873822 rs376926891 |
476 | F>L | No |
ClinGen ESP ExAC |
|
|
rs1586364690 CA372192604 |
477 | R>T | No |
ClinGen Ensembl |
|
|
CA4873821 rs760303858 |
479 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs139103217 CA4873820 |
480 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372192581 rs1293276917 |
481 | K>E | No |
ClinGen gnomAD |
|
|
rs763360301 CA4873818 |
481 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA372192566 rs1352758782 |
483 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372192554 rs1391637094 |
484 | L>F | No |
ClinGen gnomAD |
|
|
rs1460227616 CA372192549 |
485 | S>F | No |
ClinGen gnomAD |
|
|
CA4873817 rs776172096 |
489 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586364627 CA372192510 |
490 | D>E | No |
ClinGen Ensembl |
|
|
rs1563624000 CA372192512 |
490 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 494 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873814 rs372031408 |
494 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747268795 CA4873812 |
496 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs369308155 CA185309027 |
497 | K>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 498 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752453541 CA4873809 |
499 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4873810 rs527434329 |
499 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372192434 rs1469001345 |
503 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372192405 rs1353228237 |
507 | E>A | No |
ClinGen gnomAD |
|
|
CA4873806 rs753801348 |
507 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754799193 CA4873789 |
508 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4873788 rs749225659 |
509 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1328127304 CA372192381 |
509 | Q>R | No |
ClinGen gnomAD |
|
|
CA4873787 rs779990908 |
512 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185307755 rs878904290 |
512 | H>R | No |
ClinGen Ensembl |
|
|
CA185307757 rs779990908 |
512 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394493824 CA372192339 |
515 | E>Q | No |
ClinGen gnomAD |
|
|
CA372192330 rs1459956773 |
516 | S>Y | No |
ClinGen TOPMed |
|
|
CA4873784 rs368546546 |
517 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368546546 CA4873785 |
517 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372192306 rs1193153808 |
520 | V>I | No |
ClinGen gnomAD |
|
|
CA4873780 rs759920386 |
525 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs759920386 CA372192268 |
525 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4873777 rs760751935 |
526 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340926359 CA372192263 |
526 | D>E | No |
ClinGen gnomAD |
|
|
rs150556994 CA4873776 |
527 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4873775 rs772125838 |
528 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748436437 CA372192255 |
528 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748436437 CA372192254 |
528 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873774 rs748436437 |
528 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873773 rs184557946 |
530 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372192229 rs1307768088 |
532 | H>R | No |
ClinGen TOPMed |
|
|
RCV000993076 CA372192224 rs1586362593 |
533 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA185307616 rs143654828 |
535 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1369727995 CA372192187 |
538 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1032695387 CA185307597 |
540 | I>T | No |
ClinGen gnomAD |
|
|
CA372192159 rs1397326290 |
542 | E>K | No |
ClinGen gnomAD |
|
|
CA372192141 rs1259540528 |
544 | V>F | No |
ClinGen TOPMed |
|
|
rs138176168 CA4873770 |
548 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756057285 CA4873769 |
549 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA372192104 rs1420288522 |
550 | I>F | No |
ClinGen TOPMed |
|
|
CA4873765 rs751217031 |
551 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372192096 rs374338104 |
551 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4873766 rs374338104 |
551 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs757034696 CA185307504 |
552 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372192061 rs199725572 |
556 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372192060 rs749056160 |
557 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052813631 CA185307484 |
558 | W>R | No |
ClinGen TOPMed |
|
|
rs1393323434 CA372192046 |
559 | Q>E | No |
ClinGen gnomAD |
|
|
rs1292184472 CA372192030 |
561 | I>N | No |
ClinGen TOPMed |
|
|
CA4873763 rs368293350 |
561 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4873743 rs752278932 |
571 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4873742 rs780468525 |
572 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs947030438 CA185307304 |
574 | V>L | No |
ClinGen TOPMed |
|
|
rs201037200 CA185307278 |
576 | P>S | No |
ClinGen Ensembl |
|
|
CA372191785 rs1327118501 |
