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 A6NN90
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NN90-F1 | Predicted | AlphaFoldDB |
480 variants for A6NN90
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs944124173 CA50470944 |
2 | A>P | No |
ClinGen Ensembl |
|
|
CA50470941 rs912588307 |
3 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA50470938 rs542310418 |
4 | E>G | No |
ClinGen 1000Genomes TOPMed |
|
|
rs574944771 CA50470935 |
5 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1367790506 CA347338105 |
5 | G>V | No |
ClinGen TOPMed |
|
|
CA50470933 rs887048216 |
6 | S>L | No |
ClinGen TOPMed |
|
|
rs1427108443 CA347336621 |
7 | R>K | No |
ClinGen gnomAD |
|
|
CA347336610 rs1172782095 |
7 | R>S | No |
ClinGen gnomAD |
|
|
CA1722844 rs772749487 |
9 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1013460180 CA50468775 |
10 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1722843 rs771549736 |
10 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1722842 CA50468771 rs529534956 |
11 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347336560 rs1425359965 |
11 | D>V | No |
ClinGen TOPMed |
|
|
rs774010171 CA1722841 |
12 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347336548 rs1261786651 |
12 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1220945211 CA347336537 |
13 | G>E | No |
ClinGen gnomAD |
|
|
rs768377745 CA1722840 |
14 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1212305733 CA347336501 |
15 | T>N | No |
ClinGen gnomAD |
|
|
rs1041997789 CA50468764 |
16 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1451605672 CA347336476 |
17 | S>A | No |
ClinGen gnomAD |
|
|
CA1722838 rs779809572 |
18 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA347336442 rs1455494976 |
19 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA50468752 rs946411697 |
20 | E>Q | No |
ClinGen TOPMed |
|
|
rs1169760733 CA347336408 |
22 | V>G | No |
ClinGen gnomAD |
|
|
CA50468751 rs1023726243 |
22 | V>L | No |
ClinGen Ensembl |
|
|
CA50468747 rs1013174582 |
23 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA50468750 rs914925030 |
23 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA347336382 rs1218436129 |
25 | P>L | No |
ClinGen TOPMed |
|
|
CA1722836 rs371363222 |
25 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573212582 CA347336367 |
27 | V>E | No |
ClinGen Ensembl |
|
|
rs777899625 CA1722835 |
28 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1241638968 CA347336359 |
28 | P>S | No |
ClinGen gnomAD |
|
|
CA347336339 rs1251299503 |
30 | P>Q | No |
ClinGen gnomAD |
|
|
rs1481212213 CA347336340 |
30 | P>S | No |
ClinGen gnomAD |
|
|
CA347336318 rs1271434160 |
32 | V>L | No |
ClinGen TOPMed |
|
|
CA347336295 rs1453842865 |
34 | I>V | No |
ClinGen TOPMed |
|
|
CA1722834 rs367842772 |
35 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347336259 rs1311098995 |
37 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA347336255 rs1391776813 |
38 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA347336245 rs1395671649 |
39 | L>F | No |
ClinGen gnomAD |
|
|
CA347336235 rs1296453304 |
40 | S>G | No |
ClinGen gnomAD |
|
|
rs1460505987 CA347336222 |
41 | E>K | No |
ClinGen gnomAD |
|
|
rs1367471614 CA347336209 |
42 | A>T | No |
ClinGen gnomAD |
|
|
CA50468706 rs1035926118 |
43 | E>* | No |
ClinGen gnomAD |
|
|
CA1722832 rs779281457 |
43 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1035926118 CA347336201 |
43 | E>K | No |
ClinGen gnomAD |
|
|
CA1722830 rs754234523 |
44 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1722831 rs147887803 |
44 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534366697 CA1722829 |
46 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490990364 CA347336136 |
48 | T>R | No |
ClinGen gnomAD |
|
|
rs1015854698 CA50468687 |
49 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347336111 rs1558528415 |
51 | E>K | No |
ClinGen Ensembl |
|
|
CA347336109 rs1558528415 |
51 | E>Q | No |
ClinGen Ensembl |
|
|
rs1287792379 CA347336083 |
53 | G>S | No |
ClinGen gnomAD |
|
|
CA50468675 rs1005519323 |
54 | E>G | No |
ClinGen TOPMed |
|
|
CA1722827 rs61999261 |
55 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349183462 CA347336034 |
57 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1023413734 CA50468669 |
58 | G>A | No |
ClinGen TOPMed |
|
|
CA1722826 rs766998880 |
59 | D>E | No |
ClinGen ExAC |
|
|
rs1012992677 CA50468667 |
63 | D>N | No |
ClinGen TOPMed |
|
|
rs895903455 CA50468664 |
66 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA50468659 rs1034793832 |
67 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347335935 rs1219644475 |
