Q9BYP7
Gene name |
WNK3 |
Protein name |
Serine/threonine-protein kinase WNK3 |
Names |
Protein kinase lysine-deficient 3, Protein kinase with no lysine 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65267 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
147-405 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
293-314 (Activation loop from InterPro)
Target domain |
147-405 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

9 structures for Q9BYP7
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
5NKP | X-ray | 280 A | C/D | 537-547 | PDB |
5O1V | X-ray | 172 A | A/B | 132-414 | PDB |
5O21 | X-ray | 206 A | A/B | 132-414 | PDB |
5O23 | X-ray | 225 A | A/B | 132-414 | PDB |
5O26 | X-ray | 238 A | A/B | 133-414 | PDB |
5O2B | X-ray | 204 A | A/B | 132-414 | PDB |
5O2C | X-ray | 240 A | A | 123-500 | PDB |
8EDH | X-ray | 311 A | A/C | 1-1800 | PDB |
AF-Q9BYP7-F1 | Predicted | AlphaFoldDB |
703 variants for Q9BYP7
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA10424753 rs782739360 |
8 | P>L | No |
ClinGen ExAC gnomAD |
|
CA10424752 rs782511442 |
9 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424751 rs782507903 |
10 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413353314 rs1569539176 |
13 | D>E | No |
ClinGen Ensembl |
|
rs1449103220 CA413353074 |
23 | E>V | No |
ClinGen TOPMed |
|
CA329043222 rs146463327 |
26 | V>A | No |
ClinGen ESP |
|
CA10424750 rs782794204 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
rs972461261 CA329043220 |
28 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA10424749 rs782163611 |
30 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557174790 CA413352785 |
34 | T>A | No |
ClinGen gnomAD |
|
rs781785725 CA10424748 |
36 | E>K | No |
ClinGen ExAC gnomAD |
|
CA413352721 rs1410645440 |
37 | A>T | No |
ClinGen TOPMed |
|
CA413352623 rs1569539173 |
41 | E>K | No |
ClinGen Ensembl |
|
CA10424747 COSM613405 rs782264239 |
44 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA413352544 rs782264239 |
44 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA413352492 rs1333566428 |
46 | F>L | No |
ClinGen TOPMed |
|
rs939905882 CA329043201 |
47 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs939905882 CA413352473 |
47 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs782073797 CA10424746 |
49 | S>C | No |
ClinGen ExAC gnomAD |
|
CA10424745 rs781963077 |
53 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557174762 CA413352244 |
56 | K>N | No |
ClinGen TOPMed |
|
CA10424744 rs782394558 |
57 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1557174756 CA413352208 |
57 | R>S | No |
ClinGen gnomAD |
|
rs1557174755 CA413352123 |
60 | R>Q | No |
ClinGen gnomAD |
|
rs782667504 CA10424743 |
63 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs782042256 CA10424742 |
66 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413351966 rs1557174745 |
67 | E>Q | No |
ClinGen gnomAD |
|
CA10424741 rs371151681 |
68 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782203222 CA10424740 |
69 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1268086714 CA413351897 |
70 | K>R | No |
ClinGen TOPMed |
|
rs187828471 CA10424738 |
73 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10424737 rs140257369 |
75 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557174730 CA413351769 |
76 | P>T | No |
ClinGen gnomAD |
|
rs1557174727 CA413351751 |
77 | K>E | No |
ClinGen gnomAD |
|
rs782657393 CA10424736 |
77 | K>R | No |
ClinGen ExAC gnomAD |
|
CA413351677 rs1322041081 |
80 | R>S | No |
ClinGen TOPMed |
|
CA413351626 rs201541598 |
83 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424735 rs201541598 |
83 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781899650 CA10424734 |
85 | M>I | No |
ClinGen ExAC gnomAD |
|
CA10424733 rs202201697 |
86 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10424732 rs782448948 |
88 | P>Q | No |
ClinGen ExAC |
|
CA413351487 rs1244154071 |
90 | V>G | No |
ClinGen TOPMed |
|
rs200098628 CA10424731 |
93 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA413351425 rs1464698205 |
94 | P>S | No |
ClinGen TOPMed |
|
CA10424729 rs146653146 |
98 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
rs149686278 CA10424730 |
98 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs781893776 CA10424728 |
99 | R>G | No |
ClinGen ExAC gnomAD |
|
CA413351323 rs1557174689 |
99 | R>K | No |
ClinGen gnomAD |
|
CA10424727 rs782820361 |
100 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1557174684 CA413351160 |
106 | Y>C | No |
ClinGen gnomAD |
|
rs781835029 CA10424726 COSM3965379 |
107 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA413351041 rs1475857124 |
111 | K>E | No |
ClinGen TOPMed |
|
rs1603400058 CA413351029 |
111 | K>N | No |
ClinGen Ensembl |
|
CA329043019 rs966190906 |
112 | S>P | No |
ClinGen Ensembl |
|
CA10424723 rs144511829 |
113 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557174656 CA413350979 |
114 | S>L | No |
ClinGen gnomAD |
|
rs1557174646 CA413350833 |
121 | F>L | No |
ClinGen gnomAD |
|
rs1557174641 CA413350746 |
125 | N>D | No |
ClinGen TOPMed |
|
CA10424721 rs782383532 |
129 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413350329 rs1557174633 |
138 | V>I | No |
ClinGen gnomAD |
|
rs374080880 CA10424719 |
142 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
rs374080880 CA10424718 |
142 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
CA10424716 rs782597295 |
151 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs111850805 CA329042947 |
155 | R>G | No |
ClinGen Ensembl |
|
