P49748
PR
Gene name |
ACADVL |
Protein name |
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial |
Names |
VLCAD |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:37 |
EC number |
1.3.8.9: With a flavin as acceptor |
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 P49748
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2UXW | X-ray | 145 A | A | 72-655 | PDB |
| 3B96 | X-ray | 191 A | A | 69-655 | PDB |
| 7S7G | X-ray | 134 A | A | 69-655 | PDB |
| AF-P49748-F1 | Predicted | AlphaFoldDB |
907 variants for P49748
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs768236474 RCV000671153 |
1 | M>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667776 rs1555527450 |
6 | M>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555527464 RCV000673805 |
12 | R>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750670 RCV002472377 CA287433650 RCV001003624 |
13 | Q>* | Very long chain acyl-CoA dehydrogenase deficiency Rhabdomyolysis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2230179 RCV000020078 CA341522 VAR_029286 RCV000224359 RCV000251701 |
17 | L>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs727503788 CA233425 RCV000985184 RCV000152732 |
22 | S>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000755204 RCV000020079 CA341524 rs34153370 |
23 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001200784 rs2071119862 |
27 | L>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397722050 RCV001772097 RCV000811848 rs1597516267 |
27 | L>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000652040 CA397722062 rs1247979958 |
29 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs754806489 CA8337544 RCV000690917 |
32 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781061205 RCV000795353 CA8337545 |
34 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1443151475 RCV000652036 |
35 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1329022268 RCV000652031 |
35 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1165915680 RCV001200676 CA397722104 |
36 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000665413 rs1555527532 |
37 | R>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337546 RCV000367977 RCV002450886 rs536992268 |
37 | R>W | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs367705640 CA8337550 RCV000690439 |
41 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2071123075 RCV001063280 |
43 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000020071 VAR_000330 RCV001689571 rs2230178 RCV000253810 CA341517 |
43 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002379756 RCV001200677 CA287433944 rs573810960 |
44 | A>T | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs2071124062 RCV001067236 |
45 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200670 rs2071146837 |
52 | S>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200678 CA397722259 rs1405660468 |
60 | L>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1213143512 RCV001200679 CA397722268 |
62 | R>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771055189 RCV000669061 |
64 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690630 rs771055189 |
65 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA285292 RCV000420053 rs28934585 RCV000020076 RCV000077913 VAR_048176 RCV000001698 |
65 | P>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000989692 rs765432568 CA287434293 |
67 | K>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs796051912 RCV002259319 RCV000185734 |
71 | K>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200680 RCV002282479 rs1161495077 CA397722348 |
72 | S>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2071156261 RCV001200681 |
73 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337604 RCV000669555 RCV002531230 RCV001731870 rs750043368 |
76 | G>E | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA397722375 rs1555527718 RCV000666717 |
77 | M>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338835 rs2071157517 |
79 | K>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299779 rs1460278489 |
80 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667548 rs1452339268 |
84 | T>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1247360325 RCV001213341 |
85 | D>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397722434 rs1555527732 RCV000667158 |
86 | Q>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200682 CA312247 rs796051907 |
87 | V>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771808680 RCV000667604 |
89 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200683 rs2071160066 |
91 | P>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000077914 RCV001200852 CA220204 rs398123087 |
91 | P>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886053373 CA10650874 RCV000385029 |
93 | V>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000703241 rs139427392 RCV001508429 CA8337641 |
96 | E>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200840 rs2071168842 |
98 | Q>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000178701 rs794727695 CA245879 COSM3820439 RCV001852220 RCV001306639 |
98 | Q>H | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinVar dbSNP ClinGen cosmic curated NCI-TCGA gnomAD |
|
RCV000673162 rs1555527806 |
100 | Q>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204713 RCV000724267 RCV000169528 |
100 | Q>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805818 CA8337643 rs750675692 |
100 | Q>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1268173973 RCV001122812 |
100 | Q>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001580491 RCV000410821 rs1057516979 |
103 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140566084 RCV001508430 RCV001122813 CA8337646 RCV000241751 |
103 | K>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000412713 RCV002286572 rs1057518506 |
106 | V>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001855162 RCV000272747 CA10605274 rs886043235 |
108 | P>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1597520263 RCV000803389 |
109 | V>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626269 CA8337650 rs754207297 RCV002529784 |
109 | V>M | Pearson syndrome Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001200684 CA397722598 rs757608507 |
110 | S>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000667871 rs1555527820 |
111 | R>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397722617 rs750653177 RCV000541584 |
113 | F>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001200685 rs2071172343 |
113 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652033 rs557260142 CA8337656 |
114 | E>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs370146676 RCV001200673 |
115 | E>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337682 rs370146676 RCV001200853 |
115 | E>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs543878973 CA287435245 RCV001045554 |
118 | D>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2071181405 RCV001200686 |
118 | D>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200687 rs761449573 |
120 | A>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690847 RCV000432463 rs1057520088 CA16603209 |
122 | N>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397722756 RCV001829408 rs1131691301 RCV000494469 |
123 | D>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200688 rs1347143307 CA397722752 |
123 | D>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1347143307 RCV001200689 |
123 | D>Y | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397722767 RCV000706914 rs1416443472 |
125 | L>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001200812 rs2071183181 |
126 | E>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397722790 rs1402849815 RCV001346101 RCV000593991 |
129 | E>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs387906251 VAR_000331 RCV000001693 RCV001596930 |
130 | E>missing | ACADVLD Very long chain acyl-CoA dehydrogenase deficiency [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
VAR_000331 rs387906251 |
130 | E>del | ACADVLD [UniProt] | Yes |
UniProt dbSNP |
|
CA397722820 RCV000675043 rs1555527907 |
133 | W>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200813 rs2071184523 |
135 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001287752 rs1460246415 |
136 | L>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042754 rs2071185757 |
140 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071185652 RCV001223162 |
141 | A>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA220207 RCV000077916 rs398123088 RCV000984921 |
142 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758144859 RCV000480851 RCV000671508 |
143 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200814 rs1458941582 |
143 | G>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852231 RCV000179233 rs794727773 CA246510 |
143 | G>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1458941582 CA397722884 RCV001200815 RCV000756958 |
143 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001990553 CA312249 rs794727773 |
143 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA397722889 rs1555527925 RCV000652038 |
144 | L>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204738 RCV000169585 CA274436 |
145 | Q>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA220209 RCV000077917 RCV001854368 rs398123089 |
146 | V>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200816 rs398123089 |
146 | V>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA287435425 rs1032857886 RCV000673732 |
147 | P>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA246508 rs794727772 RCV000179232 RCV001337172 |
152 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2071188406 RCV001200817 |
154 | G>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071188725 RCV001200818 |
156 | C>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139973845 RCV001200854 CA8337702 |
156 | C>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_000332 | 158 | T>N | ACADVLD [UniProt] | Yes | UniProt |
|
rs2071189324 RCV001200819 |
159 | Q>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000333 rs746688190 CA8337704 RCV001200731 |
159 | Q>R | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001226208 rs371910495 |
160 | Y>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337740 RCV000271784 rs375284481 |
161 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000185711 RCV000675132 rs796051908 CA312251 |
161 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200820 CA8337743 rs751423064 |
