Q3T906
PR
Gene name |
GNPTAB (GNPTA, KIAA1208) |
Protein name |
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
Names |
GlcNAc-1-phosphotransferase subunits alpha/beta, Stealth protein GNPTAB, UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79158 |
EC number |
2.7.8.17: Transferases for other substituted phosphate groups |
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 Q3T906
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2N6D | NMR | - | A | 135-305 | PDB |
| 7S05 | EM | 310 A | A/B | 44-1209 | PDB |
| 7S06 | EM | 330 A | A/B | 44-1209 | PDB |
| AF-Q3T906-F1 | Predicted | AlphaFoldDB |
1129 variants for Q3T906
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000031965 RCV000669013 RCV000002903 rs34159654 CA252414 VAR_027509 |
4 | K>Q | Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA386487070 RCV000845125 rs1594269995 |
8 | R>G | Pseudo-Hurler polydystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000669442 CA386487032 rs1555277081 |
13 | C>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032348 VAR_073124 rs281864947 CA343407 |
15 | S>Y | Pseudo-Hurler polydystrophy MLIIIA; unknown pathological significance; no effect on protein abundance; decreased protein cleavage into alpha and beta subunits; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001112932 rs141329633 CA6747018 RCV001112931 RCV000967688 |
24 | F>V | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000669032 rs1408113895 RCV000983985 RCV000590274 |
34 | A>missing | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555277061 RCV000626103 CA386486903 |
34 | A>P | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281864948 RCV000032292 |
41 | V>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1322055 CA343345 RCV000032296 RCV000673315 rs78347057 RCV000760392 |
46 | R>* | ovary Mucolipidosis type II [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001112930 RCV001727792 RCV001110936 RCV001081885 CA6746986 rs117566084 RCV000675297 |
46 | R>Q | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814144 rs794727302 RCV000175943 |
53 | F>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864949 RCV000032302 |
55 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864950 RCV000032303 CA343355 |
56 | Y>* | Pseudo-Hurler polydystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs281864951 RCV000032304 |
58 | D>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264361 rs1869312458 |
62 | G>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6746981 RCV000322830 RCV002522218 RCV000288837 rs145725972 |
68 | R>Q | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003120882 rs531738916 RCV002290867 RCV003097737 CA6746982 |
68 | R>W | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6746953 rs755156585 RCV001830974 RCV001322462 |
72 | P>L | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_079713 | 76 | D>G | MLII; loss of Golgi localization; defects in protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [UniProt] | Yes | UniProt |
|
RCV002468983 rs281864952 RCV000032315 |
78 | V>missing | Pseudo-Hurler polydystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000735199 rs1566087497 CA386305525 |
79 | Y>D | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281864953 CA343374 RCV000032318 RCV002514130 VAR_070831 |
81 | W>L | Pseudo-Hurler polydystrophy Mucolipidosis type II MLII and MLIIIA; no effect on protein abundance; decreased localization to the Golgi; defects in protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs752519391 RCV000813645 CA6746946 RCV001274643 |
91 | K>R | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1868886361 RCV001264360 |
99 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137852896 RCV001380992 CA340007 RCV000002890 |
104 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA6746940 RCV001212095 rs770176191 |
108 | R>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000675294 RCV001835903 CA6746912 RCV000664677 rs140656599 |
113 | K>E | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000032339 RCV001255581 RCV000726917 RCV000674596 rs281864954 |
115 | T>missing | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000178995 RCV001386037 rs774506925 CA275310 |
126 | L>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000449508 rs1555271865 |
127 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001110170 RCV001110171 rs1868637420 |
129 | L>S | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032346 RCV000673915 rs281864955 RCV003137551 |
148 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279856 RCV001760321 rs200015550 RCV001871582 CA6746877 |
151 | L>R | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000277271 rs886048853 CA10640664 RCV002520782 RCV000330029 |
153 | D>N | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001110169 RCV002519075 RCV001114209 rs143907628 RCV000765037 CA6746871 RCV000333955 |
167 | I>N | Pseudo-Hurler polydystrophy Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6746869 RCV001114208 RCV001114207 rs746860631 RCV002480484 |
171 | A>V | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs281864957 RCV000032349 |
173 | P>missing | Pseudo-Hurler polydystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756660023 RCV001264359 |
181 | S>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032362 VAR_073125 CA356554 rs281864958 |
182 | V>D | Mucolipidosis type II MLII; unknown pathological significance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_053545 CA343083 RCV000632919 rs34946266 RCV001729354 RCV000031988 |
190 | D>V | Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs751953529 CA6746857 RCV000449605 |
191 | V>I | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA242469752 RCV001112856 rs935456185 RCV001339111 RCV001114206 |
193 | D>G | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1953327561 RCV001264358 |
200 | K>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs529994474 CA6746829 RCV001112855 RCV002558126 RCV001112854 |
203 | S>R | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000032362 rs281864959 CA356552 VAR_073126 |
205 | Q>P | Mucolipidosis type II MLII; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000790767 rs281865024 RCV000031989 RCV000665595 RCV000780318 |
206 | T>missing | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864961 RCV000032351 |
209 | R>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264032 rs1953326710 |
212 | L>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667811 rs281864963 RCV000032353 |
217 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299033 rs1953322163 |
218 | V>A | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953321606 RCV001264031 |
227 | L>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10631894 RCV000404789 RCV000299752 rs886048852 |
235 | P>A | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1953321100 RCV001264030 |
238 | K>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398124400 RCV001388068 RCV000179972 |
244 | K>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780320 RCV000032354 rs281864964 RCV000790667 RCV001388607 |
250 | N>missing | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953320426 RCV001260378 |
251 | L>missing | Mucolipidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032356 rs281864965 |
251 | L>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566078120 RCV000778136 CA386303769 |
259 | Q>* | GNPTAB-Related Disorders Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001279482 CA6746783 RCV001212226 rs779150416 |
265 | S>G | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555270428 RCV000672455 |
268 | L>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953167968 RCV001110863 RCV001110864 |
269 | L>V | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6746777 rs781186859 RCV001279481 |
275 | K>E | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs35878526 RCV000031991 CA343085 RCV001826527 RCV001214189 |
278 | Q>* | Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_079714 | 278 | Q>del | MLIIIA [UniProt] | Yes | UniProt |
|
RCV000031992 rs34517004 RCV001852636 |
284 | T>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864966 RCV000032357 |
287 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000304525 rs753544044 RCV000342981 CA6746773 |
288 | M>T | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001110862 CA6746772 RCV001110861 rs138289260 |
289 | T>S | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001871569 rs775153910 RCV001279480 CA6746770 |
291 | D>G | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1953165554 RCV001264029 |
294 | E>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054288 rs1953165224 |
298 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864967 RCV000032358 |
305 | D>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864968 CA343418 RCV000032359 |
314 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853824 RCV000058935 CA284843 RCV002514295 |
321 | S>G | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002493495 CA6746742 rs779983477 RCV001279478 |
327 | E>K | Mucolipidosis type II Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001232738 rs1953155498 |
331 | Y>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264028 rs1953155445 |
331 | Y>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032282 RCV000180686 CA223747 rs281864969 RCV001826535 RCV000668032 COSM934052 |
334 | R>* | Pseudo-Hurler polydystrophy Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000032284 RCV001246458 VAR_073127 rs281864970 CA343332 |
334 | R>L | Mucolipidosis type II MLII; no effect on protein abundance; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000032283 CA343331 RCV001852647 VAR_073128 rs281864970 |
334 | R>Q | Pseudo-Hurler polydystrophy Mucolipidosis type II MLIIIA; no effect on protein abundance; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000449568 rs1060499679 |
341 | P>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748809942 RCV000673068 |
341 | P>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6746733 rs370033001 RCV001329951 |
341 | P>S | Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP |
|
rs140518816 CA6746729 RCV001279477 RCV002537852 |
343 | V>F | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001835483 CA386303181 RCV001305666 rs1480305030 |
344 | R>W | Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000665206 rs1555270321 |
345 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs7958709 RCV000344025 RCV001079378 VAR_027510 RCV000250304 CA343333 RCV000032285 RCV000437039 |
348 | I>L | Pseudo-Hurler polydystrophy Mucolipidosis type II MLII; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200646278 RCV000669478 RCV000780317 RCV000032286 CA343335 |
364 | R>* | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200784803 RCV001329952 |
364 | R>P | Pseudo-Hurler polydystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953152857 RCV001279476 |
370 | H>Q | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_062807 rs137852900 CA252415 RCV000002904 RCV000002905 |
374 | F>L | Pseudo-Hurler polydystrophy Mucolipidosis type II MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA223750 RCV000349727 RCV000032287 RCV000790711 RCV000983986 RCV001038168 rs397507447 |
375 | R>* | Pseudo-Hurler polydystrophy GNPTAB-Related Disorders Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000817821 CA6746693 RCV001825646 rs745438711 |
375 | R>Q | Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA239360 rs112543062 RCV000449633 RCV000173897 |
382 | T>P | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_079715 | 385 | S>L | MLII; no loss of Golgi localization; no defects in protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [UniProt] | Yes | UniProt |
|
RCV000032289 rs281864971 |
399 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865026 VAR_062808 RCV000031967 CA343061 RCV000820177 RCV001831620 |
399 | S>F | Pseudo-Hurler polydystrophy Mucolipidosis type II MLIIIA; no effect on protein abundance; loss of localization to the Golgi; defects in protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000032290 rs281864972 |
403 | I>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_062809 RCV002247409 rs281864973 RCV001852648 RCV000032291 CA343340 |
403 | I>T | Pseudo-Hurler polydystrophy Mucolipidosis type II MLIIIA; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA340006 RCV000002889 VAR_025416 rs137852895 |
407 | D>A | Pseudo-Hurler polydystrophy MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA386302457 rs1201536920 RCV001047505 |
416 | W>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000669940 rs145281185 CA6746673 |
428 | K>R | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA223752 RCV002513847 rs398124397 RCV000174163 |
433 | W>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001037653 CA343343 VAR_062810 rs281864975 RCV000032294 |