578 | M>V | No |
ClinGen gnomAD |
|
|
rs1434682175 CA372191725 |
582 | L>F | No |
ClinGen TOPMed |
|
|
rs1348442549 CA372191701 |
583 | R>I | No |
ClinGen gnomAD |
|
|
rs1486049982 CA372191463 |
590 | A>P | No |
ClinGen gnomAD |
|
|
rs756495338 CA4873720 |
594 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873718 rs781671238 |
599 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873717 rs143786044 |
599 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1298306539 CA372191394 |
601 | N>S | No |
ClinGen gnomAD |
|
|
CA4873716 rs752001123 |
604 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372191356 rs1361614636 |
606 | P>L | No |
ClinGen gnomAD |
|
|
CA4873714 rs762919398 |
608 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374908986 CA372191340 |
609 | L>P | No |
ClinGen gnomAD |
|
|
CA4873711 rs759411520 |
613 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765513981 CA4873712 |
613 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4873710 rs776512116 |
615 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1422903801 CA372191301 |
615 | Y>D | No |
ClinGen gnomAD |
|
|
CA372191292 rs1057518000 |
616 | S>C | No |
ClinGen gnomAD |
|
|
rs1057518000 CA16042608 RCV000414594 |
616 | S>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA372191287 COSM3834031 rs1258459680 |
617 | G>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA372191286 rs1258459680 |
617 | G>V | No |
ClinGen gnomAD |
|
|
rs1467718641 CA372191281 |
618 | E>G | No |
ClinGen gnomAD |
|
|
rs1200114729 CA372191284 |
618 | E>K | No |
ClinGen gnomAD |
|
|
rs1482293036 CA372191272 |
620 | V>I | No |
ClinGen gnomAD |
|
|
CA372191255 rs1253149472 |
622 | Y>F | No |
ClinGen gnomAD |
|
|
rs1307409056 CA372191235 |
625 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 627 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185305309 rs868134220 |
628 | Q>* | No |
ClinGen Ensembl |
|
|
CA372191207 RCV000713492 rs868134220 |
628 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761323996 CA4873685 |
629 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA372191199 rs1277499447 |
629 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4873684 rs773906308 |
630 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000999066 rs1586359744 CA372191188 |
631 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA185305286 rs376352332 |
633 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs768146940 CA4873682 |
634 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4873680 rs774983563 |
639 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA372191115 rs1162416201 |
641 | I>M | No |
ClinGen gnomAD |
|
|
rs143678667 CA4873679 |
646 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1469296460 CA372191040 |
649 | I>M | No |
ClinGen gnomAD |
|
|
rs774897141 CA4873675 |
649 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372191037 rs1188960621 COSM1635638 |
650 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1208400522 CA372191026 |
651 | E>K | No |
ClinGen gnomAD |
|
|
rs1586359618 CA372190992 |
654 | T>P | No |
ClinGen Ensembl |
|
|
rs148951367 CA4873672 |
655 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148951367 CA372190979 |
655 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766466433 CA4873671 |
655 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372190970 rs1235925680 |
656 | L>V | No |
ClinGen gnomAD |
|
|
rs767327987 CA4873667 |
658 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1289602328 CA372190911 |
660 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776333653 CA4873665 |
664 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776333653 CA185305143 |
664 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416266046 CA372190853 |
665 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4873663 rs762401591 |
670 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372190793 rs1377536205 |
670 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4873662 rs759111022 |
671 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs761116230 CA4873660 |
672 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372190376 rs1217765882 |
673 | V>F | No |
ClinGen gnomAD |
|
|
rs1471095385 CA372190328 |
678 | H>R | No |
ClinGen TOPMed |
|
|
rs1403229183 CA372190330 |
678 | H>Y | No |
ClinGen TOPMed |
|
|
CA4873636 rs749402075 |
682 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372190245 rs1332254795 |
686 | G>D | No |
ClinGen gnomAD |
|
|
rs1436184260 CA372190233 |
687 | I>N | No |
ClinGen TOPMed |
|
|
CA372190220 rs1320924686 |
688 | L>S | No |
ClinGen TOPMed |
|
|
CA4873635 rs769884224 |
692 | T>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1733061 CA4873634 rs769884224 |
692 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA185304376 rs772968521 |
699 | K>R | No |
ClinGen Ensembl |
|
|
rs777613204 CA4873611 |
700 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1456376286 CA372189702 |
701 | D>A | No |
ClinGen gnomAD |
|
|
rs748085274 CA4873609 |