162 | R>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000820712 RCV000755780 rs754756970 CA8337744 |
162 | R>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2071225938 RCV001200821 |
164 | V>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000077918 rs370169077 CA220211 RCV000723695 RCV001372480 |
165 | E>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2071226145 RCV001200822 |
165 | E>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516369 RCV000412008 |
166 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199991742 CA8337748 RCV001200823 |
167 | V>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001200824 rs2071227236 |
168 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350718 rs1382262076 |
169 | M>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200825 rs2071227343 |
169 | M>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200826 rs796051920 RCV000185744 |
169 | M>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397723053 rs1382262076 RCV001063820 |
169 | M>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001200735 rs2071227581 |
171 | D>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000995475 rs1597524963 CA397723077 |
172 | L>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200736 CA8337751 RCV000755770 rs372684079 |
174 | V>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369560930 CA220213 VAR_000334 RCV000077919 COSM983824 RCV000179696 |
174 | V>M | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency endometrium ACADVLD [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1300720825 RCV001326138 |
176 | I>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691808 RCV002524042 CA397723106 RCV000493429 RCV001200737 |
178 | L>P | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041356 rs796051909 |
179 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796051909 RCV000671223 CA312253 RCV002282015 |
179 | G>W | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000152735 RCV000675106 rs727503791 CA295584 |
180 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001200674 rs1337636757 |
181 | H>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554955 rs1425862331 RCV000594820 CA397723123 |
181 | H>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2071230096 RCV001200738 |
182 | Q>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597525249 RCV000805756 |
184 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA312291 RCV000185742 RCV000412436 rs545215807 VAR_000335 |
185 | G>S | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2071231444 RCV001200739 |
188 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071231356 RCV001040243 |
188 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062442 rs1258134795 |
189 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397723196 rs1555528189 RCV001200740 RCV000597061 |
192 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000498240 rs1220348903 RCV000673457 CA397723203 |
193 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs763630981 RCV001200732 CA8337761 |
193 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002355029 rs199763196 RCV001048713 CA8337763 |
195 | K>E | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001557654 CA8337764 RCV001241261 RCV002357033 rs201370388 |
196 | A>V | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001232551 rs2071233301 |
197 | Q>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200741 rs2071233392 |
198 | K>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337766 RCV000670134 rs371407903 |
201 | Y>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200733 rs1597525536 |
201 | Y>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071233789 RCV001050460 |
201 | Y>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000077920 rs398123090 RCV001001444 CA220214 |
202 | L>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000723640 rs398123090 CA220216 RCV001200734 |
202 | L>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001001445 CA397723279 rs1597525633 |
205 | L>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000666689 rs768975918 CA8337769 |
207 | S>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001200742 rs2071251302 |
208 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337771 rs748329498 RCV001200726 |
208 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001806040 RCV001200743 CA8337798 rs775400380 RCV001814279 |
210 | T>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001203253 rs1489679976 |
211 | V>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA233431 VAR_010101 RCV000152737 RCV000702574 rs140629318 |
213 | A>P | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV000723371 RCV000180089 RCV002515289 COSM3403177 rs140629318 CA275413 |
213 | A>T | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency central_nervous_system Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs2071252145 RCV001200744 |
213 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516714 RCV000410797 RCV001008029 |
214 | F>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652043 rs1192969297 CA397723367 RCV000734877 |
214 | F>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2071252808 RCV001200745 |
217 | T>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556767 VAR_000336 rs1432183079 CA397723393 |
218 | E>K | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA220218 rs398123091 RCV000077922 COSM179678 RCV000169301 CA397723419 |
222 | G>R | Very long chain acyl-CoA dehydrogenase deficiency large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated TOPMed gnomAD ClinVar dbSNP |
|
RCV001200675 rs2071253904 |
223 | S>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200841 rs2071254166 |
226 | A>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704804 rs746860401 |
228 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327882 rs2071254536 |
228 | I>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000169238 CA274078 RCV000579295 rs786204536 |
229 | R>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002365899 RCV001200855 CA8337812 rs777955007 |
229 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2071255080 RCV001047888 |
230 | T>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792876 rs1241935771 CA397723471 |
230 | T>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001200746 rs2071256120 |
235 | S>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1336637427 CA397723506 RCV001279286 |
236 | P>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001200780 rs2071256607 |
237 | C>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555528304 RCV000586725 |
237 | C>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1385931 RCV001193468 rs1189763523 CA397723509 RCV001828597 |
237 | C>R | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002365702 rs776331587 RCV001053842 CA8337817 |
239 | K>E | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8337818 rs575789958 RCV001069204 |
241 | Y>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001830062 CA8337819 rs769631635 RCV001260359 RCV002379962 |
242 | T>I | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772999007 CA8337820 RCV001200856 |
243 | L>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_000337 | 243 | L>R | ACADVLD [UniProt] | Yes | UniProt |
|
CA8337821 rs762631117 RCV000823632 |
245 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555528320 RCV000559821 RCV001192882 CA397723567 |
246 | S>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs387906253 CA397723573 VAR_010102 RCV000668561 |
247 | K>E | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001250508 CA352217 RCV000001698 rs387906253 |
247 | K>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_000338 | 247 | K>T | ACADVLD [UniProt] | Yes | UniProt |
|
rs2071258420 RCV001200799 |
249 | W>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000506135 rs141167669 CA8337823 |
249 | W>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000373221 rs749159573 CA10640460 |
251 | S>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001200748 rs2071263384 |
252 | N>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071263753 RCV001200690 |
253 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652028 rs1555528345 CA397723626 |
253 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765423779 CA8337848 RCV001200691 |
254 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555528346 RCV000673326 |
254 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200692 rs2071264273 |
256 | A>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204462 rs2071264706 |
257 | D>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071264623 RCV001287279 |
257 | D>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200693 rs1197133430 |
258 | I>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397723661 rs1197133430 RCV001059797 |
258 | I>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA341526 rs113994168 VAR_000339 |
260 | T>M | ACADVLD [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs756069599 CA8337852 RCV001001008 |
261 | V>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597528061 RCV001000782 CA397723686 |
262 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210822 rs1231343685 CA397723695 |
264 | K>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2071266269 RCV001200801 |
266 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410749 rs761204548 |
267 | V>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693564 rs1567564499 |
270 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071266963 RCV001200694 |
270 | P>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001086185 rs150149784 CA312255 RCV000185714 |
273 | G>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000652037 rs1555528367 |
276 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002519571 RCV000527513 RCV000185735 rs796051913 |
277 | E>missing | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002519078 rs769280599 RCV000271659 RCV000723470 |
278 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_000340 | 278 | K>del | ACADVLD [UniProt] | Yes | UniProt |
| VAR_000341 | 281 | A>D | ACADVLD [UniProt] | Yes | UniProt |
|
rs2071268683 RCV001318717 |
282 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513135 RCV001807006 CA285294 VAR_000342 RCV000020081 RCV000077925 rs113994167 |
283 | V>A | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001552986 rs201509063 CA8337868 RCV001200695 |
285 | E>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001200802 rs2071269046 |
