Q02410
SS
Gene name |
APBA1 (MINT1, X11) |
Protein name |
Amyloid-beta A4 precursor protein-binding family A member 1 |
Names |
Adapter protein X11alpha, Neuron-specific X11 protein, Neuronal Munc18-1-interacting protein 1, Mint-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:320 |
EC number |
|
Protein Class |
|
Descriptions
Mint adaptor proteins bind to the amyloid precursor protein (APP) and regulate APP processing associated with Alzheimer’s disease. The Mint1 phosphotyrosine binding (PTB) domain that binds to APP is intramolecularly inhibited by the adjacent C-terminal linker region (the autoinhibitory helix) that folds back onto the core structure of the PTB domain and sterically hinders the APP binding site. This intramolecular interaction is disrupted by mutation of Tyr633 within Mint1 autoinhibitory helix, enhancing APP binding and β-amyloid production. As a result, Mint1 undergoes a conformational transition between a closed state that does not bind APP and an open state that involves APP binding and its proteolytic processing.
Autoinhibitory domains (AIDs)
Target domain |
456-643 (PTB domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for Q02410
683 variants for Q02410
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1322628606 CA373632080 |
5 | E>K | No |
ClinGen gnomAD |
|
|
CA373632065 rs1213382818 |
7 | S>P | No |
ClinGen gnomAD |
|
|
rs774241094 CA194001775 |
8 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774241094 CA373632057 |
8 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774241094 CA5075340 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391858507 CA373632050 |
9 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5075338 rs748743036 |
9 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5075336 rs769262299 |
16 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373632004 rs769262299 |
16 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050606584 CA373632001 |
17 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA194001773 rs1050606584 |
17 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1430278202 CA373631993 |
18 | G>D | No |
ClinGen gnomAD |
|
|
rs780334944 CA5075334 |
19 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1211923814 CA373631973 |
21 | V>G | No |
ClinGen gnomAD |
|
|
CA373631977 rs1251376019 |
21 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA373631964 rs1251151180 |
23 | E>K | No |
ClinGen gnomAD |
|
|
rs1225653625 CA373631951 |
24 | S>L | No |
ClinGen gnomAD |
|
|
rs1298916386 CA373631933 |
27 | A>D | No |
ClinGen gnomAD |
|
|
CA373631922 rs779517681 |
29 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs568011984 CA5075330 |
30 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373631908 rs1395282358 |
31 | H>Y | No |
ClinGen gnomAD |
|
|
CA5075328 rs764232135 |
32 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756349683 CA5075327 |
32 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs764232135 CA373631902 |
32 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172862703 CA373631898 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA373631887 rs1207212225 |
34 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373631890 rs1376048131 |
34 | V>M | No |
ClinGen gnomAD |
|
|
rs1434018161 CA373631876 |
36 | E>K | No |
ClinGen gnomAD |
|
|
rs759286320 CA5075324 |
39 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933557705 CA194001770 |
39 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774292528 CA5075323 |
40 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762450770 CA5075321 |
40 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs766242972 CA5075322 |
40 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631837 rs1041862301 |
41 | P>L | No |
ClinGen gnomAD |
|
|
CA194001769 rs1041862301 |
41 | P>R | No |
ClinGen gnomAD |
|
|
rs1304254255 CA373631827 |
43 | Q>P | No |
ClinGen TOPMed |
|
|
rs747798588 CA5075317 |
44 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA373631813 rs1411434568 |
45 | Q>* | No |
ClinGen gnomAD |
|
|
rs913602562 CA194001767 |
45 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA373631808 rs1312031661 |
46 | H>N | No |
ClinGen gnomAD |
|
|
rs372736325 CA5075315 |
47 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs989263261 CA194001766 |
47 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1234198229 CA373631791 |
48 | V>A | No |
ClinGen TOPMed |
|
|
CA5075313 rs746180268 |
50 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075309 rs749791119 |
52 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA194001765 rs564159274 |
53 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs564159274 CA194001764 |
53 | R>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs777762976 CA5075308 |
54 | G>W | No |
ClinGen ExAC |
|
|
CA5075307 rs374824691 |
55 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5075306 rs752893979 |
55 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075305 rs767728658 |
57 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs149995729 CA373631732 |
58 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410822783 CA373631738 |
58 | E>K | No |
ClinGen TOPMed |
|
|
rs961067709 CA373631716 |
61 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs961067709 CA194001761 |
61 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1373229719 CA373631700 |
63 | Q>H | No |
ClinGen TOPMed |
|
|
rs1326894743 CA373631703 |
63 | Q>P | No |
ClinGen TOPMed |
|
|
CA373631691 rs1342214134 |
65 | G>R | No |
ClinGen gnomAD |
|
|
CA373631683 rs1430980898 |
66 | Q>P | No |
ClinGen gnomAD |
|
|
rs1361202301 CA373631651 |
70 | E>A | No |
ClinGen TOPMed |
|
|
CA373631643 rs1157007488 |
71 | R>H | No |
ClinGen gnomAD |
|
|
rs766154789 CA5075302 |
72 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766154789 CA373631637 |
72 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412924099 CA373631631 |
73 | E>G | No |
ClinGen gnomAD |
|
|
rs111299164 CA194001759 |
75 | L>Q | No |
ClinGen Ensembl |
|
|
CA373631607 rs1239727497 |
77 | R>C | No |
ClinGen gnomAD |
|
|
rs866015040 CA194001758 |
79 | A>V | No |
ClinGen Ensembl |
|
|
CA194001757 rs961904277 |
80 | S>G | No |
ClinGen Ensembl |
|
|
CA373631590 rs1446913023 |
80 | S>I | No |
ClinGen gnomAD |
|
|
rs750346698 CA5075300 |
81 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631581 rs1212625962 |
81 | T>M | No |
ClinGen TOPMed |
|
|
CA5075298 rs761341201 |
82 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1231235984 CA373631570 |
83 | S>N | No |
ClinGen gnomAD |
|
|
rs768357925 CA5075296 |
83 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768357925 CA373631567 |
83 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs760399366 CA5075295 |
84 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373631524 rs1226666906 |
89 | T>M | No |
ClinGen gnomAD |
|
|
CA373631523 rs1324589585 |
90 | D>N | No |
ClinGen gnomAD |
|
|
CA373631514 rs1437307897 |
91 | T>A | No |
ClinGen gnomAD |
