Q92523
PR
Gene name |
CPT1B (KIAA1670) |
Protein name |
Carnitine O-palmitoyltransferase 1, muscle isoform |
Names |
CPT1-M, Carnitine O-palmitoyltransferase I, muscle isoform, CPT I, CPTI-M, Carnitine palmitoyltransferase 1B, Carnitine palmitoyltransferase I-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1375 |
EC number |
2.3.1.21: Transferring groups other than amino-acyl groups |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q92523
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92523-F1 | Predicted | AlphaFoldDB |
700 variants for Q92523
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000785687 rs141837905 CA10323157 RCV002533871 |
252 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1409491190 CA412191899 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1230626674 CA412191894 |
3 | E>K | No |
ClinGen TOPMed |
|
|
CA412191848 rs1356358540 |
4 | A>G | No |
ClinGen gnomAD |
|
|
rs1314952032 CA412191835 |
5 | H>R | No |
ClinGen gnomAD |
|
|
rs781389802 CA10323434 |
6 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10323432 rs747237718 |
6 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10323433 rs755150536 |
6 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10323431 rs780338140 |
7 | A>T | No |
ClinGen ExAC |
|
|
rs1402369580 CA412191754 |
7 | A>V | No |
ClinGen gnomAD |
|
|
CA325535116 rs530660261 |
8 | V>M | No |
ClinGen 1000Genomes |
|
|
CA10323430 rs758787301 |
9 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323428 rs563363846 |
10 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM243833 rs1464859896 CA412191683 |
10 | F>L | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs563363846 CA412191677 |
10 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757834882 CA10323427 |
11 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA412191638 rs1270061398 |
11 | Q>H | No |
ClinGen TOPMed |
|
|
CA10323426 rs753278512 |
13 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 14 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412191533 rs1482490183 |
14 | V>L | No |
ClinGen gnomAD |
|
|
CA412191500 rs1237254582 |
15 | T>N | No |
ClinGen gnomAD |
|
|
rs1198238412 CA412191478 |
16 | P>A | No |
ClinGen TOPMed |
|
|
CA325535106 rs934442302 |
16 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199821148 CA325535103 |
17 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10323423 rs368271240 |
18 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760342156 CA10323424 |
18 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412191356 rs1413148866 |
21 | F>I | No |
ClinGen gnomAD |
|
|
CA10323420 rs774249901 CA10323421 |
21 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10323419 rs770760676 |
22 | R>Q | No |
ClinGen ExAC |
|
|
CA412191325 rs1289198003 |
22 | R>W | No |
ClinGen gnomAD |
|
|
rs955148270 CA325535087 |
23 | L>F | No |
ClinGen Ensembl |
|
|
CA10323417 rs776509386 |
25 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10323415 rs747186438 |
27 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA412191161 rs1163836008 |
30 | H>L | No |
ClinGen TOPMed |
|
|
rs758662840 CA10323413 |
30 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10323412 rs746212200 |
31 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA325535066 rs923606840 |
31 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1487017921 CA412191106 |
32 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA412191127 rs1236539338 |
32 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372094766 CA10323411 |
35 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412191060 rs372094766 |
35 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763458308 CA10323408 |
37 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA10323407 rs755713509 |
37 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA10323406 rs752292581 |
38 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1435657839 CA412190958 |
39 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA412190919 rs1359555081 |
41 | K>T | No |
ClinGen gnomAD |
|
|
CA412190898 rs1319832327 |
42 | R>H | No |
ClinGen gnomAD |
|
|
CA412190897 rs1319832327 |
42 | R>L | No |
ClinGen gnomAD |
|
|
CA412190857 rs1441515126 |
44 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA412190853 rs1396080086 |
45 | R>C | No |
ClinGen gnomAD |
|
|
CA325535039 rs916864501 |
45 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs541682766 CA10323404 |
46 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774011903 CA10323403 |
47 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1335878149 CA412190670 |
53 | G>C | No |
ClinGen gnomAD |
|
|
rs547203978 CA325534797 |
53 | G>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750222036 CA10323364 |
54 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10323363 rs765086648 |
55 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
rs1603443557 CA412190630 |
55 | Y>S | No |
ClinGen Ensembl |
|
|
rs374480938 CA10323362 |
56 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412190616 rs1349510936 |
56 | P>S | No |
ClinGen gnomAD |
|
|
CA10323361 rs753790477 |
57 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs767541312 CA10323359 |
59 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs767541312 CA412190548 |
59 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA325534780 rs899145706 |
61 | S>R | No |
ClinGen Ensembl |
|
|
rs1039032441 CA325534777 |
64 | V>L | No |
ClinGen TOPMed |
|
|
CA10323357 rs759626443 |
65 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412190449 rs759626443 |
65 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3213445 CA412190435 |
66 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_020029 rs3213445 CA10323355 |
66 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10323354 rs763149106 |
67 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773643281 CA10323353 |
70 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1467253625 CA412190360 |
71 | G>V | No |
ClinGen gnomAD |
|
|
CA10323351 rs770295647 |
74 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs762041457 CA10323347 |
77 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10323348 CA325534751 rs769084833 |
77 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412190261 rs769084833 |
77 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323345 rs145748704 |
78 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10323346 rs145748704 |
78 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10323344 rs745528078 |
80 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201984897 CA10323341 |
81 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757071116 CA10323342 |
81 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763993750 CA10323340 |
82 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs767400921 CA325534729 |
84 | V>G | No |
ClinGen Ensembl |
|
|
rs1186598855 CA412190180 |
