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 A6NGD5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NGD5-F1 | Predicted | AlphaFoldDB |
644 variants for A6NGD5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA407628868 rs1403614648 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs531222282 CA310329326 |
3 | A>S | No |
ClinGen 1000Genomes |
|
|
rs1255873901 CA407628885 |
3 | A>V | No |
ClinGen TOPMed |
|
|
CA9687646 rs762298814 |
4 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs768031218 CA9687647 |
6 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750942557 CA9687648 |
7 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1350232957 CA407629085 |
8 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9687649 rs756753221 |
9 | W>G | No |
ClinGen ExAC |
|
|
rs780116664 CA9687650 |
10 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA407629198 rs1489549860 |
11 | L>R | No |
ClinGen TOPMed |
|
|
rs1292255729 CA407629243 |
13 | E>G | No |
ClinGen gnomAD |
|
|
rs755180147 CA9687652 |
14 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA407629270 rs1266664590 |
14 | S>Y | No |
ClinGen gnomAD |
|
|
rs45544034 CA9687653 |
15 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407629330 rs1361668710 |
16 | N>D | No |
ClinGen gnomAD |
|
|
CA310329354 rs951580224 |
17 | S>N | No |
ClinGen Ensembl |
|
|
rs111438429 CA9687655 |
17 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1163883459 CA407629409 |
19 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1163883459 CA407629419 |
19 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9687656 rs781026773 |
20 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs912853305 CA310329361 |
21 | E>K | No |
ClinGen Ensembl |
|
|
rs769618799 CA9687658 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA407629515 rs769618799 |
22 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1211073457 CA407629512 |
22 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9687662 rs774114739 |
23 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407629544 rs774114739 |
23 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768313537 CA9687661 |
23 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9687664 rs201663763 |
24 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201663763 CA407629561 |
24 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687665 rs10419548 VAR_052927 |
24 | Q>R | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA407629641 rs1480938524 |
26 | M>I | No |
ClinGen gnomAD |
|
|
rs753915766 CA9687668 |
26 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766819474 CA9687667 |
26 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687669 rs754985060 |
27 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1247782489 CA407629664 |
27 | P>L | No |
ClinGen gnomAD |
|
|
CA9687670 rs754985060 |
27 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs752907296 CA9687671 |
28 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407629716 rs1386770179 |
29 | P>Q | No |
ClinGen gnomAD |
|
|
rs570960186 CA9687672 |
29 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs183089836 CA9687675 |
30 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780894053 CA9687673 |
30 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs183089836 CA9687674 |
30 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs925329830 CA310329478 |
31 | T>I | No |
ClinGen Ensembl |
|
|
CA9687677 rs749286446 |
32 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1423969469 CA407629799 |
33 | L>P | No |
ClinGen TOPMed |
|
|
CA9687678 rs768029746 |
36 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9687679 rs774061869 |
37 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs556401107 CA9687680 |
38 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556401107 CA9687681 |
38 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760978357 CA9687683 |
38 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687684 rs570007629 |
38 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556401107 CA9687682 |
38 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407629947 rs1208196849 |
39 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1311773379 CA407629995 |
41 | E>K | No |
ClinGen gnomAD |
|
|
rs760151439 CA9687686 |
42 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9687687 rs765301037 |
42 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765301037 CA407630028 |
42 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310329512 rs931274343 |
43 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs535461105 CA9687688 |
43 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407630047 rs931274343 |
43 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA310329514 rs936756781 |
43 | C>W | No |
ClinGen gnomAD |
|
|
CA407630058 rs1459725618 |
44 | H>L | No |
ClinGen gnomAD |
|
|
CA310329530 rs1052544157 |
44 | H>N | No |
ClinGen gnomAD |
|
|
rs764320968 CA9687691 |
45 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764320968 CA9687690 |
45 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113755664 CA9687692 |
46 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs113755664 CA407630078 |
46 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687694 rs534126266 |
49 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755008749 CA310329585 |
50 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755008749 CA9687695 |
50 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407630131 rs1404122554 |
51 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9687696 rs778509113 |
52 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA9687697 rs747682692 |
53 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA310329596 rs1046739413 |
53 | P>S | No |
ClinGen Ensembl |
|
|
rs576973762 CA9687699 |
54 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407630181 rs1339766495 |
55 | E>D | No |
ClinGen gnomAD |
|
|
CA310329605 rs545849049 |
55 | E>G | No |
ClinGen 1000Genomes |
|
|
rs746727068 CA9687700 |
55 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9687702 rs771189828 |
56 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687701 rs771189828 |
56 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015950846 CA310329623 |
57 | D>E | No |
ClinGen Ensembl |
|
|
rs1196759425 CA407630194 |
57 | D>N | No |
ClinGen TOPMed |
|
|
CA9687705 rs775495992 |
58 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407630235 rs1487044647 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA407630249 rs1185154173 |
62 | L>P | No |
ClinGen gnomAD |
|
|
rs764196339 CA9687707 |
67 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764196339 CA407630292 |
67 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9687708 rs751708027 |
69 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1202291572 CA407630367 |
74 | R>K | No |
ClinGen gnomAD |
|
|
CA9687710 rs762152187 |
74 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA407630381 rs1257172079 |
75 | P>L | No |
ClinGen TOPMed |
|
|
CA9687711 rs576114932 |
75 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA310329676 rs968928619 |
76 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9687713 rs779026430 |
76 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757962748 CA9687715 |
80 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407630441 rs1405458139 |
81 | E>G | No |
ClinGen gnomAD |
|
|
rs1364864566 CA407630476 |
85 | D>Y | No |
ClinGen gnomAD |
|
|
rs746641828 CA9687717 |
87 | L>R | No |
ClinGen ExAC |
|
|
CA9687718 rs770624449 |
89 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687719 rs781349754 |
91 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318355766 CA407630542 |
91 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA407630543 rs1318355766 |
91 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA407630551 rs1599946682 |
92 | F>L | No |
ClinGen Ensembl |
|
|