68 | V>I | No |
ClinGen TOPMed |
|
|
rs1050871385 CA347335926 |
69 | M>K | No |
ClinGen gnomAD |
|
|
rs1050871385 CA50468656 |
69 | M>T | No |
ClinGen gnomAD |
|
|
rs1346072773 CA347335916 |
70 | D>V | No |
ClinGen gnomAD |
|
|
rs1264807058 CA347335912 |
71 | S>P | No |
ClinGen TOPMed |
|
|
CA1722823 rs575595663 |
72 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575595663 CA50468652 |
72 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575595663 CA1722824 |
72 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347335881 rs1363937256 |
76 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA347335877 rs1573212355 |
76 | Y>S | No |
ClinGen Ensembl |
|
|
rs1299594952 CA347335867 |
78 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1363535455 CA347335861 |
79 | Q>* | No |
ClinGen gnomAD |
|
|
CA347335831 rs1479159988 |
81 | C>Y | No |
ClinGen gnomAD |
|
|
CA347335827 rs1380981684 |
82 | I>L | No |
ClinGen TOPMed |
|
|
rs1243300246 CA347335823 |
82 | I>T | No |
ClinGen gnomAD |
|
|
rs1573212116 CA347335797 |
86 | I>N | No |
ClinGen Ensembl |
|
|
CA1722816 rs555628618 |
88 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772211027 CA1722815 |
89 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1453190506 CA347335778 |
89 | A>T | No |
ClinGen TOPMed |
|
|
CA347335773 rs1461634759 |
90 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347335771 rs1262408088 |
90 | R>P | No |
ClinGen gnomAD |
|
|
CA347335772 rs1461634759 |
90 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA347335767 rs1221558972 |
91 | E>K | No |
ClinGen gnomAD |
|
|
rs1341425057 CA347335752 |
93 | M>T | No |
ClinGen gnomAD |
|
|
rs940176726 CA50468565 |
93 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1722814 rs375582922 |
95 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347335732 rs1326062689 |
96 | I>N | No |
ClinGen gnomAD |
|
|
CA1722813 rs779226498 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs960389544 CA50468532 |
97 | T>P | No |
ClinGen Ensembl |
|
|
CA50468529 rs1025255280 |
98 | E>K | No |
ClinGen Ensembl |
|
|
rs1573211978 CA347335719 |
98 | E>V | No |
ClinGen Ensembl |
|
|
rs1407366506 CA347335704 |
100 | R>H | No |
ClinGen gnomAD |
|
|
CA347335705 rs1454891098 |
100 | R>S | No |
ClinGen gnomAD |
|
|
rs533973814 CA50468526 |
104 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1468635976 CA347335669 |
106 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1474819349 CA347335643 |
109 | S>F | No |
ClinGen gnomAD |
|
|
rs1335794264 CA347335646 |
109 | S>T | No |
ClinGen TOPMed |
|
|
CA347335641 rs1573211926 |
110 | A>T | No |
ClinGen Ensembl |
|
|
rs1237734119 CA347335635 |
111 | V>I | No |
ClinGen TOPMed |
|
|
CA50468524 rs61739330 |
114 | D>A | No |
ClinGen Ensembl |
|
|
CA347335606 rs1346694003 |
115 | P>S | No |
ClinGen TOPMed |
|
|
rs371075893 CA1722812 |
116 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242233692 CA347335593 |
117 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1459855469 CA347335570 |
120 | D>G | No |
ClinGen TOPMed |
|
|
CA347335564 rs1439438922 |
121 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1238744641 CA347335556 |
122 | E>* | No |
ClinGen TOPMed |
|
|
rs1273686051 CA347335550 |
123 | P>A | No |
ClinGen gnomAD |
|
|
rs1418525309 CA347335545 |
123 | P>L | No |
ClinGen TOPMed |
|
|
CA1722811 rs551474696 |
125 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50468509 rs1016851852 |
125 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347335533 rs1295654284 |
126 | C>R | No |
ClinGen gnomAD |
|
|
rs780453780 CA1722810 |
130 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1006361946 CA50468501 |
130 | S>P | No |
ClinGen Ensembl |
|
|
CA1722809 rs756449577 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1314743473 CA347335486 |
133 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1396431215 CA347335480 |
134 | G>S | No |
ClinGen TOPMed |
|
|
rs1055238 CA50468491 |
135 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1055238 CA50468488 |
135 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1722808 rs750878861 |
142 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1223726271 CA347335423 |
143 | T>I | No |
ClinGen TOPMed |
|
|
rs1282291093 CA347335420 |
144 | S>A | No |
ClinGen TOPMed |
|
|
rs1393620853 CA347335414 |
145 | E>K | No |
ClinGen gnomAD |
|
|
CA347335411 rs1402284592 |
145 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1444822510 CA347335408 |
146 | G>S | No |
ClinGen gnomAD |
|
|
rs1384247447 CA347335401 |
147 | L>M | No |
ClinGen gnomAD |
|
|
CA1722807 rs767944280 |
