Q9NQ90
PR
Gene name |
ANO2 (C12orf3, TMEM16B) |
Protein name |
Anoctamin-2 |
Names |
Transmembrane protein 16B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57101 |
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
1 structures for Q9NQ90
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NQ90-F1 | Predicted | AlphaFoldDB |
906 variants for Q9NQ90
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA383485813 rs1396928553 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA383485809 rs1463974056 |
3 | T>A | No |
ClinGen gnomAD |
|
|
CA383485787 rs752541675 CA6401281 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914025517 CA383485770 |
6 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs914025517 CA232253956 |
6 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs914025517 CA383485772 |
6 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA232253962 rs949520711 |
6 | P>S | No |
ClinGen TOPMed |
|
|
rs949520711 CA383485778 |
6 | P>T | No |
ClinGen TOPMed |
|
|
rs1459142193 CA383485764 |
7 | R>C | No |
ClinGen TOPMed |
|
|
CA383485761 rs1477417835 |
7 | R>H | No |
ClinGen gnomAD |
|
|
CA232232656 rs901512027 |
8 | D>A | No |
ClinGen Ensembl |
|
|
CA383483739 rs1361329271 |
9 | I>M | No |
ClinGen gnomAD |
|
|
CA6401265 rs570793510 |
9 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232232653 rs570793510 |
9 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401264 rs188881637 |
10 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6401263 rs748119229 |
11 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383483721 rs1374278260 |
13 | P>A | No |
ClinGen TOPMed |
|
|
CA6401262 rs374858158 |
13 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200903880 CA6401260 |
14 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383483708 rs1307409354 |
15 | S>F | No |
ClinGen TOPMed |
|
|
CA6401259 rs766546668 |
17 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6401258 rs200582033 |
17 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383483701 rs766546668 |
17 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200511572 CA383483696 |
18 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200511572 CA383483695 |
18 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM226702 rs200511572 CA6401254 |
18 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201785753 CA6401255 |
18 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232232634 rs538545402 |
19 | L>P | No |
ClinGen 1000Genomes |
|
|
CA383483689 rs1591796708 |
20 | S>G | No |
ClinGen Ensembl |
|
|
CA383483681 rs1261212841 |
21 | P>A | No |
ClinGen gnomAD |
|
|
CA6401250 rs774025431 |
24 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs761014244 CA6401251 |
24 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA383483655 rs1292175997 |
25 | S>Y | No |
ClinGen gnomAD |
|
|
rs770539877 CA6401249 |
27 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770539877 CA383483641 |
27 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA383483637 rs1271861422 |
28 | G>D | No |
ClinGen gnomAD |
|
|
rs1339259018 CA383483627 |
29 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs748993446 CA383483623 |
30 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs748993446 CA6401247 |
30 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1565782597 CA383483617 |
31 | P>R | No |
ClinGen Ensembl |
|
|
rs1170821251 CA383483619 |
31 | P>S | No |
ClinGen TOPMed |
|
|
rs1170821251 CA383483621 |
31 | P>T | No |
ClinGen TOPMed |
|
|
CA6401246 rs569645709 |
33 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs569645709 CA383483606 |
33 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs992265579 CA232232622 |
35 | Q>E | No |
ClinGen Ensembl |
|
|
rs1403968823 CA383483588 COSM1236743 |
35 | Q>H | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1422191798 CA383483585 |
36 | Q>* | No |
ClinGen gnomAD |
|
|
rs199820488 CA6401245 |
36 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs529860645 CA6401243 |
37 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6401242 rs754768681 |
37 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA232232614 rs958589471 |
38 | L>F | No |
ClinGen TOPMed |
|
|
rs746825985 CA6401241 |
39 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779917319 COSM942302 CA6401240 |
39 | K>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758509410 CA383483556 CA6401239 |
40 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1383205917 CA383483552 |
41 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1035922122 CA232232606 |
41 | P>T | No |
ClinGen TOPMed |
|
|
rs750677510 CA6401238 |
42 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs978098211 CA383483545 |
43 | P>A | No |
ClinGen gnomAD |
|
|
CA6401237 rs561008294 |
43 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232232603 rs978098211 |
43 | P>S | No |
ClinGen gnomAD |
|
|
CA232232594 rs764740447 |
44 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764740447 CA6401234 |
44 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368965126 CA6401235 |
44 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232232592 rs760891155 |
45 | A>S | No |
ClinGen Ensembl |
|
|
CA383483537 rs1433942724 |
45 | A>V | No |
ClinGen gnomAD |
|
|
CA383483523 rs1330033742 |
47 | G>V | No |
ClinGen gnomAD |
|
|
CA383483519 rs1317673554 |
48 | L>P | No |
ClinGen TOPMed |
|
|
CA232232591 rs1022528189 |
49 | Q>* | No |
ClinGen Ensembl |
|
|
CA6401232 rs752955562 |
50 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401229 rs772868396 |
51 | G>D | No |
ClinGen ExAC |
|
|
CA6401230 rs762449480 |
51 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383483497 rs1424629583 |
52 | S>C | No |
ClinGen gnomAD |
|
|
CA383483496 rs1424629583 |
52 | S>F | No |
ClinGen gnomAD |
|
|
CA6401228 rs750666306 |
53 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761350606 CA6401227 |
54 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA6401226 rs527242069 |
57 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383483456 rs1457227570 |
58 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6401224 rs746994965 |
59 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6401225 rs371280202 |
59 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383483445 rs779647848 |
60 | C>* | No |
ClinGen ExAC TOPMed |
|
|
rs1277376385 CA383483446 |
60 | C>F | No |
ClinGen gnomAD |
|
|
rs779647848 CA6401223 |
60 | C>W | No |
ClinGen ExAC TOPMed |
|
|
CA232232579 rs943604098 |
61 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA232232576 rs901624789 |
62 | G>E | No |
ClinGen gnomAD |
|
|
rs771914006 CA6401222 |
62 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA232232573 rs910754262 |
63 | E>Q | No |
ClinGen TOPMed |
|
|
CA383483423 rs1446521122 |
64 | S>I | No |
ClinGen gnomAD |
|
|
rs1375240578 CA383483415 |
65 | T>I | No |
ClinGen gnomAD |
|
|
rs1591796363 CA383483420 |
65 | T>P | No |
ClinGen Ensembl |
|
|
CA6401221 rs746073420 |
66 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401220 rs368125515 |
66 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA383483413 rs746073420 |
66 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383483403 rs1402627154 |
67 | S>R | No |
ClinGen gnomAD |
|
|
CA383483394 rs754021969 |
69 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401218 rs754021969 |
69 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777932149 CA6401217 |
69 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781757788 CA6401195 |
70 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs751870395 CA6401193 |
72 | N>S | No |
ClinGen ExAC TOPMed |
|
|
CA6401191 rs766756811 |
73 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6401190 rs756831979 |
73 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs753542425 CA6401189 |
74 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA6401187 rs760298455 |
75 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760298455 CA6401188 |
75 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs775257788 CA6401186 |
77 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA232232206 rs989196157 |
78 | N>S | No |
ClinGen gnomAD |
|
|
rs958181671 CA232232205 |
80 | P>L | No |
ClinGen TOPMed |
|
|
rs759570730 CA6401184 |
81 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6401185 rs767542308 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774248276 CA6401183 |
82 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs770855584 CA6401182 |
85 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401181 rs749466572 |
86 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs749466572 CA383483280 |
86 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6401180 rs773545981 |
86 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277605495 CA383483275 |
87 | L>F | No |
ClinGen gnomAD |
|
|
rs1277605495 CA383483277 |
87 | L>V | No |
ClinGen gnomAD |
|
|
rs748302845 CA6401178 |
89 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182999590 CA6401177 COSM242969 |