CA407630578 rs1415404790 |
94 | I>F | No |
ClinGen TOPMed |
|
|
rs1415404790 CA407630576 |
94 | I>L | No |
ClinGen TOPMed |
|
|
CA9687721 rs561394100 |
95 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561394100 CA9687720 |
95 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687722 rs775941782 |
96 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225363133 CA407630625 |
98 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9687724 rs768707473 |
100 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687725 rs774557762 |
101 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA407630661 rs1276360928 |
102 | V>I | No |
ClinGen TOPMed |
|
|
CA407630694 rs1158320600 |
104 | V>D | No |
ClinGen gnomAD |
|
|
rs1417578985 CA407630691 |
104 | V>F | No |
ClinGen gnomAD |
|
|
CA407630685 rs1417578985 |
104 | V>I | No |
ClinGen gnomAD |
|
|
CA9687727 rs767804047 |
105 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687726 rs761873140 |
105 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687728 rs753537807 |
106 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687729 rs377594685 |
107 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918537853 CA310329757 |
107 | N>Y | No |
ClinGen TOPMed |
|
|
CA407630755 rs201824207 |
108 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564669506 CA9687732 |
108 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9687731 rs201824207 |
108 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687734 rs200274779 |
109 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550380038 CA310329790 CA407630778 |
110 | Q>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1360600955 CA407630774 |
110 | Q>R | No |
ClinGen gnomAD |
|
|
CA407630843 rs1434620979 |
115 | L>P | No |
ClinGen TOPMed |
|
|
rs780924287 CA9687736 |
116 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687737 rs570033461 |
117 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687738 rs756445990 |
120 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs780454207 CA9687739 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535992945 CA310329819 |
122 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687740 rs535992945 |
122 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407630937 rs111342645 |
124 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs111342645 CA9687741 |
124 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407630967 rs1411480278 |
126 | K>N | No |
ClinGen gnomAD |
|
|
rs774246912 CA9687743 |
128 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313591803 CA407631435 |
130 | V>A | No |
ClinGen Ensembl |
|
|
rs147141524 COSM3960574 CA9687760 |
130 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs994867231 CA310330552 |
132 | S>N | No |
ClinGen TOPMed |
|
|
CA310330556 rs563688156 |
134 | L>P | No |
ClinGen 1000Genomes |
|
| TCGA novel | 135 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9687762 rs748653388 |
136 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs772181674 CA9687763 |
136 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA310330565 rs375184931 |
137 | E>Q | No |
ClinGen Ensembl |
|
|
rs1216248810 CA407631528 |
138 | Y>C | No |
ClinGen gnomAD |
|
|
CA407631544 rs1463246196 |
139 | L>H | No |
ClinGen TOPMed |
|
|
CA407631558 rs1243739583 |
140 | M>I | No |
ClinGen gnomAD |
|
|
rs1415364039 CA407631555 |
140 | M>R | No |
ClinGen TOPMed |
|
|
rs1415364039 CA407631554 |
140 | M>T | No |
ClinGen TOPMed |
|
|
rs1476814581 CA407631564 |
141 | Q>L | No |
ClinGen gnomAD |
|
|
rs1476814581 CA407631566 |
141 | Q>R | No |
ClinGen gnomAD |
|
|
CA407631583 rs1192920824 |
142 | E>D | No |
ClinGen gnomAD |
|
|
CA407631572 rs1568590819 |
142 | E>K | No |
ClinGen Ensembl |
|
|
CA407631609 rs1481168899 |
144 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 144 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170428940 CA407631612 |
145 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1170428940 CA407631611 |
145 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1401580853 CA407631623 |
146 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs747165614 CA9687765 |
146 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9687766 rs771295330 |
147 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA407631649 rs1374509490 |
148 | A>T | No |
ClinGen gnomAD |
|
|
CA407631656 rs1568590835 |
149 | E>K | No |
ClinGen Ensembl |
|
|
CA9687767 rs775380981 |
150 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs986137276 CA310330575 |
150 | A>V | No |
ClinGen TOPMed |
|
|
rs1018828708 CA310330577 |
151 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200501867 CA407631674 |
152 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200501867 CA9687769 |
152 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687770 rs774319475 |
153 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774319475 CA407631681 |
153 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308532346 CA407631708 |
156 | D>G | No |
ClinGen TOPMed |
|
|
rs1287870066 CA407631729 |
157 | D>E | No |
ClinGen gnomAD |
|
|
CA9687772 rs767047796 |
158 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687774 rs755705497 |
159 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs957061908 CA310330644 |
160 | H>D | No |
ClinGen gnomAD |
|
|
rs187699193 CA407631759 |
160 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA310330648 rs989897044 |
160 | H>R | No |
ClinGen gnomAD |
|
|
rs139308373 CA9687776 |
161 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407631770 rs139308373 |
161 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407631764 rs1470320579 |
161 | V>L | No |
ClinGen gnomAD |
|
|
rs1470320579 CA407631762 |
161 | V>M | No |
ClinGen gnomAD |
|
|
rs1378851576 CA407631778 |
162 | S>C | No |
ClinGen gnomAD |
|
|
CA407631782 rs1304223041 |
163 | S>R | No |
ClinGen gnomAD |
|
|
CA407631791 rs1368009192 |
163 | S>T | No |
ClinGen gnomAD |
|
|
rs928215839 CA310330685 |
164 | Q>H | No |
ClinGen Ensembl |
|
|
CA407631812 rs746194868 |
165 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687780 rs28630936 |
165 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687779 COSM3960575 rs28630936 |
165 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746194868 CA9687778 |
165 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687781 rs777945896 |
166 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9687782 rs192626663 |
166 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687784 rs533038317 |
167 | S>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1351213023 CA407631836 |
167 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1351213023 CA407631833 |
167 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs746123190 CA9687787 |
169 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA407631875 rs768483007 |
170 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA407631882 rs1207502030 |
171 | Q>* | No |
ClinGen gnomAD |
|
|
rs573534024 CA9687789 |
171 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573534024 CA310330750 |
171 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687791 CA9687792 rs772010951 |
172 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310330751 rs1045960778 |
172 | M>L | No |
ClinGen TOPMed |
|
|
rs780610359 CA9687790 |
172 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372754174 CA9687793 |
173 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs545734392 CA9687794 |
174 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407631924 rs545734392 |
174 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439400540 CA407631920 |
174 | P>S | No |
ClinGen gnomAD |
|
|
rs375519355 CA9687796 |
175 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397299677 CA407631941 |
176 | E>K | No |
ClinGen gnomAD |
|
|
CA407631983 rs1329486572 |
179 | A>G | No |
ClinGen gnomAD |
|
|
CA407631980 rs1236588196 |
179 | A>T | No |
ClinGen TOPMed |
