Q15020
PR
Gene name |
SART3 |
Protein name |
Squamous cell carcinoma antigen recognized by T-cells 3 |
Names |
SART-3, Tat-interacting protein of 110 kDa, Tip110, p110 nuclear RNA-binding protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9733 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
10 structures for Q15020
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DO4 | NMR | - | A | 791-877 | PDB |
| 5CTQ | X-ray | 260 A | A/B/C/D | 94-611 | PDB |
| 5CTR | X-ray | 301 A | A/B | 278-611 | PDB |
| 5CTT | X-ray | 170 A | B | 601-649 | PDB |
| 5JJW | X-ray | 301 A | A | 280-578 | PDB |
| 5JJX | X-ray | 200 A | A | 81-393 | PDB |
| 5JPZ | X-ray | 304 A | A/B | 96-574 | PDB |
| 7XX8 | NMR | - | A | 697-786 | PDB |
| 7XX9 | NMR | - | A | 798-877 | PDB |
| AF-Q15020-F1 | Predicted | AlphaFoldDB |
703 variants for Q15020
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs118203954 VAR_038683 RCV000000897 CA114574 |
591 | V>M | Porokeratosis 3, disseminated superficial actinic type found in a patient with disseminated superficial actinic porokeratosis; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs995082868 CA243318713 |
2 | A>V | No |
ClinGen Ensembl |
|
|
rs1209464207 CA386427749 |
3 | T>A | No |
ClinGen TOPMed |
|
|
CA6768634 rs144184146 |
4 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768631 rs750527096 |
5 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386427707 rs1410178813 |
5 | A>V | No |
ClinGen gnomAD |
|
|
rs776663380 CA6768628 |
7 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1166113039 CA386427672 |
7 | T>S | No |
ClinGen gnomAD |
|
|
rs181130067 CA6768626 |
8 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181130067 CA243318612 |
8 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243318599 rs375116692 |
9 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386427629 rs1237255893 |
9 | A>V | No |
ClinGen gnomAD |
|
|
rs774473009 CA6768625 |
10 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs553272154 CA6768624 |
10 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386427579 rs777373560 |
12 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6768622 rs777373560 |
12 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA243318569 rs1051606486 |
13 | E>G | No |
ClinGen Ensembl |
|
|
rs139501952 CA6768621 |
13 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386427549 rs934055359 |
14 | A>D | No |
ClinGen gnomAD |
|
|
rs934055359 CA243318567 |
14 | A>V | No |
ClinGen gnomAD |
|
|
CA6768620 rs371102614 |
15 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386427532 rs1250473547 |
15 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1264880 rs1442680743 CA386427511 |
16 | S>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386427523 rs1283315029 |
16 | S>P | No |
ClinGen gnomAD |
|
|
CA386427487 rs1305834452 |
18 | A>S | No |
ClinGen gnomAD |
|
|
CA6768618 rs755399615 |
19 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768616 rs780350227 |
20 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79057601 CA6768617 |
20 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1404096489 CA386427442 |
21 | K>N | No |
ClinGen gnomAD |
|
|
CA6768615 rs551716700 |
22 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6768614 rs2072579 VAR_038802 |
23 | D>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386427417 rs1159446346 |
23 | D>V | No |
ClinGen gnomAD |
|
|
rs765376040 CA6768613 |
24 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA6768612 rs761786884 |
25 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs139923569 CA6768611 |
26 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386427369 rs1181692792 |
26 | E>K | No |
ClinGen gnomAD |
|
|
rs866653084 CA243318478 |
27 | D>A | No |
ClinGen gnomAD |
|
|
CA243318466 rs904244085 |
28 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM3792146 CA243318470 rs578149175 COSM3792147 |
28 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs764193702 CA6768610 |
29 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1355211334 CA386427290 |
30 | K>R | No |
ClinGen gnomAD |
|
|
CA386427243 rs1592784549 |
32 | A>D | No |
ClinGen Ensembl |
|
|
rs759454532 CA386427251 |
32 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs759454532 CA6768609 |
32 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6768607 rs770808661 |
33 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6768608 rs770808661 |
33 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA243318457 rs770808661 |
33 | R>T | No |
ClinGen ExAC gnomAD |
|
|
COSM374117 rs1565871444 CA386427205 |
35 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA243318432 rs1049430181 |
35 | R>K | No |
ClinGen TOPMed |
|
|
CA243318411 rs1063936 |
36 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243318406 rs17846313 |
37 | K>E | No |
ClinGen Ensembl |
|
|
rs1592784489 CA386427135 |
38 | V>G | No |
ClinGen Ensembl |
|
|
CA6768604 rs769399138 |
40 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768603 rs141693723 |
41 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386427113 rs141693723 |
41 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243318380 rs992912958 |
42 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA243318378 rs992912958 |
42 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6768601 rs768273511 |
43 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746627165 CA6768600 |
44 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386427083 rs1437120889 |
44 | A>V | No |
ClinGen TOPMed |
|
|
CA386427071 rs1327587316 |
45 | A>V | No |
ClinGen TOPMed |
|
|
rs1431737103 CA386427062 |
46 | A>E | No |
ClinGen gnomAD |
|
|
rs1189502055 CA386427051 |
47 | T>I | No |
ClinGen gnomAD |
|
|
CA6768597 rs746449043 |
49 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs541455273 CA243318363 |
50 | T>I | No |
ClinGen gnomAD |
|
|
rs541455273 CA386427018 |
50 | T>N | No |
ClinGen gnomAD |
|
|
rs757399095 CA6768595 |
51 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034534802 CA243318356 |
53 | P>L | No |
ClinGen Ensembl |
|
|
rs753840738 CA6768594 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs375651463 CA243318342 |
56 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs963213812 CA243318346 |
56 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6768593 rs764219347 |
57 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs865797962 CA243318330 |
58 | Q>* | No |
ClinGen Ensembl |
|
|
rs199769409 CA6768592 |
58 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386426824 rs1437883226 |
60 | E>K | No |
ClinGen gnomAD |
|
|
rs752899761 CA386426793 |
61 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs752899761 CA6768591 |
61 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1470520387 CA386426728 |
62 | V>M | No |
ClinGen gnomAD |
|
|
CA386426618 rs773264444 CA6768588 |
65 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs776038802 CA6768586 |
66 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6768587 rs765050499 |
66 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243318256 rs764915173 |
66 | D>H | No |
ClinGen Ensembl |
|
|
rs746680613 CA6768583 |
67 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6768584 rs746680613 |
