Q04446
PR
Gene name |
GBE1 |
Protein name |
1,4-alpha-glucan-branching enzyme |
Names |
Brancher enzyme, Glycogen-branching enzyme |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2632 |
EC number |
2.4.1.18: Hexosyltransferases |
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
4 structures for Q04446
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4BZY | X-ray | 275 A | A/B/C | 1-702 | PDB |
| 5CLT | X-ray | 279 A | A/B/C | 38-700 | PDB |
| 5CLW | X-ray | 280 A | A/B/C | 38-700 | PDB |
| AF-Q04446-F1 | Predicted | AlphaFoldDB |
640 variants for Q04446
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001149608 rs62267114 RCV000513618 RCV000704354 RCV000764515 RCV000509180 CA2500119 |
5 | M>I | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759518868 RCV001148058 CA2500116 RCV001858970 RCV001148059 |
8 | A>V | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1575782181 RCV000002923 |
13 | D>missing | Glycogen storage disease IV, combined hepatic and myopathic [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001829996 CA2500108 rs774709930 RCV001246737 |
15 | E>K | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1407149518 RCV001247939 RCV001830027 |
24 | D>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002500853 rs35196441 CA2500086 RCV000254002 RCV001705331 RCV000963132 RCV000665935 RCV001147158 |
40 | P>T | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000175535 RCV001469389 CA241296 rs544821452 |
57 | K>R | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000251034 CA2500041 RCV000343961 rs28763904 RCV000398909 RCV001083974 RCV000443750 |
59 | I>T | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053285 rs1705761854 |
68 | K>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779371387 CA2500033 RCV001145201 RCV001145202 |
68 | K>M | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1705760813 RCV001305040 |
87 | Y>H | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000409231 RCV003137987 rs1057517315 RCV000706367 |
97 | G>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762945205 RCV002506514 RCV001145200 CA2500022 RCV002531882 RCV001145199 RCV000623920 |
98 | V>L | Adult polyglucosan body disease Glycogen storage disease, type IV Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773473771 RCV001224752 |
112 | Y>* | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034188 rs377305989 CA2499996 RCV000224885 |
116 | K>E | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002225767 CA2499995 RCV000909016 rs186942296 RCV001275862 |
117 | L>P | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA353688843 RCV000500431 rs1553690406 |
139 | G>* | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2499959 RCV002224045 rs763302311 RCV002537765 RCV001277707 |
156 | R>C | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type IV [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001516921 RCV000318439 RCV000178721 RCV000675509 CA202992 RCV000375379 VAR_022109 rs2229519 |
190 | R>G | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2499904 RCV000916336 rs201166587 RCV001683693 RCV001147944 RCV001147943 |
214 | A>T | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000333636 CA10616732 rs886058901 RCV000276159 |
216 | Y>C | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001147941 RCV001147942 CA353688265 RCV001882454 rs1350258947 |
222 | N>S | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs137852886 RCV001050904 RCV000210781 RCV000002909 RCV000056134 VAR_022429 CA115745 |
224 | L>P | Adult polyglucosan body neuropathy Glycogen storage disease IV, nonprogressive hepatic Glycogen storage disease, type IV GSD4; loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002254901 RCV001851597 RCV000002924 RCV001580444 CA115762 rs137852892 |
236 | Q>H | Glycogen storage disease, type IV Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2499874 RCV000272591 RCV000329970 RCV002523458 rs747155575 |
241 | M>V | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001147053 RCV000416121 RCV001147052 RCV001245740 rs770427750 RCV001584110 CA2499872 |
254 | T>A | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA115749 rs137852887 RCV001851594 VAR_022430 RCV000002912 RCV000056143 RCV000433912 |
257 | F>L | Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV GSD4; loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA353688015 rs1576183537 RCV000987294 |
257 | F>S | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001007858 rs1576183525 CA353688004 |
259 | A>G | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687227 CA353687585 rs1559673607 |
261 | S>R | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA115764 RCV002512687 RCV000002925 RCV000501317 RCV001826408 rs137852893 |
262 | R>C | Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002524352 RCV000674419 RCV002509416 CA2499857 RCV001770384 COSM1425542 COSM1425543 RCV000502833 rs369574719 |
262 | R>H | Adult polyglucosan body disease Variant assessed as Somatic; 0.0 impact. large_intestine Glycogen storage disease, type IV [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000364816 rs28763902 RCV002500855 RCV000960638 RCV000307794 CA2499846 RCV000247026 |
280 | G>D | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2499844 RCV000361697 rs116899644 RCV000916999 RCV000408276 |
287 | V>L | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001277706 rs1309818317 CA353687323 |
302 | M>I | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1189654498 CA353687325 RCV000817876 |
302 | M>T | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001046133 CA353687211 rs1490328834 RCV001827287 |
319 | H>R | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000779418 CA353687187 rs1559673456 RCV001856173 |
322 | W>* | Glycogen storage disease, type IV GBE1-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000529291 rs80338671 RCV001145097 RCV001172459 CA2499826 RCV000490240 RCV000410814 |
329 | Y>C | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA115743 RCV000763520 rs80338671 RCV000002907 RCV000493505 RCV000304728 VAR_022431 RCV000555363 RCV000150105 RCV000020163 RCV000991160 |
329 | Y>S | Adult polyglucosan body disease Adult polyglucosan body neuropathy Glycogen storage disease IV, nonprogressive hepatic Glycogen storage disease, type IV GBE1-Related Disorders GSD4; non-progressive form; impairs protein stability; 50% residual activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553684545 RCV001145096 RCV001145095 |
333 | E>G | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553684545 RCV000723295 CA353685960 RCV000624791 |
333 | E>V | Glycogen storage disease, type IV Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869312919 CA358066 RCV000210600 RCV002515586 RCV001828050 |
355 | R>H | Glycogen storage disease, type IV Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1703917500 RCV001149395 RCV001149394 |
357 | D>G | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000666996 RCV001080686 RCV000513273 rs36099971 CA2499775 RCV001149393 |
378 | S>R | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757297254 RCV001443953 RCV001277705 CA2499766 RCV002537764 |
