P51797
PR
Gene name |
CLCN6 |
Protein name |
H(+)/Cl(-) exchange transporter 6 |
Names |
Chloride channel protein 6, ClC-6, Chloride transport protein 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1185 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for P51797
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8JPJ | EM | 350 A | A/B | 1-869 | PDB |
| 8JPO | EM | 340 A | A/B | 1-869 | PDB |
| 8JPR | EM | 340 A | A/B | 1-869 | PDB |
| AF-P51797-F1 | Predicted | AlphaFoldDB |
701 variants for P51797
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001291033 RCV001290031 rs1644918844 VAR_085384 |
553 | Y>C | Global developmental delay Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities CONRIBA; strongly slowed gating and increased current amplitudes [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
CA17977632 rs1010248218 |
2 | A>T | No |
ClinGen TOPMed |
|
|
rs1307955579 CA338423876 |
2 | A>V | No |
ClinGen Ensembl |
|
|
rs1319057021 CA338423877 |
3 | G>R | No |
ClinGen gnomAD |
|
|
CA338423885 rs1570507296 |
4 | C>G | No |
ClinGen Ensembl |
|
|
rs962654026 CA17977635 |
5 | R>G | No |
ClinGen Ensembl |
|
|
CA595841 rs780153104 |
6 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA338423897 rs1307720597 |
6 | G>R | No |
ClinGen TOPMed |
|
|
CA338423898 rs1307720597 |
6 | G>W | No |
ClinGen TOPMed |
|
|
CA595843 rs755256371 |
7 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA595844 rs150143694 |
8 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338423916 rs1395215831 |
9 | C>R | No |
ClinGen gnomAD |
|
|
rs77130610 CA595853 |
13 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338424024 rs770543299 |
17 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA338424029 rs1225435362 |
17 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs770543299 CA595855 |
17 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759262209 CA595857 |
21 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA595856 rs776321884 |
21 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs769631586 CA595858 |
23 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA595861 rs767943876 |
24 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168074088 CA338424109 |
25 | T>I | No |
ClinGen TOPMed |
|
|
rs761207554 CA595863 |
26 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1224733745 CA338424111 |
26 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17977742 rs1047400266 |
29 | L>P | No |
ClinGen TOPMed |
|
|
rs1055584413 CA17978324 |
30 | T>N | No |
ClinGen Ensembl |
|
|
CA17978330 rs775251730 |
31 | I>V | No |
ClinGen TOPMed |
|
|
CA338424388 rs1303363057 |
34 | E>A | No |
ClinGen gnomAD |
|
|
rs777127139 CA595886 |
35 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1437010892 CA338424404 |
36 | Q>H | No |
ClinGen gnomAD |
|
|
COSM1294805 CA338424402 rs1303558451 |
36 | Q>R | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 37 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338424406 rs1372498907 |
37 | E>K | No |
ClinGen TOPMed |
|
|
rs1372498907 CA338424407 |
37 | E>Q | No |
ClinGen TOPMed |
|
|
CA595889 rs765379751 |
39 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA595892 rs377627467 |
40 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338424430 rs1361981884 |
40 | D>H | No |
ClinGen gnomAD |
|
|
rs751462670 CA595893 |
41 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA595894 rs757134976 |
44 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs200859486 CA17978397 |
45 | R>G | No |
ClinGen 1000Genomes |
|
|
CA338424483 rs1211406468 |
46 | K>E | No |
ClinGen gnomAD |
|
|
CA595895 rs781211840 |
47 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA595896 rs745834239 |
48 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779413776 CA595915 |
51 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753327858 CA595916 |
52 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA595917 rs754450719 |
53 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA338425411 rs1570519033 |
55 | R>G | No |
ClinGen Ensembl |
|
|
CA338425414 rs1468963135 |
55 | R>H | No |
ClinGen gnomAD |
|
|
rs747820320 CA595919 |
56 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA338425432 rs1238713236 |
57 | I>V | No |
ClinGen TOPMed |
|
|
CA338425449 rs1460591535 |
58 | N>S | No |
ClinGen gnomAD |
|
|
CA338425461 rs1323312095 |
59 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA595920 rs771261242 |
61 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1441576394 CA338425495 |
63 | E>K | No |
ClinGen gnomAD |
|
|
CA338425518 rs1328054384 |
65 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA595922 rs746358122 |
68 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA595951 rs762110634 |
72 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA595952 rs370967685 |
73 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338425682 rs1294959136 |
74 | R>G | No |
ClinGen gnomAD |
|
|
CA595953 rs773306820 |
74 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1299044911 CA338425709 |
76 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766108834 CA595955 |
77 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA17987899 rs895892545 |
78 | A>T | No |
ClinGen Ensembl |
|
|
CA17987903 rs1010691032 |
78 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1204139184 CA338425750 |
79 | V>A | No |
ClinGen gnomAD |
|
|
rs759430773 CA595957 |
79 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764723407 CA595958 |
82 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA595959 rs752263716 |
83 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA338425811 rs1429821594 |
83 | V>L | No |
ClinGen gnomAD |
|
|
rs751206705 CA595962 |
84 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA338425828 rs1356346218 |
84 | V>M | No |
ClinGen TOPMed |
|
|
CA338425847 rs1570520028 |
85 | F>S | No |
ClinGen Ensembl |
|
|
rs780334882 CA595964 |
87 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756455234 CA595963 |
87 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA595965 rs749795306 COSM462724 |
89 | V>A | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1359730171 CA338425919 |
90 | C>S | No |
ClinGen TOPMed |
|
|
CA17988000 rs1043645520 |
91 | T>A | No |
ClinGen TOPMed |
|
|
CA338425956 rs1557780836 |
93 | L>V | No |
ClinGen Ensembl |
|
|
CA595989 rs771118391 |
97 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340556534 CA338426488 |
98 | V>L | No |
ClinGen TOPMed |
|
|
CA338426495 rs1247264528 |
99 | D>A | No |
ClinGen gnomAD |
|
|
CA17990193 rs899689608 |
100 | F>I | No |
ClinGen TOPMed |
|
|
CA338426515 rs1349586920 |
102 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA595993 rs775361415 |
103 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762928853 CA595994 |
103 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17990205 rs953260141 |
106 | T>I | No |
ClinGen gnomAD |
|
|
rs953260141 CA338426541 |
106 | T>N | No |
ClinGen gnomAD |
|
|
CA17990207 rs997317521 |
107 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs140118680 CA338426548 CA595997 |