286 | R>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555528386 RCV000625573 |
288 | F>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000180450 RCV001200696 CA247926 rs778514103 |
289 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000989693 CA8337873 rs200788251 CA397723849 RCV000489455 RCV000408960 |
289 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001075886 RCV001075887 RCV001814268 RCV001873444 rs886044671 |
290 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA287437112 VAR_000343 rs866464446 |
290 | G>D | ACADVLD [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV001200803 RCV000404620 rs886044671 |
291 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA312257 RCV000185715 VAR_000344 RCV000530883 rs200573371 RCV002519570 |
294 | G>E | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001341060 rs1327386820 |
295 | P>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000185736 RCV000169392 rs753108198 |
296 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000409715 rs766192888 RCV001570923 |
296 | P>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000185737 RCV001061118 rs796051914 |
297 | E>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071287310 RCV001200698 |
297 | E>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000412387 rs1057517180 |
298 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771247610 CA8337902 RCV001200782 |
299 | K>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_000345 rs774716484 CA8337903 |
299 | K>N | ACADVLD [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000815341 CA397723924 rs771247610 |
299 | K>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs387906252 RCV000077926 RCV000001694 |
299 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_000346 | 299 | K>del | ACADVLD [UniProt] | Yes | UniProt |
|
rs2071288305 RCV001075884 |
300 | M>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142765230 RCV001200699 CA287437522 |
300 | M>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1026112888 CA287437521 RCV000665146 |
300 | M>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199738655 RCV001200857 CA8337904 |
301 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2071288448 RCV001200700 |
302 | I>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337905 rs369149696 RCV000689725 RCV000506644 RCV001266827 |
303 | K>E | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1473375424 RCV001814267 CA397723957 RCV001075885 |
304 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2071288883 RCV001063279 |
306 | N>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA287437528 rs866743364 RCV001200701 |
307 | T>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2071289046 RCV001200804 |
309 | E>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000670204 rs764488310 |
311 | F>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337907 rs775669454 RCV001200858 |
314 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000674305 rs1555528469 CA312258 |
315 | V>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000755205 rs147366714 RCV000555764 CA312260 |
316 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs398123095 RCV000706679 VAR_000347 CA220225 RCV000723572 |
317 | V>A | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1567565417 CA397724031 RCV000755776 |
317 | V>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000506254 CA287437583 rs201676770 RCV000529486 |
318 | P>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
CA8337912 rs149467828 RCV000673848 |
319 | S>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8337913 RCV001586040 RCV001200702 rs149467828 |
319 | S>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA397724057 rs568118142 RCV000810374 |
321 | N>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1257648581 CA397724059 RCV001200827 |
322 | V>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1205407134 CA397724088 RCV001305285 |
326 | V>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs947624074 CA287437637 RCV001200828 |
330 | F>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056125 rs2071292084 |
330 | F>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000152738 RCV000694458 rs727503792 CA233432 |
331 | K>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8337922 rs775761275 RCV000390406 |
332 | V>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000410931 rs1057516843 RCV000409885 RCV001841276 |
333 | A>missing | Cardiac arrhythmia Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071292782 RCV001230578 |
333 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001174775 CA285287 rs398123079 RCV000668860 RCV000077898 |
334 | M>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001551430 CA8337925 rs753624994 RCV000311336 |
335 | H>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705209 rs1567565643 |
336 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1431769044 CA397724149 RCV001324101 |
336 | I>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567565656 CA397724155 RCV001575404 RCV000691839 |
337 | L>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1315330884 RCV000674673 |
337 | L>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000489160 RCV001041886 CA287437666 rs956279629 |
338 | N>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001304946 rs2071293900 |
339 | N>Y | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200829 rs934797393 |
340 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555492 RCV000489813 rs934797393 CA287437667 |
340 | G>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064793382 RCV000479965 CA16620600 RCV001200830 |
341 | R>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1356652354 RCV001200831 RCV000727590 CA397724186 |
342 | F>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA397724218 rs1303150138 RCV000685409 |
346 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2071295244 RCV001200805 |
347 | A>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200832 rs2071295317 |
347 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397724234 RCV001200834 rs1227564457 |
349 | A>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001340911 rs1567565733 |
349 | A>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200833 CA397724230 rs1567565733 |
349 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814041 CA397724239 rs1343647718 |
350 | G>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001065958 CA8337928 rs767138639 |
350 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA397724240 RCV001200835 rs1343647718 |
350 | G>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001272782 RCV000756955 rs796051911 CA397724245 |
351 | T>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000507100 rs796051911 CA312262 RCV001200836 |
351 | T>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001200806 rs2071296591 |
352 | M>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071296504 RCV001200837 |
352 | M>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_000348 | 352 | M>V | ACADVLD [UniProt] | Yes | UniProt |
|
RCV001200807 rs1402646371 |
354 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1351976589 RCV001200839 |
355 | I>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1351976589 CA397724272 RCV000813585 |
355 | I>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001200838 rs2071297089 |
355 | I>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053916 rs2071297392 |
356 | I>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001779050 RCV000671665 rs754325237 RCV001540648 |
356 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200650 rs150140386 RCV000544014 RCV001704250 RCV000173615 |
356 | I>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555528508 RCV000667710 |
356 | I>WQVP* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337933 RCV001200112 RCV000652045 rs539029862 |
359 | A>V | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000805643 rs1284063777 CA397724311 |
360 | V>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001126556 rs1331739604 CA397724313 |
361 | D>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_000349 CA312264 RCV000185719 RCV000675110 rs771874163 |
366 | R>C | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs112406105 RCV001075886 RCV000185720 CA312265 VAR_000350 RCV000411732 |
366 | R>H | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1567566228 RCV000756957 RCV002286576 |
368 | Q>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200842 rs776063244 |
368 | Q>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337965 RCV000507714 RCV000726785 rs776063244 RCV000558671 |
368 | Q>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs398123080 RCV002513812 RCV000173951 CA220189 |
369 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000411060 rs1057517416 |
373 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652042 rs758928307 CA312266 |
376 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001348318 rs2071314177 RCV001568489 |
378 | L>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200750 rs1212266005 |
381 | E>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517281 VAR_000351 RCV000409783 |
381 | E>missing | ACADVLD Very long chain acyl-CoA dehydrogenase deficiency [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs1057517281 VAR_000351 |
381 | E>del | ACADVLD [UniProt] | Yes |
UniProt dbSNP |
|
RCV001009268 RCV001385902 rs1281137823 |
382 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16607872 RCV001200751 rs1057523504 RCV000432798 |
382 | K>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000001695 CA251906 VAR_000352 rs118204015 |
382 | K>Q | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs756194870 RCV001200752 CA8337975 |
383 | L>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043789 rs772014118 CA8337977 |
385 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000173952 RCV000668844 CA239438 rs745832866 |
385 | R>W | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001057012 rs1422904205 CA397724478 |
387 | V>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001205724 rs2071316298 |
391 | Y>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071337130 RCV001126557 |
396 | M>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001000184 rs1597533847 CA397724566 |
398 | Y>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200808 rs2071337202 |
398 | Y>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149116708 CA287439257 RCV000666127 |
400 | V>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001200754 rs727503793 |