|
|
rs1325394247 CA373631509 |
92 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774916587 CA5075294 |
94 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA373631485 rs1164174118 |
95 | D>V | No |
ClinGen gnomAD |
|
|
CA373631481 rs771401564 |
96 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5075293 rs771401564 |
96 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA373631469 rs1189959641 |
98 | A>P | No |
ClinGen gnomAD |
|
|
CA5075292 rs749798879 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs200566474 CA5075291 |
99 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219008528 CA373631460 |
100 | A>T | No |
ClinGen gnomAD |
|
|
rs1472102637 CA373631457 |
100 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769786634 CA5075290 |
101 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631453 rs769786634 |
101 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631449 rs1290379474 |
102 | D>N | No |
ClinGen gnomAD |
|
|
rs748200600 CA5075289 |
103 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781394053 CA5075288 |
105 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631420 rs1230704618 |
106 | A>T | No |
ClinGen gnomAD |
|
|
CA194001751 rs1012439301 |
109 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA373631398 rs1012439301 |
109 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1012439301 COSM1109737 CA373631397 |
109 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs751764564 CA5075286 |
110 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631376 rs1249385750 |
112 | P>L | No |
ClinGen gnomAD |
|
|
rs1050385558 CA194001749 |
113 | E>K | No |
ClinGen TOPMed |
|
|
rs765169187 CA373631364 |
114 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189112664 CA373631366 |
114 | D>G | No |
ClinGen TOPMed |
|
|
rs750353332 CA5075284 |
114 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5075283 rs750353332 |
114 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373631361 rs761237412 |
115 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753456595 CA5075280 |
115 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5075281 rs761237412 |
115 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631362 rs761237412 |
115 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763685239 CA5075279 |
116 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs147622536 CA5075278 |
116 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373631351 rs147622536 |
116 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478823979 CA373631350 |
117 | A>T | No |
ClinGen gnomAD |
|
|
rs1402557230 CA373631336 |
119 | A>T | No |
ClinGen TOPMed |
|
|
rs1246879486 CA373631326 |
120 | V>A | No |
ClinGen gnomAD |
|
|
CA5075276 rs771450823 |
122 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763326988 CA5075275 |
123 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631308 rs1205854370 |
123 | R>W | No |
ClinGen gnomAD |
|
|
rs770266386 CA5075273 |
124 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1313255393 CA373631284 |
127 | E>K | No |
ClinGen TOPMed |
|
|
CA373631285 rs1313255393 |
127 | E>Q | No |
ClinGen TOPMed |
|
|
CA194001747 rs1041955259 |
128 | E>D | No |
ClinGen Ensembl |
|
|
rs748594161 CA5075272 |
128 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1275599927 CA373631259 |
130 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA373631255 rs1207407618 |
131 | E>G | No |
ClinGen gnomAD |
|
|
CA373631257 rs1236876189 |
131 | E>Q | No |
ClinGen gnomAD |
|
|
rs1430995132 CA373631225 |
135 | A>V | No |
ClinGen gnomAD |
|
|
CA5075268 rs369791049 |
136 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA194001746 rs866978596 |
138 | A>T | No |
ClinGen gnomAD |
|
|
rs1425436647 CA373631203 |
138 | A>V | No |
ClinGen gnomAD |
|
|
CA5075265 rs372055954 |
139 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA194001745 rs757278417 |
141 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs371888254 CA373631188 |
141 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5075264 rs757278417 |
141 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs371888254 CA194001744 |
141 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5075262 rs763738768 |
142 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631184 rs1227435953 |
142 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA373631177 rs1181310421 |
143 | R>C | No |
ClinGen TOPMed |
|
|
CA373631175 rs1327466523 |
143 | R>H | No |
ClinGen gnomAD |
|
|
rs767220848 CA5075260 |
144 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767220848 CA5075261 |
144 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767220848 CA5075259 |
144 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228072554 CA373631166 |
145 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373631170 rs1279410417 |
145 | A>T | No |
ClinGen gnomAD |
|
|
CA373631162 rs1564063472 |
146 | L>P | No |
ClinGen Ensembl |
|
|
rs773689213 CA373631149 |
148 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1410770108 CA373631148 |
148 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs773689213 CA5075257 |
148 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs765502978 CA5075256 |
149 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA194001743 rs926398593 |
151 | H>P | No |
ClinGen gnomAD |
|
|
CA5075255 rs762428079 |
152 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768748343 CA5075253 |
153 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777088552 CA5075254 |
153 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373631110 rs1327690864 |
154 | S>W | No |
ClinGen TOPMed |
|
|
CA373631108 rs1159656290 |
155 | L>M | No |
ClinGen gnomAD |
|
|
rs372677160 CA5075251 |
156 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373631097 rs372677160 |
156 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5075250 rs772408859 |
157 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1411537676 CA373631093 |
157 | H>R | No |
ClinGen gnomAD |
|
|
CA373631087 rs1483526507 |
158 | E>* | No |
ClinGen gnomAD |
|
|
CA5075248 rs778817438 |
160 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200526399 CA5075246 |
161 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373631065 rs1270186775 |
161 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1270186775 CA373631066 |
161 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5075247 rs200526399 |
161 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373631050 rs1229401278 |
163 | A>V | No |
ClinGen gnomAD |
|
|
CA5075243 rs752188303 |
165 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA373631041 rs1230579463 |
165 | Y>N | No |
ClinGen gnomAD |
|
|
CA194001741 rs1006508141 |
167 | G>D | No |
ClinGen gnomAD |
|
|
CA373631027 rs1319336632 |
167 | G>R | No |
ClinGen gnomAD |
|
|
rs766927822 CA5075242 |
170 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs754713543 CA373630998 |
171 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs754713543 CA5075241 |
