Q96IV0
PR
Gene name |
NGLY1 (PNG1) |
Protein name |
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase |
Names |
PNGase, hPNGase, N-glycanase 1, Peptide:N-glycanase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55768 |
EC number |
3.5.1.52: In linear amides |
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
3 structures for Q96IV0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2CCQ | X-ray | 160 A | A | 11-109 | PDB |
| 2CM0 | X-ray | 190 A | A | 11-109 | PDB |
| AF-Q96IV0-F1 | Predicted | AlphaFoldDB |
640 variants for Q96IV0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003106103 RCV001052112 rs1708515209 |
1 | M>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212630 CA351911414 RCV001574948 rs779267801 |
5 | A>E | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753912717 RCV001574620 RCV000806302 |
5 | A>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048391 rs1708511856 |
9 | S>C | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002552587 RCV001045779 CA2289608 rs748917973 |
9 | S>T | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000624164 rs1553666033 |
14 | S>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289604 rs767547861 RCV001320231 |
14 | S>F | Variant assessed as Somatic; 0.0 impact. Congenital disorder of deglycosylation [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2289603 rs754904758 RCV000812090 RCV001536615 |
15 | P>R | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776883349 RCV000692598 CA2289599 |
18 | A>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1708506506 RCV001232056 |
30 | E>K | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289592 RCV001345852 rs771300867 |
31 | A>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769627540 CA2289589 RCV001245607 |
35 | L>Q | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1708504699 RCV001324657 |
40 | D>E | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239216 rs1708261567 |
51 | Y>H | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221559 rs964624944 CA71682193 |
55 | R>Q | Variant assessed as Somatic; 0.0 impact. Congenital disorder of deglycosylation [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1405545152 CA351911047 RCV001055732 |
61 | F>C | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2289549 RCV001219443 rs145752045 |
67 | P>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1708258319 RCV001040120 |
73 | E>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000651487 rs777476251 CA2289521 |
96 | E>K | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2289518 RCV001351114 rs780364011 |
97 | Q>H | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM184002 rs375732599 CA2289517 COSM3592120 RCV001309845 |
102 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Congenital disorder of deglycosylation [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001056844 rs750589736 |
102 | R>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289514 RCV002260676 rs757774666 RCV001040035 |
107 | I>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2289515 rs757774666 RCV000694915 |
107 | I>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs907852687 CA71669775 RCV000496176 CA10590119 |
116 | S>* | Congenital disorder of deglycosylation Congenital disorder of deglycosylation (cddg) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752256415 RCV002486393 CA2289509 RCV001343486 |
118 | K>N | Variant assessed as Somatic; 0.0 impact. Congenital disorder of deglycosylation 1 Congenital disorder of deglycosylation [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1707449367 RCV001069598 |
121 | K>R | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238684 rs1707449249 |
122 | V>I | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1486033521 RCV001322371 |
124 | S>A | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701042 rs200042243 CA2289505 |
130 | A>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2289501 RCV001236078 rs748043134 |
135 | P>A | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1559551887 RCV000698256 CA351908874 |
136 | T>A | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372479316 RCV001208098 |
137 | T>P | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338910 rs754379411 |
140 | S>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351908741 RCV000547394 rs1553660431 |
144 | G>E | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559551749 CA351908644 RCV000701487 |
150 | R>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA71669617 RCV000798207 rs969104465 |
151 | N>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs762498007 CA2289485 RCV000793740 |
152 | R>H | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1270766241 RCV001069931 CA351908490 |
159 | P>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001222860 CA2289479 rs746042656 |
162 | A>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000824105 rs749441809 COSM2948867 CA2289476 COSM3696012 |
164 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine Congenital disorder of deglycosylation [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001342984 rs1706734836 |
165 | V>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342798 CA351906427 rs1261759648 |
170 | A>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001349695 rs1306695269 |
174 | V>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299031 rs958601385 |
180 | Q>R | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289449 RCV001034871 rs781700117 |
183 | L>P | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001591282 RCV000536135 rs139636452 CA2289447 |
184 | V>F | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2289448 RCV001047139 rs139636452 |
184 | V>I | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1185701065 RCV001294881 CA351906152 |
185 | Y>C | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2289445 rs757980826 RCV001305044 |
194 | A>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2289444 rs750077439 RCV001211527 |
194 | A>V | Variant assessed as Somatic; 0.0 impact. Congenital disorder of deglycosylation [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001338947 rs1706727828 |
196 | A>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002525747 RCV001572534 CA2289439 RCV000477796 rs760530009 |
199 | P>L | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000496134 RCV001007960 CA2289434 rs200561967 |
208 | Q>* | Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1706725084 RCV001350714 |
209 | E>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351905822 rs1553657104 RCV000542033 |
210 | K>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001301303 rs1706724401 |
211 | L>F | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs551759932 RCV000873075 RCV002235921 CA2289427 |
215 | R>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000525147 rs148972130 CA2289426 |
216 | K>E | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA2289404 RCV003163167 rs748862974 RCV000693243 |