402 | A>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA233434 rs727503793 RCV001050506 RCV000152739 |
402 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_000353 | 405 | D>H | ACADVLD [UniProt] | Yes | UniProt |
|
rs1384021857 RCV000685865 CA397724619 |
406 | Q>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001779006 CA287439291 RCV001591287 rs904631654 RCV000544920 |
407 | G>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2071338597 RCV001200755 |
408 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs113994169 RCV002514121 RCV000020069 CA312268 |
409 | T>M | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs745355288 CA8338042 RCV001200756 COSM88497 |
412 | Q>H | ovary Very long chain acyl-CoA dehydrogenase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8338045 RCV000537897 rs143172658 RCV001508431 |
413 | I>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597534120 CA397724669 RCV001028002 |
414 | E>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118204018 CA8338046 RCV000668964 |
416 | A>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA251908 RCV000001700 rs118204018 |
416 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2071340219 RCV001228837 |
417 | I>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555528737 CA397724694 RCV000548112 |
418 | S>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200703 rs2071340371 |
418 | S>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706755 CA397724731 rs1451455641 COSM983828 |
423 | S>L | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138834083 RCV003114240 CA220191 RCV000652034 RCV000418569 |
425 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1419478766 CA397724756 RCV000817166 |
426 | A>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1057516519 CA16041872 RCV000412097 |
427 | W>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000755775 rs1567567312 CA397724769 RCV003141736 |
427 | W>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555528745 RCV000673169 |
428 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696893 rs781658827 CA397724790 |
431 | D>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA397724799 rs1597534677 RCV000817615 |
432 | E>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10650018 RCV000400488 rs886053374 |
433 | C>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001814269 rs2071345821 RCV001075887 RCV001200727 |
437 | M>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200798 rs2071345754 |
437 | M>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551302 CA397724846 rs748450834 |
438 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001200809 rs748077880 |
439 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233556 rs2071346311 |
439 | G>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000185723 CA312270 RCV000703664 rs533055438 |
439 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001316134 rs2071346311 |
439 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226404 rs533055438 |
439 | G>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748077880 RCV001200810 RCV000185738 |
440 | M>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000731212 rs1567567440 RCV001200811 |
440 | M>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397724865 rs2309689 RCV000989694 |
441 | G>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000020072 RCV000077903 CA220193 VAR_000354 rs2309689 |
441 | G>D | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2071346777 RCV001200704 |
441 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200705 rs2071347136 |
443 | M>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000673223 RCV000327267 CA10605275 rs886043236 |
443 | M>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000554531 CA397724917 rs1555528779 |
447 | G>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8338088 RCV001200707 rs765346654 |
449 | E>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA220194 RCV000077904 rs398123081 COSM364409 RCV001200706 |
449 | E>Q | lung Very long chain acyl-CoA dehydrogenase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs118204016 RCV001003625 RCV000724571 RCV000001701 VAR_000355 CA251910 |
450 | R>H | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency Rhabdomyolysis ACADVLD [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000409489 rs1057517331 |
453 | R>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs794727113 RCV000174654 RCV000724448 CA274997 |
453 | R>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001200708 rs138058572 |
453 | R>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415274 RCV001091164 RCV001075888 rs138058572 VAR_000356 CA8338089 |
453 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency Myopathy ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200709 rs1419606204 |
454 | D>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000357 rs1419606204 RCV000668005 CA397724952 |
454 | D>N | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA240222 RCV000174652 RCV000696055 rs794727111 COSM437271 |
456 | R>C | Very long chain acyl-CoA dehydrogenase deficiency Variant assessed as Somatic; impact. endometrium breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000174653 rs794727112 COSM983831 VAR_000358 CA240224 RCV000410559 |
456 | R>H | Very long chain acyl-CoA dehydrogenase deficiency Variant assessed as Somatic; impact. endometrium ACADVLD [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000818697 rs1175359422 |
457 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118204017 RCV001731269 CA251907 RCV000001699 VAR_010103 |
458 | F>L | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD; loss of acyl-CoA dehydrogenase activity; Loss of FAD cofactor-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs796051916 RCV000538432 RCV000185739 |
459 | R>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200710 rs766742117 |
459 | R>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751995154 CA397724983 RCV000652030 |
459 | R>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000412089 rs751995154 RCV000414939 RCV002516958 CA312275 RCV000185726 |
459 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases Myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000652041 VAR_000359 RCV000506090 CA312274 rs766742117 |
459 | R>W | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs755432945 CA8338090 RCV001200711 |
461 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2071355499 RCV001286682 |
462 | E>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809103 CA8338091 RCV000522607 rs200366828 VAR_000360 |
463 | G>E | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001200712 rs2071355667 |
463 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000174651 RCV002286566 rs398123082 |
464 | T>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000531461 rs1555528796 CA397725017 |
464 | T>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200757 rs1555528796 |
464 | T>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000169627 VAR_000361 CA220197 RCV000790745 rs398123083 |
469 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency Variant assessed as Somatic; impact. ACADVLD [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_000362 rs113994170 CA341519 |
469 | R>W | ACADVLD [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs2071356603 RCV001207427 |
470 | L>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071357482 RCV001231630 |
476 | G>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071357577 RCV001200758 |
477 | C>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397725093 rs1555528803 RCV000673535 |
477 | C>Y | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8338099 RCV000494132 RCV002298622 RCV001200759 rs775537775 |
478 | M>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002509626 rs771117714 RCV001200760 CA8338121 |
489 | S>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
rs759775666 CA8338123 RCV000554101 VAR_010104 |
490 | A>P | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD; decreased association with mitochondrial inner membrane; may affect substrate specificity, possibly reducing the affinity for long-chain acyl-CoA substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000693646 rs764943140 CA287439965 |
499 | G>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003165418 RCV000723372 RCV000352142 CA312277 rs779901247 |
502 | L>V | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001059445 rs762619071 |
502 | L>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_000363 | 502 | L>P | ACADVLD; decreased association with mitochondrial inner membrane; decreased specific activity towards several substrates in vitro [UniProt] | Yes | UniProt |
|
RCV001041821 rs1214222702 |
503 | G>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749332311 RCV001348036 CA8338138 |
508 | Q>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA397725319 rs200771970 RCV000669087 |
511 | R>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200771970 RCV000595069 CA312279 RCV000410771 |
511 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs771025937 CA8338139 RCV001000161 |
511 | R>W | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2071371983 RCV001200785 |
512 | R>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808814 CA8338149 RCV002537298 rs371316167 |
512 | R>W | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001200761 rs766003820 |
513 | A>E | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766003820 RCV001286597 |
513 | A>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8338152 RCV001274804 rs374507980 RCV000508272 |
518 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200844 rs2071373150 |
520 | S>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8338154 RCV000725179 rs139425622 RCV002519124 RCV000370922 RCV000272698 |
523 | G>R | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000185729 RCV000652029 RCV001192883 rs146379816 CA233436 RCV000208321 |
531 | R>W | Very long chain acyl-CoA dehydrogenase deficiency Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000477936 rs1060499596 |
532 | S>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060748 rs1453818885 CA397725446 |
532 | S>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000020074 RCV000077907 rs2230180 VAR_010105 CA285289 |
534 | E>K | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200783 rs201350598 CA8338191 RCV000224776 |