|
|
CA407631991 rs765574024 |
180 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753020719 CA9687798 |
180 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9687797 rs765574024 |
180 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758893298 CA9687799 |
181 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758893298 CA9687800 |
181 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310330788 rs919418716 |
181 | Q>H | No |
ClinGen TOPMed |
|
|
rs4801690 CA407632005 |
181 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs4801690 CA407632003 |
181 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_042970 rs4801690 CA9687801 |
181 | Q>R | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA407632015 rs1339410632 |
182 | E>G | No |
ClinGen gnomAD |
|
|
CA407632009 rs1264855688 |
182 | E>K | No |
ClinGen gnomAD |
|
|
CA9687803 rs555178150 |
183 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407632028 rs555178150 |
183 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9687804 rs746096775 |
184 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769911311 CA9687805 |
185 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310330805 rs965928391 |
187 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747917091 CA9687807 |
188 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA407632073 rs1187440526 |
188 | R>K | No |
ClinGen gnomAD |
|
|
CA407632077 rs1187440526 |
188 | R>M | No |
ClinGen gnomAD |
|
|
CA9687809 rs143310379 |
189 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687810 rs760664161 |
190 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA407632094 rs760664161 |
190 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759174104 CA9687813 |
192 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9687815 rs753070346 |
193 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326987669 CA407632142 |
194 | R>K | No |
ClinGen gnomAD |
|
|
rs1311838115 CA407632139 |
194 | R>W | No |
ClinGen gnomAD |
|
|
rs764599402 CA9687817 |
196 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687845 CA9687844 rs12979551 VAR_042971 |
197 | E>D | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs755195357 CA9687843 |
197 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA310331819 rs866005966 |
197 | E>K | No |
ClinGen Ensembl |
|
|
rs529692972 CA9687847 |
198 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687848 rs745870709 |
200 | F>I | No |
ClinGen ExAC TOPMed |
|
|
CA407632983 rs1238438271 |
203 | P>S | No |
ClinGen gnomAD |
|
|
CA9687852 rs775136284 |
205 | T>S | No |
ClinGen ExAC |
|
|
rs748885026 CA9687853 |
206 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9687854 rs768437959 |
206 | T>I | No |
ClinGen ExAC |
|
|
rs748885026 CA407633051 |
206 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs762300709 CA9687856 |
207 | V>D | No |
ClinGen ExAC |
|
|
rs774808535 CA407633062 |
207 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774808535 CA9687855 |
207 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761310428 CA9687859 |
208 | M>I | No |
ClinGen ExAC |
|
|
rs143561566 CA9687858 |
208 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767965933 CA9687857 |
208 | M>V | No |
ClinGen ExAC |
|
|
CA9687860 rs766300962 |
209 | K>T | No |
ClinGen ExAC |
|
|
CA407633101 rs1197002921 |
210 | G>S | No |
ClinGen TOPMed |
|
|
rs1234492612 CA407633128 |
211 | D>A | No |
ClinGen TOPMed |
|
|
rs1177988154 CA407633135 |
211 | D>E | No |
ClinGen gnomAD |
|
|
rs1273314160 CA407633122 |
211 | D>N | No |
ClinGen TOPMed |
|
|
rs753925546 CA9687861 |
212 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1156643271 CA407633169 |
213 | K>N | No |
ClinGen gnomAD |
|
|
CA9687862 rs759703238 |
214 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA407633206 rs1405856311 |
216 | R>K | No |
ClinGen gnomAD |
|
|
CA407633233 rs1166877352 |
218 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA407633269 rs765471478 |
219 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687863 rs765471478 |
219 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765471478 CA407633266 |
219 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757019939 CA9687865 |
220 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687868 rs756085746 |
222 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA407633361 rs1230525451 |
224 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA407633358 rs1230525451 |
224 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA407633356 rs1230525451 |
224 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1321141914 CA407633383 |
225 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs748831693 CA9687870 |
226 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9687871 rs748831693 |
226 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs77492865 CA9687873 |
228 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778678602 CA9687872 |
228 | D>N | No |
ClinGen ExAC |
|
|
rs772318492 CA9687874 |
229 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs761028541 CA9687876 |
231 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9687878 rs1223375826 |
233 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771488978 CA407633537 |
233 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771488978 CA9687877 |
233 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs916548853 CA310332055 |
234 | G>A | No |
ClinGen TOPMed |
|
|
CA407633544 rs1183513294 |
234 | G>R | No |
ClinGen gnomAD |
|
|
rs765346108 CA9687883 |
236 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA407633593 rs1411552376 |
236 | T>S | No |
ClinGen gnomAD |
|
|
CA9687884 rs752907379 |
237 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9687886 rs767154435 |
238 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs888137022 CA310332097 |
239 | E>Q | No |
ClinGen Ensembl |
|
|
CA407633675 rs1184194787 |
240 | P>R | No |
ClinGen TOPMed |
|
|
rs755958567 CA9687888 |
243 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs750248765 CA9687887 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9687890 CA407633748 rs753867680 |
244 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687889 rs117883767 |
244 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687892 rs778633559 |
245 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935526502 CA407633774 |
246 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA310332130 rs935526502 |
246 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1245529753 CA407633906 |
247 | T>R | No |
ClinGen TOPMed |
|
|
CA407633792 rs1198244723 |
247 | T>S | No |
ClinGen gnomAD |
|
|
rs774611209 CA9687927 |
248 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774611209 CA310332644 |
248 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774611209 CA9687926 |
248 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890242579 CA310332649 |
249 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9687929 rs199505069 |
250 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036206521 CA310332673 |
251 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759497089 CA9687930 |
252 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407634019 rs1371807754 |
254 | E>K | No |
ClinGen TOPMed |
|
|
rs1267395913 CA407634039 |
255 | G>R | No |
ClinGen gnomAD |
|
|
rs1196286835 CA407634067 |
256 | K>N | No |
ClinGen gnomAD |
|
|
CA407634089 rs1440629933 |
257 | E>D | No |
ClinGen gnomAD |
|
|
CA9687931 rs765294655 |
257 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407634075 rs765294655 |
257 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407634112 rs1865102 |
259 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310332691 rs898971338 |
259 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
VAR_052928 CA9687933 rs1865102 |
259 | Q>K | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs775705313 | 259 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419595921 CA407634125 |