707 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs748085274 CA372189661 |
707 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372189639 rs1450867758 |
710 | I>T | No |
ClinGen gnomAD |
|
|
rs754481455 CA4873607 |
711 | R>K | No |
ClinGen ExAC |
|
| TCGA novel | 711 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372189613 rs1563617799 |
714 | L>F | No |
ClinGen Ensembl |
|
|
rs1354434507 CA372189593 |
717 | R>C | No |
ClinGen gnomAD |
|
|
CA185301401 rs918985491 |
717 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs918985491 CA372189592 |
717 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs112989156 CA185301371 |
718 | V>A | No |
ClinGen Ensembl |
|
|
rs145093521 CA4873604 |
718 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4873603 rs750066369 |
719 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775889583 CA372189555 |
723 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972208872 CA185301355 |
724 | R>G | No |
ClinGen Ensembl |
|
|
CA4873599 rs765707622 |
725 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA372189532 rs1360834282 |
727 | I>M | No |
ClinGen gnomAD |
|
|
rs1371936638 CA372189531 |
728 | F>L | No |
ClinGen gnomAD |
|
|
CA4873597 rs573316770 |
729 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs573316770 CA4873598 |
729 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA372189520 rs573316770 |
729 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA185301337 rs62529094 |
730 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs62529094 CA4873596 |
730 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs985821150 CA185301340 |
730 | P>T | No |
ClinGen TOPMed |
|
|
CA4873595 rs201948254 |
731 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201948254 CA4873594 |
731 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372189513 rs1191721890 |
731 | R>P | No |
ClinGen gnomAD |
|
|
rs922228029 CA185301322 |
733 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1219604958 CA372189474 |
735 | S>R | No |
ClinGen gnomAD |
|
|
CA4873574 rs761531505 |
738 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA372189449 rs1358307736 |
739 | P>A | No |
ClinGen TOPMed |
|
|
CA372189441 rs1205416632 |
740 | K>T | No |
ClinGen TOPMed |
|
|
rs1276590519 CA372189433 |
741 | L>R | No |
ClinGen TOPMed |
|
|
CA4873573 rs774262328 |
741 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372189431 rs1298565783 |
742 | K>E | No |
ClinGen gnomAD |
|
|
CA185300533 rs1046042687 |
744 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1256802890 CA372189408 |
745 | G>R | No |
ClinGen TOPMed |
|
|
CA185300528 rs868624669 |
746 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1481090628 CA372189395 |
747 | T>I | No |
ClinGen Ensembl |
|
|
CA4873570 rs760834906 |
748 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs760834906 CA185300511 |
748 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172759357 CA372189392 |
748 | M>V | No |
ClinGen gnomAD |
|
|
CA372189382 rs1422663286 |
749 | D>G | No |
ClinGen gnomAD |
|
|
CA372189383 rs1422663286 |
749 | D>V | No |
ClinGen gnomAD |
|
|
rs769456982 CA4873569 |
751 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA185300499 rs1009315882 |
752 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs551298653 CA4873566 |
753 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779374168 CA4873564 |
758 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184833599 CA4873563 |
758 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779374168 CA372189324 |
758 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754365664 CA4873562 |
759 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 759 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235604480 CA372189316 |
759 | Q>R | No |
ClinGen gnomAD |
|
|
CA372189311 rs1404993692 |
760 | D>N | No |
ClinGen TOPMed |
|
|
rs1394746535 CA372189286 |
763 | N>S | No |
ClinGen TOPMed |
|
|
rs1390296715 CA372189266 |
766 | G>S | No |
ClinGen gnomAD |
|
|
CA372189245 rs1376381388 |
769 | I>T | No |
ClinGen gnomAD |
|
|
CA372189248 rs1394896430 |
769 | I>V | No |
ClinGen gnomAD |
|
|
rs1344070489 CA372189230 |
771 | Q>* | No |
ClinGen Ensembl |
|
|
rs766834018 CA4873561 |
774 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760751846 CA4873560 |
775 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1399530728 CA372189196 |
776 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1399530728 CA372189197 |
776 | R>G | No |
ClinGen gnomAD |
|
|
CA4873558 rs146623998 |
778 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372189163 rs1299325440 |
781 | N>Y | No |
ClinGen TOPMed |
|
|
CA4873555 rs768590504 |
782 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769795849 CA4873552 |
786 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1211984807 CA372189126 |
786 | C>Y | No |
ClinGen gnomAD |
|
|
CA4873551 rs745777959 |
787 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1226460844 CA372189110 |
788 | N>S | No |
ClinGen TOPMed |