rs1315940370 CA413348284 |
162 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs781852077 CA10424714 |
167 | T>S | No |
ClinGen ExAC gnomAD |
|
CA10424704 rs782818873 |
186 | A>G | No |
ClinGen ExAC gnomAD |
|
CA10424701 rs782334275 COSM1558630 |
204 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA413353745 rs1445548658 |
216 | I>V | No |
ClinGen TOPMed |
|
rs1557169598 CA413353670 |
222 | C>Y | No |
ClinGen gnomAD |
|
CA10424698 rs782411346 COSM457776 |
237 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA413353080 rs1569538596 |
244 | V>F | No |
ClinGen Ensembl |
|
CA413352933 rs1467996657 |
249 | V>A | No |
ClinGen TOPMed |
|
rs782055967 CA329027979 |
252 | S>N | No |
ClinGen Ensembl |
|
rs782075036 CA10424685 |
262 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1557169251 CA413352383 |
271 | I>V | No |
ClinGen gnomAD |
|
CA413351713 rs781938886 |
302 | R>C | No |
ClinGen TOPMed |
|
CA329027961 rs200575360 |
302 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA329027965 rs781938886 |
302 | R>S | No |
ClinGen TOPMed |
|
CA10424681 rs782042709 |
303 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1557169229 CA413351619 |
306 | A>V | No |
ClinGen gnomAD |
|
CA413351314 rs1347192309 |
317 | A>T | No |
ClinGen TOPMed |
|
CA10424670 rs782453350 |
329 | V>I | No |
ClinGen ExAC gnomAD |
|
CA413348145 rs1557167532 |
365 | I>V | No |
ClinGen gnomAD |
|
CA413347869 rs1603393453 |
373 | V>F | No |
ClinGen Ensembl |
|
CA413347846 rs1557167529 |
374 | T>A | No |
ClinGen TOPMed |
|
rs1569538392 CA413347664 |
383 | E>V | No |
ClinGen Ensembl |
|
rs782598590 CA10424653 |
387 | R>C | No |
ClinGen ExAC |
|
CA10424652 rs782355785 |
387 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1603392660 COSM1270491 CA413347363 |
401 | N>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA10424638 rs781931476 |
412 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1557166756 CA413347198 |
419 | D>G | No |
ClinGen gnomAD |
|
rs1337828270 CA413347205 |
419 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1428931184 CA413347185 |
420 | D>V | No |
ClinGen TOPMed |
|
rs1557166752 CA413347177 |
421 | C>R | No |
ClinGen gnomAD |
|
CA329026190 rs111262520 |
442 | H>R | No |
ClinGen Ensembl |
|
rs1276514127 CA413346897 |
445 | N>D | No |
ClinGen TOPMed |
|
rs1321367633 CA413346893 |
445 | N>S | No |
ClinGen TOPMed |
|
rs1557166723 CA413346665 |
458 | T>I | No |
ClinGen gnomAD |
|
CA10424630 rs782326412 |
464 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs782756233 CA10424619 |
467 | V>I | No |
ClinGen ExAC gnomAD |
|
CA10424618 rs782126477 |
475 | S>G | No |
ClinGen ExAC gnomAD |
|
CA413345786 rs1381062505 |
484 | I>V | No |
ClinGen TOPMed |
|
rs1424113106 CA413345743 |
485 | R>S | No |
ClinGen TOPMed |
|
CA413345686 rs1161469441 |
488 | V>M | No |
ClinGen TOPMed gnomAD |
|
COSM116663 rs373983548 CA10424617 |
489 | T>M | ovary upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs782070721 CA10424615 |
490 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1406972167 CA413345595 |
491 | I>V | No |
ClinGen TOPMed |
|
CA10424614 rs781954947 |
495 | R>K | No |
ClinGen ExAC TOPMed |
|
rs781954947 CA413345485 |
495 | R>T | No |
ClinGen ExAC TOPMed |
|
rs782370150 CA10424613 |
497 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA413345400 rs1375842626 |
498 | K>Q | No |
ClinGen TOPMed |
|
CA413345364 rs1444193522 |
499 | P>H | No |
ClinGen TOPMed |
|
CA10424612 rs782003416 |
500 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs782407317 CA10424611 |
500 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA413345308 rs1311012318 |
501 | G>V | No |
ClinGen TOPMed |
|
CA10424609 rs782298211 |
506 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782571046 CA10424608 COSM3701872 |
506 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA413345193 rs782571046 |
506 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1315609 rs149832313 CA10424607 RCV000904930 |
507 | R>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA10424606 rs782206706 |
510 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA10424605 rs782608495 |
511 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424604 rs782511258 |
514 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1257895581 CA413344959 |
516 | N>S | No |
ClinGen TOPMed |
|
rs1557165881 CA413344857 |
520 | Q>H | No |
ClinGen gnomAD |
|
rs781863997 CA413344801 |
525 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781863997 CA10424603 |
525 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782320716 CA10424600 |
531 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs782320716 CA10424601 |
531 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs371957284 CA329025562 |
535 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
CA329025558 rs371957284 |
535 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
rs1163772057 CA413344402 |
543 | V>A | No |
ClinGen TOPMed |
|
rs782772231 CA10424596 |
546 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424597 rs781992551 |
546 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1557165851 CA413344278 |
548 | R>K | No |
ClinGen gnomAD |
|
CA10424594 rs782313288 |
550 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA10424595 rs782151856 |
550 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs1557165841 CA413344199 |
551 | L>R | No |
ClinGen gnomAD |
|
CA10424591 rs781945634 |
556 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557165818 CA413344094 |
557 | Q>* | No |
ClinGen gnomAD |
|
rs782356886 CA10424590 |