259 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1419595921 CA407634127 |
259 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| rs1180932932 | 259 | Q>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9687934 rs138336861 |
261 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687935 rs566350079 |
261 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687936 rs566350079 |
261 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407634162 rs566350079 |
261 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781482076 CA9687938 |
262 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9687939 rs746257251 |
263 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780582467 CA9687941 |
264 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs566997263 CA9687940 |
264 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1266020462 CA407634216 |
265 | E>K | No |
ClinGen gnomAD |
|
|
rs1034983410 CA310332724 |
266 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA407634247 rs1034983410 |
266 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 269 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407634334 rs1272101478 |
270 | D>G | No |
ClinGen gnomAD |
|
|
CA407634351 rs1236726474 |
271 | T>I | No |
ClinGen gnomAD |
|
|
CA407634346 rs1200186111 |
271 | T>S | No |
ClinGen gnomAD |
|
|
rs748343560 CA9687947 |
272 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9687946 rs774361458 |
272 | P>S | No |
ClinGen ExAC |
|
|
CA9687948 rs772445073 |
273 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9687950 rs759372600 |
275 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA9687951 COSM3835879 rs112388036 |
275 | C>W | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9687953 rs762862197 |
276 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9687955 rs751049404 |
279 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA310332809 rs968221084 |
279 | R>T | No |
ClinGen TOPMed |
|
|
rs569404024 CA9687956 |
280 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407634536 rs1313253515 |
281 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9687957 rs767191920 |
282 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599948213 CA407634592 |
284 | H>D | No |
ClinGen Ensembl |
|
| TCGA novel | 284 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310332838 rs539231454 |
285 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687959 rs539231454 |
285 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687960 rs538025264 |
285 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407634626 CA407634639 rs1255776361 |
286 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9687962 rs755453158 |
287 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9687963 rs779001342 |
288 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1187912472 CA407634714 |
290 | D>G | No |
ClinGen gnomAD |
|
|
CA9687968 rs747290452 |
291 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189041545 CA9687966 |
291 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747290452 CA9687967 |
291 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461259116 CA407634768 |
293 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1599948243 CA407634758 |
293 | N>Y | No |
ClinGen Ensembl |
|
|
CA9687971 rs768504160 |
295 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554088494 CA9687972 |
296 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687973 rs554088494 |
296 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577184275 CA9687974 |
297 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310332938 rs910716109 |
298 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1306587343 CA407634861 |
299 | R>G | No |
ClinGen gnomAD |
|
|
rs750065547 CA9687977 |
302 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750065547 CA9687976 |
302 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA407634944 rs182258045 |
303 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310332983 rs1043290028 |
304 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9687981 rs558551680 |
304 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687980 rs558551680 |
304 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575645142 CA407634968 |
305 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575645142 CA9687982 |
305 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747157803 CA9687986 |
307 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs747157803 CA9687985 |
307 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs998844033 CA310333012 |
308 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1432646263 CA407635050 |
309 | Q>E | No |
ClinGen gnomAD |
|
|
CA407635055 rs1172867362 |
309 | Q>R | No |
ClinGen gnomAD |
|
|
rs749070591 CA9687988 |
310 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771567380 CA9687992 |
311 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9687991 rs544412846 |
311 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768538647 CA9687990 |
311 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9687989 rs768538647 |
311 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9687993 rs561115748 |
314 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574540411 CA9687995 |
315 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9687994 rs760271307 |
315 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1358031768 CA407635191 |
316 | A>S | No |
ClinGen Ensembl |
|
|
rs1234023521 CA407635216 |
317 | T>A | No |
ClinGen gnomAD |
|
|
rs1023046609 CA310333125 |
318 | P>L | No |
ClinGen TOPMed |
|
|
CA9687997 rs776383541 |
318 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1215146880 CA407635262 |
319 | V>M | No |
ClinGen gnomAD |
|
|
CA9687999 rs765688843 |
320 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA310333147 rs187259683 CA9688002 |
322 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751714974 CA9688003 |
324 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751714974 CA407635373 |
324 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144342026 CA9688005 |
325 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9688007 rs754718230 |
326 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs375349337 CA9688009 |
328 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772011301 CA9688010 |
329 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407635863 rs1294850262 |
329 | E>K | No |
ClinGen gnomAD |
|
|
CA9688011 rs772668327 |
330 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688013 rs746470341 |
330 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688014 rs776133024 |
331 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs759297380 CA9688015 |
331 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA407635882 rs765629132 |
332 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765629132 CA9688016 |
332 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310333214 rs576361997 |
333 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs576361997 CA407635886 |
333 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1274755537 CA407635893 |
334 | H>N | No |
ClinGen TOPMed |
|
|
CA407635895 rs1223904265 |
334 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407635901 rs1599948370 |
335 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 336 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310333237 rs955100305 |
336 | P>R | No |
ClinGen Ensembl |
|
|
rs763508236 CA9688018 |
336 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407635912 rs1295845454 |
337 | G>D | No |
ClinGen TOPMed |
|
|
rs1339717348 CA407635911 |
337 | G>R | No |
ClinGen TOPMed |
|
|
CA9688020 rs752153895 |
338 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407635916 rs752153895 |
338 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688021 rs140150496 |
339 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767695647 CA9688022 |