442 | C>Y | Pseudo-Hurler polydystrophy Mucolipidosis type II MLIIIA; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000032295 rs281864976 |
445 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6746648 rs137853822 VAR_073219 RCV000666169 RCV002271552 |
455 | A>S | Mucolipidosis type II rare variant; found in individuals suffering from stuttering; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs281864977 CA343347 RCV000032297 VAR_062811 |
461 | C>G | Mucolipidosis type II MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000032298 rs281864978 |
462 | D>missing | Pseudo-Hurler polydystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555270066 CA658822544 RCV000669762 |
463 | W>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001193441 rs397507448 RCV003153314 RCV000666707 RCV000032299 |
467 | D>missing | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000034154 rs281864979 VAR_073129 CA344270 |
468 | C>S | Mucolipidosis type II MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001114131 rs1224060861 RCV001114132 |
476 | R>P | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001114129 RCV001114130 RCV000381606 rs145586576 RCV000765036 CA6746610 RCV002519076 |
477 | Y>D | Pseudo-Hurler polydystrophy Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs149718548 RCV001112784 CA6746607 RCV001114128 RCV000968156 |
478 | I>T | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001264027 rs1953090856 |
498 | G>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063570 rs1479370932 |
504 | Y>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032300 RCV000762881 CA343350 rs281864980 RCV000626961 VAR_070832 |
505 | C>Y | Pseudo-Hurler polydystrophy Mucolipidosis type II Legg-Calve-Perthes disease MLIIIA; unknown pathological significance; decreased localization to the Golgi; decreased protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; reduces protein abundance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000032301 CA343352 RCV001380786 rs281864981 |
507 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1953089808 RCV001175112 |
514 | L>F | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835011 CA6746590 rs749452608 RCV000632920 |
524 | N>D | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs36007394 RCV000031968 RCV000669422 |
528 | C>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750240374 CA6746584 RCV000449579 |
534 | D>N | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs281865027 RCV000002898 |
542 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953073126 RCV001264026 |
545 | K>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279473 rs1953072471 |
552 | Q>R | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001280810 rs1953072149 |
555 | Y>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555269798 RCV000665654 |
557 | I>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6746544 RCV001835080 rs142025274 RCV000666952 |
557 | I>L | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1594214799 RCV001004591 |
568 | F>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_074206 | 575 | G>R | MLIIIA; significantly reduces protein cleavage into alpha and beta subunits; reduces protein abundance; significantly decreased localization to the Golgi; significantly reduces UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase [UniProt] | Yes | UniProt |
|
RCV000031969 rs34924076 |
581 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001110796 rs201829728 RCV001112779 CA6746536 RCV000906898 |
584 | P>T | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001778671 RCV000032305 COSM430173 CA343358 RCV000670808 rs281864982 |
587 | R>* | Mucolipidosis Mucolipidosis type II large_intestine Variant assessed as Somatic; impact. breast [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs143788461 VAR_073131 CA386299869 RCV000666195 |
587 | R>P | Mucolipidosis type II MLIIIA; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV002228331 RCV002514535 RCV001110795 rs149390820 CA267599 VAR_073132 RCV000087103 |
592 | A>T | Pseudo-Hurler polydystrophy Mucolipidosis type II found in a patient with mucolipidosis type II or III; unknown pathological significance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001773583 CA6746530 RCV001279472 rs188192351 RCV001315170 |
593 | N>I | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1953069110 RCV001264025 |
594 | K>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386299780 RCV001315638 RCV001835560 rs1406478775 |
601 | I>V | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138811990 RCV001110791 RCV002069786 RCV001110792 CA6746522 |
609 | T>N | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110790 CA6746516 RCV000675288 rs146476305 RCV002060831 RCV001110789 |
621 | N>S | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000673862 rs1555269734 CA386299524 |
625 | F>L | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000058934 rs137853823 VAR_073220 CA284841 RCV001276855 CA6746514 RCV001061204 |
625 | F>L | Mucolipidosis type II rare variant; found in individuals suffering from stuttering; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD UniProt |
|
RCV001263866 rs1953067028 |
628 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001276854 RCV002261185 RCV002533434 CA6746511 RCV000696182 rs374265672 |
629 | I>V | Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000669334 rs747789493 RCV000174596 |
636 | R>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062507 rs1441014377 RCV001274639 |
637 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000358882 RCV000261615 rs76889468 RCV000174595 RCV001550515 RCV001517713 CA201075 |
644 | T>I | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs386765812 VAR_074207 CA201077 |
644 | T>M | MLIIIA; reduces protein cleavage into alpha and beta subunits; reduces protein abundance; no effect on subcellular location in Golgi apparatus; mildly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA242456925 RCV000731944 RCV000665495 rs373662553 |
648 | G>D | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
COSM281424 RCV000665352 rs779572693 CA6746501 |
650 | E>K | Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001242723 rs1953064841 |
652 | L>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953064795 RCV001041929 |
653 | V>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032306 RCV000669447 RCV001814017 rs281864983 |
654 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279470 rs151209875 |
654 | S>C | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001844276 RCV002563955 CA6746499 RCV001279471 RCV001239746 rs151209875 |
654 | S>G | Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1429181351 RCV001329953 RCV000853306 RCV000623566 |
655 | P>missing | Pseudo-Hurler polydystrophy Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864984 RCV000032307 |
655 | P>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000672327 rs754722814 |
659 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000031970 CA343064 rs142172397 VAR_025417 |
662 | A>G | Pseudo-Hurler polydystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000669409 rs142172397 CA242456834 |
662 | A>V | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs281864986 RCV000032309 |
667 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864985 CA343362 RCV000032308 |
667 | E>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA242456809 rs145408865 COSM107653 RCV002607068 |
671 | K>R | Mucolipidosis type II skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000031971 RCV003137549 RCV002513288 rs34901902 RCV000674766 |
685 | S>missing | Mucopolysaccharidosis, MPS-III-A Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953061755 RCV001235318 |
690 | Q>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262641 rs1953061652 |
691 | E>K | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1043530261 RCV001206575 |
692 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001346169 rs1383772676 RCV001831121 |
696 | P>L | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864987 RCV000032310 |
697 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6746476 RCV001248181 rs756585780 |
700 | I>T | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1953060930 RCV001263865 |
701 | S>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002526362 RCV001828455 CA6746472 rs376620571 RCV000442816 |
707 | A>T | Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001175115 rs1953060183 |
710 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001861433 rs374600127 RCV002521419 RCV001833504 CA6746467 RCV000414016 |
716 | L>F | Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6746465 RCV001279467 rs146460663 |
722 | D>H | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000031972 rs34161232 |
730 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000034155 rs281864988 |
730 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070833 RCV000032311 CA343366 rs281864989 |
732 | K>N | Mucolipidosis type II MLII; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1953059037 RCV001263864 |
733 | S>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032312 rs281864990 |
741 | M>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000348152 CA10636180 RCV000404679 rs886048851 |
742 | N>S | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032313 rs281864991 RCV001009075 |
750 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953058345 RCV001070758 |
751 | Q>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386298659 rs1566073911 RCV001263863 COSM1298829 |
751 | Q>* | Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II urinary_tract [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs281864992 RCV000671256 RCV000032314 |
758 | T>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219430 rs1953057183 |
770 | V>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000421294 RCV001114040 RCV001114039 CA6746445 RCV002059848 rs183435240 |
781 | V>M | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM161306 rs765924360 RCV001246676 RCV001279466 CA6746444 |
783 | E>K | NS Mucolipidosis type II [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_073133 RCV000087104 CA267601 rs144060383 |
785 | L>W | Pseudo-Hurler polydystrophy found in a patient with mucolipidosis type II or III; unknown pathological significance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000449502 rs1060499685 |
790 | F>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1310955639 RCV001040909 CA386298316 |
802 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000032316 rs281864993 |
808 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032317 rs281864994 |
810 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795765 rs1594213713 |
819 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231139 rs1953053436 |
833 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066926 RCV001276850 CA6746420 rs550940255 |
835 | P>L | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001219882 rs1953052904 |
839 | I>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865028 CA343068 RCV000031973 |
845 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs281864995 RCV000032319 |
849 | E>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032320 rs281864996 RCV000449538 |
850 | K>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281864996 RCV000449546 |
852 | I>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000031974 RCV000671157 rs281865029 |
859 | N>missing | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139411012 RCV000675287 RCV001081359 CA6746410 RCV001276849 |
861 | R>K | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs281864997 RCV000034156 |
865 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279464 CA242456168 rs920564230 |
868 | N>I | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001080495 RCV000153335 RCV000336504 CA180091 RCV000388722 RCV000223964 rs56212569 |
871 | G>S | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000449625 rs1060499681 |
872 | V>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000668275 rs752874974 |
873 | T>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953050858 RCV001279463 |
873 | T>I | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865030 RCV000031975 |
887 | S>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032321 rs281864998 CA343377 |
888 | Y>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555269488 RCV000449601 |
892 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779927550 RCV001263862 |
894 | W>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000002895 rs137852899 CA340014 |
894 | W>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281864999 RCV000667943 |
898 | K>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865000 RCV000032323 RCV001814018 RCV000673774 |
898 | K>missing | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032323 rs281864999 RCV001814018 RCV000673774 |