67 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs759395628 CA243318206 |
68 | D>A | No |
ClinGen TOPMed |
|
|
rs779524430 CA6768579 |
71 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768580 rs746188229 |
71 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768575 rs756203601 |
72 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs757728391 CA6768578 |
72 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371662996 CA6768576 |
72 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371662996 CA6768577 |
72 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757728391 CA243318192 |
72 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273092906 CA386426402 |
73 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1273092906 CA386426399 |
73 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1166986994 CA386426380 |
74 | S>F | No |
ClinGen TOPMed |
|
|
CA386426393 rs1229981142 |
74 | S>P | No |
ClinGen gnomAD |
|
|
CA6768574 rs767844746 |
75 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767844746 CA6768573 |
75 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750159483 CA6768571 |
76 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs765030552 CA6768570 |
76 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6768569 rs761662580 |
77 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6768568 rs771158811 COSM430265 |
79 | S>F | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA386426294 rs1355337507 |
79 | S>P | No |
ClinGen gnomAD |
|
|
CA6768564 rs771692147 |
80 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6768565 rs771692147 |
80 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA243318125 rs769047915 |
81 | G>R | No |
ClinGen TOPMed |
|
|
CA6768563 rs745477498 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA243318124 rs760949914 |
82 | E>K | No |
ClinGen Ensembl |
|
|
rs1257997883 CA386426180 |
83 | Y>D | No |
ClinGen gnomAD |
|
|
CA386426183 rs1257997883 |
83 | Y>H | No |
ClinGen gnomAD |
|
|
CA386426144 rs1411299860 |
84 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386426149 rs1411299860 |
84 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6768560 rs367935579 |
86 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371809428 CA6768562 |
86 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770060910 CA6768558 |
89 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386426018 rs770060910 |
89 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748204090 CA6768557 |
90 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs781611651 CA6768556 |
91 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386425918 rs1247330723 |
92 | E>* | No |
ClinGen gnomAD |
|
|
rs1324092908 CA386425866 |
94 | N>S | No |
ClinGen gnomAD |
|
|
rs755175271 CA6768555 |
95 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs757065790 CA6768552 |
98 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6768551 rs753843655 |
101 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1024917129 CA386425650 |
103 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1024917129 CA243318065 |
103 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751057291 CA6768510 |
107 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6768511 rs114171925 |
107 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6768509 rs144486219 |
108 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768508 rs758154672 |
108 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768506 rs762265733 |
109 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762265733 CA6768505 |
109 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777045869 CA6768504 |
110 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386424515 rs1459664736 |
112 | Y>H | No |
ClinGen TOPMed |
|
|
CA6768503 rs576034988 |
113 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386424487 rs1420348431 |
115 | H>Q | No |
ClinGen TOPMed |
|
|
CA6768501 rs775674433 |
117 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1206308636 CA386424466 |
118 | L>F | No |
ClinGen gnomAD |
|
|
rs1284506410 CA386424464 |
119 | I>V | No |
ClinGen gnomAD |
|
|
rs774541010 CA386424439 |
123 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774541010 CA6768498 |
123 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs545330165 CA6768497 |
129 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1049781769 CA243311741 |
130 | K>E | No |
ClinGen TOPMed |
|
|
CA6768494 rs754965542 |
131 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6768493 rs746879265 |
132 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs779618466 CA6768492 |
135 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368289499 CA386424358 |
135 | R>H | No |
ClinGen gnomAD |
|
|
rs201128004 CA386424356 |
136 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768491 rs201128004 |
136 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408783905 CA386424346 |
137 | K>R | No |
ClinGen TOPMed |
|
|
rs1484195280 CA386424338 |
138 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386424297 rs1249712413 |
143 | P>L | No |
ClinGen gnomAD |
|
|
CA386424295 rs1437104632 |
144 | L>V | No |
ClinGen gnomAD |
|
|
rs922578813 CA243311717 |
145 | T>I | No |
ClinGen TOPMed |
|
|
CA6768461 rs751660225 |
154 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1189551659 CA386444087 |
154 | H>R | No |
ClinGen gnomAD |
|
|
CA6768459 rs763239806 |
157 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768564913 CA6768457 |
159 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1184932135 CA386444052 |
159 | M>V | No |
ClinGen TOPMed |
|
|
CA386444045 rs1266062375 |
160 | A>T | No |
ClinGen gnomAD |
|
|
rs147125282 CA386444034 |
161 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243356786 rs138654876 |
161 | Q>R | No |
ClinGen ESP |
|
|
CA386444003 rs1216985806 |
166 | R>K | No |
ClinGen gnomAD |
|
|
rs562057224 CA6768453 |
169 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528557929 CA6768450 |
170 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777283260 CA6768449 |
171 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753034077 CA6768447 |
175 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751997129 CA6768445 |
177 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751997129 CA6768444 |
177 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925762211 CA243356750 |
180 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6768443 rs766457848 |
181 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6768442 rs762927591 |
182 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA386443875 rs1301073028 |
183 | P>A | No |
ClinGen TOPMed |
|
|
CA386443870 rs1311097698 |
184 | N>H | No |
ClinGen gnomAD |
|
|
rs1347098020 CA386443867 |
184 | N>S | No |
ClinGen TOPMed |
|
|
rs774467179 CA6768416 |
185 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386443861 rs1232891231 COSM3703838 |
185 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1445840939 CA386443856 |
186 | W>R | No |
ClinGen gnomAD |
|
|
CA386443830 rs1290230592 |
189 | Y>C | No |
ClinGen gnomAD |
|
|
rs1274831598 CA386443825 |
190 | G>R | No |
ClinGen TOPMed |
|
|
rs1297508834 CA386443776 |
197 | I>T | No |
ClinGen gnomAD |
|
|
rs1458391371 CA386443770 |
198 | G>D | No |
ClinGen gnomAD |
|
|