402 | T>A | Glycogen storage disease, type IV Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001277704 rs1703871141 |
405 | P>S | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1434653319 CA353685464 RCV001277703 |
406 | D>N | Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type IV [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000585026 rs760095778 RCV002530857 CA2499760 |
408 | I>V | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001275861 RCV001048981 rs758504480 RCV000519597 |
413 | D>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002271617 rs1703800818 RCV001069440 |
416 | G>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535901 CA2499716 RCV001849097 rs756129254 RCV001275622 RCV000794121 |
428 | G>A | Glycogen storage disease, type IV Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000660374 CA2499714 rs745594101 |
429 | G>A | Adult polyglucosan body disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781198373 CA2499712 RCV001037666 RCV001827226 |
434 | R>* | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1703799830 RCV001201799 |
441 | D>G | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1048726 rs752100789 RCV001236290 CA2499685 COSM1048727 |
459 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium Glycogen storage disease, type IV [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001035503 rs1703726090 |
462 | Y>* | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776526697 RCV001242543 |
468 | R>S | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000336211 rs760661724 RCV000278997 RCV000941062 CA2499676 |
469 | Y>C | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000734986 CA2499665 rs758786811 RCV001825486 |
482 | Q>E | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771241994 CA2499644 RCV001147851 RCV001147850 |
485 | V>A | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001833237 rs747404758 RCV000224485 CA2499643 |
487 | D>G | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001275350 RCV001203493 rs774465102 RCV000523375 |
490 | L>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2499640 RCV001828772 RCV001222356 rs772670028 |
491 | A>T | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000660623 RCV000779417 RCV003117462 RCV000764514 RCV001240088 CA2499637 RCV000728026 rs201758548 |
498 | E>K | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000675504 RCV000552347 RCV000389688 VAR_034749 RCV000351575 RCV000248959 rs2228389 CA2499634 |
507 | T>A | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000020161 RCV000002910 RCV001246690 CA115747 RCV000210646 rs80338672 VAR_022432 |
515 | R>C | Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Inborn genetic diseases GSD4; loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001275349 rs201958741 RCV000692455 RCV000519980 RCV001826858 CA185932 RCV000157612 RCV002252009 VAR_022433 |
515 | R>H | Adult polyglucosan body disease Adult polyglucosan body neuropathy Glycogen storage disease, type IV APBN [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000056093 RCV000490013 COSM3427915 rs137852888 RCV000002913 RCV002490300 RCV001052971 RCV000002914 CA115751 COSM3427916 |
524 | R>* | Adult polyglucosan body disease Variant assessed as Somatic; 0.0 impact. Glycogen storage disease IV, classic hepatic large_intestine Glycogen storage disease, type IV Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA353684655 RCV002483363 rs137852888 RCV000526226 |
524 | R>G | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000020162 RCV000002915 rs80338673 RCV000150107 VAR_022434 CA115753 RCV001043400 |
524 | R>Q | Adult polyglucosan body neuropathy Glycogen storage disease IV, combined hepatic and myopathic Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type IV GSD4 and APBN [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001828341 rs886058900 CA10616731 RCV001850838 RCV000329434 |
535 | Y>C | Glycogen storage disease, type IV GBE1-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1703086906 RCV001052710 RCV002271616 |
541 | N>D | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000056095 VAR_022435 rs137852889 CA115756 RCV000002919 |
545 | H>R | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease, type IV GSD4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056096 COSM1048718 RCV000002927 COSM1048719 CA115767 rs137852894 |
548 | W>* | endometrium Glycogen storage disease, type IV Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
rs544404712 RCV001830563 CA78280351 RCV000705832 |
549 | L>F | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs777589783 RCV001830700 RCV000794025 CA2499598 |
552 | P>L | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001146943 RCV001146944 rs1703085718 |
559 | S>I | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680446 CA353686558 rs1559637815 |
560 | Y>* | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2499591 COSM584858 rs552094593 RCV001329659 RCV000487962 COSM584859 RCV002528222 RCV000855462 RCV001829394 |
565 | R>W | lung Adult polyglucosan body disease Fetal akinesia deformation sequence 1 Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type IV [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs137852890 RCV000002920 CA115758 RCV000056097 |
592 | E>* | Glycogen storage disease, type IV Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2499570 rs370246900 RCV001835007 RCV000631179 |
594 | Y>C | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA78280342 RCV001224672 RCV001828791 rs201029706 |
596 | W>* | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2499546 rs760015364 RCV001277701 RCV002537763 |
604 | V>M | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002610130 rs1175447973 |
608 | H>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001144993 RCV003144551 RCV001144992 RCV000700490 RCV002307601 COSM447052 COSM447053 rs772802187 CA2499542 |
609 | E>K | Adult polyglucosan body disease Glycogen storage disease, type IV breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001007843 rs1576137368 |
622 | L>missing | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2499535 RCV000358538 RCV000262535 rs769567764 |
625 | F>C | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001301590 rs185631651 RCV001825509 CA2499534 RCV000762123 RCV002507334 |
626 | N>S | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000056098 RCV001092351 rs137852891 VAR_022436 RCV000002922 RCV001851596 CA115760 |
628 | H>R | Glycogen storage disease, type IV Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form GSD4; childhood neuromuscular form; 15 to 25% residual activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000808547 rs766935302 CA2499528 RCV000303766 RCV001275347 |
637 | R>* | Glycogen storage disease, type IV GBE1-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000998105 RCV001563833 RCV001563832 rs761908536 CA2499496 RCV000631178 |
663 | L>P | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002494611 CA2499485 RCV000224407 RCV000245211 RCV001151098 rs193074572 RCV001082988 RCV001151097 |
673 | A>T | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202158511 RCV001354590 RCV000966281 RCV000297840 RCV000357256 CA2499484 |