898 | K>missing | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175514 rs281864999 RCV001230245 RCV000032322 |
899 | Y>missing | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665916 rs774128798 |
904 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779351251 RCV000674866 |
910 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263861 rs1953000660 |
911 | K>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000671595 rs1277911354 |
916 | Y>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237401 rs757574720 |
919 | D>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952999818 RCV001263860 |
921 | K>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032325 CA343382 rs281865002 VAR_062812 |
926 | Q>P | Pseudo-Hurler polydystrophy MLIIIA; no effect on localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000032360 CA356545 VAR_073134 rs281865003 |
928 | K>R | Mucolipidosis type II MLII; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_074208 | 937 | Y>del | MLII; abnormal protein cleavage into alpha and beta subunits; no effect on protein abundance; significantly decreased localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase [UniProt] | Yes | UniProt |
|
RCV001852912 CA356543 RCV000032360 VAR_073135 rs138390866 |
955 | A>V | Mucolipidosis type II MLII; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP dbSNP |
|
VAR_073136 rs281865005 CA343384 RCV000032327 |
956 | H>R | Pseudo-Hurler polydystrophy MLIIIA; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs281865004 VAR_062813 CA343383 RCV000032326 RCV001852649 |
956 | H>Y | Pseudo-Hurler polydystrophy Mucolipidosis type II MLIIIA; no effect on protein abundance; no effect on localization to the Golgi [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs192687061 CA6746324 RCV000665710 RCV001731861 RCV002530663 |
967 | Q>R | Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6746323 RCV000880925 rs555336070 RCV000322774 RCV000376997 |
968 | E>D | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1952995212 RCV001263859 |
970 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865032 RCV000031977 |
974 | P>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952989955 RCV001175110 |
985 | V>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555269154 RCV000449586 |
986 | R>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002469150 rs769587233 RCV003221982 CA6746287 RCV000449553 VAR_070834 |
986 | R>C | Mucolipidosis Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II MLII; decreased protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003117804 rs776312538 CA6746285 RCV001175109 |
986 | R>H | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA386295968 RCV000790383 rs769587233 |
986 | R>S | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001293695 RCV001386177 rs1952989025 |
994 | A>missing | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952988642 RCV001175116 |
995 | F>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351060 rs1952988897 |
995 | F>S | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952988471 RCV001067360 |
997 | Y>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032328 CA343386 rs281865006 VAR_062814 |
1001 | L>P | Mucolipidosis type II MLII; no effect on protein abundance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1952987753 RCV001263574 |
1006 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001836339 rs1952987566 RCV001345385 |
1009 | N>T | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952987310 RCV001329954 |
1012 | Q>P | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA344273 RCV000034157 VAR_073137 rs281865007 RCV001852693 |
1018 | D>G | Mucolipidosis type II MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; decreased localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000032329 CA343387 rs281865008 |
1021 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001263573 rs1952986419 |
1028 | R>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343389 RCV000667295 RCV000032330 rs281865009 RCV002288528 RCV000780316 |
1031 | R>* | Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1594210760 RCV001860554 RCV001004590 |
1032 | T>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278688 rs1952985795 |
1036 | R>G | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001110710 rs201356176 CA242453832 RCV001110709 |
1039 | E>Q | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs281865033 RCV000031978 |
1049 | G>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1402805700 RCV001307505 CA386294928 RCV001835501 |
1050 | L>M | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA343391 rs281865010 RCV000032331 VAR_073138 |
1054 | L>V | Mucolipidosis type II MLII; unknown pathological significance; no effect on localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs137852898 CA340011 RCV000002893 |
1058 | S>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA386294777 rs143333669 RCV001278687 |
1061 | L>P | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000328682 CA6746235 rs755148701 RCV000271022 |
1065 | I>T | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000368145 RCV000311094 rs34083392 RCV000974742 CA6746234 |
1066 | T>M | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs281865011 RCV000032332 |
1078 | Y>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000031979 rs34256381 |
1079 | Y>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000031981 rs281865035 |
1085 | P>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1208433 CA10640655 rs765553769 RCV000298415 RCV000406064 |
1096 | P>S | Pseudo-Hurler polydystrophy Mucolipidosis type II large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA10636148 RCV000338142 RCV000280855 rs886048850 |
1102 | H>Q | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1952921914 RCV001175114 |
1103 | K>Q* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865013 RCV000032334 |
1104 | A>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775751653 CA6746198 RCV001833744 RCV001193440 |
1105 | Y>C | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000175232 rs797044663 RCV001052463 |
1109 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032335 rs281865014 |
1111 | Y>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079716 | 1111 | Y>del | MLII [UniProt] | Yes | UniProt |
|
RCV001278685 rs774443381 |
1122 | A>S | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865015 RCV000032361 |
1130 | V>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865016 RCV000032361 CA356548 |
1131 | S>F | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343397 RCV003137550 RCV001044478 rs142065232 RCV000983987 RCV000032337 |
1137 | L>* | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000672504 rs745600783 |
1139 | D>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235319 rs1952913803 |
1141 | R>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852650 rs281865017 RCV000032338 |
1143 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665575 rs281865018 RCV002509173 RCV000032340 RCV002513296 RCV001826536 |
1148 | V>missing | Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060499684 RCV000449595 |
1150 | L>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1594204203 CA386292777 RCV000988896 |
1152 | D>E | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281865019 VAR_062815 RCV000032341 CA343402 |
1153 | N>S | Pseudo-Hurler polydystrophy MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs281865038 RCV000002894 |
1158 | H>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032342 rs281865020 |
1162 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761393 rs1566067386 |
1163 | T>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555268297 RCV000672712 |
1166 | A>HKD | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000082192 rs34002892 RCV000623507 RCV000678389 RCV000002900 RCV000002899 RCV000380090 |
1168 | L>missing | GNPTAB-Related Disorders Pseudo-Hurler polydystrophy Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149859473 RCV001278684 CA6746132 RCV002541689 |
1172 | Y>F | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000032343 rs281865021 |
1175 | M>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16609423 rs1060499689 RCV000449550 |
1180 | S>F | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA386292354 rs1257678960 RCV001263572 |
1181 | Q>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000175480 RCV002222425 RCV001852150 rs781689303 |
1187 | E>missing | Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000723447 RCV000002891 RCV000664622 RCV001193438 RCV000002892 rs137852897 CA340009 |
1189 | R>* | Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000031985 rs281865039 |
1190 | N>missing | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000673576 rs1481471124 RCV001830458 CA386292209 |
1191 | R>C | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000449510 CA16609422 rs1060499688 |
1192 | F>S | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853825 RCV000058936 RCV001110621 RCV000082193 VAR_073221 CA149257 RCV001110620 RCV001084285 |
1200 | E>K | Pseudo-Hurler polydystrophy Mucolipidosis type II may be a risk factor for stuttering [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA386291852 RCV000674030 rs1555267839 |
1201 | W>* | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1952850511 RCV001175111 |
1201 | W>* | Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000670953 RCV000031986 RCV000032344 CA343081 rs35333334 RCV001193437 |
1205 | R>* | Pseudo-Hurler polydystrophy Mucolipidosis Mucolipidosis type II Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1952778845 RCV001293517 |
1221 | M>missing | Mucolipidosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_074209 | 1223 | T>del | MLIIIA; no effect on protein cleavage into alpha and beta subunits; no effect on protein abundance; no effect on subcellular location in cis-Golgi apparatus; slightly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [UniProt] | Yes | UniProt |
|
rs886048849 RCV000368344 RCV000332308 CA10631884 |
1231 | Q>H | Pseudo-Hurler polydystrophy Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002261186 RCV000696183 CA6746057 rs373314316 RCV002533435 RCV001274828 |
1234 | A>T | Mucolipidosis type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_027511 | 1236 | K>M | MLII; decreased protein abundance; no effect on localization to the Golgi; does not suppress protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [UniProt] | Yes | UniProt |
|
rs556318081 CA6746056 RCV000669787 |
1236 | K>R | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs150841760 RCV000298245 RCV000891973 CA6746055 RCV000403989 |
1237 | R>Q | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6746054 RCV001295309 rs774971931 |
1245 | I>L | Mucolipidosis type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs281865022 RCV000032345 RCV000087105 |
1248 | E>missing | Pseudo-Hurler polydystrophy Mucolipidosis type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6746051 rs778120023 RCV001109828 COSM934030 RCV001109829 |
1253 | R>Q | Pseudo-Hurler polydystrophy Variant assessed as Somatic; 0.0 impact. Mucolipidosis type II endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6747031 rs573282230 |
3 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1352631041 CA386487096 |
3 | F>S | No |
ClinGen gnomAD |
|
|
CA6747030 rs763356524 |
4 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6747029 rs750794129 |
5 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6747028 rs762120766 |
7 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs222504 CA6747027 |
9 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759524153 CA6747026 |
10 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1296697509 CA386487039 |
12 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6747025 rs774116160 |
12 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA386487041 rs1296697509 |
12 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 17 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | Y>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769506610 CA6747021 |
20 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747745281 CA6747020 |
21 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA386486977 rs1448327145 |
22 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386486978 rs1448327145 |
22 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6747017 rs747570832 |
26 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386486946 rs1438149223 |
27 | V>I | No |
ClinGen gnomAD |
|
|
CA386486936 rs1198649464 |
28 | V>A | No |
ClinGen gnomAD |
|
|
CA242319424 rs897164806 |
31 | I>F | No |
ClinGen TOPMed |
|
|
rs1274302428 CA386486915 |
32 | V>F | No |
ClinGen gnomAD |
|
|
rs1328361998 CA386486909 |
33 | S>P | No |
ClinGen gnomAD |
|
|