107 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750127653 CA595999 |
109 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs143307470 CA596003 |
110 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596001 rs765745770 |
110 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA338426564 rs1375922888 |
110 | F>V | No |
ClinGen gnomAD |
|
|
CA596004 rs62621185 |
111 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368902990 CA596052 |
116 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596054 rs374436040 |
119 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453830591 CA338427097 |
120 | C>Y | No |
ClinGen gnomAD |
|
|
rs556415452 CA17993002 |
121 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1419084186 CA338427116 |
121 | S>I | No |
ClinGen TOPMed |
|
|
CA338427105 rs556415452 |
121 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1232606823 CA338427119 |
121 | S>R | No |
ClinGen gnomAD |
|
|
rs1258621304 CA338427138 |
122 | Q>H | No |
ClinGen gnomAD |
|
|
CA338427191 rs1183849873 |
125 | C>S | No |
ClinGen gnomAD |
|
|
CA338427205 rs1460512764 |
126 | L>F | No |
ClinGen gnomAD |
|
|
CA338427222 COSM894601 rs1392874369 |
127 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA17993022 rs780244008 |
127 | A>V | No |
ClinGen Ensembl |
|
|
rs770596340 CA596057 |
129 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1327948941 CA338427262 |
130 | L>V | No |
ClinGen gnomAD |
|
|
CA17993027 rs909779098 |
131 | L>I | No |
ClinGen TOPMed |
|
|
rs1333716988 CA338427283 |
132 | E>K | No |
ClinGen gnomAD |
|
|
CA338427308 rs1408266701 |
133 | L>F | No |
ClinGen gnomAD |
|
|
CA338427317 rs1290484565 |
134 | L>M | No |
ClinGen gnomAD |
|
|
rs776376078 CA596058 |
135 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs901812854 CA17993052 |
138 | L>V | No |
ClinGen TOPMed |
|
|
rs774848277 CA596061 |
139 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA338427448 rs1210908355 |
142 | F>L | No |
ClinGen gnomAD |
|
|
CA338427468 rs1272785471 |
144 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA338427470 rs1272785471 |
144 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773734978 CA596064 |
147 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA338427515 rs773734978 |
147 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs767942422 CA596063 |
147 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201301950 CA596065 |
150 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs755607059 | 152 | P>= | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749895146 CA596094 |
152 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338427783 rs1557784446 |
152 | P>S | No |
ClinGen Ensembl |
|
|
CA596096 rs376070186 |
154 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1466216075 CA338427803 |
155 | A>V | No |
ClinGen gnomAD |
|
|
rs772391105 CA596098 |
156 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs748986086 CA596097 |
156 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA17993819 rs908726031 |
158 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA17993865 rs940188273 |
159 | I>M | No |
ClinGen Ensembl |
|
|
rs777007367 CA596104 |
161 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759622308 CA596105 |
162 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA338427847 rs1370878411 |
163 | K>R | No |
ClinGen gnomAD |
|
|
rs1327080406 CA338427853 |
164 | C>R | No |
ClinGen TOPMed |
|
|
CA17993885 rs144873236 |
164 | C>W | No |
ClinGen ESP |
|
|
rs1400016273 CA338427854 |
164 | C>Y | No |
ClinGen TOPMed |
|
|
rs769786753 CA596106 |
165 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs749793446 | 167 | N>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17993900 rs369425506 |
167 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs937680523 CA17993901 |
168 | G>V | No |
ClinGen Ensembl |
|
|
rs199676414 CA596109 |
169 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199676414 CA596110 |
169 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338427892 rs1272537905 |
170 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1192713808 CA338427898 |
171 | V>A | No |
ClinGen gnomAD |
|
|
rs1487463672 CA338427894 |
171 | V>M | No |
ClinGen gnomAD |
|
|
rs141347788 CA596111 |
172 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338427908 rs190702907 |
173 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190702907 CA596112 |
173 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767425938 CA596113 |
174 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA338427918 rs1394477634 |
175 | V>A | No |
ClinGen gnomAD |
|
|
rs755624300 CA596115 |
175 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779467785 CA596116 |
176 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753482229 CA596117 |
176 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368699388 CA338427926 |
177 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA596119 rs538878178 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs373167140 CA596118 |
178 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596120 rs747307169 |
181 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212054171 CA338427948 |
181 | L>P | No |
ClinGen gnomAD |
|
|
rs757593384 CA596121 |
183 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA596122 rs781688967 |
183 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA338427975 rs1319865611 |
185 | L>P | No |
ClinGen gnomAD |
|
|
rs1265843282 CA338427979 |
186 | G>E | No |
ClinGen gnomAD |
|
|
rs778204669 CA17993990 |
187 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338427998 rs1570527638 |
189 | F>L | No |
ClinGen Ensembl |
|
|
rs1249961433 CA338428002 |
190 | S>G | No |
ClinGen gnomAD |
|
|
rs975570351 CA338428056 |
196 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA596153 rs200586664 |
197 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA596154 rs200586664 |
197 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338428065 rs198400 |
198 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs198400 CA596156 VAR_023051 |
198 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA338428066 rs198400 |
198 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764776408 CA596157 |
199 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596158 rs149647864 |
201 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596160 rs767912902 |
202 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17994490 rs767912902 |
202 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973083278 CA17994491 |
203 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1422703088 CA338428119 |
206 | S>N | No |
ClinGen gnomAD |
|
|
rs750697542 CA596162 |
208 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596161 rs750697542 |
208 | S>L | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1446695347 CA338428130 |
208 | S>T | No |
ClinGen TOPMed |
|
|
CA338428142 rs1398963887 |
209 | V>E | No |
ClinGen gnomAD |
|
|
rs754422676 CA596164 |