89 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383483249 rs1160374798 |
90 | M>T | No |
ClinGen TOPMed |
|
|
rs1386477501 CA383483254 |
90 | M>V | No |
ClinGen gnomAD |
|
|
rs755436132 CA6401176 |
91 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1389717786 CA383483237 |
91 | H>Y | No |
ClinGen gnomAD |
|
|
CA383483218 rs1467082978 |
92 | F>S | No |
ClinGen gnomAD |
|
|
rs1400966986 CA383483202 |
93 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383483184 rs1430878716 |
94 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1463611002 CA383483190 |
94 | D>H | No |
ClinGen gnomAD |
|
|
rs1432289504 CA383483127 |
97 | R>M | No |
ClinGen gnomAD |
|
|
rs758820347 CA6401172 |
100 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401171 rs753427413 |
101 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1257999847 CA383483076 |
101 | Y>D | No |
ClinGen gnomAD |
|
|
rs752204027 CA6401168 |
104 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs201193412 CA6401169 |
104 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767167851 CA383483011 |
105 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401167 rs767167851 |
105 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298870646 CA383482979 |
106 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA232232203 rs951475127 |
107 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6401165 rs774446848 |
108 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401166 rs537935358 |
108 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6401163 rs201886102 |
110 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773278082 CA6401162 |
110 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201886102 CA6401164 |
110 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6401160 rs369637377 |
111 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3741903 VAR_021932 CA6401158 |
112 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6401159 rs776703055 |
112 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs370121016 CA6401156 |
113 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383482850 rs907382840 |
113 | H>P | No |
ClinGen gnomAD |
|
|
CA383482848 rs758730056 |
113 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232232196 rs907382840 |
113 | H>R | No |
ClinGen gnomAD |
|
|
CA6401154 rs746291533 |
114 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383482830 rs1450482017 |
115 | A>T | No |
ClinGen TOPMed |
|
|
CA6401153 rs779168841 |
115 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6401151 rs375833553 |
116 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1591794470 CA383482752 |
118 | F>S | No |
ClinGen Ensembl |
|
|
rs1308311042 CA383482735 |
119 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6401149 rs754596494 |
120 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA383482697 rs1459718671 |
121 | H>D | No |
ClinGen TOPMed |
|
|
rs1591794441 CA383482692 |
121 | H>P | No |
ClinGen Ensembl |
|
|
CA383482696 rs1459718671 |
121 | H>Y | No |
ClinGen TOPMed |
|
|
CA6401147 rs762636826 |
122 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401146 rs762636826 |
122 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1334197738 CA383482683 |
122 | S>T | No |
ClinGen gnomAD |
|
|
CA232232182 rs936369810 |
123 | L>P | No |
ClinGen Ensembl |
|
|
CA383482638 rs1228634727 |
124 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1299653264 CA383482608 |
126 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383482595 rs1419976727 |
127 | S>P | No |
ClinGen gnomAD |
|
|
rs762033755 CA6401143 |
128 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6401142 rs776892430 |
130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760782442 CA6401140 |
132 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs371931109 CA6401138 |
133 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779270163 CA6401136 |
134 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs746394919 CA6401137 |
134 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA383482473 rs1488113694 |
135 | P>R | No |
ClinGen gnomAD |
|
|
rs367630671 CA232232171 |
135 | P>S | No |
ClinGen ESP |
|
|
rs1024466062 CA232232169 |
136 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383482452 rs1237726530 |
137 | A>T | No |
ClinGen gnomAD |
|
|
rs1401107969 CA383482422 |
139 | G>R | No |
ClinGen TOPMed |
|
|
CA383482418 rs1313598525 |
139 | G>V | No |
ClinGen gnomAD |
|
|
CA383482350 rs1244066465 |
143 | I>T | No |
ClinGen gnomAD |
|
|
rs199618060 CA6401134 |
143 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383482341 rs1299555807 |
144 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383482325 rs1359535691 |
146 | G>R | No |
ClinGen gnomAD |
|
|
COSM1245103 CA6401127 rs550810570 |
147 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6401128 rs550810570 |
147 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs3741901 VAR_057286 CA6401129 |
147 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1194505096 CA383482279 |
149 | D>A | No |
ClinGen gnomAD |
|
|
rs200918253 CA383482288 |
149 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200918253 CA6401123 |
149 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6401121 rs772050768 |
150 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232232152 rs772050768 |
150 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201271706 CA6401118 |
154 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568337714 CA6401116 |
155 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383482123 rs1326954968 |
158 | Q>* | No |
ClinGen TOPMed |
|
|
CA6401113 rs746661048 |
159 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768378233 CA6401114 |
159 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401112 rs779651101 |
160 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757899971 CA6401111 |
165 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560146978 CA232232141 |
167 | M>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA383482059 rs1323369076 |
167 | M>R | No |
ClinGen gnomAD |
|
|
rs1220918601 CA383482046 |
169 | A>P | No |
ClinGen TOPMed |
|
|
rs745810974 CA6401110 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA232232137 rs540523526 |
174 | E>D | No |
ClinGen 1000Genomes |
|
|
rs757053991 CA6401108 |
176 | D>E | No |
ClinGen ExAC |
|
|
CA6401092 rs745418747 |
180 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6401090 rs188188562 |
181 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1208302469 CA383481933 |
183 | G>V | No |
ClinGen TOPMed |
|
|
CA383481931 rs1591700820 |
184 | S>P | No |
ClinGen Ensembl |
|
|
rs1448868453 CA383481913 |
186 | F>L | No |
ClinGen gnomAD |
|
|
rs1264069935 CA383481915 |
186 | F>S | No |
ClinGen TOPMed |
|
|
CA6401087 rs755963554 |
187 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755963554 CA383481911 |
187 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145000655 CA383481905 |
188 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145000655 CA6401084 |
188 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3398968 rs767675843 CA6401085 |
188 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375854022 CA232233392 |
189 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751548303 CA6401083 |
190 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383481889 rs763491972 |
191 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763491972 CA6401081 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773909167 CA6401080 |
192 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232233346 rs757805406 |
193 | W>R | No |
ClinGen Ensembl |
|
|
rs765690432 CA6401079 |
194 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401076 rs771574067 |
195 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA383481864 rs369587213 |
195 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6401077 rs369587213 |
195 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745565812 CA6401075 |
197 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1423747455 CA383481831 |
200 | A>V | No |
ClinGen gnomAD |
|
|
rs1385797981 CA383481830 |
201 | E>K | No |
ClinGen gnomAD |
|
|
CA6401074 rs773668609 |
205 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA383481798 rs1315596556 |
205 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770441524 CA6401073 |
206 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA232233332 rs376712231 |
207 | V>I | No |
ClinGen Ensembl |
|
|
rs1415328442 CA383481774 |
209 | T>A | No |
ClinGen TOPMed |
|
|
CA383481772 rs1378492335 |
209 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383481768 rs777756312 |
210 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401071 rs777756312 |
210 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401070 rs769548858 |
211 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA232282900 rs988365230 |
212 | E>G | No |
ClinGen gnomAD |
|
|
CA383485585 rs746091886 CA6401029 |
213 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772377522 CA6401030 |