538 | R>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201350598 RCV000652027 CA8338192 |
538 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8338190 rs192904909 RCV001559434 RCV001200777 |
538 | R>W | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001200762 rs781613690 RCV001731917 CA397725496 |
539 | A>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001785638 rs1131691553 RCV000493543 |
544 | A>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071384107 RCV001246701 |
547 | V>M | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071384243 RCV001200763 |
548 | E>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555528957 CA397725580 RCV000545827 |
553 | K>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397725598 rs1231882461 RCV001233819 |
555 | K>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs866424446 RCV001200764 |
556 | K>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071393587 RCV001200787 |
562 | Q>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA285290 rs398123084 RCV000813614 RCV000259048 |
567 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000203523 rs864321651 CA279923 |
567 | R>W | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001200765 rs2071394443 |
570 | D>Y | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000077910 rs398123085 CA220198 RCV001200766 CA397725710 |
571 | G>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1555529004 RCV000670489 |
572 | A>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071395312 RCV001200788 |
575 | L>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413684 rs1057518411 RCV003168603 |
577 | A>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199839 rs2071395559 |
578 | M>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA220200 RCV000669184 RCV000723595 RCV001804831 rs375806217 |
578 | M>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200713 rs1466587776 |
582 | L>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665031 rs1085307648 CA397725788 |
583 | S>L | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA397725790 VAR_083892 RCV000675075 RCV000489971 rs1085307648 |
583 | S>W | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD; Loss of homodimerization; loss of localization to mitochondrial inner membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs754123613 RCV001200714 |
584 | R>T | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002518985 RCV000383480 rs374729641 RCV000264459 CA8338262 |
585 | A>V | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000411935 rs1057516226 |
588 | S>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200715 rs2071402000 |
588 | S>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214979 rs780655964 CA8338265 |
588 | S>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567569494 RCV000701465 CA397725834 |
589 | L>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000673234 rs1555529048 |
590 | S>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200716 rs2071403522 |
600 | K>N | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201462718 RCV002275021 RCV001047994 CA8338273 RCV000414590 |
601 | M>I | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000666299 rs796051917 RCV000185740 |
602 | L>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_000364 | 602 | L>I | ACADVLD [UniProt] | Yes | UniProt |
|
RCV000483312 rs1555529088 RCV001069851 |
603 | C>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200717 rs2071403861 |
603 | C>R | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200718 rs2071404097 |
605 | T>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200790 rs2071404265 |
606 | W>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200117742 RCV000534253 CA8338274 |
607 | C>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001200778 CA10581272 rs200117742 RCV000224548 |
607 | C>Y | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA287441214 rs908625615 RCV001200719 |
609 | E>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000185732 RCV000670696 CA220202 rs398123086 |
609 | E>K | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001200720 rs1179668719 CA397725992 |
610 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2071408325 RCV001246700 |
611 | A>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374898424 RCV000527141 CA8338294 |
612 | A>G | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8338295 rs534647044 RCV000756953 RCV001060887 |
613 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000185733 rs118204014 VAR_000365 CA251903 RCV000001690 |
613 | R>W | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000537328 RCV000438504 rs1057520507 CA16608642 |
615 | R>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA090895 RCV000176020 RCV002307434 rs148584617 RCV000193309 VAR_010106 |
615 | R>Q | Very long chain acyl-CoA dehydrogenase deficiency ACADVLD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372886650 RCV001348858 |
616 | E>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200721 CA8338299 rs752227163 |
617 | G>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs965557488 CA287441355 RCV001200722 |
620 | A>T | Variant assessed as Somatic; 0.0 impact. Very long chain acyl-CoA dehydrogenase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555529172 RCV000665971 CA397726055 |
622 | Q>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597541044 CA397726069 RCV001000834 |
624 | D>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8338304 RCV000794763 rs377044444 |
625 | P>A | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002293468 RCV000652044 CA397726083 rs1555529186 |
626 | W>* | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397726092 rs931018661 RCV001052857 |
627 | Q>H | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001001435 rs1597541142 |
628 | Q>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071412066 RCV001200791 RCV001266826 |
631 | Y>missing | Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525816 CA8338308 RCV002248780 RCV001532300 rs151254520 |
632 | R>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200792 rs2071412513 |
633 | N>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071412683 RCV001200723 |
634 | F>C | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000673345 rs1555529204 |
637 | I>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071413180 RCV001339031 |
638 | S>missing | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397726187 rs1452402269 RCV000668695 |
641 | L>F | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2071413884 RCV001279288 |
641 | L>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397726201 RCV000786080 RCV000652032 rs1208010882 |
643 | E>D | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001200724 rs774762384 |
644 | R>P | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768878569 RCV001200725 CA287441474 |
646 | G>V | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001326035 rs1417091241 |
651 | N>K | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200779 CA287441508 rs377659973 |
655 | F>Y | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001200793 rs2071416769 |
656 | F>S | Very long chain acyl-CoA dehydrogenase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8337509 rs780877125 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1009656644 CA287433569 |
4 | A>T | No |
ClinGen Ensembl |
|
|
rs1019684161 CA287433585 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs747672165 CA8337510 |
5 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1427232700 CA397721926 |
6 | M>I | No |
ClinGen TOPMed |
|
|
rs1165009307 CA397721923 |
6 | M>R | No |
ClinGen TOPMed |
|
|
rs1165009307 CA397721922 |
6 | M>T | No |
ClinGen TOPMed |
|
|
CA287433591 rs567176096 |
8 | A>S | No |
ClinGen Ensembl |
|
|
rs770590027 CA287433597 |
9 | S>T | No |
ClinGen Ensembl |
|
|
rs1198265143 CA397721959 |
12 | R>Q | No |
ClinGen gnomAD |
|
|
CA8337512 rs769290349 |
12 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8337513 rs529443594 |
13 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763471070 CA8337514 |
16 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA397721990 rs1200908682 |
18 | G>R | No |
ClinGen gnomAD |
|
|
COSM1243059 CA8337518 rs144036152 |
19 | G>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8337517 rs144036152 |
19 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8337520 rs764285088 |
20 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8337521 rs753922855 |
21 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs727503788 CA8337542 |
22 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs727503788 CA397722027 |
22 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766286327 CA8337543 |
23 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397722028 rs766286327 |
23 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276666051 CA397722033 |
24 | L>F | No |
ClinGen gnomAD |
|
|
rs905475056 CA287433843 |
26 | A>G | No |
ClinGen Ensembl |
|
|
CA397722066 rs1292389593 |
30 | Q>* | No |
ClinGen gnomAD |
|
|
CA397722067 rs1292389593 |
30 | Q>K | No |
ClinGen gnomAD |
|
|
CA397722074 rs1487946294 |
31 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1213778974 CA397722080 |
32 | R>W | No |
ClinGen gnomAD |
|
|
CA397722085 rs1485960014 |
33 | P>S | No |
ClinGen gnomAD |
|
|
rs1347049512 CA397722111 |
38 | R>Q | No |
ClinGen gnomAD |
|
|
CA397722121 rs1430338838 |
40 | Y>H | No |
ClinGen TOPMed |
|
|
rs1567560112 CA397722131 |
41 | A>G | No |
ClinGen Ensembl |
|
|
rs1471931640 CA397722139 |
43 | G>S | No |
ClinGen TOPMed |
|
|
rs573810960 CA287433955 |
44 | A>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1439614490 CA397722155 |
46 | Q>E | No |
ClinGen TOPMed |
|
|
rs775956800 CA397722160 |
46 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8337552 rs772413709 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs769865745 CA8337575 |
48 | A>S | No |
ClinGen ExAC |
|
|
rs769865745 CA397722177 |
48 | A>T | No |
ClinGen ExAC |
|
|
rs1344223701 CA397722185 |
49 | L>R | No |
ClinGen TOPMed |
|
|
rs1014076291 CA287434193 |
54 | S>A | No |
ClinGen gnomAD |
|
|
CA397722249 rs1346854249 |
59 | A>T | No |
ClinGen gnomAD |
|
|
CA8337579 rs775398187 |
61 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1228825102 CA397722276 |
63 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs979893163 CA287434268 |
64 | K>T | No |
ClinGen Ensembl |
|
| rs771055189 | 65 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287434286 rs142745084 |
66 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765432568 CA397722297 |