|
|
CA185300429 rs976759248 |
792 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372189082 rs976759248 |
792 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 793 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384904876 CA372189033 |
797 | W>* | No |
ClinGen gnomAD |
|
|
rs374450985 CA4873530 |
797 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA185299207 rs200039156 |
799 | S>G | No |
ClinGen 1000Genomes |
|
|
rs1306078466 CA372189013 |
800 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 800 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372188986 rs1345393592 |
803 | S>C | No |
ClinGen TOPMed |
|
|
rs1358712309 CA372188979 |
804 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 805 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372188976 rs1231901110 |
805 | H>Y | No |
ClinGen TOPMed |
|
|
rs1043927421 CA185299203 |
806 | I>F | No |
ClinGen TOPMed |
|
|
CA372188961 rs1466995839 |
807 | P>R | No |
ClinGen gnomAD |
|
|
rs1174773013 CA372188962 |
807 | P>S | No |
ClinGen gnomAD |
|
|
CA4873527 rs747787888 |
809 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 809 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372188932 rs1426867574 |
812 | T>A | No |
ClinGen gnomAD |
|
|
CA185299169 rs908296433 |
812 | T>N | No |
ClinGen Ensembl |
|
|
rs751533647 CA4873522 |
813 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751533647 CA4873523 |
813 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA185299160 rs753623525 |
816 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 816 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873521 rs764254285 |
817 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372188896 rs1234664493 |
818 | V>I | No |
ClinGen TOPMed |
|
|
CA4873520 rs758757574 |
819 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs765171905 CA4873518 COSM1488991 |
823 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759203876 CA4873517 |
823 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA185299136 rs553109938 |
825 | C>F | No |
ClinGen 1000Genomes |
|
|
rs776661814 CA4873516 |
826 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs766163992 CA4873515 |
828 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4873513 rs772770553 |
830 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372188816 rs1392468509 |
831 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 832 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754807339 CA4873499 |
837 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1310609854 CA372188751 |
839 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4873498 rs753521571 |
842 | Q>* | No |
ClinGen ExAC |
|
|
CA372188711 rs1181284373 |
842 | Q>H | No |
ClinGen gnomAD |
|
|
CA4873493 rs761269000 |
846 | W>* | No |
ClinGen ExAC |
|
|
CA4873494 rs767067115 |
846 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA372188654 rs1186079363 |
847 | Y>H | No |
ClinGen TOPMed |
|
|
rs1257388074 CA372188649 |
847 | Y>S | No |
ClinGen TOPMed |
|
|
rs376973320 CA4873492 |
848 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372188625 rs1312994922 |
849 | M>K | No |
ClinGen gnomAD |
|
|
rs1355658998 CA372188630 |
849 | M>V | No |
ClinGen gnomAD |
|
|
rs1586346497 CA372188598 |
851 | T>P | No |
ClinGen Ensembl |
|
|
CA372188581 rs1309204196 |
852 | H>R | No |
ClinGen gnomAD |
|
|
rs768132415 CA4873491 |
852 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs997694272 CA185294142 |
856 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs997694272 CA372188534 |
856 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762650661 CA4873490 |
857 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776925530 CA4873489 |
857 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1325048284 CA372188514 |
858 | S>G | No |
ClinGen gnomAD |
|
|
COSM1211856 CA4873487 rs142078144 |
859 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA372188486 rs1586346412 |
861 | F>L | No |
ClinGen Ensembl |
|
|
CA4873485 rs772310931 |
861 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4873484 rs748173293 |
865 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1445205513 CA372188429 |
865 | Q>P | No |
ClinGen gnomAD |
|
|
rs1468346055 CA372188372 |
870 | T>A | No |
ClinGen gnomAD |
|
|
CA4873483 rs779210823 |
870 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 870 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372188362 rs1400753553 |
871 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 871 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755214191 CA4873482 |
872 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs928485684 CA185294090 |
875 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA372188251 rs1354541328 |
880 | L>M | No |
ClinGen gnomAD |
|
|
RCV000762538 rs779756399 CA4873480 |
882 | F>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs750613545 CA185294059 |
883 | M>I | No |
ClinGen Ensembl |
|
|
CA185294066 rs981124665 |
883 | M>R | No |
ClinGen Ensembl |
|
|