COSM1742377 rs1203360641 CA386443765 |
199 | Q>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6768413 rs200422511 |
206 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768412 rs772625810 |
207 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768409 rs776249648 |
209 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768407 rs747354165 |
211 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386443679 rs1369071839 |
212 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6768405 rs758860539 |
214 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746320206 CA6768404 |
215 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166390521 CA386443662 |
215 | S>P | No |
ClinGen gnomAD |
|
|
rs757404064 CA6768402 |
216 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386443651 rs1335224971 |
217 | V>F | No |
ClinGen gnomAD |
|
|
CA386443653 rs1335224971 |
217 | V>I | No |
ClinGen gnomAD |
|
|
CA386443642 rs1302141984 |
218 | G>V | No |
ClinGen gnomAD |
|
|
CA243355363 rs151072438 |
221 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764383100 CA6768400 |
223 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460754737 CA386443600 |
224 | G>V | No |
ClinGen gnomAD |
|
|
COSM1706229 rs751331424 CA6768398 |
226 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6768396 rs762800457 |
231 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA6768395 rs750316226 |
232 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1435368576 CA386443550 |
232 | R>Q | No |
ClinGen gnomAD |
|
|
rs1271917092 CA386443542 |
233 | E>D | No |
ClinGen TOPMed |
|
|
CA386443543 rs1228060704 |
233 | E>V | No |
ClinGen TOPMed |
|
|
rs898117095 CA243355319 |
234 | F>S | No |
ClinGen TOPMed |
|
|
rs764710358 CA6768394 |
235 | E>G | No |
ClinGen ExAC |
|
|
CA6768393 rs761307530 |
236 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1193358474 CA386443521 |
236 | S>R | No |
ClinGen gnomAD |
|
|
rs760281519 CA6768392 |
237 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768390 rs760281519 |
237 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760281519 CA6768391 |
237 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243355294 rs760351499 |
238 | I>M | No |
ClinGen gnomAD |
|
|
rs1592768952 CA386443512 |
238 | I>T | No |
ClinGen Ensembl |
|
|
rs374234206 CA6768387 |
239 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768388 rs374234206 |
239 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386443496 rs1256595718 |
241 | A>S | No |
ClinGen gnomAD |
|
|
CA6768386 rs779473146 |
242 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768384 rs371173853 |
243 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768383 rs371173853 |
243 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768385 rs771178583 |
243 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768357 rs560200740 |
244 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386443324 rs1205970025 |
248 | H>R | No |
ClinGen gnomAD |
|
|
rs1256811751 CA386443326 |
248 | H>Y | No |
ClinGen gnomAD |
|
|
CA6768356 rs145680117 |
249 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768354 rs140553109 |
252 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768355 rs752334296 |
252 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768353 rs759058288 |
253 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284629757 CA386443288 |
254 | Q>R | No |
ClinGen gnomAD |
|
|
rs774883843 CA6768352 |
256 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386442917 rs1403135654 |
263 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA243354140 rs936223309 |
263 | E>G | No |
ClinGen TOPMed |
|
|
rs754659926 CA6768335 |
264 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768334 rs751196967 |
268 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6768332 rs763403978 |
270 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6768330 rs765752349 |
274 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158073199 CA386442829 |
276 | P>S | No |
ClinGen gnomAD |
|
|
rs146774269 CA6768328 |
277 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386442814 rs1376981251 |
278 | P>L | No |
ClinGen TOPMed |
|
|
CA6768327 rs768563451 |
283 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs747290989 CA6768326 |
284 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386442768 rs1318359352 |
285 | Y>C | No |
ClinGen gnomAD |
|
|
rs1281448757 CA386442741 |
289 | L>V | No |
ClinGen gnomAD |
|
|
CA6768325 rs775688311 |
295 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768324 rs770756041 |
297 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs374720749 CA6768322 |
298 | Y>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6768323 rs749065512 |
298 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA386442657 rs1433076232 |
301 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs769798505 CA6768321 |
302 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6768291 rs754411489 |
303 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1179456144 CA386442330 |
308 | P>Q | No |
ClinGen gnomAD |
|
|
CA6768289 rs372317540 |
309 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6768288 rs752809227 |
311 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386442276 rs1351195807 |
312 | E>D | No |
ClinGen gnomAD |
|
|
CA386442235 rs1593240669 |
315 | A>V | No |
ClinGen Ensembl |
|
|
CA6768287 rs767514921 |
316 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs368683159 CA6768283 |
318 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768284 rs368683159 |
318 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776678442 CA6768282 |
321 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA386442142 rs1309331917 |
322 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386442140 rs1309331917 |
322 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386442093 rs1297350690 |
325 | D>A | No |
ClinGen gnomAD |
|
|
CA386442098 rs1288042910 |
325 | D>N | No |
ClinGen Ensembl |
|
|
rs201719343 CA243351882 |
327 | A>D | No |
ClinGen 1000Genomes TOPMed |
|
|
rs201719343 CA243351878 |
327 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA243351874 rs774383509 |
328 | R>C | No |
ClinGen Ensembl |
|
|
rs746902222 CA6768279 |
328 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768278 rs775154019 |
329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386442029 rs1357230141 |
330 | Q>R | No |
ClinGen TOPMed |
|
|
rs771695810 CA6768277 |
331 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs909027455 CA243351858 |
331 | L>S | No |
ClinGen Ensembl |
|
|
rs1308297093 CA386442001 |
333 | F>S | No |
ClinGen TOPMed |
|
|
rs778399911 CA6768275 |
335 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243351835 rs375395577 |
335 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs749640007 CA6768273 |
336 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA243351826 rs1007778556 |
337 | L>V | No |
ClinGen TOPMed |
|
|
CA6768270 rs753142258 |
339 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1593240565 CA386441963 |
340 | N>H | No |
ClinGen Ensembl |
|
|
rs755043956 CA6768268 |
344 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA386441907 rs149104453 |
346 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751844673 CA6768267 |