rs750883777 CA6747012 |
35 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037487524 CA242319398 |
36 | Q>P | No |
ClinGen TOPMed |
|
|
CA6747011 rs765682282 |
39 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261313382 CA386305828 |
41 | V>F | No |
ClinGen TOPMed |
|
|
rs1448579961 CA386305816 |
43 | E>Q | No |
ClinGen TOPMed |
|
|
CA386305759 rs1441210167 |
50 | H>Q | No |
ClinGen gnomAD |
|
|
CA6746985 rs765035644 |
56 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA386305722 rs1162900989 |
56 | Y>H | No |
ClinGen TOPMed |
|
|
rs1044640186 CA242480974 |
57 | R>G | No |
ClinGen Ensembl |
|
|
CA386305701 rs1454950358 |
59 | N>D | No |
ClinGen TOPMed |
|
|
rs768260736 CA6746983 |
59 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs916666251 CA242480947 |
60 | I>V | No |
ClinGen TOPMed |
|
|
rs1236456561 CA386305670 |
63 | K>N | No |
ClinGen gnomAD |
|
|
CA386305673 rs1433281660 |
63 | K>R | No |
ClinGen TOPMed |
|
|
rs1173140657 CA386305561 |
73 | M>I | No |
ClinGen gnomAD |
|
|
CA386305566 rs1401092080 |
73 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6746952 rs751701012 |
74 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985184620 CA242476347 COSM288819 |
77 | V>I | lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs985184620 CA386305538 |
77 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386305495 rs1181776674 |
83 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242476329 rs550296256 |
84 | G>D | No |
ClinGen Ensembl |
|
|
CA6746949 rs375264593 |
85 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763827719 CA6746948 |
86 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386305460 rs1196404001 |
89 | L>I | No |
ClinGen gnomAD |
|
|
rs1319700606 CA386305444 |
91 | K>N | No |
ClinGen gnomAD |
|
|
rs767319338 CA6746945 |
93 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1391863896 CA386305429 |
94 | Q>* | No |
ClinGen gnomAD |
|
|
CA6746944 rs759262102 |
94 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386305418 rs1333387950 |
95 | Q>H | No |
ClinGen gnomAD |
|
|
rs1219794997 CA386305405 |
97 | R>S | No |
ClinGen TOPMed |
|
|
CA242476286 TCGA novel rs922229409 |
98 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs574599974 CA6746943 |
100 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA242476278 rs1048374921 |
101 | E>K | No |
ClinGen TOPMed |
|
|
rs1399745492 CA386305373 |
102 | E>K | No |
ClinGen gnomAD |
|
|
CA6746942 rs765860170 |
103 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs867914619 CA242476275 |
103 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773717682 CA6746941 |
107 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746914 rs377553632 |
109 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470989298 CA386305307 |
109 | E>D | No |
ClinGen TOPMed |
|
|
rs778855437 CA6746911 |
113 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6746909 rs756182759 |
116 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs147628724 CA6746910 |
116 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs781141660 CA6746907 |
118 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386305254 rs1296943709 |
118 | P>S | No |
ClinGen gnomAD |
|
|
rs1594236380 CA386305248 |
119 | T>A | No |
ClinGen Ensembl |
|
|
rs1169625130 CA386305195 |
124 | K>R | No |
ClinGen gnomAD |
|
|
CA6746889 rs781230173 |
132 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1359152149 CA386305140 |
132 | H>Y | No |
ClinGen TOPMed |
|
|
CA6746888 rs776650428 |
134 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA386305109 rs1256559189 |
136 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1184993646 CA386305102 |
137 | P>Q | No |
ClinGen gnomAD |
|
|
CA242473477 rs1051498174 |
141 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1467284350 CA386305074 |
142 | D>A | No |
ClinGen TOPMed |
|
|
rs1467284350 CA386305073 |
142 | D>G | No |
ClinGen TOPMed |
|
|
rs758080241 CA6746884 |
142 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1331376332 CA386305060 |
144 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1331376332 CA386305058 |
144 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753322857 CA6746881 |
145 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242473443 rs1040968002 |
146 | P>A | No |
ClinGen TOPMed |
|
|
rs369846031 CA6746879 |
147 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386305042 rs1163302563 |
148 | N>D | No |
ClinGen TOPMed |
|
|
CA6746878 rs141222937 |
149 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141222937 CA386305034 |
149 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386305028 rs1594234234 |
150 | T>P | No |
ClinGen Ensembl |
|
|
CA242473409 rs201316578 |
151 | L>V | No |
ClinGen Ensembl |
|
|
rs1594234218 CA386305008 |
153 | D>A | No |
ClinGen Ensembl |
|
|
COSM3728082 COSM3728081 CA6746876 rs767720615 |
153 | D>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs945023795 CA386305005 |
154 | L>V | No |
ClinGen gnomAD |
|
|
CA6746875 rs759812300 |
156 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242473380 rs537398252 |
157 | L>P | No |
ClinGen 1000Genomes |
|
|
CA242473379 rs148635788 |
158 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1245889696 CA386304976 |
159 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6746873 rs771160327 |
162 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1452587000 CA386304943 |
164 | A>S | No |
ClinGen gnomAD |
|
|
rs1566085509 CA386304940 |
164 | A>V | No |
ClinGen Ensembl |
|
|
rs1227130270 CA386304939 |
165 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1359278405 CA386304936 |
165 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386304935 rs1359278405 |
165 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763162621 CA6746872 |
166 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386304923 rs1241772796 |
167 | I>V | No |
ClinGen gnomAD |
|
|
rs1278644752 CA386304912 |
168 | F>L | No |
ClinGen gnomAD |
|
|
rs550973950 CA6746870 |
169 | N>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA386304893 rs746860631 |
171 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746866 rs745555516 |
174 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 175 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142302101 CA6746865 |
176 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6746864 rs139021858 |
178 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6746863 rs139021858 |
178 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145145416 CA242473328 |
180 | V>A | No |
ClinGen ESP |
|
|
rs756660023 CA6746861 |
181 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA386304835 rs1478450739 |
181 | S>T | No |
ClinGen gnomAD |
|
|
rs1297369171 CA386304824 |
183 | V>I | No |
ClinGen gnomAD |
|
|
CA242473297 rs74863786 |
186 | D>Y | No |
ClinGen Ensembl |
|
|
CA6746859 rs771918262 |
187 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA242473296 rs771918262 |
187 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs970627737 CA242473293 |
189 | K>R | No |
ClinGen Ensembl |
|
|
rs34946266 CA6746858 |
190 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386304744 rs935456185 |
193 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386304738 rs1045470352 |
194 | A>D | No |
ClinGen gnomAD |
|
|
rs767422341 CA6746832 |
194 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA242469736 rs1045470352 |
194 | A>V | No |
ClinGen gnomAD |
|
|
rs903016022 CA242469731 |
195 | H>L | No |
ClinGen TOPMed |
|
|
CA242469733 rs949848883 |
195 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1477041772 CA386304730 |
196 | S>P | No |
ClinGen gnomAD |
|
|
CA386304721 rs1261708006 |
197 | G>E | No |
ClinGen gnomAD |
|
|
CA386304696 rs1394240240 |
201 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 201 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386304693 rs1330242879 |
202 | N>D | No |
ClinGen TOPMed |
|
|
CA386304676 rs1441019398 |
204 | R>T | No |
ClinGen TOPMed |
|
|
CA242469728 rs1047846764 |
207 | V>L | No |
ClinGen Ensembl |
|
|
CA386304643 rs1457887918 |
209 | R>K | No |
ClinGen gnomAD |
|
|
rs1286134541 CA386304635 |
210 | G>D | No |
ClinGen TOPMed |
|
|
rs1259759069 CA386304638 |
210 | G>S | No |
ClinGen gnomAD |
|
|
CA6746816 rs753924329 |
218 | V>F | No |
ClinGen ExAC |
|
|
CA386304555 rs1319799168 |
220 | G>A | No |
ClinGen gnomAD |
|
|
rs1319799168 CA386304556 |
220 | G>E | No |
ClinGen gnomAD |
|
|
rs1566082792 CA386304534 |
224 | M>V | No |
ClinGen Ensembl |
|
|
CA386304526 rs751461388 |
225 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs567299047 CA6746812 |
225 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751461388 CA6746813 |
225 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1377707026 CA386304523 |
225 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs142981565 CA242469470 |
232 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1566082755 CA386304473 |
233 | F>I | No |
ClinGen Ensembl |
|
|
CA6746811 rs762789283 |
234 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386304459 rs886048852 |
235 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746809 rs769387052 |
241 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761467513 CA6746808 |
242 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA386304387 rs1267811873 |
245 | T>I | No |
ClinGen gnomAD |
|
|
rs1487363846 CA386304382 |
246 | K>T | No |
ClinGen TOPMed |
|
|
rs1262194867 CA386304334 |
253 | S>F | No |
ClinGen TOPMed |
|
|
CA386304327 rs1217205948 |
254 | K>R | No |
ClinGen gnomAD |
|
|
CA386304317 rs1288191896 |
256 | K>Q | No |
ClinGen gnomAD |
|
|
rs1237169703 CA386304314 |
256 | K>T | No |
ClinGen gnomAD |
|
|
CA386304307 rs1464343029 |
257 | L>Q | No |
ClinGen TOPMed |
|
|
CA386303738 rs1192356203 |
263 | E>G | No |
ClinGen gnomAD |
|
|
rs946939427 CA242463082 |
265 | S>I | No |
ClinGen gnomAD |
|
|
CA6746781 rs749496744 |
267 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 268 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915523652 CA242463076 |
270 | K>E | No |
ClinGen TOPMed |
|
|
rs200588852 CA6746779 |
272 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386303679 rs1188123025 |
273 | N>D | No |
ClinGen Ensembl |
|
|
CA242463075 rs990815068 |
273 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1274651715 CA386303670 |
274 | P>R | No |
ClinGen TOPMed |
|
|
rs931982370 CA242463049 |
275 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386303658 rs1335548252 |
276 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs368018459 CA242463031 |
278 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386303620 rs1331593139 |
281 | N>K | No |
ClinGen gnomAD |
|
|
rs750332466 CA6746776 |
281 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764960126 CA6746775 |
282 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1394029506 CA386303611 |
283 | Q>K | No |
ClinGen gnomAD |
|
|
rs1198686297 CA386303586 |
286 | K>T | No |
ClinGen TOPMed |
|
|
rs757123160 CA6746774 |
288 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386303554 rs1389588779 |
291 | D>N | No |
ClinGen TOPMed |
|
|
CA386303547 rs1242832182 |
292 | G>R | No |
ClinGen gnomAD |
|
|
rs1594219683 CA386303520 |
296 | T>A | No |
ClinGen Ensembl |
|
|
rs1460547039 CA386303513 |
297 | I>V | No |
ClinGen TOPMed |
|
|
CA386303497 rs1439948085 |
299 | P>A | No |
ClinGen gnomAD |
|
|
rs1295482044 CA386303494 |
299 | P>L | No |
ClinGen TOPMed |
|
|
CA386303499 rs1439948085 |
299 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs146222265 CA242462900 |
300 | A>S | No |
ClinGen 1000Genomes |
|
|
CA386303489 rs1566077998 |
300 | A>V | No |
ClinGen Ensembl |
|
|
CA242462895 rs571919952 CA6746767 |
303 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771322832 CA6746766 |
304 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA242462890 rs370437985 |
305 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs199560005 CA386303439 |
308 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746764 rs199560005 |
308 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386303434 rs1309584473 |
309 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6746763 rs770063376 |
310 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA242462869 rs1034925980 |
310 | S>T | No |
ClinGen TOPMed |
|
|
CA386303421 rs1208886517 |
311 | Q>E | No |
ClinGen TOPMed |
|
|
CA6746762 rs748299048 |
311 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs988926226 CA242462661 |
313 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs773567066 CA6746747 |
313 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748389057 CA6746745 |
320 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6746744 rs768727152 |
322 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386303300 rs747179171 |
326 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368026099 CA386303272 |
330 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1281070218 CA386303248 |
335 | S>T | No |