CA4873479 rs148631103 |
885 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1586346302 CA372188147 |
888 | L>V | No |
ClinGen Ensembl |
|
|
rs1275809932 CA372188134 |
889 | Q>E | No |
ClinGen gnomAD |
|
|
CA372188122 rs1586346293 |
889 | Q>H | No |
ClinGen Ensembl |
|
|
CA372188057 rs1428087301 |
891 | F>V | No |
ClinGen gnomAD |
|
|
rs749525262 CA4873462 |
894 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA372188018 rs1272167459 |
894 | M>V | No |
ClinGen TOPMed |
|
|
CA372187945 rs1200381066 |
899 | I>T | No |
ClinGen TOPMed |
|
|
CA4873460 rs755904270 |
902 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1563614125 CA372187918 |
902 | D>H | No |
ClinGen Ensembl |
|
|
CA372187892 rs1328771891 |
904 | T>A | No |
ClinGen gnomAD |
|
|
rs780949103 CA4873458 |
904 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780949103 CA4873459 |
904 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372187879 rs1478270508 |
905 | V>D | No |
ClinGen gnomAD |
|
|
rs757250722 CA4873457 |
906 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185293647 rs200981536 |
907 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 909 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258097462 CA372187824 |
909 | L>F | No |
ClinGen TOPMed |
|
|
rs1210032060 CA372187788 |
912 | L>F | No |
ClinGen gnomAD |
|
|
CA372187774 rs1460211371 |
912 | L>R | No |
ClinGen gnomAD |
|
|
CA372187753 rs1219703480 |
913 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs372250277 CA4873455 |
913 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372187761 rs372250277 |
913 | M>T | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757875835 CA4873454 |
915 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs145196129 CA185293614 |
917 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4873451 rs764878417 |
918 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761135559 CA4873450 |
922 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs376039759 CA185293400 |
924 | A>V | No |
ClinGen Ensembl |
|
|
rs752193749 CA4873435 |
925 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764828347 CA4873434 |
926 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 927 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873433 rs754745588 |
929 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 932 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372187294 rs1296605223 |
932 | S>T | No |
ClinGen gnomAD |
|
|
rs1459133980 CA372187264 |
933 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4873432 rs541330058 COSM2151427 |
933 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1434612163 CA372187249 |
934 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA185293352 rs200770153 |
934 | I>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 935 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372187180 rs1311803277 |
937 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 938 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768045459 CA4873431 |
939 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4873429 rs952413031 |
940 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1162973577 CA372187077 |
942 | T>A | No |
ClinGen gnomAD |
|
|
CA372187049 rs1382647480 |
943 | A>V | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1418805891 CA372187026 |
944 | Y>C | No |
ClinGen gnomAD |
|
|
rs777035089 CA185293284 |
945 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4873423 rs534139966 |
946 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA185293267 rs1024430224 |
947 | A>P | No |
ClinGen TOPMed |
|
|
rs759801315 CA4873421 |
948 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010483156 CA185293248 |
949 | M>L | No |
ClinGen TOPMed |
|
|
rs1182525812 CA372186914 |
949 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1322608173 CA372185739 |
954 | M>L | No |
ClinGen TOPMed |
|
|
rs773126796 CA4873399 |
956 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 960 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381772866 CA372185596 |
961 | I>V | No |
ClinGen gnomAD |
|
|
CA372185569 rs1586341537 |
962 | A>V | No |
ClinGen Ensembl |
|
|
rs771735577 CA372185562 |
963 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771735577 CA4873398 |
963 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 964 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204412963 CA372185513 |
965 | L>* | No |
ClinGen TOPMed |
|
|
rs1466814960 CA372185494 |
966 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4873396 rs778948449 |
967 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 968 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372185407 rs755858522 |
970 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873391 rs755858522 |
970 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873392 rs779693936 |
970 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 972 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750010364 CA4873390 |
975 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372185252 rs1202111532 |