213 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA383485583 rs1157311642 |
214 | Y>H | No |
ClinGen gnomAD |
|
|
rs757415742 CA6401027 |
215 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451448656 CA383485549 |
218 | A>V | No |
ClinGen TOPMed |
|
|
CA383485528 rs778386081 |
222 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753013911 CA6401023 |
222 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401025 rs778386081 |
222 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1194726497 CA383485523 |
223 | A>T | No |
ClinGen gnomAD |
|
|
rs757982940 CA6401021 |
224 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232268012 rs1004961555 |
228 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6401019 rs764719117 |
228 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232268011 rs1004961555 |
228 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776408284 CA6401017 |
229 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA383485470 rs1446995754 |
231 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383485454 rs1305187677 |
233 | L>P | No |
ClinGen TOPMed |
|
|
CA6401016 rs764041050 |
234 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772006493 CA6401013 |
235 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546594650 CA232267987 |
235 | S>P | No |
ClinGen Ensembl |
|
|
rs772006493 CA6401014 |
235 | S>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6401011 rs774781962 |
237 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs372272523 CA6401010 |
238 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187266434 CA383485427 |
238 | Q>R | No |
ClinGen TOPMed |
|
|
CA6401007 rs756606568 |
240 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401008 rs756606568 |
240 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748663040 CA6401006 |
240 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383485410 rs1426766477 |
241 | V>G | No |
ClinGen TOPMed |
|
|
rs755399378 CA6401004 |
246 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs750042659 CA6401003 |
247 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs750042659 CA383485369 |
247 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA383485359 rs1565706911 |
248 | K>N | No |
ClinGen Ensembl |
|
|
rs1167592063 CA383485365 |
248 | K>Q | No |
ClinGen TOPMed |
|
|
CA383485344 rs1213069168 |
250 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383485336 rs1591669991 |
251 | N>T | No |
ClinGen Ensembl |
|
|
CA383485319 rs1325847566 |
254 | Y>H | No |
ClinGen gnomAD |
|
|
rs753346613 CA6400999 |
255 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763515201 CA6400998 |
255 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753346613 CA383485311 |
255 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1268718881 CA383485283 |
259 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1268718881 CA383485282 |
259 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA232267910 rs978264588 |
260 | K>R | No |
ClinGen Ensembl |
|
|
CA383485061 rs1160463940 |
269 | K>Q | No |
ClinGen TOPMed |
|
|
rs1469176110 CA383485051 |
270 | D>G | No |
ClinGen gnomAD |
|
|
CA383485047 rs1591667651 |
271 | T>P | No |
ClinGen Ensembl |
|
|
rs1591667628 CA383485009 |
276 | A>P | No |
ClinGen Ensembl |
|
|
rs773368142 CA6400971 |
277 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773368142 CA383485003 |
277 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs769882345 CA6400970 |
278 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769882345 CA383484997 |
278 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400969 rs761926941 |
278 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400967 rs776711703 |
280 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400965 rs185666885 |
280 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185666885 CA6400966 |
280 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780406953 CA6400964 |
281 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1448980432 CA383484980 |
281 | I>S | No |
ClinGen gnomAD |
|
|
CA383484982 rs1286055170 |
281 | I>V | No |
ClinGen gnomAD |
|
|
CA383484779 rs557197006 |
283 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1489797133 CA383484785 |
283 | H>R | No |
ClinGen TOPMed |
|
|
CA383484777 rs1485146496 |
284 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6400945 rs775926683 |
285 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1214934107 CA383484727 |
288 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383484725 rs368783366 |
288 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6400944 rs368783366 |
288 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1220641426 CA383484716 |
289 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383484713 rs1308332989 |
290 | A>S | No |
ClinGen gnomAD |
|
|
CA6400942 rs376219260 |
290 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA383484698 rs769532831 |
292 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6400941 rs769532831 |
292 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6400939 rs780794240 |
293 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA232264668 rs961449593 |
295 | N>Y | No |
ClinGen Ensembl |
|
|
rs1483259520 CA383484665 |
297 | T>M | No |
ClinGen gnomAD |
|
|
rs746966390 CA383484659 |
298 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs746966390 CA6400937 |
298 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383481500 rs1454785819 |
299 | G>D | No |
ClinGen gnomAD |
|
|
rs1463142936 CA383484645 |
299 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1277686553 CA383481456 |
300 | I>T | No |
ClinGen TOPMed |
|
|
CA6400905 rs752679741 |
303 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs374607322 CA6400903 |
304 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6400901 rs766849165 |
305 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6400902 rs752172270 |
305 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232248817 rs752172270 |
305 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763455001 CA6400900 |
306 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753673680 CA6400899 |
307 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383481229 rs1365528056 |
308 | I>T | No |
ClinGen gnomAD |
|
|
CA232248796 rs559533457 |
309 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA383481157 rs1259559144 |
311 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383481163 rs1259559144 |
311 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383481142 rs1236265567 |
311 | A>V | No |
ClinGen gnomAD |
|
|
rs1215237774 CA383481082 |
315 | L>V | No |
ClinGen TOPMed |
|
|
rs760376333 CA6400897 |
316 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs374528825 CA383481061 |
317 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6400880 rs765660266 |
318 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6400879 rs760225765 |
319 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771480097 CA6400877 |
320 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6400874 rs770787019 |
321 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762738983 CA383480403 |
321 | D>N | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762738983 CA6400875 |
321 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1591638014 CA383480366 |
322 | S>R | No |
ClinGen Ensembl |
|
|
CA6400871 rs571512821 |
325 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6400872 rs777381256 |
325 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6400869 rs781540782 |
326 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400867 rs747022890 |
327 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6400868 rs755091880 |
327 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383480245 rs1191889500 |
329 | D>V | No |
ClinGen TOPMed |
|
|
CA6400865 rs374193552 |
330 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1012191340 CA232242618 |
332 | L>M | No |
ClinGen TOPMed |
|
|
rs781167962 CA232242604 |
334 | Y>C | No |
ClinGen Ensembl |
|
|
CA6400841 rs765841594 |
335 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400840 rs765841594 |
335 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383479331 rs765841594 |
335 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177282000 CA383479292 |
336 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA383479279 rs1244450161 |
337 | W>R | No |
ClinGen Ensembl |
|
|
rs1168364554 CA383479271 |
337 | W>S | No |
ClinGen TOPMed |
|
|
CA383479248 rs1469255109 |
338 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6400838 rs372991029 |
339 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486183196 CA383479231 |
339 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1486183196 CA383479230 |
339 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6400837 rs765159410 |
340 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs867267935 CA232242539 |
341 | G>E | No |
ClinGen TOPMed |
|
|
CA232242544 rs369302754 |