ClinGen gnomAD |
|
|
CA242462613 rs372546182 |
336 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386303242 rs1404274526 |
336 | I>V | No |
ClinGen gnomAD |
|
|
CA6746736 rs201199784 |
337 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780940504 CA386303236 |
337 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780940504 CA6746737 |
337 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386303229 rs1343486133 |
338 | R>G | No |
ClinGen gnomAD |
|
|
rs751142805 CA386303225 CA6746735 |
338 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746734 rs765752960 |
339 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431907386 CA386303190 |
342 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386303198 rs1276782438 |
342 | W>R | No |
ClinGen TOPMed |
|
|
CA6746730 rs140518816 |
343 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386303174 rs1594219189 |
344 | R>Q | No |
ClinGen Ensembl |
|
|
rs776853774 CA6746728 |
345 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs398124396 RCV000180685 |
346 | I>missing | No |
ClinVar dbSNP |
|
|
CA6746727 rs760750200 |
348 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs7958709 CA386303138 |
348 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775643901 CA6746726 |
351 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs772005612 CA6746725 |
351 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746723 rs777908908 |
352 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386303084 rs1318300314 |
353 | Q>L | No |
ClinGen gnomAD |
|
|
CA242462533 rs939746518 |
354 | I>V | No |
ClinGen Ensembl |
|
|
rs769824827 CA6746722 |
360 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs376023559 CA6746720 |
362 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386302992 rs376023559 |
362 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200784803 CA6746719 |
364 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386302969 rs1232693344 |
365 | V>A | No |
ClinGen TOPMed |
|
|
rs146361341 CA242462473 |
365 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146361341 CA242462475 |
365 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386302955 rs1469644244 |
367 | I>V | No |
ClinGen gnomAD |
|
|
CA6746717 rs779634768 |
369 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386302930 rs1427193351 |
370 | H>Y | No |
ClinGen gnomAD |
|
|
rs1192394370 CA386302896 |
372 | D>N | No |
ClinGen TOPMed |
|
|
CA6746694 rs745438711 |
375 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA242462366 rs967167706 |
376 | N>S | No |
ClinGen Ensembl |
|
|
CA6746692 rs112543062 |
382 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1053110172 CA242462356 |
382 | T>I | No |
ClinGen TOPMed |
|
|
rs1252419828 CA386302792 |
384 | S>N | No |
ClinGen gnomAD |
|
|
rs192067503 CA242462336 |
390 | S>G | No |
ClinGen 1000Genomes |
|
|
rs142320578 CA6746689 |
391 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6746688 rs756486285 |
393 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA386302706 rs756486285 |
393 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6746687 rs373139246 |
394 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373139246 CA242462312 |
394 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1400567143 CA386302679 |
395 | I>S | No |
ClinGen TOPMed |
|
|
CA386302685 rs1292792394 |
395 | I>V | No |
ClinGen gnomAD |
|
|
rs1245543262 COSM161305 CA386302675 |
396 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774589709 CA6746684 |
399 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6746683 rs766504531 |
402 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs947905285 CA242462233 |
403 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6746682 rs761827645 |
403 | I>V | No |
ClinGen ExAC |
|
|
rs1594218809 CA386302580 |
404 | Y>* | No |
ClinGen Ensembl |
|
|
rs1230480721 CA386302586 |
404 | Y>S | No |
ClinGen TOPMed |
|
|
CA242462229 rs137852895 |
407 | D>G | No |
ClinGen Ensembl |
|
|
CA6746681 rs776478014 |
407 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6746679 rs768603881 CA386302516 |
410 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386302518 rs1289916690 |
410 | M>K | No |
ClinGen TOPMed |
|
|
TCGA novel CA386302503 rs1365249318 |
411 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA6746678 rs746844292 |
412 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA386302484 rs1594218765 |
413 | K>N | No |
ClinGen Ensembl |
|
|
CA6746677 rs775250389 |
414 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA242462206 rs893813906 |
418 | D>G | No |
ClinGen Ensembl |
|
|
CA242462201 rs1033673193 |
420 | F>V | No |
ClinGen Ensembl |
|
|
CA386302390 rs1221933857 |
422 | S>N | No |
ClinGen gnomAD |
|
|
rs1594218731 CA386302387 |
422 | S>R | No |
ClinGen Ensembl |
|
|
CA386302347 rs1237096401 |
426 | G>V | No |
ClinGen gnomAD |
|
|
CA386302324 rs1225900790 |
428 | K>N | No |
ClinGen gnomAD |
|
|
CA386302089 rs398124397 |
433 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA386302078 rs1468085953 |
434 | P>L | No |
ClinGen gnomAD |
|
|
CA6746656 COSM199655 rs143228265 |
434 | P>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6746651 rs755439206 |
445 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242461268 rs755439206 |
445 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054100106 CA242461273 |
445 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6746650 rs751953595 |
447 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1185630419 CA386301942 |
451 | Y>D | No |
ClinGen gnomAD |
|
|
rs780485377 CA6746649 |
452 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304207412 CA386301911 |
454 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 456 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765304333 CA6746646 |
462 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386301808 COSM934050 rs1342010486 |
462 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs371705651 CA6746645 |
465 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6746644 rs752590826 |
465 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs767410826 CA6746643 |
466 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6746642 rs759374386 |
467 | D>G | No |
ClinGen ExAC |
|
|
rs1449964385 CA386301709 |
469 | S>P | No |
ClinGen gnomAD |
|
|
rs769293566 CA6746613 |
470 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA386301464 rs769293566 |
470 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs747462356 CA6746612 |
471 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1248162160 CA386301455 |
472 | S>G | No |
ClinGen gnomAD |
|
|
rs1274583739 CA386301427 |
476 | R>G | No |
ClinGen TOPMed |
|
|
rs1224060861 CA386301424 |
476 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1434465669 CA386301418 |
477 | Y>* | No |
ClinGen gnomAD |
|
|
rs746188160 CA6746609 |
477 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242460152 rs145586576 |
477 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779243583 CA6746608 |
478 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs71464289 CA242460144 |
480 | G>E | No |
ClinGen Ensembl |
|
|
CA386301385 rs1194091817 |
483 | G>D | No |
ClinGen TOPMed |
|
|
rs372237237 CA6746606 |
484 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6746605 rs777760681 |
487 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158969069 CA386301362 |
487 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 488 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746603 rs751461873 |
490 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386301333 rs1477421792 |
491 | Q>H | No |
ClinGen gnomAD |
|
|
rs1566075315 CA386301313 |
494 | Q>R | No |
ClinGen Ensembl |
|
|
rs750175670 CA6746600 |
501 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6746599 rs368048979 |
503 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776297380 CA6746598 |
506 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA386301232 rs776297380 |
506 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs772681175 CA242460085 |
508 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772681175 CA6746596 |
508 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA386301214 rs1432961744 |
509 | C>Y | No |
ClinGen gnomAD |
|
|
rs770597304 COSM934049 CA242460077 |
510 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs772436379 CA6746594 |
511 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6746593 rs746301746 |
511 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6746591 rs771144768 |
515 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386301124 rs1302194066 |
522 | A>T | No |
ClinGen TOPMed |
|
| VAR_073130 | 523 | C>R | found in a patient with mucolipidosis type II or III; unknown pathological significance; decreased localization to the Golgi; decreased protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [UniProt] | No | UniProt |
|
rs1566075231 CA386301108 |
524 | N>T | No |
ClinGen Ensembl |
|
|
rs777850397 CA6746589 |
525 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748142361 CA6746587 |
526 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA386301091 rs1260954085 |
527 | S>P | No |
ClinGen gnomAD |
|
|
CA386301038 rs1297169033 |
534 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 536 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386300229 rs755857665 |
538 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA242457368 rs755857665 |
538 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755857665 CA242457370 |
538 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386300220 rs1350959490 |
539 | H>R | No |
ClinGen TOPMed |
|
|
rs753664593 CA6746556 |
542 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1594214928 CA386300159 |
543 | L>F | No |
ClinGen Ensembl |
|
|
CA242457316 rs997157065 |
544 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 546 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746554 rs374471946 |
547 | I>F | No |
ClinGen ESP ExAC |
|
|
rs1204910223 CA386300128 |
548 | L>I | No |
ClinGen TOPMed |
|
|
CA6746552 rs766878522 |
549 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs766878522 CA6746553 |
549 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1269494491 CA386300113 |
550 | P>L | No |
ClinGen gnomAD |
|
|
rs1482654475 CA386300116 |
550 | P>S | No |
ClinGen gnomAD |
|
|
CA386300112 rs1223401181 |
551 | N>D | No |
ClinGen gnomAD |
|
|
rs1594214881 CA386300109 |
551 | N>T | No |
ClinGen Ensembl |
|
|
rs752018352 CA386300104 |
552 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746550 rs752018352 |
552 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146177204 CA6746547 |
554 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139066897 CA6746548 |
554 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6746546 rs770011602 |
555 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761887333 CA6746545 |
556 | I>F | No |
ClinGen ExAC |
|
|
CA242457242 rs999380716 |
557 | I>S | No |
ClinGen Ensembl |
|
|
rs1470903435 COSM430174 CA386300066 |
558 | P>A | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1284450359 CA386300062 |
558 | P>L | No |
ClinGen gnomAD |
|
|
CA386300038 rs1289989185 |
562 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386300016 rs1404720248 |
565 | Y>C | No |
ClinGen TOPMed |
|
|
rs1332796194 CA386299992 |
568 | F>S | No |
ClinGen TOPMed |
|
|
rs1292614290 CA386299986 |
569 | A>S | No |
ClinGen gnomAD |
|
|
rs1594214781 CA386299972 |
571 | V>L | No |
ClinGen Ensembl |
|
|
CA6746541 rs779042719 |
572 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1335939612 CA386299959 |
573 | K>R | No |
ClinGen TOPMed |
|
|
rs148163733 CA6746540 |
576 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386299923 rs1347624955 |
579 | A>T | No |
ClinGen TOPMed |
|
|
CA386299918 rs1489982100 |
579 | A>V | No |
ClinGen Ensembl |
|
|
CA6746538 rs777643676 |
580 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746537 rs375786656 |
583 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6746534 rs754483619 |
585 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs780782923 CA6746535 |
585 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs143788461 COSM934047 CA242457138 |
587 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA6746533 rs751042505 |
589 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386299849 rs1328884363 |
590 | S>F | No |
ClinGen gnomAD |
|
|
CA386299847 rs1284512444 |
591 | I>V | No |
ClinGen gnomAD |
|
|
rs758840501 CA6746532 |
592 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386299833 rs762129410 CA6746529 |
593 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746531 rs188192351 |
593 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6746528 rs372591533 |
598 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386299775 rs1178509093 |
601 | I>M | No |
ClinGen gnomAD |
|
|
CA386299770 rs1281854485 |
602 | M>T | No |
ClinGen gnomAD |
|
|
CA6746525 rs370927635 |