679 | R>C | Adult polyglucosan body disease Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001085622 CA2499460 RCV000675502 rs192877602 RCV002252209 RCV001275618 |
692 | A>T | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1337608522 RCV001277699 CA353686737 |
699 | D>Y | Glycogen storage disease, type IV [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA353687107 rs779869964 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA2500123 rs779869964 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755764551 CA2500122 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1274008487 CA353687101 |
3 | A>V | No |
ClinGen gnomAD |
|
|
CA353687096 rs1283434351 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA353687097 rs1283434351 |
4 | P>R | No |
ClinGen gnomAD |
|
|
CA2500121 rs750274939 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1359193851 CA353687092 |
5 | M>K | No |
ClinGen gnomAD |
|
|
rs1359193851 CA353687091 |
5 | M>T | No |
ClinGen gnomAD |
|
|
rs751423254 CA2500118 |
6 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765422566 CA2500117 |
7 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401990930 CA353687082 |
7 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1401990930 CA353687080 |
7 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1297879927 CA353687077 |
8 | A>T | No |
ClinGen gnomAD |
|
|
CA2500114 rs367994473 |
9 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353687067 rs878955615 |
10 | R>G | No |
ClinGen TOPMed |
|
|
CA353687065 rs1260965194 |
10 | R>P | No |
ClinGen gnomAD |
|
|
CA78304370 rs878955615 |
10 | R>W | No |
ClinGen TOPMed |
|
|
rs374736117 CA2500113 |
11 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA78304369 rs374736117 |
11 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1024161275 CA78304367 |
12 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2500111 rs772401056 |
12 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA353687059 rs772401056 |
12 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1328296506 CA353687039 |
14 | Y>* | No |
ClinGen gnomAD |
|
|
CA2500109 rs762419665 |
14 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA353687044 rs1263306725 |
14 | Y>H | No |
ClinGen gnomAD |
|
|
CA2500106 rs370326965 |
15 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1575782168 CA353687029 |
16 | A>G | No |
ClinGen Ensembl |
|
|
rs1027281727 CA78304366 |
16 | A>T | No |
ClinGen Ensembl |
|
|
rs1363157562 CA353687023 |
17 | A>G | No |
ClinGen TOPMed |
|
|
rs779675484 CA2500105 |
18 | L>F | No |
ClinGen ExAC |
|
|
CA2500104 rs769594412 |
19 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2500103 rs745494664 |
20 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA78304365 rs897545409 |
21 | A>V | No |
ClinGen Ensembl |
|
|
rs374678652 CA78304364 |
25 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374678652 CA2500098 |
25 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2500099 rs376939059 |
25 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA78304363 rs1009049937 |
26 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2500097 rs544656607 |
27 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2500096 rs544656607 |
27 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236771685 CA353686955 |
30 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2500095 rs756372773 |
30 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs539925873 CA2500094 |
31 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA78304361 rs925976593 |
31 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353686946 rs925976593 |
31 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2500093 rs767934221 |
32 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA353686939 rs1274572939 |
33 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA353686937 rs1447849138 |
33 | E>G | No |
ClinGen gnomAD |
|
|
CA2500092 rs774715256 |
34 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2500091 rs774715256 |
34 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs763469617 CA2500089 |
36 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs932010631 CA353686902 |
38 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776408719 CA2500085 |
42 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353686865 rs1413025980 |
44 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353686864 rs1413025980 |
44 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2500082 rs777583603 |
45 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2500083 rs376360290 |
45 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758286394 CA2500081 |
46 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748051809 CA2500080 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2500079 rs564039983 |
47 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353686845 rs564039983 |
47 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765887208 CA2500046 |
49 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2500045 rs760281369 |
51 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1245333229 CA353687939 |
53 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 55 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204592637 CA353687922 |
56 | L>M | No |
ClinGen gnomAD |
|
|
rs772910188 CA2500044 |
57 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2500043 rs372507841 |
58 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2500042 rs576005761 |
59 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781169467 CA2500039 |
61 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA353687863 rs1338424154 |
64 | G>V | No |
ClinGen gnomAD |
|
|
CA2500038 rs771039289 |
65 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440502400 CA353687860 |
65 | G>V | No |
ClinGen TOPMed |
|
|
CA2500036 rs189658580 |
66 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2500037 rs189658580 |
66 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2500035 rs368256869 |
67 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2500034 rs368256869 COSM123326 |
67 | D>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1164750898 CA353687830 |
70 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2500032 rs755590449 |
71 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs775630334 CA78298514 |
72 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs760800543 CA78298515 |
72 | G>S | No |
ClinGen Ensembl |
|
|
rs775630334 CA353687816 |
72 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1457495909 CA353687811 |
73 | Y>C | No |
ClinGen gnomAD |
|
|
rs1267044758 CA353687790 |
76 | F>C | No |
ClinGen TOPMed |
|
|
CA353687789 rs1267044758 |
76 | F>S | No |
ClinGen TOPMed |
|
|
rs1197663123 CA353687785 |
77 | G>S | No |
ClinGen gnomAD |
|
|
rs760216641 COSM1048741 CA2500029 COSM1048740 |
78 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA353687768 rs1450879957 |
79 | H>Q | No |
ClinGen TOPMed |
|
|
rs1250756594 CA353687772 |
79 | H>Y | No |
ClinGen TOPMed |
|
|
rs1245210069 CA353687766 |
80 | R>G | No |
ClinGen gnomAD |
|
|
rs1357189578 CA353687754 |
81 | C>F | No |
ClinGen gnomAD |
|
|
CA353687751 rs1316974233 |
82 | A>T | No |