341 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs867267935 CA232242537 |
341 | G>V | No |
ClinGen TOPMed |
|
|
CA603081052 rs1223282412 |
344 | Y>* | No |
ClinGen gnomAD |
|
|
CA232242536 rs375995361 |
344 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA232242535 rs988082880 |
345 | K>E | No |
ClinGen gnomAD |
|
|
CA383479147 rs988082880 |
345 | K>Q | No |
ClinGen gnomAD |
|
|
rs1181152557 CA383479117 |
347 | Q>* | No |
ClinGen Ensembl |
|
|
CA383479111 rs1327246028 |
347 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383479108 rs538713897 |
348 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs538713897 CA232242520 |
348 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761691218 CA6400836 |
349 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232242496 rs902628776 |
350 | D>E | No |
ClinGen TOPMed |
|
|
rs567741205 CA232242498 |
350 | D>G | No |
ClinGen gnomAD |
|
|
CA383479080 rs776441986 |
350 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400835 rs776441986 |
350 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761790921 CA6400818 |
354 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383484256 rs753762408 |
355 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs753762408 CA6400817 |
355 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
rs1385743415 CA383484231 |
357 | G>* | No |
ClinGen gnomAD |
|
|
CA383484230 rs1385743415 |
357 | G>R | No |
ClinGen gnomAD |
|
|
rs1461576693 CA383484187 |
359 | K>N | No |
ClinGen gnomAD |
|
|
rs199731523 CA6400816 |
361 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760607501 CA6400815 |
363 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400813 rs772354209 |
366 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA6400814 rs775440453 |
366 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA383484086 rs1397868546 |
368 | G>E | No |
ClinGen TOPMed |
|
|
rs774440080 CA6400811 |
370 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA232256088 rs1056701596 |
371 | T>I | No |
ClinGen TOPMed |
|
|
CA383484007 rs1263893912 |
375 | I>T | No |
ClinGen gnomAD |
|
|
rs1309012193 CA383483969 |
379 | V>I | No |
ClinGen gnomAD |
|
|
CA6400808 rs71579301 |
380 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6400809 rs71579301 |
380 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1227523305 CA383483948 |
381 | G>R | No |
ClinGen gnomAD |
|
|
rs770128608 CA6400807 |
384 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1351100819 CA383483904 |
385 | F>L | No |
ClinGen TOPMed |
|
|
CA383483886 rs1214872638 |
386 | L>R | No |
ClinGen TOPMed |
|
|
CA383483878 rs1441000434 |
387 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs748450694 CA6400806 |
387 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291409468 CA383483836 |
391 | T>A | No |
ClinGen gnomAD |
|
|
rs758023313 CA6400804 |
392 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1355442025 CA383483787 |
394 | E>D | No |
ClinGen gnomAD |
|
|
CA6400803 rs750095860 |
395 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6400802 rs140397984 |
396 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6400801 rs765596985 |
397 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400800 rs753814699 |
398 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6400783 rs374954494 |
400 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_061853 CA6400782 rs17788563 |
401 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383483015 rs1465420118 |
404 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs543098565 CA6400781 |
405 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6400780 rs756067522 |
405 | Q>R | No |
ClinGen ExAC |
|
|
rs1370686040 CA383482946 |
407 | A>S | No |
ClinGen TOPMed |
|
|
rs1232791975 CA383482889 |
410 | M>T | No |
ClinGen TOPMed |
|
|
CA383482805 rs767311671 |
415 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395886739 CA383482794 |
416 | K>R | No |
ClinGen gnomAD |
|
|
CA6400777 rs754794132 |
418 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs751791420 CA6400776 |
418 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs766450139 CA6400775 |
420 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA232251578 rs866460257 |
421 | W>* | No |
ClinGen Ensembl |
|
|
CA232251565 rs368195594 |
421 | W>C | No |
ClinGen ESP TOPMed |
|
|
CA6400774 rs763164200 |
422 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1591558835 CA383482702 |
422 | N>T | No |
ClinGen Ensembl |
|
|
CA383482706 rs1157154043 |
422 | N>Y | No |
ClinGen gnomAD |
|
|
rs201903128 CA383482658 CA383482654 |
425 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201903128 CA6400773 |
425 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400770 rs375251732 |
430 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202039188 CA6400769 |
430 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383482538 rs1226144890 |
431 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383482519 rs1336496616 |
432 | A>V | No |
ClinGen gnomAD |
|
|
CA383482488 rs1294227073 |
434 | H>R | No |
ClinGen gnomAD |
|
|
CA6400767 rs775929956 |
435 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1339146504 CA383482440 |
436 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383482391 rs1387951882 |
438 | N>K | No |
ClinGen gnomAD |
|
|
CA383482399 rs1591558662 |
438 | N>T | No |
ClinGen Ensembl |
|
|
rs1383291876 CA383482403 |
438 | N>Y | No |
ClinGen gnomAD |
|
|
rs201406615 CA232251510 |
439 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6400765 rs201406615 |
439 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6400763 rs755725535 |
442 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400761 rs781048169 CA383482297 |
443 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs558887022 CA6400762 |
443 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232251486 rs988275857 |
444 | F>S | No |
ClinGen Ensembl |
|
|
rs201149107 CA6400759 |
446 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383482192 rs1401071090 |
449 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1449820349 CA383482202 |
449 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6400758 rs368242308 |
451 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6400757 rs755464391 |
452 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377422245 CA6400737 |
453 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377422245 CA383481645 |
453 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757477074 CA6400735 |
454 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs757477074 CA383481641 |
454 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs779053051 CA6400736 |
454 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228066321 CA383481495 |
461 | R>K | No |
ClinGen gnomAD |
|
|
rs1407453667 CA383481470 |
462 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs753823981 CA6400734 |
463 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753823981 CA383481459 |
463 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383481431 rs1305960853 |
464 | M>L | No |
ClinGen gnomAD |
|
|
CA6400733 rs201292658 |
465 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202175340 CA383481397 |
465 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202175340 CA6400732 |
465 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1409590340 CA383481380 |
466 | L>P | No |
ClinGen gnomAD |
|
|
rs753287061 CA6400731 |
466 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410126119 CA383481355 |
467 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1472075750 CA383481372 |
467 | G>S | No |
ClinGen gnomAD |
|
|
CA383481334 rs1278747690 |
468 | Y>C | No |
ClinGen TOPMed |
|
|
rs1241989769 CA383481313 |
469 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1483815256 CA383481278 |
471 | D>E | No |
ClinGen gnomAD |
|
|
rs202155541 CA6400729 |
471 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192916401 CA232247285 |
472 | L>M | No |
ClinGen 1000Genomes |
|
|
rs796498428 CA232247281 |
473 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383481225 rs796498428 |
473 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383481222 rs1208690203 |
474 | G>S | No |
ClinGen gnomAD |
|
|
rs1448787933 CA383481179 |
476 | E>D | No |
ClinGen gnomAD |
|
|
rs774867767 CA6400728 |
477 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6400726 rs761555644 |
479 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1302806542 CA383479656 |
480 | E>D | No |
ClinGen gnomAD |
|
|
CA6400703 RCV000964327 rs149972273 |
481 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760178168 CA6400702 |
481 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400704 rs149972273 |
481 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232241387 rs868068422 |
484 | E>K | No |
ClinGen gnomAD |
|
|
CA383479516 rs868068422 |
484 | E>Q | No |
ClinGen gnomAD |
|
|
CA6400678 rs770617654 |
487 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383479430 rs1181172734 |