220 | G>D | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201904265 RCV000921878 CA2289401 RCV001558378 |
223 | I>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA351904374 rs1575622282 RCV001027427 |
236 | W>C | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2289395 rs754083716 RCV000542289 RCV001556237 RCV002530238 |
239 | E>D | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001046154 rs1706033199 |
243 | H>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554902 rs1553654596 CA351904136 |
243 | H>P | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001316880 CA2289394 rs371573253 |
243 | H>Q | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000496137 rs1135401729 CA351904110 |
244 | W>R | Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002539554 rs760786749 RCV001304513 CA2289393 |
246 | N>Y | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771354261 CA2289388 RCV001003583 |
253 | C>F | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA351903784 rs748897361 RCV001057609 |
254 | G>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001332246 rs1706027679 |
259 | S>C | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289378 RCV000798845 RCV001557241 rs147901411 RCV002538007 |
267 | S>I | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA351902746 rs1553654532 RCV000531063 |
272 | K>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001550534 RCV000651492 rs202027326 CA2289376 |
273 | W>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs752711308 CA2289375 RCV001324593 |
275 | A>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA71656793 RCV001214712 rs948858807 |
277 | E>Q | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2289371 RCV002249422 RCV000705657 rs200446388 |
281 | H>Y | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270699 rs1706021603 |
283 | C>W | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043678 rs1354557048 |
285 | A>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1375323331 RCV000651484 |
286 | C>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000876946 CA249293 rs370175393 RCV000203090 RCV002515506 RCV001576791 |
290 | N>S | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2289368 COSM1043393 RCV001008027 rs772994617 RCV000543687 |
291 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [NCI-TCGA, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000532397 rs769627493 CA2289367 |
291 | R>Q | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297805 rs1706019869 |
294 | R>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289347 RCV002543613 rs763397227 RCV001312939 RCV002504477 |
297 | N>Y | Congenital disorder of deglycosylation 1 Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000651494 RCV002531977 rs201068823 CA2289345 |
299 | E>D | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001242866 rs746594019 CA2289341 |
308 | R>Q | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1422220 RCV002273988 rs201791209 RCV000496158 CA2289336 RCV001731437 |
311 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [NCI-TCGA, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002282510 RCV001295787 rs1332390500 CA351901965 |
320 | C>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2289333 rs755009745 RCV001213883 RCV001008700 |
321 | R>* | Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000793967 CA351901928 rs1279950302 |
323 | V>I | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001341093 RCV000483669 RCV002470875 rs761634625 |
326 | E>D | Congenital disorder of deglycosylation 1 Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765674070 CA2289328 RCV001224579 |
327 | A>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001264673 COSM276335 RCV002471069 rs762276611 CA351901852 |
328 | R>C | Congenital disorder of deglycosylation 1 large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002468613 rs757712371 CA2289289 RCV000995587 RCV003148909 |
342 | Y>C | Congenital disorder of deglycosylation 1 Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1705807075 RCV001321285 |
344 | P>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1705806467 RCV001202415 |
345 | S>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559535370 CA351900965 RCV001245225 |
348 | R>Q | Variant assessed as Somatic; 0.0 impact. Congenital disorder of deglycosylation [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001238934 CA2289285 rs752318754 |
348 | R>W | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001270700 rs1705803915 |
356 | E>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313853 rs1705801576 |
362 | P>A | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203535 CA351900755 rs765144358 |
374 | S>P | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1135401728 CA351900193 RCV000496206 |
390 | R>P | Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA351900194 RCV001027428 rs1135401728 |
390 | R>Q | Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1705687090 RCV001202219 |
391 | Y>H | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289232 RCV000700458 rs766571083 |
392 | S>A | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1705686797 RCV001302297 |
392 | S>F | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA143904 RCV002477142 rs201337954 RCV000309063 RCV000043663 |
401 | R>* | Congenital disorder of deglycosylation 1 Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587777266 RCV000114363 |
402 | R>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1056459017 RCV000802179 RCV001570954 CA71653876 |
410 | L>F | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001008026 rs146140738 RCV002537141 COSM173458 RCV000802056 COSM3427494 CA2289224 |
411 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine Congenital disorder of deglycosylation Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1422218 rs142766875 RCV001038257 RCV002462267 CA2289223 |
411 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Congenital disorder of deglycosylation [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778513258 RCV001508141 CA2289222 RCV000693613 |
412 | D>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001061216 rs1261124515 CA351899878 |
413 | T>I | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000802732 rs371004438 CA2289221 |
414 | I>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001266294 rs1575616394 RCV001860596 RCV001008834 |
415 | N>missing | Congenital disorder of deglycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289219 RCV000707318 rs777927774 |
417 | L>F | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001226863 rs1705681776 |
417 | L>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA71653826 rs142173456 RCV001262564 |
420 | Q>H | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA351899346 rs1575614945 RCV000995586 |
422 | Q>* | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs369598638 CA2289198 RCV000692485 RCV002532215 |
423 | L>Q | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001057155 CA2289193 RCV001548691 rs201442228 |
430 | R>K | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000991415 CA71653113 rs992161646 |