ClinGen gnomAD |
|
|
CA2500028 rs372017958 |
84 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1042498 CA78298511 |
88 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2500025 rs1042498 |
88 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 90 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2500024 rs200746350 |
93 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs895720950 CA78298509 |
94 | G>A | No |
ClinGen Ensembl |
|
|
CA2500023 rs763846308 |
96 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775486403 CA2500021 |
98 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269746087 CA353687640 |
99 | F>L | No |
ClinGen TOPMed |
|
|
CA78298508 rs868033452 |
100 | L>V | No |
ClinGen Ensembl |
|
|
CA353687620 rs1164614112 |
102 | G>R | No |
ClinGen gnomAD |
|
|
CA353689066 rs1481429815 |
105 | N>S | No |
ClinGen gnomAD |
|
|
rs528845937 CA78294826 |
106 | G>S | No |
ClinGen Ensembl |
|
|
CA78294825 rs747997190 |
108 | N>K | No |
ClinGen Ensembl |
|
|
CA2500003 rs762821088 |
108 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM197122 CA2500002 rs775083576 |
111 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772247658 CA2499998 |
114 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353688988 rs1395771433 |
116 | K>N | No |
ClinGen TOPMed |
|
|
CA353688964 rs1559682800 |
120 | G>A | No |
ClinGen Ensembl |
|
|
CA2499992 rs756696982 |
121 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441953389 CA353688949 |
122 | W>L | No |
ClinGen TOPMed |
|
|
rs1320711922 CA353688953 |
122 | W>R | No |
ClinGen gnomAD |
|
|
CA2499990 rs780752628 |
125 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756747975 CA2499989 |
126 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2499987 rs763742280 |
127 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976980359 CA78294823 |
127 | P>S | No |
ClinGen Ensembl |
|
|
CA78294822 rs757945104 |
129 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA78294821 rs927690773 |
130 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2499985 rs752557522 |
132 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2499984 rs764917202 |
133 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs565408717 CA2499982 |
136 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA353688855 rs1325242939 |
137 | P>H | No |
ClinGen gnomAD |
|
|
CA2499981 rs767762796 |
138 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 139 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192634867 CA353688834 |
140 | S>F | No |
ClinGen TOPMed |
|
|
rs1330514211 CA353688818 |
143 | K>E | No |
ClinGen gnomAD |
|
|
CA2499980 rs376374984 |
143 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753628829 CA2499966 |
144 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753628829 CA2499965 |
144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1279137877 CA353688776 |
147 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1440264708 CA353688769 |
148 | S>C | No |
ClinGen gnomAD |
|
|
rs760648342 CA2499962 |
151 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA353688731 rs1369738793 |
153 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs901387655 CA353688722 CA78292506 |
154 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs764050407 CA2499960 |
155 | Y>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374404487 CA2499958 |
156 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770004880 CA2499957 |
157 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1234168631 CA353688708 |
157 | I>N | No |
ClinGen gnomAD |
|
|
CA353688699 rs1204535314 |
158 | S>* | No |
ClinGen gnomAD |
|
|
CA353688693 rs1559676007 |
159 | P>L | No |
ClinGen Ensembl |
|
|
CA2499955 rs776943352 |
160 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs771447249 CA2499954 |
163 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499953 rs747489752 |
164 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA353688663 rs1283967979 |
164 | V>M | No |
ClinGen gnomAD |
|
|
CA353688657 COSM4158667 rs1280227376 COSM4158666 |
165 | V>L | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2499951 rs376546162 |
166 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs935683673 CA78292503 |
166 | R>H | No |
ClinGen TOPMed |
|
|
rs935683673 CA78292504 |
166 | R>P | No |
ClinGen TOPMed |
|
|
CA2499948 rs567790853 |
168 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 169 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428107818 CA353688623 |
170 | N>I | No |
ClinGen TOPMed |
|
|
CA2499946 rs779975928 |
171 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA78292502 rs779975928 |
171 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499947 rs753715816 |
171 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2499944 rs571116428 |
176 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499945 rs554273784 |
176 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM384035 COSM384036 rs764293419 CA2499943 |
178 | W>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752759725 CA2499941 |
179 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2499942 rs758425725 |
179 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA353688562 rs758425725 |
179 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1327623597 CA353688530 |
183 | S>L | No |
ClinGen TOPMed |
|
|
rs1355370843 CA353688528 |
184 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 185 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2499940 rs765411151 |
185 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053242548 CA78292416 |
186 | F>C | No |
ClinGen TOPMed |
|
|
CA2499917 rs761041809 |
186 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs773558446 CA2499916 |
188 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1466071167 CA353688483 |
188 | H>Q | No |
ClinGen gnomAD |
|
|
CA78292415 rs2229519 |
190 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436026072 CA353688469 |
191 | P>S | No |
ClinGen gnomAD |
|
|
CA2499912 rs749007448 |
194 | P>L | No |
ClinGen ExAC |
|
|
CA2499913 rs768278350 |
194 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368555635 CA353688443 |
195 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368555635 CA2499910 |
195 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371086146 CA2499911 |
195 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2499909 rs745684184 |
197 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480376594 CA353688422 |
199 | I>V | No |
ClinGen gnomAD |
|
|
rs1182578793 CA353688402 |
201 | E>D | No |
ClinGen TOPMed |
|
|
CA78292414 rs999992323 |
203 | H>Y | No |
ClinGen TOPMed |
|
|
CA78292413 rs751766778 |
205 | G>R | No |
ClinGen Ensembl |
|
|
rs1576184666 CA353688360 |
208 | S>Y | No |
ClinGen Ensembl |
|
|
rs757193271 CA2499907 |
209 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs542346749 CA2499906 |
209 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466662281 CA353688328 |
213 | V>I | No |
ClinGen TOPMed |
|
|
COSM1538671 rs201166587 COSM1538672 CA78292412 |
214 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs886058901 CA353688308 |
216 | Y>F | No |
ClinGen gnomAD |
|
|
CA353688300 rs1308954470 |
217 | K>I | No |