979 | A>D | No |
ClinGen gnomAD |
|
|
rs368458656 CA4873388 |
979 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4873387 rs753232489 |
980 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 983 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873385 rs759625490 |
984 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753976948 CA4873384 |
985 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1190738964 CA372185026 |
988 | L>P | No |
ClinGen gnomAD |
|
|
CA372185020 rs1335291455 |
989 | A>T | No |
ClinGen TOPMed |
|
|
rs774332269 CA4873356 |
993 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372184937 rs763980360 |
994 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4873355 rs763980360 |
994 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA372184940 rs1441259402 |
994 | H>Y | No |
ClinGen gnomAD |
|
|
rs1180900008 CA372184919 |
995 | Y>S | No |
ClinGen gnomAD |
|
|
CA185289345 rs983999629 |
996 | Q>R | No |
ClinGen Ensembl |
|
|
rs769353866 CA4873352 |
997 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775235313 CA4873353 |
997 | D>Y | No |
ClinGen ExAC |
|
|
rs1223248967 CA372184870 |
998 | P>L | No |
ClinGen gnomAD |
|
|
rs1358854783 CA372184859 |
999 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4873350 rs200191392 |
1000 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4873349 rs770619335 |
1001 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4873348 rs746633398 |
1002 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1006 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554591053 CA4873345 |
1009 | L>R | No |
ClinGen Ensembl |
|
|
CA372184758 rs1586340296 |
1009 | L>V | No |
ClinGen Ensembl |
|
|
rs749808080 CA372184751 RCV000501687 |
1010 | L>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs749808080 CA4873343 |
1010 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750418643 CA4873340 |
1013 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1586340250 CA372184710 |
1014 | T>P | No |
ClinGen Ensembl |
|
|
rs767608029 CA372184678 |
1016 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150819213 CA4873337 |
1022 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372184568 rs1248628341 |
1023 | H>Q | No |
ClinGen gnomAD |
|
|
rs763996850 CA4873336 |
1025 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1460982946 CA372184512 |
1027 | N>H | No |
ClinGen TOPMed |
|
|
CA4873335 rs762772290 |
1027 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1029 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185288326 rs141425681 |
1031 | I>M | No |
ClinGen ESP |
|
|
CA4873313 rs753799341 COSM604196 |
1031 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1428534644 CA372183556 |
1034 | K>E | No |
ClinGen gnomAD |
|
|
rs758843087 CA4873309 |
1035 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758843087 CA4873310 |
1035 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053397256 CA185288243 |
1038 | Y>C | No |
ClinGen TOPMed |
|
|
rs1053397256 CA185288246 |
1038 | Y>F | No |
ClinGen TOPMed |
|
|
CA372183526 rs1172814327 |
1039 | F>L | No |
ClinGen gnomAD |
|
|
rs866560604 CA185288228 |
1040 | P>L | No |
ClinGen Ensembl |
|
|
CA372183519 rs775752911 |
1040 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1815741317 RCV001196556 |
1041 | I>T | No |
ClinVar dbSNP |
|
|
CA372183514 rs1184928685 |
1041 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1244343404 CA372183498 |
1043 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs934414576 CA372183487 |
1044 | F>L | No |
ClinGen gnomAD |
|
|
rs1172804734 CA372183476 |
1046 | F>C | No |
ClinGen TOPMed |
|
|
CA185288204 rs750842571 |
1048 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4873304 rs375664674 |
1049 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375664674 CA4873303 |
1049 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307771879 CA372183455 |
1050 | Q>* | No |
ClinGen gnomAD |
|
|
CA185288184 rs537707907 |
1051 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs199829614 CA185288178 |
1054 | L>V | No |
ClinGen Ensembl |
|
|
rs1212332430 CA372183422 |
1055 | Q>* | No |
ClinGen gnomAD |
|
|
CA372183418 rs777978845 |
1055 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1056 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372183379 rs1312246002 |
1061 | G>R | No |
ClinGen TOPMed |
|
|
rs772177975 CA4873284 |
1065 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4873282 rs149383757 |
1067 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372182194 rs1163071228 |
1069 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4873278 rs779799736 |
1070 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1073 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185284611 CA4873275 rs766017803 |
1073 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4873274 rs767030687 |
1074 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1074 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1075 | P>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873273 rs756723278 |