171 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs765672535 CA5075239 |
172 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373630995 rs1337780893 |
172 | H>Y | No |
ClinGen TOPMed |
|
|
rs762119662 CA5075238 |
173 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA373630985 rs1188021889 |
174 | L>V | No |
ClinGen gnomAD |
|
|
CA373630973 rs1588335009 |
175 | F>L | No |
ClinGen Ensembl |
|
|
CA373630967 rs1447664835 |
176 | H>R | No |
ClinGen gnomAD |
|
|
COSM2778963 CA194001740 rs953482604 |
177 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5075237 rs777139512 |
178 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1488264997 CA373630959 |
178 | G>S | No |
ClinGen gnomAD |
|
|
rs1041924119 CA194001738 |
181 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1297433992 CA373630937 |
181 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA194001737 rs1010475504 |
183 | Y>C | No |
ClinGen Ensembl |
|
|
rs34788368 VAR_050664 CA5075233 |
184 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
CA5075231 rs772023961 |
185 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1297670942 CA373630913 |
185 | E>K | No |
ClinGen gnomAD |
|
|
rs147791053 CA5075228 |
189 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373630869 rs1167095547 |
191 | G>C | No |
ClinGen TOPMed |
|
|
rs1166715096 CA373630863 |
192 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756187062 CA5075225 |
193 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5075224 rs748081357 |
195 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1180050695 CA373630836 |
196 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373630833 rs1432852208 |
196 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1180050695 CA373630835 |
196 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373630828 rs1193295852 |
197 | V>A | No |
ClinGen gnomAD |
|
|
CA373630830 rs780799579 |
197 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075223 rs780799579 |
197 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373630831 rs780799579 |
197 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA194001736 rs939757240 |
199 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373630805 rs1237573458 |
200 | E>D | No |
ClinGen gnomAD |
|
|
CA373630799 rs1203699878 |
201 | I>R | No |
ClinGen gnomAD |
|
|
rs1344901502 CA373630796 |
202 | G>R | No |
ClinGen gnomAD |
|
|
rs1274778983 CA373630790 |
203 | D>N | No |
ClinGen gnomAD |
|
|
CA5075220 rs779518539 |
204 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA194001735 rs1054626259 |
204 | A>V | No |
ClinGen Ensembl |
|
|
rs1386989074 CA373630773 COSM225890 |
205 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs761219932 CA5075216 |
207 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767668990 CA5075214 |
208 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs759487953 CA373630747 |
210 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759487953 CA5075213 |
210 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770991599 CA5075211 |
211 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770991599 CA373630738 |
211 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376131745 CA373630740 |
211 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5075212 rs774645762 |
211 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373630742 rs774645762 |
211 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075209 rs773195114 |
212 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075210 rs763263675 |
212 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1373409407 CA373630730 |
213 | L>P | No |
ClinGen TOPMed |
|
|
CA373630728 rs1476283986 |
214 | R>G | No |
ClinGen TOPMed |
|
|
rs558915605 CA194001732 |
214 | R>Q | No |
ClinGen 1000Genomes |
|
|
rs748132892 CA5075207 |
215 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA373630713 rs1199394322 |
216 | Y>* | No |
ClinGen gnomAD |
|
|
CA373630715 rs1253092195 |
216 | Y>C | No |
ClinGen gnomAD |
|
|
rs372733797 CA5075206 |
217 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5075205 rs768227814 |
218 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA373630687 rs1328010761 |
220 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1393295144 CA373630686 |
220 | R>H | No |
ClinGen TOPMed |
|
|
CA373630676 rs1411377048 |
221 | D>E | No |
ClinGen gnomAD |
|
|
rs1286260724 CA373630681 |
221 | D>Y | No |
ClinGen gnomAD |
|
|
CA373630667 rs1333348539 |
223 | A>T | No |
ClinGen gnomAD |
|
|
rs746439936 CA5075204 |
223 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075202 rs758109185 |
224 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5075200 rs778151831 |
225 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1588334710 CA373630639 |
227 | R>L | No |
ClinGen Ensembl |
|
|
CA194001729 rs949007918 |
229 | E>K | No |
ClinGen Ensembl |
|
|
CA373630621 rs1473739039 |
230 | A>T | No |
ClinGen gnomAD |
|
|
CA373630601 rs1441171786 |
233 | A>V | No |
ClinGen gnomAD |
|
|
CA373630597 rs1464179023 |
234 | R>Q | No |
ClinGen gnomAD |
|
|
rs766553712 CA5075194 |
236 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991470810 CA194001728 |
237 | H>R | No |
ClinGen TOPMed |
|
|
rs1242573569 CA373630568 |
239 | D>N | No |
ClinGen gnomAD |
|
|
CA5075191 rs769740556 |
240 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1453398803 CA373630551 |
241 | R>C | No |
ClinGen gnomAD |
|
|
rs1453398803 CA373630553 |
241 | R>G | No |
ClinGen gnomAD |
|
|
rs374535246 CA5075190 |
241 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373630538 rs1588334603 |
243 | D>A | No |
ClinGen Ensembl |
|
|
CA373630537 rs1379920586 |
243 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5075188 rs768546904 |
243 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA373630533 rs1386196455 |
244 | G>C | No |
ClinGen gnomAD |
|
|
rs746956400 CA5075187 |
244 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA373630535 rs1386196455 |
244 | G>S | No |
ClinGen gnomAD |
|
|
CA373630530 COSM1314887 rs1370653772 |
245 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA373630521 rs1588334576 |
246 | S>P | No |
ClinGen Ensembl |
|
|
CA5075185 rs745552520 |
247 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs745552520 CA5075184 |
247 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA373630482 rs1185512315 |
251 | K>N | No |
ClinGen TOPMed |
|
|
CA373630477 rs1207796925 |
252 | E>A | No |
ClinGen gnomAD |
|
|
rs1358402094 CA373630472 |
253 | A>T | No |
ClinGen gnomAD |
|
|
COSM2155190 rs199962660 CA194001725 |
256 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1437600830 CA373630430 |
259 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs149667958 CA194001724 |
259 | P>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA373630429 rs1437600830 |
259 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373630431 rs1437600830 |
259 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373630426 rs1323334260 |