ClinGen TOPMed |
|
|
rs758320251 CA2499901 |
221 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs758320251 CA78292411 |
221 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2499898 rs370664131 |
225 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs895470226 CA78292409 |
225 | P>S | No |
ClinGen Ensembl |
|
|
CA2499895 rs565253232 |
229 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775104734 CA2499894 |
229 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA353688200 rs1276815123 |
231 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA353688214 rs1221500187 |
231 | G>R | No |
ClinGen gnomAD |
|
|
rs751906553 CA353688192 |
232 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771331101 CA78292185 |
233 | N>S | No |
ClinGen gnomAD |
|
|
CA2499877 rs373089931 |
234 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2499876 rs763509976 |
236 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA353688166 rs1375692126 |
236 | Q>R | No |
ClinGen TOPMed |
|
|
CA2499875 rs764812244 |
238 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA353688151 rs1351821396 |
238 | M>R | No |
ClinGen TOPMed |
|
|
rs868766244 CA353688142 |
240 | I>L | No |
ClinGen gnomAD |
|
|
CA78292184 rs868766244 |
240 | I>V | No |
ClinGen gnomAD |
|
|
rs1174289864 CA353688133 |
241 | M>T | No |
ClinGen gnomAD |
|
|
CA353688107 rs1312119315 |
244 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2499873 rs776330788 |
248 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA353688076 rs1208713674 |
249 | F>L | No |
ClinGen TOPMed |
|
|
CA353688073 rs1379253954 |
249 | F>S | No |
ClinGen gnomAD |
|
|
CA353688032 rs1446261044 |
255 | S>N | No |
ClinGen gnomAD |
|
|
rs1235930247 CA353688007 |
258 | A>V | No |
ClinGen TOPMed |
|
|
CA2499871 rs760519359 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778627671 CA2499870 |
260 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs375025896 CA2499855 |
263 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs977497282 CA78291841 |
263 | Y>N | No |
ClinGen Ensembl |
|
|
CA2499854 rs754525424 |
264 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1300268316 CA353687574 |
264 | G>R | No |
ClinGen gnomAD |
|
|
rs17856389 CA2499853 |
265 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353687566 rs1255622443 |
265 | T>I | No |
ClinGen Ensembl |
|
|
rs17856389 CA78291840 VAR_034747 |
265 | T>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA353687562 rs1450426870 |
266 | P>H | No |
ClinGen gnomAD |
|
|
rs1313249669 CA353687563 |
266 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353687559 rs1406177276 |
267 | E>K | No |
ClinGen TOPMed |
|
|
rs1409315848 CA353687543 |
269 | L>I | No |
ClinGen gnomAD |
|
|
rs559653237 CA353687537 |
270 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559653237 CA2499850 |
270 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767267597 CA2499849 |
270 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181415335 CA353687512 |
274 | D>H | No |
ClinGen gnomAD |
|
|
CA2499847 rs532620292 |
276 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA78291838 rs917248428 |
279 | M>I | No |
ClinGen gnomAD |
|
|
rs745992554 CA2499845 |
282 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA78291836 rs116899644 |
287 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182605073 CA2499842 |
291 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1230313319 CA353687383 |
293 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758820572 CA2499840 |
297 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs369149857 CA2499839 |
298 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779475367 CA2499838 |
299 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189654498 CA353687326 |
302 | M>K | No |
ClinGen TOPMed |
|
|
CA2499837 rs755396114 |
302 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs753409844 CA2499836 |
305 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353687288 rs1429427803 |
307 | D>E | No |
ClinGen TOPMed |
|
|
CA78291835 rs878918615 |
307 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1198816837 CA353687285 |
308 | S>T | No |
ClinGen gnomAD |
|
|
rs1414015038 CA353687274 |
309 | C>W | No |
ClinGen gnomAD |
|
|
CA2499834 rs755801874 |
309 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353687268 rs1157520503 |
310 | Y>F | No |
ClinGen gnomAD |
|
|
CA2499833 rs750070108 |
316 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1253319926 CA353687222 |
317 | G>E | No |
ClinGen gnomAD |
|
|
rs767100121 CA2499832 |
319 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499831 rs761603906 |
320 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1224164348 CA353687197 |
321 | L>F | No |
ClinGen gnomAD |
|
|
COSM1425541 CA2499829 COSM1425540 rs764115648 |
324 | S>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1364362668 CA353687143 |
328 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 329 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762781855 CA2499827 |
329 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA353685967 rs1390314929 |
332 | W>L | No |
ClinGen gnomAD |
|
|
CA353685954 rs2172397 |
334 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353685955 rs2172397 |
334 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2172397 CA2499809 VAR_034748 |
334 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA353685932 rs765204887 |
337 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2499808 rs765204887 |
337 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760838815 CA2499807 |
340 | S>* | No |
ClinGen ExAC |
|
|
CA353685917 rs1576162530 |
340 | S>P | No |
ClinGen Ensembl |
|
|
CA353685912 rs1434243429 |
341 | N>D | No |
ClinGen gnomAD |
|
|
CA353685908 rs1419330860 |
341 | N>S | No |
ClinGen gnomAD |
|
|
CA353685904 rs1186989816 |
342 | I>L | No |
ClinGen gnomAD |
|
|
CA353685903 rs1186989816 |
342 | I>V | No |
ClinGen gnomAD |
|
|
rs773381709 CA2499806 |
344 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1248821695 CA353685879 |
345 | W>* | No |
ClinGen gnomAD |
|
|
CA353685850 rs1559656079 |
349 | Y>H | No |
ClinGen Ensembl |
|
|
rs532375434 CA2499804 |
350 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1048733 COSM1048732 rs375347840 CA2499803 |
350 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2499802 rs768896595 |
351 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2499801 rs749862579 |
352 | D>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1425538 CA2499800 COSM1425539 rs780431086 |
355 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1191005567 CA353685802 |
356 | F>S | No |
ClinGen TOPMed |
|
|
rs770247431 CA2499799 |
358 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353685783 rs1376411061 |
359 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745405800 CA2499798 |
360 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1351314809 COSM1425537 CA353685757 COSM1425536 |
363 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs965176553 CA78286447 |
363 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353685750 rs1432064387 |
364 | Y>C | No |
ClinGen gnomAD |
|
|
rs1391151000 CA353685742 |
365 | H>R | No |
ClinGen gnomAD |
|
|
