Q08426
PR
Gene name |
EHHADH |
Protein name |
Peroxisomal bifunctional enzyme |
Names |
PBE, PBFE, L-bifunctional protein, LBP, Multifunctional enzyme 1, MFE1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1962 |
EC number |
1.1.1.35: With NAD(+) or NADP(+) 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
1 structures for Q08426
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q08426-F1 | Predicted | AlphaFoldDB |
671 variants for Q08426
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_070949 CA149692 rs398124646 RCV000082871 |
3 | E>K | Fanconi renotubular syndrome 3 FRTS3; the mutant is mistargeted to mitochondria; results in impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids across the epithelium of renal proximal tubular cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs375593577 RCV002535403 CA2739358 RCV000734928 |
16 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002535214 RCV000731537 CA2739327 rs138013408 |
26 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000734982 RCV002507311 rs771955031 |
39 | A>* | Fanconi renotubular syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2739264 RCV000593853 RCV001255808 rs142339349 |
101 | G>E | Fanconi renotubular syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001843546 rs762656795 CA2739154 RCV000730652 |
225 | P>A | Fanconi renotubular syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2739058 RCV000734903 RCV002535399 rs141210101 |
338 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2739037 RCV002485882 rs140461295 RCV000730750 |
365 | L>V | Fanconi renotubular syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003165960 rs138187022 RCV000728894 CA2738976 |
472 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000662186 rs1553775828 |
606 | T>missing | Fanconi renotubular syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747527819 CA2739371 |
3 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2739369 rs940360362 |
3 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2739367 rs780548922 |
4 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758899079 CA2739366 |
6 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259149735 CA355678098 |
7 | L>M | No |
ClinGen gnomAD |
|
|
CA355678095 rs1218329677 |
7 | L>Q | No |
ClinGen gnomAD |
|
|
rs149510968 CA2739365 |
8 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2739363 rs757441517 |
9 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000729168 CA2739362 rs753915732 |
10 | A>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs940950085 CA89521505 |
12 | A>T | No |
ClinGen TOPMed |
|
|
rs759411054 CA2739360 |
13 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs751557206 CA2739359 |
13 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA89521500 rs984525668 |
14 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA89521498 rs374502678 |
15 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs762780943 CA2739357 |
16 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs769444169 RCV000728692 CA2739355 |
17 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1180155433 CA355677985 |
17 | R>Q | No |
ClinGen gnomAD |
|
|
CA355677979 rs1270751878 |
18 | N>H | No |
ClinGen TOPMed |
|
|
rs1238954251 CA355677965 |
18 | N>K | No |
ClinGen gnomAD |
|
|
CA2739354 rs761374219 |
18 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2739351 rs768105590 |
20 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355677942 rs768105590 |
20 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772540697 CA2739348 |
22 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1309993302 CA355677907 |
23 | A>G | No |
ClinGen gnomAD |
|
|
CA355677912 rs1192542830 |
23 | A>T | No |
ClinGen TOPMed |
|
|
rs1224911169 CA355677902 |
24 | I>V | No |
ClinGen gnomAD |
|
|
rs746184892 CA2739347 |
25 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739328 rs138013408 |
26 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000731049 rs781558131 |
27 | T>missing | No |
ClinVar dbSNP |
|
|
rs555300641 CA2739323 |
30 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2739322 rs781284695 |
30 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533972073 CA2739321 |
31 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1488877519 CA355676928 |
32 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1283615527 CA355676898 |
34 | E>G | No |
ClinGen TOPMed |
|
|
rs1484377552 CA355676876 |
36 | L>P | No |
ClinGen gnomAD |
|
|
CA355676868 rs1157901861 |
37 | Q>R | No |
ClinGen Ensembl |
|
|
CA89520491 rs991051165 |
39 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1062551 CA89520487 VAR_054329 |
40 | V>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA2739320 rs750381948 |
40 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs1062552 CA2739316 |
41 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_054330 CA89520483 rs1062552 |
41 | I>R | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1062552 CA355676823 |
41 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739317 RCV000908349 rs78790730 |
41 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355676809 rs1232343760 |
42 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 47 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355676736 RCV000595687 rs1232909122 |
48 | I>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA355676742 rs1186248881 |
48 | I>V | No |
ClinGen TOPMed |
|
|
rs1560023344 RCV000729314 |
49 | V>missing | No |
ClinVar dbSNP |
|
|
CA89520477 rs966882610 |
49 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2739313 rs760433877 |
49 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs767151443 CA2739311 |
50 | I>T | No |
ClinGen ExAC |
|
|
CA355676719 rs1417876234 |
50 | I>V | No |
ClinGen gnomAD |
|
|
rs1173345552 CA355676700 |
51 | C>F | No |
ClinGen gnomAD |
|
|
CA355676704 rs1173345552 |
51 | C>Y | No |
ClinGen gnomAD |
|
|
CA2739308 rs568876420 |
54 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 55 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2739307 rs771298971 |
56 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2739306 rs749668135 |
57 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA355676620 rs1478439729 |
59 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355676622 rs1478439729 |
59 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA355676617 rs1231418665 |
59 | A>V | No |
ClinGen gnomAD |
|
|
CA2739285 rs776874092 RCV000731358 |
64 | R>C | Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138910957 RCV000729341 CA2739284 |
64 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs138910957 CA355683078 |
64 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747011854 CA2739283 |
66 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA355683056 rs1560019194 RCV000733216 |
67 | S>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA355683057 RCV000729210 rs1560019194 |
67 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA355683044 rs1329665571 |
68 | A>T | No |
ClinGen gnomAD |
|
|