210 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1455158906 CA338428162 |
211 | G>E | No |
ClinGen gnomAD |
|
|
CA338428169 rs1322526065 |
212 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139212698 CA596165 |
214 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338428202 rs1341811594 |
215 | P>R | No |
ClinGen gnomAD |
|
|
CA596180 rs760903472 |
217 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA596181 rs766885891 |
218 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA596183 rs755598152 |
219 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035078273 CA17995765 |
219 | S>R | No |
ClinGen TOPMed |
|
|
CA338428530 rs1368376969 |
220 | I>T | No |
ClinGen TOPMed |
|
|
rs202066883 CA596184 |
221 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202066883 CA338428537 |
221 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA596186 rs770186709 |
223 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376721923 CA596185 |
223 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596188 CA17995802 rs200555989 |
224 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs770682558 CA596189 |
226 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338428584 rs1322413276 |
229 | F>V | No |
ClinGen TOPMed |
|
|
CA596190 rs371212478 |
230 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA17995825 rs374671109 |
231 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA338428604 rs1405796922 |
232 | F>I | No |
ClinGen gnomAD |
|
|
rs1206104810 CA338428616 |
233 | R>Q | No |
ClinGen TOPMed |
|
|
rs1570530081 COSM167369 CA338428625 |
235 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA338428652 rs1225983813 |
237 | D>N | No |
ClinGen TOPMed |
|
|
CA596218 rs771781698 |
238 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs773027731 CA338428662 |
238 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596219 rs773027731 |
238 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596220 rs759941293 |
241 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338428685 rs759941293 |
241 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338428689 rs1246083817 |
242 | V>L | No |
ClinGen gnomAD |
|
|
CA338428711 rs1267270057 |
245 | G>V | No |
ClinGen TOPMed |
|
|
CA596221 rs765674820 |
246 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 247 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA596223 rs763572231 |
248 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA596226 rs757340423 |
252 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750671843 CA596228 |
255 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779943946 CA596230 |
256 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778732719 CA596233 |
257 | P>L | No |
ClinGen ExAC |
|
|
rs754881055 CA596232 |
257 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA338428779 rs201010581 |
258 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201010581 CA596236 |
258 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369056419 CA596238 |
260 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1031035354 CA17996738 |
261 | T>N | No |
ClinGen TOPMed |
|
|
rs775989333 CA596239 |
262 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763230244 CA596240 |
263 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774858202 CA596242 |
264 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17996759 rs1022444533 |
264 | S>R | No |
ClinGen TOPMed |
|
|
CA338428821 rs1158510868 |
265 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA17996767 rs901852489 |
268 | G>D | No |
ClinGen Ensembl |
|
|
COSM1333143 CA596243 rs761839015 |
269 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA17996791 rs1026607299 |
272 | W>R | No |
ClinGen TOPMed |
|
|
rs750617374 CA596246 |
274 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs886685822 CA17996798 |
275 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA596248 rs761028473 CA596247 |
275 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA596249 rs753615019 |
276 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA338429317 rs754755019 |
277 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17996813 rs778956530 |
277 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778956530 CA596251 |
277 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754755019 CA596250 |
277 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338429502 rs1570532218 |
284 | S>P | No |
ClinGen Ensembl |
|
|
CA338429516 rs1430726287 |
285 | M>T | No |
ClinGen TOPMed |
|
|
rs1196899678 CA338429536 |
286 | S>F | No |
ClinGen gnomAD |
|
|
rs1171560047 CA338429553 |
288 | T>A | No |
ClinGen TOPMed |
|
|
rs780854681 CA596276 |
291 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368875103 CA596277 |
295 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596278 rs768983318 |
295 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1376907702 CA338429684 |
298 | I>L | No |
ClinGen gnomAD |
|
|
rs1397665748 CA338429706 |
299 | Q>R | No |
ClinGen gnomAD |
|
|
CA596279 rs779303268 |
300 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs748520221 CA596280 |
301 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772513160 CA596281 |
302 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566826626 CA596284 |
307 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA596283 rs760769936 |
307 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759735117 CA596286 |
311 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs144929575 CA596288 |
316 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264470659 CA338429969 |
318 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 319 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183063131 CA338430047 |
319 | C>F | No |
ClinGen TOPMed |
|
|
CA596307 rs775875902 |
321 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1383663416 CA338430095 |
323 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 324 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1446648587 | 326 | C>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164801734 CA338430173 |
327 | H>Q | No |
ClinGen TOPMed |
|
|
rs774319486 CA596310 |
332 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17997775 rs917506820 |
335 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs917506820 CA17997772 |
335 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1356194298 CA338430290 |
336 | F>V | No |
ClinGen TOPMed |
|
|
rs375121549 CA596312 |
338 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755646612 CA596314 |
339 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596315 rs765978912 |
340 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs753531613 CA596316 |
341 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs758742332 CA596317 |
343 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA338430387 rs1570532632 |
343 | I>M | No |
ClinGen Ensembl |
|
|
rs778058594 CA596318 |
343 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570532641 CA338430408 |
345 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 345 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904298158 CA17997811 |