149 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA347335378 rs1471061291 |
150 | F>S | No |
ClinGen gnomAD |
|
|
rs1233379328 CA347335366 |
152 | G>S | No |
ClinGen gnomAD |
|
|
rs765024220 CA1722799 |
155 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765024220 CA347335134 |
155 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50468427 rs568553464 |
156 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1490553806 CA347335115 |
157 | G>D | No |
ClinGen gnomAD |
|
|
CA347335105 rs1360195649 |
158 | V>L | No |
ClinGen TOPMed |
|
|
rs550157849 CA50468415 |
160 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs759254846 CA1722797 |
160 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs529573479 CA347335063 |
162 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs529573479 CA347335061 |
162 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1722796 rs529573479 |
162 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347335046 rs1266960271 |
164 | G>R | No |
ClinGen TOPMed |
|
|
CA347335036 rs1558527921 |
165 | R>K | No |
ClinGen Ensembl |
|
|
CA347335022 rs1223600859 |
166 | S>* | No |
ClinGen gnomAD |
|
|
rs1223600859 CA347335019 |
166 | S>L | No |
ClinGen gnomAD |
|
|
rs916384762 CA50468402 |
169 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs916384762 CA347334985 |
169 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA50468404 rs947934380 |
169 | G>R | No |
ClinGen Ensembl |
|
|
CA1722794 rs746985748 |
172 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA347334959 rs1291297244 |
173 | Q>* | No |
ClinGen gnomAD |
|
|
rs1270953443 CA347334954 |
173 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1573211295 CA347334922 |
176 | M>V | No |
ClinGen Ensembl |
|
|
CA50468377 rs991902353 |
177 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs991902353 CA347334910 |
177 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1167485274 CA347334894 |
178 | S>C | No |
ClinGen TOPMed |
|
|
CA1722793 rs774571109 |
179 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431350082 CA347334844 |
183 | P>A | No |
ClinGen gnomAD |
|
|
rs768915558 CA1722792 |
183 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347334835 rs1480078158 |
184 | Q>K | No |
ClinGen gnomAD |
|
|
rs972338509 CA50468362 |
185 | L>R | No |
ClinGen Ensembl |
|
|
rs1424466933 CA347334817 |
186 | R>G | No |
ClinGen gnomAD |
|
|
CA347334790 rs1558527832 |
188 | T>R | No |
ClinGen Ensembl |
|
|
CA347334776 rs1573211206 |
190 | A>P | No |
ClinGen Ensembl |
|
|
CA1722791 rs749469641 |
190 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1016493171 CA50468355 |
191 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780147830 CA1722790 |
191 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA50468343 rs893727515 |
192 | P>R | No |
ClinGen TOPMed |
|
|
CA50468347 rs1010810749 |
192 | P>S | No |
ClinGen TOPMed |
|
|
CA347334754 rs1380335679 |
193 | P>T | No |
ClinGen TOPMed |
|
|
rs1314708728 CA347334729 |
195 | S>L | No |
ClinGen TOPMed |
|
|
rs756465511 CA1722789 |
196 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463873289 CA347334727 |
196 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA50468322 rs1006867050 |
198 | F>L | No |
ClinGen Ensembl |
|
|
CA347334105 rs1298503519 |
203 | P>T | No |
ClinGen gnomAD |
|
|
CA347334094 rs1362190541 |
204 | G>V | No |
ClinGen gnomAD |
|
|
CA50468310 rs932310217 |
205 | G>C | No |
ClinGen TOPMed |
|
|
rs1432622969 CA347334079 |
207 | V>A | No |
ClinGen gnomAD |
|
|
rs1407955623 CA347334076 |
208 | E>K | No |
ClinGen gnomAD |
|
|
CA347334052 rs1573211015 |
211 | D>A | No |
ClinGen Ensembl |
|
|
CA1722787 rs781588528 |
211 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50468280 rs564474116 |
212 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564474116 CA1722785 |
212 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347334029 rs1174014394 |
215 | R>G | No |
ClinGen gnomAD |
|
|
CA347333992 rs1430418632 |
218 | S>C | No |
ClinGen gnomAD |
|
|
CA347333994 rs1430418632 |
218 | S>F | No |
ClinGen gnomAD |
|
|
rs1444559835 CA347333984 |
219 | S>L | No |
ClinGen TOPMed |
|
|
rs371324343 CA1722783 |
221 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347333959 rs1447897995 |
222 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1447897995 CA347333961 |
222 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1245277112 CA347333953 |
222 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA347333945 rs1461249748 |
223 | L>S | No |
ClinGen gnomAD |
|
|
rs1254807750 CA347333928 |
224 | S>R | No |
ClinGen gnomAD |
|
|
CA1722782 rs752326490 |