260 | R>C | No |
ClinGen gnomAD |
|
|
rs755495955 CA5075179 |
261 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA373630419 rs1403896108 |
261 | M>V | No |
ClinGen gnomAD |
|
|
rs1164847500 CA373630402 |
263 | S>C | No |
ClinGen gnomAD |
|
|
rs150929571 CA5075177 |
265 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475551388 COSM754346 CA373630376 |
266 | Q>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1475551388 CA373630378 |
266 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5075175 rs750695607 |
267 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373630365 rs1196489178 |
268 | E>K | No |
ClinGen gnomAD |
|
|
rs1292218177 CA373630343 |
271 | D>H | No |
ClinGen gnomAD |
|
|
rs1292218177 CA373630342 COSM1109734 |
271 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA194001723 rs868663409 |
272 | Q>H | No |
ClinGen Ensembl |
|
|
rs1204413278 CA373630331 |
272 | Q>R | No |
ClinGen gnomAD |
|
|
CA5075173 rs372399092 |
273 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373630312 rs1230636691 |
275 | A>G | No |
ClinGen gnomAD |
|
|
CA373630316 rs1272610058 |
275 | A>T | No |
ClinGen gnomAD |
|
|
rs1230636691 CA373630311 |
275 | A>V | No |
ClinGen gnomAD |
|
|
rs576517279 CA194001721 |
279 | Q>E | No |
ClinGen 1000Genomes |
|
|
CA194001720 rs557093832 |
280 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5075169 rs535512947 |
280 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373630224 rs1170512031 |
287 | D>E | No |
ClinGen gnomAD |
|
|
CA373630214 rs1478795959 |
289 | A>T | No |
ClinGen gnomAD |
|
|
CA5075165 rs771596164 |
290 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs773994036 CA5075163 |
291 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs770552525 CA5075162 |
292 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1049701183 CA194001719 |
293 | M>I | No |
ClinGen TOPMed |
|
|
CA373630188 rs1206717836 |
293 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1183164 CA373630167 rs1588334341 |
296 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA373630159 rs1277984386 |
297 | E>K | No |
ClinGen gnomAD |
|
|
CA5075159 rs755337925 |
298 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA373630142 rs1205355914 |
299 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373630144 rs1284360757 |
299 | D>Y | No |
ClinGen gnomAD |
|
|
rs1443545402 CA373630122 |
302 | R>H | No |
ClinGen gnomAD |
|
|
rs780657313 CA5075157 |
303 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075158 rs780657313 |
303 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373630099 rs1429490256 |
306 | P>L | No |
ClinGen gnomAD |
|
|
rs1429490256 CA373630101 |
306 | P>R | No |
ClinGen gnomAD |
|
|
CA194001718 rs36065434 |
306 | P>S | No |
ClinGen Ensembl |
|
|
rs754059877 CA5075153 |
308 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754059877 CA373630092 |
308 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754059877 CA5075152 |
308 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075149 rs775422671 |
309 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775422671 CA5075150 |
309 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA373630081 rs1237016932 |
310 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1237016932 CA373630079 |
310 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5075148 rs767378055 |
311 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773906297 CA5075146 |
312 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208342136 CA373630061 |
313 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1327598965 CA373630060 |
313 | S>R | No |
ClinGen gnomAD |
|
|
rs748933345 CA5075145 |
315 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5075144 rs748933345 |
315 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1379035681 CA373630037 |
317 | Q>H | No |
ClinGen gnomAD |
|
|
CA373630033 rs1281948736 |
318 | A>S | No |
ClinGen gnomAD |
|
|
rs768923261 CA5075142 |
319 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758915812 CA373630020 |
320 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA373630024 rs1348242037 |
320 | A>P | No |
ClinGen TOPMed |
|
|
rs758915812 CA194001717 |
320 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373630015 rs1367456773 |
321 | G>A | No |
ClinGen gnomAD |
|
|
rs1319549305 CA373630009 |
322 | Q>R | No |
ClinGen gnomAD |
|
|
CA373630001 rs1455301790 |
323 | Q>R | No |
ClinGen gnomAD |
|
|
rs747317258 CA5075141 |
324 | R>W | No |
ClinGen ExAC |
|
|
CA373629989 rs1298557641 |
325 | A>V | No |
ClinGen gnomAD |
|
|
rs746356370 CA5075138 |
326 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075139 rs772765411 |
326 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075136 rs757323730 |
328 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA373629973 rs757323730 |
328 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA373629972 rs1193519001 |
329 | A>T | No |
ClinGen TOPMed |
|
|
rs754033623 CA5075135 |
329 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075132 rs752553631 |
332 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759515322 CA5075130 |
333 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291544423 CA373629933 |
335 | G>A | No |
ClinGen gnomAD |
|
|
CA373629924 rs915558461 |
336 | Q>H | No |
ClinGen TOPMed |
|
|
rs1440266215 CA373629928 |
336 | Q>P | No |
ClinGen TOPMed |
|
|
CA194001715 rs750949378 |
337 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA373629922 rs750949378 |
337 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs750949378 CA5075127 |
337 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201072152 CA5075128 COSM1109733 |
337 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA5075126 rs772752486 |
339 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs769419470 CA5075125 |
341 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs761546408 CA5075124 |
343 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373629883 rs761546408 |
343 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776047651 CA5075123 |
344 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs992466775 CA194001714 |
345 | A>T | No |
ClinGen TOPMed |
|
|
CA373629866 rs1385987983 |
346 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1564062638 CA373629854 COSM226652 |
347 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs770932706 CA5075119 |
349 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5075116 rs756383011 |
356 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752891167 CA5075115 |
357 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588334004 CA373629768 |
360 | V>G | No |
ClinGen Ensembl |
|
|
CA5075114 rs781002116 |
360 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs368633714 CA194001713 |
361 | K>I | No |
ClinGen Ensembl |
|
|
rs1308905549 CA373629755 |
362 | T>N | No |
ClinGen gnomAD |
|
|
rs751518725 CA5075112 |
363 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365288548 CA373629744 |
364 | T>S | No |