84 | V>I | No |
ClinGen gnomAD |
|
|
rs146428319 CA10323338 |
85 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763177781 CA10323336 |
88 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs765657791 CA10323333 |
93 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323331 rs530492283 |
93 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750571393 CA10323312 |
95 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1199586730 CA412189858 |
96 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs762186101 CA10323310 |
96 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10323309 rs754252939 |
99 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323308 rs761189859 |
101 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761189859 CA10323307 |
101 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428380981 CA412189755 |
102 | Q>K | No |
ClinGen TOPMed |
|
|
rs535198476 CA10323305 |
103 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10323304 rs535198476 |
103 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571187466 CA10323301 |
104 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10323302 rs571187466 |
104 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773906317 CA10323303 |
104 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777565184 CA10323299 |
106 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10323298 rs769497705 |
107 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412189662 rs1332494606 |
108 | S>T | No |
ClinGen TOPMed |
|
|
CA10323297 rs748078081 |
109 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412189621 rs1282219348 |
111 | I>V | No |
ClinGen TOPMed |
|
|
CA412189604 rs1281695466 |
112 | F>C | No |
ClinGen gnomAD |
|
|
CA412189603 CA10323295 rs755016176 |
112 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750519832 CA10323294 |
114 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA412189564 rs1210532119 |
115 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760981606 CA412189554 |
116 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760981606 CA10323289 COSM1644508 |
116 | V>I | salivary_gland [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760981606 CA10323290 |
116 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536660086 CA10323288 |
117 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 118 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10323287 rs199841221 |
119 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1412686966 CA412189494 |
120 | G>D | No |
ClinGen gnomAD |
|
|
rs1004431145 CA325534501 |
121 | I>T | No |
ClinGen TOPMed |
|
|
rs773781791 CA10323285 |
121 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575354075 CA325534499 |
122 | F>I | No |
ClinGen TOPMed |
|
|
rs1017646306 CA325534490 |
122 | F>L | No |
ClinGen gnomAD |
|
|
CA10323284 rs770439408 |
122 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323283 rs762542847 |
123 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA412189422 rs569675787 |
125 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs569675787 CA325534473 |
125 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA10323280 rs150050955 |
125 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150050955 CA412189418 |
125 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs569675787 CA10323281 |
125 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs371625675 CA10323279 |
127 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754553367 CA10323277 CA325534462 |
129 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224409975 CA412189333 |
131 | L>F | No |
ClinGen gnomAD |
|
|
CA412189327 rs1412078861 |
131 | L>R | No |
ClinGen TOPMed |
|
|
CA412189301 rs1305243106 |
133 | C>Y | No |
ClinGen TOPMed |
|
|
CA412189283 rs1335716130 |
134 | Y>S | No |
ClinGen TOPMed |
|
|
rs781052948 CA10323276 |
135 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768645884 CA10323275 |
138 | M>I | No |
ClinGen ExAC |
|
|
CA10323274 rs747008271 |
140 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA325534440 rs1054574779 |
141 | M>I | No |
ClinGen TOPMed |
|
|
rs369796629 CA10323273 |
141 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA325534433 rs1030356387 |
142 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10323272 rs757457590 |
143 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA412189061 rs1318846087 |
145 | T>I | No |
ClinGen gnomAD |
|
|
CA10323271 rs140085174 |
146 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10323270 rs777814034 |
148 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA412188987 rs1418266377 |
150 | R>S | No |
ClinGen TOPMed |
|
|
rs1475327721 CA412188986 |
151 | I>V | No |
ClinGen gnomAD |
|
|
rs1349728103 CA412188868 |
154 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA412188845 rs1169641492 |
155 | C>R | No |
ClinGen gnomAD |
|
|
rs370363463 COSM1035530 CA10323247 |
157 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs758957650 CA10323246 |
157 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412188805 rs1433893931 |
158 | L>F | No |
ClinGen gnomAD |
|
|
rs764866554 CA10323244 |
161 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10323242 rs368302579 |
162 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10323243 rs761355935 |
162 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325534240 rs1051372637 |
163 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1273852337 CA412188689 |
165 | M>I | No |
ClinGen gnomAD |
|
|
rs771842010 CA10323239 |
165 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771842010 CA10323238 |
165 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553479143 CA325534235 |
168 | S>G | No |
ClinGen 1000Genomes |
|
|
CA412188628 rs1233848722 |
169 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745888678 CA10323237 |
170 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs182821554 CA10323235 |
175 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10323234 rs748289383 |
175 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412188560 rs1369074518 |
176 | L>R | No |
ClinGen gnomAD |
|
|
rs1489905326 CA412188544 |
177 | P>L | No |
ClinGen Ensembl |
|
|
CA412188553 rs1168557724 |
177 | P>S | No |
ClinGen gnomAD |
|
|
rs1368611139 CA412188529 |
178 | V>G | No |
ClinGen TOPMed |
|
|
rs755215674 CA10323232 |
178 | V>L | No |
ClinGen ExAC |
|
|
rs1174059011 CA412188520 |
179 | P>S | No |
ClinGen gnomAD |
|
|
rs1184552350 CA412188503 |
180 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412188486 rs1569047400 |
181 | V>M | No |
ClinGen Ensembl |
|
|
CA412188431 rs1160190815 |
185 | I>V | No |
ClinGen gnomAD |
|
|
rs780401114 CA412188418 |
187 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10323229 rs147502032 |
187 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147502032 CA10323228 |
187 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780401114 CA10323230 |