345 | G>C | No |
ClinGen Ensembl |
|
|
CA338430415 rs1339079212 |
346 | L>F | No |
ClinGen TOPMed |
|
|
rs1490719102 CA338430432 |
347 | L>R | No |
ClinGen gnomAD |
|
|
CA596320 rs757638536 |
349 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338430457 rs1395281630 |
349 | A>V | No |
ClinGen gnomAD |
|
|
CA338430485 rs1160275379 |
351 | F>C | No |
ClinGen gnomAD |
|
|
CA338430476 rs1471305744 |
351 | F>I | No |
ClinGen gnomAD |
|
|
CA338430478 rs1471305744 |
351 | F>L | No |
ClinGen gnomAD |
|
|
COSM894604 CA596322 rs745893586 |
353 | C>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745893586 CA17997813 |
353 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338430514 rs745893586 |
353 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338430542 rs1217045014 COSM423592 |
355 | N>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1404616873 CA338430553 |
356 | K>R | No |
ClinGen gnomAD |
|
|
CA338430562 rs1446702938 |
357 | R>K | No |
ClinGen TOPMed |
|
|
rs1321258058 CA338430570 |
358 | L>F | No |
ClinGen gnomAD |
|
|
rs1363955375 CA338430582 |
359 | A>T | No |
ClinGen gnomAD |
|
|
rs1406946758 CA338430636 |
362 | R>C | No |
ClinGen gnomAD |
|
|
CA596323 rs770022946 COSM1320093 |
362 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs192222703 CA596324 |
364 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165935804 CA338430684 |
366 | V>M | No |
ClinGen TOPMed |
|
|
CA338430717 rs1228115452 |
367 | H>R | No |
ClinGen gnomAD |
|
|
rs771858530 CA596329 |
368 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753476419 CA596333 |
373 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1294807 rs371436093 CA596332 |
373 | V>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1216440112 CA338430999 |
377 | E>K | No |
ClinGen gnomAD |
|
|
CA338431046 rs1201219492 |
380 | L>V | No |
ClinGen gnomAD |
|
|
rs1461662581 CA338431064 |
381 | V>G | No |
ClinGen gnomAD |
|
|
CA338431056 rs1265003855 |
381 | V>M | No |
ClinGen gnomAD |
|
|
CA596370 rs746813295 |
383 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596374 rs201349073 |
387 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762721989 CA596375 |
388 | V>M | No |
ClinGen ExAC |
|
|
rs767986284 CA596376 |
389 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs773641061 CA596378 |
390 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773641061 CA596377 |
390 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 391 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374620241 CA596379 |
391 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338431202 rs374620241 |
391 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338431217 rs368324581 |
392 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596380 rs368324581 |
392 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596381 rs538154661 |
392 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA596382 rs765418358 |
393 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556777026 CA18000095 |
393 | S>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs200339900 CA18000110 |
394 | M>T | No |
ClinGen 1000Genomes |
|
|
CA596384 rs758581911 |
395 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA596385 rs574128207 |
397 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs574128207 CA18000126 |
397 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1324216447 CA338431933 |
398 | E>K | No |
ClinGen gnomAD |
|
|
CA338431956 rs1437736087 |
399 | C>R | No |
ClinGen TOPMed |
|
|
CA596388 rs781076012 |
400 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183163733 CA338432051 |
404 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA596390 rs371954004 |
405 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA338432061 rs1262074401 |
405 | S>P | No |
ClinGen gnomAD |
|
|
rs1197387145 CA338432080 |
406 | S>G | No |
ClinGen gnomAD |
|
|
rs368079283 CA596392 |
409 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338432140 rs1159144223 |
409 | G>V | No |
ClinGen gnomAD |
|
|
CA596393 rs371787491 |
410 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338432154 rs1187823760 |
410 | N>Y | No |
ClinGen gnomAD |
|
|
rs1455739407 CA338432239 |
413 | F>L | No |
ClinGen gnomAD |
|
|
CA338432296 rs1159443580 |
416 | Q>H | No |
ClinGen gnomAD |
|
|
rs759831567 CA596420 |
420 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA338433770 rs1249640034 |
421 | V>M | No |
ClinGen gnomAD |
|
|
CA18002412 rs77652404 |
424 | S>G | No |
ClinGen Ensembl |
|
|
CA338433864 rs1209832056 |
424 | S>N | No |
ClinGen TOPMed |
|
|
rs1178326937 CA338433883 |
425 | I>V | No |
ClinGen gnomAD |
|
|
rs1243055932 CA338434004 |
427 | T>I | No |
ClinGen gnomAD |
|
| rs778208569 | 430 | C>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18002415 rs910730139 |
430 | C>S | No |
ClinGen TOPMed |
|
|
CA596424 rs200821920 |
432 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA596425 rs764206454 |
433 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1223269863 CA338434162 |
434 | T>A | No |
ClinGen TOPMed |
|
|
rs1251393016 CA338434236 |
435 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 436 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471762566 CA338434303 |
437 | D>G | No |
ClinGen TOPMed |
|
|
rs751766570 CA596426 |
438 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA18002424 rs942415587 |
439 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA596427 rs762089073 |
439 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs540491119 CA596428 |
441 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs1355812597 CA338434499 |
443 | F>L | No |
ClinGen gnomAD |
|
|
CA18002431 rs543966577 |
444 | N>S | No |
ClinGen Ensembl |
|
|
CA596429 rs750170974 |
445 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs377246490 CA596430 |
446 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200128570 CA596431 |
450 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA596432 rs753878088 |
451 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA338434730 rs1293664665 |
452 | Q>* | No |
ClinGen gnomAD |
|
|
CA596434 rs374183427 |
453 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA596435 rs747668879 |
453 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA338434853 rs777313708 |
455 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771793817 CA596436 |
455 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746205692 CA596438 |
456 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18002458 rs180781891 |
457 | D>G | No |
ClinGen TOPMed |
|
|
rs180781891 CA338434896 |
457 | D>V | No |
ClinGen TOPMed |
|
|
CA596463 rs773472768 |
459 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773472768 CA596464 |
459 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766632894 CA596465 |
460 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA338435193 rs1570538265 |
461 | S>N | No |
ClinGen Ensembl |
|
|
CA338435213 rs1286727952 |
462 | P>A | No |
ClinGen gnomAD |
|
|
rs149492290 CA596467 |