ClinGen gnomAD |
|
|
rs762371853 CA5075110 COSM1109732 |
366 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750009546 CA5075109 |
366 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA194001711 rs201762976 |
370 | T>A | No |
ClinGen 1000Genomes |
|
|
CA5075108 rs764631552 |
371 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs776382510 CA5075106 |
372 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA373629699 rs1374858591 COSM1109729 |
372 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5075105 COSM1183162 rs772591680 |
373 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373629692 rs772591680 |
373 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373629683 rs1423555549 |
374 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759925202 CA5075104 |
375 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251653171 CA373629664 |
377 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5075101 rs749743607 |
380 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs773386871 CA5075100 |
384 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781342981 CA5075097 |
389 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs754781120 CA5075096 |
391 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA373629564 rs1349806147 |
391 | C>Y | No |
ClinGen gnomAD |
|
|
CA5075094 rs375520741 |
392 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5075095 rs144261581 |
392 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5075092 COSM1490087 rs750298305 |
393 | D>Y | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs199869388 CA5075091 |
394 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5075090 rs756779658 |
394 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371819910 CA5075088 |
396 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371819910 CA5075087 |
396 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367576452 CA5075085 |
397 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769881277 CA5075083 |
400 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs763553462 CA373629507 |
400 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075084 rs763553462 |
400 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771914317 CA5075057 |
402 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs745585939 CA5075056 |
402 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5075052 rs149565037 |
404 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5075053 rs149565037 |
404 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5075051 rs755537357 |
406 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1386598059 CA373629459 |
406 | S>T | No |
ClinGen gnomAD |
|
|
rs1197003426 CA373629451 |
407 | S>F | No |
ClinGen TOPMed |
|
|
rs752412330 CA5075050 |
408 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373629442 rs138179284 |
409 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138179284 CA5075047 |
409 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5075048 rs138179284 |
409 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA193997918 rs1027229454 |
413 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5075045 rs201849958 |
414 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA193997917 rs776858960 |
414 | S>T | No |
ClinGen gnomAD |
|
|
CA5075043 rs150818997 |
416 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143767519 CA5075042 |
416 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373629399 rs1400753053 |
417 | T>P | No |
ClinGen TOPMed |
|
|
rs775789110 CA5075041 |
418 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs772254743 CA373629376 |
420 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5075039 rs759793649 |
421 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA373629374 rs1323269260 |
421 | P>T | No |
ClinGen gnomAD |
|
|
CA5075038 rs774340272 |
424 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553516051 CA193997916 |
425 | V>E | No |
ClinGen Ensembl |
|
|
CA5075037 rs770815088 |
426 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA193997915 rs760771546 COSM1183160 |
427 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs777800603 CA5075035 |
429 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1475520273 CA373629319 |
430 | N>D | No |
ClinGen gnomAD |
|
|
rs769356071 CA5075034 |
431 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA193997914 rs906284777 |
431 | K>N | No |
ClinGen TOPMed |
|
|
CA5075021 rs767615880 |
433 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1481335256 CA373629225 |
441 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1481335256 CA373629227 |
441 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199523531 CA5075020 |
442 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5075019 rs774671640 |
442 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA373629209 rs1206651875 |
444 | V>A | No |
ClinGen gnomAD |
|
|
rs762774491 CA5075017 |
444 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074999 rs763262016 |
446 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs927880124 CA193997129 |
447 | P>L | No |
ClinGen TOPMed |
|
|
CA193997128 rs1046302952 |
450 | C>Y | No |
ClinGen Ensembl |
|
|
CA5074995 rs776584086 |
451 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074994 rs565278828 |
452 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5074992 rs767054560 |
453 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373629113 rs1478962737 |
457 | D>G | No |
ClinGen TOPMed |
|
|
rs375886101 CA5074989 |
457 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA193997126 rs942092604 |
460 | I>T | No |
ClinGen Ensembl |
|
|
CA5074987 rs561593212 |
463 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781678474 CA373629067 |
464 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781678474 CA5074986 |
464 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364823893 CA373629056 |
466 | L>I | No |
ClinGen gnomAD |
|
|
CA373629053 rs1351596436 |
466 | L>R | No |
ClinGen TOPMed |
|
|
rs1046441623 CA193997125 |
467 | G>D | No |
ClinGen TOPMed |
|
|
CA5074984 rs751753425 |
468 | S>P | No |
ClinGen ExAC |
|
|
CA193997123 rs765921283 |
473 | S>L | No |
ClinGen Ensembl |
|
|
CA373628998 rs1564042945 |
475 | K>R | No |
ClinGen Ensembl |
|
|
CA5074982 rs758740930 |
476 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA373628979 rs1377754516 |
478 | S>C | No |
ClinGen TOPMed |
|
|
CA5074979 rs761612591 |
481 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs764965802 CA5074980 |
481 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753725669 CA5074978 |
482 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5074977 rs367760423 |
482 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373628932 rs367760423 |
482 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373628934 rs367760423 |
482 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775033552 CA5074975 |
483 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5074976 rs760596363 |