187 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757723879 CA10323205 |
190 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967399238 CA325534086 |
192 | V>L | No |
ClinGen Ensembl |
|
|
CA10323203 rs777496117 |
193 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755817678 CA10323202 |
193 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755817678 CA412188370 |
193 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412188367 rs1331111959 |
194 | P>A | No |
ClinGen TOPMed |
|
|
CA10323200 rs767187431 |
195 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA412188359 rs1371063579 |
195 | L>W | No |
ClinGen gnomAD |
|
|
CA412188354 rs1304125648 |
196 | L>S | No |
ClinGen gnomAD |
|
|
rs17848455 CA325534061 |
198 | D>Y | No |
ClinGen Ensembl |
|
|
CA412188329 rs990380673 CA325534059 |
199 | E>D | No |
ClinGen gnomAD |
|
|
rs759336544 CA10323199 |
199 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs143125736 CA325534055 |
200 | E>D | No |
ClinGen ESP |
|
|
CA412188328 rs1473686329 |
200 | E>K | No |
ClinGen gnomAD |
|
|
rs760684772 COSM580562 CA10323197 |
203 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10323195 rs776687266 |
203 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10323196 rs776687266 |
203 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs772844406 CA10323194 |
204 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs772844406 CA325533992 |
204 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186129910 CA412188291 |
205 | E>G | No |
ClinGen gnomAD |
|
|
CA10323192 rs370958863 |
207 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412188276 rs1358954461 |
208 | A>T | No |
ClinGen gnomAD |
|
|
rs772211998 CA10323191 |
210 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325533975 rs75678173 |
211 | F>S | No |
ClinGen Ensembl |
|
|
CA325533981 rs552630840 |
211 | F>V | No |
ClinGen Ensembl |
|
|
CA325533971 rs377748125 |
212 | Q>* | No |
ClinGen ESP |
|
|
CA10323190 rs140797488 |
212 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300398613 CA412188237 |
213 | D>E | No |
ClinGen gnomAD |
|
|
rs772000582 CA10323189 |
213 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1274659115 CA412188230 |
214 | K>N | No |
ClinGen TOPMed |
|
|
CA412188232 rs1228748800 |
214 | K>R | No |
ClinGen TOPMed |
|
|
rs1306185814 CA412188224 |
215 | T>I | No |
ClinGen TOPMed |
|
| rs1433021617 | 218 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10323187 rs373379091 |
219 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324507046 CA412188199 |
220 | Q>K | No |
ClinGen gnomAD |
|
|
rs777402838 CA10323186 |
224 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747694629 CA10323184 |
225 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs780850388 CA412188140 |
226 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323183 rs780850388 |
226 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323180 rs751302367 |
228 | W>* | No |
ClinGen ExAC |
|
|
rs955553966 CA325533945 |
228 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs370482807 CA325533941 |
232 | N>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 233 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA325533939 rs199949985 |
233 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1217017489 CA412187956 |
234 | V>L | No |
ClinGen gnomAD |
|
|
rs1217017489 CA412187943 |
234 | V>M | No |
ClinGen gnomAD |
|
|
rs1050179107 CA325533892 |
235 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 236 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112845250 CA325533888 |
236 | D>G | No |
ClinGen Ensembl |
|
|
rs1240605149 CA412187912 |
236 | D>H | No |
ClinGen TOPMed |
|
|
rs747636429 CA10323166 |
238 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1000637581 CA325533881 |
238 | W>R | No |
ClinGen TOPMed |
|
|
CA325533866 rs111267458 |
239 | E>* | No |
ClinGen Ensembl |
|
|
CA412187814 rs1489131018 |
240 | E>K | No |
ClinGen gnomAD |
|
|
rs780573770 CA10323165 |
242 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412187753 rs1470825505 |
242 | I>S | No |
ClinGen TOPMed |
|
|
CA10323164 rs374942225 |
245 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10323163 rs373214555 |
245 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412187695 rs1400792432 |
246 | G>D | No |
ClinGen TOPMed |
|
|
rs1041804602 CA325533858 |
246 | G>S | No |
ClinGen TOPMed |
|
|
CA325533853 rs949873981 |
248 | S>N | No |
ClinGen TOPMed |
|
|
rs765107256 CA10323159 |
249 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323160 rs765107256 |
249 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412187630 rs1429655212 |
249 | P>S | No |
ClinGen TOPMed |
|
|
CA412187614 rs1603443478 |
250 | L>F | No |
ClinGen Ensembl |
|
|
rs757195723 CA10323158 |
250 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1437774396 CA412187604 |
251 | M>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10323156 rs148070553 |
254 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 255 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283221677 CA412187507 |
256 | Y>C | No |
ClinGen TOPMed |
|
|
CA10323152 rs763362407 |
259 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10323154 rs369488131 |
259 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766741787 CA10323153 |
259 | M>T | No |
ClinGen ExAC |
|
|
rs1021058086 CA325533194 |
260 | D>Y | No |
ClinGen TOPMed |
|
|
rs1259205344 CA412185666 |
263 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412185626 rs1291749099 |
266 | N>D | No |
ClinGen gnomAD |
|
|
CA10323126 rs17848457 CA412185582 |
268 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10323127 rs760052085 |
268 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10323124 rs745583431 |
269 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323123 rs778660878 |
270 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412185548 rs1362375662 |
270 | Q>P | No |
ClinGen gnomAD |
|
|
CA325533183 rs770676798 |
272 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323122 rs770676798 |
272 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323121 rs749141897 |
273 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs777526020 CA10323120 |
273 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777526020 CA412185477 |
273 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777526020 CA412185486 |
273 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423058127 CA412185447 |
275 | G>* | No |
ClinGen gnomAD |
|
|
rs184510872 CA10323119 |
276 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751624920 CA10323118 |
277 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA10323117 rs200933686 |
278 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323116 rs201673605 |
280 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10323115 rs201673605 |