225 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206006255 CA347333923 |
225 | A>S | No |
ClinGen gnomAD |
|
|
CA347333884 rs1225644657 |
228 | Q>R | No |
ClinGen gnomAD |
|
|
rs1451710083 CA347333872 |
229 | L>P | No |
ClinGen gnomAD |
|
|
CA50468240 rs546285579 |
229 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299882183 CA347333862 |
230 | S>L | No |
ClinGen gnomAD |
|
|
CA347333854 rs1379151631 |
231 | V>A | No |
ClinGen TOPMed |
|
|
rs1379151631 CA347333852 |
231 | V>E | No |
ClinGen TOPMed |
|
|
CA1722779 rs530860921 |
231 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs999506133 CA50468239 |
232 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347333850 rs1168040115 |
232 | E>K | No |
ClinGen gnomAD |
|
|
CA347333838 rs1428014975 |
233 | E>* | No |
ClinGen gnomAD |
|
|
CA347333836 rs1573210838 |
233 | E>G | No |
ClinGen Ensembl |
|
|
CA1722778 rs766344378 |
234 | A>G | No |
ClinGen ExAC |
|
|
rs1212597574 CA347333827 |
234 | A>T | No |
ClinGen TOPMed |
|
|
CA347333817 rs868117825 |
235 | P>A | No |
ClinGen gnomAD |
|
|
CA50468231 rs868117825 |
235 | P>S | No |
ClinGen gnomAD |
|
|
rs1273232349 CA347333788 |
237 | D>E | No |
ClinGen gnomAD |
|
|
CA1722777 rs760677424 |
237 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347333785 rs1202437137 |
238 | D>N | No |
ClinGen gnomAD |
|
|
CA347333760 rs1573210776 |
240 | D>A | No |
ClinGen Ensembl |
|
|
CA347333691 rs1292103140 |
246 | Y>* | No |
ClinGen gnomAD |
|
|
CA347333682 rs1573210761 |
247 | L>R | No |
ClinGen Ensembl |
|
|
CA1722776 rs773295891 |
247 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035693119 CA50468221 |
248 | V>L | No |
ClinGen TOPMed |
|
|
rs768790659 CA1722775 |
249 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347333646 rs762977392 |
251 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1722774 rs762977392 |
251 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307442094 CA347333639 |
252 | Q>K | No |
ClinGen gnomAD |
|
|
rs1469127491 CA347333620 |
253 | A>D | No |
ClinGen TOPMed |
|
|
rs1469127491 CA347333617 |
253 | A>V | No |
ClinGen TOPMed |
|
|
rs1408126368 CA347333613 |
254 | S>P | No |
ClinGen gnomAD |
|
|
CA1722773 rs542221789 |
255 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA50468213 rs542221789 |
255 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1722772 rs769887169 |
256 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367018045 CA347333589 |
257 | R>W | No |
ClinGen gnomAD |
|
|
rs1056186010 CA50468200 |
258 | G>R | No |
ClinGen Ensembl |
|
|
rs1573210649 CA347333565 |
259 | H>P | No |
ClinGen Ensembl |
|
|
CA347333543 rs1161776964 |
261 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1573210634 CA347333536 |
262 | G>S | No |
ClinGen Ensembl |
|
|
rs1251792481 CA347333504 |
264 | H>R | No |
ClinGen gnomAD |
|
|
CA347333509 rs1224542616 |
264 | H>Y | No |
ClinGen gnomAD |
|
|
rs1221136295 CA347333493 |
265 | L>W | No |
ClinGen TOPMed |
|
|
rs746144505 CA1722771 |
266 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1179347379 CA347333486 |
266 | S>P | No |
ClinGen gnomAD |
|
|
CA50468189 rs939111094 |
267 | L>W | No |
ClinGen Ensembl |
|
|
CA347333467 rs1558527529 |
268 | E>Q | No |
ClinGen Ensembl |
|
|
CA347333440 rs1208810381 |
270 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1323228918 CA347333428 |
271 | Y>C | No |
ClinGen TOPMed |
|
|
CA347333405 rs1222090439 |
273 | C>R | No |
ClinGen TOPMed |
|
|
rs1298325576 CA347333358 |
276 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs972828164 CA50468187 |
278 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA347333324 rs1316244495 |
279 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347333256 rs1327622776 |
284 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347333239 rs1573210472 |
285 | E>G | No |
ClinGen Ensembl |
|
|
CA347333249 rs1408069714 |
285 | E>K | No |
ClinGen gnomAD |
|
|
CA347333208 rs1303845649 CA347333207 |
287 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1722768 rs747454015 |
290 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056691476 CA50468166 |
291 | V>G | No |
ClinGen Ensembl |
|
|
CA347333186 rs1388876365 |
291 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA347333179 rs1454669964 |
292 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347333158 rs1573210389 |
295 | A>S | No |
ClinGen Ensembl |
|
|
rs1573210380 CA347333144 |
297 | G>D | No |
ClinGen Ensembl |
|
|
rs1403408434 CA347333125 |
300 | V>A | No |
ClinGen TOPMed |
|
|
rs1403408434 CA347333124 |
300 | V>G | No |
ClinGen TOPMed |
|
|
CA50468160 rs574016723 |