349 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751844673 CA386441870 |
349 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386441825 rs1275583287 |
352 | Q>P | No |
ClinGen TOPMed |
|
|
rs766487226 CA6768266 |
353 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796086845 CA243351291 |
356 | R>Q | No |
ClinGen TOPMed |
|
|
CA6768252 rs756454189 |
360 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs748718221 CA6768251 |
362 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312964455 CA386441568 |
366 | S>F | No |
ClinGen gnomAD |
|
|
CA6768249 rs755133263 |
368 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781640278 CA6768250 |
368 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779663628 CA6768247 |
370 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386441523 rs779663628 |
370 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370748782 CA6768246 |
370 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs779663628 CA243351248 |
370 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191290503 CA386441516 |
371 | A>T | No |
ClinGen gnomAD |
|
|
CA6768244 rs764047933 |
372 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266763327 CA386441453 |
375 | C>F | No |
ClinGen TOPMed |
|
|
CA6768242 rs775620148 |
377 | W>G | No |
ClinGen ExAC TOPMed |
|
|
CA386441423 rs775620148 |
377 | W>R | No |
ClinGen ExAC TOPMed |
|
|
CA243351202 rs1046306553 |
378 | T>I | No |
ClinGen TOPMed |
|
|
rs934756013 CA243351200 |
381 | L>S | No |
ClinGen Ensembl |
|
|
CA386441395 rs1213137932 |
381 | L>V | No |
ClinGen gnomAD |
|
|
CA6768240 rs767587099 |
383 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs757900725 CA6768238 |
384 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs377513270 CA6768237 |
384 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757900725 CA6768239 |
384 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA386441362 rs1224702548 |
386 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs772843943 CA6768234 |
389 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6768233 rs374321912 |
392 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386441294 rs1428212124 |
396 | H>D | No |
ClinGen TOPMed |
|
|
rs144297601 CA6768232 |
399 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322195555 CA386441240 |
402 | T>N | No |
ClinGen TOPMed |
|
|
rs767357985 CA386441231 |
403 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759410185 CA6768219 |
404 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386441221 rs1189035066 |
405 | K>E | No |
ClinGen TOPMed |
|
|
rs1417169766 CA386441212 |
406 | A>S | No |
ClinGen gnomAD |
|
|
CA6768217 rs530361833 |
410 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386441171 rs1234563591 |
412 | I>N | No |
ClinGen gnomAD |
|
|
CA6768216 rs762491188 |
413 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA386441161 rs1457138134 |
413 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386441138 rs1358437890 |
417 | Y>N | No |
ClinGen gnomAD |
|
|
CA6768215 rs772899105 |
418 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768214 rs539860375 |
424 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs776984087 CA6768212 |
425 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1565861553 CA386441076 |
425 | L>R | No |
ClinGen Ensembl |
|
|
CA386441035 rs1462377465 |
431 | R>S | No |
ClinGen TOPMed |
|
|
CA386441029 rs1167773786 |
432 | V>A | No |
ClinGen TOPMed |
|
|
CA386441027 rs1278269137 |
433 | D>N | No |
ClinGen gnomAD |
|
|
rs1240133319 CA386441022 |
433 | D>V | No |
ClinGen gnomAD |
|
|
rs1392967913 CA386441011 |
435 | K>Q | No |
ClinGen TOPMed |
|
|
rs775670740 CA6768187 |
437 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA386440925 rs1329673478 |
445 | L>M | No |
ClinGen TOPMed |
|
|
CA6768182 rs368473714 |
448 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200546168 CA6768183 |
448 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368473714 CA6768181 |
448 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6768180 rs754775627 |
449 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6768179 rs199758514 |
451 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779672510 CA6768178 |
451 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758334519 CA6768177 |
455 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6768176 rs750302635 |
456 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA243349859 rs1045972089 |
458 | Q>R | No |
ClinGen TOPMed |
|
|
rs1014494023 CA6768174 |
460 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6768172 rs531634983 |
463 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531634983 CA6768171 |
463 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs572464941 CA6768151 |
465 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386440703 rs1162109283 |
467 | S>N | No |
ClinGen gnomAD |
|
|
rs371509108 CA6768150 |
467 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6768149 rs752274957 |
468 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1409397908 CA386440671 |
469 | D>E | No |
ClinGen gnomAD |
|
|
CA243349633 rs1004967211 |
469 | D>G | No |
ClinGen Ensembl |
|
|
rs1179509275 CA386440661 |
470 | P>L | No |
ClinGen gnomAD |
|
|
rs768057518 CA6768148 |
471 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6768146 rs138907360 CA6768144 |
473 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138907360 CA6768145 |
473 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773348097 CA6768143 CA386440576 |
476 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6768142 rs769706576 |
477 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA386440527 rs1317636626 |
480 | R>K | No |
ClinGen gnomAD |
|
|
CA386440515 rs1307592320 |
481 | I>V | No |
ClinGen gnomAD |
|
|
CA6768117 rs770615859 |
484 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1418355266 CA386440013 |
486 | C>Y | No |
ClinGen gnomAD |
|
|
CA386440004 rs1362573332 |
487 | N>S | No |
ClinGen TOPMed |
|
|
CA6768116 rs749311008 |
489 | M>V | No |
ClinGen ExAC |
|
|
rs1174861841 CA386439977 |
490 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1360483020 CA386439981 |
490 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386439972 rs1436945987 |
491 | K>R | No |
ClinGen gnomAD |
|
|
CA6768115 rs777536264 |
492 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386439962 rs1377925264 |
493 | R>W | No |
ClinGen TOPMed |
|
|
rs769399064 CA6768114 |
499 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs747637555 CA6768113 |
501 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386439882 rs1191629810 |
504 | N>S | No |
ClinGen gnomAD |
|
|
CA6768111 rs376169245 |
506 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1038195934 CA243348879 |
506 | K>T | No |
ClinGen Ensembl |
|
|
rs1355936115 CA386439858 |
508 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6768109 rs780624610 |
508 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768108 rs201521980 |
509 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386439816 rs143342050 |
513 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386439813 rs1593238152 |
514 | Y>D | No |
ClinGen Ensembl |
|
|
rs765685425 CA6768106 |