67 | K>Q | No |
ClinGen gnomAD |
|
|
CA397722304 rs1339994445 |
68 | A>T | No |
ClinGen gnomAD |
|
|
CA397722307 rs1431248484 |
68 | A>V | No |
ClinGen Ensembl |
|
|
rs1176862546 CA397722334 |
70 | S>F | No |
ClinGen TOPMed |
|
|
rs776453042 CA8337601 |
71 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA397722357 rs1176184839 |
74 | A>T | No |
ClinGen TOPMed |
|
|
CA397722362 rs1470149388 |
74 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1425254452 CA397722363 |
75 | V>M | No |
ClinGen gnomAD |
|
|
rs370156298 CA287434460 |
76 | G>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397722369 CA8337603 rs370156298 |
76 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1201344342 CA397722373 |
77 | M>V | No |
ClinGen TOPMed |
|
|
CA397722384 rs1567561038 |
78 | F>Y | No |
ClinGen Ensembl |
|
|
CA8337605 rs762599719 |
79 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1460278489 CA397722399 |
80 | G>A | No |
ClinGen TOPMed |
|
|
CA8337606 rs766001030 |
80 | G>R | No |
ClinGen ExAC |
|
|
CA397722409 rs1262964096 |
82 | L>I | No |
ClinGen TOPMed |
|
|
rs1339560413 CA397722416 |
83 | T>A | No |
ClinGen gnomAD |
|
|
CA8337608 rs755575335 |
84 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8337609 rs781758731 |
85 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs781758731 CA397722426 |
85 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA397722437 rs1305471933 |
86 | Q>R | No |
ClinGen TOPMed |
|
|
CA8337613 rs147357106 |
88 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768632138 CA8337617 |
93 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8337639 rs769723013 |
95 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA397722501 rs1393667387 |
95 | N>S | No |
ClinGen gnomAD |
|
|
CA397722509 rs1221825315 |
96 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201498083 CA287434795 |
97 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA397722518 rs1226374502 |
98 | Q>E | No |
ClinGen gnomAD |
|
|
CA8337644 rs774141572 |
100 | Q>L | No |
ClinGen ExAC gnomAD |
|
| rs786204713 | 100 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759197049 CA8337645 |
101 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597520296 CA397722557 |
104 | E>* | No |
ClinGen Ensembl |
|
|
CA397722571 rs1322311502 |
106 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA397722570 rs1322311502 |
106 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV000596994 rs1555527815 CA397722591 |
109 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8337651 rs757608507 |
110 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8337652 rs370929055 |
111 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs958166043 CA8337653 |
111 | R>H | No |
ClinGen TOPMed |
|
|
CA397722604 COSM983822 rs1168985640 |
112 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 112 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397722612 rs1567561598 |
113 | F>I | No |
ClinGen Ensembl |
|
|
rs1567561831 CA397722701 |
115 | E>A | No |
ClinGen Ensembl |
|
|
CA397722705 rs1189562565 |
116 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs543878973 CA8337684 |
118 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397722731 rs1185963216 |
120 | A>T | No |
ClinGen gnomAD |
|
|
CA397722743 rs768219726 |
121 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415225430 CA397722741 |
121 | K>R | No |
ClinGen gnomAD |
|
|
rs374524648 CA397722758 |
123 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397722761 rs560912181 |
124 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8337689 rs560912181 |
124 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8337690 rs770247114 |
124 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773608087 CA8337691 |
127 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8337692 rs763355567 |
128 | V>A | No |
ClinGen ExAC |
|
| rs387906251 | 130 | E>missing | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372574070 CA397722798 |
130 | E>K | No |
ClinGen gnomAD |
|
|
rs766575103 CA8337693 |
131 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA397722816 rs1317083458 |
132 | T>S | No |
ClinGen gnomAD |
|
|
rs759618804 CA8337695 |
134 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397722827 rs759618804 |
134 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287435334 rs1001412868 |
135 | G>C | No |
ClinGen TOPMed |
|
|
CA397722835 rs1322135430 |
135 | G>D | No |
ClinGen gnomAD |
|
|
rs1460246415 CA397722840 |
136 | L>F | No |
ClinGen gnomAD |
|
|
rs1206020852 CA397722849 |
137 | K>M | No |
ClinGen gnomAD |
|
|
rs1201166299 CA397722852 |
138 | E>K | No |
ClinGen TOPMed |
|
|
rs1417335208 CA397722857 |
138 | E>V | No |
ClinGen TOPMed |
|
|
rs1386263962 CA397722861 |
139 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397722871 rs1175506610 |
141 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752781013 CA8337698 |
141 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1000495978 CA287435413 |
145 | Q>H | No |
ClinGen TOPMed |
|
|
CA287435431 rs892944229 |
148 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs892944229 CA397722909 |
148 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1470817106 CA397722912 |
148 | S>T | No |
ClinGen gnomAD |
|
|
CA397722934 rs1555527943 |
152 | G>S | No |
ClinGen Ensembl |
|
|
rs894284973 CA287435466 |
153 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA397722952 rs1299324717 |
155 | L>F | No |
ClinGen gnomAD |
|
|
CA397722978 rs779650201 |
159 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779650201 CA8337703 |
159 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs371910495 CA8337739 |
160 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1381785963 CA397722996 |
160 | Y>H | No |
ClinGen TOPMed |
|
|
CA8337741 rs375284481 |
161 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397723018 CA397723019 rs1240846419 |
164 | V>L | No |
ClinGen TOPMed |
|
|
CA397723026 rs1248423287 |
165 | E>A | No |
ClinGen gnomAD |
|
|
rs369560930 CA8337750 |
174 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775941142 CA8337752 |
175 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287436325 rs924345938 |
175 | G>S | No |
ClinGen TOPMed |
|
|
rs1300720825 CA397723093 |
176 | I>V | No |
ClinGen TOPMed |
|
|
rs747257804 CA8337753 |
177 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8337754 rs376092908 |
178 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348732355 CA397723116 |
180 | A>V | No |
ClinGen gnomAD |
|
|
CA397723121 rs1210823604 |
181 | H>Y | No |
ClinGen gnomAD |
|
|
rs1417993432 CA397723148 |
184 | I>T | No |
ClinGen TOPMed |
|
|
rs1555528181 RCV000521940 CA397723152 |
185 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs545215807 CA8337757 |
185 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA287436439 rs565087370 |
189 | I>L | No |
ClinGen 1000Genomes |
|
|
RCV000755773 rs1567563311 CA397723180 |
189 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8337759 rs530914800 |
191 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555528188 RCV000498991 |
193 | G>missing | No |
ClinVar dbSNP |
|
|
CA8337762 rs753444680 |
194 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 195 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469588148 CA397723218 |
196 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 197 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530082418 CA287436451 |
198 | K>T | No |
ClinGen 1000Genomes |
|
|
CA397723238 rs1305511499 |
199 | E>Q | No |
ClinGen TOPMed |
|
|
rs1064796104 RCV000487087 |
201 | Y>missing | No |
ClinVar dbSNP |
|
|
CA397723257 rs1597525536 |
201 | Y>S | No |
ClinGen Ensembl |
|
|
CA8337767 rs780597998 |
204 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA397723277 rs747347662 |
205 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8337768 rs747347662 |
205 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768975918 CA8337770 |
207 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA397723339 rs772055899 |
209 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772055899 CA8337797 |
209 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8337800 rs761405004 |
215 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597526924 CA397723387 |
217 | T>P | No |
ClinGen Ensembl |
|
|
CA397723401 rs772898391 |
219 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8337803 rs772898391 |
219 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs767063791 CA8337805 |
221 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1293209621 CA397723438 |
225 | A>T | No |
ClinGen gnomAD |
|
|
CA8337815 rs746944448 |
232 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287436852 rs35245783 |
233 | V>E | No |
ClinGen Ensembl |
|
|
rs777684163 CA8337816 |
233 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA397723503 rs1341605898 |
236 | P>S | No |
ClinGen TOPMed |
|
|
CA397723517 rs1385214678 |
238 | G>R | No |
ClinGen gnomAD |
|
|
rs886044100 CA10606348 RCV000367019 |
238 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA397723535 rs1359923181 |
241 | Y>H | No |
ClinGen TOPMed |
|
|
rs1567564195 CA397723558 |
244 | N>K | No |
ClinGen Ensembl |
|
|
CA397723556 rs1390552397 |
244 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143233413 CA397723624 RCV000508149 |
252 | N>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA397723634 rs1452949965 |
254 | G>D | No |
ClinGen TOPMed |
|
|
CA397723647 rs1292515364 |
256 | A>V | No |
ClinGen TOPMed |
|
|
rs1175371903 CA397723648 |
257 | D>N | No |
ClinGen gnomAD |
|
|
rs398123093 RCV000077924 CA220221 |
263 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 265 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397723709 rs1299153260 |
266 | P>A | No |
ClinGen Ensembl |
|
|
CA287437023 rs11548305 |
267 | V>I | No |
ClinGen Ensembl |
|
|
CA397723720 rs1365907825 |
268 | T>A | No |
ClinGen gnomAD |
|
|
rs770761608 CA8337856 |
269 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA397723736 rs1203047984 |
270 | P>R | No |
ClinGen gnomAD |
|
|
CA397723752 rs1274312304 |
273 | G>R | No |
ClinGen TOPMed |
|
|
CA397723754 rs150149784 |
273 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397723757 rs1245251261 |
274 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8337858 rs771624063 |
274 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397723758 rs1245251261 |
274 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8337861 rs769122458 |
275 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761199646 CA8337860 |