301 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs757885902 CA1722766 |
302 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778253953 CA1722767 |
302 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs757885902 CA50468151 |
302 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1722762 rs116859876 |
305 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50468129 rs116859876 |
305 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50468123 rs900833370 |
308 | A>D | No |
ClinGen TOPMed |
|
|
rs1041762758 CA50468127 |
308 | A>P | No |
ClinGen gnomAD |
|
|
CA347333085 rs1041762758 |
308 | A>T | No |
ClinGen gnomAD |
|
|
CA1722760 rs753604591 |
309 | T>P | No |
ClinGen ExAC |
|
|
rs555714037 CA50468105 |
310 | R>H | No |
ClinGen 1000Genomes |
|
|
rs1275463585 CA347333069 |
311 | P>S | No |
ClinGen gnomAD |
|
|
rs766219469 CA1722759 |
313 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766219469 CA347333059 |
313 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573210173 CA347333052 |
314 | S>A | No |
ClinGen Ensembl |
|
|
rs1383114408 CA347333049 |
314 | S>C | No |
ClinGen gnomAD |
|
|
rs1388288142 CA347333047 |
315 | C>G | No |
ClinGen gnomAD |
|
|
rs997652990 CA50468090 |
316 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs997652990 CA347333037 |
316 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1426565564 CA347333015 |
319 | R>Q | No |
ClinGen TOPMed |
|
|
rs1417324862 CA347333016 |
319 | R>W | No |
ClinGen TOPMed |
|
|
CA347332998 rs1407497844 |
322 | H>Y | No |
ClinGen gnomAD |
|
|
CA347332988 rs1171455906 |
323 | S>L | No |
ClinGen gnomAD |
|
|
rs533816628 CA347332986 |
324 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1722755 rs533816628 |
324 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422950496 CA347332977 |
325 | V>L | No |
ClinGen TOPMed |
|
|
rs767589050 CA1722754 |
326 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000002846 CA50468084 |
330 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA50468082 rs916115943 CA347332937 |
331 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347332943 rs1245923989 |
331 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1277880016 CA347332933 |
332 | H>P | No |
ClinGen gnomAD |
|
|
rs1461697072 CA347332934 |
332 | H>Y | No |
ClinGen gnomAD |
|
|
rs1247441961 CA347332923 CA347332922 |
333 | R>S | No |
ClinGen TOPMed |
|
|
rs1291858689 CA347332910 |
335 | R>C | No |
ClinGen TOPMed |
|
|
rs761862058 CA1722753 |
336 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA50468074 rs747813303 |
336 | R>L | No |
ClinGen Ensembl |
|
|
rs761862058 CA347332906 |
336 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1272010943 CA347332896 |
337 | K>N | No |
ClinGen gnomAD |
|
|
CA1722752 rs775405007 |
337 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022713487 CA50468059 |
338 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1364770301 CA347332891 |
338 | A>V | No |
ClinGen gnomAD |
|
|
rs1295792940 CA347332865 |
342 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs895031804 CA50468047 |
345 | P>S | No |
ClinGen gnomAD |
|
|
CA50468042 rs1056448205 |
346 | A>V | No |
ClinGen TOPMed |
|
|
rs1413283438 CA347332835 |
347 | R>S | No |
ClinGen gnomAD |
|
|
CA347332824 rs769980398 |
349 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1722751 rs769980398 |
349 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347332827 rs1397933172 |
349 | P>T | No |
ClinGen gnomAD |
|
|
CA347332817 rs1384652880 |
350 | C>* | No |
ClinGen TOPMed |
|
|
CA50468038 rs939163463 |
351 | H>Q | No |
ClinGen Ensembl |
|
|
rs1387992432 CA347332805 |
352 | W>* | No |
ClinGen gnomAD |
|
|
rs759661790 CA347332799 |
353 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1722750 rs759661790 |
353 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs767765722 CA50468026 |
354 | R>C | No |
ClinGen TOPMed |
|
|
rs1445088467 CA347332764 |
359 | V>I | No |
ClinGen gnomAD |
|
|
rs1193715605 CA347332743 |
362 | P>L | No |
ClinGen gnomAD |
|
|
rs1439496202 CA347332725 |
365 | Q>* | No |
ClinGen gnomAD |
|
|
CA347332727 rs1439496202 |
365 | Q>K | No |
ClinGen gnomAD |
|
|
rs776847377 CA1722749 |
365 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1400419849 CA347332709 |
367 | R>L | No |
ClinGen TOPMed |
|
|
rs1341691829 CA347332702 |
369 | L>M | No |
ClinGen gnomAD |
|
|
rs1357429399 CA347332686 |
371 | A>P | No |
ClinGen gnomAD |
|
|
rs771214248 CA1722748 |
373 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347332668 rs1338075597 |
374 | G>R | No |
ClinGen gnomAD |
|
|
rs1368314240 CA347332647 |
377 | R>W | No |
ClinGen gnomAD |
|
|
CA347332643 rs762292786 |