CA2739282 rs780212498 |
73 | G>A | No |
ClinGen ExAC |
|
|
CA89580567 rs1062553 VAR_047132 |
75 | T>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs756040803 CA355682966 |
76 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936896582 CA355682891 |
83 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 86 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452125111 CA355682854 |
87 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA355682856 rs1452125111 COSM1753058 |
87 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1289048625 RCV000592974 CA355682834 |
89 | P>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA355682828 rs1560019155 |
89 | P>L | No |
ClinGen Ensembl |
|
|
CA2739270 rs750992394 |
90 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs56292788 CA2739272 |
90 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000594046 CA2739271 rs56292788 |
90 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2739269 rs765551087 |
91 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1241176029 CA355682816 |
91 | V>M | No |
ClinGen gnomAD |
|
|
rs1278149839 CA355682802 |
93 | A>T | No |
ClinGen gnomAD |
|
|
CA355682767 rs1577372408 |
96 | G>S | No |
ClinGen Ensembl |
|
|
CA2739267 rs370545446 |
97 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768718791 CA2739265 RCV000734820 |
100 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA355682705 rs147693859 |
102 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147693859 CA355682703 |
102 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2739263 rs147693859 |
102 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239828059 CA355682695 |
103 | L>R | No |
ClinGen gnomAD |
|
|
CA89580506 rs895011200 |
106 | A>S | No |
ClinGen TOPMed |
|
|
CA355682669 rs1378039402 |
106 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA89580503 rs200907298 |
107 | L>Q | No |
ClinGen Ensembl |
|
|
CA355682655 rs1478233346 |
108 | G>D | No |
ClinGen gnomAD |
|
|
CA355682647 rs1246090775 |
109 | C>Y | No |
ClinGen gnomAD |
|
|
CA355682629 rs1206072652 |
110 | H>Q | No |
ClinGen TOPMed |
|
|
CA2739261 rs772253209 |
112 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs772253209 CA355682609 |
112 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs749233042 CA2739260 |
114 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1235058519 CA355682579 |
115 | H>L | No |
ClinGen TOPMed |
|
|
rs1353276508 CA355682584 |
115 | H>Y | No |
ClinGen gnomAD |
|
|
CA2739258 rs753038564 COSM1421423 |
116 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2739257 rs747905454 |
117 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000727969 rs1560017500 CA355682279 |
118 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA355682266 rs1466979040 |
120 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748105918 CA2739239 |
120 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746607247 CA2739236 |
123 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA89579014 rs752330590 |
124 | E>K | No |
ClinGen Ensembl |
|
|
CA2739235 rs779802983 |
126 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1183607916 CA355682231 |
126 | T>K | No |
ClinGen gnomAD |
|
|
rs745340581 CA2739233 |
127 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1342295591 CA355682224 |
128 | G>* | No |
ClinGen TOPMed |
|
|
rs147050936 CA2739231 |
129 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867859330 CA89579005 |
131 | P>S | No |
ClinGen gnomAD |
|
|
CA2739230 rs754425579 |
133 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs865917259 CA89579003 |
133 | A>S | No |
ClinGen Ensembl |
|
|
rs1031414812 CA89578999 |
134 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2739229 rs764363316 |
136 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89578996 rs764363316 |
136 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148984368 CA2739228 |
137 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs942597214 CA89578985 RCV000733615 |
141 | R>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs759871895 CA2739225 |
143 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739226 RCV000731971 rs371383786 |
143 | T>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs945706526 CA89578980 |
144 | G>E | No |
ClinGen Ensembl |
|
|
rs774508058 CA2739224 |
146 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377719300 CA2739223 |
147 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs990265372 CA355682107 |
149 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs990265372 CA89578970 |
149 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761832562 CA2739222 |
150 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355682085 rs1185020054 |
152 | I>T | No |
ClinGen TOPMed |
|
|
CA89578962 rs996532215 |
155 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1354041928 CA355681768 |
155 | G>V | No |
ClinGen gnomAD |
|
|
CA355681757 rs1284860537 |
157 | R>C | No |
ClinGen gnomAD |
|
|
CA355681759 rs1284860537 |
157 | R>G | No |
ClinGen gnomAD |
|
|
rs760532670 CA2739199 |
157 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs775296210 CA2739198 |
159 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355681709 rs1300731830 |
161 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs572168718 CA2739196 |
162 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2739197 rs771912925 |
162 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA355681695 rs1301653569 |
162 | E>K | No |
ClinGen gnomAD |
|
|
rs774034501 CA355681645 |
165 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748785259 CA2739193 |
168 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777180874 CA2739192 |
170 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000730435 CA355681584 rs1560013407 |
171 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA355681548 rs1379755655 |
174 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781683788 CA2739189 |
177 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781683788 CA2739190 |
177 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868468862 CA89574620 |
178 | V>F | No |
ClinGen Ensembl |
|
|
CA355681483 rs1267361802 |
179 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 180 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355681440 RCV000731896 rs1195296762 |
183 | R>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs751806587 CA2739187 |
185 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1387233726 CA355681394 |
186 | Q>R | No |
ClinGen TOPMed |
|
|
RCV000722874 rs1560013367 |
187 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 187 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780370991 CA2739186 |
188 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs765105505 CA89564626 |
190 | D>E | No |
ClinGen Ensembl |
|
|
CA355680575 rs1459790712 |
190 | D>G | No |
ClinGen gnomAD |
|
|
rs1435272120 CA355681343 |
190 | D>N | No |
ClinGen TOPMed |
|
|
rs146633671 CA89564611 |
191 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2739173 rs146633671 |