339 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910977826 CA407635924 |
340 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs910977826 CA310333285 |
340 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1431852062 CA407635930 |
341 | P>A | No |
ClinGen TOPMed |
|
|
CA9688026 rs778622109 |
342 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688027 rs747967970 |
343 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758229904 CA407635942 |
343 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9688028 rs758229904 |
343 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9688030 rs747023885 |
344 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA310333322 rs904991111 |
344 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9688032 rs780756259 |
345 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA310333331 rs868403103 |
346 | S>G | No |
ClinGen TOPMed |
|
|
CA9688033 rs745449611 |
346 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA407635957 rs868403103 |
346 | S>R | No |
ClinGen TOPMed |
|
|
rs939284442 CA310333335 |
347 | G>V | No |
ClinGen TOPMed |
|
|
CA9688034 rs769588698 |
348 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs769195416 CA9688037 |
350 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs775961499 CA9688035 |
350 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688036 rs775961499 |
350 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407635997 rs1260256138 |
352 | E>A | No |
ClinGen gnomAD |
|
|
rs1599948419 CA407636000 |
352 | E>D | No |
ClinGen Ensembl |
|
|
CA9688038 rs774710001 |
353 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568591992 CA407636002 |
353 | L>Q | No |
ClinGen Ensembl |
|
|
CA9688039 rs774710001 |
353 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310333380 rs934895673 |
354 | L>P | No |
ClinGen gnomAD |
|
|
rs1053407521 CA310333400 |
356 | F>L | No |
ClinGen Ensembl |
|
|
rs750531687 CA9688041 |
356 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA310333415 rs892364924 |
356 | F>S | No |
ClinGen TOPMed |
|
|
CA407636023 rs760839620 |
357 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760839620 CA9688042 |
357 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766556057 CA9688043 |
358 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014260062 CA310333448 |
359 | E>D | No |
ClinGen TOPMed |
|
|
CA407636032 rs1408522901 |
359 | E>K | No |
ClinGen gnomAD |
|
|
rs1408522901 CA407636033 |
359 | E>Q | No |
ClinGen gnomAD |
|
|
rs1599948444 CA407636039 |
360 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 361 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9688044 rs201605886 |
361 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201605886 CA407636045 |
361 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372171239 CA407636052 |
362 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1311651063 CA407636053 |
362 | G>D | No |
ClinGen gnomAD |
|
|
CA9688046 rs372171239 |
362 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372171239 CA310333459 |
362 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407636076 rs1159997439 |
365 | F>C | No |
ClinGen gnomAD |
|
|
CA407636072 rs1415273742 |
365 | F>L | No |
ClinGen TOPMed |
|
|
CA9688048 rs757227544 |
366 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9688049 rs780516758 |
367 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs745417441 CA9688050 |
368 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688051 rs769471573 |
368 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688053 rs749009777 |
369 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 369 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407636098 rs749009777 |
369 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749009777 CA407636097 |
369 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769138573 CA9688054 |
370 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769138573 CA310333509 |
370 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407636118 rs533987933 |
372 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533987933 CA9688056 |
372 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310333592 rs200083612 |
373 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688057 rs200083612 |
373 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688058 rs547597745 |
374 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538159511 CA9688059 |
375 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538159511 CA9688060 |
375 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9688061 rs538159511 |
375 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9688064 rs751390278 |
380 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757099294 CA9688065 |
381 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688066 rs781156926 |
382 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407636221 rs781156926 |
382 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688068 rs750379825 |
383 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA9688069 rs750379825 |
383 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs755676521 CA9688070 |
384 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs748882976 CA9688072 |
386 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA407636280 rs1337190655 |
387 | N>H | No |
ClinGen gnomAD |
|
|
CA9688073 rs754690559 |
387 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA310333707 rs980901920 |
388 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9688076 rs772369567 |
390 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772369567 CA407636325 |
390 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375338886 CA9688075 |
390 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747581716 CA9688078 |
391 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs538143117 CA9688079 |
392 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1056213191 CA310333786 |
392 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9688080 rs538143117 |
392 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9688081 rs759701276 |
394 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407636394 rs1327785600 |
395 | Q>K | No |
ClinGen TOPMed |
|
|
CA9688084 rs765525088 |
396 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs765525088 CA9688082 |
396 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9688085 rs767277406 |
396 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688086 rs767277406 |
396 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310333804 rs767277406 |
396 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688083 rs765525088 |
396 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs756125884 CA9688087 |
397 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240764887 CA407636427 |
398 | G>S | No |
ClinGen gnomAD |
|
|
CA407636452 rs1204074628 |
400 | Q>* | No |
ClinGen gnomAD |
|
|
rs754548606 CA9688090 |
401 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA407636477 rs1282605261 |
402 | H>R | No |
ClinGen TOPMed |
|
|
rs1211486160 CA407636473 |
402 | H>Y | No |
ClinGen gnomAD |
|
|
CA407636493 rs1252760952 |
403 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778604560 CA9688091 |
404 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9688093 rs545364962 |
404 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9688092 rs545364962 |
404 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407636524 rs1568592129 |
405 | T>A | No |
ClinGen Ensembl |
|
|
rs778004491 CA9688094 |
405 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568592129 CA407636522 |
405 | T>S | No |
ClinGen Ensembl |
|
|
rs1167067514 CA407636533 |
406 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs558727325 CA9688096 |
407 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688097 rs776648682 |
407 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA407636558 rs1406637776 |