515 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144381891 CA243346725 |
521 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA6768087 rs148367950 |
521 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754328833 CA6768086 |
525 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565859637 CA386439576 |
528 | R>Q | No |
ClinGen Ensembl |
|
|
rs764223051 CA6768085 |
528 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs888346972 CA243346714 |
530 | A>D | No |
ClinGen TOPMed |
|
|
CA6768083 rs549740720 |
532 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759767239 CA6768081 |
533 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768079 rs765026452 |
535 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs928091690 CA243346648 |
536 | Q>H | No |
ClinGen TOPMed |
|
|
rs912728618 CA243346647 |
539 | S>T | No |
ClinGen gnomAD |
|
|
rs1239850012 CA386439360 |
545 | V>A | No |
ClinGen gnomAD |
|
|
CA386439365 rs1347889110 |
545 | V>I | No |
ClinGen TOPMed |
|
|
CA386439300 rs1457053261 |
550 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1457053261 CA386439296 |
550 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746495564 CA6768075 |
551 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs775024280 CA6768074 |
555 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749671232 CA6768049 |
557 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778076011 CA6768048 |
558 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386438197 rs1328103033 |
560 | E>Q | No |
ClinGen TOPMed |
|
|
rs781189937 CA6768046 |
562 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs781189937 CA6768045 |
562 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs755082369 CA386438103 |
564 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6768044 rs755082369 |
564 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386438071 rs1489006681 |
565 | A>G | No |
ClinGen gnomAD |
|
|
CA386438066 rs1284473986 |
566 | V>I | No |
ClinGen gnomAD |
|
|
CA386438064 rs1284473986 |
566 | V>L | No |
ClinGen gnomAD |
|
|
CA386438049 rs1216594337 |
567 | Q>E | No |
ClinGen gnomAD |
|
|
CA243343832 rs914753856 |
569 | T>I | No |
ClinGen Ensembl |
|
|
rs751771524 CA6768043 |
571 | T>N | No |
ClinGen ExAC |
|
|
rs1349043518 CA386437940 |
572 | R>Q | No |
ClinGen gnomAD |
|
|
rs1388585420 CA386437915 |
574 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6768042 rs780300810 |
574 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758645203 CA6768041 |
575 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6768040 rs753689410 |
575 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6768038 rs200855655 |
577 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338588392 CA386437764 |
581 | M>I | No |
ClinGen gnomAD |
|
|
CA386437773 rs1401892216 |
581 | M>T | No |
ClinGen gnomAD |
|
|
CA386437761 rs1296257585 |
582 | K>E | No |
ClinGen gnomAD |
|
|
CA6768015 rs149622226 |
583 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483094296 CA386437528 |
585 | E>K | No |
ClinGen gnomAD |
|
|
rs1305846922 CA386437452 |
589 | A>T | No |
ClinGen gnomAD |
|
|
CA243342814 rs755725385 |
591 | V>A | No |
ClinGen Ensembl |
|
|
CA6768007 rs775769742 |
594 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs138271214 CA6768008 |
594 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386437377 rs1226543410 |
594 | E>V | No |
ClinGen gnomAD |
|
|
rs772272240 CA6768006 |
595 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6768004 rs746131168 |
598 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6768002 rs757369973 |
601 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779251233 CA6768003 |
601 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386226278 CA386437221 |
602 | K>N | No |
ClinGen gnomAD |
|
|
CA386437175 rs1351128478 |
604 | A>V | No |
ClinGen gnomAD |
|
|
rs1423808641 CA386437169 |
605 | R>Q | No |
ClinGen gnomAD |
|
|
CA6768001 rs368028059 |
605 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6768000 rs780780326 |
607 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1381295217 CA386437154 |
607 | E>K | No |
ClinGen gnomAD |
|
|
CA6767998 rs751489897 |
608 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767996 rs202055950 |
610 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6767995 rs202055950 |
610 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761333197 CA6767993 |
613 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199722318 CA386436982 |
615 | K>E | No |
ClinGen TOPMed |
|
|
rs1286426927 CA386436953 |
616 | K>R | No |
ClinGen gnomAD |
|
|
rs1374414413 CA386436913 |
618 | R>K | No |
ClinGen gnomAD |
|
|
CA386436888 rs1593234953 |
620 | P>A | No |
ClinGen Ensembl |
|
|
CA6767990 rs763468222 |
620 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs2287546 VAR_038684 CA6767989 |
621 | E>D | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs776107033 CA6767988 |
622 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs61936007 CA6767986 |
623 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368454974 CA6767985 |
623 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767983 rs745492668 |
624 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386436789 rs1435190840 |
625 | A>E | No |
ClinGen gnomAD |
|
|
rs34105009 CA243342646 |
625 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6767982 rs781103674 |
626 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6767981 rs768334480 |
627 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386436725 rs1549096 |
628 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs983436044 CA243342614 |
628 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6767979 rs779946782 |
629 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767977 rs371111141 |
632 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386436663 rs1233498499 |
632 | E>K | No |
ClinGen gnomAD |
|
|
rs1385688412 CA386436591 |
635 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1385688412 CA386436586 |
635 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6767975 rs756991733 |
639 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386436176 rs1290057603 |
640 | Q>P | No |
ClinGen TOPMed |
|
|
rs1327563059 CA386436172 |
641 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386436167 rs1334049266 |
641 | P>L | No |
ClinGen gnomAD |
|
|
CA6767960 rs745748830 |
642 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144951928 CA6767959 |
644 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777037769 CA243338867 |
647 | V>A | No |
ClinGen Ensembl |
|
|
CA6767956 rs777311922 |
648 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6767954 rs140926080 |
649 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386436107 rs1384449519 |
651 | I>V | No |
ClinGen TOPMed |
|
|
rs552177489 CA6767952 |
652 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762923602 CA6767949 |
653 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs373973412 CA6767950 |
653 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767948 rs181235280 |
654 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386436067 rs1358037944 |
657 | T>R | No |
ClinGen TOPMed |
|
|
CA6767947 rs765475446 |
658 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767946 rs761959560 |