483 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5074973 rs759146317 |
484 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771543344 CA5074974 |
484 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs774002981 CA5074972 |
488 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5074970 rs748476429 |
490 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781402914 CA5074969 |
491 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422137137 CA373628760 |
491 | S>R | No |
ClinGen gnomAD |
|
|
CA373628741 rs1187418054 |
493 | I>F | No |
ClinGen gnomAD |
|
|
rs1198114917 CA373543364 |
495 | M>V | No |
ClinGen TOPMed |
|
|
rs749443155 CA5074941 |
496 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA373543335 rs1404412890 |
497 | Q>* | No |
ClinGen gnomAD |
|
|
rs1178982918 CA373543296 |
499 | L>F | No |
ClinGen gnomAD |
|
|
rs777580457 CA5074940 |
502 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755857636 CA373543259 |
503 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762770097 CA5074937 |
504 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA193436883 rs770798820 |
505 | K>E | No |
ClinGen Ensembl |
|
|
CA5074936 rs754863784 |
505 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373543174 rs1286854669 |
506 | A>P | No |
ClinGen gnomAD |
|
|
CA5074918 rs575873204 |
507 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765943132 CA5074916 |
510 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074915 rs143102395 |
511 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750113226 CA5074914 |
512 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316633140 CA373543119 |
514 | M>I | No |
ClinGen gnomAD |
|
|
rs1281720946 CA373543122 |
514 | M>T | No |
ClinGen TOPMed |
|
|
CA5074913 rs765051126 |
516 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373543097 rs1422279942 |
517 | V>G | No |
ClinGen gnomAD |
|
|
CA373543044 rs767745301 |
525 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA5074910 rs767745301 |
525 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1265216293 CA373543018 |
528 | V>L | No |
ClinGen TOPMed |
|
|
CA5074908 rs774675232 |
531 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373542964 rs1220141818 |
532 | D>E | No |
ClinGen gnomAD |
|
|
rs773272131 CA5074905 |
532 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5074906 rs749295663 |
532 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA373542939 rs1292077990 |
534 | Q>L | No |
ClinGen gnomAD |
|
|
rs943098373 CA193435398 |
535 | E>K | No |
ClinGen TOPMed |
|
|
CA373542822 rs1330531892 |
537 | M>T | No |
ClinGen gnomAD |
|
|
rs143979575 CA5074886 |
537 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987706331 CA193435388 |
538 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1405119314 CA373542796 |
538 | M>T | No |
ClinGen gnomAD |
|
|
rs202066084 CA5074884 |
541 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768508523 CA5074883 |
541 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1180793515 CA373542722 |
543 | R>K | No |
ClinGen gnomAD |
|
|
rs745770993 CA5074879 |
544 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242946635 CA373542702 |
545 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs371943178 CA5074878 |
548 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375286686 CA193435365 |
548 | I>V | No |
ClinGen ESP gnomAD |
|
|
CA193435356 rs746177560 |
552 | G>R | No |
ClinGen Ensembl |
|
|
rs368416881 CA193435350 |
555 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1447086565 CA373542568 |
555 | V>I | No |
ClinGen gnomAD |
|
|
CA373542567 rs1447086565 |
555 | V>L | No |
ClinGen gnomAD |
|
|
rs755783658 CA5074874 |
556 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs766705353 CA5074872 |
560 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs766705353 CA5074873 |
560 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs374176608 CA5074871 |
560 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5074868 rs370688256 |
561 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199844166 CA5074869 |
561 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535189113 CA373542157 |
562 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5074866 rs535189113 |
562 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440567010 CA373542159 |
562 | R>W | No |
ClinGen gnomAD |
|
|
rs760930916 CA5074865 |
564 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA373542127 rs1246412903 |
564 | P>S | No |
ClinGen gnomAD |
|
|
COSM1701112 CA5074864 rs572878528 |
565 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5074863 rs771955316 |
565 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074862 rs557817337 |
566 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557817337 CA373542098 |
566 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1287555252 CA373542091 |
567 | N>D | No |
ClinGen gnomAD |
|
|
rs955469535 CA193435246 |
569 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373542043 rs1370786130 |
571 | N>D | No |
ClinGen TOPMed |
|
|
rs201954883 CA5074859 |
572 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777319156 CA373541981 |
574 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777319156 CA5074858 |
574 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373541963 rs1428581849 |
576 | H>N | No |
ClinGen gnomAD |
|
|
CA5074855 rs780425686 |
577 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA373541924 rs1420457440 |
578 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5074854 rs758711760 |
579 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA373541895 rs1425739961 |
580 | D>A | No |
ClinGen gnomAD |
|
|
CA373541889 rs1415003843 |
580 | D>E | No |
ClinGen gnomAD |
|
|
rs1161946793 CA373541899 |
580 | D>Y | No |
ClinGen gnomAD |
|
|
rs1001131971 CA193435189 |
581 | G>E | No |
ClinGen TOPMed |
|
|
CA373541886 rs1186233276 |
581 | G>R | No |
ClinGen gnomAD |
|
|
CA373541849 rs1237294624 |
583 | R>S | No |
ClinGen TOPMed |
|
|
CA193435171 rs765665436 |
584 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757777831 CA373541822 |
585 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039090608 CA193435165 |
585 | Y>D | No |
ClinGen TOPMed |
|
|
CA5074851 rs757777831 |
585 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA193435152 rs1035203109 |
591 | V>A | No |
ClinGen gnomAD |
|
|
rs751164226 CA5074848 |
591 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774287316 CA373541684 |
593 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs774287316 CA5074844 |
593 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5074846 rs769295451 |
593 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5074845 rs759341933 |
593 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA373541022 rs1409771910 |
598 | Q>E | No |
ClinGen gnomAD |
|
|
rs1442168155 CA373541016 |
598 | Q>R | No |
ClinGen TOPMed |
|
|
CA5074827 rs767922446 |
605 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373540882 rs1009178521 |