432 | E>* | Variant assessed as Somatic; impact. Congenital disorder of deglycosylation [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000538049 RCV001565771 rs761035118 CA2289190 |
434 | L>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2289189 RCV001315178 rs372323207 |
435 | Q>R | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM2948852 rs144144643 CA2289186 RCV002531976 RCV001575728 RCV000651486 COSM3696011 |
445 | I>L | large_intestine Congenital disorder of deglycosylation Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1705583019 RCV001304585 |
449 | T>Y | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs187892679 CA2289181 RCV000814980 |
452 | P>R | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000651485 CA351898939 rs772810347 |
452 | P>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2289180 rs375966958 RCV001045465 |
455 | L>F | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2289177 RCV001050526 rs746748010 |
456 | G>R | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001008537 rs587777265 RCV000114362 |
458 | R>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768131676 CA2289170 RCV000578540 RCV000622683 RCV000651488 |
469 | R>* | Congenital disorder of deglycosylation (cddg) Inborn genetic diseases Congenital disorder of deglycosylation [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA351898617 rs1553652803 RCV000651491 |
472 | M>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000946099 CA2289149 rs564037973 RCV001551494 |
479 | T>I | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV001214585 rs763452939 |
483 | P>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2289147 rs766828621 RCV000812242 |
483 | P>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000946098 rs544148699 RCV001561360 CA2289145 |
484 | C>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001215529 rs761374303 CA351897071 |
488 | K>R | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000525699 RCV003133352 CA2289141 rs144262689 |
490 | S>F | Congenital disorder of deglycosylation 1 Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001008628 RCV000824894 rs1575612023 |
494 | H>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351896757 rs745718089 RCV001239410 |
503 | R>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001584503 CA2289136 RCV000651489 rs139134926 |
503 | R>H | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146208989 RCV000686739 CA2289133 |
506 | R>Q | Variant assessed as Somatic; 0.0 impact. Congenital disorder of deglycosylation [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001334012 rs1337509224 CA351896657 |
509 | N>D | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000662298 RCV002468595 RCV000699456 rs765211108 RCV000728678 |
511 | N>missing | Intellectual disability Congenital disorder of deglycosylation 1 Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059420 CA351896559 rs1449409944 |
513 | T>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000599192 RCV002532690 rs1553652151 |
524 | M>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs112237307 RCV001591280 RCV000527020 CA2289122 |
527 | I>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16044058 RCV001007961 RCV000496208 rs767388144 |
535 | W>* | Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2289118 rs138108375 RCV001591281 RCV000539635 |
536 | H>Q | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752138969 RCV001215307 CA2289103 |
541 | A>V | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA151138 RCV000578992 COSM1043385 RCV000114364 rs528583612 |
542 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium Congenital disorder of deglycosylation (cddg) Congenital disorder of deglycosylation [NCI-TCGA, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA71657412 RCV000651490 rs1040190748 RCV000734278 |
546 | S>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002538161 rs373792768 CA2289099 RCV000813427 |
550 | Y>C | Inborn genetic diseases Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001221167 rs1354238828 CA351894236 |
559 | S>L | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1704908411 RCV001045906 |
563 | K>E | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150599828 RCV001226515 CA2289095 |
566 | S>N | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001215183 rs1704906682 |
570 | R>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795859 rs780662676 CA351894018 |
578 | T>A | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001214679 rs376913179 CA2289079 |
586 | R>Q | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765145201 CA2289078 RCV000651493 |
591 | Q>E | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs760957238 RCV001344656 CA2289077 |
594 | L>P | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001214731 rs1353013215 |
597 | D>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218295 rs903771343 CA71656982 |
599 | S>N | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA351893647 rs899798907 RCV000695859 |
602 | S>C | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000544513 rs777069327 CA2289045 |
603 | Y>C | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1470912253 RCV001860591 RCV001008539 |
607 | S>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046465 rs1704873404 |
611 | E>D | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270701 rs1704873196 |
613 | I>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309866 rs746694378 CA2289043 |
620 | R>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806030 RCV001805877 rs771630737 |
623 | G>missing | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000545860 CA71656909 rs891240035 |
630 | T>N | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587776982 RCV000043662 RCV003147331 RCV000255027 |
631 | Q>missing | Congenital disorder of deglycosylation 1 Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148625951 RCV001303300 CA2289033 |
634 | R>T | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001008032 RCV000496180 rs1135401730 |
636 | S>* | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351893206 RCV001755895 RCV000534577 rs1553649841 |
638 | N>S | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001568550 CA2289030 rs529998714 RCV000547190 |
640 | H>Y | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA351893112 rs1205548216 RCV001233501 |
652 | S>G | Congenital disorder of deglycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs746390289 CA2289615 |
3 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169138947 CA351911420 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351911413 rs779267801 |
5 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289613 rs779267801 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351911411 rs1481308931 |
6 | L>V | No |
ClinGen gnomAD |
|
|
rs1197279636 CA351911404 |
7 | G>R | No |
ClinGen TOPMed |
|
|
CA351911397 rs1198660180 |
8 | S>C | No |
ClinGen gnomAD |
|
|
CA351911398 rs1198660180 |
8 | S>G | No |
ClinGen gnomAD |
|
|