CA2499795 rs751171978 |
366 | H>Q | No |
ClinGen ExAC |
|
|
CA2499779 rs775786214 |
370 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353685690 rs1240721262 |
371 | Q>P | No |
ClinGen Ensembl |
|
|
rs1353842056 CA353685686 |
372 | G>S | No |
ClinGen gnomAD |
|
|
CA2499777 rs746347027 |
372 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM731518 CA2499776 rs776192396 COSM731517 |
374 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1327942137 CA353685663 |
375 | G>V | No |
ClinGen gnomAD |
|
|
rs1414834052 CA353685645 |
378 | S>G | No |
ClinGen gnomAD |
|
|
rs938955105 CA78286144 |
378 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353685642 COSM1048731 COSM1048730 rs938955105 |
378 | S>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 379 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353685634 rs1351580140 |
379 | E>D | No |
ClinGen gnomAD |
|
|
CA353685618 rs1385414901 |
381 | F>L | No |
ClinGen gnomAD |
|
|
rs982989468 CA78286143 |
381 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353685617 rs746473533 CA2499774 |
382 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777291512 CA78286142 |
383 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777291512 CA353685610 |
383 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499773 rs777291512 |
383 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169375576 CA353685592 |
386 | D>G | No |
ClinGen TOPMed |
|
|
rs369878746 CA78286140 |
386 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs548693970 CA2499771 |
389 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1212545652 CA353685568 |
389 | A>V | No |
ClinGen gnomAD |
|
|
CA2499770 rs199821084 |
390 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA78286139 rs199821084 |
390 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353685562 rs1197937169 |
391 | T>A | No |
ClinGen gnomAD |
|
|
CA353685559 rs1449691051 |
391 | T>I | No |
ClinGen gnomAD |
|
|
rs1329193329 CA911015727 |
392 | Y>* | No |
ClinGen TOPMed |
|
|
CA78286138 rs981712852 |
393 | L>V | No |
ClinGen TOPMed |
|
|
CA353685533 rs1269189934 |
395 | L>V | No |
ClinGen gnomAD |
|
|
rs755004170 CA2499769 |
398 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2499768 rs753820611 |
399 | L>W | No |
ClinGen ExAC |
|
|
rs767762891 CA2499767 |
401 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA353685491 rs767762891 |
401 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2499765 rs751619568 |
402 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353685480 rs1231681770 |
403 | L>P | No |
ClinGen gnomAD |
|
|
rs1434653319 CA353685463 |
406 | D>H | No |
ClinGen gnomAD |
|
|
rs775874322 CA2499762 |
407 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1023763804 CA78286135 |
408 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781638215 CA78286134 |
409 | T>A | No |
ClinGen Ensembl |
|
|
rs1171989435 CA353685442 |
409 | T>I | No |
ClinGen gnomAD |
|
|
rs771405370 CA2499758 |
410 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs771405370 CA353685438 |
410 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2499759 rs777139741 |
410 | I>V | No |
ClinGen ExAC |
|
|
CA2499757 rs746527832 |
412 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs752711257 CA2499728 |
413 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353685410 rs752711257 |
413 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355840021 CA353685401 |
414 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779141550 CA2499727 |
414 | V>I | No |
ClinGen ExAC |
|
|
rs766732933 CA2499723 |
415 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs766732933 CA353685395 |
415 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2499722 rs552046313 |
421 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767854057 CA2499720 |
423 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2499721 rs750926041 |
423 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773950053 CA2499718 |
424 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405930755 CA353685334 |
425 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1277910212 CA353685327 |
426 | Q>H | No |
ClinGen TOPMed |
|
|
rs756129254 CA78285662 |
428 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369808173 CA353685317 |
428 | G>W | No |
ClinGen TOPMed |
|
|
CA353685313 rs745594101 |
429 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372232273 CA2499715 |
429 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2499713 rs745594101 |
429 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182160623 CA353685309 |
430 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA353685286 rs1482323737 |
433 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1482323737 CA353685287 |
433 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2499711 rs770819412 |
434 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288041902 CA353685267 |
437 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353685255 rs1230218177 |
438 | A>V | No |
ClinGen gnomAD |
|
|
CA353685252 rs1357214851 |
439 | I>V | No |
ClinGen gnomAD |
|
|
CA2499709 rs778936934 |
445 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA353685178 rs1576157751 |
448 | K>Q | No |
ClinGen Ensembl |
|
|
rs1553683560 CA353685170 RCV000522175 |
449 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1269906507 CA353685163 |
450 | F>L | No |
ClinGen TOPMed |
|
|
RCV000998106 rs1160545323 CA353685102 |
457 | M>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs746293580 CA2499687 |
457 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752100789 CA2499684 |
459 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546716789 CA78285158 |
461 | V>A | No |
ClinGen Ensembl |
|
|
CA353685073 rs1193227932 |
462 | Y>N | No |
ClinGen gnomAD |
|
|
CA2499683 rs200580762 |
463 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs575450709 CA2499679 |
466 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353685042 rs1268834905 |
467 | R>W | No |
ClinGen gnomAD |
|
|
CA2499678 rs776526697 |
468 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766154729 CA2499677 |
468 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376872271 CA2499675 |
470 | L>R | No |
ClinGen ExAC |
|
|
rs771929305 CA2499674 |
471 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs749416254 CA2499673 |
472 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2499672 rs376106795 |
473 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770095008 CA2499671 |
474 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353684977 rs1362698192 |
477 | A>S | No |
ClinGen TOPMed |
|
|
rs746073901 CA2499670 |
477 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178730469 CA353684962 |
479 | S>N | No |
ClinGen gnomAD |
|
|
rs1435772538 CA353684958 |
480 | H>N | No |
ClinGen gnomAD |
|
|
CA353684949 rs371153239 |
481 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371153239 CA2499666 |
481 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431658640 CA353684908 |
485 | V>I | No |
ClinGen TOPMed |
|
|
CA2499642 rs778264013 |
489 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353684852 rs1325935775 |
494 | L>M | No |
ClinGen TOPMed |
|
|