604 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770996690 CA6746524 |
606 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749179651 CA6746523 |
607 | N>S | No |
ClinGen ExAC |
|
|
rs953532631 CA242457067 |
608 | A>V | No |
ClinGen gnomAD |
|
|
rs376476088 CA242457021 |
612 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386299680 rs1566074476 |
612 | H>Y | No |
ClinGen Ensembl |
|
|
rs756140376 CA242457017 |
613 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 614 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386299631 rs780754017 |
616 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780754017 CA6746519 |
616 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780754017 CA6746520 |
616 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746517 rs746584582 |
619 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1255917346 CA386299584 |
620 | T>R | No |
ClinGen gnomAD |
|
|
CA386299562 rs1457540901 |
622 | D>A | No |
ClinGen gnomAD |
|
|
rs1294971636 CA386299567 |
622 | D>N | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386299531 rs1344133366 |
624 | E>V | No |
ClinGen TOPMed |
|
|
rs765744498 CA6746513 |
626 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757613660 CA6746512 CA386299492 |
627 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386299478 rs374265672 |
629 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746510 rs764290104 |
630 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1292363008 CA386299462 |
631 | V>M | No |
ClinGen TOPMed |
|
|
CA242456953 rs758645213 |
633 | V>A | No |
ClinGen gnomAD |
|
|
CA242456970 rs561222064 |
633 | V>L | No |
ClinGen 1000Genomes |
|
|
rs775724815 CA6746508 |
635 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA386299422 rs1243961073 |
635 | T>R | No |
ClinGen gnomAD |
|
|
rs763013681 CA6746506 |
638 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6746504 rs142353440 |
644 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751794568 CA242456926 |
645 | A>S | No |
ClinGen Ensembl |
|
|
rs1359797693 CA386299355 |
646 | Q>P | No |
ClinGen gnomAD |
|
|
CA242456906 rs373662553 |
648 | G>A | No |
ClinGen ESP TOPMed |
|
|
rs768210042 CA6746503 |
649 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140418625 CA6746500 |
650 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940673327 CA242456855 |
655 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779348671 CA6746498 |
656 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242456840 rs1008114130 |
656 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 657 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165193946 CA386299271 |
659 | L>P | No |
ClinGen gnomAD |
|
|
rs757777995 CA6746497 |
660 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA386299262 rs1472025466 |
661 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 663 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746493 rs377477023 |
665 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1594214374 CA386299228 |
666 | F>S | No |
ClinGen Ensembl |
|
|
rs1566074203 CA386299207 |
669 | I>F | No |
ClinGen Ensembl |
|
|
CA386299209 rs1566074203 |
669 | I>V | No |
ClinGen Ensembl |
|
|
rs755571443 CA242456808 |
672 | E>G | No |
ClinGen Ensembl |
|
|
rs751642452 CA6746489 |
672 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 673 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746487 rs761739718 |
674 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1229987552 CA386299163 |
675 | F>L | No |
ClinGen gnomAD |
|
|
rs776317231 CA6746486 |
676 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA242456794 rs766665637 |
680 | R>K | No |
ClinGen Ensembl |
|
|
CA386299122 rs1262269049 |
681 | H>L | No |
ClinGen TOPMed |
|
|
CA386299127 rs1489816567 |
681 | H>N | No |
ClinGen TOPMed |
|
|
rs1262269049 CA386299123 |
681 | H>R | No |
ClinGen TOPMed |
|
|
CA386299115 rs1221429933 |
682 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1366214878 CA386299119 |
682 | D>N | No |
ClinGen gnomAD |
|
|
CA386299109 rs1403747870 |
683 | V>F | No |
ClinGen gnomAD |
|
|
rs529786218 CA242456780 |
686 | T>A | No |
ClinGen Ensembl |
|
|
rs1473761205 CA386299084 |
687 | R>K | No |
ClinGen gnomAD |
|
|
rs778420903 CA6746480 CA6746481 |
687 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA386299069 rs1386585865 |
689 | A>V | No |
ClinGen TOPMed |
|
|
rs1182027219 CA386299062 COSM934043 |
690 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386299050 rs1480498522 |
692 | E>* | No |
ClinGen gnomAD |
|
|
rs771353705 CA6746479 |
692 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450738701 CA386299035 |
694 | K>T | No |
ClinGen gnomAD |
|
|
rs1383772676 CA386299019 |
696 | P>R | No |
ClinGen TOPMed |
|
|
rs1162580785 CA386299022 |
696 | P>S | No |
ClinGen TOPMed |
|
|
CA386299017 rs1284510017 |
697 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 699 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746475 rs753085858 |
701 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386298984 rs1368401652 |
702 | L>P | No |
ClinGen gnomAD |
|
|
rs781619294 CA6746474 |
704 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386298953 rs1459180853 |
707 | A>D | No |
ClinGen gnomAD |
|
|
CA386298935 rs1338756396 |
710 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 711 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939594563 CA242456711 |
711 | L>P | No |
ClinGen TOPMed |
|
|
CA6746471 rs766436645 |
712 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746469 rs753858408 |
715 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386298883 rs1189015271 |
717 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386298864 rs1203374632 |
720 | H>R | No |
ClinGen TOPMed |
|
|
CA6746466 rs775260869 |
721 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 722 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463401820 CA386298848 |
723 | I>V | No |
ClinGen gnomAD |
|
|
CA242456643 rs923732649 |
725 | L>* | No |
ClinGen Ensembl |
|
|
rs1182584185 CA386298823 |
726 | K>N | No |
ClinGen TOPMed |
|
|
rs773754317 CA6746463 |
728 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs573304951 CA6746462 |
729 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386298789 rs1217594771 |
731 | S>F | No |
ClinGen gnomAD |
|
|
rs977689599 CA242456600 |
732 | K>R | No |
ClinGen Ensembl |
|
|
CA386298772 rs1240823097 |
734 | A>G | No |
ClinGen TOPMed |
|
|
CA386298747 rs1298654156 |
738 | S>* | No |
ClinGen gnomAD |
|
|
rs1594214034 TCGA novel CA386298726 |
741 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs369884576 CA242456568 |
744 | Q>* | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 744 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242456565 rs556534288 |
746 | A>S | No |
ClinGen 1000Genomes |
|
|
CA242456559 rs543194251 |
746 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1160226820 CA386298689 |
747 | K>E | No |
ClinGen TOPMed |
|
| rs281864991 | 750 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746459 rs770407978 |
750 | N>K | No |
ClinGen ExAC |
|
|
CA386298656 rs1320375643 |
751 | Q>L | No |
ClinGen gnomAD |
|
|
CA386298649 rs1449204157 |
752 | A>G | No |
ClinGen gnomAD |
|
|
rs781633355 CA6746457 |
753 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6746458 rs781633355 |
753 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6746456 rs755261594 |
754 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1413428655 CA386298624 |
756 | D>E | No |
ClinGen gnomAD |
|
|
CA386298613 rs1179289184 |
758 | T>A | No |
ClinGen TOPMed |
|
|
CA6746454 rs780110962 |
758 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA386298598 rs1451928883 |
760 | D>A | No |
ClinGen TOPMed |
|
|
CA386298592 rs1447222620 |
761 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386298593 rs1447222620 |
761 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6746453 rs758558970 |
762 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1021953064 CA242456466 |
762 | L>V | No |
ClinGen TOPMed |
|
|
CA6746452 rs750459842 |
763 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 766 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746451 rs558911370 |
768 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 768 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235685630 CA386298539 |
769 | Q>E | No |
ClinGen gnomAD |
|
|
rs755981890 CA6746450 |
770 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA386298506 rs1340383541 |
773 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 773 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386298511 rs1230685998 |
773 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1297098100 CA386298501 |
774 | I>F | No |
ClinGen gnomAD |
|
|
CA6746448 rs371253750 |
778 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386298445 rs1309377136 |
782 | S>F | No |
ClinGen gnomAD |
|
|
rs1566073809 CA386298449 |
782 | S>T | No |
ClinGen Ensembl |
|
|
CA386298418 rs1164977543 |
786 | Q>H | No |
ClinGen gnomAD |
|
|
CA386298416 rs200559243 |
787 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6746443 rs200559243 |
787 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs907239369 CA242456399 |
790 | F>L | No |
ClinGen Ensembl |
|
|
CA242456391 rs1036455021 |
792 | A>G | No |
ClinGen Ensembl |
|
|
rs1181226202 CA386298383 |
792 | A>P | No |
ClinGen gnomAD |
|
|
rs1181226202 CA386298384 |
792 | A>T | No |
ClinGen gnomAD |
|
|
rs1566073760 CA386298370 |
794 | S>N | No |
ClinGen Ensembl |
|
|
rs1470506957 CA386298366 |
794 | S>R | No |
ClinGen gnomAD |
|
|
CA6746441 rs748604930 |
795 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386298364 rs748604930 |
795 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207429526 CA386298360 |
796 | K>E | No |
ClinGen gnomAD |
|
|
rs777171038 CA6746440 |
797 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA386298344 rs1274214787 |
798 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1356406688 CA386298330 |
800 | H>P | No |
ClinGen TOPMed |
|
|
CA386298325 rs1594213783 |
801 | D>N | No |
ClinGen Ensembl |
|
|
rs1310955639 CA386298315 |
802 | Q>E | No |
ClinGen gnomAD |
|
|
rs1395490267 CA386298312 |
802 | Q>P | No |
ClinGen TOPMed |
|
|
CA6746437 rs780384518 |
803 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6746436 rs758546111 |
806 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745952026 CA6746435 |
807 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746433 rs756069985 |
808 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 809 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746431 rs368031897 |
815 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6746430 rs754852059 |
817 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386298195 rs1566073646 |
820 | T>I | No |
ClinGen Ensembl |
|
|
CA6746429 rs751298669 |
822 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs553711125 CA6746427 |
826 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6746425 rs772859541 |
828 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1270082983 CA386298124 |
831 | T>I | No |
ClinGen TOPMed |
|
|
CA386298120 rs1197943283 |
832 | K>E | No |
ClinGen TOPMed |
|
|
CA6746423 rs77410031 |
833 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6746421 rs769033819 |
834 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169845050 CA386298102 |
834 | K>R | No |
ClinGen TOPMed |
|
|
rs1227025135 CA386298090 |
836 | P>L | No |
ClinGen gnomAD |
|
|
rs772353421 CA6746418 |
836 | P>S | No |
ClinGen ExAC |
|
|
rs149665129 CA242456271 |
837 | S>P | No |
ClinGen ESP TOPMed |
|
|
rs746042285 CA6746416 |
839 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386298078 rs1301435259 |
839 | I>V | No |
ClinGen gnomAD |
|
|
CA6746415 rs778994037 |
840 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA386298068 rs1291773669 |
841 | P>S | No |
ClinGen TOPMed |
|
|
CA242456252 rs1040919563 |
843 | E>K | No |
ClinGen Ensembl |
|
|
CA242456251 rs1040919563 |
843 | E>Q | No |
ClinGen Ensembl |
|
|
rs1457591234 CA386298049 |
844 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs771037995 CA6746414 |
844 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs281865028 CA6746413 |
845 | Q>K | No |
ClinGen ExAC |
|
|
CA386298041 rs1156860348 |
845 | Q>R | No |
ClinGen gnomAD |
|
|
rs1294265984 CA386298001 |
850 | K>N | No |
ClinGen TOPMed |
|
|
rs939542843 CA242456216 |
852 | I>M | No |
ClinGen TOPMed |
|
|
CA6746412 rs781247480 |
853 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA386297973 rs1434947887 |
855 | K>E | No |
ClinGen gnomAD |
|
|
CA242456182 rs202046119 |
855 | K>R | No |
ClinGen 1000Genomes |
|
|
CA386297965 rs1193200461 |
856 | E>Q | No |
ClinGen gnomAD |
|
|
rs1250226891 CA386297937 |
859 | N>K | No |
ClinGen gnomAD |
|
|
CA386297932 rs1207206683 |
860 | S>N | No |
ClinGen gnomAD |
|
|
rs139411012 CA386297925 |
861 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1486483032 CA386297915 |
862 | M>I | No |