463 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765227030 CA596468 |
464 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1490714342 CA338435274 |
466 | A>P | No |
ClinGen gnomAD |
|
|
CA338435285 rs752723999 |
467 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596469 rs752723999 |
467 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338435297 rs1232247075 |
468 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA338435307 rs757904618 |
469 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596470 rs757904618 |
469 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200899004 CA596471 |
470 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200899004 CA596472 |
470 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18002642 rs1050902161 |
471 | L>P | No |
ClinGen Ensembl |
|
|
CA596475 rs749601719 |
475 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1335714769 CA338435429 |
478 | W>* | No |
ClinGen gnomAD |
|
|
rs779358393 CA596479 |
480 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747221082 CA596477 |
480 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1004976008 CA18002659 |
481 | G>S | No |
ClinGen TOPMed |
|
|
CA338435477 rs1430887332 |
481 | G>V | No |
ClinGen TOPMed |
|
|
CA596480 rs772190226 |
482 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs773103576 CA596481 |
483 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs747128287 CA596482 |
484 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA596483 rs771010245 |
490 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777024310 CA596484 |
491 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA338435559 rs1435534450 |
491 | P>L | No |
ClinGen gnomAD |
|
|
CA338435584 rs1570538427 |
496 | G>R | No |
ClinGen Ensembl |
|
|
CA338435592 rs1443846868 |
497 | A>S | No |
ClinGen gnomAD |
|
|
rs1181449387 CA338435600 |
498 | A>G | No |
ClinGen gnomAD |
|
|
CA596486 rs148630210 |
499 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338435605 rs1289960326 |
499 | F>S | No |
ClinGen TOPMed |
|
|
CA596487 rs147341529 |
501 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1163943370 CA338435616 |
501 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA596488 rs147341529 |
501 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338435622 rs1446714419 |
502 | L>S | No |
ClinGen gnomAD |
|
|
rs764096484 CA596489 |
504 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs369720825 CA596490 |
505 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA596491 rs761404563 |
509 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs372586489 CA596538 |
510 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773042242 CA338435690 |
511 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773042242 CA596539 |
511 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18002843 rs145295027 |
512 | G>E | No |
ClinGen ESP TOPMed |
|
|
CA338435697 rs1427375048 |
512 | G>R | No |
ClinGen TOPMed |
|
|
rs774130337 CA596541 |
514 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774130337 CA596540 |
514 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930724386 CA18002847 |
517 | Y>C | No |
ClinGen TOPMed |
|
|
CA596542 rs772004824 |
517 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA596543 rs149710478 |
518 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA596545 rs765980757 |
519 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA596546 rs776387131 |
521 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1282279571 CA338435755 |
522 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 522 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338435769 rs1382356403 |
524 | I>T | No |
ClinGen gnomAD |
|
|
CA596547 rs375760488 |
525 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338435784 rs1298401816 |
527 | A>T | No |
ClinGen gnomAD |
|
|
CA338435789 rs1344378491 |
527 | A>V | No |
ClinGen gnomAD |
|
|
CA338435797 rs1350403864 |
529 | F>L | No |
ClinGen TOPMed |
|
|
CA596550 rs140748453 |
532 | G>R | No |
ClinGen ESP ExAC |
|
|
CA338435827 rs1570539041 |
533 | V>G | No |
ClinGen Ensembl |
|
|
rs766387120 CA18002879 |
535 | R>C | No |
ClinGen gnomAD |
|
|
rs556741884 CA596552 |
535 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA596553 rs556741884 |
535 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 538 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749571420 CA596555 |
539 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1221788114 CA338435868 |
540 | L>F | No |
ClinGen TOPMed |
|
|
CA596557 rs578077772 |
541 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338435877 rs1378054150 |
542 | V>I | No |
ClinGen TOPMed |
|
|
rs746492195 CA596562 |
543 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA338435911 rs1469389260 |
547 | S>A | No |
ClinGen TOPMed |
|
|
CA596564 rs539145591 |
551 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1190367947 CA338435967 |
555 | L>P | No |
ClinGen gnomAD |
|
|
CA596565 rs759301700 |
556 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA596566 rs764800359 |
557 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596567 rs774798057 |
558 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA18002932 rs201373379 |
558 | M>V | No |
ClinGen gnomAD |
|
|
CA338436025 rs1440281106 |
563 | V>M | No |
ClinGen TOPMed |
|
|
CA18002969 rs867791798 |
564 | A>T | No |
ClinGen Ensembl |
|
|
CA596585 rs201930853 |
569 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA18002980 rs937826223 |
569 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1226780108 CA338436071 |
570 | F>I | No |
ClinGen gnomAD |
|
|
CA596586 rs762237239 |
571 | F>L | No |
ClinGen ExAC |
|
|
rs772610040 CA596587 |
572 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596588 rs773839446 |
573 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA596589 rs761308436 |
573 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA596591 rs753909356 |
577 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338436131 rs1414057715 |
578 | I>T | No |
ClinGen gnomAD |
|
|
CA596592 rs759569800 |
579 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868361627 CA18003006 |
579 | H>Y | No |
ClinGen Ensembl |
|
|
CA596593 RCV000948531 rs150830522 |
580 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758176919 CA596595 |
583 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs150232531 CA338436158 |
583 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150232531 COSM1201291 CA596596 |
583 | R>Q | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781013282 CA596599 |
585 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596600 rs576300278 |
586 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576300278 CA338436189 |
586 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749003292 CA596603 |
590 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1445954071 CA338436229 |
590 | W>R | No |
ClinGen TOPMed |
|
|
rs1320664581 CA338436244 |
591 | E>K | No |
ClinGen gnomAD |
|
|
CA596604 rs772557114 |