659 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6767945 rs771849506 |
660 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6767944 rs771849506 |
660 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs546423573 CA243338766 |
661 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1334266332 CA386436046 |
661 | E>K | No |
ClinGen TOPMed |
|
|
rs546423573 CA6767943 |
661 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs770851443 CA6767942 |
662 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6767941 rs770851443 |
662 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA386436032 rs1402775597 |
664 | A>T | No |
ClinGen gnomAD |
|
|
CA243338755 rs200441297 |
665 | G>R | No |
ClinGen Ensembl |
|
|
CA243338752 rs897329625 |
665 | G>V | No |
ClinGen Ensembl |
|
|
CA6767940 rs748776048 |
666 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs111545527 CA243338707 |
666 | P>S | No |
ClinGen Ensembl |
|
|
rs375187647 CA6767937 |
667 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1313370959 CA386436012 |
668 | G>R | No |
ClinGen TOPMed |
|
|
CA6767935 rs755365964 |
670 | C>Y | No |
ClinGen ExAC |
|
|
rs1165671458 CA386435988 |
671 | A>G | No |
ClinGen gnomAD |
|
|
CA243338640 rs760934173 |
672 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6767930 rs374066826 |
673 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767931 rs142686490 |
673 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6767932 rs142686490 |
673 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436652949 CA386435960 |
676 | E>G | No |
ClinGen gnomAD |
|
|
rs1484601433 CA386435954 |
677 | P>A | No |
ClinGen gnomAD |
|
|
rs776801726 CA6767928 |
677 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1211251244 CA386435949 |
678 | P>R | No |
ClinGen gnomAD |
|
|
CA6767927 rs147813912 |
678 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6767924 rs370133415 |
679 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759271463 CA6767926 |
679 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767925 rs370133415 |
679 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1379595939 CA386435927 |
682 | K>Q | No |
ClinGen gnomAD |
|
|
rs1446414688 CA386435898 |
685 | A>E | No |
ClinGen gnomAD |
|
|
rs769420617 CA386435888 |
687 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs769420617 CA6767920 |
687 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs373073522 CA6767919 |
688 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243338536 rs914192749 |
691 | D>G | No |
ClinGen Ensembl |
|
|
CA386435856 rs1381943920 |
692 | M>I | No |
ClinGen gnomAD |
|
|
CA386435858 rs747365670 |
692 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747365670 CA6767916 |
692 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754632935 CA6767917 |
692 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs955829716 CA243338495 |
693 | P>R | No |
ClinGen Ensembl |
|
|
rs768390720 CA6767913 |
698 | D>N | No |
ClinGen ExAC |
|
|
CA6767912 rs765339952 |
700 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386435791 rs1449405489 |
702 | D>N | No |
ClinGen gnomAD |
|
|
rs1555204171 CA6767909 |
706 | V>I | No |
ClinGen Ensembl |
|
|
CA386435706 rs1447935411 |
714 | S>C | No |
ClinGen TOPMed |
|
|
CA386435708 rs1447935411 |
714 | S>R | No |
ClinGen TOPMed |
|
|
rs1311946921 CA386435694 |
715 | M>I | No |
ClinGen TOPMed |
|
|
rs115086075 CA6767906 |
720 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386435638 rs1565857001 |
723 | R>M | No |
ClinGen Ensembl |
|
|
rs149887580 CA386435635 |
724 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386435631 rs1302396783 |
724 | P>L | No |
ClinGen gnomAD |
|
|
rs149887580 CA6767903 |
724 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769479771 CA6767902 |
725 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767901 rs769479771 |
725 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386435611 rs1565856971 |
727 | E>D | No |
ClinGen Ensembl |
|
|
rs1296165693 CA386435618 |
727 | E>K | No |
ClinGen gnomAD |
|
|
rs1296165693 CA386435617 |
727 | E>Q | No |
ClinGen gnomAD |
|
|
rs1399722754 CA386435601 |
729 | C>Y | No |
ClinGen gnomAD |
|
|
CA386435577 rs1593231989 |
732 | V>G | No |
ClinGen Ensembl |
|
|
CA386435575 rs1425379983 |
733 | V>I | No |
ClinGen gnomAD |
|
|
rs1173988265 CA386435566 |
734 | Q>R | No |
ClinGen gnomAD |
|
|
rs761434593 CA6767900 |
736 | R>* | No |
ClinGen ExAC |
|
|
CA6767898 rs139013658 |
737 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767899 rs139013658 |
737 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150705183 CA6767897 |
738 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767895 rs780342985 |
742 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6767894 rs772481919 |
742 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386435514 rs772481919 |
742 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386435506 rs1443376332 |
744 | D>N | No |
ClinGen gnomAD |
|
|
CA6767893 rs746410852 |
746 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6767892 rs779417107 |
748 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767891 rs201032838 |
749 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1175131963 CA386435458 |
751 | V>M | No |
ClinGen TOPMed |
|
|
rs1219141822 CA386435433 |
754 | K>R | No |
ClinGen gnomAD |
|
|
CA6767888 rs756345310 |
756 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1468313606 CA386435397 |
759 | A>V | No |
ClinGen Ensembl |
|
|
CA386435389 rs1429701823 |
760 | L>R | No |
ClinGen gnomAD |
|
|
CA243338302 rs201880167 |
761 | Q>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs752957808 CA6767887 |
761 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767885 rs762789799 |
764 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767886 rs766124897 |
764 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750197100 CA6767884 |
766 | D>N | No |
ClinGen ExAC |
|
|
CA243338255 rs750197100 |
766 | D>Y | No |
ClinGen ExAC |
|
|
CA6767883 rs765300864 |
767 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA386435349 rs765300864 |
767 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779659299 CA243338238 |
767 | R>W | No |
ClinGen gnomAD |
|
|
CA386435346 rs1422050241 |
768 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6767882 rs761779463 |
768 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs776295212 CA6767881 |
769 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA243338190 rs961309295 |
770 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1461076370 CA386435307 |
774 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs369120627 CA6767879 |
776 | F>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374727642 CA6767878 |
779 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200559754 CA386435271 |
779 | P>S | No |
ClinGen gnomAD |
|
|
rs1213985835 CA386435265 |
780 | C>Y | No |
ClinGen gnomAD |
|
|
rs746263172 CA6767876 |
784 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1449979409 CA386435234 |
784 | S>N | No |
ClinGen gnomAD |
|
|
rs371736764 CA6767875 |
784 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA243338130 rs944209870 |
785 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6767874 rs771437019 |