rs1293221510 CA353684843 |
495 | M>L | No |
ClinGen gnomAD |
|
|
CA353684841 rs1456579860 |
495 | M>T | No |
ClinGen gnomAD |
|
|
rs201758548 CA353684821 |
498 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353684807 rs1475508518 RCV000675505 |
499 | M>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA353684800 rs1411088422 |
500 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA78284841 rs1028125750 |
503 | M>I | No |
ClinGen TOPMed |
|
|
rs753275619 CA2499636 |
503 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs997170530 CA78284840 |
504 | S>N | No |
ClinGen TOPMed |
|
|
CA78284839 rs2228389 |
507 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200544679 CA2499633 |
508 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs532413776 CA2499632 |
509 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2499630 rs375013715 |
510 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2499631 rs751466558 |
510 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2499628 rs776806910 |
512 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA78284838 rs886545962 |
513 | I>V | No |
ClinGen TOPMed |
|
|
rs1336793319 CA353684718 |
514 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 514 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369943617 CA353684703 |
517 | I>V | No |
ClinGen gnomAD |
|
|
rs773775991 CA2499627 |
521 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA2499626 rs199604848 |
521 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748484690 CA2499625 |
522 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499624 rs377162168 |
523 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368248959 CA2499622 |
526 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745507588 CA2499621 |
527 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780840389 CA2499620 |
527 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353684631 rs1559650602 |
528 | H>L | No |
ClinGen Ensembl |
|
|
rs751331135 CA2499618 |
531 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319283898 CA353684568 |
538 | F>V | No |
ClinGen TOPMed |
|
|
CA353684551 rs1168126093 |
540 | G>S | No |
ClinGen gnomAD |
|
|
CA353686663 rs1559637866 |
545 | H>Y | No |
ClinGen Ensembl |
|
|
CA2499599 rs564155033 |
546 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA78280352 rs1056584942 |
549 | L>* | No |
ClinGen Ensembl |
|
| TCGA novel | 551 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 553 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758472321 CA2499597 |
554 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA78280350 rs937683680 |
556 | N>D | No |
ClinGen TOPMed |
|
|
rs937683680 CA78280349 |
556 | N>Y | No |
ClinGen TOPMed |
|
|
COSM1186345 rs756270678 CA2499594 COSM1186346 |
558 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765212625 CA2499595 |
558 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770040230 CA78280348 |
560 | Y>N | No |
ClinGen Ensembl |
|
|
CA2499593 rs750478545 |
562 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA353686536 rs1313202468 |
563 | A>V | No |
ClinGen gnomAD |
|
|
CA2499592 rs767657413 |
564 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499590 rs774619760 |
565 | R>Q | Variant assessed as Somatic; 4.71e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1346550496 CA353686506 |
568 | H>R | No |
ClinGen TOPMed |
|
|
rs941646149 CA78280346 |
571 | D>V | No |
ClinGen Ensembl |
|
|
CA2499586 rs770244970 |
572 | D>G | No |
ClinGen ExAC |
|
|
rs775980435 CA2499587 |
572 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776181092 CA2499584 |
573 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776181092 CA353686475 |
573 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 575 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2499582 rs746665543 |
575 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs183019204 CA2499581 |
576 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2499580 rs772010489 |
576 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747888730 CA2499579 |
583 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA353686396 rs1553680309 |
584 | D>E | No |
ClinGen Ensembl |
|
|
CA2499576 rs779028093 |
585 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1479050216 CA353686393 |
585 | R>K | No |
ClinGen TOPMed |
|
|
rs964120096 CA78280344 |
586 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1409032011 COSM420292 COSM420293 CA353686374 |
587 | M>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA353686379 rs1395007882 |
587 | M>K | No |
ClinGen TOPMed |
|
|
CA2499575 rs572708424 |
587 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2499574 rs750518751 |
589 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 589 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 589 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2499573 rs781301815 |
589 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs137852890 CA2499572 |
592 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353686331 rs1390426385 |
594 | Y>H | No |
ClinGen TOPMed |
|
|
CA353686325 rs1332265455 |
595 | G>S | No |
ClinGen TOPMed |
|
|
rs1233327045 CA353686307 |
597 | L>P | No |
ClinGen TOPMed |
|
|
CA2499568 rs763338250 |
598 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353686293 rs552922259 |
600 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552922259 CA2499567 |
600 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA78280340 rs1021263982 |
601 | Q>* | No |
ClinGen gnomAD |
|
|
CA353686288 rs1021263982 |
601 | Q>K | No |
ClinGen gnomAD |
|
|
rs1215596601 CA353686287 |
601 | Q>R | No |
ClinGen gnomAD |
|
|
CA78280197 rs766823392 |
602 | A>P | No |
ClinGen Ensembl |
|
|
rs760015364 CA353686257 CA353686256 |
604 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499545 rs574174814 |
605 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2499544 rs766732634 |
608 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs772802187 CA2499543 |
609 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499541 rs554778738 |
610 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761527921 CA2499540 |
611 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA353686201 rs1171593651 |
612 | K>T | No |
ClinGen TOPMed |
|
|
rs748968312 CA2499537 |
615 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768485124 CA2499538 |
615 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353686172 rs572672227 CA2499536 |
616 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353686153 rs1044367200 |
619 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA78280195 rs1044367200 |
619 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1044367200 CA353686152 |
619 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353686139 rs1372434908 |
622 | L>F | No |
ClinGen TOPMed |
|
|
rs1233982193 CA353686124 |
624 | I>V | No |
ClinGen TOPMed |
|
|
rs1216380623 CA353686088 |
629 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353686087 rs1216380623 |
629 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758683393 CA2499533 |
630 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1194905065 CA353686081 |
630 | S>N | No |
ClinGen gnomAD |
|
|