191 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2739172 rs748687324 |
191 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1250992755 CA355680548 |
192 | P>L | No |
ClinGen TOPMed |
|
|
rs777322705 CA2739171 |
194 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000723156 rs1375541639 |
196 | R>missing | No |
ClinVar dbSNP |
|
|
rs202051821 CA2739169 |
196 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2739170 rs202051821 |
196 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1042171 rs780567517 CA2739168 |
196 | R>H | endometrium Variant assessed as Somatic; 4.648e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781090244 RCV001171347 |
199 | C>missing | No |
ClinVar dbSNP |
|
|
CA2739166 rs1553776950 RCV000593241 |
199 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA355680439 rs1342557488 CA355680440 |
200 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA89564565 rs922061056 |
202 | P>A | No |
ClinGen Ensembl |
|
| rs1216721280 | 202 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149115164 CA2739164 RCV000883128 |
203 | I>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199689303 RCV000730030 CA2739165 |
203 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355680369 rs1306718370 |
204 | Q>* | No |
ClinGen TOPMed |
|
|
CA355680342 rs1370540329 |
205 | S>N | No |
ClinGen TOPMed |
|
|
CA2739163 rs779045927 |
206 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs966265703 CA89564546 |
207 | P>R | No |
ClinGen gnomAD |
|
|
CA355680301 rs1560009142 RCV000729395 |
208 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs752609032 CA2739161 |
209 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1560009139 CA355680287 |
209 | M>T | No |
ClinGen Ensembl |
|
|
CA355680254 rs145972339 |
211 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs145972339 CA2739160 |
211 | S>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1057482044 CA89564526 |
214 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355680219 rs1435969707 |
214 | S>T | No |
ClinGen TOPMed |
|
|
CA355680190 rs1182574610 |
216 | A>P | No |
ClinGen gnomAD |
|
|
CA355680186 rs1226363015 |
216 | A>V | No |
ClinGen TOPMed |
|
|
rs754941485 CA2739157 |
219 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs999471043 CA89564499 |
220 | M>I | No |
ClinGen gnomAD |
|
|
CA2739155 rs753620285 |
221 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739156 rs751289858 |
221 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2739153 rs772810052 |
225 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355680080 rs762656795 |
225 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380767077 CA355680043 |
228 | L>V | No |
ClinGen gnomAD |
|
|
CA355680033 rs1311931049 |
229 | A>T | No |
ClinGen gnomAD |
|
|
rs1447971993 CA355680025 |
229 | A>V | No |
ClinGen gnomAD |
|
|
rs764777041 CA2739152 |
230 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1327406522 CA355680017 |
230 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200735095 CA89564443 |
231 | E>G | No |
ClinGen 1000Genomes |
|
|
CA355679981 rs1193368626 |
232 | A>V | No |
ClinGen TOPMed |
|
|
rs141664962 CA2739151 COSM280746 |
235 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148423296 CA2739150 |
235 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148423296 CA355679944 COSM3702378 |
235 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769215989 CA2739149 |
236 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747529583 CA2739148 |
237 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs367585416 CA2739146 |
238 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000732948 rs200753408 CA2739145 RCV000938530 |
238 | Q>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA355679894 rs1200939053 |
239 | A>V | No |
ClinGen gnomAD |
|
|
rs144566313 CA2739144 |
240 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355679857 RCV000731821 rs779053739 |
242 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs757522486 CA2739142 |
243 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89564388 rs868115450 |
244 | P>S | No |
ClinGen Ensembl |
|
|
CA355679823 rs1357636145 |
245 | Y>C | No |
ClinGen gnomAD |
|
|
CA2739141 rs749328305 |
246 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1350386129 CA355679796 |
247 | V>A | No |
ClinGen gnomAD |
|
|
CA2739138 rs149294851 |
249 | I>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2739136 rs758171902 |
252 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2739135 rs750250817 |
254 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355679701 rs1174138766 |
254 | E>Q | No |
ClinGen gnomAD |
|
|
rs114864468 RCV000888683 CA2739133 |
255 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753338712 CA2739132 |
258 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs775900075 CA2739129 |
260 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739130 rs761258260 |
260 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246825738 CA355679631 |
261 | Q>* | No |
ClinGen TOPMed |
|
|
rs1263612067 CA355679629 |
261 | Q>R | No |
ClinGen TOPMed |
|
|
CA2739127 rs759769910 RCV000729814 |
262 | S>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs759769910 CA355679621 |
262 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355679612 rs1463303164 |
264 | Q>* | No |
ClinGen TOPMed |
|
|
RCV000733079 rs1560008921 CA355679604 |
265 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA89564314 rs930349160 |
266 | R>G | No |
ClinGen Ensembl |
|
|
rs771075254 CA2739125 |
266 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs771075254 CA355679598 |
266 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2739122 rs769930616 |
267 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA355679594 rs749527982 |
267 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749527982 CA2739124 |
267 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739123 rs769930616 |
267 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2739121 rs746921626 |
268 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355679585 rs1243170061 |
269 | Q>* | No |
ClinGen TOPMed |
|
|
CA2739119 rs758387500 |
272 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs560229048 CA2739116 |
274 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_047133 CA2739117 rs2302819 |
274 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1457708966 CA355679538 |
276 | R>G | No |
ClinGen TOPMed |
|
|
rs753610447 CA2739115 |
276 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000734874 rs1560008854 CA913189839 |
276 | R>SI | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2739114 rs763665044 |
277 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89564235 rs763665044 |
277 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355679520 rs1577357057 |
279 | N>H | No |
ClinGen Ensembl |
|
|
CA355679508 rs1335995244 |
280 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA89564229 rs978287678 |
281 | W>* | No |
ClinGen TOPMed |
|
|
CA2739113 RCV000946778 rs115754857 |