787 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771437019 CA386435213 |
787 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA386435215 rs1466681934 |
787 | P>S | No |
ClinGen gnomAD |
|
|
rs777779466 CA6767872 |
788 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367859336 CA6767871 |
789 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752914543 CA6767870 |
790 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA386435159 rs1219251419 |
793 | R>S | No |
ClinGen gnomAD |
|
|
rs1459369298 CA386435155 |
794 | Y>C | No |
ClinGen gnomAD |
|
|
CA386435141 rs1301762689 |
796 | T>A | No |
ClinGen gnomAD |
|
|
rs971950871 CA243337732 |
797 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs781070503 CA6767851 |
798 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6767850 rs755267967 |
804 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6767849 rs747221085 |
807 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386435030 rs1197175183 |
813 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1456562902 CA386435025 |
814 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs778919968 CA6767848 |
815 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6767846 rs374432075 |
820 | I>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA386434971 rs1218469260 |
821 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1218469260 CA386434972 |
821 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755938014 CA6767844 |
822 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767842 rs766919623 |
827 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386434921 rs1470645112 |
829 | D>H | No |
ClinGen gnomAD |
|
|
CA386434912 rs1323193834 |
830 | L>F | No |
ClinGen Ensembl |
|
|
CA386434901 rs1313433452 |
832 | L>M | No |
ClinGen gnomAD |
|
|
CA386434898 rs1280870140 |
832 | L>P | No |
ClinGen gnomAD |
|
|
rs759248577 CA6767841 |
833 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6767840 rs773959503 |
834 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6767839 rs766776966 |
835 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763332490 CA386434879 |
836 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360428152 CA386434878 |
836 | R>Q | No |
ClinGen TOPMed |
|
|
CA6767838 rs763332490 |
836 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386434874 rs1289655726 |
837 | A>D | No |
ClinGen TOPMed |
|
|
rs773412711 CA243337634 |
837 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773412711 CA6767837 |
837 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386434868 rs1467826783 |
838 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1303642342 CA386434870 |
838 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6767836 rs770342282 |
840 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs967499754 CA243336794 |
842 | G>D | No |
ClinGen gnomAD |
|
|
rs141976625 CA6767818 |
845 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767819 rs141976625 |
845 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141976625 CA386434813 |
845 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386434804 rs956813514 |
847 | E>K | No |
ClinGen TOPMed |
|
|
rs956813514 CA243336787 |
847 | E>Q | No |
ClinGen TOPMed |
|
|
rs1273967163 CA386434780 |
850 | N>D | No |
ClinGen TOPMed |
|
|
rs1024528063 CA386434775 |
850 | N>K | No |
ClinGen TOPMed |
|
|
rs1187955170 CA386434777 |
850 | N>S | No |
ClinGen gnomAD |
|
|
CA386434761 rs1343308303 |
852 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6767816 rs148140770 |
854 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767815 rs146354825 |
855 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538588387 CA6767813 |
856 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777685965 CA6767811 |
859 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs769440501 CA6767810 |
860 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386434688 rs1171982445 |
863 | G>D | No |
ClinGen gnomAD |
|
|
CA6767808 rs781127015 |
863 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243336678 rs1028930201 |
864 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1314544552 CA386434685 |
864 | M>L | No |
ClinGen gnomAD |
|
|
rs1565855910 CA386434676 |
865 | T>A | No |
ClinGen Ensembl |
|
|
rs754873037 CA6767807 |
866 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779484692 CA6767804 |
870 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767803 rs758131509 |
872 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs750039329 CA6767802 |
875 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762063069 CA243336572 |
877 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6767801 rs765674787 |
877 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386434591 rs765674787 |
877 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs554372371 CA6767799 |
879 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364590682 CA386434574 |
880 | Q>R | No |
ClinGen TOPMed |
|
|
rs1036096767 CA243336537 |
884 | P>A | No |
ClinGen gnomAD |
|
|
rs775769686 CA6767796 |
886 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200671472 CA6767794 |
887 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386434509 rs1248177020 |
890 | R>G | No |
ClinGen TOPMed |
|
|
CA6767792 rs774410439 |
891 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1287900216 CA386434490 |
892 | A>V | No |
ClinGen TOPMed |
|
|
rs1278028865 CA386434465 |
897 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386434464 rs1278028865 |
897 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1593230481 CA386434447 |
899 | L>S | No |
ClinGen Ensembl |
|
|
CA6767790 rs114623060 |
900 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386434441 rs1238351291 |
900 | P>S | No |
ClinGen gnomAD |
|
|
CA6767789 rs779016952 |
901 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746939931 CA6767787 CA386434417 |
904 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757816099 CA6767785 |
905 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768439365 CA6767770 |
906 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6767767 rs771999975 |
910 | R>K | No |
ClinGen ExAC TOPMed |
|
|
rs745404184 CA6767766 |
911 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs745404184 CA386434355 |
911 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA386434340 rs1201798015 |
914 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs756915151 CA386434335 |
915 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386434332 rs1243478375 |
915 | L>P | No |
ClinGen TOPMed |
|
|
rs984148259 CA243333337 |
918 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs149150271 CA6767763 |
918 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386434310 rs1290529833 |
919 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA243333322 rs138140209 |
921 | Q>R | No |
ClinGen ESP gnomAD |
|
|
rs778318799 CA6767762 |
922 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs756524418 CA6767761 |
922 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs753061326 CA386434279 |
925 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs753061326 CA6767760 |
925 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762278126 CA243333302 |
926 | A>V | No |
ClinGen gnomAD |
|
|
CA243333291 rs375684866 |