rs373557947 CA353686069 |
631 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236060693 CA353686062 |
632 | S>R | No |
ClinGen gnomAD |
|
|
rs1348094767 CA353686056 |
633 | Y>C | No |
ClinGen gnomAD |
|
|
rs538664529 CA2499531 |
634 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2499530 rs755378768 |
634 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766935302 CA78280194 |
637 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499527 rs749994943 |
637 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2499526 rs749994943 |
637 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353686016 rs1374029130 |
640 | T>K | No |
ClinGen gnomAD |
|
|
CA2499525 rs767133103 |
641 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756753229 CA2499509 CA2499508 |
645 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA78276116 rs1039372291 |
647 | K>N | No |
ClinGen Ensembl |
|
|
CA2499507 rs750953059 |
647 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1251402019 CA353684518 |
648 | I>T | No |
ClinGen gnomAD |
|
|
CA2499506 rs768079971 |
648 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA78276115 rs938729667 |
651 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756859313 CA2499505 |
653 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2499504 rs527789602 |
654 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377105672 CA353684476 |
655 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227807234 CA353684479 |
655 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2499503 rs377105672 |
655 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775419147 CA2499501 |
657 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 658 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2499499 rs759264012 |
660 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372608786 CA2499498 |
660 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2499497 rs770819395 |
661 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs780527478 CA2499493 |
664 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2499494 rs368784983 |
664 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746169721 CA2499490 |
666 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 667 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757815784 CA2499489 |
668 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs780374709 | 671 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353684362 rs571448518 |
672 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM197107 rs758188572 CA2499482 |
679 | R>H | Variant assessed as Somatic; 0.0001881 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2499483 rs758188572 |
679 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353684317 rs202158511 |
679 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA78276114 rs369831534 |
681 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1303031347 CA353684291 |
683 | L>P | No |
ClinGen gnomAD |
|
|
rs778562650 CA2499464 |
685 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2499462 rs753675916 |
686 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs754607405 CA2499463 |
686 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA78275189 rs868515608 |
687 | I>V | No |
ClinGen Ensembl |
|
|
CA353686797 rs1173853844 |
689 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1190877347 CA353686796 |
690 | R>G | No |
ClinGen TOPMed |
|
|
rs1472987265 CA353686787 |
691 | V>E | No |
ClinGen TOPMed |
|
|
CA78275187 rs1026316402 |
691 | V>M | No |
ClinGen gnomAD |
|
|
rs1209123501 CA353686770 |
694 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA353686772 rs1257283055 |
694 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767422011 CA2499458 |
697 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1195429833 CA353686741 |
698 | V>A | No |
ClinGen gnomAD |
|
|
CA353686738 rs1337608522 |
699 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2499457 rs552335025 |
701 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400238963 CA353686711 |
703 | N>G | No |
ClinGen TOPMed |
3 associated diseases with Q04446
[MIM: 232500]: Glycogen storage disease 4 (GSD4)
A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. {ECO:0000269|PubMed:10545044, ECO:0000269|PubMed:15452297, ECO:0000269|PubMed:8613547}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 263570]: Polyglucosan body neuropathy, adult form (APBN)
A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. {ECO:0000269|PubMed:10762170}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. {ECO:0000269|PubMed:10545044, ECO:0000269|PubMed:15452297, ECO:0000269|PubMed:8613547}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. {ECO:0000269|PubMed:10762170}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.18 | Hexosyltransferases |
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1,4-alpha-glucan branching enzyme activity | Catalysis of the transfer of a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxyl group in a similar glucan chain. |
| 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis) | Catalysis of the reaction: a glucosylated glycogenin = a glycogen. |
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| cation binding | Binding to a cation, a charged atom or group of atoms with a net positive charge. |
| hydrolase activity, hydrolyzing O-glycosyl compounds | Catalysis of the hydrolysis of any O-glycosyl bond. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| generation of precursor metabolites and energy | The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. |
| glycogen biosynthetic process | The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. |
| glycogen metabolic process | The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPMTPAAR | PEDYEAALNA | ALADVPELAR | LLEIDPYLKP | YAVDFQRRYK | QFSQILKNIG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ENEGGIDKFS | RGYESFGVHR | CADGGLYCKE | WAPGAEGVFL | TGDFNGWNPF | SYPYKKLDYG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KWELYIPPKQ | NKSVLVPHGS | KLKVVITSKS | GEILYRISPW | AKYVVREGDN | VNYDWIHWDP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EHSYEFKHSR | PKKPRSLRIY | ESHVGISSHE | GKVASYKHFT | CNVLPRIKGL | GYNCIQLMAI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MEHAYYASFG | YQITSFFAAS | SRYGTPEELQ | ELVDTAHSMG | IIVLLDVVHS | HASKNSADGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NMFDGTDSCY | FHSGPRGTHD | LWDSRLFAYS | SWEILRFLLS | NIRWWLEEYR | FDGFRFDGVT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SMLYHHHGVG | QGFSGDYSEY | FGLQVDEDAL | TYLMLANHLV | HTLCPDSITI | AEDVSGMPAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSPISQGGGG | FDYRLAMAIP | DKWIQLLKEF | KDEDWNMGDI | VYTLTNRRYL | EKCIAYAESH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DQALVGDKSL | AFWLMDAEMY | TNMSVLTPFT | PVIDRGIQLH | KMIRLITHGL | GGEGYLNFMG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NEFGHPEWLD | FPRKGNNESY | HYARRQFHLT | DDDLLRYKFL | NNFDRDMNRL | EERYGWLAAP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QAYVSEKHEG | NKIIAFERAG | LLFIFNFHPS | KSYTDYRVGT | ALPGKFKIVL | DSDAAEYGGH |
| 670 | 680 | 690 | 700 | ||
| QRLDHSTDFF | SEAFEHNGRP | YSLLVYIPSR | VALILQNVDL | PN |