rs1489838972 CA351911394 |
8 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 10 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338750779 CA351911385 |
10 | S>P | No |
ClinGen gnomAD |
|
|
CA351911377 rs1225525624 |
11 | G>D | No |
ClinGen gnomAD |
|
|
CA351911371 rs755653950 |
12 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755653950 CA2289606 |
12 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752321437 CA2289605 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351911361 rs767547861 |
14 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71685904 rs754904758 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171558522 CA351911354 |
16 | A>T | No |
ClinGen TOPMed |
|
|
CA2289601 rs766151819 |
17 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs762706285 CA2289600 |
18 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351911339 rs1175429545 |
19 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760735330 CA2289597 |
20 | L>F | No |
ClinGen ExAC |
|
|
CA351911321 rs1182383020 |
21 | C>* | No |
ClinGen gnomAD |
|
|
rs1164952821 CA351911317 |
22 | Q>* | No |
ClinGen TOPMed |
|
|
CA351911313 rs1391309787 |
22 | Q>H | No |
ClinGen TOPMed |
|
|
rs547866120 CA2289595 |
22 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746330955 CA2289594 |
24 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1262972492 CA351911295 |
25 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351911297 rs1262972492 |
25 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs985686751 CA71685858 |
25 | P>S | No |
ClinGen gnomAD |
|
|
CA351911292 rs1222079247 |
26 | E>* | No |
ClinGen gnomAD |
|
|
rs774740384 CA351911271 |
29 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1280671094 CA351911268 |
29 | L>W | No |
ClinGen gnomAD |
|
|
CA2289591 rs749651719 |
31 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328687103 CA351911252 |
32 | S>P | No |
ClinGen gnomAD |
|
|
CA351911242 rs1406381776 |
33 | K>M | No |
ClinGen gnomAD |
|
|
rs1400197819 CA351911210 |
39 | A>T | No |
ClinGen TOPMed |
|
|
rs1277077187 CA351911200 |
40 | D>G | No |
ClinGen TOPMed |
|
|
CA351911184 rs1469535992 |
42 | I>T | No |
ClinGen gnomAD |
|
|
CA71682266 rs920456609 |
46 | P>L | No |
ClinGen Ensembl |
|
|
rs1365110057 CA351911146 |
46 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757062869 CA2289561 |
48 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1420502052 CA351911123 |
49 | E>D | No |
ClinGen gnomAD |
|
|
CA2289560 rs752889270 |
49 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1167520078 CA351911117 |
50 | K>R | No |
ClinGen gnomAD |
|
|
CA351911109 rs1477057400 |
51 | Y>C | No |
ClinGen gnomAD |
|
|
rs1490327448 CA351911088 |
54 | I>T | No |
ClinGen gnomAD |
|
|
rs751646811 CA2289557 |
55 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766491799 CA2289556 |
56 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763301398 CA2289555 |
57 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs372486759 CA2289554 |
58 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315879556 CA351911063 |
59 | T>A | No |
ClinGen gnomAD |
|
|
CA351911059 rs1220042727 |
59 | T>I | No |
ClinGen TOPMed |
|
|
CA351911051 rs1284955783 |
61 | F>L | No |
ClinGen gnomAD |
|
|
CA2289553 rs770261107 |
63 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1355136163 CA351911011 |
67 | P>S | No |
ClinGen gnomAD |
|
|
rs1355136163 CA351911013 |
67 | P>T | No |
ClinGen gnomAD |
|
|
rs1464233609 CA351910992 |
70 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1202305571 CA351910988 |
71 | A>T | No |
ClinGen TOPMed |
|
|
rs375967353 CA2289548 |
74 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177582595 CA351910946 |
77 | E>Q | No |
ClinGen gnomAD |
|
|
CA351910908 rs771648190 |
82 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2289547 rs771648190 |
82 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351909830 rs1437209301 |
84 | E>* | No |
ClinGen gnomAD |
|
|
CA71669834 rs112399141 |
85 | T>I | No |
ClinGen Ensembl |
|
|
CA2289525 rs765056703 |
87 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2289524 rs774265548 |
88 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA351909770 rs1426712233 |
89 | F>C | No |
ClinGen TOPMed |
|
|
CA2289522 rs749236268 |
91 | K>I | No |
ClinGen ExAC gnomAD |
|
| rs1217945461 | 93 | A>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 94 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2289519 rs747149239 |
97 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs747149239 CA2289520 |
97 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2289516 rs750589736 |
102 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000454236 CA16609506 rs1060499777 |
105 | I>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351909583 rs1157343372 |
109 | R>G | No |
ClinGen gnomAD |
|
|
CA71669784 rs112195074 |
110 | S>G | No |
ClinGen Ensembl |
|
|
rs1441799025 CA351909245 |
113 | L>P | No |
ClinGen TOPMed |
|
|
CA2289511 rs571852877 |
115 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351909166 rs1183861340 |
117 | N>D | No |
ClinGen gnomAD |
|
|
rs546383653 CA2289507 |
123 | K>E | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 123 | K>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486033521 CA351909055 |
124 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA71669752 rs921415058 |
125 | S>F | No |
ClinGen Ensembl |
|
|
rs200974129 CA2289506 |
128 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200974129 CA71669746 |
128 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1361743299 CA351908984 |
129 | A>T | No |
ClinGen gnomAD |
|
|
rs200042243 CA351908971 |
130 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1202065665 CA351908926 |
132 | T>I | No |
ClinGen TOPMed |
|
|
CA351908931 rs1306674601 |
132 | T>S | No |
ClinGen TOPMed |
|
|
rs1575650142 CA351908923 |
133 | Q>* | No |
ClinGen Ensembl |
|
|
rs1488563827 CA351908894 |
134 | L>P | No |
ClinGen TOPMed |
|
|
rs983411072 CA71669729 |
135 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs372479316 CA2289500 |
137 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351908830 rs746095871 |
138 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289498 rs746095871 |
138 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924848675 CA71669709 |
138 | P>S | No |
ClinGen gnomAD |
|
|
rs1456914207 CA351908825 |
139 | S>P | No |
ClinGen gnomAD |
|
|
COSM1309013 CA2289495 rs754379411 |
140 | S>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs757439135 CA2289496 |
140 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs370585628 CA351908772 |
142 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370585628 CA2289493 |
142 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764719624 CA2289494 |
142 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351908765 rs1559551824 |
143 | S>C | No |
ClinGen Ensembl |
|
|
rs753160552 CA2289492 |
144 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323235595 CA351908694 |
147 | Q>E | No |
ClinGen gnomAD |
|
|
rs945012536 CA71669627 |
147 | Q>R | No |