275 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208459885 CA397723773 |
277 | E>* | No |
ClinGen Ensembl |
|
|
CA8337863 rs1208459885 |
277 | E>K | No |
ClinGen Ensembl |
|
| rs796051913 | 277 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762152455 CA8337865 |
278 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8337866 rs765445775 |
283 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8337867 rs202216257 |
285 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751556332 CA8337869 |
286 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397723830 rs1239346965 |
286 | R>K | No |
ClinGen TOPMed |
|
|
rs1342933408 CA397723840 |
287 | G>V | No |
ClinGen gnomAD |
|
|
rs764107209 CA8337871 |
288 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209359519 CA397723841 |
288 | F>I | No |
ClinGen gnomAD |
|
|
CA397723858 rs1377299567 |
291 | I>V | No |
ClinGen TOPMed |
|
|
rs1447499516 CA397723869 |
292 | T>I | No |
ClinGen gnomAD |
|
|
rs1327386820 CA397723894 |
295 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 296 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287437473 rs993854087 |
296 | P>S | No |
ClinGen TOPMed |
|
|
rs773669084 CA8337900 |
298 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs749598830 CA8337901 |
298 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268341462 CA397723948 |
303 | K>R | No |
ClinGen gnomAD |
|
|
rs950516454 CA287437524 |
306 | N>D | No |
ClinGen Ensembl |
|
|
CA312292 rs1555528466 |
309 | E>D | No |
ClinGen Ensembl |
|
|
rs981896874 CA287437543 |
309 | E>K | No |
ClinGen gnomAD |
|
|
rs1331004488 CA397724000 |
311 | F>L | No |
ClinGen gnomAD |
|
|
rs1597530151 CA397723998 |
311 | F>S | No |
ClinGen Ensembl |
|
|
CA397724030 rs147366714 |
316 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141756824 CA8337909 |
316 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762653370 CA8337910 |
318 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752121435 CA8337915 |
320 | E>Q | No |
ClinGen ExAC |
|
|
rs778134085 CA397724066 |
323 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397724082 rs1271862153 |
325 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397724084 rs771210493 |
326 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771210493 CA8337919 |
326 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397724119 rs727503792 |
331 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369160160 CA287437650 |
332 | V>A | No |
ClinGen ESP |
|
|
rs1487767890 CA397724135 |
334 | M>V | No |
ClinGen TOPMed |
|
|
CA8337924 rs773030006 |
335 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431769044 CA397724150 |
336 | I>T | No |
ClinGen gnomAD |
|
|
RCV000756956 rs146369181 CA8337926 |
336 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
|
rs914529793 CA287437670 |
345 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA397724208 rs914529793 |
345 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA397724238 rs1343647718 |
350 | G>D | No |
ClinGen gnomAD |
|
|
CA397724263 rs1487315614 |
354 | G>R | No |
ClinGen gnomAD |
|
|
CA658824840 rs1555528508 |
356 | I>W | No |
ClinGen Ensembl |
|
|
CA8337932 rs146589640 |
358 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1051701 VAR_011990 CA287437684 |
359 | A>S | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA397724318 rs1214845060 |
361 | D>A | No |
ClinGen TOPMed |
|
|
CA397724315 rs1331739604 |
361 | D>Y | No |
ClinGen gnomAD |
|
|
CA397724331 rs1407785671 |
363 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287437941 rs988045058 |
365 | N>D | No |
ClinGen gnomAD |
|
|
CA8337963 rs771874163 |
366 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8337964 rs112406105 |
366 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA287437952 rs1048617518 COSM158840 |
368 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs145701525 CA8337966 |
371 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175247614 CA397724387 |
372 | K>T | No |
ClinGen gnomAD |
|
| rs778988790 | 373 | I>N | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750981051 CA8337969 |
374 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA397724408 rs1312972471 |
375 | N>S | No |
ClinGen gnomAD |
|
|
rs1352687733 CA397724421 |
377 | G>W | No |
ClinGen gnomAD |
|
|
rs751924167 CA8337971 |
379 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781467053 CA8337973 |
380 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397724444 rs1212266005 |
381 | E>Q | No |
ClinGen gnomAD |
|
|
CA397724457 rs756194870 |
383 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs777778829 CA8337976 |
383 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287438009 rs912017626 |
384 | A>P | No |
ClinGen Ensembl |
|
|
rs1422904205 CA397724479 |
387 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA397724477 rs1422904205 |
387 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA397724487 rs1434841815 |
388 | M>T | No |
ClinGen gnomAD |
|
|
CA8337978 rs775196157 |
390 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA397724512 rs746806439 |
392 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs746806439 CA397724513 CA8337979 |
392 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs199840831 CA8337980 |
393 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767552054 CA397724574 CA8338036 |
399 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8338035 rs754994326 |
399 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597533893 CA397724579 |
400 | V>G | No |
ClinGen Ensembl |
|
|
rs149116708 CA397724576 |
400 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1043527805 CA287439276 |
404 | M>V | No |
ClinGen TOPMed |
|
|
rs755981642 CA8338038 |
405 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1350129860 CA397724634 |
408 | A>V | No |
ClinGen gnomAD |
|
|
CA8338040 rs113994169 |
409 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397724648 rs1230956854 |
411 | F>L | No |
ClinGen gnomAD |
|
|
rs1230956854 CA397724649 |
411 | F>V | No |
ClinGen gnomAD |
|
|
rs201606472 CA397724663 |
413 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8338044 rs775980475 |
413 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs201606472 CA8338043 |
413 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs894984106 CA287439363 |
421 | F>L | No |
ClinGen Ensembl |
|
|
rs762137401 CA8338047 |
422 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA397724729 rs1451455641 |
423 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1373225191 CA397724778 |
429 | V>M | No |
ClinGen TOPMed |
|
|
CA8338062 rs781658827 |
431 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA397724823 rs1187934147 |
435 | Q>R | No |
ClinGen gnomAD |
|
|
CA397724842 rs1430426907 |
437 | M>I | No |
ClinGen gnomAD |
|
|
rs748450834 CA8338064 |
438 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA397724843 rs1194129121 |
438 | G>R | No |
ClinGen gnomAD |
|
| rs748077880 | 439 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886043236 CA397724879 |
443 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759552738 CA8338085 |
445 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8338087 rs776561181 |
446 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1255480316 CA397724912 |
446 | P>R | No |
ClinGen gnomAD |
|
|
rs398123081 CA312272 |
449 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM983830 rs767849841 CA287439664 |
450 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA397724971 rs1392710608 |
457 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755685700 CA8338093 |
467 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8338094 rs748964823 |
471 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757049416 CA8338095 |
471 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 473 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8338097 rs185215340 |
473 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA397725078 rs1567567894 |
475 | Q>* | No |
ClinGen Ensembl |
|
|
rs1597535735 CA397725082 |
475 | Q>H | No |
ClinGen Ensembl |
|
|
rs1251092614 CA397725080 |
475 | Q>R | No |
ClinGen gnomAD |
|
|
CA397725098 rs1330307154 |
478 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 478 | M>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397725138 rs746978893 |
481 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs746978893 CA8338117 |
481 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs769694470 CA8338118 |
484 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 485 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773274279 CA8338119 |
486 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773274279 CA397725170 |
486 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767941627 CA8338124 |
490 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA397725231 rs1161498537 |
496 | G>W | No |
ClinGen TOPMed |
|
|
rs753377608 CA397725247 |
498 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753377608 CA8338128 COSM983832 |
498 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA397725251 rs764943140 |
499 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764943140 CA8338131 |
499 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750111958 CA8338132 |
500 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs758069646 CA8338133 |
501 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs376795010 CA8338135 |
504 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217344032 CA397725291 |
507 | K>E | No |
ClinGen gnomAD |
|
|
CA397725303 rs1242281823 |
508 | Q>R | No |
ClinGen gnomAD |
|
|
CA397725329 rs1363658463 |
512 | R>Q | No |
ClinGen gnomAD |
|
|
rs766003820 CA8338150 |
513 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA397725337 CA8338151 rs370282954 |
514 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 517 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287440216 rs926496616 |
517 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781063725 CA8338153 |
519 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397725384 rs1327944514 |
522 | S>G | No |
ClinGen gnomAD |
|
|
CA397725389 rs371654348 |
522 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8338155 rs139425622 |
523 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8338159 rs780182404 |
527 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772316982 CA8338158 |
527 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769166793 CA8338161 |
528 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs563667819 CA8338162 |
530 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA397725442 rs772763960 |