280 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309935674 CA412185310 |
281 | M>I | No |
ClinGen TOPMed |
|
|
rs1186208922 CA412185342 |
281 | M>V | No |
ClinGen gnomAD |
|
|
rs1003036601 CA325533168 |
282 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA412185281 rs1003036601 |
282 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10323111 rs764447498 CA10323112 |
283 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412185260 rs1358406953 |
283 | M>T | No |
ClinGen gnomAD |
|
|
rs762042422 CA10323113 |
283 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1213966936 CA412185215 |
284 | Y>C | No |
ClinGen TOPMed |
|
|
CA412185193 rs1230479867 |
285 | R>C | No |
ClinGen gnomAD |
|
|
rs141802871 CA10323110 COSM1417174 |
285 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412185174 rs1198187076 |
286 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA412185175 rs1198187076 |
286 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10323109 rs138696904 |
286 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10323106 rs773955469 |
290 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566795408 CA10323105 |
290 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10323104 rs748980184 |
292 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773065581 CA10323103 |
293 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs769614560 CA10323102 |
294 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325533089 rs964598540 |
296 | V>G | No |
ClinGen TOPMed |
|
|
rs375539120 CA10323089 CA412184861 |
296 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA10323088 rs765881903 |
297 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762736324 CA10323087 |
301 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1603443384 CA412184754 |
302 | V>M | No |
ClinGen Ensembl |
|
|
CA412184722 rs1178257020 |
304 | M>I | No |
ClinGen TOPMed |
|
|
CA325533077 rs948684330 |
304 | M>T | No |
ClinGen Ensembl |
|
|
rs772871281 CA10323086 |
304 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA412184699 rs1298060892 |
306 | S>Y | No |
ClinGen gnomAD |
|
|
CA10323083 rs776668369 |
308 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10323082 rs768735815 |
310 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1417041802 CA412184587 |
312 | M>T | No |
ClinGen gnomAD |
|
|
rs779050447 CA10323080 |
312 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs757412731 CA10323079 |
313 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1200939678 CA412184568 |
313 | F>L | No |
ClinGen gnomAD |
|
|
CA10323078 rs749579793 |
313 | F>S | No |
ClinGen ExAC |
|
|
CA412184566 rs1405761785 |
314 | N>D | No |
ClinGen TOPMed |
|
|
CA412184559 rs1483969027 |
314 | N>T | No |
ClinGen gnomAD |
|
|
rs1202424570 CA412184547 |
315 | T>A | No |
ClinGen gnomAD |
|
|
rs201769569 COSM3066115 CA10323077 |
315 | T>S | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs992685338 CA325533057 |
316 | T>I | No |
ClinGen Ensembl |
|
|
CA10323074 rs778804317 |
317 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753087333 CA10323075 |
317 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323073 rs370978706 |
318 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10323071 rs765973798 |
319 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 319 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2269383 VAR_021854 CA10323069 |
320 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10323067 rs761650876 |
321 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10323068 rs765010676 |
321 | K>T | No |
ClinGen ExAC |
|
|
rs753591945 CA10323032 |
325 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760472405 CA10323030 |
326 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323029 rs752450827 |
327 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA412183072 rs1603443354 |
328 | H>P | No |
ClinGen Ensembl |
|
|
CA10323027 rs759461743 |
329 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323023 rs191569295 |
333 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765350347 CA10323024 |
333 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323020 rs748307991 |
335 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10323018 rs772627134 |
336 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10323019 rs772627134 |
336 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746417069 CA10323017 |
337 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10323014 rs756865565 |
341 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA10323013 rs748835799 |
342 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10323012 rs777512750 |
342 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470088581 CA412182577 |
344 | F>I | No |
ClinGen gnomAD |
|
|
CA10323011 rs551540999 |
345 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412182454 rs1376228512 |
347 | W>* | No |
ClinGen gnomAD |
|
|
rs1185530161 CA412182436 |
348 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1185530161 CA412182439 |
348 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767275036 CA10323009 |
349 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10323007 rs751539236 |
351 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs377484724 CA10323005 COSM3939696 |
352 | A>T | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776703603 CA10323004 |
353 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776703603 CA412182298 |
353 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144936442 CA10323002 |
353 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10323003 rs144936442 |
353 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412182251 rs1375977601 |
356 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412182168 rs1434400627 |
360 | L>V | No |
ClinGen TOPMed |
|
|
CA325531717 rs199498809 |
361 | E>K | No |
ClinGen gnomAD |
|
|
CA10323001 rs775907354 |
362 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412182080 rs1320892467 |
364 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1157383003 CA412182002 |
369 | D>N | No |
ClinGen gnomAD |
|
|
CA412181973 rs1603443349 |
370 | D>A | No |
ClinGen Ensembl |
|
|
CA412181962 rs1165990261 |
370 | D>E | No |
ClinGen gnomAD |
|
|
rs774955656 CA10322998 |
370 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771581465 CA10322997 |
371 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA412181938 rs1187387065 |
372 | S>P | No |
ClinGen gnomAD |
|
|
CA412181917 rs1603443348 |
373 | P>A | No |
ClinGen Ensembl |
|
|
CA412181909 rs748743693 |
373 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10322996 rs748743693 |
373 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA325531698 rs756346991 |
374 | P>L | No |
ClinGen Ensembl |
|
|
rs755781796 CA10322994 |
374 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10322993 rs747804826 |