283 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355679486 rs1339850073 |
283 | T>I | No |
ClinGen TOPMed |
|
|
CA355679490 rs115754857 |
283 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1478735998 CA355679484 |
284 | P>A | No |
ClinGen gnomAD |
|
|
CA355679480 rs1425914283 |
284 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 285 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767872565 CA89564167 |
286 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355679472 rs1212730885 |
286 | G>E | No |
ClinGen gnomAD |
|
|
rs767872565 CA2739111 COSM1205086 |
286 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs959720474 CA89564127 |
288 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355679452 rs1256233289 |
288 | S>T | No |
ClinGen TOPMed |
|
|
rs1423702542 CA355679436 |
289 | W>* | No |
ClinGen TOPMed |
|
|
rs751036133 CA2739107 |
290 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1295687691 CA355679420 |
290 | K>R | No |
ClinGen gnomAD |
|
|
rs1013285934 CA89564108 |
291 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA355679409 rs1471816454 |
291 | T>I | No |
ClinGen TOPMed |
|
|
rs1477604929 CA355679397 |
292 | A>E | No |
ClinGen Ensembl |
|
|
rs1158697281 CA355679403 |
292 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2739106 rs773467007 |
293 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA2739105 rs140514906 RCV000593576 |
294 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355679359 rs1467126130 |
295 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA355679361 rs1467126130 |
295 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1421421 CA2739103 rs370789385 |
295 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs576283902 RCV000943396 CA2739102 |
297 | V>F | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA89564054 rs1001762073 |
298 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745872713 CA2739101 |
299 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739099 rs201955662 |
301 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2739098 rs748925800 |
302 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2739096 rs143364521 RCV000730070 |
303 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2739097 rs111629390 |
303 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752082700 CA2739095 |
304 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374407853 CA89554504 |
305 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA355678776 rs1242114143 |
305 | L>V | No |
ClinGen gnomAD |
|
|
CA355678767 rs1389609552 |
306 | G>E | No |
ClinGen gnomAD |
|
|
rs780565732 CA2739077 |
306 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs185950214 CA2739076 RCV000731731 |
307 | T>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1298062223 CA355678757 |
308 | M>T | No |
ClinGen TOPMed |
|
|
rs200940532 CA2739075 |
310 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200940532 CA2739074 |
310 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758906264 CA2739073 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89554437 rs146637162 |
311 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1301503304 CA355678741 |
311 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2739072 rs146637162 |
311 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1301503304 CA355678743 |
311 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776981445 CA355678705 |
317 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2739069 rs776981445 |
317 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2739068 rs377355560 |
320 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258125389 CA355678681 |
321 | I>V | No |
ClinGen TOPMed |
|
|
CA2739067 rs760751319 |
324 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760751319 CA89554342 |
324 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_054331 CA89554322 rs1062555 |
325 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA355678640 rs1490035131 |
327 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1199600692 CA355678642 |
327 | D>G | No |
ClinGen gnomAD |
|
|
rs144464757 CA2739066 RCV000733324 |
328 | S>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773117658 CA2739063 |
331 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577351568 CA355678615 |
331 | N>T | No |
ClinGen Ensembl |
|
|
CA355678597 rs1418547526 |
334 | A>T | No |
ClinGen TOPMed |
|
|
rs58044717 RCV000898974 CA2739061 |
335 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs58044717 CA2739062 |
335 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146431168 CA2739059 RCV000729080 |
336 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA89554244 COSM3380475 rs1007319456 |
336 | A>V | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA355678581 rs887631331 |
337 | N>S | No |
ClinGen TOPMed |
|
|
rs887631331 CA89554242 |
337 | N>T | No |
ClinGen TOPMed |
|
|
CA89554241 rs1048779807 |
338 | K>E | No |
ClinGen TOPMed |
|
|
CA2739057 rs779566273 |
339 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200025508 CA2739056 |
339 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA89554205 rs928913581 |
341 | T>I | No |
ClinGen gnomAD |
|
|
rs754168526 CA2739052 |
347 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2739051 rs764311738 |
349 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA355678496 rs1350169316 |
350 | K>T | No |
ClinGen TOPMed |
|
|
rs752775072 CA2739049 |
351 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2739050 rs760838290 |
351 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355678491 rs760838290 |
351 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762950712 CA2739047 |
354 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89554161 rs369342065 |
354 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355678462 rs150744159 |
355 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000597904 rs150744159 CA2739045 |
355 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355678451 rs142166617 |
356 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553775920 CA355678436 RCV000598252 |
358 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA89554076 rs966825486 |
358 | W>L | No |
ClinGen TOPMed |
|
|
rs186736134 CA2739040 RCV000728469 |
361 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000732438 CA355678417 rs1237997726 |
362 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs376485820 CA89554041 |
363 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA355678404 rs1327316033 |
364 | R>G | No |
ClinGen gnomAD |
|
|
rs779511251 CA2739039 |
364 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771639324 CA2739038 |
364 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337726030 CA2739035 |
365 | L>F | No |
ClinGen gnomAD |
|
|
CA2739033 CA2739034 rs757709975 |
369 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757709975 CA89554006 |
369 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754190805 CA2739032 |
372 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2739030 rs756381296 |