927 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386434268 rs1404811055 |
927 | A>P | No |
ClinGen gnomAD |
|
|
CA386434269 rs1404811055 |
927 | A>T | No |
ClinGen gnomAD |
|
|
CA6767759 rs375684866 |
927 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6767758 rs755444160 |
928 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs150379327 CA6767757 |
929 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167662951 CA386434248 |
930 | A>V | No |
ClinGen gnomAD |
|
|
rs1258567041 CA386434243 |
931 | E>G | No |
ClinGen TOPMed |
|
|
rs1164189670 CA386434231 |
933 | G>S | No |
ClinGen TOPMed |
|
|
rs1245132783 CA386434222 |
934 | P>L | No |
ClinGen gnomAD |
|
|
CA386434211 rs1395857733 |
936 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs115298393 CA6767754 |
936 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243333229 rs267603288 |
937 | A>T | No |
ClinGen Ensembl |
|
|
rs1469973349 CA386434201 |
938 | P>S | No |
ClinGen TOPMed |
|
|
CA6767752 rs556012990 |
939 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6767751 rs370650616 |
940 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771911288 CA6767750 |
941 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6767748 rs377329323 |
942 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764796467 CA243333141 |
943 | P>L | No |
ClinGen gnomAD |
|
|
rs1316714957 CA386434175 |
943 | P>S | No |
ClinGen gnomAD |
|
|
CA6767747 rs770440201 |
944 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6767745 rs142153818 |
947 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243333123 rs974867120 |
948 | A>S | No |
ClinGen Ensembl |
|
|
CA386434133 rs1187602639 |
950 | K>R | No |
ClinGen gnomAD |
|
|
CA6767744 rs769530608 |
951 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1266605261 CA386434128 |
951 | M>V | No |
ClinGen TOPMed |
|
|
CA386434111 rs1161884867 |
953 | N>S | No |
ClinGen gnomAD |
|
|
rs1380961442 CA386434102 |
954 | A>V | No |
ClinGen gnomAD |
|
|
CA6767740 rs537966592 |
955 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386434100 rs1479710257 |
955 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1479710257 CA386434099 |
955 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs780038452 CA6767739 |
960 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386434062 CA6767738 rs758455328 |
960 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs147596298 CA6767737 |
961 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386434051 rs1280551101 |
962 | R>S | No |
ClinGen gnomAD |
No associated diseases with Q15020
12 regional properties for Q15020
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 704 - 782 | IPR000504-1 |
| domain | RNA recognition motif domain | 801 - 878 | IPR000504-2 |
| repeat | HAT (Half-A-TPR) repeat | 126 - 158 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 164 - 195 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 201 - 237 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 324 - 356 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 359 - 391 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 394 - 430 | IPR003107-6 |
| repeat | HAT (Half-A-TPR) repeat | 487 - 520 | IPR003107-7 |
| domain | LSM-interacting domain | 944 - 962 | IPR008669 |
| domain | SART3, RNA recognition motif 1 | 705 - 778 | IPR034217 |
| domain | SART3, RNA recognition motif 2 | 799 - 879 | IPR034218 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| ASAP complex | A protein complex involved in regulation of mRNA processing and apoptosis. It binds to RNA in a sequence-independent manner and is recruited to the EJC prior to or during the splicing process. In humans the core proteins are RNPS1, SAP18 and ACIN1. |
| Cajal body | A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| U4 snRNA binding | Binding to a U4 small nuclear RNA (U4 snRNA). |
| U6 snRNA binding | Binding to a U6 small nuclear RNA (U6 snRNA). |
| U6atac snRNA binding | Binding to a U6atac small nuclear RNA (U6atac snRNA). |
| ubiquitin-specific protease binding | Binding to a ubiquitin-specific protease. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| hematopoietic stem cell proliferation | The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. |
| homeostasis of number of cells | Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| nucleosome assembly | The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| positive regulation of histone deubiquitination | Any process that activates or increases the frequency, rate or extent of histone deubiquitination. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| spliceosomal snRNP assembly | The aggregation, arrangement and bonding together of one or more snRNA and multiple protein components to form a ribonucleoprotein complex that is involved in formation of the spliceosome. |
| spliceosomal tri-snRNP complex assembly | The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9W4D2 | Rnp4F | RNA-binding protein 4F | Drosophila melanogaster (Fruit fly) | PR |
| Q9JLI8 | Sart3 | Squamous cell carcinoma antigen recognized by T-cells 3 | Mus musculus (Mouse) | PR |
| B3DJT0 | sart3 | Squamous cell carcinoma antigen recognized by T-cells 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATAAETSAS | EPEAESKAGP | KADGEEDEVK | AARTRRKVLS | RAVAAATYKT | MGPAWDQQEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVSESDGDEY | AMASSAESSP | GEYEWEYDEE | EEKNQLEIER | LEEQLSINVY | DYNCHVDLIR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLRLEGELTK | VRMARQKMSE | IFPLTEELWL | EWLHDEISMA | QDGLDREHVY | DLFEKAVKDY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ICPNIWLEYG | QYSVGGIGQK | GGLEKVRSVF | ERALSSVGLH | MTKGLALWEA | YREFESAIVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AARLEKVHSL | FRRQLAIPLY | DMEATFAEYE | EWSEDPIPES | VIQNYNKALQ | QLEKYKPYEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ALLQAEAPRL | AEYQAYIDFE | MKIGDPARIQ | LIFERALVEN | CLVPDLWIRY | SQYLDRQLKV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDLVLSVHNR | AIRNCPWTVA | LWSRYLLAME | RHGVDHQVIS | VTFEKALNAG | FIQATDYVEI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WQAYLDYLRR | RVDFKQDSSK | ELEELRAAFT | RALEYLKQEV | EERFNESGDP | SCVIMQNWAR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IEARLCNNMQ | KARELWDSIM | TRGNAKYANM | WLEYYNLERA | HGDTQHCRKA | LHRAVQCTSD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YPEHVCEVLL | TMERTEGSLE | DWDIAVQKTE | TRLARVNEQR | MKAAEKEAAL | VQQEEEKAEQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RKRARAEKKA | LKKKKKIRGP | EKRGADEDDE | KEWGDDEEEQ | PSKRRRVENS | IPAAGETQNV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EVAAGPAGKC | AAVDVEPPSK | QKEKAASLKR | DMPKVLHDSS | KDSITVFVSN | LPYSMQEPDT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KLRPLFEACG | EVVQIRPIFS | NRGDFRGYCY | VEFKEEKSAL | QALEMDRKSV | EGRPMFVSPC |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VDKSKNPDFK | VFRYSTSLEK | HKLFISGLPF | SCTKEELEEI | CKAHGTVKDL | RLVTNRAGKP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KGLAYVEYEN | ESQASQAVMK | MDGMTIKENI | IKVAISNPPQ | RKVPEKPETR | KAPGGPMLLP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QTYGARGKGR | TQLSLLPRAL | QRPSAAAPQA | ENGPAAAPAV | AAPAATEAPK | MSNADFAKLF |
| LRK |