378 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762292786 CA1722746 |
378 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909590184 CA50467964 |
379 | E>D | No |
ClinGen TOPMed |
|
|
CA50467957 rs985492592 |
381 | T>N | No |
ClinGen Ensembl |
|
|
rs1233432311 CA347332610 |
383 | A>T | No |
ClinGen gnomAD |
|
|
rs1351840350 CA347332603 |
384 | R>Q | No |
ClinGen TOPMed |
|
|
CA50467954 rs932231186 |
384 | R>W | No |
ClinGen Ensembl |
|
|
CA50467949 rs914643686 |
385 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1482806669 CA347332582 |
387 | P>L | No |
ClinGen gnomAD |
|
|
rs1224923287 CA347332577 |
388 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347332568 rs1312314016 |
389 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1322590504 CA347332565 |
390 | L>F | No |
ClinGen gnomAD |
|
|
CA50467942 rs976268982 |
391 | G>C | No |
ClinGen Ensembl |
|
|
CA347332554 rs1289557903 |
392 | P>S | No |
ClinGen gnomAD |
|
|
CA347332548 rs1353431426 |
393 | G>S | No |
ClinGen gnomAD |
|
|
rs1289601896 CA347332542 |
394 | T>S | No |
ClinGen gnomAD |
|
|
rs1227231823 CA347332536 |
395 | R>C | No |
ClinGen gnomAD |
|
|
CA50467940 rs569182535 |
395 | R>H | No |
ClinGen gnomAD |
|
|
CA347332535 rs569182535 |
395 | R>P | No |
ClinGen gnomAD |
|
|
CA1722743 rs112958780 |
398 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304434889 CA347332517 |
398 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1304434889 CA347332519 |
398 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347332491 rs1321309123 |
402 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs754533234 CA1722742 |
402 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs968496907 CA50467929 |
403 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs978238889 CA50467931 |
403 | P>S | No |
ClinGen TOPMed |
|
|
CA347332483 rs1412612784 |
404 | L>F | No |
ClinGen gnomAD |
|
|
CA1722741 rs753475504 |
405 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369917940 CA1722740 |
406 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347332467 rs1325354595 |
407 | G>D | No |
ClinGen TOPMed |
|
|
rs1246387219 CA347332445 |
410 | F>L | No |
ClinGen gnomAD |
|
|
CA347332448 rs1488918942 |
410 | F>S | No |
ClinGen gnomAD |
|
|
CA50467912 rs1034923143 |
411 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1034923143 CA347332442 |
411 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1003403291 CA347332431 |
412 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1208575942 CA347332427 |
413 | L>S | No |
ClinGen gnomAD |
|
|
CA50467896 rs1019269683 |
415 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347332411 rs1019269683 |
415 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750225687 CA1722738 |
417 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs376887803 CA1722737 |
418 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1037270623 CA50467879 |
418 | A>V | No |
ClinGen gnomAD |
|
|
CA347332379 rs1389023338 |
421 | F>C | No |
ClinGen gnomAD |
|
|
rs113814620 CA347332376 |
422 | P>A | No |
ClinGen gnomAD |
|
|
rs113814620 CA50467852 |
422 | P>T | No |
ClinGen gnomAD |
|
|
rs1271351585 CA347332367 |
423 | T>S | No |
ClinGen TOPMed |
|
|
rs1424712295 CA347332327 |
429 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1048612530 CA50467835 |
430 | S>L | No |
ClinGen TOPMed |
|
|
CA1722735 rs751569316 |
431 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765170821 CA1722734 |
434 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775571856 CA50467801 |
434 | E>K | No |
ClinGen TOPMed |
|
|
rs775571856 CA50467790 |
434 | E>Q | No |
ClinGen TOPMed |
|
|
CA1722733 rs759613195 |
436 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs776791357 CA1722732 |
439 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1722731 rs766609532 |
440 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs550198703 CA50467768 |
441 | N>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1305731703 CA347332249 |
442 | S>C | No |
ClinGen TOPMed |
|
|
rs1365502887 CA347332216 |
444 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA347332212 rs1296574914 |
445 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA347332214 rs1296574914 |
445 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347332201 rs1282378245 |
446 | F>I | No |
ClinGen TOPMed |
|
|
rs372571894 CA50467750 |
447 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs1229484012 CA347332167 |
448 | T>I | No |
ClinGen TOPMed |
|
|
rs1384903284 CA347332152 |
449 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347332138 rs1303417190 |
450 | H>Q | No |