488 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs987438653 CA232241380 |
489 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6400677 rs749052800 |
490 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1460835574 CA383479311 |
492 | T>A | No |
ClinGen Ensembl |
|
|
CA383479293 rs1591536553 |
493 | K>E | No |
ClinGen Ensembl |
|
|
CA6400676 rs750547819 |
495 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383479241 rs750547819 |
495 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400675 rs375457985 |
495 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6400674 rs748400409 |
496 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6400671 rs747511223 |
503 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232241309 rs764967451 |
504 | Q>K | No |
ClinGen gnomAD |
|
|
CA383478579 rs1591536456 |
504 | Q>P | No |
ClinGen Ensembl |
|
|
rs1860961 CA6400669 VAR_020331 |
505 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1860961 CA6400670 |
505 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373654644 CA6400664 |
510 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400108513 CA383478428 |
514 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs370465886 CA6400662 |
515 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383478414 rs1254989592 |
516 | E>Q | No |
ClinGen TOPMed |
|
|
rs1157266747 CA383478400 |
517 | C>R | No |
ClinGen gnomAD |
|
|
CA6400660 rs762829398 |
517 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs999070264 CA232241198 |
519 | D>N | No |
ClinGen TOPMed |
|
|
rs1591814486 CA383473994 |
521 | D>E | No |
ClinGen Ensembl |
|
|
CA6400633 rs369795691 |
521 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232285538 rs369795691 COSM941934 |
521 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1191599168 CA383473987 |
522 | D>G | No |
ClinGen gnomAD |
|
|
CA232285510 rs926602563 |
523 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1295497566 CA383473972 |
523 | E>G | No |
ClinGen gnomAD |
|
|
rs1295497566 CA383473971 |
523 | E>V | No |
ClinGen gnomAD |
|
|
CA6400632 rs771440665 |
524 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA383473935 rs1385985098 |
526 | L>Q | No |
ClinGen gnomAD |
|
|
CA383473937 rs1323214055 |
526 | L>V | No |
ClinGen gnomAD |
|
|
CA383473922 rs1309725699 |
527 | T>I | No |
ClinGen gnomAD |
|
|
rs754574890 CA6400629 |
528 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388942950 CA383473906 |
528 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6400628 rs751215221 |
530 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779581544 CA6400627 |
531 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757910195 CA6400626 |
531 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750357298 CA6400625 |
533 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232285471 rs910529887 |
533 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765202673 CA6400624 |
534 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753643053 CA6400622 |
537 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400623 rs757294303 |
537 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383473757 rs1221009070 |
540 | A>V | No |
ClinGen gnomAD |
|
|
rs1279171249 CA383473754 |
541 | S>T | No |
ClinGen TOPMed |
|
|
CA383473693 rs1206044104 |
545 | M>I | No |
ClinGen TOPMed |
|
|
CA383473698 rs1343371430 |
545 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383473696 rs1343371430 |
545 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6400600 rs755921891 |
548 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1236920098 CA383472141 |
549 | T>A | No |
ClinGen gnomAD |
|
|
CA232273723 rs900609306 |
552 | I>T | No |
ClinGen Ensembl |
|
|
rs200078432 RCV000950213 CA6400598 |
552 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs774365666 CA383472115 |
553 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6400596 rs774365666 |
553 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA232273694 rs944779396 |
558 | V>A | No |
ClinGen TOPMed |
|
|
rs374184483 CA6400595 |
558 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232273680 rs1047719982 |
559 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6400594 rs763415543 |
559 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA232273678 rs372864505 |
560 | R>* | No |
ClinGen ESP TOPMed |
|
|
CA232273677 rs773771654 |
560 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773771654 CA6400593 |
560 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368489336 CA6400592 |
562 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383472060 rs1449789412 |
563 | T>P | No |
ClinGen gnomAD |
|
|
rs748401795 CA6400591 |
563 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1433948759 CA383472054 |
564 | A>P | No |
ClinGen gnomAD |
|
|
CA6400590 rs373762182 |
564 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383472043 rs779424459 |
566 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400588 rs779424459 |
566 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413699658 CA383472040 |
566 | A>V | No |
ClinGen gnomAD |
|
|
CA6400586 rs770632937 |
568 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA383472028 rs1165571645 |
569 | L>V | No |
ClinGen TOPMed |
|
|
rs749224901 CA6400584 |
570 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400582 rs756083891 |
574 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400580 rs781061139 |
574 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400581 rs781061139 |
574 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400583 rs756083891 |
574 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400579 rs755132323 |
576 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755452999 CA232273572 |
577 | V>G | No |
ClinGen gnomAD |
|
|
CA6400577 rs766437380 |
578 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6400578 rs370829559 |
578 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383471968 rs1591786764 |
579 | V>G | No |
ClinGen Ensembl |
|
|
rs1246892972 CA383471965 |
580 | T>S | No |
ClinGen TOPMed |
|
|
rs374634976 CA6400575 |
581 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750512780 CA6400574 |
583 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6400573 rs765593244 |
584 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs749888230 CA6400572 |
585 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1211534341 CA383471924 |
587 | I>M | No |
ClinGen TOPMed |
|
|
rs971133766 CA232273541 |
587 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA232273535 rs191188083 |
589 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA383471900 rs1427487883 |
591 | V>A | No |
ClinGen gnomAD |
|
|
rs769108613 CA6400570 |
591 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383471891 rs1488655230 |
593 | I>V | No |
ClinGen gnomAD |
|
|
CA383471883 rs1220079753 |
594 | L>F | No |
ClinGen gnomAD |
|
|
CA6400567 rs201079863 |
598 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1305297350 CA383471859 |
598 | E>K | No |
ClinGen gnomAD |
|
|
CA6400565 rs777455201 |
601 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748165730 CA6400563 |
602 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400562 rs112073363 |
605 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383471802 rs1460506023 |
606 | W>* | No |
ClinGen gnomAD |
|
|
CA6400559 rs780189692 |
608 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs184602163 CA6400539 |
612 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184602163 CA6400538 |
612 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753877340 CA6400537 |
613 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429801640 CA383470499 |
615 | T>A | No |
ClinGen gnomAD |
|
|
rs1444077886 CA383470495 |
615 | T>I | No |
ClinGen TOPMed |
|
|
CA383470493 rs1305524433 |
616 | E>K | No |
ClinGen Ensembl |
|
|
CA6400535 rs375363538 |
617 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771155401 CA6400534 |
618 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768041346 CA6400533 |
622 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373395051 CA6400532 |
622 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768041346 CA232254306 |
622 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400531 rs200489175 |
623 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6400530 rs764635461 |
624 | I>L | No |
ClinGen ExAC |
|
|
CA6400528 rs776006110 |
625 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768537967 CA6400527 |
626 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952360258 CA232254223 |
627 | A>G | No |
ClinGen TOPMed |
|
|
CA6400526 rs201762967 |
627 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771925226 CA6400524 |
630 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746081039 CA6400523 |
634 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260679075 CA603078435 |
636 | Y>* | No |
ClinGen gnomAD |
|
|
rs1431621026 CA383470362 |
636 | Y>C | No |
ClinGen TOPMed |
|
|
rs1203754465 CA383470353 |