377 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs781010037 CA10322992 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10322991 rs754689979 |
379 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563163300 CA10322990 |
380 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1359473999 CA412181738 |
385 | T>A | No |
ClinGen gnomAD |
|
|
CA325531688 rs947734932 |
386 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1430518843 CA412181698 |
387 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758334496 CA10322988 CA10322989 |
388 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA412181520 rs1197054658 |
389 | R>S | No |
ClinGen gnomAD |
|
|
CA325531683 rs750679059 |
389 | R>T | No |
ClinGen Ensembl |
|
|
CA10322965 rs539995250 |
391 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA325531602 rs953654866 |
391 | E>Q | No |
ClinGen TOPMed |
|
|
CA412181458 rs1178844059 |
392 | W>* | No |
ClinGen gnomAD |
|
|
rs752260496 CA10322964 |
393 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369593888 CA10322963 |
394 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10322962 rs751963490 |
395 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA412181405 rs751963490 |
395 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766904019 CA10322961 |
395 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10322960 COSM1035528 rs572856960 |
396 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM1035527 CA10322959 rs150309698 |
396 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA325531596 rs201454560 |
400 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs770356762 CA10322958 |
400 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA10322957 rs761171877 |
402 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs776207880 CA10322956 |
404 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10322955 rs768291997 |
405 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383235391 CA412181133 COSM1291268 |
405 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA412181087 rs1408606241 |
407 | A>P | No |
ClinGen gnomAD |
|
|
rs1404154464 CA412181061 |
408 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10322954 rs746721222 |
408 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779801967 CA10322953 |
410 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412180937 rs1161272280 |
412 | I>V | No |
ClinGen gnomAD |
|
|
rs745702877 CA10322951 |
413 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322950 rs778663440 |
414 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10322949 COSM3694154 rs757229551 |
414 | R>H | large_intestine Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10322947 rs140100981 |
416 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs992745003 CA325531586 |
418 | F>L | No |
ClinGen gnomAD |
|
|
rs766739758 CA10322944 COSM1202209 |
419 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1453538929 CA412180500 |
425 | S>F | No |
ClinGen gnomAD |
|
|
CA10322940 rs762448301 |
426 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10322939 rs546597240 |
426 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10322938 VAR_024188 rs8142477 |
427 | S>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs8142477 CA412180435 |
427 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs8142477 CA412180446 |
427 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141820211 CA10322937 |
428 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA325531580 rs546046921 |
429 | D>H | No |
ClinGen Ensembl |
|
|
CA325531579 rs868445792 |
431 | E>K | No |
ClinGen gnomAD |
|
|
CA10322934 rs745589803 |
432 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA412180239 rs1446003067 |
433 | E>G | No |
ClinGen gnomAD |
|
|
rs964312394 CA325531577 |
434 | A>T | No |
ClinGen gnomAD |
|
|
CA10322933 rs774272143 |
434 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322932 rs770762991 |
435 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10322931 rs749300669 |
436 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412180189 rs749300669 |
436 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755069522 CA10322929 |
440 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164363873 CA412180118 |
440 | G>S | No |
ClinGen TOPMed |
|
|
rs1247337562 CA412180062 |
442 | A>T | No |
ClinGen gnomAD |
|
|
rs144799109 COSM1202211 CA10322926 |
445 | H>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10322925 rs750746650 |
446 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs765690915 CA10322924 |
447 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1359659519 CA412179908 |
448 | C>F | No |
ClinGen gnomAD |
|
|
CA10322923 rs757683021 |
448 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1569042638 CA412179899 |
449 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 450 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10322900 rs144280175 |
453 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10322899 rs759082970 |
453 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA412179696 rs1194084589 |
457 | F>L | No |
ClinGen gnomAD |
|
|
CA412179658 rs1317553931 |
459 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 459 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317553931 CA412179660 |
459 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762754961 CA10322896 |
460 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1274257882 CA412179583 |
463 | K>E | No |
ClinGen gnomAD |
|
|
rs557610208 CA325531489 |
464 | N>S | No |
ClinGen Ensembl |
|
|
rs769853021 CA10322894 |
466 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 466 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 466 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412179498 rs1326283217 |
468 | G>V | No |
ClinGen gnomAD |
|
|
CA10322893 rs761897805 |
469 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1303030591 CA412179435 |
470 | N>I | No |
ClinGen gnomAD |
|
|
CA412179359 rs1178114464 |
473 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775685871 CA10322892 |
473 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412179347 rs1423499725 |
474 | A>E | No |
ClinGen gnomAD |
|
|
CA412179355 rs1471183090 |
474 | A>T | No |
ClinGen gnomAD |
|
|
CA412179344 rs1423499725 |
474 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1336734093 CA412179318 |
475 | W>* | No |
ClinGen gnomAD |
|
|
CA10322890 rs745961098 |
476 | A>T | No |
ClinGen ExAC |
|
|
rs779147264 CA10322889 |
479 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749585603 CA10322887 |
481 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA412179196 rs1205806753 |
483 | H>R | No |
ClinGen gnomAD |
|
|
rs778174538 CA10322886 |
483 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs150817976 CA325531474 |
485 | W>* | No |
ClinGen ESP TOPMed |
|
|
CA10322870 rs771178312 |
492 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA412179051 rs1282112910 |
492 | D>V | No |