561 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413343967 rs1395067678 |
562 | S>C | No |
ClinGen TOPMed |
|
CA413343637 rs1557165573 |
570 | E>G | No |
ClinGen gnomAD |
|
CA329025366 rs781902102 |
571 | A>T | No |
ClinGen Ensembl |
|
CA10424576 COSM3845106 rs782728825 |
572 | G>E | breast [Cosmic] | No |
ClinGen cosmic curated ExAC |
rs782098232 CA10424575 |
573 | A>V | No |
ClinGen ExAC TOPMed |
|
rs781986184 CA10424574 |
574 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424571 rs782024634 |
577 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1172296528 CA413343469 |
577 | I>M | No |
ClinGen TOPMed |
|
CA10424572 rs782024634 |
577 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1557165549 CA413343451 |
578 | H>R | No |
ClinGen gnomAD |
|
rs1557165553 CA413343458 |
578 | H>Y | No |
ClinGen gnomAD |
|
CA329025350 rs201568341 |
583 | S>G | No |
ClinGen Ensembl |
|
CA413343236 rs1416355178 |
586 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA413343231 rs1174398203 COSM1468660 |
587 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1557165537 CA413343199 |
588 | A>T | No |
ClinGen Ensembl |
|
rs782309322 CA10424570 |
594 | T>M | No |
ClinGen ExAC TOPMed |
|
CA413343006 rs1557165527 |
596 | G>S | No |
ClinGen gnomAD |
|
CA10424568 rs147282819 |
602 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424567 rs782382951 |
603 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377713590 CA10424566 |
604 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424564 rs782544068 |
606 | A>T | No |
ClinGen ExAC gnomAD |
|
rs143891385 CA10424563 |
607 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
CA413342679 rs1557165504 |
610 | V>L | No |
ClinGen gnomAD |
|
CA329025311 rs969124118 |
611 | P>R | No |
ClinGen Ensembl |
|
CA413342557 rs1557165499 |
615 | Y>S | No |
ClinGen gnomAD |
|
rs1236011730 CA413342429 |
620 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA10424560 rs781839567 |
621 | V>E | No |
ClinGen ExAC gnomAD |
|
CA329025303 rs991829539 |
623 | H>R | No |
ClinGen Ensembl |
|
CA10424559 rs782763536 |
626 | Q>K | No |
ClinGen ExAC |
|
rs782132872 CA10424558 |
628 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1557165435 CA413342090 |
632 | K>N | No |
ClinGen gnomAD |
|
rs782011608 CA10424547 |
633 | H>D | No |
ClinGen ExAC gnomAD |
|
rs782413999 CA10424546 |
635 | K>E | No |
ClinGen ExAC gnomAD |
|
rs782413999 CA413342037 |
635 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA10424545 rs782291840 |
638 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA413341967 rs1379847450 |
638 | Q>H | No |
ClinGen TOPMed |
|
CA10424543 rs782328561 |
639 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781920437 CA10424544 |
639 | P>S | No |
ClinGen ExAC gnomAD |
|
rs782621772 CA10424541 |
640 | Q>* | No |
ClinGen ExAC |
|
rs1401186386 CA413341880 |
643 | P>R | No |
ClinGen TOPMed |
|
rs782501795 CA10424540 |
643 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1322706736 CA413341835 |
646 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA413341809 rs1557165384 |
647 | G>S | No |
ClinGen gnomAD |
|
CA10424539 rs782262225 |
654 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424538 rs139873078 |
659 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781784064 CA10424536 |
666 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1237347688 CA413341325 |
667 | V>A | No |
ClinGen TOPMed |
|
CA413341332 rs199655322 |
667 | V>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA413341337 COSM3668749 rs199655322 |
667 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
rs996420520 CA413341240 |
671 | T>I | No |
ClinGen TOPMed |
|
rs996420520 CA329025250 |
671 | T>S | No |
ClinGen TOPMed |
|
rs782700460 CA10424535 |
672 | V>I | No |
ClinGen ExAC gnomAD |
|
CA10424534 rs782477216 |
678 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1329526588 CA413356291 |
682 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs983775071 CA329015409 |
684 | P>T | No |
ClinGen Ensembl |
|
rs1447919909 CA413356274 |
685 | V>D | No |
ClinGen TOPMed |
|
CA413356262 rs1377545107 |
687 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs1377545107 CA413356263 |
687 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs201840392 CA10424524 |
687 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199587694 CA10424522 |
692 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424521 rs200859828 |
692 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1018275791 CA329015399 |
700 | R>P | No |
ClinGen Ensembl |
|
rs1557156205 CA413356170 |
701 | S>N | No |
ClinGen gnomAD |
|
CA413356147 rs1557155423 |
702 | L>W | No |
ClinGen gnomAD |
|
rs957187991 CA329014283 |
703 | N>K | No |
ClinGen Ensembl |
|
CA413356135 COSM265930 rs1557155418 |
704 | Q>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA10424511 RCV000882848 rs56077971 VAR_041323 |
704 | Q>H | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1398509697 CA413356114 |
707 | A>T | No |
ClinGen TOPMed |
|
CA10424509 rs141367442 |
708 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424510 rs141367442 |
708 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424508 rs782417608 |
709 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413356098 rs1557155386 |
710 | K>E | No |
ClinGen gnomAD |
|
CA413356083 rs1557155382 |
712 | N>D | No |
ClinGen gnomAD |
|
CA10424505 rs782304144 |
713 | V>I | No |
ClinGen ExAC gnomAD |
|
CA413356069 rs1557155373 |
714 | S>G | No |
ClinGen gnomAD |
|
rs781943674 CA10424503 |
720 | S>R | No |
ClinGen ExAC gnomAD |
|