374 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753006174 CA2739029 |
375 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767699207 CA2739028 |
376 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113141052 CA355678313 |
379 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2739026 rs751700253 |
379 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759745462 CA2739027 |
379 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM345479 CA89553965 rs373487586 |
380 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ESP |
|
rs369476227 CA2739024 |
382 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355678298 rs369476227 |
382 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2739023 rs776468721 |
386 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA355678259 rs1560004476 |
387 | S>N | No |
ClinGen Ensembl |
|
|
rs1577351379 CA355678239 |
390 | K>* | No |
ClinGen Ensembl |
|
|
rs1250789485 CA355678225 |
392 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1255970746 CA355678214 |
393 | F>C | No |
ClinGen TOPMed |
|
|
rs1560004462 CA355678206 |
394 | A>V | No |
ClinGen Ensembl |
|
|
CA355678204 rs1225520331 |
395 | E>K | No |
ClinGen gnomAD |
|
|
rs1361786273 CA355678197 |
396 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA355678193 rs1316241887 |
396 | L>P | No |
ClinGen gnomAD |
|
|
CA2739021 rs760318675 |
397 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2739020 rs147222564 |
398 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1395186057 CA355678181 |
399 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA355678165 rs1560004430 |
400 | C>F | No |
ClinGen Ensembl |
|
|
CA355678157 rs1385463872 |
401 | K>R | No |
ClinGen gnomAD |
|
|
CA89553928 rs951867675 |
403 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA355678128 rs1560004418 RCV000729601 |
404 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2739015 rs771421278 |
407 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 409 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749809014 CA2739014 |
410 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2739013 rs556708671 |
412 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372135936 CA2739012 |
413 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2739010 rs535280873 |
414 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1295846706 CA355677978 |
416 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355677969 rs1245759318 |
416 | D>V | No |
ClinGen gnomAD |
|
|
rs755251645 CA2739009 |
418 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751613675 CA2739008 |
419 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1351892451 CA355677884 |
423 | D>A | No |
ClinGen TOPMed |
|
|
CA2739004 rs143700632 |
424 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202021589 CA2739003 |
424 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202021589 CA355677868 |
424 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760406357 CA355677860 |
426 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993205330 CA89553810 |
426 | H>Q | No |
ClinGen TOPMed |
|
|
rs760406357 CA2739001 |
426 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775269382 CA2739000 |
427 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2738999 rs371369488 |
429 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867970912 CA89553775 |
430 | G>S | No |
ClinGen Ensembl |
|
|
rs1577351261 CA355677831 |
431 | T>P | No |
ClinGen Ensembl |
|
|
rs1418491030 CA355677826 |
432 | H>N | No |
ClinGen gnomAD |
|
|
rs1233689565 CA355677814 |
433 | F>C | No |
ClinGen TOPMed |
|
|
rs759208741 CA2738998 |
433 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759208741 CA355677818 |
433 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758180256 CA2738997 |
435 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA355677791 rs1274650307 |
437 | A>P | No |
ClinGen TOPMed |
|
|
CA89553719 rs752483208 |
438 | H>Q | No |
ClinGen Ensembl |
|
|
rs749797256 CA2738995 |
438 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773648025 CA2738994 COSM1633031 |
440 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs747707741 CA355677765 |
441 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747707741 RCV000593879 CA2738993 |
441 | K>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA355677735 rs1577351231 |
445 | V>F | No |
ClinGen Ensembl |
|
|
rs200718927 CA89553701 |
446 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2738990 rs755198252 |
448 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781711398 CA2738991 |
448 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747239137 CA2738989 |
449 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780181982 CA89553678 |
452 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2738988 rs780181982 |
452 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758468682 CA2738987 |
453 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1402730450 CA355677680 |
454 | T>N | No |
ClinGen gnomAD |
|
|
rs763954844 CA2738985 |
455 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2738984 rs756077792 |
455 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs756077792 CA355677674 |
455 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA355677669 rs1382754990 |
456 | I>T | No |
ClinGen gnomAD |
|
|
rs767349451 CA2738982 |
458 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2738980 rs773942079 |
460 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2738981 rs201295952 |
460 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355677626 rs1560004235 |
463 | S>P | No |
ClinGen Ensembl |
|
|
CA2738979 rs765897611 |
467 | K>E | No |
ClinGen ExAC |
|
|
CA355677569 rs1477197731 |
471 | V>L | No |
ClinGen gnomAD |
|
|
RCV000596768 rs138187022 CA355677564 |
472 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770381467 CA2738975 |
473 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 478 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206157698 CA355677514 |
479 | F>S | No |
ClinGen gnomAD |
|
|
CA2738973 rs144698232 |
481 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2738972 rs367840568 RCV000352408 |
483 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000968569 CA2738971 rs79582353 |
483 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780084491 CA2738970 |
484 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA2738969 rs776267751 |
485 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89553444 rs945544963 |
487 | P>L | No |
ClinGen TOPMed |
|
|
CA2738966 rs756024894 |
488 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355677449 rs1470269383 |
489 | Y>C | No |
ClinGen gnomAD |
|
|
CA2738965 rs752670450 |
489 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA355677427 rs1175881295 |
490 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 491 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570414096 CA2738964 |
491 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 492 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355677411 rs1421977764 |
492 | A>T | No |