ClinGen TOPMed |
|
|
rs1559551762 CA351908661 |
148 | H>Q | No |
ClinGen Ensembl |
|
|
CA2289486 rs765826900 |
149 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751242474 CA2289487 |
149 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA71669603 rs1023362606 |
152 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351908610 rs1023362606 |
152 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375945206 CA2289483 |
154 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773019915 CA2289484 |
154 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385762448 CA351908562 |
155 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351908560 rs1385762448 |
155 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs144596564 CA71669573 |
156 | S>L | No |
ClinGen ESP gnomAD |
|
|
rs1299577184 CA351908550 |
156 | S>T | No |
ClinGen gnomAD |
|
|
CA351908498 rs1168290356 |
159 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA71669567 rs552950520 |
160 | P>L | No |
ClinGen Ensembl |
|
|
CA351908462 rs1481258137 |
161 | S>F | No |
ClinGen gnomAD |
|
|
CA351908452 rs746042656 |
162 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289480 rs768605009 |
162 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779330674 CA2289478 |
164 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2289477 rs749441809 |
164 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306695269 CA351906321 |
174 | V>A | No |
ClinGen gnomAD |
|
|
CA351906272 rs1559544309 |
178 | N>D | No |
ClinGen Ensembl |
|
|
rs771333892 CA2289454 |
178 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1329006958 CA351906260 |
179 | I>V | No |
ClinGen TOPMed |
|
|
rs749482225 CA2289453 |
180 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71662547 rs958601385 |
180 | Q>L | No |
ClinGen TOPMed |
|
|
rs369784943 CA2289451 |
181 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351906214 rs369784943 |
181 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2289452 rs369784943 |
181 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs981738620 CA71662524 |
182 | V>M | No |
ClinGen gnomAD |
|
|
rs1473246525 CA351906125 |
187 | N>D | No |
ClinGen gnomAD |
|
|
CA351906123 rs1473246525 |
187 | N>Y | No |
ClinGen gnomAD |
|
|
CA351906087 rs1160026836 |
189 | A>G | No |
ClinGen TOPMed |
|
|
CA71662458 rs375469580 |
189 | A>P | No |
ClinGen Ensembl |
|
|
CA2289446 rs376678889 |
191 | Q>* | Congenital disorder of deglycosylation (cddg) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
| TCGA novel | 196 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371185733 CA351905983 |
197 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450475613 CA351905979 |
198 | I>F | No |
ClinGen TOPMed |
|
|
rs764190715 CA2289440 |
199 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2289438 rs775364757 |
201 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs763192562 CA2289436 |
204 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs773327177 CA2289435 |
206 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2289432 rs777110722 |
211 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351905794 rs769094117 |
212 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA71662376 rs879052893 |
212 | S>P | No |
ClinGen Ensembl |
|
|
CA2289431 rs769094117 |
212 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA351905772 rs1161631791 |
214 | A>P | No |
ClinGen gnomAD |
|
|
rs563065066 CA351905740 |
216 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148972130 CA2289425 |
216 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2289423 rs376646172 |
219 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA71662334 rs1000151871 |
219 | K>R | No |
ClinGen Ensembl |
|
|
CA351905697 rs1265492821 |
220 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs369388667 CA71656936 |
221 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2289402 rs755705306 |
222 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs529208533 CA2289400 |
224 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1244504468 CA351904593 |
226 | E>* | No |
ClinGen gnomAD |
|
|
CA2289398 rs751255754 |
231 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs143353538 CA71656908 |
232 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs866736138 CA71656907 |
234 | L>M | No |
ClinGen Ensembl |
|
|
CA2289397 rs766201614 |
235 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2289396 rs761901772 |
238 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304227051 CA351904236 |
241 | F>V | No |
ClinGen Ensembl |
|
|
rs775976410 CA2289392 |
247 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2289390 rs760098202 |
248 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440956965 CA351903914 |
250 | C>F | No |
ClinGen gnomAD |
|
|
CA351903881 rs1212609894 |
251 | S>R | No |
ClinGen TOPMed |
|
|
rs1485205247 CA351903878 |
252 | K>E | No |
ClinGen TOPMed |
|
|
rs1177599962 CA351903834 |
252 | K>N | No |
ClinGen gnomAD |
|
|
rs1485205247 CA351903879 |
252 | K>Q | No |
ClinGen TOPMed |
|
|
CA2289387 rs748897361 |
254 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs777616612 CA2289386 |
255 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA71656838 rs865828868 |
256 | Q>* | No |
ClinGen Ensembl |
|
|
rs1242450779 CA351903705 |
256 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351903716 rs1276332899 |
256 | Q>R | No |
ClinGen gnomAD |
|
|
CA71656832 rs200925557 |
258 | R>G | No |
ClinGen Ensembl |
|
|
CA351903658 rs1252562045 |
258 | R>K | No |
ClinGen TOPMed |
|
|
CA2289382 rs754806231 |
263 | S>* | No |
ClinGen ExAC |
|
|
CA2289380 rs779666541 |
265 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289381 rs779666541 |
265 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575622147 RCV001008629 |
267 | S>missing | No |
ClinVar dbSNP |
|
|
CA351903378 rs1436712969 |
268 | D>V | No |
ClinGen TOPMed |
|
|
CA2289377 rs764370236 |
269 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs202027326 CA351902693 |
273 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300275073 CA351902632 |
276 | K>E | No |
ClinGen TOPMed |
|
|
CA71656792 rs916085942 |
277 | E>G | No |
ClinGen TOPMed |
|
|
rs1257760157 CA351902567 |
279 | E>K | No |
ClinGen gnomAD |
|
|
CA2289373 rs147368318 |
280 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351902530 rs147368318 |
280 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2289372 rs200446388 |
281 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351902397 rs1354557048 |
285 | A>D | No |
ClinGen gnomAD |
|
|
CA2289369 rs766628355 |
288 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs375575749 CA2289366 |
292 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775963261 CA2289365 |
293 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA71655801 rs1006303858 |
295 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751980667 CA2289349 |
295 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA2289346 rs773653627 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1296841138 CA351902245 |
299 | E>K | No |
ClinGen gnomAD |
|
|
rs761507528 CA2289344 |