408 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 411 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325548227 CA407636598 |
411 | P>S | No |
ClinGen gnomAD |
|
|
CA310333877 rs1001543940 |
412 | Y>* | No |
ClinGen Ensembl |
|
|
CA407636619 rs1398283519 |
412 | Y>C | No |
ClinGen gnomAD |
|
|
CA9688102 rs763155291 |
413 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9688101 rs775770619 |
413 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs763155291 CA407636629 |
413 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA310333879 rs775770619 |
413 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9688106 rs766452600 |
414 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA9688107 rs753867847 |
414 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA407636649 rs1307009716 |
415 | D>H | No |
ClinGen gnomAD |
|
|
CA9688109 rs559968570 |
416 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200885496 CA310333949 |
417 | C>G | No |
ClinGen Ensembl |
|
|
rs757999954 CA9688111 |
420 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407636728 rs1197949864 |
420 | Q>H | No |
ClinGen gnomAD |
|
|
rs757999954 CA407636716 |
420 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407636731 rs1248921984 |
421 | F>L | No |
ClinGen gnomAD |
|
|
CA9688112 rs778059773 |
423 | Q>K | No |
ClinGen ExAC |
|
|
CA9688113 rs751948339 |
423 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs757655840 CA9688114 |
426 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407636821 rs1164394202 |
427 | L>F | No |
ClinGen gnomAD |
|
|
CA9688115 rs184245764 |
428 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1462263264 CA407636841 |
429 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169411616 CA407636853 |
430 | H>R | No |
ClinGen gnomAD |
|
|
CA407636882 rs1299524903 |
432 | R>I | No |
ClinGen TOPMed |
|
|
rs746423327 CA9688116 |
433 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs951778024 CA310334007 |
433 | S>R | No |
ClinGen TOPMed |
|
|
rs1390748067 CA407636924 |
435 | T>I | No |
ClinGen gnomAD |
|
|
CA9688117 rs769917098 |
436 | G>W | No |
ClinGen ExAC |
|
|
rs45622531 CA9688119 |
437 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407636971 rs1372076047 |
439 | P>L | No |
ClinGen TOPMed |
|
|
CA9688120 rs768782420 |
439 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339201596 CA407637001 |
441 | E>A | No |
ClinGen gnomAD |
|
|
rs770906696 CA9688123 |
441 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs770906696 CA407636995 |
441 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9688124 rs776702821 |
442 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9688125 rs531838465 |
442 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9688126 rs561918277 |
444 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1192222244 CA407637064 |
445 | C>R | No |
ClinGen TOPMed |
|
|
CA407637074 rs1479291847 |
446 | K>R | No |
ClinGen TOPMed |
|
|
CA9688127 rs752166674 |
447 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA407637111 rs1599948629 |
450 | T>P | No |
ClinGen Ensembl |
|
|
rs1568592227 CA407637143 |
452 | K>N | No |
ClinGen Ensembl |
|
|
rs762622132 CA9688128 |
452 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925206699 CA310334106 |
453 | A>G | No |
ClinGen TOPMed |
|
|
rs201238284 CA9688132 |
454 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs891257944 CA310334119 |
454 | N>S | No |
ClinGen TOPMed |
|
|
CA9688133 rs548005102 |
457 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407637204 rs548005102 |
457 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781606654 CA310334145 |
458 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781606654 CA9688134 |
458 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407637216 rs1599948652 |
458 | H>P | No |
ClinGen Ensembl |
|
|
rs1282070079 CA407637226 |
459 | Q>K | No |
ClinGen TOPMed |
|
|
rs750880583 CA407637235 |
459 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750880583 CA9688135 |
459 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756596728 CA9688136 |
460 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310334162 COSM255985 rs994017540 |
460 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA407637247 rs994017540 |
460 | R>P | No |
ClinGen gnomAD |
|
|
rs780133256 CA9688137 |
462 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1185320590 CA407637289 |
464 | G>R | No |
ClinGen gnomAD |
|
|
CA407637309 rs1461186920 |
465 | E>D | No |
ClinGen TOPMed |
|
|
rs535872828 CA9688139 |
465 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407637325 rs779257174 |
466 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407637328 rs1177332512 |
467 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 468 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9688143 rs776580386 |
468 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745624946 CA9688142 |
468 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407637372 rs1198743011 |
470 | C>G | No |
ClinGen TOPMed |
|
|
CA407637370 rs1198743011 |
470 | C>R | No |
ClinGen TOPMed |
|
|
CA407637393 rs1184944612 |
471 | S>F | No |
ClinGen gnomAD |
|
|
rs1184944612 CA407637389 |
471 | S>Y | No |
ClinGen gnomAD |
|
|
CA407637398 rs1254095762 |
472 | K>* | No |
ClinGen TOPMed |
|
|
CA9688144 rs759469050 |
472 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 473 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310334198 rs1017940254 |
474 | P>S | No |
ClinGen TOPMed |
|
|
rs769645499 CA9688145 |
475 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9688146 rs775533633 |
476 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9688147 rs762344882 |
477 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407637473 rs1172995694 |
478 | G>A | No |
ClinGen gnomAD |
|
|
rs763649961 CA407637469 |
478 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763649961 CA9688149 |
478 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763649961 CA9688148 |
478 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407637480 rs539972402 |
479 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9688151 rs539972402 COSM3389415 |
479 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9688150 rs761462529 |
479 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310334255 rs549862451 |
480 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9688154 rs549862451 |
480 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755102345 CA407637500 |
481 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754419585 CA9688156 |
481 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs755102345 COSM3378955 CA9688157 |
481 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748322715 CA407637533 |
484 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs748322715 CA9688159 |
484 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA407637536 rs1213774766 |
484 | R>S | No |
ClinGen gnomAD |
|
|
CA9688160 rs151214006 |
485 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554922452 CA9688161 |
485 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407637547 rs1404398580 |
486 | H>R | No |
ClinGen TOPMed |
|
|
rs1450679223 CA407637546 |
486 | H>Y | No |
ClinGen TOPMed |
|
|
CA310334295 rs989010147 |
487 | Q>R | No |
ClinGen Ensembl |
|
|
rs745616329 CA407637577 |
490 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs745616329 CA9688162 |
490 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1215862265 CA407637575 |
490 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1001819 CA407637581 rs1466978397 |
491 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA407637580 rs1466978397 |
491 | R>G | No |
ClinGen gnomAD |
|
|
rs769676888 CA407637582 |
491 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs769676888 CA9688163 |
491 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775274399 CA9688164 |
492 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749293522 CA9688165 |