ClinGen gnomAD |
|
|
RCV000730947 CA355677391 rs1219127385 |
493 | Y>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA355677356 rs1187353008 |
495 | L>F | No |
ClinGen gnomAD |
|
|
rs1475185942 CA355677333 |
497 | E>V | No |
ClinGen gnomAD |
|
|
CA355677307 rs974865861 |
499 | G>D | No |
ClinGen TOPMed |
|
|
rs974865861 CA89553413 |
499 | G>V | No |
ClinGen TOPMed |
|
|
CA355677286 rs1246581312 |
501 | K>E | No |
ClinGen gnomAD |
|
|
rs551915910 RCV000734397 CA2738963 |
502 | P>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA355677261 rs1310646310 |
503 | E>Q | No |
ClinGen gnomAD |
|
|
rs751382055 CA2738962 |
504 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1243037486 CA355677224 |
505 | V>A | No |
ClinGen gnomAD |
|
|
CA355677221 rs1219548263 |
506 | D>H | No |
ClinGen gnomAD |
|
|
rs765877679 CA2738961 |
512 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs966054985 CA89553338 |
513 | G>D | No |
ClinGen TOPMed |
|
|
rs976593025 CA89553349 |
513 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
RCV000595598 CA355677092 rs1553775854 |
515 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1560004064 CA355677076 RCV000729347 |
516 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2738960 rs762695637 |
516 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1316974093 CA355677051 |
518 | P>R | No |
ClinGen gnomAD |
|
|
CA2738958 rs764885714 |
519 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762409011 CA2738957 |
519 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355677043 rs1444236842 |
520 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355677024 rs1189064696 |
521 | V>G | No |
ClinGen TOPMed |
|
|
rs769222941 CA2738954 |
523 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388543545 CA355676489 |
523 | D>V | No |
ClinGen gnomAD |
|
|
rs1165907233 CA355676484 |
524 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1165907233 CA355676485 |
524 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2738953 rs760885049 |
525 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA355676477 rs760885049 |
525 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2738951 rs537713643 |
527 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1560003998 CA355676456 |
528 | D>E | No |
ClinGen Ensembl |
|
|
CA355676455 rs1232965233 |
529 | V>M | No |
ClinGen gnomAD |
|
|
CA2738950 rs746150595 |
530 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2738949 rs778934480 |
532 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs189571036 CA2738948 |
535 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355676405 rs1358497954 |
536 | G>E | No |
ClinGen gnomAD |
|
|
CA89553260 rs774804691 |
538 | G>S | No |
ClinGen gnomAD |
|
|
CA2738946 rs781047369 |
539 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754945220 CA2738945 |
539 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2738944 rs751270153 |
540 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs779917350 CA2738943 |
543 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 546 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 547 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355676339 rs1305206860 |
547 | G>V | No |
ClinGen gnomAD |
|
|
CA2738942 rs757961359 |
550 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2738941 rs138388673 |
551 | R>* | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2738940 rs145907786 |
551 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2738939 rs761352142 |
552 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs962197042 | 553 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761704890 CA89553210 |
553 | R>S | No |
ClinGen Ensembl |
|
|
CA355676305 rs1176167197 |
554 | G>S | No |
ClinGen gnomAD |
|
|
CA2738938 rs753406184 |
554 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 555 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769086935 CA89553175 |
555 | N>S | No |
ClinGen Ensembl |
|
|
RCV000594935 rs140735525 CA2738935 |
556 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1281355176 CA355676292 |
556 | R>K | No |
ClinGen TOPMed |
|
|
CA2738934 rs775695626 |
557 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA355676278 rs1490066327 |
558 | Y>C | No |
ClinGen gnomAD |
|
|
CA2738933 rs767966069 |
558 | Y>N | No |
ClinGen ExAC |
|
|
CA355676271 rs1209931683 |
559 | C>Y | No |
ClinGen TOPMed |
|
|
rs1264061280 CA355676261 |
560 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA89553123 rs930618871 |
561 | I>V | No |
ClinGen TOPMed |
|
|
CA2738929 rs771154497 RCV000729465 |
565 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 565 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355676221 rs1454791412 |
567 | E>K | No |
ClinGen TOPMed |
|
|
rs1577350867 CA355676216 |
567 | E>V | No |
ClinGen Ensembl |
|
|
rs921960977 CA89553091 |
569 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749297909 CA2738928 |
570 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2738927 rs151323332 |
570 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413693458 CA355676195 |
571 | F>Y | No |
ClinGen TOPMed |
|
|
CA355676180 rs1405794885 |
573 | Q>R | No |
ClinGen gnomAD |
|
|
TCGA novel CA355676170 rs1390269786 |
574 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1292218510 CA355676161 |
576 | G>R | No |
ClinGen gnomAD |
|
|
CA2738926 rs768426442 |
577 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355676105 rs1560003852 |
583 | D>E | No |
ClinGen Ensembl |
|
|
rs912398236 CA89553049 |
583 | D>N | No |
ClinGen TOPMed |
|
|
CA355676096 rs1159102777 |
584 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 584 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000734156 rs1255563715 |
591 | K>missing | No |
ClinVar dbSNP |
|
|
CA2738924 rs779678889 |
591 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355676039 rs1210575521 |
593 | D>Y | No |
ClinGen gnomAD |
|
|
rs1264785931 CA355676020 |
595 | W>C | No |
ClinGen gnomAD |
|
|
CA355676026 rs1308119641 |
595 | W>R | No |
ClinGen TOPMed |
|
|
rs1042437 CA355676002 RCV000733757 |
598 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA89553011 rs1042437 VAR_054332 |
598 | K>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA89552993 rs572469071 |
600 | L>Q | No |
ClinGen Ensembl |
|
|
CA2738922 rs745676620 |
601 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs35200935 RCV000969464 CA2738920 RCV000598312 |
602 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000591119 rs148208284 CA2738921 |
602 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs763711039 CA2738918 |
603 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218977685 CA355675971 |
604 | R>* | No |
ClinGen TOPMed |
|
|
rs369443333 CA89552897 |
605 | K>Q | No |
ClinGen Ensembl |
|
|
rs140844253 CA2738917 RCV000591304 |
605 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA89552885 VAR_047134 rs1042438 |
606 | T>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA355675949 rs1196944705 |
607 | H>L | No |
ClinGen TOPMed |
|
|
rs1237812822 CA355675942 |