301 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA71655782 rs952264389 |
303 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs530497544 CA71655781 |
304 | T>A | No |
ClinGen 1000Genomes |
|
|
CA71655747 rs376459511 |
306 | C>R | No |
ClinGen ESP TOPMed |
|
|
rs768017869 CA2289342 |
308 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201024071 CA2289339 |
309 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2289340 rs775272602 |
309 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs201791209 CA2289337 |
311 | E>* | Congenital disorder of deglycosylation (cddg) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA351902106 rs1575619902 |
312 | W>G | No |
ClinGen Ensembl |
|
|
rs748299536 CA2289335 COSM1131487 |
314 | N>S | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA351902044 rs1487634332 |
315 | C>Y | No |
ClinGen gnomAD |
|
|
CA351902018 rs1260158930 |
317 | T>P | No |
ClinGen gnomAD |
|
|
CA351902004 rs1199692488 |
318 | L>V | No |
ClinGen gnomAD |
|
|
rs751720023 CA351901947 |
321 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2289332 rs751720023 |
321 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780295430 CA2289331 |
322 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200601419 CA2289330 |
323 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2289329 rs750989160 |
324 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1575619826 CA351901903 |
325 | F>V | No |
ClinGen Ensembl |
|
|
rs762276611 CA2289326 |
328 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351901830 rs753425724 |
329 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289325 rs753425724 |
329 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351901815 rs1488814663 |
330 | V>G | No |
ClinGen TOPMed |
|
|
rs1291397698 CA351901824 |
330 | V>I | No |
ClinGen TOPMed |
|
|
CA2289324 rs763863080 |
332 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1452611811 CA351901771 |
332 | D>G | No |
ClinGen gnomAD |
|
|
rs914279791 CA71655674 |
332 | D>Y | No |
ClinGen TOPMed |
|
|
CA2289323 rs760254613 |
334 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351901729 rs760254613 |
334 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559535436 CA351901038 |
337 | V>I | No |
ClinGen Ensembl |
|
|
rs915412085 CA71655015 CA351901025 |
338 | W>C | No |
ClinGen TOPMed |
|
|
CA2289290 rs757712371 |
342 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351900997 rs778154955 |
343 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs778154955 CA2289287 |
343 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2289286 rs756488516 |
345 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2289281 rs751014586 |
354 | A>G | No |
ClinGen ExAC |
|
|
rs754474006 CA351900923 |
354 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754474006 CA2289282 |
354 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289279 rs762908677 |
355 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773072861 CA2289278 |
355 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351900912 rs1361900722 |
356 | E>* | No |
ClinGen TOPMed |
|
|
CA2289277 rs761765312 |
357 | D>G | No |
ClinGen ExAC |
|
|
rs761765312 CA2289276 |
357 | D>V | No |
ClinGen ExAC |
|
|
rs775839335 CA2289275 |
358 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs775839335 CA351900900 |
358 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2289272 rs770942574 |
359 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA2289271 rs770942574 |
359 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs746089736 CA2289273 |
359 | C>Y | No |
ClinGen ExAC |
|
|
CA2289268 rs202119444 |
360 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289270 rs778186965 |
360 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs778186965 CA2289269 |
360 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203483986 CA351900872 |
362 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351900868 rs1559535285 |
363 | L>R | No |
ClinGen Ensembl |
|
|
CA2289267 rs748571284 |
364 | L>V | No |
ClinGen ExAC |
|
|
rs781551501 CA2289266 |
367 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1488844894 CA351900841 |
367 | I>T | No |
ClinGen TOPMed |
|
|
CA2289265 rs754558670 |
368 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2289263 rs765889601 |
369 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2289264 rs751244487 |
369 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA2289262 rs757885829 |
370 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2289261 rs750369123 |
372 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2289260 rs765144358 |
374 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA2289259 rs761852896 |
375 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1218554952 CA351900732 |
376 | V>I | No |
ClinGen TOPMed |
|
|
CA351900702 rs1484575882 |
378 | A>T | No |
ClinGen TOPMed |
|
|
CA351900690 rs1177368140 |
378 | A>V | No |
ClinGen gnomAD |
|
|
rs764008677 CA2289257 |
381 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2289235 rs763955751 |
384 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA71653948 rs755606833 |
386 | D>V | No |
ClinGen Ensembl |
|
|
CA351900197 rs751805500 |
390 | R>* | Variant assessed as Somatic; impact. Congenital disorder of deglycosylation (cddg) [NCI-TCGA, Ensembl] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351900154 rs1213871077 |
393 | C>R | No |
ClinGen gnomAD |
|
|
CA2289231 rs763251969 |
394 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351900134 rs763251969 |
394 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201163732 CA71653916 |
396 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1220069821 CA351900074 |
397 | E>A | No |
ClinGen TOPMed |
|
|
rs201337954 CA2289226 |
401 | R>G | Congenital disorder of deglycosylation (cddg) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1451157480 CA351900011 |
401 | R>I | No |
ClinGen gnomAD |
|
|
CA2289225 rs780478688 |
403 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1474736365 CA351899949 |
405 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1474736365 CA351899948 |
405 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1385678192 CA351899941 |
406 | K>Q | No |
ClinGen TOPMed |
|
|
rs778513258 CA351899886 |
412 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753800017 CA2289220 |
415 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1333121720 CA351899852 |
418 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2289218 rs755963030 |
420 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA351899836 rs755963030 |
420 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs113482989 CA351899835 |
420 | Q>P | No |
ClinGen gnomAD |
|
|
rs113482989 CA71653829 |
420 | Q>R | No |
ClinGen gnomAD |
|
|
CA351899353 rs1575614950 |
421 | R>S | No |
ClinGen Ensembl |
|
|
rs369598638 CA351899314 |
423 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199898452 CA2289197 |
424 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199898452 CA71653127 |
424 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754852315 CA2289196 |