1075 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185284604 rs1009668212 |
1077 | V>L | No |
ClinGen TOPMed |
|
|
CA4873271 rs763756132 |
1078 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA185284593 rs1003517498 |
1080 | L>P | No |
ClinGen Ensembl |
|
|
CA372181613 rs1344765656 |
1087 | F>L | No |
ClinGen TOPMed |
|
|
CA4873267 rs368308415 |
1090 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4873264 rs762522662 |
1090 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873266 rs368308415 |
1090 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1091 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372181484 rs1346460230 |
1092 | T>S | No |
ClinGen gnomAD |
|
|
CA4873262 rs768967879 |
1093 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372181340 rs1289972754 |
1097 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1102 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873259 rs781148758 |
1103 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756741731 CA4873258 |
1105 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4873257 rs751130899 |
1106 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138407503 CA4873255 |
1107 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372181053 rs1357486443 |
1108 | E>Q | No |
ClinGen TOPMed |
|
|
rs766863272 CA4873254 |
1110 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750997212 CA4873252 |
1112 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA372180850 rs1324512839 |
1112 | S>I | No |
ClinGen gnomAD |
|
|
rs913435053 CA185281286 |
1112 | S>R | No |
ClinGen Ensembl |
|
|
rs993307719 CA185281279 |
1115 | I>M | No |
ClinGen Ensembl |
|
|
rs1412399176 CA372179074 |
1115 | I>V | No |
ClinGen gnomAD |
|
|
CA4873230 rs762446460 |
1117 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372179008 rs1398236002 |
1117 | E>V | No |
ClinGen gnomAD |
|
|
rs145836375 CA372178942 |
1121 | D>E | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 1122 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4873228 rs764169665 |
1123 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs762983921 CA4873227 |
1125 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA372178899 rs1439208763 |
1125 | A>P | No |
ClinGen TOPMed |
|
|
rs775716755 CA4873226 |
1126 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242293748 CA372178862 |
1128 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1456584311 CA372178811 |
1132 | Y>C | No |
ClinGen TOPMed |
|
|
rs149002566 CA4873224 |
1134 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4873225 rs566930626 |
1134 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA372178768 rs1329959333 |
1135 | Y>F | No |
ClinGen TOPMed |
|
|
CA4873223 rs776557664 |
1136 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372178697 rs1340138948 |
1139 | P>R | No |
ClinGen gnomAD |
|
|
rs190787328 CA185281232 |
1139 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1294519493 CA372178676 |
1141 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372178672 rs1247337386 |
1141 | R>K | No |
ClinGen gnomAD |
|
|
CA372178073 rs1321508958 |
1144 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372178048 rs1402167094 |
1145 | A>G | No |
ClinGen gnomAD |
|
|
rs1402167094 CA372178046 |
1145 | A>V | No |
ClinGen gnomAD |
|
|
rs1368640374 CA372178043 |
1146 | H>N | No |
ClinGen TOPMed |
|
|
CA372178032 rs1385388407 |
1146 | H>R | No |
ClinGen gnomAD |
|
|
rs758883409 CA372178016 |
1147 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873206 rs758883409 |
1147 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4873205 rs752817483 |
1150 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA372177959 rs1200177583 |
1153 | D>Y | No |
ClinGen gnomAD |
|
|
rs759863027 CA372177943 |
1154 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765297353 CA4873204 |
1154 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1218575099 CA372177930 |
1155 | F>S | No |
ClinGen gnomAD |
|
|
CA185278062 rs772334826 |
1156 | R>G | No |
ClinGen Ensembl |
|
|
rs1283967831 CA372177910 |
1156 | R>S | No |
ClinGen gnomAD |
|
|
rs776659440 CA4873202 |
1156 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766201677 CA4873201 |
1157 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4873198 rs769870389 |
1159 | L>T | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q12768
[MIM: 603563]: Spastic paraplegia 8, autosomal dominant (SPG8)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:17160902, ECO:0000269|PubMed:20833645, ECO:0000269|PubMed:23085491, ECO:0000269|PubMed:23455931, ECO:0000269|PubMed:23881105, ECO:0000269|PubMed:25454649}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 220210]: Ritscher-Schinzel syndrome 1 (RTSC1)