493 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950282449 CA310334314 |
493 | A>V | No |
ClinGen Ensembl |
|
|
CA310334316 rs771737945 |
494 | T>N | No |
ClinGen gnomAD |
|
|
CA310334321 rs980347957 |
495 | S>A | No |
ClinGen gnomAD |
|
|
CA407637601 rs980347957 |
495 | S>P | No |
ClinGen gnomAD |
|
|
CA9688166 rs768091707 |
496 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407637615 rs1392669292 |
497 | Q>S | No |
ClinGen gnomAD |
No associated diseases with A6NGD5
6 regional properties for A6NGD5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PB1 domain | 287 - 367 | IPR000270 |
| domain | SH3 domain | 371 - 430 | IPR001452 |
| repeat | Tetratricopeptide repeat | 38 - 71 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 72 - 105 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 122 - 155 | IPR019734-3 |
| domain | PB1-like domain | 287 - 367 | IPR053793 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| metal ion binding | Binding to a metal ion. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
177 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08DS3 | OSR1 | Protein odd-skipped-related 1 | Bos taurus (Bovine) | PR |
| Q2VWH6 | FEZF2 | Fez family zinc finger protein 2 | Bos taurus (Bovine) | PR |
| A6QNZ0 | ZSCAN26 | Zinc finger and SCAN domain-containing protein 26 | Bos taurus (Bovine) | PR |
| A7MBI1 | ZFP69 | Zinc finger protein 69 homolog | Bos taurus (Bovine) | PR |
| Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
| O42409 | GFI1B | Zinc finger protein Gfi-1b | Gallus gallus (Chicken) | PR |
| A2T6W2 | ZNF449 | Zinc finger protein 449 | Pan troglodytes (Chimpanzee) | PR |
| Q9U405 | grau | Transcription factor grauzone | Drosophila melanogaster (Fruit fly) | PR |
| Q7K0S9 | sug | Zinc finger protein GLIS2 homolog | Drosophila melanogaster (Fruit fly) | PR |
| P20385 | Cf2 | Chorion transcription factor Cf2 | Drosophila melanogaster (Fruit fly) | PR |
| Q86P48 | ATbp | AT-rich binding protein | Drosophila melanogaster (Fruit fly) | PR |
| P28698 | MZF1 | Myeloid zinc finger 1 | Homo sapiens (Human) | PR |
| Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
| P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
| Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
| P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
| Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
| Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
| P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
| P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
| O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
| P49711 | CTCF | Transcriptional repressor CTCF | Homo sapiens (Human) | PR |
| Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
| Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
| Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
| Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
| Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
| Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
| O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
| Q13127 | REST | RE1-silencing transcription factor | Homo sapiens (Human) | PR |
| Q8IZM8 | ZNF654 | Zinc finger protein 654 | Homo sapiens (Human) | PR |
| Q14526 | HIC1 | Hypermethylated in cancer 1 protein | Homo sapiens (Human) | PR |
| Q06889 | EGR3 | Early growth response protein 3 | Homo sapiens (Human) | PR |
| Q08ER8 | ZNF543 | Zinc finger protein 543 | Homo sapiens (Human) | PR |
| Q8N680 | ZBTB2 | Zinc finger and BTB domain-containing protein 2 | Homo sapiens (Human) | PR |
| O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
| Q96BV0 | ZNF775 | Zinc finger protein 775 | Homo sapiens (Human) | PR |
| Q5FWF6 | ZNF789 | Zinc finger protein 789 | Homo sapiens (Human) | PR |
| Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
| Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
| Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
| Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | Homo sapiens (Human) | PR |
| Q6PG37 | ZNF790 | Zinc finger protein 790 | Homo sapiens (Human) | PR |
| Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | Homo sapiens (Human) | PR |
| Q9Y2D9 | ZNF652 | Zinc finger protein 652 | Homo sapiens (Human) | PR |
| Q5TC79 | ZBTB37 | Zinc finger and BTB domain-containing protein 37 | Homo sapiens (Human) | PR |
| Q9Y4E5 | ZNF451 | E3 SUMO-protein ligase ZNF451 | Homo sapiens (Human) | PR |
| Q8ND82 | ZNF280C | Zinc finger protein 280C | Homo sapiens (Human) | PR |
| Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
| O43298 | ZBTB43 | Zinc finger and BTB domain-containing protein 43 | Homo sapiens (Human) | PR |
| Q9Y330 | ZBTB12 | Zinc finger and BTB domain-containing protein 12 | Homo sapiens (Human) | PR |
| Q13105 | ZBTB17 | Zinc finger and BTB domain-containing protein 17 | Homo sapiens (Human) | PR |
| P51508 | ZNF81 | Zinc finger protein 81 | Homo sapiens (Human) | PR |
| Q5JNZ3 | ZNF311 | Zinc finger protein 311 | Homo sapiens (Human) | PR |
| Q9Y4X4 | KLF12 | Krueppel-like factor 12 | Homo sapiens (Human) | PR |
| P10074 | ZBTB48 | Telomere zinc finger-associated protein | Homo sapiens (Human) | PR |
| P17010 | ZFX | Zinc finger X-chromosomal protein | Homo sapiens (Human) | PR |
| Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
| Q9Y2L8 | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5 | Homo sapiens (Human) | PR |
| Q86UZ6 | ZBTB46 | Zinc finger and BTB domain-containing protein 46 | Homo sapiens (Human) | PR |
| Q8NCP5 | ZBTB44 | Zinc finger and BTB domain-containing protein 44 | Homo sapiens (Human) | PR |
| P41182 | BCL6 | B-cell lymphoma 6 protein | Homo sapiens (Human) | PR |
| Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
| Q9BU19 | ZNF692 | Zinc finger protein 692 | Homo sapiens (Human) | PR |
| Q08AG5 | ZNF844 | Zinc finger protein 844 | Homo sapiens (Human) | PR |
| Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
| P98182 | ZNF200 | Zinc finger protein 200 | Homo sapiens (Human) | PR |
| Q9UK11 | ZNF223 | Zinc finger protein 223 | Homo sapiens (Human) | PR |
| O15156 | ZBTB7B | Zinc finger and BTB domain-containing protein 7B | Homo sapiens (Human) | PR |
| Q6ZMS7 | ZNF783 | Zinc finger protein 783 | Homo sapiens (Human) | PR |
| P59923 | ZNF445 | Zinc finger protein 445 | Homo sapiens (Human) | PR |
| Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
| Q99612 | KLF6 | Krueppel-like factor 6 | Homo sapiens (Human) | PR |
| Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
| P52739 | ZNF131 | Zinc finger protein 131 | Homo sapiens (Human) | PR |
| Q05215 | EGR4 | Early growth response protein 4 | Homo sapiens (Human) | PR |
| Q7Z398 | ZNF550 | Zinc finger protein 550 | Homo sapiens (Human) | PR |
| Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q96N20 | ZNF75A | Zinc finger protein 75A | Homo sapiens (Human) | PR |
| A1YPR0 | ZBTB7C | Zinc finger and BTB domain-containing protein 7C | Homo sapiens (Human) | PR |
| P24278 | ZBTB25 | Zinc finger and BTB domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
| Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
| A6NJL1 | ZSCAN5B | Zinc finger and SCAN domain-containing protein 5B | Homo sapiens (Human) | PR |
| O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
| P17029 | ZKSCAN1 | Zinc finger protein with KRAB and SCAN domains 1 | Homo sapiens (Human) | PR |
| P49910 | ZNF165 | Zinc finger protein 165 | Homo sapiens (Human) | PR |
| Q86XF7 | ZNF575 | Zinc finger protein 575 | Homo sapiens (Human) | PR |
| Q8NAM6 | ZSCAN4 | Zinc finger and SCAN domain-containing protein 4 | Homo sapiens (Human) | PR |
| Q969J2 | ZKSCAN4 | Zinc finger protein with KRAB and SCAN domains 4 | Homo sapiens (Human) | PR |
| Q9H9D4 | ZNF408 | Zinc finger protein 408 | Homo sapiens (Human) | PR |
| Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
| Q9NPC7 | MYNN | Myoneurin | Homo sapiens (Human) | PR |