637 | S>F | No |
ClinGen gnomAD |
|
|
CA383470349 rs1266524751 |
638 | P>L | No |
ClinGen gnomAD |
|
|
CA6400522 rs140993860 |
638 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383470351 rs140993860 |
638 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757425419 CA6400521 |
641 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749348947 CA6400520 |
643 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6400518 rs756665304 |
646 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs201214063 CA6400517 |
646 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1014987059 CA232254143 |
648 | R>W | No |
ClinGen Ensembl |
|
|
rs1309825330 CA383470140 |
649 | F>S | No |
ClinGen gnomAD |
|
|
CA6400501 rs61910084 |
650 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6400502 rs771139190 |
650 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1478810004 CA383470127 |
651 | G>D | No |
ClinGen gnomAD |
|
|
rs1351433820 CA383470124 |
652 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6400500 rs190902838 |
654 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770062677 CA6400499 |
655 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs748647903 CA383470103 CA6400498 |
655 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383470098 rs1310218589 |
656 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6400496 rs755546576 |
657 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755546576 CA232251973 |
657 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383470086 rs1270975241 |
658 | Y>C | No |
ClinGen gnomAD |
|
|
rs367647989 CA383470070 |
660 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6400494 rs754933071 |
661 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400493 rs373586770 |
664 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753503093 CA6400492 |
664 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753503093 CA383470044 |
664 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232251924 rs990274913 |
665 | M>I | No |
ClinGen TOPMed |
|
|
CA383470006 rs1450015561 |
668 | C>R | No |
ClinGen gnomAD |
|
|
rs767067031 CA6400470 |
669 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383469984 rs1406389161 |
670 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6400468 rs200561749 |
672 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1445268766 CA383469960 |
672 | G>V | No |
ClinGen gnomAD |
|
|
CA6400466 rs762593801 |
673 | C>R | No |
ClinGen ExAC TOPMed |
|
|
rs1384696117 CA383469940 |
674 | L>P | No |
ClinGen TOPMed |
|
|
CA383469934 rs1399236609 |
675 | M>T | No |
ClinGen TOPMed |
|
|
CA6400464 rs773145939 |
675 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383469907 rs1336378140 |
677 | L>P | No |
ClinGen TOPMed |
|
|
rs1359848760 CA383469892 |
679 | I>L | No |
ClinGen TOPMed |
|
|
CA383469872 rs1242974431 |
680 | Q>K | No |
ClinGen gnomAD |
|
|
rs1216201344 CA383469869 |
680 | Q>R | No |
ClinGen gnomAD |
|
|
CA383469845 rs1446261077 |
682 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383469826 rs762147319 |
684 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400462 rs762147319 |
684 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400460 rs371158322 CA6400461 |
685 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232251652 rs207472633 |
685 | M>T | No |
ClinGen Ensembl |
|
|
CA6400459 rs377038582 |
686 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772637340 CA6400457 |
687 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs775803788 CA6400458 |
687 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383469784 rs1430438481 |
688 | K>* | No |
ClinGen gnomAD |
|
|
CA383469775 rs1343827906 |
688 | K>N | No |
ClinGen gnomAD |
|
|
rs1425851125 CA383469734 |
692 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1201860118 CA383469719 |
693 | N>D | No |
ClinGen TOPMed |
|
|
CA383469689 rs1278847902 |
695 | I>T | No |
ClinGen TOPMed |
|
|
rs955473956 CA232251612 |
698 | I>T | No |
ClinGen Ensembl |
|
|
CA383469658 rs1161733026 |
698 | I>V | No |
ClinGen gnomAD |
|
|
CA383469651 rs1451481624 |
699 | G>R | No |
ClinGen gnomAD |
|
|
rs779274724 CA6400455 |
699 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1441359754 CA383469644 |
700 | V>I | No |
ClinGen TOPMed |
|
|
rs1186168335 CA383469633 |
701 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383469416 rs1384794359 |
702 | K>T | No |
ClinGen TOPMed |
|
|
rs771355057 CA6400437 |
703 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6400435 rs368566641 |
708 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383469376 rs199765638 |
708 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199765638 CA6400434 |
708 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746462052 CA6400433 |
711 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383469344 rs1266481656 |
713 | E>G | No |
ClinGen TOPMed |
|
|
rs201334213 CA6400430 |
715 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6400429 rs528967840 |
718 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383469306 rs1393649997 |
719 | T>A | No |
ClinGen gnomAD |
|
|
CA6400427 rs757061440 |
723 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764183496 CA6400425 |
724 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764183496 CA6400426 |
724 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752700191 CA6400423 |
726 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs752700191 CA383469261 |
726 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6400422 rs767679275 |
728 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760034437 CA6400421 |
730 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420821632 CA383469222 |
731 | D>G | No |
ClinGen gnomAD |
|
|
rs374448837 CA6400419 |
735 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375652166 CA232239299 |
737 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA6400418 rs763232836 |
738 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs201565280 CA6400417 |
739 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768144503 CA6400416 |
740 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA6400415 rs746722987 |
741 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs746722987 CA383469156 |
741 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA383469142 rs1306962612 |
744 | P>A | No |
ClinGen gnomAD |
|
|
rs779397847 CA6400414 |
744 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383469126 rs1243208753 |
746 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778929902 CA383469120 |
747 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs778929902 CA6400411 |
747 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs370556103 CA232239254 |
747 | M>V | No |
ClinGen ESP TOPMed |
|
|
rs1208358663 CA383469111 |
748 | E>G | No |
ClinGen TOPMed |
|
|
CA383474674 rs1301960331 |
751 | I>V | No |
ClinGen TOPMed |
|
|
CA383474661 rs1194904947 |
752 | Q>H | No |
ClinGen gnomAD |
|
|
rs778589015 CA6400394 |
754 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6400392 rs376871257 |
757 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6400393 rs770974212 |
757 | T>P | No |
ClinGen ExAC |
|
|
CA232251904 rs919009555 |
758 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA232251899 rs199625786 |
760 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs755998822 CA383474611 |
761 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400390 rs755998822 |
761 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474603 rs1565431802 |
762 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs752444696 CA6400388 |
764 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565431783 CA383474592 |
764 | P>T | No |
ClinGen Ensembl |
|
|
rs561669210 CA6400385 |
766 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751003159 CA6400382 |
770 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400383 rs751003159 |
770 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303737582 CA383474554 |
770 | A>V | No |
ClinGen gnomAD |
|
|
rs765505051 CA6400380 |
772 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6400379 rs377226128 |
774 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383474524 rs1372205612 |
775 | V>A | No |
ClinGen gnomAD |
|
|
CA6400377 rs202127463 |
775 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191954378 CA383474518 |
776 | I>T | No |
ClinGen gnomAD |
|
|
CA232251772 rs558854484 |
778 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6400376 rs558854484 |
778 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369114987 CA6400374 |
779 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6400375 rs189494523 |
779 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6400371 rs372985872 |
781 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400369 rs780983757 |
783 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216544376 CA383474469 |
784 | K>M | No |
ClinGen gnomAD |
|
|
rs1216544376 CA383474470 |
784 | K>R | No |
ClinGen gnomAD |
|
|
CA232251744 rs200339693 |