rs782263059 CA10424501 |
725 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1286563870 CA413355976 |
726 | D>E | No |
ClinGen TOPMed |
|
rs1557155355 COSM362691 CA413355973 |
727 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1447824802 CA413355928 |
733 | A>V | No |
ClinGen TOPMed |
|
CA10424500 rs372464064 |
736 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413355913 rs372464064 |
736 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413355875 rs782185007 |
742 | T>A | No |
ClinGen ExAC gnomAD |
|
rs782185007 CA10424498 |
742 | T>P | No |
ClinGen ExAC gnomAD |
|
CA10424497 rs782586809 |
744 | F>Y | No |
ClinGen ExAC gnomAD |
|
rs781843108 CA10424495 |
748 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1160919797 CA413355803 |
751 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA10424483 rs782166679 |
753 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413355775 rs1603382708 |
756 | D>N | No |
ClinGen Ensembl |
|
rs781926556 CA10424482 |
760 | E>D | No |
ClinGen ExAC gnomAD |
|
CA413355682 rs1439911047 |
768 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA10424480 rs782217542 |
777 | V>I | No |
ClinGen ExAC |
|
rs372610914 CA10424479 |
781 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424477 rs782261658 |
783 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs782656145 CA10424476 |
784 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1557154956 CA413355550 |
787 | D>H | No |
ClinGen gnomAD |
|
rs782462658 CA10424472 |
795 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138016185 CA10424470 |
798 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413355455 rs1603382133 |
798 | S>T | No |
ClinGen Ensembl |
|
rs782559176 CA413355426 |
802 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs904531563 CA329013058 |
802 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs782559176 CA10424469 |
802 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA329013057 rs376341338 |
804 | V>I | No |
ClinGen ESP |
|
rs145358981 CA10424468 |
805 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424467 rs369362535 |
806 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413355388 rs1255762334 |
807 | L>F | No |
ClinGen TOPMed |
|
rs370235367 CA329013015 |
809 | A>T | No |
ClinGen Ensembl |
|
rs1603382097 CA413355338 |
815 | Q>* | No |
ClinGen Ensembl |
|
CA10424466 rs201281405 |
815 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs782763124 CA10424464 |
818 | L>F | No |
ClinGen ExAC gnomAD |
|
rs782405935 CA10424461 |
821 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs782001482 CA10424462 |
821 | H>R | No |
ClinGen ExAC gnomAD |
|
rs782295588 CA10424460 |
823 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1557154252 CA413355277 |
824 | T>I | No |
ClinGen gnomAD |
|
CA10424459 rs781918743 |
826 | R>G | No |
ClinGen ExAC gnomAD |
|
CA10424458 rs782314090 |
827 | A>D | No |
ClinGen ExAC gnomAD |
|
CA413355254 rs1557154243 |
828 | T>A | No |
ClinGen gnomAD |
|
CA413355248 rs1557154235 |
829 | G>R | No |
ClinGen gnomAD |
|
rs982508228 CA329012983 |
830 | V>G | No |
ClinGen Ensembl |
|
CA10424457 rs140263470 |
833 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10424456 rs371759302 |
834 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10424455 rs782499802 |
838 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782505998 CA329012956 |
839 | S>N | No |
ClinGen Ensembl |
|
rs1391524112 CA413355173 |
840 | S>R | No |
ClinGen TOPMed |
|
CA10424454 rs782284763 |
841 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781899848 CA10424444 |
842 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs782060150 CA10424443 |
843 | G>E | No |
ClinGen ExAC gnomAD |
|
rs146672116 CA329012914 |
848 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
rs1557154175 CA413355082 |
852 | S>C | No |
ClinGen gnomAD |
|
rs782356624 CA10424441 |
853 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1207463417 CA413355076 |
853 | T>I | No |
ClinGen TOPMed |
|
CA10424440 rs782238282 |
854 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557154167 CA413355069 |
855 | T>A | No |
ClinGen gnomAD |
|
CA10424439 rs781999100 |
857 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1475463200 CA413355048 |
858 | S>N | No |
ClinGen TOPMed |
|
CA10424432 rs371385907 |
859 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413354972 rs1220446857 |
868 | V>I | No |
ClinGen TOPMed |
|
rs1557153813 CA413354921 |
874 | C>R | No |
ClinGen gnomAD |
|
CA329012525 rs959075562 |
878 | T>M | No |
ClinGen TOPMed |
|
rs1557153808 CA413354851 |
880 | R>K | No |
ClinGen gnomAD |
|
rs782432728 CA10424429 |
882 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424427 rs781802911 |
882 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs781802911 CA10424428 |
882 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs150096945 CA10424426 |
883 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782243482 CA10424425 |
886 | S>C | No |
ClinGen ExAC gnomAD |
|
rs782243482 CA413354790 |
886 | S>F | No |
ClinGen ExAC gnomAD |
|
CA10424424 rs782767979 |
889 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1183182850 CA413354694 |
896 | A>T | No |
ClinGen TOPMed |
|
rs201969750 CA10424423 |
896 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424422 rs781922477 |
898 | P>R | No |
ClinGen ExAC gnomAD |
|
CA413354664 rs1557153780 |
899 | G>C | No |
ClinGen gnomAD |
|
rs1603381689 CA413354655 RCV000995923 |
900 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs782085509 CA10424420 |
902 | P>A | No |
ClinGen ExAC TOPMed |