592 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773643067 CA596605 |
593 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA338436284 rs1371973121 |
594 | V>A | No |
ClinGen TOPMed |
|
|
CA596606 rs760972839 |
594 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338436308 rs1184288121 |
596 | M>I | No |
ClinGen gnomAD |
|
|
CA338436305 rs1485312217 |
596 | M>R | No |
ClinGen gnomAD |
|
|
CA338436313 rs1264750249 |
597 | D>G | No |
ClinGen gnomAD |
|
|
CA338436318 rs1169273765 |
598 | K>E | No |
ClinGen TOPMed |
|
|
COSM894608 CA18003621 rs147364570 |
600 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
CA596629 rs775493905 |
603 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412662989 CA338437618 |
604 | I>M | No |
ClinGen TOPMed |
|
|
rs1557433776 CA338437671 |
606 | E>V | No |
ClinGen Ensembl |
|
|
CA338437693 rs1221128128 |
607 | P>S | No |
ClinGen gnomAD |
|
|
rs763040976 CA596630 |
608 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA18003626 rs994241199 |
608 | N>S | No |
ClinGen Ensembl |
|
|
rs1359230122 CA338437856 |
613 | Y>C | No |
ClinGen TOPMed |
|
|
CA338437869 rs1399027417 |
614 | P>A | No |
ClinGen TOPMed |
|
|
CA338437883 rs1468410072 |
614 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1399027417 CA338437872 |
614 | P>S | No |
ClinGen TOPMed |
|
|
CA338437920 rs1570540853 |
616 | T>P | No |
ClinGen Ensembl |
|
|
rs750369359 CA596635 |
617 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1047108702 CA18003638 |
617 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1047108702 CA338437959 |
617 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338437999 rs1407142887 |
620 | S>T | No |
ClinGen gnomAD |
|
|
rs766430252 CA596637 |
624 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1667152 rs7412854 CA18003644 |
625 | L>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA338438120 rs1570540932 |
626 | R>G | No |
ClinGen Ensembl |
|
|
rs754576110 CA596639 |
626 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778606640 CA596640 |
627 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747812996 CA596641 |
628 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA18003655 rs894529319 |
629 | V>G | No |
ClinGen TOPMed |
|
|
CA338438258 rs1175127283 |
631 | H>R | No |
ClinGen gnomAD |
|
|
rs1272214705 COSM180922 CA338438366 |
634 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA338438354 rs1228325517 |
634 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA18003663 rs969573072 |
635 | V>L | No |
ClinGen gnomAD |
|
|
rs1288375009 CA338438567 |
639 | N>K | No |
ClinGen TOPMed |
|
|
CA596645 rs770239210 |
640 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596647 rs749332456 |
640 | R>H | No |
ClinGen ExAC |
|
|
rs770239210 CA596646 |
640 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759368435 CA596649 |
641 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163853318 CA338438645 |
642 | N>T | No |
ClinGen gnomAD |
|
|
CA338438664 rs1464487665 |
643 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM3360254 CA338438668 rs1464487665 |
643 | E>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA338438733 rs1401547470 |
647 | M>V | No |
ClinGen gnomAD |
|
|
rs778296231 CA596651 |
648 | K>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400901651 CA338438819 |
651 | Q>R | No |
ClinGen TOPMed |
|
|
CA596653 COSM3771411 rs151185565 |
654 | S>N | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1570541081 CA338438935 |
655 | N>T | No |
ClinGen Ensembl |
|
|
rs753875981 CA596656 |
658 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA596686 rs772245001 |
662 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1570542081 CA338439311 |
666 | T>P | No |
ClinGen Ensembl |
|
|
CA338439335 rs1286875833 |
667 | R>Q | No |
ClinGen gnomAD |
|
|
CA338439333 rs1218924047 |
667 | R>W | No |
ClinGen gnomAD |
|
|
CA596689 rs145408535 |
670 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338439404 rs1392963575 |
671 | Q>* | No |
ClinGen TOPMed |
|
|
CA596690 rs776513600 |
672 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs143362803 CA596692 COSM1320092 |
672 | R>H | ovary Variant assessed as Somatic; 5.06e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA596691 rs143362803 |
672 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143362803 CA338439414 |
672 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775535430 CA596693 |
673 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596694 rs762344951 |
673 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596695 rs762344951 |
673 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374721794 CA596698 |
674 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761387681 CA596697 |
674 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338439455 rs1158807520 |
675 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA596699 rs754151293 |
678 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA338439509 rs754151293 |
678 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1288842100 CA338439601 |
681 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1215421996 CA338439660 |
684 | S>N | No |
ClinGen TOPMed |
|
|
rs867019079 CA338439665 |
685 | E>K | No |
ClinGen gnomAD |
|
|
rs867019079 CA18004089 |
685 | E>Q | No |
ClinGen gnomAD |
|
|
rs747102721 CA596705 |
687 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470288744 CA338439700 |
687 | R>W | No |
ClinGen TOPMed |
|
|
CA596708 rs781599578 |
689 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596707 rs757508696 |
689 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA596709 rs745622403 |
692 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1166203946 CA338439798 |
692 | E>K | No |
ClinGen TOPMed |
|
|
rs1322806801 CA338439825 |
693 | H>R | No |
ClinGen gnomAD |
|
|
CA596711 rs568416833 |
695 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768477863 CA596713 |
699 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773792256 CA596714 |
700 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338439970 rs773792256 |
700 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043918186 CA18004104 |
701 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA338440002 rs1557434748 |
702 | K>R | No |
ClinGen Ensembl |
|
|
rs1369014610 CA338440031 |
703 | E>G | No |
ClinGen gnomAD |
|
|
rs767114337 CA596716 |
704 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 707 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA596717 rs377337946 |
707 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150177184 CA596718 |
710 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338440204 rs150177184 |
710 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338440260 rs1570542300 |
711 | E>D | No |
ClinGen Ensembl |
|
|
CA338440471 rs1296368387 |
714 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA18004261 rs1002930995 |
714 | Y>N | No |
ClinGen TOPMed |
|
|
rs1035323278 CA18004272 |
715 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA596748 rs778798005 |