785 | F>C | No |
ClinGen 1000Genomes |
|
|
rs755166686 CA6400368 |
787 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474440 rs1283802228 |
789 | L>M | No |
ClinGen gnomAD |
|
|
CA6400366 rs556140390 |
791 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6400367 rs761883684 |
791 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400365 rs370114605 |
792 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400363 rs371928953 |
795 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383474388 rs1218803766 |
798 | K>E | No |
ClinGen TOPMed |
|
|
rs944276712 CA232251706 |
799 | D>G | No |
ClinGen TOPMed |
|
|
CA6400361 rs774552828 CA6400360 |
801 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1317488812 CA383474346 |
802 | I>T | No |
ClinGen TOPMed |
|
|
rs201112965 CA6400330 |
803 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772316621 CA383474340 |
803 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772316621 CA6400331 |
803 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232251146 rs1037852037 |
807 | L>F | No |
ClinGen Ensembl |
|
|
CA6400323 rs76902653 |
810 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6400322 rs753059380 |
811 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474263 rs753059380 |
811 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288652119 CA383474260 |
812 | K>E | No |
ClinGen gnomAD |
|
|
CA6400299 rs753324822 |
819 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383473307 rs1481356818 |
819 | A>V | No |
ClinGen gnomAD |
|
|
CA6400298 rs763636030 |
820 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1197663470 CA383473291 |
821 | V>I | No |
ClinGen gnomAD |
|
|
CA6400297 rs756043314 |
822 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265406919 CA383473276 |
822 | I>T | No |
ClinGen gnomAD |
|
|
rs1312089792 CA383473264 |
823 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383473254 rs1257049449 |
824 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1174217686 CA383473241 |
825 | T>I | No |
ClinGen Ensembl |
|
|
rs759191165 CA6400294 |
827 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144224656 CA6400291 |
830 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232249188 rs1001453035 |
831 | R>C | No |
ClinGen gnomAD |
|
|
CA383473175 rs1001453035 |
831 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6400290 rs569255760 |
831 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA383473171 rs569255760 |
831 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1001453035 CA383473176 |
831 | R>S | No |
ClinGen gnomAD |
|
|
rs1274580429 CA383473160 |
833 | V>M | No |
ClinGen gnomAD |
|
|
rs776943829 CA6400287 |
834 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420316052 CA383473147 |
834 | Y>H | No |
ClinGen gnomAD |
|
|
rs1437423425 CA383473118 |
836 | Y>H | No |
ClinGen gnomAD |
|
|
CA6400285 rs769210819 |
837 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs747295911 CA6400284 |
837 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780446321 CA6400283 |
838 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232249101 rs201269641 |
839 | S>G | No |
ClinGen TOPMed |
|
|
CA6400281 rs749008626 |
841 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383473024 rs1308609018 |
843 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6400280 rs777253822 |
845 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs755523500 CA383473004 |
845 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400277 rs754969629 |
846 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549254794 CA6400278 |
846 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6400276 rs754969629 |
846 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472954 rs1401272239 |
849 | N>S | No |
ClinGen gnomAD |
|
|
rs751286461 CA6400275 |
850 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766313424 CA6400274 |
851 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763260043 CA6400273 |
856 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400271 rs202214559 |
857 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202214559 CA6400270 |
857 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383472815 rs1229388902 |
860 | L>P | No |
ClinGen TOPMed |
|
|
CA383472790 rs1288005551 |
862 | E>G | No |
ClinGen TOPMed |
|
|
rs1254523236 CA383472763 |
864 | T>A | No |
ClinGen gnomAD |
|
|
CA6400268 rs373383415 |
864 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA232248946 rs370009590 |
865 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA6400266 rs775829557 |
866 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472715 rs1441843437 |
868 | N>D | No |
ClinGen TOPMed |
|
|
rs1293459499 CA383472696 |
869 | S>* | No |
ClinGen gnomAD |
|
|
CA6400264 rs189268715 |
872 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348346269 CA383472615 |
875 | V>I | No |
ClinGen gnomAD |
|
|
CA6400263 rs777342120 |
878 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA383471610 rs1198217129 |
881 | K>E | No |
ClinGen gnomAD |
|
|
rs1449958764 CA383471602 |
882 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1591632925 CA383471591 |
883 | Y>S | No |
ClinGen Ensembl |
|
|
rs746528171 CA6400241 |
884 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA383471586 rs746528171 |
884 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs183862441 CA6400240 |
884 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1591632885 CA383471577 |
885 | E>D | No |
ClinGen Ensembl |
|
|
CA6400238 COSM1721489 rs372358207 |
886 | P>L | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372358207 CA6400239 |
886 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383471572 rs372358207 |
886 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216640263 CA383471569 |
887 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1275414983 CA383471559 |
888 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1325554779 CA383471564 |
888 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA232239396 rs541138705 |
889 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs754149600 CA6400235 |
890 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754149600 CA383471548 |
890 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308614980 CA383471549 |
890 | P>S | No |
ClinGen gnomAD |
|
|
CA383471525 rs527734859 |
893 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383471528 rs1471186321 |
893 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA383471522 rs1172533968 |
894 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383471523 rs1172533968 |
894 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA232239349 rs767967144 |
896 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400231 rs767967144 |
896 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1236621653 CA383471491 |
898 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs760089316 CA6400230 |
898 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA232239324 rs1006116282 |
899 | Y>C | No |
ClinGen TOPMed |
|
|
CA383471479 rs1565416676 |
900 | W>* | No |
ClinGen Ensembl |
|
|
CA6400228 rs747655609 CA383471475 |
900 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279195233 CA383471474 |
901 | F>I | No |
ClinGen gnomAD |
|
|
rs897115855 CA232239316 |
905 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs545044632 CA6400226 |
906 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400224 rs192113570 |
906 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400225 rs192113570 |
906 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775161949 CA6400223 |
908 | A>S | No |
ClinGen ExAC |
|
|
rs772112882 CA6400222 |
908 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745867134 CA6400221 |
911 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383471398 rs1454876523 |
913 | F>L | No |
ClinGen gnomAD |
|
|
rs1416023550 CA383471366 |
916 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6400200 rs777481159 |
917 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445357951 CA383471351 |
918 | M>I | No |
ClinGen TOPMed |
|
|
rs1377028043 CA383471331 |
921 | S>I | No |
ClinGen TOPMed |
|
|
CA383471328 rs377720747 |
921 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202613658 CA383471325 |
922 | V>D | No |
ClinGen TOPMed |
|
|
rs781231821 CA6400197 |
922 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751593582 CA6400195 |
923 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383471317 rs376930143 CA6400192 |
924 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376930143 CA6400191 |
924 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226914943 CA383471289 |
927 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6400190 rs138818944 |
927 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866112601 CA232237289 |
929 | P>L | No |
ClinGen Ensembl |
|
|
CA6400189 rs372919273 |
930 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375548202 CA6400188 |
933 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6400185 rs372300716 |