|
CA10424419 rs782730940 |
904 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10424418 rs782730940 |
904 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs782652815 CA10424417 |
905 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782747415 CA10424401 |
906 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424400 rs782124950 |
910 | S>T | No |
ClinGen ExAC gnomAD |
|
CA10424399 rs781964103 |
913 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10424397 rs782257900 |
914 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1557153672 CA413353202 |
915 | S>P | No |
ClinGen gnomAD |
|
rs111417684 CA10424396 |
916 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557153668 CA413353132 |
918 | T>S | No |
ClinGen gnomAD |
|
CA10424395 rs782318683 |
921 | T>A | No |
ClinGen ExAC gnomAD |
|
CA329012374 rs151337939 |
921 | T>I | No |
ClinGen ESP |
|
rs782200825 CA10424394 |
929 | R>C | No |
ClinGen ExAC gnomAD |
|
rs147109461 CA10424393 |
929 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413352664 rs1557153651 |
938 | H>Y | No |
ClinGen gnomAD |
|
CA10424390 rs782662006 |
939 | K>R | No |
ClinGen ExAC gnomAD |
|
rs946662676 CA329012361 |
940 | D>G | No |
ClinGen gnomAD |
|
rs782435149 CA10424389 COSM1715018 |
940 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA10424388 rs190471786 |
944 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10424387 RCV000884228 rs149437976 |
946 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs782574568 CA329012341 |
947 | S>F | No |
ClinGen 1000Genomes |
|
CA10424386 rs782496912 |
948 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424385 rs781866335 |
950 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1427024503 CA413352311 |
951 | S>I | No |
ClinGen TOPMed |
|
CA10424384 rs782786256 |
956 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1470882013 CA413352198 |
956 | Q>L | No |
ClinGen TOPMed |
|
CA329012319 rs960592190 |
958 | A>V | No |
ClinGen Ensembl |
|
rs1557153596 CA413352023 |
964 | E>K | No |
ClinGen gnomAD |
|
CA329012311 rs782471132 |
968 | Q>H | No |
ClinGen gnomAD |
|
CA413351893 rs1603381525 |
969 | I>T | No |
ClinGen Ensembl |
|
CA413351808 rs1337315985 |
974 | T>I | No |
ClinGen TOPMed |
|
CA413351757 rs782542794 |
977 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782542794 CA10424383 |
977 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424380 rs140928847 |
980 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs928677313 CA413351694 |
981 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA10424379 rs147706876 |
981 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
rs928677313 CA329012265 |
981 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs1569536622 CA413351679 |
982 | T>A | No |
ClinGen Ensembl |
|
CA10424378 rs782731290 |
985 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424377 rs200979535 |
985 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413351578 rs1321876571 |
988 | P>T | No |
ClinGen TOPMed |
|
rs782406134 CA10424375 |
992 | E>G | No |
ClinGen ExAC gnomAD |
|
rs549618930 CA329012236 |
993 | G>E | No |
ClinGen Ensembl |
|
CA413351460 rs1264342536 |
995 | T>I | No |
ClinGen TOPMed |
|
rs145468986 CA10424374 |
998 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
VAR_041325 CA329012235 rs56404148 |
998 | A>T | No |
ClinGen UniProt Ensembl dbSNP |
|
CA10424373 rs781937568 |
999 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1243387786 CA413351324 |
1002 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA10424372 rs370590119 |
1003 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782226120 CA10424371 |
1004 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1557153523 CA413351282 |
1005 | Y>H | No |
ClinGen gnomAD |
|
rs1198255823 CA413351258 |
1006 | P>L | No |
ClinGen TOPMed |
|
CA10424370 rs782643827 |
1007 | C>R | No |
ClinGen ExAC gnomAD |
|
CA413351195 rs1557153510 |
1009 | Q>R | No |
ClinGen gnomAD |
|
CA413351153 rs1557153503 |
1011 | A>V | No |
ClinGen gnomAD |
|
CA413351147 rs1603381466 |
1012 | S>G | No |
ClinGen Ensembl |
|
rs782637003 CA10424369 |
1012 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA329012193 rs781891866 COSM3092692 |
1023 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA413350864 rs1557153484 |
1025 | T>P | No |
ClinGen gnomAD |
|
rs782431389 CA10424366 |
1032 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1398919624 CA413350683 |
1034 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA413350645 rs1157003590 |
1036 | A>T | No |
ClinGen TOPMed |
|
rs1347093544 CA413350623 |
1036 | A>V | No |
ClinGen TOPMed |
|
CA10424365 rs781800081 |
1038 | D>G | No |
ClinGen ExAC gnomAD |
|
rs782505507 CA329012178 |
1042 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557153454 CA413350474 |
1042 | Q>P | No |
ClinGen gnomAD |
|
rs1557153449 CA413350452 |
1043 | T>A | No |
ClinGen gnomAD |
|
CA10424362 rs781852931 |
1045 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413350236 rs1302788593 |
1049 | P>Q | No |
ClinGen TOPMed |
|
rs1603381422 CA413350153 |
1052 | D>E | No |
ClinGen Ensembl |
|
CA10424361 rs782791620 |
1053 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1407174103 CA413350083 |
1056 | I>T | No |
ClinGen TOPMed |
|
rs1603381413 CA413350015 |
1060 | G>E | No |
ClinGen Ensembl |
|
CA329012160 rs375928678 |
1071 | P>R | No |
ClinGen ESP gnomAD |
|
CA413349850 rs1373207932 |
1071 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs782146970 CA10424360 |
1073 | T>A | No |
ClinGen ExAC gnomAD |
|
CA10424358 rs782716330 |