ClinGen gnomAD |
|
|
rs1168924986 CA412179028 |
494 | F>L | No |
ClinGen gnomAD |
|
|
CA412179019 rs1413270860 |
494 | F>L | No |
ClinGen Ensembl |
|
|
COSM1190500 CA10322867 rs773536548 |
499 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781685755 CA10322864 |
502 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781685755 CA412178926 |
502 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296954765 CA412178874 |
506 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10322862 rs779490273 |
508 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322861 rs779490273 |
508 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322858 rs536023069 |
510 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10322857 rs368305362 |
511 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10322856 rs368305362 |
511 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10322854 rs141870572 |
513 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10322853 rs71318421 |
515 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394848322 CA412178769 |
516 | T>P | No |
ClinGen TOPMed |
|
|
CA10322852 rs568789168 |
516 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149756287 CA412178749 |
517 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149756287 CA10322849 |
517 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773375016 COSM1035525 CA10322850 |
517 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs71318420 CA325531451 |
518 | L>V | No |
ClinGen Ensembl |
|
|
rs1259783543 CA412178731 |
519 | Q>R | No |
ClinGen gnomAD |
|
|
rs1218803024 CA412178676 |
522 | I>F | No |
ClinGen gnomAD |
|
|
CA10322848 rs748482758 |
523 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1273351060 CA412178631 |
524 | K>T | No |
ClinGen gnomAD |
|
|
rs776931426 CA325531449 |
525 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322847 rs776931426 |
525 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745314788 CA10322822 |
526 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10322821 rs778631811 |
527 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs770692414 CA10322820 |
528 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA412177055 rs1175311970 |
529 | V>A | No |
ClinGen TOPMed |
|
|
CA325531331 rs946628271 |
530 | I>V | No |
ClinGen Ensembl |
|
|
CA10322817 VAR_011739 rs470117 |
531 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1251110253 CA412176956 |
533 | S>F | No |
ClinGen gnomAD |
|
|
CA10322816 rs752551211 |
535 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs200572653 CA10322815 |
536 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10322814 rs200572653 |
536 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412176884 rs1258148412 |
537 | A>V | No |
ClinGen gnomAD |
|
|
CA10322813 rs542380962 |
539 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412176837 rs1167178527 |
540 | L>S | No |
ClinGen gnomAD |
|
|
rs1242456251 CA412176826 |
541 | A>G | No |
ClinGen gnomAD |
|
|
rs1242456251 CA412176824 |
541 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10322810 rs753963691 |
543 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs776000774 CA10322807 |
544 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776000774 CA10322808 |
544 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322806 rs772701834 |
546 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190453295 CA412176693 |
548 | C>* | No |
ClinGen TOPMed |
|
|
rs541606300 CA10322805 |
548 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412176689 rs1437355445 |
549 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748854494 CA10322802 |
554 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs995023186 CA325531319 |
555 | G>D | No |
ClinGen Ensembl |
|
|
rs777233950 CA10322801 |
555 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs769492918 CA10322800 |
556 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410605313 CA412176539 |
557 | G>A | No |
ClinGen TOPMed |
|
|
CA412176548 rs1199146626 |
557 | G>S | No |
ClinGen gnomAD |
|
|
CA325531317 rs963608633 |
558 | L>F | No |
ClinGen Ensembl |
|
|
rs754889760 CA10322797 |
559 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10322795 rs779994264 |
562 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA412176427 rs757232205 |
563 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322793 rs143499448 |
563 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10322794 rs757232205 |
563 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322792 rs764152784 |
568 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10322791 rs761024071 |
569 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA412176259 rs1399078762 |
571 | Q>R | No |
ClinGen TOPMed |
|
|
CA10322789 rs768041231 |
572 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774951399 CA10322787 |
573 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148842805 CA10322786 |
573 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356206311 CA412176193 |
575 | Q>P | No |
ClinGen TOPMed |
|
|
rs537059868 CA10322784 |
576 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1423653863 CA412176164 |
577 | A>G | No |
ClinGen gnomAD |
|
|
rs145751063 CA10322780 |
580 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145751063 CA10322781 |
580 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138391114 CA10322782 |
580 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412176046 rs1216612629 |
581 | D>E | No |
ClinGen gnomAD |
|
|
rs764845864 CA10322766 |
582 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs879299176 CA325531272 |
583 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10322765 rs761346828 |
584 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA412175977 rs1329206260 |
585 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10322764 rs547204273 |
586 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547204273 CA412175937 |
586 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412175916 rs1159446674 |
587 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1391411397 CA412175915 |
588 | T>P | No |
ClinGen gnomAD |
|
|
CA412175751 rs1485994004 |
593 | M>I | No |
ClinGen TOPMed |
|
|
CA412175629 rs1212933170 |
595 | R>K | No |
ClinGen TOPMed |
|
|
rs746735566 CA10322762 |
596 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA412175593 rs1168061715 |
596 | M>V | No |
ClinGen gnomAD |
|
|
rs745866439 CA10322760 |
598 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745866439 CA412175504 |
598 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1417171 rs745866439 CA10322759 |
598 | R>Q | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775418955 CA10322761 |
598 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10322758 rs141885850 |
601 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141885850 CA10322757 |
601 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412175438 rs1186772144 |