ClinGen TOPMed |
|
|
CA6746409 rs571735738 |
862 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386297902 rs1298497506 |
864 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6746407 rs750143875 |
868 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs764963548 CA6746406 |
868 | N>K | No |
ClinGen ExAC |
|
|
rs761471268 CA386297821 |
869 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6746405 rs761471268 |
869 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs775948211 COSM934040 CA6746402 |
872 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6746400 rs772285705 |
874 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA386297717 rs1346850674 |
877 | L>F | No |
ClinGen TOPMed |
|
|
CA386297692 rs1375933946 |
879 | R>G | No |
ClinGen gnomAD |
|
|
rs1173263842 CA386297670 |
880 | K>M | No |
ClinGen gnomAD |
|
|
CA386297665 rs1450391239 |
880 | K>N | No |
ClinGen gnomAD |
|
|
rs1173263842 CA386297672 |
880 | K>R | No |
ClinGen gnomAD |
|
|
CA6746398 rs774602680 |
883 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA242456067 rs771128294 |
884 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746397 rs771128294 |
884 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386297510 rs1481989535 |
891 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 892 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746392 rs746870755 |
893 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 893 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779927550 CA6746391 |
894 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA6746390 rs200432279 |
896 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs281864999 | 898 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs281864999 | 899 | Y>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750232085 CA6746388 |
900 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6746386 rs375156660 |
902 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286821321 CA386297348 |
902 | D>N | No |
ClinGen TOPMed |
|
|
CA6746384 rs763464149 |
903 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA6746379 rs768045687 |
905 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386296520 rs1451892858 |
906 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 908 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386296508 rs1291543804 |
908 | E>K | No |
ClinGen gnomAD |
|
|
CA386296496 rs1207898186 |
909 | S>* | No |
ClinGen gnomAD |
|
|
CA6746351 rs542467767 |
912 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1441558888 CA6746348 |
920 | S>N | No |
ClinGen gnomAD |
|
|
rs997622954 CA242454387 |
920 | S>R | No |
ClinGen TOPMed |
|
|
rs773343494 CA6746347 |
921 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 924 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746345 rs761868815 |
924 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs281865002 CA386296380 |
926 | Q>L | No |
ClinGen Ensembl |
|
|
rs776709484 CA6746344 |
929 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA386296357 rs1566071860 |
930 | T>A | No |
ClinGen Ensembl |
|
|
CA386296353 rs1342175646 |
930 | T>I | No |
ClinGen TOPMed |
|
|
CA386296338 rs1459340538 |
933 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1594211357 CA386296315 |
936 | R>K | No |
ClinGen Ensembl |
|
|
CA386296312 rs1331945263 |
936 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772153642 CA6746343 |
938 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745752214 CA6746342 |
940 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386296259 rs1566071822 |
944 | S>T | No |
ClinGen Ensembl |
|
|
CA386296254 rs1268317644 |
945 | K>E | No |
ClinGen TOPMed |
|
|
CA242454311 rs1020172077 |
950 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777346722 CA6746338 |
951 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386296210 rs1327071163 |
952 | K>E | No |
ClinGen gnomAD |
|
|
rs1443484087 CA386296206 |
952 | K>R | No |
ClinGen TOPMed |
|
|
CA6746336 rs747616827 |
954 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs281865004 CA242454304 |
956 | H>N | No |
ClinGen Ensembl |
|
|
rs755493862 CA6746334 |
957 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386296171 rs1232293649 |
958 | P>S | No |
ClinGen gnomAD |
|
|
CA386296153 rs766838280 CA6746332 |
960 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752018430 CA6746333 |
960 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758750238 CA6746331 |
961 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6746330 rs750799040 |
962 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1426573674 CA386296138 |
963 | R>Q | No |
ClinGen gnomAD |
|
|
rs762041904 CA6746328 |
963 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 964 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746327 rs764229793 |
964 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA6746326 rs764229793 |
964 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000174796 rs398124398 |
966 | M>missing | No |
ClinVar dbSNP |
|
|
rs760807924 CA6746325 |
966 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA386296116 rs1390395825 |
967 | Q>* | No |
ClinGen gnomAD |
|
|
rs1463358241 CA386296109 |
968 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386296077 rs1308586135 |
972 | M>T | No |
ClinGen gnomAD |
|
|
rs1566071553 CA386296048 |
974 | P>L | No |
ClinGen Ensembl |
|
|
CA242454010 rs910993325 |
975 | E>K | No |
ClinGen Ensembl |
|
|
CA386296020 rs1211737838 |
978 | D>G | No |
ClinGen TOPMed |
|
|
rs986844570 CA242453998 |
980 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6746288 rs201746781 |
985 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776312538 CA6746286 |
986 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 987 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222574263 CA386295947 |
989 | E>G | No |
ClinGen gnomAD |
|
|
rs1019931994 CA242453981 |
990 | D>N | No |
ClinGen gnomAD |
|
|
CA386295925 rs1594210932 |
992 | Q>* | No |
ClinGen Ensembl |
|
|
rs1309480062 CA386295909 |
994 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1460204756 CA386295904 |
995 | F>L | No |
ClinGen gnomAD |
|
|
rs1010106898 CA242453958 |
996 | S>F | No |
ClinGen Ensembl |
|
|
rs1594210905 CA386295888 |
997 | Y>C | No |
ClinGen Ensembl |
|
|
rs752255426 CA242453953 |
998 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs768296039 CA6746284 |
999 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1226291369 CA386295672 |
1002 | M>V | No |
ClinGen gnomAD |
|
|
CA386295620 rs1187090099 |
1005 | V>M | No |
ClinGen gnomAD |
|
|
CA6746281 rs772482837 |
1010 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs772482837 CA6746282 |
1010 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1479816658 CA386295508 |
1011 | S>P | No |
ClinGen gnomAD |
|
|
rs1250938100 CA386295478 |
1012 | Q>H | No |
ClinGen gnomAD |
|
|
CA386295448 rs1222831048 |
1014 | F>S | No |
ClinGen gnomAD |
|
|
rs1323828950 CA386295430 |
1015 | D>A | No |
ClinGen gnomAD |
|
|
rs985051236 CA242453924 |
1015 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757691705 CA6746279 |
1020 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6746280 rs779258493 |
1020 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA242453900 rs777507587 |
1022 | S>F | No |
ClinGen TOPMed |
|
|
rs756336336 CA6746276 |
1023 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1394722866 CA386295257 |
1024 | V>A | No |
ClinGen TOPMed |
|
|
CA386295176 rs1391934802 |
1029 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752836561 CA6746273 |
1030 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758294588 CA386295164 |
1031 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3772227 rs758294588 CA6746271 |
1031 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1594210754 CA386295153 |
1033 | L>R | No |
ClinGen Ensembl |
|
|
rs765060587 CA6746269 |
1036 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6746267 rs539275893 |
1037 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6746268 rs761651358 |
1037 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386295128 rs1213456322 |
1038 | H>D | No |
ClinGen gnomAD |
|
|
CA386295127 rs1213456322 |
1038 | H>Y | No |
ClinGen gnomAD |
|
|
rs774893871 CA6746264 |
1039 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs201356176 CA6746265 |
1039 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386295106 rs1250137388 |
1041 | P>L | No |
ClinGen TOPMed |
|
|
CA386295108 rs1250137388 |
1041 | P>Q | No |
ClinGen TOPMed |
|
|
rs1325046302 CA386295072 |
1045 | Q>* | No |
ClinGen gnomAD |
|
|
rs1293355610 CA386294977 |
1046 | D>N | No |
ClinGen gnomAD |
|
|
rs760435223 CA6746248 |
1047 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1566070850 CA386294933 |
1049 | G>D | No |
ClinGen Ensembl |
|
|
CA6746247 rs775265734 |
1050 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6746245 rs767066788 |
1052 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242453168 rs888413117 |
1053 | M>I | No |
ClinGen TOPMed |
|
|
CA6746242 rs150160103 |
1053 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773666142 CA6746243 |
1053 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386294854 rs749759865 |
1056 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749759865 CA6746241 |
1056 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386294839 rs1191474177 |
1057 | C>R | No |
ClinGen gnomAD |
|
|
rs1316290374 CA386294813 |
1059 | K>E | No |
ClinGen TOPMed |
|
|
rs1594209846 CA386294786 |
1060 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1060 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242453143 rs201253355 |
1061 | L>F | No |
ClinGen 1000Genomes |
|
|
CA6746238 rs143333669 |
1061 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386294766 rs1484374820 |
1062 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1062 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1188580 CA6746237 rs748438633 |
1064 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs202082876 CA6746236 |
1065 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6746233 rs779950443 |
1070 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA242453089 rs201701089 |
1071 | I>M | No |
ClinGen Ensembl |
|
|
rs1341043294 CA386294657 |
1071 | I>T | No |
ClinGen gnomAD |
|
|
COSM79193 rs1430287278 CA386294635 |
1075 | Q>* | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 1075 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386294621 rs1353572027 |
1077 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1078 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753813157 CA6746231 |
1079 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777670284 CA6746230 |
1080 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386294590 rs1369568840 |
1081 | P>R | No |
ClinGen gnomAD |
|
|
rs375783746 CA6746229 |
1081 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386294587 rs1166573346 |
1082 | N>D | No |
ClinGen TOPMed |
|
|
rs777758175 CA386294076 |
1084 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777758175 CA6746212 |
1084 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM341577 CA6746211 rs577252804 |
1085 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs751206784 CA6746207 |
1087 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746208 rs751206784 |
1087 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386293995 rs1271480110 |
1088 | K>R | No |
ClinGen TOPMed |
|
|
rs766107961 CA6746206 |
1089 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA386293976 rs1468012406 |
1089 | S>N | No |
ClinGen gnomAD |
|
|
rs762179679 CA6746202 |
1091 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs765841971 CA6746203 |
1091 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765841971 CA6746204 |
1091 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001008727 rs1594207573 |
1093 | N>* | No |
ClinVar dbSNP |
|
|
CA386293764 rs1268189370 |
1098 | T>P | No |
ClinGen TOPMed |
|
|
CA386293711 rs1328423536 |
1100 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1100 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439120533 CA386293699 |
1100 | K>R | No |
ClinGen gnomAD |
|
|
CA242451149 rs200298112 |
1101 | I>L | No |
ClinGen 1000Genomes |
|
|
rs761079309 CA6746199 |
1105 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA6746197 rs140312213 |
1106 | K>M | No |
ClinGen ESP ExAC |
|
|
rs1157466277 CA386293554 |
1107 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1111 | Y>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386293450 rs1318052203 |
1112 | R>K | No |
ClinGen gnomAD |
|
|
COSM1196975 rs1474425244 CA386293345 |
1114 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6746171 rs767741989 |
1116 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs915045768 CA242450780 |
1117 | G>R | No |
ClinGen Ensembl |
|
|
CA386293289 rs1350058279 |
1118 | E>G | No |
ClinGen TOPMed |
|
|
rs1203561820 CA386293278 |
1119 | E>D | No |
ClinGen TOPMed |
|
|