ClinGen gnomAD |
|
|
rs751934644 CA50467748 |
451 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1465498945 CA347332132 |
451 | P>S | No |
ClinGen gnomAD |
|
|
CA347332118 rs1294141002 |
452 | V>L | No |
ClinGen TOPMed |
|
|
CA1722728 rs772547116 |
456 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs748547145 CA1722727 |
457 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347332064 rs1431807769 |
457 | A>S | No |
ClinGen gnomAD |
|
|
CA50467737 rs924134320 |
458 | R>C | No |
ClinGen gnomAD |
|
|
CA347332054 rs1448116382 |
458 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1258853020 CA347332033 |
460 | R>C | No |
ClinGen gnomAD |
|
|
CA347332030 rs1194455420 |
460 | R>H | No |
ClinGen TOPMed |
|
|
CA50467729 rs528876710 |
461 | S>G | No |
ClinGen 1000Genomes |
|
|
CA347331997 rs1182889349 |
463 | K>T | No |
ClinGen gnomAD |
|
|
CA347331973 rs1483228355 |
465 | W>S | No |
ClinGen gnomAD |
|
|
rs567692769 CA1722726 |
466 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347331960 rs1235195673 |
466 | P>S | No |
ClinGen gnomAD |
|
|
rs978630025 CA50467656 |
472 | S>R | No |
ClinGen TOPMed |
|
|
CA1722725 rs768011727 |
472 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA347331871 rs1225886475 |
473 | G>D | No |
ClinGen gnomAD |
|
|
CA347331855 rs1313168454 |
474 | W>* | No |
ClinGen gnomAD |
|
|
CA347331857 rs1361262399 |
474 | W>* | No |
ClinGen gnomAD |
|
|
rs1313168454 CA347331853 |
474 | W>C | No |
ClinGen gnomAD |
|
|
CA50467641 rs1041661245 |
476 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs370088687 CA50467618 |
478 | A>V | No |
ClinGen gnomAD |
|
|
rs1376912540 CA347331806 |
479 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1411788149 CA347331776 |
481 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1411788149 CA347331775 |
481 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1558526728 CA347331767 |
482 | G>A | No |
ClinGen Ensembl |
|
|
CA50467599 rs547276069 |
483 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547276069 CA1722722 |
483 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50467587 rs990634838 |
486 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1722721 rs755799323 |
486 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932107208 CA50467582 |
488 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1423722479 CA347331701 |
488 | R>L | No |
ClinGen gnomAD |
|
|
CA347331706 rs932107208 |
488 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1183714739 CA347331685 |
490 | R>C | No |
ClinGen gnomAD |
|
|
CA1722718 rs369138816 |
490 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1722719 rs369138816 |
490 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1722717 rs375005972 |
491 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347331659 rs1489277076 |
492 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347331653 rs1265759000 |
493 | P>S | No |
ClinGen gnomAD |
|
|
CA1722716 rs751382530 |
495 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA50467530 rs915288359 |
497 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1019553119 CA50467526 |
502 | E>A | No |
ClinGen TOPMed |
|
|
rs1230284914 CA347331536 |
503 | G>D | No |
ClinGen gnomAD |
|
|
rs1351115982 CA347331531 |
504 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA347331514 rs1307503639 |
505 | D>H | No |
ClinGen gnomAD |
|
|
rs552490423 CA1722715 |
507 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347331446 rs1338655491 |
510 | P>R | No |
ClinGen TOPMed |
|
|
CA50467524 rs371872476 |
511 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs61999357 CA50467523 |
511 | R>L | No |
ClinGen Ensembl |
|
|
rs368268627 CA1722714 |
512 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50467515 rs1034976985 |
514 | P>A | No |
ClinGen Ensembl |
|
|
rs374350103 CA50467511 |
514 | P>H | No |
ClinGen Ensembl |
|
|
CA50467513 rs1034976985 |
514 | P>S | No |
ClinGen Ensembl |
|
|
CA1722713 rs753892654 |
515 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347331402 rs753892654 |
515 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003455696 CA50467505 |
516 | V>A | No |
ClinGen gnomAD |
|
|
rs563756097 CA50467501 |
517 | L>I | No |
ClinGen 1000Genomes |
|
|
rs1240097692 CA347331384 |
518 | E>Q | No |
ClinGen TOPMed |
|
|
rs1179417710 CA347331362 |
521 | S>Y | No |
ClinGen gnomAD |
|
|
rs542309265 CA1722712 |
527 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1722710 rs139920523 |
528 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139920523 CA347331311 |
528 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA50467452 rs1015436627 |