601 | R>W | No |
ClinGen TOPMed |
|
|
CA325531267 rs147955265 |
603 | E>Q | No |
ClinGen ESP |
|
|
rs1438434944 CA412175388 |
604 | T>S | No |
ClinGen gnomAD |
|
|
CA412175379 rs1240332589 |
605 | V>M | No |
ClinGen gnomAD |
|
|
rs571519095 CA10322756 |
606 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412175342 rs1457436269 |
607 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA412175318 rs1437127778 |
608 | C>S | No |
ClinGen TOPMed |
|
|
rs748040203 CA325531264 |
609 | T>I | No |
ClinGen TOPMed |
|
|
CA325531265 rs748040203 |
609 | T>N | No |
ClinGen TOPMed |
|
|
rs755318861 CA10322754 |
610 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs750905232 CA10322750 |
611 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758805208 CA10322751 |
611 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs766819121 CA10322752 |
611 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10322749 rs144863640 |
613 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753347209 CA10322747 |
614 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA412175041 rs1434635398 |
616 | V>A | No |
ClinGen TOPMed |
|
|
rs370319926 COSM1284286 CA10322745 |
617 | Q>K | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA325531257 rs1015594627 |
617 | Q>R | No |
ClinGen TOPMed |
|
|
CA325531256 rs868688112 |
618 | A>T | No |
ClinGen gnomAD |
|
|
CA412174923 rs377156417 |
621 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771940517 CA412174920 |
621 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10322742 rs759279643 |
621 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs377156417 CA10322744 |
621 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10322743 rs771940517 |
621 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA10322741 rs563717431 |
623 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770998857 CA10322740 |
624 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770998857 CA412174833 |
624 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748234740 CA10322739 |
625 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10322738 rs768981014 |
625 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768981014 CA10322737 |
625 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA325531230 rs111375437 |
626 | K>R | No |
ClinGen Ensembl |
|
|
rs146224883 CA10322714 |
627 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780268095 CA412174602 |
630 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA10322712 rs746236569 |
630 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322711 rs746236569 |
630 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 631 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779303402 CA10322710 |
636 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1342985929 CA412174374 |
640 | H>P | No |
ClinGen gnomAD |
|
|
rs1158020407 CA412174365 |
640 | H>Q | No |
ClinGen gnomAD |
|
|
CA325531225 rs755599953 |
643 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs755599953 CA10322706 |
643 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10322707 rs371604703 |
643 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1603443243 CA412174291 |
644 | Y>S | No |
ClinGen Ensembl |
|
|
CA10322705 rs752154261 |
645 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412174263 rs767195024 |
645 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767195024 CA10322704 |
645 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171155416 CA412174230 |
647 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1478667877 CA412174218 |
647 | A>V | No |
ClinGen gnomAD |
|
|
rs1192850527 CA412174207 |
648 | M>V | No |
ClinGen gnomAD |
|
|
rs749903461 CA10322700 |
650 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762875003 CA10322698 |
654 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1258273727 CA412174028 |
656 | H>Q | No |
ClinGen gnomAD |
|
|
CA10322696 rs190052870 |
659 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1320438508 CA412173976 |
659 | C>Y | No |
ClinGen gnomAD |
|
|
CA412173965 rs1603443236 |
660 | L>F | No |
ClinGen Ensembl |
|
|
CA10322695 rs760737224 |
662 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1804702 CA325531216 |
664 | S>F | No |
ClinGen Ensembl |
|
|
VAR_011740 rs1804702 CA325531217 |
664 | S>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1290084471 CA412173851 |
669 | V>A | No |
ClinGen TOPMed |
|
|
rs376060651 CA10322694 |
669 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376060651 CA10322693 |
669 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs565468231 CA10322692 |
670 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA325531214 rs942028894 |
671 | S>F | No |
ClinGen Ensembl |
|
|
rs774665817 CA10322691 |
672 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10322690 rs771242809 |
674 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10322689 rs749675333 |
676 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293347207 CA412173728 |
676 | E>G | No |
ClinGen TOPMed |
|
|
CA412173561 rs1360862102 |
678 | L>P | No |
ClinGen gnomAD |
|
|
CA10322675 rs759641884 |
679 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325531056 rs776707163 |
681 | P>R | No |
ClinGen Ensembl |
|
|
CA10322673 rs771154732 |
683 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200495991 CA10322672 |
683 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs889196289 CA325531048 |
684 | L>F | No |
ClinGen Ensembl |
|
|
rs1209198907 CA412173458 |
684 | L>P | No |
ClinGen TOPMed |
|
|
rs1237142956 CA412173441 |
685 | S>C | No |
ClinGen gnomAD |
|
|
rs1603443212 CA412173433 |
686 | T>P | No |
ClinGen Ensembl |
|
|
CA10322670 rs770313882 |
688 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10322668 rs531926033 |
692 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA412173238 rs1286866335 |
693 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA10322667 rs754399632 |
695 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933303732 CA325531032 |
695 | R>H | No |
ClinGen Ensembl |
|
|
rs1404427712 CA412173141 |
696 | M>I | No |
ClinGen gnomAD |
|
|
rs770930460 CA412173156 |
696 | M>L | No |
ClinGen Ensembl |
|
|
CA325531028 rs770930460 |
696 | M>V | No |
ClinGen Ensembl |
|
|
rs779790087 CA10322665 |
698 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 702 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs937046825 CA325531022 |
702 | H>Y | No |
ClinGen TOPMed |
|
|
CA325531016 rs898844790 |
704 | N>T | No |
ClinGen TOPMed |
|
|
rs750225868 CA10322662 |
705 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1037432127 CA325531011 |
706 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 707 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465491382 CA412172785 |
707 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10322660 rs757184617 COSM445187 |