424 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2289195 rs750639430 |
425 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs765500224 CA2289194 |
426 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1398932990 CA351899227 |
427 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753847475 CA2289192 |
433 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2289191 rs761035118 |
434 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043604336 CA71653104 |
435 | Q>* | No |
ClinGen Ensembl |
|
|
rs1202673994 CA351899112 |
439 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs543901983 CA71653093 |
440 | E>K | No |
ClinGen Ensembl |
|
|
CA2289187 rs760016381 |
441 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1280404493 CA351899087 |
442 | V>I | No |
ClinGen gnomAD |
|
|
rs144144643 CA351899039 |
445 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770653213 CA2289185 |
448 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187892679 CA351898936 |
452 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2289182 rs772810347 |
452 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs754714582 CA2289179 |
455 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289178 rs754714582 |
455 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351898884 rs1362717913 |
456 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779826640 CA2289176 |
459 | I>L | No |
ClinGen ExAC |
|
|
rs754079493 CA2289174 |
463 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764056387 CA71653057 |
464 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs764056387 CA2289173 |
464 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA2289172 rs756254761 |
465 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176823602 CA351898721 |
466 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753137266 CA2289171 |
467 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351898709 rs753137266 |
467 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753137266 CA351898705 |
467 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257352057 CA351898682 |
468 | A>V | No |
ClinGen gnomAD |
|
|
CA351898675 rs1484390511 COSM3427492 COSM3427493 |
469 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2289169 rs759978728 |
470 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351898633 rs1373522814 |
471 | E>D | No |
ClinGen TOPMed |
|
|
rs111544055 CA71653042 |
472 | M>I | No |
ClinGen Ensembl |
|
|
CA2289151 rs755505748 |
477 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA71651708 COSM1422216 rs937396884 |
478 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs564037973 CA351897255 |
479 | T>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA71651680 rs971586228 |
480 | L>F | No |
ClinGen TOPMed |
|
|
rs1020539053 CA71651679 |
481 | F>V | No |
ClinGen TOPMed |
|
|
CA71651676 rs890750095 |
482 | I>F | No |
ClinGen gnomAD |
|
|
CA2289146 rs763452939 |
483 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2289144 rs367577755 |
485 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761374303 CA2289143 |
488 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289142 rs776167001 |
490 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2289139 rs775442827 |
491 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA351897003 rs1575612044 |
492 | Q>R | No |
ClinGen Ensembl |
|
|
rs1006571126 CA71651652 |
494 | H>Q | No |
ClinGen TOPMed |
|
|
CA2289138 rs771847637 |
495 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA351896841 rs1553652194 |
499 | I>V | No |
ClinGen Ensembl |
|
|
CA2289137 COSM1043388 rs745718089 |
503 | R>C | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2289135 rs769994659 |
504 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs769994659 CA351896741 |
504 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA2289134 COSM1043387 rs748353137 |
506 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA351896667 rs1162936229 |
508 | S>L | No |
ClinGen TOPMed |
|
|
rs770918167 CA71651606 |
509 | N>K | No |
ClinGen Ensembl |
|
|
rs752084106 CA2289131 |
509 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780775631 CA2289130 |
510 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA71651598 rs563724353 |
511 | N>Y | No |
ClinGen Ensembl |
|
|
CA351896579 rs1370451609 |
512 | Q>H | No |
ClinGen gnomAD |
|
|
CA351896546 rs1355647613 |
514 | I>T | No |
ClinGen gnomAD |
|
|
rs750731482 CA2289127 |
520 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 521 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454457561 CA351896441 |
521 | V>E | No |
ClinGen gnomAD |
|
|
CA71651589 rs141947390 |
521 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA2289123 rs763560541 |
523 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs983667094 CA71651581 |
524 | M>V | No |
ClinGen gnomAD |
|
|
rs1233439143 CA351896266 |
527 | I>K | No |
ClinGen gnomAD |
|
|
CA351896248 rs1228261255 |
528 | F>L | No |
ClinGen TOPMed |
|
|
rs1203724267 CA351896210 |
528 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 529 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2289121 rs775390029 |
533 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 534 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2289120 rs767388144 |
535 | W>S | Congenital disorder of deglycosylation (cddg) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1290329126 CA351896066 |
536 | H>D | No |
ClinGen TOPMed |
|
|
CA351896052 rs1301462611 |
537 | M>I | No |
ClinGen gnomAD |
|
|
CA2289117 rs567055993 |
537 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2289102 rs761945483 |
542 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351894450 rs1306756725 |
543 | K>N | No |
ClinGen gnomAD |
|
|
rs1222357819 CA351894433 |
544 | E>D | No |
ClinGen gnomAD |
|
|
CA351894431 rs1575604175 |
545 | G>R | No |
ClinGen Ensembl |
|
|
rs766166589 CA2289100 |
549 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351894341 rs1185590250 |
551 | I>M | No |
ClinGen TOPMed |
|
|
rs1243695450 CA351894353 |
551 | I>V | No |
ClinGen gnomAD |
|
|
rs1390358776 CA351894336 |
552 | S>A | No |
ClinGen Ensembl |
|
|
rs923804353 CA71657383 |
552 | S>C | No |
ClinGen Ensembl |
|
|
rs1414923842 CA351894275 |
556 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351894263 rs1446295416 |
557 | C>Y | No |
ClinGen TOPMed |
|
|
CA351894243 rs1181668126 |
559 | S>P | No |
ClinGen TOPMed |
|
|
CA71657377 rs796112007 |
560 | V>A | No |
ClinGen Ensembl |
|
|
CA2289096 rs532299911 |
561 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199719904 CA2289097 |
561 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866215119 CA71657372 |
565 | D>N | No |
ClinGen Ensembl |
|
|
rs775661479 CA2289094 |
567 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772327240 CA351894128 |
569 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772327240 CA2289093 |
569 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543665052 CA2289092 |
570 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763300543 CA2289091 |
571 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs757626321 CA2289090 |