716 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1570542664 CA338440524 |
717 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 718 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338440582 rs1293441849 |
719 | N>S | No |
ClinGen gnomAD |
|
|
CA338440628 rs1221227869 |
722 | P>S | No |
ClinGen gnomAD |
|
|
CA18004276 rs955924879 |
723 | D>V | No |
ClinGen TOPMed |
|
|
CA338440671 rs1352463915 |
724 | Q>* | No |
ClinGen gnomAD |
|
|
rs1331121687 CA338440700 |
725 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 730 | W>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18004277 rs371058274 |
732 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs925525662 CA18004281 |
735 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA338440910 COSM894611 rs1440077965 |
735 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1372468629 CA338440953 |
737 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1488320162 CA338440956 |
737 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs746527484 CA596752 |
739 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1314740029 CA338441021 |
740 | T>I | No |
ClinGen TOPMed |
|
|
rs763391079 CA596755 |
743 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261671321 CA338441134 |
744 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 744 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933086400 CA18004292 |
747 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200061168 COSM894612 CA596756 |
748 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs767919636 CA596759 |
751 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs750466891 CA596760 |
752 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760699359 CA596761 |
752 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA338442225 rs1376587386 |
755 | V>A | No |
ClinGen gnomAD |
|
|
CA338442231 rs1444187729 |
756 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1444187729 CA338442229 |
756 | R>G | No |
ClinGen gnomAD |
|
|
CA596763 rs367545491 |
756 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561944828 CA596764 |
761 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA596766 rs778613965 |
763 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1248749851 CA338442375 |
764 | Q>* | No |
ClinGen TOPMed |
|
|
CA596767 rs752502680 COSM894613 |
765 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs531440933 | 766 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748492388 CA596795 |
766 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs201096522 CA338442580 |
767 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA18004692 rs201096522 |
767 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA596797 rs570949298 |
768 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1386931491 CA338442619 |
769 | Q>H | No |
ClinGen TOPMed |
|
|
rs771484760 CA596799 |
770 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3849225 CA596801 rs375927564 |
771 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA338442643 rs375927564 |
771 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338442645 rs1252391264 |
771 | R>H | No |
ClinGen Ensembl |
|
|
rs1570543813 CA338442669 |
773 | S>P | No |
ClinGen Ensembl |
|
|
CA338442689 rs1334729047 |
774 | Y>C | No |
ClinGen TOPMed |
|
|
CA596803 rs775741733 |
774 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs763864540 CA596805 |
776 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA596806 rs751371700 |
777 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA596808 rs149322151 |
779 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
rs749909084 CA596809 |
781 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1426759652 CA338442834 |
782 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA596810 rs755723649 |
782 | P>L | Variant assessed as Somatic; 4.647e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA596812 rs749005644 |
783 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs551681929 CA596811 |
783 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1570543892 CA338442864 |
784 | Y>S | No |
ClinGen Ensembl |
|
|
CA596815 rs747422495 CA18004729 |
786 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777943239 COSM1333148 CA596814 |
786 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1308537309 CA338442905 |
787 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA338442902 rs1308537309 |
787 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA18004730 rs776448641 |
789 | D>N | No |
ClinGen Ensembl |
|
|
CA338442973 rs1350266316 |
790 | L>V | No |
ClinGen gnomAD |
|
|
rs777164079 CA596817 |
793 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18004732 rs777164079 |
793 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322364421 CA338443040 |
794 | L>R | No |
ClinGen TOPMed |
|
|
CA338443100 rs1226998141 COSM180924 |
797 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs377577098 CA18004737 |
798 | R>C | No |
ClinGen ESP |
|
|
rs769924243 COSM1333149 CA596819 |
798 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769924243 CA596820 |
798 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763015841 CA596821 |
799 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596823 rs370182454 |
801 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759127567 CA596848 |
802 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338443332 rs1377564037 |
803 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752455262 CA596850 |
804 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA596851 rs757618672 |
804 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774430706 CA18004830 |
805 | P>L | No |
ClinGen Ensembl |
|
|
CA596852 rs574102759 COSM331086 |
805 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 806 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780639912 CA596855 |
807 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs756560527 CA338443429 |
807 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756560527 CA596854 |
807 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178652209 CA338443464 |
808 | N>K | No |
ClinGen TOPMed |
|
|
CA338443467 rs749293199 |
809 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18004843 rs1038441546 |
809 | P>R | No |
ClinGen TOPMed |
|
|
CA596856 rs749293199 |
809 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596857 rs749293199 |
809 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905288607 CA18004846 |
810 | S>A | No |
ClinGen TOPMed |
|
|
CA338443504 rs1384366917 |
811 | P>L | No |
ClinGen gnomAD |
|
|
CA596861 rs146822661 |
814 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338443560 rs890497348 |
815 | S>* | No |
ClinGen TOPMed |
|
|
rs890497348 CA18004856 |
815 | S>L | No |
ClinGen TOPMed |
|
|
CA596863 rs770962264 |
816 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596864 rs199917825 |
818 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA596866 rs764870626 |
820 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899434380 CA18004868 |
822 | Q>R | No |
ClinGen gnomAD |
|
|