| P17022 | ZNF18 | Zinc finger protein 18 | Homo sapiens (Human) | PR |
| Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
| O60304 | ZNF500 | Zinc finger protein 500 | Homo sapiens (Human) | PR |
| Q9NX65 | ZSCAN32 | Zinc finger and SCAN domain-containing protein 32 | Homo sapiens (Human) | PR |
| Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
| O14771 | ZNF213 | Zinc finger protein 213 | Homo sapiens (Human) | PR |
| O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
| Q8IWY8 | ZSCAN29 | Zinc finger and SCAN domain-containing protein 29 | Homo sapiens (Human) | PR |
| Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
| Q8NF99 | ZNF397 | Zinc finger protein 397 | Homo sapiens (Human) | PR |
| Q9NWS9 | ZNF446 | Zinc finger protein 446 | Homo sapiens (Human) | PR |
| Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
| Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
| Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
| Q9BRR0 | ZKSCAN3 | Zinc finger protein with KRAB and SCAN domains 3 | Homo sapiens (Human) | PR |
| Q6NSZ9 | ZSCAN25 | Zinc finger and SCAN domain-containing protein 25 | Homo sapiens (Human) | PR |
| P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
| Q63HK3 | ZKSCAN2 | Zinc finger protein with KRAB and SCAN domains 2 | Homo sapiens (Human) | PR |
| Q15776 | ZKSCAN8 | Zinc finger protein with KRAB and SCAN domains 8 | Homo sapiens (Human) | PR |
| O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
| Q61164 | Ctcf | Transcriptional repressor CTCF | Mus musculus (Mouse) | PR |
| Q810A1 | Znf18 | Zinc finger protein 18 | Mus musculus (Mouse) | PR |
| Q8BGS3 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Mus musculus (Mouse) | PR |
| Q00899 | Yy1 | Transcriptional repressor protein YY1 | Mus musculus (Mouse) | PR |
| P41183 | Bcl6 | B-cell lymphoma 6 protein homolog | Mus musculus (Mouse) | PR |
| Q9DAI4 | Zbtb43 | Zinc finger and BTB domain-containing protein 43 | Mus musculus (Mouse) | PR |
| O70237 | Gfi1b | Zinc finger protein Gfi-1b | Mus musculus (Mouse) | PR |
| Q99KZ6 | Znf639 | Zinc finger protein 639 | Mus musculus (Mouse) | PR |
| Q9Z1D9 | Znf394 | Zinc finger protein 394 | Mus musculus (Mouse) | PR |
| Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | Mus musculus (Mouse) | PR |
| P43300 | Egr3 | Early growth response protein 3 | Mus musculus (Mouse) | PR |
| Q9DAU9 | Znf654 | Zinc finger protein 654 | Mus musculus (Mouse) | PR |
| Q9R1Y5 | Hic1 | Hypermethylated in cancer 1 protein | Mus musculus (Mouse) | PR |
| Q8R0T2 | Znf768 | Zinc finger protein 768 | Mus musculus (Mouse) | PR |
| Q9WVG7 | Osr1 | Protein odd-skipped-related 1 | Mus musculus (Mouse) | PR |
| Q8BI73 | Znf775 | Zinc finger protein 775 | Mus musculus (Mouse) | PR |
| Q8VCZ7 | Zbtb7c | Zinc finger and BTB domain-containing protein 7C | Mus musculus (Mouse) | PR |
| Q91VN1 | Znf24 | Zinc finger protein 24 | Mus musculus (Mouse) | PR |
| Q9DB38 | Znf580 | Zinc finger protein 580 | Mus musculus (Mouse) | PR |
| A7KBS4 | Zscan4d | Zinc finger and SCAN domain containing protein 4D | Mus musculus (Mouse) | PR |
| Q91VW9 | Zkscan3 | Zinc finger protein with KRAB and SCAN domains 3 | Mus musculus (Mouse) | PR |
| P10925 | Zfy1 | Zinc finger Y-chromosomal protein 1 | Mus musculus (Mouse) | PR |
| P08046 | Egr1 | Early growth response protein 1 | Mus musculus (Mouse) | PR |
| Q3TTC2 | Yy2 | Transcription factor YY2 | Mus musculus (Mouse) | PR |
| Q3UTQ7 | Prdm10 | PR domain zinc finger protein 10 | Mus musculus (Mouse) | PR |
| Q6P3Y5 | Znf280c | Zinc finger protein 280C | Mus musculus (Mouse) | PR |
| Q9ERU3 | Znf22 | Zinc finger protein 22 | Mus musculus (Mouse) | PR |
| Q8VIG1 | Rest | RE1-silencing transcription factor | Mus musculus (Mouse) | PR |
| Q9Z1D8 | Zkscan5 | Zinc finger protein with KRAB and SCAN domains 5 | Mus musculus (Mouse) | PR |
| Q8BID6 | Zbtb46 | Zinc finger and BTB domain-containing protein 46 | Mus musculus (Mouse) | PR |
| P17012 | Zfx | Zinc finger X-chromosomal protein | Mus musculus (Mouse) | PR |
| Q9WUK6 | Zbtb18 | Zinc finger and BTB domain-containing protein 18 | Mus musculus (Mouse) | PR |
| O35738 | Klf12 | Krueppel-like factor 12 | Mus musculus (Mouse) | PR |
| B2RXC5 | Znf382 | Zinc finger protein 382 | Mus musculus (Mouse) | PR |
| O08900 | Ikzf3 | Zinc finger protein Aiolos | Mus musculus (Mouse) | PR |
| Q5DU09 | Znf652 | Zinc finger protein 652 | Mus musculus (Mouse) | PR |
| Q5RJ54 | Zscan26 | Zinc finger and SCAN domain-containing protein 26 | Mus musculus (Mouse) | PR |
| Q8BLM0 | Klf8 | Krueppel-like factor 8 | Mus musculus (Mouse) | PR |
| Q99JB0 | Klf7 | Krueppel-like factor 7 | Mus musculus (Mouse) | PR |
| Q8R0A2 | Zbtb44 | Zinc finger and BTB domain-containing protein 44 | Mus musculus (Mouse) | PR |
| P20662 | Zfy2 | Zinc finger Y-chromosomal protein 2 | Mus musculus (Mouse) | PR |
| Q80VJ6 | Zscan4c | Zinc finger and SCAN domain containing protein 4C | Mus musculus (Mouse) | PR |
| Q3URS2 | Zscan4f | Zinc finger and SCAN domain containing protein 4F | Mus musculus (Mouse) | PR |
| Q60980 | Klf3 | Krueppel-like factor 3 | Mus musculus (Mouse) | PR |
| Q8K3J5 | Znf131 | Zinc finger protein 131 | Mus musculus (Mouse) | PR |
| Q9Z2K3 | Znf394 | Zinc finger protein 394 | Rattus norvegicus (Rat) | PR |
| Q642B9 | Znf18 | Zinc finger protein 18 | Rattus norvegicus (Rat) | PR |
| B0K011 | Osr1 | Protein odd-skipped-related 1 | Rattus norvegicus (Rat) | PR |
| D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | Rattus norvegicus (Rat) | PR |
| B1WBU4 | Zbtb8a | Zinc finger and BTB domain-containing protein 8A | Rattus norvegicus (Rat) | PR |
| Q7TNK3 | Znf24 | Zinc finger protein 24 | Rattus norvegicus (Rat) | PR |
| O35819 | Klf6 | Krueppel-like factor 6 | Rattus norvegicus (Rat) | PR |
| Q9R1D1 | Ctcf | Transcriptional repressor CTCF | Rattus norvegicus (Rat) | PR |
| P43301 | Egr3 | Early growth response protein 3 | Rattus norvegicus (Rat) | PR |
| P08154 | Egr1 | Early growth response protein 1 | Rattus norvegicus (Rat) | PR |
| A0JPL0 | Znf382 | Zinc finger protein 382 | Rattus norvegicus (Rat) | PR |
| Q4KLI1 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Rattus norvegicus (Rat) | PR |
| A1L1J6 | Znf652 | Zinc finger protein 652 | Rattus norvegicus (Rat) | PR |
| Q9SHD0 | ZAT4 | Zinc finger protein ZAT4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0P4X6 | zbtb44 | Zinc finger and BTB domain-containing protein 44 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A4II20 | egr1 | Early growth response protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6P882 | zbtb8a.2 | Zinc finger and BTB domain-containing protein 8A.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q567C6 | znf367 | Zinc finger protein 367 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A7Y7X5 | znf711 | Zinc finger protein 711 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAANCTSSWS | LGESCNSPGS | EPPQSMPSPA | TQLGNHDSDP | ETCHVNFRMF | SCPKESDPIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALRKLTELCH | LWLRPDLHTK | EQILDMLVME | QFMISMPQEL | QVLVMMNGVQ | SCKDLEDLLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NNRRPKKWSV | VSFLGKEYLM | QESDVEMAEA | PASVRDDPRH | VSSQRTSSVN | QMCPEEGQAS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QELQTLPRVP | ALFRRQEEDF | LLPETTVMKG | DPKALRPKPT | LEKDLEEDRE | ENPGLTSPEP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QLPNSPTGVV | GAKEGKEPQK | RASVENVDAD | TPSACVVERE | ASTHSGSRGD | ALNLRGLKRS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KPDATSISQE | EPQGEATPVG | NRESPGQAEI | NPVHSPGPAG | PVSHPSGQEV | KELLPFACEV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CGKRFKYRGK | LAVHTRSHTG | ERLFQCNLCG | KRFMQRIGLQ | FHQRTHTGER | PYTCDICQKQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FTQKSYLKCH | KRSHTGEKPF | ECKDCKKVFT | YKANLKEHQR | IHSGEKPHKC | SKCPRAFGRP |
| 490 | |||||
| ATLRRHQKTH | REATSQ |