572 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2289087 rs778118965 |
575 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2289085 rs752373766 |
577 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs780662676 CA2289084 |
578 | T>P | No |
ClinGen ExAC gnomAD |
|
|
COSM479995 rs916571774 CA71657305 |
580 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs370212388 CA2289083 |
580 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA71657294 VAR_027385 rs7621398 |
581 | V>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1378247358 CA351893973 |
582 | E>G | No |
ClinGen TOPMed |
|
|
CA351893924 rs1383370693 |
586 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs376913179 CA2289080 |
586 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA71657290 rs1035243196 |
589 | T>A | No |
ClinGen gnomAD |
|
|
rs1432682263 CA351893885 |
589 | T>I | No |
ClinGen gnomAD |
|
|
VAR_027386 CA71657280 rs7635089 |
591 | Q>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1460871503 CA351893841 |
593 | E>G | No |
ClinGen gnomAD |
|
|
rs1026628243 CA71657276 |
593 | E>K | No |
ClinGen TOPMed |
|
| rs775894258 | 596 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351893814 rs1201493338 |
596 | G>S | No |
ClinGen TOPMed |
|
|
CA351893800 rs1429153517 |
597 | D>N | No |
ClinGen gnomAD |
|
|
CA351893719 rs1353013215 |
597 | D>V | No |
ClinGen TOPMed |
|
|
CA71656986 rs200463539 |
599 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2289048 rs773753144 |
599 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770140676 CA2289047 |
600 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946551466 CA71656963 |
600 | L>V | No |
ClinGen Ensembl |
|
|
rs895012873 CA71656957 |
601 | H>R | No |
ClinGen Ensembl |
|
|
rs899798907 CA71656952 |
602 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2289046 rs112709918 |
602 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2289044 rs768128267 |
604 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA351893599 rs1487856913 |
605 | D>N | No |
ClinGen gnomAD |
|
|
rs1436602858 CA351893561 |
607 | S>C | No |
ClinGen gnomAD |
|
|
rs1376341572 CA351893533 |
609 | A>T | No |
ClinGen gnomAD |
|
|
CA351893511 rs1156427347 |
610 | T>N | No |
ClinGen TOPMed |
|
|
rs1173214162 CA351893499 |
611 | E>K | No |
ClinGen gnomAD |
|
|
CA351893375 rs1365898166 |
618 | L>* | No |
ClinGen gnomAD |
|
|
rs1470026848 CA351893354 |
619 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 620 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71656922 rs972724200 |
624 | D>G | No |
ClinGen Ensembl |
|
|
CA2289040 rs757965768 |
625 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3823596 CA2289037 COSM3823595 rs757269967 |
626 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001268188 rs1704870760 |
627 | W>* | No |
ClinVar dbSNP |
|
|
CA2289035 rs763977884 |
629 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1262286835 CA351893270 |
629 | H>Y | No |
ClinGen gnomAD |
|
|
CA351893251 rs1308701388 |
632 | L>V | No |
ClinGen gnomAD |
|
|
rs1412993268 CA351893229 |
635 | Q>R | No |
ClinGen gnomAD |
|
|
CA351893211 rs1387327668 |
637 | L>F | No |
ClinGen gnomAD |
|
|
RCV000522933 rs1553649843 |
638 | N>missing | No |
ClinVar dbSNP |
|
|
rs766341686 CA2289032 |
638 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 639 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351893192 rs1190662109 |
640 | H>R | No |
ClinGen gnomAD |
|
|
CA2289029 rs765675803 |
641 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765675803 CA351893188 |
641 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 642 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139377441 CA2289027 |
644 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139377441 CA2289028 |
644 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769112653 CA2289026 |
645 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs746609579 CA2289025 |
649 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA71656862 rs984269608 |
649 | I>T | No |
ClinGen TOPMed |
|
|
rs974316988 CA71656855 |
651 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775279899 CA71656845 |
651 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954345464 CA71656852 |
651 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 654 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349637912 CA542154852 |
655 | L>L | No |
ClinGen gnomAD |
1 associated diseases with Q96IV0
[MIM: 615273]: Congenital disorder of deglycosylation 1 (CDDG1)
An autosomal recessive multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles. {ECO:0000269|PubMed:22581936, ECO:0000269|PubMed:24651605}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles. {ECO:0000269|PubMed:22581936, ECO:0000269|PubMed:24651605}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.5.1.52 | In linear amides |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity | Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| ER-associated misfolded protein catabolic process | The chemical reactions and pathways resulting in the breakdown of misfolded proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation. |
| glycoprotein catabolic process | The chemical reactions and pathways resulting in the breakdown of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. |
| protein deglycosylation | The removal of sugar residues from a glycosylated protein. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein quality control for misfolded or incompletely synthesized proteins | The chemical reactions and pathways resulting in the breakdown of misfolded or attenuated proteins. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9FGY9 | PNG1 | Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAALGSSS | GSASPAVAEL | CQNTPETFLE | ASKLLLTYAD | NILRNPNDEK | YRSIRIGNTA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FSTRLLPVRG | AVECLFEMGF | EEGETHLIFP | KKASVEQLQK | IRDLIAIERS | SRLDGSNKSH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVKSSQQPAA | STQLPTTPSS | NPSGLNQHTR | NRQGQSSDPP | SASTVAADSA | ILEVLQSNIQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HVLVYENPAL | QEKALACIPV | QELKRKSQEK | LSRARKLDKG | INISDEDFLL | LELLHWFKEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FFHWVNNVLC | SKCGGQTRSR | DRSLLPSDDE | LKWGAKEVED | HYCDACQFSN | RFPRYNNPEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLETRCGRCG | EWANCFTLCC | RAVGFEARYV | WDYTDHVWTE | VYSPSQQRWL | HCDACEDVCD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KPLLYEIGWG | KKLSYVIAFS | KDEVVDVTWR | YSCKHEEVIA | RRTKVKEALL | RDTINGLNKQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RQLFLSENRR | KELLQRIIVE | LVEFISPKTP | KPGELGGRIS | GSVAWRVARG | EMGLQRKETL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FIPCENEKIS | KQLHLCYNIV | KDRYVRVSNN | NQTISGWENG | VWKMESIFRK | VETDWHMVYL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ARKEGSSFAY | ISWKFECGSV | GLKVDSISIR | TSSQTFQTGT | VEWKLRSDTA | QVELTGDNSL |
| 610 | 620 | 630 | 640 | 650 | |
| HSYADFSGAT | EVILEAELSR | GDGDVAWQHT | QLFRQSLNDH | EENCLEIIIK | FSDL |