rs1218451266 CA338443760 |
828 | R>T | No |
ClinGen gnomAD |
|
|
CA596869 rs763754640 |
829 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1482024682 CA338443815 |
832 | L>M | No |
ClinGen gnomAD |
|
|
rs148098036 CA596870 |
833 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759665554 CA596871 |
833 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759665554 CA338443832 |
833 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA338443846 rs1476836987 |
834 | H>L | No |
ClinGen TOPMed |
|
|
CA596872 rs766771379 |
835 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA338443863 rs1421407967 |
836 | P>A | No |
ClinGen gnomAD |
|
|
CA338443865 rs1421407967 |
836 | P>S | No |
ClinGen gnomAD |
|
|
CA18004880 rs968167686 |
837 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1157522156 CA338443885 |
838 | V>M | No |
ClinGen TOPMed |
|
|
CA596877 rs375970486 |
840 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA596876 rs375970486 |
840 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338446936 rs1455302204 |
844 | I>V | No |
ClinGen gnomAD |
|
|
rs544177954 CA596952 |
845 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1324202281 CA338446987 |
846 | G>R | No |
ClinGen gnomAD |
|
|
rs1557437576 CA338447059 |
849 | T>I | No |
ClinGen Ensembl |
|
|
CA338447067 rs1306420004 |
850 | R>P | No |
ClinGen gnomAD |
|
|
CA338447074 rs1334002270 |
851 | H>R | No |
ClinGen gnomAD |
|
|
rs374466254 CA596953 |
852 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338447106 rs1280646936 CA338447107 |
852 | N>K | No |
ClinGen gnomAD |
|
|
rs1334677035 CA338447147 |
855 | Y>C | No |
ClinGen gnomAD |
|
|
rs754816242 CA596956 |
859 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs778800048 CA18005529 |
860 | A>S | No |
ClinGen TOPMed |
|
|
rs750419208 CA18005530 |
860 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1333152 rs765147699 CA596957 |
861 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs376481714 CA18005531 |
861 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1401536313 CA338447232 |
863 | R>G | No |
ClinGen TOPMed |
|
|
CA338447235 rs1394334280 |
863 | R>K | No |
ClinGen TOPMed |
|
|
rs371104195 CA596959 |
863 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338447280 rs1394891526 |
866 | Y>* | No |
ClinGen gnomAD |
|
|
rs1557437676 CA338447271 |
866 | Y>H | No |
ClinGen Ensembl |
|
|
rs954297112 CA18005538 |
868 | T>A | No |
ClinGen TOPMed |
|
|
CA596961 rs746555061 |
869 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA338447307 rs1297761383 |
869 | I>V | No |
ClinGen gnomAD |
1 associated diseases with P51797
[MIM: 619173]: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA)
An autosomal dominant, progressive, neurodegenerative disorder characterized by severe global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, impaired motor development, respiratory insufficiency, and feeding difficulties. Most patients have visual defects, including cortical visual blindness, nystagmus, and esotropia. Brain imaging shows abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Disease onset is in infancy or early childhood. {ECO:0000269|PubMed:33217309}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant, progressive, neurodegenerative disorder characterized by severe global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, impaired motor development, respiratory insufficiency, and feeding difficulties. Most patients have visual defects, including cortical visual blindness, nystagmus, and esotropia. Brain imaging shows abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Disease onset is in infancy or early childhood. {ECO:0000269|PubMed:33217309}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for P51797
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CBS domain | 601 - 657 | IPR000644-1 |
| domain | CBS domain | 806 - 868 | IPR000644-2 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endosome membrane | The lipid bilayer surrounding an endosome. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| antiporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| chloride transmembrane transporter activity | Enables the transfer of chloride ions from one side of a membrane to the other. |
| voltage-gated chloride channel activity | Enables the transmembrane transfer of a chloride ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cell volume homeostasis | Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| response to mechanical stimulus | 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 mechanical stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51790 | CLCN3 | H(+)/Cl(-) exchange transporter 3 | Homo sapiens (Human) | PR |
| P51798 | CLCN7 | H(+)/Cl(-) exchange transporter 7 | Homo sapiens (Human) | PR |
| O70496 | Clcn7 | H(+)/Cl(-) exchange transporter 7 | Mus musculus (Mouse) | PR |
| Q61418 | Clcn4 | H(+)/Cl(-) exchange transporter 4 | Mus musculus (Mouse) | PR |
| O35454 | Clcn6 | H(+)/Cl(-) exchange transporter 6 | Mus musculus (Mouse) | PR |
| P51799 | Clcn7 | H(+)/Cl(-) exchange transporter 7 | Rattus norvegicus (Rat) | PR |
| P60300 | CLC-G | Putative chloride channel-like protein CLC-g | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGCRGSLCC | CCRWCCCCGE | RETRTPEELT | ILGETQEEED | EILPRKDYES | LDYDRCINDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YLEVLETMDN | KKGRRYEAVK | WMVVFAIGVC | TGLVGLFVDF | FVRLFTQLKF | GVVQTSVEEC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SQKGCLALSL | LELLGFNLTF | VFLASLLVLI | EPVAAGSGIP | EVKCYLNGVK | VPGIVRLRTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LCKVLGVLFS | VAGGLFVEKE | GPMIHSGSVV | GAGLPQFQSI | SLRKIQFNFP | YFRSDRDKRD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FVSAGAAAGV | AAAFGAPIGG | TLFSLEEGSS | FWNQGLTWKV | LFCSMSATFT | LNFFRSGIQF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSWGSFQLPG | LLNFGEFKCS | DSDKKCHLWT | AMDLGFFVVM | GVIGGLLGAT | FNCLNKRLAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YRMRNVHPKP | KLVRVLESLL | VSLVTTVVVF | VASMVLGECR | QMSSSSQIGN | DSFQLQVTED |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VNSSIKTFFC | PNDTYNDMAT | LFFNPQESAI | LQLFHQDGTF | SPVTLALFFV | LYFLLACWTY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GISVPSGLFV | PSLLCGAAFG | RLVANVLKSY | IGLGHIYSGT | FALIGAAAFL | GGVVRMTISL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TVILIESTNE | ITYGLPIMVT | LMVAKWTGDF | FNKGIYDIHV | GLRGVPLLEW | ETEVEMDKLR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ASDIMEPNLT | YVYPHTRIQS | LVSILRTTVH | HAFPVVTENR | GNEKEFMKGN | QLISNNIKFK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KSSILTRAGE | QRKRSQSMKS | YPSSELRNMC | DEHIASEEPA | EKEDLLQQML | ERRYTPYPNL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YPDQSPSEDW | TMEERFRPLT | FHGLILRSQL | VTLLVRGVCY | SESQSSASQP | RLSYAEMAED |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YPRYPDIHDL | DLTLLNPRMI | VDVTPYMNPS | PFTVSPNTHV | SQVFNLFRTM | GLRHLPVVNA |
| 850 | 860 | ||||
| VGEIVGIITR | HNLTYEFLQA | RLRQHYQTI |