609 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759823383 CA5074826 |
610 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA193431947 rs865880290 |
611 | A>T | No |
ClinGen Ensembl |
|
|
rs1271024393 CA373540828 |
615 | F>L | No |
ClinGen TOPMed |
|
|
rs951156535 CA373540805 |
617 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1027159339 CA193431942 |
618 | A>T | No |
ClinGen TOPMed |
|
|
rs766164171 CA5074824 |
619 | N>S | No |
ClinGen ExAC |
|
|
rs868577679 CA193431932 |
621 | I>L | No |
ClinGen Ensembl |
|
|
rs995313835 CA193431931 |
622 | N>D | No |
ClinGen TOPMed |
|
|
COSM173542 CA5074821 rs769199164 |
624 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA193431914 rs201676704 |
626 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs776113631 CA5074819 |
633 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373540617 rs1175161016 |
633 | D>G | No |
ClinGen gnomAD |
|
|
CA373540622 rs1416801643 |
633 | D>N | No |
ClinGen TOPMed |
|
|
rs143800959 CA5074818 |
636 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746633514 CA5074817 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA193431839 rs779282599 |
642 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140108483 CA5074815 |
643 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5074814 rs749774649 |
646 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373540442 rs1564034211 |
647 | H>R | No |
ClinGen Ensembl |
|
|
CA5074813 rs778279509 |
647 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756578388 CA5074812 COSM1462773 |
651 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781395079 CA5074810 |
653 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373540280 rs1270804607 |
655 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755287991 CA5074809 |
656 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs764918995 CA5074785 |
660 | E>K | No |
ClinGen ExAC |
|
|
rs763605485 CA5074782 |
662 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA373539210 rs1246070780 |
665 | E>K | No |
ClinGen gnomAD |
|
|
rs368225294 CA5074780 |
667 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373539183 rs1402363395 |
668 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767254404 CA5074779 |
670 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA373539163 rs1384330593 |
671 | I>T | No |
ClinGen TOPMed |
|
|
CA373539123 rs1392356339 |
676 | W>* | No |
ClinGen gnomAD |
|
|
rs375234032 CA193429825 |
681 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA373539059 rs1284301956 |
683 | V>M | No |
ClinGen gnomAD |
|
|
CA5074774 rs777222533 |
687 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777222533 CA373539016 |
687 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747153797 CA5074772 |
688 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs371424083 CA193429797 |
689 | M>I | No |
ClinGen ESP |
|
|
CA5074771 rs779985443 COSM1109722 |
694 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746037136 CA5074769 |
697 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA193429769 rs905149200 |
700 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1025317865 CA193429753 |
701 | N>Y | No |
ClinGen Ensembl |
|
|
rs1241006703 CA373538826 |
704 | D>N | No |
ClinGen TOPMed |
|
|
CA5074766 rs753778142 |
707 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5074765 rs764083422 |
709 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373538741 rs1332309990 |
711 | G>R | No |
ClinGen gnomAD |
|
|
rs949370569 CA193429727 |
712 | T>A | No |
ClinGen TOPMed |
|
|
rs962644565 CA193429716 |
712 | T>I | No |
ClinGen Ensembl |
|
|
CA193429708 rs374466871 |
713 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs1398392609 CA373538715 |
713 | S>R | No |
ClinGen TOPMed |
|
|
CA5074763 rs199985605 |
716 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5074764 rs199985605 |
716 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199985605 CA193429703 |
716 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1170728461 CA373538665 |
720 | S>P | No |
ClinGen gnomAD |
|
|
rs773829845 CA5074760 |
721 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765713119 CA373538606 |
726 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765713119 CA5074759 |
726 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294750504 COSM171158 CA373536991 |
730 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs759598664 CA373536960 |
732 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074735 rs759598664 |
732 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074734 rs542801088 |
733 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371488516 CA5074732 |
734 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371488516 CA373536929 |
734 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373536925 rs777572294 |
734 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074731 rs777572294 |
734 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150664505 CA5074730 |
736 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5074729 rs748133420 |
738 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5074727 rs143924269 |
739 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5074728 rs369602668 |
739 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs545316442 CA373536813 |
740 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545316442 CA5074725 |
740 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373536762 rs1451727033 |
743 | P>S | No |
ClinGen TOPMed |
|
|
rs932260749 CA193423659 |
744 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1167169430 CA373536716 |
746 | T>I | No |
ClinGen TOPMed |
|
|
rs753100881 CA5074720 |
748 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752742845 CA193423650 |
749 | L>* | No |
ClinGen Ensembl |
|
|
rs767964752 CA5074719 |
749 | L>I | No |
ClinGen ExAC gnomAD |
|
|
COSM309193 CA5074718 rs760063607 |
750 | I>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA373536551 rs1287488708 |
754 | D>E | No |
ClinGen gnomAD |
|
|
CA373536557 rs1282465514 |
754 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs770954532 CA5074716 |
755 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs148530210 CA5074715 |
755 | L>R | No |
ClinGen ESP ExAC |
|
|
CA5074714 rs144687402 |
756 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375280475 CA5074713 |
756 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373536519 rs1564029820 |
757 | Y>H | No |
ClinGen Ensembl |
|
|
rs1228603430 CA373536489 |
758 | Q>E | No |
ClinGen TOPMed |
|
|
rs1229884712 CA373536455 |
758 | Q>H | No |
ClinGen gnomAD |
|
|
rs781030122 CA5074711 |
760 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs769138276 CA5074709 |
763 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074707 rs757923807 |
764 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5074706 rs750103291 |
765 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA5074705 rs778495671 |