935 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6400183 rs773059306 |
937 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1328674883 CA383471115 |
939 | I>M | No |
ClinGen TOPMed |
|
|
CA232237247 rs769630475 |
939 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400182 rs769630475 |
939 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425519834 CA383471105 |
940 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383471075 rs1477450744 |
942 | E>G | No |
ClinGen gnomAD |
|
|
CA6400181 rs747947447 |
942 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383471067 rs1421436640 |
943 | K>Q | No |
ClinGen gnomAD |
|
|
CA6400180 rs781322541 |
943 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6400178 rs747060528 |
945 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs578224921 CA6400176 |
946 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs952142420 CA232237236 |
946 | L>S | No |
ClinGen gnomAD |
|
|
CA6400175 rs750959277 |
947 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA383470980 rs1316564274 |
949 | F>L | No |
ClinGen gnomAD |
|
|
rs779577005 CA6400174 |
950 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6400173 rs757629676 |
953 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA383470921 rs1198181305 |
954 | E>K | No |
ClinGen TOPMed |
|
|
rs767233096 CA6400171 |
956 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1027621179 CA232237194 |
956 | E>Q | No |
ClinGen Ensembl |
|
|
CA6400170 rs759162824 |
957 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464950030 CA383470820 |
961 | M>K | No |
ClinGen gnomAD |
|
|
rs368770009 CA6400169 |
961 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232237153 rs1031346339 |
962 | D>N | No |
ClinGen TOPMed |
|
|
CA6400168 rs201149284 |
964 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383470773 rs201149284 |
964 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383470781 rs1352640183 |
964 | P>T | No |
ClinGen gnomAD |
|
|
CA6400164 rs200700250 |
967 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367653045 CA6400163 |
968 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383470751 rs367653045 |
968 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324825418 CA383470746 |
969 | P>S | No |
ClinGen TOPMed |
|
|
CA6400162 rs768900031 |
971 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs757005046 CA232237126 |
971 | G>S | No |
ClinGen Ensembl |
|
|
rs747234786 CA6400161 |
972 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1456735345 CA383470732 |
972 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs569322226 CA6400160 |
974 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569322226 CA6400159 |
974 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383470718 rs201987081 |
974 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6400158 rs201987081 |
974 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA383470716 rs1276315063 |
975 | S>G | No |
ClinGen gnomAD |
|
|
rs751453525 CA6400157 |
978 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932573577 CA383470693 |
978 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs932573577 CA232237076 |
978 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751453525 CA232237092 |
978 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6400156 rs202054467 |
979 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs202054467 CA383470692 |
979 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6400153 rs778325216 |
981 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA383470668 rs1171167264 |
983 | A>T | No |
ClinGen gnomAD |
|
|
rs1421050686 CA383470660 |
984 | P>S | No |
ClinGen gnomAD |
|
|
rs766064326 CA6400150 |
986 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs757777122 CA6400149 |
986 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383470644 rs1258683282 |
987 | Q>* | No |
ClinGen gnomAD |
|
|
rs1483208620 CA383470614 |
991 | G>D | No |
ClinGen gnomAD |
|
|
CA232237030 rs907003320 |
993 | M>L | No |
ClinGen gnomAD |
|
|
CA383470603 rs907003320 |
993 | M>V | No |
ClinGen gnomAD |
|
|
CA383470588 rs1285532093 |
994 | M>I | No |
ClinGen gnomAD |
|
|
CA232237013 rs372014367 |
994 | M>L | No |
ClinGen gnomAD |
|
|
CA6400147 rs74058231 |
995 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6400145 rs776378576 |
996 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA232236975 rs945783101 |
998 | S>F | No |
ClinGen gnomAD |
|
|
CA383470571 rs1396456385 |
998 | S>T | No |
ClinGen gnomAD |
|
|
rs760937529 CA383470565 |
999 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6400143 rs760937529 |
999 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA6400142 rs199872408 |
1000 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477350990 CA383470557 |
1000 | H>R | No |
ClinGen TOPMed |
|
|
rs199872408 CA6400141 |
1000 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1451142001 CA383470553 |
1001 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6400140 rs201532779 |
1001 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750090811 CA6400139 |
1002 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750090811 CA383470544 |
1002 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423613153 CA383470539 |
1003 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA232236954 rs112492863 |
1004 | V>R | No |
ClinGen gnomAD |
|
|
CA383470530 rs1196509249 |
1004 | V>W | No |
ClinGen gnomAD |
No associated diseases with Q9NQ90
7 regional properties for Q9NQ90
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Translational (tr)-type GTP-binding domain | 10 - 204 | IPR000795 |
| domain | Translation elongation factor EFTu/EF1A, C-terminal | 298 - 392 | IPR004160 |
| domain | Translation elongation factor EFTu-like, domain 2 | 225 - 293 | IPR004161 |
| domain | Small GTP-binding protein domain | 13 - 148 | IPR005225 |
| conserved_site | Tr-type G domain, conserved site | 51 - 66 | IPR031157 |
| domain | Elongation factor Tu, domain 2 | 211 - 297 | IPR033720 |
| domain | Elongation factor Tu (EF-Tu), GTP-binding domain | 11 - 203 | IPR041709 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| intracellular calcium activated chloride channel activity | Enables the transmembrane transfer of chloride by a channel that opens in response to stimulus by a calcium ion or ions. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NW15 | ANO10 | Anoctamin-10 | Homo sapiens (Human) | PR |
| Q75V66 | ANO5 | Anoctamin-5 | Homo sapiens (Human) | PR |
| A1A5B4 | ANO9 | Anoctamin-9 | Homo sapiens (Human) | PR |
| Q6IWH7 | ANO7 | Anoctamin-7 | Homo sapiens (Human) | PR |
| A2AHL1 | Ano3 | Anoctamin-3 | Mus musculus (Mouse) | PR |
| Q14AT5 | Ano7 | Anoctamin-7 | Mus musculus (Mouse) | PR |
| Q8CFW1 | Ano2 | Anoctamin-2 | Mus musculus (Mouse) | PR |
| Q6IFT6 | Ano7 | Anoctamin-7 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATPGPRDIP | LLPGSPRRLS | PQAGSRGGQG | PKHGQQCLKM | PGPRAPGLQG | GSNRDPGQPC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGESTRSSSV | INNYLDANEP | VSLEARLSRM | HFHDSQRKVD | YVLAYHYRKR | GVHLAQGFPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HSLAIVSNGE | TGKEPHAGGP | GDIELGPLDA | LEEERKEQRE | EFEHNLMEAG | LELEKDLENK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SQGSIFVRIH | APWQVLAREA | EFLKIKVPTK | KEMYEIKAGG | SIAKKFSAAL | QKLSSHLQPR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPEHSNNKMK | NLSYPFSREK | MYLYNIQEKD | TFFDNATRSR | IVHEILKRTA | CSRANNTMGI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NSLIANNIYE | AAYPLHDGEY | DSPEDDMNDR | KLLYQEWARY | GVFYKFQPID | LIRKYFGEKI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLYFAWLGLY | TSFLIPSSVI | GVIVFLYGCA | TIEEDIPSRE | MCDQQNAFTM | CPLCDKSCDY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WNLSSACGTA | QASHLFDNPA | TVFFSIFMAL | WATMFLENWK | RLQMRLGYFW | DLTGIEEEEE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RAQEHSRPEY | ETKVREKMLK | ESNQSAVQKL | ETNTTECGDE | DDEDKLTWKD | RFPGYLMNFA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SILFMIALTF | SIVFGVIVYR | ITTAAALSLN | KATRSNVRVT | VTATAVIINL | VVILILDEIY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GAVAKWLTKI | EVPKTEQTFE | ERLILKAFLL | KFVNAYSPIF | YVAFFKGRFV | GRPGSYVYVF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DGYRMEECAP | GGCLMELCIQ | LSIIMLGKQL | IQNNIFEIGV | PKLKKLFRKL | KDETEAGETD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SAHSKHPEQW | DLDYSLEPYT | GLTPEYMEMI | IQFGFVTLFV | ASFPLAPVFA | LLNNVIEVRL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DAKKFVTELR | RPDAVRTKDI | GIWFDILSGI | GKFSVISNAF | VIAITSDFIP | RLVYQYSYSH |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NGTLHGFVNH | TLSFFNVSQL | KEGTQPENSQ | FDQEVQFCRF | KDYREPPWAP | NPYEFSKQYW |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FILSARLAFV | IIFQNLVMFL | SVLVDWMIPD | IPTDISDQIK | KEKSLLVDFF | LKEEHEKLKL |
| 970 | 980 | 990 | 1000 | ||
| MDEPALRSPG | GGDRSRSRAA | SSAPSGQSQL | GSMMSSGSQH | TNV |