528 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347331303 rs1209202443 |
530 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1573208799 CA347331300 |
530 | L>P | No |
ClinGen Ensembl |
|
|
rs776687507 CA50467441 |
531 | P>R | No |
ClinGen Ensembl |
|
|
rs767708383 CA1722709 |
531 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287788210 CA347331272 |
533 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347331247 rs1455463438 |
535 | K>R | No |
ClinGen TOPMed |
|
|
rs1333048475 CA347331215 |
538 | P>S | No |
ClinGen gnomAD |
|
|
CA1722708 rs750882372 |
539 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750882372 CA50467416 |
539 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1386437726 CA347331187 |
541 | S>G | No |
ClinGen gnomAD |
|
|
rs372622223 CA1722707 |
542 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323005193 CA347331132 |
544 | N>K | No |
ClinGen gnomAD |
|
|
CA347331125 rs1356896954 |
545 | R>Q | No |
ClinGen gnomAD |
|
|
CA50467414 CA347331059 rs573053047 |
550 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1049968258 CA50467377 |
557 | E>Q | No |
ClinGen Ensembl |
|
|
rs1156275881 CA347330928 |
559 | E>G | No |
ClinGen gnomAD |
|
|
CA347330917 rs1467193805 |
560 | D>N | No |
ClinGen gnomAD |
|
|
CA347330867 rs1375678756 |
562 | E>V | No |
ClinGen TOPMed |
|
|
CA347330861 rs1377829979 |
563 | G>S | No |
ClinGen gnomAD |
|
|
CA347330832 rs1197645947 |
564 | S>R | No |
ClinGen gnomAD |
|
|
CA1722705 rs7578228 |
565 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539243591 CA1722704 |
567 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347330755 rs1266238725 |
569 | V>A | No |
ClinGen gnomAD |
|
|
rs368552864 CA1722702 |
569 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347330700 rs1225754891 |
573 | P>L | No |
ClinGen TOPMed |
|
|
CA347330674 rs1347144672 |
575 | Q>H | No |
ClinGen gnomAD |
|
|
rs1203457289 CA347330684 |
575 | Q>K | No |
ClinGen gnomAD |
|
|
CA347330664 rs1256668764 |
576 | T>I | No |
ClinGen gnomAD |
|
|
CA347330644 rs1323447600 |
578 | A>D | No |
ClinGen TOPMed |
|
|
rs1381493586 CA347330650 |
578 | A>P | No |
ClinGen gnomAD |
|
|
CA347330625 rs1369082242 |
580 | K>T | No |
ClinGen TOPMed gnomAD |
No associated diseases with A6NN90
No regional properties for A6NN90
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A6NN90 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VLU5 | Wwox | WW domain-containing oxidoreductase | Drosophila melanogaster (Fruit fly) | PR |
| P16152 | CBR1 | Carbonyl reductase [NADPH] 1 | Homo sapiens (Human) | PR |
| O75828 | CBR3 | Carbonyl reductase [NADPH] 3 | Homo sapiens (Human) | PR |
| Q9HBH5 | RDH14 | Retinol dehydrogenase 14 | Homo sapiens (Human) | PR |
| Q9NZC7 | WWOX | WW domain-containing oxidoreductase | Homo sapiens (Human) | PR |
| Q91WL8 | Wwox | WW domain-containing oxidoreductase | Mus musculus (Mouse) | PR |
| Q8CEE7 | Rdh13 | Retinol dehydrogenase 13 | Mus musculus (Mouse) | PR |
| Q9ERI6 | Rdh14 | Retinol dehydrogenase 14 | Mus musculus (Mouse) | PR |
| Q9DAQ4 | Uncharacterized protein C2orf81 homolog | Mus musculus (Mouse) | PR | |
| Q6AXP4 | Uncharacterized protein C2orf81 homolog | Rattus norvegicus (Rat) | PR | |
| A2RVM0 | TIC32 | Short-chain dehydrogenase TIC 32, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q803A8 | wwox | WW domain-containing oxidoreductase | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHEGSRQVR | DRGVTRSKAE | KVRPPTVPVP | QVDIVPGRLS | EAEWMALTAL | EEGEDVVGDI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LADLLARVMD | SAFKVYLTQQ | CIPFTISQAR | EAMLQITEWR | FLARDEGESA | VAEDPTWGED |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEPSACTTDS | WAQGSVPVLH | ASTSEGLENF | QGEDPGGVDR | IPLGRSWMGR | GSQEQMESWE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSPQLRVTSA | PPPTSELFQE | AGPGGPVEEA | DGQSRGLSSA | GSLSASFQLS | VEEAPADDAD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PSLDPYLVAS | PQASTGRGHP | LGFHLSLEDL | YCCMPQLDAA | GDRLELRSEG | VPCIASGVLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SYPSVGGATR | PSASCQQQRA | GHSDVRLSAH | HHRMRRKAAV | KRLDPARLPC | HWVRPLAEVL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VPDSQTRPLE | AYRGRQRGEK | TKARAEPQAL | GPGTRVSPAA | FFPLRPGIPF | RDLDSGPALL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FPTLNLGLSS | PSLESKLPLP | NSRIRFLTTH | PVLPDVARSR | SPKLWPSVRW | PSGWEGKAEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LGELWAGRTR | VPPQGLELAD | REGQDPGRWP | RTTPPVLEAT | SQVMWKPVLL | PEALKLAPGV |
| 550 | 560 | 570 | 580 | ||
| SMWNRSTQVL | LSSGVPEQED | KEGSTFPPVE | QHPIQTGAPK | PR |