1074 | V>F | No |
ClinGen ExAC gnomAD |
|
rs781894959 CA329012113 |
1075 | I>V | No |
ClinGen 1000Genomes |
|
rs1557153424 CA413349785 |
1076 | P>R | No |
ClinGen gnomAD |
|
rs782022800 CA10424353 |
1080 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1316992545 CA413349680 |
1085 | T>A | No |
ClinGen TOPMed |
|
CA413349609 rs1289170230 |
1091 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs782337614 CA10424349 |
1096 | D>V | No |
ClinGen ExAC gnomAD |
|
CA10424348 rs782437240 |
1100 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA413349407 rs1557153385 |
1106 | A>V | No |
ClinGen gnomAD |
|
CA10424347 rs782635253 |
1108 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM278141 CA413349369 rs1557153381 |
1109 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs782512030 CA10424346 |
1115 | E>G | No |
ClinGen ExAC gnomAD |
|
CA413349158 rs1557153375 |
1126 | S>N | No |
ClinGen gnomAD |
|
rs139937497 CA10424345 |
1132 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
CA413349066 rs1557153361 |
1133 | E>K | No |
ClinGen gnomAD |
|
CA10424343 rs147480156 |
1138 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413348984 rs147480156 |
1138 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557153347 CA413348977 |
1139 | Q>E | No |
ClinGen gnomAD |
|
rs781824909 CA10424342 |
1143 | S>A | No |
ClinGen ExAC gnomAD |
|
CA413348915 rs1557153333 |
1144 | P>T | No |
ClinGen gnomAD |
|
rs1163122285 CA413348851 |
1149 | A>T | No |
ClinGen TOPMed |
|
rs1363923361 CA413348808 |
1152 | T>A | No |
ClinGen TOPMed |
|
CA10424339 rs781871276 |
1152 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV001092788 rs1557153313 |
1154 | S>F | No |
ClinVar dbSNP |
|
CA413348789 rs1557153313 |
1154 | S>Y | No |
ClinGen gnomAD |
|
CA413348784 rs1557153310 |
1155 | C>Y | No |
ClinGen gnomAD |
|
rs1304128290 CA413348773 |
1157 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs782813200 CA10424338 |
1163 | I>V | No |
ClinGen ExAC gnomAD |
|
CA413348637 rs1557153300 |
1167 | G>A | No |
ClinGen gnomAD |
|
CA329012052 rs891306470 |
1168 | I>F | No |
ClinGen Ensembl |
|
CA329012045 VAR_041326 rs55903619 |
1169 | K>E | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs782166941 CA10424337 |
1172 | P>L | No |
ClinGen ExAC gnomAD |
|
CA413348533 rs1281811477 |
1175 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA10424335 rs782321162 |
1175 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs782079629 CA413348521 |
1176 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782079629 CA10424334 |
1176 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370142696 CA10424333 |
1177 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
rs1244568984 CA413348403 |
1181 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA413348376 rs1557153236 |
1183 | S>P | No |
ClinGen gnomAD |
|
CA413348305 rs1312325148 |
1188 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs782656518 CA10424330 |
1188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413348248 rs1222840274 |
1192 | S>G | No |
ClinGen TOPMed |
|
CA329011991 rs201972022 |
1196 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
rs1271947866 CA413348152 |
1197 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA329011980 rs200210498 COSM1468653 |
1201 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1557153215 CA413348034 |
1202 | R>K | No |
ClinGen gnomAD |
|
rs782173132 CA10424328 |
1207 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424325 rs3747286 |
1213 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557153197 CA413347736 |
1216 | L>S | No |
ClinGen gnomAD |
|
CA413347726 rs373458497 |
1217 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424323 rs373458497 |
1217 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557150958 CA413346848 |
1218 | E>* | No |
ClinGen gnomAD |
|
rs1557150958 CA413346851 |
1218 | E>Q | No |
ClinGen gnomAD |
|
rs782158806 CA10424305 |
1222 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413346742 rs1224328258 |
1223 | A>V | No |
ClinGen TOPMed |
|
rs1293055363 CA413346705 |
1226 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs782319888 CA10424303 |
1235 | A>G | No |
ClinGen ExAC gnomAD |
|
rs782394062 CA10424300 |
1239 | G>D | No |
ClinGen ExAC |
|
CA413346434 rs1557150940 |
1239 | G>S | No |
ClinGen gnomAD |
|
rs1557150928 CA413346305 |
1246 | T>R | No |
ClinGen gnomAD |
|
rs1557150923 CA413346301 |
1247 | G>R | No |
ClinGen gnomAD |
|
CA413346188 rs1470236873 |
1254 | S>N | No |
ClinGen TOPMed |
|
rs1557150915 CA413346184 |
1254 | S>R | No |
ClinGen gnomAD |
|
rs1557150908 CA413346044 |
1260 | L>F | No |
ClinGen gnomAD |
|
CA329009165 rs942589187 |
1261 | K>R | No |
ClinGen Ensembl |
|
rs373588742 CA10424297 |
1263 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413345943 rs1411251742 |
1264 | I>L | No |
ClinGen TOPMed |
|
CA329009139 rs912484193 |
1269 | W>* | No |
ClinGen Ensembl |
|
rs1425327305 CA413345748 |
1271 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA413345740 rs868955784 |
1271 | R>H | No |
ClinGen TOPMed |
|
CA10424296 rs138028142 |
1277 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1306216232 CA413345608 |
1277 | A>V | No |
ClinGen TOPMed |
|
rs782475066 CA10424294 |
1281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3092667 rs377088498 CA10424295 |
1281 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1569536313 CA413345506 |
1282 | Q>* | No |
ClinGen Ensembl |
|
rs1302481742 CA413345499 |
1282 | Q>R | No |
ClinGen TOPMed |
|
CA413345448 rs1377254030 |
1285 | S>G | No |