531 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8338164 rs772763960 |
531 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453818885 CA397725448 |
532 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA397725450 rs1597537310 |
532 | S>R | No |
ClinGen Ensembl |
|
|
CA397725482 rs1204657194 |
536 | A>E | No |
ClinGen gnomAD |
|
|
rs1410679446 CA397725485 |
537 | V>I | No |
ClinGen TOPMed |
|
|
RCV000522938 rs1555528937 |
538 | R>missing | No |
ClinVar dbSNP |
|
|
CA8338194 rs781613690 |
539 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs865963860 CA287440525 |
540 | L>M | No |
ClinGen gnomAD |
|
|
CA397725498 rs865963860 |
540 | L>V | No |
ClinGen gnomAD |
|
|
rs1350421513 CA397725504 |
541 | E>K | No |
ClinGen gnomAD |
|
|
CA287440532 rs1027833102 |
542 | Q>* | No |
ClinGen Ensembl |
|
|
CA287440542 rs868742039 |
544 | A>V | No |
ClinGen Ensembl |
|
|
CA8338197 rs756464030 |
548 | E>K | No |
ClinGen ExAC |
|
|
CA8338198 rs778289879 |
552 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1433810416 CA397725590 |
554 | H>P | No |
ClinGen TOPMed |
|
|
rs771538229 CA8338200 |
554 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749768625 CA8338199 |
554 | H>Y | No |
ClinGen ExAC |
|
|
CA397725608 rs1295605212 |
556 | K>N | No |
ClinGen gnomAD |
|
|
CA8338201 rs773842959 |
557 | G>E | No |
ClinGen ExAC TOPMed |
|
|
rs1256129137 CA397725619 |
558 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1238338378 CA397725616 |
558 | I>V | No |
ClinGen gnomAD |
|
|
rs1259024123 CA397725624 |
559 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs370292684 CA8338232 |
562 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397725658 rs1236745245 |
562 | Q>R | No |
ClinGen gnomAD |
|
|
rs1458165237 CA397725700 |
569 | A>G | No |
ClinGen gnomAD |
|
|
CA397725712 rs1455222340 |
571 | G>E | No |
ClinGen gnomAD |
|
|
CA8338234 rs372452333 |
573 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935176246 CA287440884 |
573 | I>V | No |
ClinGen Ensembl |
|
|
rs1428229026 CA397725729 |
574 | D>G | No |
ClinGen gnomAD |
|
|
rs1038337516 CA287440886 |
574 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA397725761 rs1402989027 |
579 | V>M | No |
ClinGen gnomAD |
|
|
CA397725779 rs1466587776 |
582 | L>I | No |
ClinGen gnomAD |
|
|
rs754123613 CA8338236 |
584 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8338263 rs751002045 |
586 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs754547583 CA8338264 |
587 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1368608793 CA397725841 |
590 | S>I | No |
ClinGen TOPMed |
|
|
CA8338268 rs777702890 |
593 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567569517 CA397725863 |
593 | H>R | No |
ClinGen Ensembl |
|
|
CA397725860 rs1405392965 |
593 | H>Y | No |
ClinGen TOPMed |
|
|
CA8338269 rs749147508 |
595 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770964020 CA8338270 |
595 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397725889 rs1451890121 |
598 | H>D | No |
ClinGen TOPMed |
|
|
rs1361423686 CA397725946 |
605 | T>N | No |
ClinGen gnomAD |
|
|
rs762020897 CA8338275 |
608 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs398123086 CA397725970 |
609 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8338293 rs748274785 |
611 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs374898424 CA397726003 |
612 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397726015 rs148584617 |
615 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760081772 CA8338297 |
616 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1597540931 CA397726028 |
617 | G>D | No |
ClinGen Ensembl |
|
|
rs1371337244 CA397726033 |
618 | M>T | No |
ClinGen gnomAD |
|
|
CA397726058 rs1412505801 |
622 | Q>R | No |
ClinGen TOPMed |
|
|
CA287441364 rs13383 VAR_011991 |
623 | S>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA397726063 rs1394155627 |
623 | S>P | No |
ClinGen gnomAD |
|
|
CA397726068 rs1597541044 |
624 | D>N | No |
ClinGen Ensembl |
|
|
rs377044444 CA8338303 |
625 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287441389 rs377044444 |
625 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393062056 CA397726082 |
626 | W>* | No |
ClinGen gnomAD |
|
|
CA8338305 rs750245201 |
626 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8338306 rs371091547 |
628 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8338309 rs769885223 |
632 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA287441456 rs940955342 |
634 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs374068985 CA8338310 |
634 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259303157 CA397726143 |
635 | K>Q | No |
ClinGen gnomAD |
|
|
CA397726160 rs1208147546 |
637 | I>N | No |
ClinGen gnomAD |
|
|
CA397726161 rs1208147546 |
637 | I>T | No |
ClinGen gnomAD |
|
|
CA397726169 rs1210477732 |
638 | S>F | No |
ClinGen TOPMed |
|
|
CA287441457 rs771122302 |
639 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8338312 rs771122302 |
639 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA397726173 rs1444097230 |
639 | K>R | No |
ClinGen TOPMed |
|
|
rs1567570048 CA397726181 |
640 | A>V | No |
ClinGen Ensembl |
|
|
rs1282005622 CA397726193 |
642 | V>A | No |
ClinGen TOPMed |
|
|
rs774762384 CA8338313 |
644 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024901354 CA287441461 |
644 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA397726209 rs1231137466 |
645 | G>D | No |
ClinGen TOPMed |
|
|
CA8338314 rs759864218 |
647 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 649 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8338315 rs772594324 |
649 | T>N | No |
ClinGen ExAC TOPMed |
|
|
CA397726254 rs1567570119 COSM217142 |
652 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs776166014 CA8338316 |
653 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA287441496 rs983320737 |
653 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 654 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P49748
[MIM: 201475]: Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes
Without disease ID
- An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes
5 regional properties for P49748
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Acyl-CoA dehydrogenase, conserved site | 215 - 227 | IPR006089-1 |
| conserved_site | Acyl-CoA dehydrogenase, conserved site | 435 - 454 | IPR006089-2 |
| domain | Acyl-CoA oxidase/dehydrogenase, middle domain | 213 - 315 | IPR006091 |
| domain | Acyl-CoA dehydrogenase/oxidase C-terminal | 327 - 473 | IPR009075 |
| domain | Acyl-CoA dehydrogenase/oxidase, N-terminal | 103 - 209 | IPR013786 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.8.9 | With a flavin as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| extrinsic component of mitochondrial inner membrane | The component of mitochondrial inner membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| acyl-CoA dehydrogenase activity | Catalysis of the reaction: acyl-CoA + oxidized |
| fatty-acyl-CoA binding | Binding to a fatty-acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with a fatty acyl group. |
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
| identical protein binding | Binding to an identical protein or proteins. |
| long-chain-acyl-CoA dehydrogenase activity | Catalysis of the reaction: a long-chain 2,3-saturated fatty acyl-CoA + H+ + oxidized = a long-chain (2E)-enoyl-CoA + reduced |
| very-long-chain-acyl-CoA dehydrogenase activity | Catalysis of the reaction: a very-long-chain 2,3-saturated fatty acyl-CoA + H+ + oxidized = a very-long-chain (2E)-enoyl-CoA + reduced |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| energy derivation by oxidation of organic compounds | The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. |
| epithelial cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. |
| fatty acid beta-oxidation using acyl-CoA dehydrogenase | A fatty acid beta-oxidation pathway in which the initial step of each oxidation cycle, which converts an acyl-CoA to a trans-2-enoyl-CoA, is catalyzed by acyl-CoA dehydrogenase; the electrons removed by oxidation pass through the respiratory chain to oxygen and leave H2O as the product. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and ends when only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| negative regulation of fatty acid biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. |
| negative regulation of fatty acid oxidation | Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation. |
| regulation of cholesterol metabolic process | Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| response to cold | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism. |
| temperature homeostasis | A homeostatic process in which an organism modulates its internal body temperature. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48818 | ACADVL | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | Bos taurus (Bovine) | PR |
| P16219 | ACADS | Short-chain specific acyl-CoA dehydrogenase, mitochondrial | Homo sapiens (Human) | PR |
| P50544 | Acadvl | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | Mus musculus (Mouse) | PR |
| P45953 | Acadvl | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQAARMAASL | GRQLLRLGGG | SSRLTALLGQ | PRPGPARRPY | AGGAAQLALD | KSDSHPSDAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TRKKPAKAES | KSFAVGMFKG | QLTTDQVFPY | PSVLNEEQTQ | FLKELVEPVS | RFFEEVNDPA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNDALEMVEE | TTWQGLKELG | AFGLQVPSEL | GGVGLCNTQY | ARLVEIVGMH | DLGVGITLGA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HQSIGFKGIL | LFGTKAQKEK | YLPKLASGET | VAAFCLTEPS | SGSDAASIRT | SAVPSPCGKY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YTLNGSKLWI | SNGGLADIFT | VFAKTPVTDP | ATGAVKEKIT | AFVVERGFGG | ITHGPPEKKM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GIKASNTAEV | FFDGVRVPSE | NVLGEVGSGF | KVAMHILNNG | RFGMAAALAG | TMRGIIAKAV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DHATNRTQFG | EKIHNFGLIQ | EKLARMVMLQ | YVTESMAYMV | SANMDQGATD | FQIEAAISKI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FGSEAAWKVT | DECIQIMGGM | GFMKEPGVER | VLRDLRIFRI | FEGTNDILRL | FVALQGCMDK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GKELSGLGSA | LKNPFGNAGL | LLGEAGKQLR | RRAGLGSGLS | LSGLVHPELS | RSGELAVRAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EQFATVVEAK | LIKHKKGIVN | EQFLLQRLAD | GAIDLYAMVV | VLSRASRSLS | EGHPTAQHEK |
| 610 | 620 | 630 | 640 | 650 | |
| MLCDTWCIEA | AARIREGMAA | LQSDPWQQEL | YRNFKSISKA | LVERGGVVTS | NPLGF |