608 | H>R | No |
ClinGen TOPMed |
|
|
rs759836155 CA2738915 |
609 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759836155 CA2738914 |
609 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753315556 CA2738916 |
609 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034027178 CA89552821 |
610 | E>K | No |
ClinGen Ensembl |
|
|
COSM298656 rs774700662 CA2738913 |
612 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766546235 CA2738912 |
612 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766546235 CA355675918 |
612 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355675916 rs1456127894 |
613 | T>A | No |
ClinGen gnomAD |
|
|
CA355675912 rs1577350723 |
613 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 614 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 614 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355675901 rs1176614097 |
615 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355675897 rs1465087274 |
615 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2738910 rs773138654 |
618 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769953706 CA2738909 |
619 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1560003719 CA355675859 RCV000730438 |
621 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs199916968 RCV000591115 CA2738907 |
622 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs115181280 CA2738906 |
622 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA89552767 rs115181280 |
622 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778874907 CA2738904 |
624 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2738903 rs756949482 |
625 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355675832 rs1254288261 |
625 | Y>C | No |
ClinGen gnomAD |
|
|
rs574285941 CA2738902 |
626 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 626 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755706394 CA2738900 |
627 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355675815 rs1577350659 |
628 | I>T | No |
ClinGen Ensembl |
|
|
CA2738899 rs137875298 |
629 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355675798 rs1320370663 |
630 | E>D | No |
ClinGen TOPMed |
|
|
CA2738898 rs201374672 RCV000598386 |
633 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs576887957 CA2738897 |
633 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576887957 CA2738896 |
633 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766776927 CA2738895 |
634 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA89552667 rs548913750 |
634 | I>V | No |
ClinGen Ensembl |
|
|
CA355675772 rs1357368269 |
635 | L>S | No |
ClinGen TOPMed |
|
|
CA89552655 rs1049741731 |
636 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 638 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750721273 CA2738893 |
639 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA355675744 rs1577350618 |
639 | I>M | No |
ClinGen Ensembl |
|
|
rs1168958629 CA355675721 |
643 | P>S | No |
ClinGen gnomAD |
|
|
rs765395651 CA2738892 |
644 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs761890646 CA2738891 |
645 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA355675707 rs1186792141 |
645 | H>R | No |
ClinGen gnomAD |
|
|
RCV000728356 rs140527463 CA2738889 |
646 | I>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2738890 rs375669510 |
646 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1476711264 CA355675689 |
648 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA355675683 rs1577350576 |
649 | V>I | No |
ClinGen Ensembl |
|
|
CA2738887 rs570316828 |
652 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1362076830 CA355675641 |
655 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748880297 CA2738884 |
656 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339213115 CA355675626 |
657 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777425695 CA2738883 |
658 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89552578 rs958664006 |
659 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355675610 rs1369615875 |
659 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs958664006 CA355675614 |
659 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA89552556 rs201266244 |
660 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 661 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2738879 rs145221455 |
662 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147199442 CA89552539 |
662 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA355675587 rs1247211077 |
663 | P>R | No |
ClinGen TOPMed |
|
|
rs780389243 CA2738878 |
664 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780389243 CA2738877 |
664 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184131277 CA355675562 |
667 | A>S | No |
ClinGen gnomAD |
|
|
rs1577350495 CA355675548 |
669 | T>S | No |
ClinGen Ensembl |
|
|
rs750760687 CA355675540 |
670 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2738875 rs750760687 |
670 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355675536 rs1203283619 |
671 | G>E | No |
ClinGen gnomAD |
|
|
CA2738874 rs765463392 |
671 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA355675533 rs1577350470 |
672 | L>V | No |
ClinGen Ensembl |
|
|
CA355675526 rs1490884281 |
673 | P>A | No |
ClinGen gnomAD |
|
|
CA355675522 rs1291111720 |
673 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA89552421 rs879251212 |
674 | T>A | No |
ClinGen Ensembl |
|
|
CA355675515 rs1553775800 RCV000594486 |
675 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1209612203 CA355675485 |
679 | L>W | No |
ClinGen gnomAD |
|
|
rs200144355 CA355675475 |
680 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354910092 CA355675478 |
680 | Q>R | No |
ClinGen gnomAD |
|
|
rs753933808 CA2738872 RCV000733978 |
681 | K>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2738870 rs759544231 |
682 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA355675466 rs1184879436 |
682 | Y>H | No |
ClinGen TOPMed |
|
|
rs759544231 CA2738871 |
682 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA2738869 RCV000884406 rs114173562 |
684 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2738868 VAR_047135 rs11919970 |
685 | Q>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2738867 rs762740668 |
686 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2738865 rs769437953 |
688 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1159103491 CA355675418 |
689 | I>F | No |
ClinGen gnomAD |
|
|
RCV000884405 rs114925063 CA2738863 |
689 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000592546 rs781751204 |
690 | P>missing | No |
ClinVar dbSNP |
|
|
CA89552311 rs913067903 RCV000722678 |
692 | L>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs780475066 CA355675390 |
693 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747498106 RCV000732562 CA2738860 |
693 | E>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2738857 rs375620569 |
694 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758862674 CA2738858 |
694 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2738856 rs779197565 |