ClinGen TOPMed |
|
CA413345300 rs1557150870 |
1292 | V>A | No |
ClinGen gnomAD |
|
CA413345293 COSM1715016 rs1230331380 |
1293 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs200080539 CA10424293 COSM1165480 |
1293 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA10424283 rs781929534 |
1295 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10424282 rs782779614 |
1297 | T>A | No |
ClinGen ExAC gnomAD |
|
rs782127828 CA10424281 |
1297 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782428652 CA10424279 |
1298 | E>D | No |
ClinGen ExAC gnomAD |
|
rs782021146 CA10424280 |
1298 | E>K | No |
ClinGen ExAC gnomAD |
|
CA10424278 rs372554629 |
1300 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557150743 CA413344989 |
1303 | A>T | No |
ClinGen gnomAD |
|
rs1039306862 CA329008867 |
1305 | A>V | No |
ClinGen gnomAD |
|
CA10424277 rs781942753 |
1310 | P>L | No |
ClinGen ExAC gnomAD |
|
CA329008850 rs942389403 |
1312 | T>S | No |
ClinGen Ensembl |
|
rs368509222 CA329008826 |
1313 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
rs782307597 CA10424276 |
1313 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10424275 rs782221000 |
1321 | A>P | No |
ClinGen ExAC gnomAD |
|
CA10424274 rs782621895 |
1321 | A>V | No |
ClinGen ExAC gnomAD |
|
rs200922004 CA10424273 |
1323 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA329008801 rs376813688 |
1324 | R>S | No |
ClinGen ESP |
|
rs782274374 CA10424272 |
1327 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781803806 CA10424269 |
1334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424270 COSM1123350 rs201834658 |
1334 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1557150700 CA413344298 |
1336 | R>Q | No |
ClinGen gnomAD |
|
CA413344087 rs1200963538 |
1340 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs782374181 CA10424259 |
1342 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1557150537 CA413343980 |
1344 | Q>R | No |
ClinGen gnomAD |
|
CA10424258 rs782119691 |
1347 | S>P | No |
ClinGen ExAC gnomAD |
|
CA10424257 rs782010947 |
1350 | M>L | No |
ClinGen ExAC gnomAD |
|
CA329008457 rs782305717 |
1355 | I>T | No |
ClinGen gnomAD |
|
CA413343758 rs1603379015 |
1356 | E>K | No |
ClinGen Ensembl |
|
CA413343727 rs1429482337 |
1357 | H>Y | No |
ClinGen TOPMed |
|
CA413343711 rs1156555298 |
1358 | I>L | No |
ClinGen TOPMed |
|
CA413343713 rs1156555298 |
1358 | I>V | No |
ClinGen TOPMed |
|
rs782181966 CA10424255 |
1361 | F>L | No |
ClinGen ExAC gnomAD |
|
CA10424256 rs782414538 |
1361 | F>S | No |
ClinGen ExAC gnomAD |
|
CA329008413 rs782358138 |
1363 | E>K | No |
ClinGen Ensembl |
|
rs781974747 CA10424254 |
1365 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1557150510 CA413343498 |
1368 | S>G | No |
ClinGen gnomAD |
|
rs200980554 CA10424253 |
1368 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200980554 CA413343491 |
1368 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs183721653 CA10424252 |
1371 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10424251 rs782642108 |
1374 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA329008397 VAR_041327 rs55879434 |
1375 | T>I | No |
ClinGen UniProt dbSNP gnomAD |
|
rs1403125302 CA413343212 |
1379 | Q>P | No |
ClinGen TOPMed gnomAD |
|
CA10424250 rs145423484 |
1381 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781904194 CA10424248 |
1384 | E>* | No |
ClinGen ExAC |
|
rs782583912 CA10424247 |
1384 | E>D | No |
ClinGen ExAC gnomAD |
|
rs868969709 CA413343056 |
1386 | A>S | No |
ClinGen TOPMed |
|
rs868969709 CA413343061 |
1386 | A>T | No |
ClinGen TOPMed |
|
rs1557150463 CA413343041 |
1387 | T>S | No |
ClinGen gnomAD |
|
CA10424246 rs782461541 |
1390 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374273753 CA329008357 |
1392 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
rs781830908 COSM1123346 CA10424245 |
1393 | S>L | endometrium skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA413342905 rs1557150451 |
1395 | S>P | No |
ClinGen gnomAD |
|
rs1490006571 CA413342864 |
1397 | E>K | No |
ClinGen TOPMed |
|
CA413342847 rs1557150446 |
1398 | K>E | No |
ClinGen gnomAD |
|
CA413342715 rs1268940996 |
1403 | Q>P | No |
ClinGen TOPMed gnomAD |
|
CA413342709 rs1557150435 |
1404 | E>Q | No |
ClinGen gnomAD |
|
CA10424242 rs781864619 |
1407 | K>E | No |
ClinGen ExAC gnomAD |
|
CA413342649 rs781864619 |
1407 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA10424241 rs782782407 |
1407 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782155575 CA10424240 |
1411 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424239 rs781916557 |
1412 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782563888 CA10424237 |
1414 | K>E | No |
ClinGen 1000Genomes ExAC |
|
CA413342432 rs1419385386 |
1415 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA413342360 rs1557150411 |
1418 | N>T | No |
ClinGen gnomAD |
|
CA16608956 RCV000425408 rs1057524673 |
1423 | S>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
rs781995218 CA10424235 |
1424 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413342179 rs1426504599 |
1426 | C>S | No |
ClinGen TOPMed |
|
CA10424233 rs782692764 |
1428 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1303725191 CA413342108 |
1429 | D>G | No |
ClinGen TOPMed |
|
rs782308944 CA10424232 |
1430 | V>A | No |
ClinGen ExAC gnomAD |
|
rs782198665 CA10424231 |
1431 | S>P | No |
ClinGen ExAC gnomAD |
|
CA10424230 rs782598022 |
1433 | V>L | No |
ClinGen ExAC gnomAD |
|
rs782496409 CA10424229 |
1434 | T>S | No |
ClinGen ExAC |
|
rs1296662761 CA413341881 |
1439 | F>C | No |