COSM1628320 CA6746170 rs759703222 |
1119 | E>G | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 1120 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM2063603 CA6746168 rs774443381 |
1122 | A>T | Variant assessed as Somatic; 9.243e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443902801 CA386293225 |
1126 | I>M | No |
ClinGen TOPMed |
|
|
rs770952898 CA6746167 |
1127 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6746166 rs749361169 COSM934036 |
1127 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749361169 CA242450733 |
1127 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs770952898 CA386293224 |
1127 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA386293210 rs1216657781 |
1129 | N>S | No |
ClinGen gnomAD |
|
|
rs768634271 CA6746164 |
1130 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1246281119 CA386293154 |
1138 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6746162 COSM3359503 rs758156963 |
1139 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA242450661 rs971386555 |
1143 | N>K | No |
ClinGen TOPMed |
|
|
rs770879064 CA242450646 |
1144 | P>A | No |
ClinGen gnomAD |
|
|
rs577796531 CA6746160 |
1144 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770879064 CA386293112 |
1144 | P>S | No |
ClinGen gnomAD |
|
| rs1451696033 | 1145 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6746159 rs778606499 |
1145 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1436977025 CA386292799 |
1151 | N>H | No |
ClinGen gnomAD |
|
|
CA386292759 rs1393719423 |
1154 | I>V | No |
ClinGen gnomAD |
|
|
rs1369950163 CA386292749 |
1155 | D>H | No |
ClinGen TOPMed |
|
|
rs1198591535 CA386292730 |
1156 | H>R | No |
ClinGen gnomAD |
|
|
CA242447925 rs144851964 |
1157 | N>I | No |
ClinGen ESP |
|
|
rs777292254 CA6746138 |
1159 | K>R | No |
ClinGen ExAC |
|
|
CA386292670 rs1429668294 |
1160 | D>E | No |
ClinGen gnomAD |
|
|
CA386292655 rs1473033966 |
1161 | A>G | No |
ClinGen TOPMed |
|
|
CA6746137 rs756642388 |
1161 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386292594 rs1566067376 |
1164 | V>A | No |
ClinGen Ensembl |
|
|
CA386292601 rs1487651519 |
1164 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6746135 rs781645250 |
1166 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA386292488 rs1227851433 |
1171 | F>C | No |
ClinGen gnomAD |
|
|
rs764570097 CA6746133 |
1171 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA242447786 rs764570097 |
1171 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs149859473 COSM1358180 CA6746131 |
1172 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA386292482 rs1384792819 |
1172 | Y>H | No |
ClinGen gnomAD |
|
|
CA6746129 rs765449372 |
1173 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs772131427 CA386292428 CA6746126 |
1175 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746128 rs775626564 |
1175 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746127 rs775626564 |
1175 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339851890 CA386292436 |
1175 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369510134 CA6746124 CA6746125 |
1176 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258076919 CA386292398 |
1177 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1040259737 CA386292406 |
1177 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1040259737 CA242447726 |
1177 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770515265 CA6746123 |
1178 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs748934248 CA6746122 |
1178 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386292260 rs1424175910 |
1187 | E>V | No |
ClinGen TOPMed |
|
|
CA242447649 rs925741743 |
1188 | Y>D | No |
ClinGen Ensembl |
|
|
CA6746118 rs141007019 COSM934035 |
1189 | R>Q | endometrium Variant assessed as Somatic; 0.000231 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1473507508 CA386292229 |
1190 | N>D | No |
ClinGen TOPMed |
|
|
rs376398528 CA6746117 |
1191 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758660406 CA6746115 CA386292150 |
1195 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA386292144 rs1566067234 |
1196 | H>R | No |
ClinGen Ensembl |
|
|
rs979933501 CA242447578 |
1196 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA386292121 rs766408752 |
1199 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386292124 rs1304219254 |
1199 | Q>P | No |
ClinGen TOPMed |
|
|
CA242444590 rs143943289 |
1205 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143943289 CA6746093 |
1205 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767256340 CA242444575 |
1206 | D>E | No |
ClinGen Ensembl |
|
|
CA242444588 rs963876133 |
1206 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386291740 rs1191603952 |
1214 | C>Y | No |
ClinGen gnomAD |
|
|
rs762869691 CA6746089 |
1217 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386291703 rs1566065275 |
1218 | T>R | No |
ClinGen Ensembl |
|
|
CA6746087 rs139987562 |
1221 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1365048157 CA386291663 |
1222 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6746086 rs761405528 |
1224 | I>T | No |
ClinGen ExAC |
|
|
rs776148227 CA6746084 |
1225 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1228 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408973492 CA386291603 |
1228 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1229 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1229 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1233 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413652136 CA386291452 COSM934032 |
1237 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs867728309 CA242441984 |
1245 | I>T | No |
ClinGen Ensembl |
|
|
CA386291287 rs1421650632 |
1249 | A>V | No |
ClinGen gnomAD |
|
|
RCV000675283 CA386291271 rs1555267626 |
1251 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6746052 rs749653387 |
1252 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778120023 CA242441950 |
1253 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6746050 rs769838026 |
1254 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386291216 rs1264177273 |
1255 | R>S | No |
ClinGen TOPMed |
|
|
rs1429298374 CA682773178 |
1257 | V>E | No |
ClinGen TOPMed |
3 associated diseases with Q3T906
[MIM: 252500]: Mucolipidosis type II (MLII)
Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. {ECO:0000269|PubMed:16200072, ECO:0000269|PubMed:16835905, ECO:0000269|PubMed:19197337, ECO:0000269|PubMed:19617216, ECO:0000269|PubMed:19634183, ECO:0000269|PubMed:19938078, ECO:0000269|PubMed:22495880, ECO:0000269|PubMed:23566849, ECO:0000269|PubMed:23733939, ECO:0000269|PubMed:23773965, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:24798265, ECO:0000269|PubMed:25505245, ECO:0000269|PubMed:25788519, ECO:0000269|PubMed:28918368}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 252600]: Mucolipidosis type III complementation group A (MLIIIA)
Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or intellectual disability. {ECO:0000269|PubMed:16094673, ECO:0000269|PubMed:16465621, ECO:0000269|PubMed:16630736, ECO:0000269|PubMed:17034777, ECO:0000269|PubMed:19197337, ECO:0000269|PubMed:19617216, ECO:0000269|PubMed:19634183, ECO:0000269|PubMed:19938078, ECO:0000269|PubMed:23566849, ECO:0000269|PubMed:24045841, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:24550498, ECO:0000269|PubMed:25505245, ECO:0000269|PubMed:25788519, ECO:0000269|PubMed:28918368}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. {ECO:0000269|PubMed:16200072, ECO:0000269|PubMed:16835905, ECO:0000269|PubMed:19197337, ECO:0000269|PubMed:19617216, ECO:0000269|PubMed:19634183, ECO:0000269|PubMed:19938078, ECO:0000269|PubMed:22495880, ECO:0000269|PubMed:23566849, ECO:0000269|PubMed:23733939, ECO:0000269|PubMed:23773965, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:24798265, ECO:0000269|PubMed:25505245, ECO:0000269|PubMed:25788519, ECO:0000269|PubMed:28918368}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or intellectual disability. {ECO:0000269|PubMed:16094673, ECO:0000269|PubMed:16465621, ECO:0000269|PubMed:16630736, ECO:0000269|PubMed:17034777, ECO:0000269|PubMed:19197337, ECO:0000269|PubMed:19617216, ECO:0000269|PubMed:19634183, ECO:0000269|PubMed:19938078, ECO:0000269|PubMed:23566849, ECO:0000269|PubMed:24045841, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:24550498, ECO:0000269|PubMed:25505245, ECO:0000269|PubMed:25788519, ECO:0000269|PubMed:28918368}. Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for Q3T906
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Notch domain | 431 - 473 | IPR000800-1 |
| domain | Notch domain | 498 - 536 | IPR000800-2 |
| domain | EF-hand domain | 1005 - 1040 | IPR002048 |
| domain | DMAP1-binding domain | 699 - 816 | IPR010506 |
| binding_site | EF-Hand 1, calcium-binding site | 1018 - 1030 | IPR018247 |
| domain | Stealth protein CR2, conserved region 2 | 322 - 428 | IPR021520 |
| domain | Stealth protein CR4, conserved region 4 | 1138 - 1194 | IPR031356 |
| domain | Stealth protein CR3, conserved region 3 | 955 - 1003 | IPR031357 |
| domain | Stealth protein CR1, conserved region 1 | 73 - 100 | IPR031358 |
| domain | N-acetylglucosamine-1-phosphotransferase subunit alpha/beta, regulatory domain | 218 - 305 | IPR041536 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.8.17 | Transferases for other substituted phosphate groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex | A protein complex that possesses UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; the bovine complex contains disulfide-linked homodimers of 166- and 51-kDa subunits and two identical, noncovalently associated 56-kDa subunits. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate phosphorylation | The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y. |
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
| N-glycan processing to lysosome | The modification of high-mannose N-glycans by UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase and the subsequent removal of the N-acetylglucosamine residues yielding mannose-6-P that occurs in the ER-Golgi apparatus to N-glycans destined for the lysosome. |
| secretion of lysosomal enzymes | The controlled release of lysosomal enzymes by a cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLFKLLQRQT | YTCLSHRYGL | YVCFLGVVVT | IVSAFQFGEV | VLEWSRDQYH | VLFDSYRDNI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGKSFQNRLC | LPMPIDVVYT | WVNGTDLELL | KELQQVREQM | EEEQKAMREI | LGKNTTEPTK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KSEKQLECLL | THCIKVPMLV | LDPALPANIT | LKDLPSLYPS | FHSASDIFNV | AKPKNPSTNV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SVVVFDSTKD | VEDAHSGLLK | GNSRQTVWRG | YLTTDKEVPG | LVLMQDLAFL | SGFPPTFKET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NQLKTKLPEN | LSSKVKLLQL | YSEASVALLK | LNNPKDFQEL | NKQTKKNMTI | DGKELTISPA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YLLWDLSAIS | QSKQDEDISA | SRFEDNEELR | YSLRSIERHA | PWVRNIFIVT | NGQIPSWLNL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DNPRVTIVTH | QDVFRNLSHL | PTFSSPAIES | HIHRIEGLSQ | KFIYLNDDVM | FGKDVWPDDF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YSHSKGQKVY | LTWPVPNCAE | GCPGSWIKDG | YCDKACNNSA | CDWDGGDCSG | NSGGSRYIAG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GGGTGSIGVG | QPWQFGGGIN | SVSYCNQGCA | NSWLADKFCD | QACNVLSCGF | DAGDCGQDHF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HELYKVILLP | NQTHYIIPKG | ECLPYFSFAE | VAKRGVEGAY | SDNPIIRHAS | IANKWKTIHL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IMHSGMNATT | IHFNLTFQNT | NDEEFKMQIT | VEVDTREGPK | LNSTAQKGYE | NLVSPITLLP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EAEILFEDIP | KEKRFPKFKR | HDVNSTRRAQ | EEVKIPLVNI | SLLPKDAQLS | LNTLDLQLEH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GDITLKGYNL | SKSALLRSFL | MNSQHAKIKN | QAIITDETND | SLVAPQEKQV | HKSILPNSLG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VSERLQRLTF | PAVSVKVNGH | DQGQNPPLDL | ETTARFRVET | HTQKTIGGNV | TKEKPPSLIV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PLESQMTKEK | KITGKEKENS | RMEENAENHI | GVTEVLLGRK | LQHYTDSYLG | FLPWEKKKYF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QDLLDEEESL | KTQLAYFTDS | KNTGRQLKDT | FADSLRYVNK | ILNSKFGFTS | RKVPAHMPHM |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IDRIVMQELQ | DMFPEEFDKT | SFHKVRHSED | MQFAFSYFYY | LMSAVQPLNI | SQVFDEVDTD |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| QSGVLSDREI | RTLATRIHEL | PLSLQDLTGL | EHMLINCSKM | LPADITQLNN | IPPTQESYYD |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PNLPPVTKSL | VTNCKPVTDK | IHKAYKDKNK | YRFEIMGEEE | IAFKMIRTNV | SHVVGQLDDI |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| RKNPRKFVCL | NDNIDHNHKD | AQTVKAVLRD | FYESMFPIPS | QFELPREYRN | RFLHMHELQE |
| 1210 | 1220 | 1230 | 1240 | 1250 | |
| WRAYRDKLKF | WTHCVLATLI | MFTIFSFFAE | QLIALKRKIF | PRRRIHKEAS | PNRIRV |