765 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA373535055 rs1232401148 |
771 | L>F | No |
ClinGen gnomAD |
|
|
rs752069562 CA5074678 |
772 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766940707 CA5074677 |
773 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA193417848 rs903054674 |
774 | G>W | No |
ClinGen TOPMed |
|
|
CA373534990 rs1445102276 |
775 | G>A | No |
ClinGen gnomAD |
|
|
rs1330926261 CA373534996 |
775 | G>R | No |
ClinGen gnomAD |
|
|
rs758896028 CA5074676 |
776 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373534950 rs1207284751 |
779 | R>G | No |
ClinGen TOPMed |
|
|
rs1465948751 CA373534947 |
779 | R>K | No |
ClinGen gnomAD |
|
|
CA5074674 rs765330950 |
782 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454451021 CA373534904 |
783 | R>C | No |
ClinGen gnomAD |
|
|
CA5074672 rs776865087 |
783 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074673 rs776865087 |
783 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158442406 CA373534897 |
784 | V>M | No |
ClinGen TOPMed |
|
|
CA5074670 rs760613850 |
785 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs760200464 CA5074668 |
787 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA373534846 rs1482201940 |
787 | R>Q | No |
ClinGen gnomAD |
|
|
rs745766689 CA5074667 |
792 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947325202 CA193417750 |
793 | G>R | No |
ClinGen TOPMed |
|
|
rs1348665119 CA373534747 |
794 | Q>R | No |
ClinGen gnomAD |
|
|
CA5074665 rs770422025 |
796 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770422025 CA373534725 |
796 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5074663 rs777421578 |
797 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747434121 CA5074661 |
798 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs910507912 CA193417742 |
798 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1109721 rs747434121 CA5074662 |
798 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5074660 rs780376994 |
800 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA373534674 rs142971150 |
801 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373534680 rs1156489487 |
801 | H>Y | No |
ClinGen gnomAD |
|
|
CA5074657 rs750903494 |
802 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1462770 CA5074655 rs371567762 |
805 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs753857023 CA5074654 |
806 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373534605 rs1347690894 |
807 | I>V | No |
ClinGen TOPMed |
|
|
rs1212042848 CA373534593 |
808 | L>H | No |
ClinGen TOPMed |
|
|
CA373534588 rs1486064190 |
809 | S>P | No |
ClinGen gnomAD |
|
|
CA193417714 rs777405395 |
810 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1261682245 CA373534539 |
812 | V>A | No |
ClinGen gnomAD |
|
|
rs752916129 CA5074630 |
815 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs557875748 CA193416576 |
816 | H>D | No |
ClinGen gnomAD |
|
|
rs751864464 CA193416575 |
818 | K>N | No |
ClinGen Ensembl |
|
|
rs751311091 CA5074627 |
823 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476460860 CA373533970 |
823 | A>V | No |
ClinGen gnomAD |
|
|
CA373533958 rs1450023825 |
824 | M>I | No |
ClinGen gnomAD |
|
|
CA373533961 rs1198449843 |
824 | M>T | No |
ClinGen gnomAD |
|
|
CA373533939 rs1255285909 |
826 | R>W | No |
ClinGen gnomAD |
|
|
rs762780058 CA5074625 |
828 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373533904 rs1256767961 |
829 | T>M | No |
ClinGen gnomAD |
No associated diseases with Q02410
3 regional properties for Q02410
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PDZ domain | 656 - 743 | IPR001478-1 |
| domain | PDZ domain | 747 - 823 | IPR001478-2 |
| domain | PTB/PI domain | 456 - 643 | IPR006020 |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic active zone membrane | The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| amyloid-beta binding | Binding to an amyloid-beta peptide/protein. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| axo-dendritic transport | The directed movement of organelles or molecules along microtubules in neuron projections. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| gamma-aminobutyric acid secretion | The regulated release of gamma-aminobutyric acid by a cell or a tissue. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues. |
| glutamate secretion | The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| locomotory behavior | The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q99767 | APBA2 | Amyloid-beta A4 precursor protein-binding family A member 2 | Homo sapiens (Human) | SS |
| Q9H190 | SDCBP2 | Syntenin-2 | Homo sapiens (Human) | SS |
| O00560 | SDCBP | Syntenin-1 | Homo sapiens (Human) | EV |
| P98084 | Apba2 | Amyloid-beta A4 precursor protein-binding family A member 2 | Mus musculus (Mouse) | SS |
| B2RUJ5 | Apba1 | Amyloid-beta A4 precursor protein-binding family A member 1 | Mus musculus (Mouse) | SS |
| O35431 | Apba2 | Amyloid-beta A4 precursor protein-binding family A member 2 | Rattus norvegicus (Rat) | SS |
| O35430 | Apba1 | Amyloid-beta A4 precursor protein-binding family A member 1 | Rattus norvegicus (Rat) | EV |
| O17583 | lin-10 | Protein lin-10 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNHLEGSAEV | EVTDEAAGGE | VNESVEADLE | HPEVEEEQQQ | PPQQQHYVGR | HQRGRALEDL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RAQLGQEEEE | RGECLARSAS | TESGFHNHTD | TAEGDVIAAA | RDGYDAERAQ | DPEDESAYAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QYRPEAEEYT | EQAEAEHAEA | THRRALPNHL | HFHSLEHEEA | MNAAYSGYVY | THRLFHRGED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPYSEPYADY | GGLQEHVYEE | IGDAPELDAR | DGLRLYEQER | DEAAAYRQEA | LGARLHHYDE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RSDGESDSPE | KEAEFAPYPR | MDSYEQEEDI | DQIVAEVKQS | MSSQSLDKAA | EDMPEAEQDL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ERPPTPAGGR | PDSPGLQAPA | GQQRAVGPAG | GGEAGQRYSK | EKRDAISLAI | KDIKEAIEEV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KTRTIRSPYT | PDEPKEPIWV | MRQDISPTRD | CDDQRPMDGD | SPSPGSSSPL | GAESSSTSLH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PSDPVEASTN | KESRKSLASF | PTYVEVPGPC | DPEDLIDGII | FAANYLGSTQ | LLSDKTPSKN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VRMMQAQEAV | SRIKMAQKLA | KSRKKAPEGE | SQPMTEVDLF | ISTQRIKVLN | ADTQETMMDH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLRTISYIAD | IGNIVVLMAR | RRMPRSNSQE | NVEASHPSQD | GKRQYKMICH | VFESEDAQLI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AQSIGQAFSV | AYQEFLRANG | INPEDLSQKE | YSDLLNTQDM | YNDDLIHFSK | SENCKDVFIE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KQKGEILGVV | IVESGWGSIL | PTVIIANMMH | GGPAEKSGKL | NIGDQIMSIN | GTSLVGLPLS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TCQSIIKGLK | NQSRVKLNIV | RCPPVTTVLI | RRPDLRYQLG | FSVQNGIICS | LMRGGIAERG |
| 790 | 800 | 810 | 820 | 830 | |
| GVRVGHRIIE | INGQSVVATP | HEKIVHILSN | AVGEIHMKTM | PAAMYRLLTA | QEQPVYI |