708 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10322659 rs753676603 |
709 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764112293 CA10322658 |
711 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10322656 rs751641817 |
712 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412172505 rs1180438662 |
714 | P>L | No |
ClinGen gnomAD |
|
|
CA10322655 rs367724167 |
714 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10322638 rs751617067 |
716 | A>T | No |
ClinGen ExAC |
|
|
CA412170724 rs1196448714 |
716 | A>V | No |
ClinGen gnomAD |
|
|
rs1192003487 CA412170689 |
717 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA325530558 rs565026078 |
720 | Y>C | No |
ClinGen TOPMed |
|
|
CA10322636 rs763053353 |
722 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs975908977 CA325530535 |
724 | Y>H | No |
ClinGen Ensembl |
|
|
rs965904059 CA325530534 |
725 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1020370190 CA325530531 |
726 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA325530518 rs370023022 |
729 | E>D | No |
ClinGen Ensembl |
|
|
rs114814733 CA10322633 |
729 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412170278 rs1388871803 |
730 | N>K | No |
ClinGen TOPMed |
|
|
rs139996419 CA10322632 |
731 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199944176 CA325530507 |
732 | I>T | No |
ClinGen 1000Genomes |
|
|
rs1276702583 CA412170101 |
735 | H>Y | No |
ClinGen TOPMed |
|
|
CA10322629 rs374511828 |
738 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 740 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 741 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569038172 CA412169864 |
741 | S>L | No |
ClinGen Ensembl |
|
|
CA10322626 rs778370877 |
742 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325530489 rs1036046557 |
743 | S>L | No |
ClinGen TOPMed |
|
|
rs1461300256 CA412169792 |
744 | E>D | No |
ClinGen gnomAD |
|
|
CA10322625 rs770622031 |
745 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550207536 CA10322624 |
745 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201978200 CA10322603 |
747 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375316854 CA10322602 |
749 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10322601 rs745927071 |
749 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1437011469 CA412169640 |
750 | F>C | No |
ClinGen gnomAD |
|
|
CA412169606 rs1279316570 |
752 | N>D | No |
ClinGen gnomAD |
|
|
CA412169539 rs1279029202 |
754 | I>T | No |
ClinGen gnomAD |
|
|
rs368899928 CA325530377 |
754 | I>V | No |
ClinGen gnomAD |
|
|
CA10322599 rs757386433 |
755 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200771908 CA325530368 |
755 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10322598 rs754049281 |
757 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927384139 CA325530355 |
759 | L>P | No |
ClinGen TOPMed |
|
|
CA325530343 rs1001542408 |
760 | D>G | No |
ClinGen Ensembl |
|
|
rs142616949 CA10322594 |
761 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412169367 rs1357195172 |
762 | A>T | No |
ClinGen TOPMed |
|
|
CA412169347 rs1173143748 |
762 | A>V | No |
ClinGen gnomAD |
|
|
rs1024493369 CA412169301 |
764 | L>I | No |
ClinGen gnomAD |
|
|
rs1024493369 CA325530340 COSM726702 |
764 | L>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 766 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10322592 rs773703154 |
769 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1469762800 CA412169068 |
770 | A>V | No |
ClinGen gnomAD |
|
|
rs150762471 CA325530320 |
772 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772795236 CA412169011 |
772 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10322590 rs150762471 |
772 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1803460 CA325530319 |
772 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10322589 rs772795236 |
772 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q92523
1 regional properties for Q92523
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| active_site | Serine carboxypeptidase, serine active site | 262 - 269 | IPR018202 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.21 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| carnitine O-palmitoyltransferase activity | Catalysis of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| carnitine metabolic process | The chemical reactions and pathways involving carnitine (hydroxy-trimethyl aminobutyric acid), a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane. |
| carnitine shuttle | The transfer of acyl groups to and from acyl-CoA molecules to form O-acylcarnitine, which can exchange across the mitochondrial inner membrane with unacylated carnitine. |
| 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 metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| long-chain fatty acid transport | The directed movement of long-chain fatty acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| response to blue light | 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 blue light stimulus. Blue light is electromagnetic radiation with a wavelength of between 440 and 500nm. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P97742 | Cpt1a | Carnitine O-palmitoyltransferase 1, liver isoform | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEAHQAVAF | QFTVTPDGVD | FRLSREALKH | VYLSGINSWK | KRLIRIKNGI | LRGVYPGSPT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SWLVVIMATV | GSSFCNVDIS | LGLVSCIQRC | LPQGCGPYQT | PQTRALLSMA | IFSTGVWVTG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IFFFRQTLKL | LLCYHGWMFE | MHGKTSNLTR | IWAMCIRLLS | SRHPMLYSFQ | TSLPKLPVPR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSATIQRYLE | SVRPLLDDEE | YYRMELLAKE | FQDKTAPRLQ | KYLVLKSWWA | SNYVSDWWEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YIYLRGRSPL | MVNSNYYVMD | LVLIKNTDVQ | AARLGNIIHA | MIMYRRKLDR | EEIKPVMALG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IVPMCSYQME | RMFNTTRIPG | KDTDVLQHLS | DSRHVAVYHK | GRFFKLWLYE | GARLLKPQDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EMQFQRILDD | PSPPQPGEEK | LAALTAGGRV | EWAQARQAFF | SSGKNKAALE | AIERAAFFVA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LDEESYSYDP | EDEASLSLYG | KALLHGNCYN | RWFDKSFTLI | SFKNGQLGLN | AEHAWADAPI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IGHLWEFVLG | TDSFHLGYTE | TGHCLGKPNP | ALAPPTRLQW | DIPKQCQAVI | ESSYQVAKAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ADDVELYCFQ | FLPFGKGLIK | KCRTSPDAFV | QIALQLAHFR | DRGKFCLTYE | ASMTRMFREG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RTETVRSCTS | ESTAFVQAMM | EGSHTKADLR | DLFQKAAKKH | QNMYRLAMTG | AGIDRHLFCL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YLVSKYLGVS | SPFLAEVLSE | PWRLSTSQIP | QSQIRMFDPE | QHPNHLGAGG | GFGPVADDGY |
| 730 | 740 | 750 | 760 | 770 | |
| GVSYMIAGEN | TIFFHISSKF | SSSETNAQRF | GNHIRKALLD | IADLFQVPKA | YS |