695 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs779197565 CA355675382 |
695 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771723269 CA89552292 |
697 | Y>C | No |
ClinGen Ensembl |
|
|
rs1577350331 CA355675354 |
699 | K>R | No |
ClinGen Ensembl |
|
|
CA2738853 rs764258254 |
700 | K>I | No |
ClinGen ExAC gnomAD |
|
| rs747455018 | 700 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355675346 rs764258254 |
700 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764258254 CA355675347 |
700 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA355675333 rs1577350305 |
702 | A>V | No |
ClinGen Ensembl |
|
|
CA355675332 rs1577350298 |
703 | S>A | No |
ClinGen Ensembl |
|
|
rs55752621 RCV001171327 RCV000954619 CA2738849 |
703 | S>F | No |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP |
|
| rs1367917634 | 705 | G>E | Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2738848 rs756205658 COSM222885 |
705 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000596481 rs56056620 CA2738847 RCV000969777 |
706 | N>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs56056620 CA355675310 |
706 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355675304 rs1327982575 |
707 | P>L | No |
ClinGen gnomAD |
|
|
CA355675305 rs1433800235 |
707 | P>S | No |
ClinGen gnomAD |
|
|
rs1560003380 CA355675298 |
708 | P>H | No |
ClinGen Ensembl |
|
|
CA355675292 rs1318653233 |
709 | L>P | No |
ClinGen gnomAD |
|
|
rs138302598 CA2738846 |
710 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446421393 CA355675277 |
711 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA89552185 rs1027857732 |
712 | W>C | No |
ClinGen Ensembl |
|
|
CA2738845 rs762821133 |
712 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773036775 CA2738844 |
714 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917179166 CA89552180 |
714 | S>R | No |
ClinGen TOPMed |
|
|
VAR_047136 CA2738843 RCV000956160 rs11927618 |
715 | L>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764871930 CA2738839 |
717 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2738841 rs776320855 |
717 | G>S | No |
ClinGen ExAC |
|
|
rs764871930 CA355675239 |
717 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140662313 CA2738838 |
718 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1577350210 CA355675237 |
718 | S>P | No |
ClinGen Ensembl |
|
|
rs1577350197 CA355675230 |
719 | P>H | No |
ClinGen Ensembl |
|
|
RCV000591584 rs138945273 CA2738837 |
721 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs968361154 CA89552145 |
721 | S>N | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q08426
[MIM: 615605]: Fanconi renotubular syndrome 3 (FRTS3)
A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant. {ECO:0000269|PubMed:24401050}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant. {ECO:0000269|PubMed:24401050}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q08426
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA-directed RNA polymerase, C-terminal domain | 5 - 115 | IPR001205 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.35 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| peroxisomal matrix | The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3-hydroxyacyl-CoA dehydrogenase activity | Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H(+). |
| delta(3)-delta(2)-enoyl-CoA isomerase activity | Catalysis of the reactions: a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA or a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA. |
| enoyl-CoA hydratase activity | Catalysis of the reaction: (3S)-3-hydroxyacyl-CoA = trans-2-enoyl-CoA + H2O. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| intramolecular oxidoreductase activity, transposing C=C bonds | Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, one or more carbon-carbon double bonds in the molecule are rearranged, and no oxidized product appears. |
| long-chain-3-hydroxyacyl-CoA dehydrogenase activity | Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD(P)+ = 3-oxoacyl-CoA + NAD(P)H + H+, where the acyl group is a long-chain fatty acid residue. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| long-chain-enoyl-CoA hydratase activity | Catalysis of the reaction: a long-chain (3S)-3-hydroxyacyl-CoA = a long-chain trans-2-enoyl-CoA + H2O. A long-chain acyl-CoA is an acyl-CoA thioester where the acyl chain contains 13 to 22 carbon atoms. |
| NAD+ binding | Binding to the oxidized form, NAD, of nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| fatty acid beta-oxidation using acyl-CoA oxidase | A fatty acid beta-oxidation pathway in which the initial step, which converts an acyl-CoA to a trans-2-enoyl-CoA, is catalyzed by acyl-CoA oxidase; the electrons removed by oxidation pass directly to oxygen and produce hydrogen peroxide, which is cleaved by peroxisomal catalases. 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). |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q39659 | Glyoxysomal fatty acid beta-oxidation multifunctional protein MFP-a | Cucumis sativus (Cucumber) | PR | |
| P42126 | ECI1 | Enoyl-CoA delta isomerase 1, mitochondrial | Homo sapiens (Human) | PR |
| P23965 | Eci1 | Enoyl-CoA delta isomerase 1, mitochondrial | Rattus norvegicus (Rat) | PR |
| Q8W1L6 | MFP | Peroxisomal fatty acid beta-oxidation multifunctional protein | Oryza sativa subsp japonica (Rice) | PR |
| Q9ZPI5 | MFP2 | Peroxisomal fatty acid beta-oxidation multifunctional protein MFP2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEYTRLHNA | LALIRLRNPP | VNAISTTLLR | DIKEGLQKAV | IDHTIKAIVI | CGAEGKFSAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ADIRGFSAPR | TFGLTLGHVV | DEIQRNEKPV | VAAIQGMAFG | GGLELALGCH | YRIAHAEAQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLPEVTLGLL | PGARGTQLLP | RLTGVPAALD | LITSGRRILA | DEALKLGILD | KVVNSDPVEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AIRFAQRVSD | QPLESRRLCN | KPIQSLPNMD | SIFSEALLKM | RRQHPGCLAQ | EACVRAVQAA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VQYPYEVGIK | KEEELFLYLL | QSGQARALQY | AFFAERKANK | WSTPSGASWK | TASARPVSSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GVVGLGTMGR | GIVISFARAR | IPVIAVDSDK | NQLATANKMI | TSVLEKEASK | MQQSGHPWSG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PKPRLTSSVK | ELGGVDLVIE | AVFEEMSLKK | QVFAELSAVC | KPEAFLCTNT | SALDVDEIAS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| STDRPHLVIG | THFFSPAHVM | KLLEVIPSQY | SSPTTIATVM | NLSKKIKKIG | VVVGNCFGFV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GNRMLNPYYN | QAYFLLEEGS | KPEEVDQVLE | EFGFKMGPFR | VSDLAGLDVG | WKSRKGQGLT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GPTLLPGTPA | RKRGNRRYCP | IPDVLCELGR | FGQKTGKGWY | QYDKPLGRIH | KPDPWLSKFL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SRYRKTHHIE | PRTISQDEIL | ERCLYSLINE | AFRILGEGIA | ASPEHIDVVY | LHGYGWPRHK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GGPMFYASTV | GLPTVLEKLQ | KYYRQNPDIP | QLEPSDYLKK | LASQGNPPLK | EWQSLAGSPS |
| SKL |