A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay. {ECO:0000269|PubMed:24065355}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:17160902, ECO:0000269|PubMed:20833645, ECO:0000269|PubMed:23085491, ECO:0000269|PubMed:23455931, ECO:0000269|PubMed:23881105, ECO:0000269|PubMed:25454649}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay. {ECO:0000269|PubMed:24065355}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q12768
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q12768 | |||
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| WASH complex | A protein complex that localizes at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization. In human, the WASH complex is composed of F-actin-capping protein subunits alpha and beta, WASH1, FAM21, KIAA1033, KIAA0196 and CCDC53. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| endosomal transport | The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane. |
| endosome fission | The process by which early and late endosomes undergo budding and fission reactions that separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane. |
| endosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes. |
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
| meiotic spindle assembly | The aggregation, arrangement and bonding together of a set of components to form the spindle that contributes to the process of meiosis. |
| oocyte maturation | A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization. |
| polar body extrusion after meiotic divisions | The cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum. One polar body is formed in the first division of meiosis and the other in the second division; at each division, the cytoplasm divides unequally, so that the polar body is of much smaller size than the developing oocyte. At the second division in which a polar body is formed, the polar body and the developing oocyte each contain a haploid set of chromosomes. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein-containing complex localization | A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. |
| regulation of actin nucleation | Any process that modulates the frequency, rate or extent of actin nucleation, the initial step in the formation of an actin filament in which actin monomers combine to form a new filament. |
| regulation of Arp2/3 complex-mediated actin nucleation | Any process that modulates the frequency, rate or extent of actin nucleation mediated by the Arp2/3 complex and interacting proteins. |
| regulation of vesicle size | Any process that modulates the size of a vesicle. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7ZVM1 | washc5 | WASH complex subunit 5 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLDFLAENNL | CGQAILRIVS | CGNAIIAELL | RLSEFIPAVF | RLKDRADQQK | YGDIIFDFSY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FKGPELWESK | LDAKPELQDL | DEEFRENNIE | IVTRFYLAFQ | SVHKYIVDLN | RYLDDLNEGV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YIQQTLETVL | LNEDGKQLLC | EALYLYGVML | LVIDQKIEGE | VRERMLVSYY | RYSAARSSAD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SNMDDICKLL | RSTGYSSQPG | AKRPSNYPES | YFQRVPINES | FISMVIGRLR | SDDIYNQVSA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YPLPEHRSTA | LANQAAMLYV | ILYFEPSILH | THQAKMREIV | DKYFPDNWVI | SIYMGITVNL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VDAWEPYKAA | KTALNNTLDL | SNVREQASRY | ATVSERVHAQ | VQQFLKEGYL | REEMVLDNIP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KLLNCLRDCN | VAIRWLMLHT | ADSACDPNNK | RLRQIKDQIL | TDSRYNPRIL | FQLLLDTAQF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EFILKEMFKQ | MLSEKQTKWE | HYKKEGSERM | TELADVFSGV | KPLTRVEKNE | NLQAWFREIS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KQILSLNYDD | STAAGRKTVQ | LIQALEEVQE | FHQLESNLQV | CQFLADTRKF | LHQMIRTINI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KEEVLITMQI | VGDLSFAWQL | IDSFTSIMQE | SIRVNPSMVT | KLRATFLKLA | SALDLPLLRI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NQANSPDLLS | VSQYYSGELV | SYVRKVLQII | PESMFTSLLK | IIKLQTHDII | EVPTRLDKDK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LRDYAQLGPR | YEVAKLTHAI | SIFTEGILMM | KTTLVGIIKV | DPKQLLEDGI | RKELVKRVAF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ALHRGLIFNP | RAKPSELMPK | LKELGATMDG | FHRSFEYIQD | YVNIYGLKIW | QEEVSRIINY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NVEQECNNFL | RTKIQDWQSM | YQSTHIPIPK | FTPVDESVTF | IGRLCREILR | ITDPKMTCHI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DQLNTWYDMK | THQEVTSSRL | FSEIQTTLGT | FGLNGLDRLL | CFMIVKELQN | FLSMFQKIIL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RDRTVQDTLK | TLMNAVSPLK | SIVANSNKIY | FSAIAKTQKI | WTAYLEAIMK | VGQMQILRQQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IANELNYSCR | FDSKHLAAAL | ENLNKALLAD | IEAHYQDPSL | PYPKEDNTLL | YEITAYLEAA |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GIHNPLNKIY | ITTKRLPYFP | IVNFLFLIAQ | LPKLQYNKNL | GMVCRKPTDP | VDWPPLVLGL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LTLLKQFHSR | YTEQFLALIG | QFICSTVEQC | TSQKIPEIPA | DVVGALLFLE | DYVRYTKLPR |
| 1150 | |||||
| RVAEAHVPNF | IFDEFRTVL |