ClinGen TOPMed gnomAD |
|
RCV000584908 rs1557150367 CA413341776 |
1444 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA413341649 rs1392269889 |
1449 | M>V | No |
ClinGen TOPMed |
|
CA413341544 rs1312487747 |
1453 | S>F | No |
ClinGen TOPMed |
|
rs1010731015 CA329008186 |
1456 | L>F | No |
ClinGen TOPMed |
|
rs781896072 CA10424225 |
1458 | K>E | No |
ClinGen ExAC gnomAD |
|
rs782704749 CA10424224 |
1460 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1557150342 CA413341348 |
1462 | I>R | No |
ClinGen gnomAD |
|
CA10424223 rs782060243 |
1462 | I>V | No |
ClinGen ExAC gnomAD |
|
CA413341276 rs1248776858 |
1466 | G>E | No |
ClinGen TOPMed |
|
CA413341264 rs1293219673 |
1467 | K>E | No |
ClinGen TOPMed |
|
CA413341201 rs1603378895 |
1469 | P>L | No |
ClinGen Ensembl |
|
CA413341162 rs1557150322 |
1472 | D>G | No |
ClinGen gnomAD |
|
CA413341170 rs1340841083 |
1472 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs895003487 CA329008118 |
1476 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA413341006 rs1557150309 |
1483 | G>R | No |
ClinGen gnomAD |
|
rs782135739 CA10424220 |
1485 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782018207 CA10424219 |
1488 | K>N | No |
ClinGen ExAC gnomAD |
|
rs782814352 CA10424218 |
1490 | G>D | No |
ClinGen ExAC gnomAD |
|
CA10424217 rs376399429 |
1491 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
rs781939588 CA10424216 |
1492 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413340902 rs1240999666 |
1493 | S>N | No |
ClinGen TOPMed |
|
rs782346623 CA10424215 |
1493 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1055881340 CA329008067 |
1494 | N>S | No |
ClinGen Ensembl |
|
rs937375026 CA329008044 |
1496 | C>R | No |
ClinGen Ensembl |
|
rs1164114808 CA413340845 |
1497 | L>F | No |
ClinGen TOPMed |
|
CA10424212 rs149043219 COSM248353 RCV000910385 |
1501 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA10424209 rs782434295 |
1505 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1462661271 CA413340711 |
1508 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs144870410 CA329008001 |
1512 | L>F | No |
ClinGen ESP gnomAD |
|
CA413340650 rs1569536232 |
1513 | F>L | No |
ClinGen Ensembl |
|
rs1557150252 CA413340643 |
1514 | Y>C | No |
ClinGen gnomAD |
|
rs1381022082 CA413340628 |
1515 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs782495607 CA413340579 |
1520 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782495607 CA10424206 |
1520 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413340585 rs1316269346 |
1520 | M>V | No |
ClinGen TOPMed |
|
CA413340573 rs1274544232 |
1521 | S>G | No |
ClinGen TOPMed |
|
CA413340555 rs1557150236 |
1522 | S>N | No |
ClinGen gnomAD |
|
CA10424205 rs781851151 |
1523 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1307607722 CA413340524 |
1524 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs929982592 CA329007976 |
1534 | K>R | No |
ClinGen TOPMed |
|
rs918834673 CA329007974 |
1535 | V>A | No |
ClinGen Ensembl |
|
CA413340420 rs1557150216 |
1538 | Q>R | No |
ClinGen gnomAD |
|
CA10424204 rs782798378 |
1543 | K>I | No |
ClinGen ExAC gnomAD |
|
rs782798378 CA413340384 |
1543 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1557149375 CA413339517 |
1548 | V>A | No |
ClinGen gnomAD |
|
rs1569536143 CA413339506 |
1549 | V>G | No |
ClinGen Ensembl |
|
CA10424200 rs782086003 |
1553 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413339431 rs1557149363 |
1555 | Q>H | No |
ClinGen gnomAD |
|
rs187102838 CA10424197 |
1561 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10424195 rs150271543 |
1565 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
COSM1123338 rs1192392222 CA413339311 |
1565 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs782179137 CA10424194 |
1567 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413339294 rs1557149344 |
1567 | R>W | No |
ClinGen gnomAD |
|
rs1194158150 CA413339231 |
1572 | S>I | No |
ClinGen TOPMed |
|
rs377009916 CA10424193 |
1574 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557149318 CA413339192 |
1576 | S>T | No |
ClinGen gnomAD |
|
CA413339143 rs1557149314 |
1580 | P>L | No |
ClinGen gnomAD |
|
rs201518613 CA10424191 |
1587 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10424190 rs782639623 |
1588 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424188 rs782290033 |
1592 | F>S | No |
ClinGen ExAC gnomAD |
|
CA329006555 rs988114050 |
1596 | L>V | No |
ClinGen Ensembl |
|
rs958055900 CA329006553 |
1597 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs782572831 CA10424187 |
1599 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782454662 CA10424186 |
1599 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413338948 rs1557149292 |
1600 | P>S | No |
ClinGen TOPMed |
|
rs1330942169 CA413338937 |
1601 | Q>R | No |
ClinGen TOPMed |
|
rs1557149282 CA413338905 |
1604 | T>A | No |
ClinGen gnomAD |
|
rs1557149280 CA413338889 |
1605 | H>R | No |
ClinGen gnomAD |
|
CA413338576 rs1557148354 |
1614 | G>E | No |
ClinGen gnomAD |
|
CA413338535 rs1557148352 |
1617 | C>* | No |
ClinGen gnomAD |
|
CA10424175 rs782368964 |
1622 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1253641535 CA413334942 |
1624 | N>I | No |
ClinGen TOPMed gnomAD |
|
rs1557141813 CA413334938 |
1624 | N>K | No |
ClinGen gnomAD |
|
CA413334936 rs1557141809 |
1625 | P>T | No |
ClinGen gnomAD |
|
rs1425249218 CA413334925 |
1626 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs994592566 CA328993143 |
1627 | C>Y | No |
ClinGen Ensembl |
|
CA413334910 rs1557141798 |
1628 | V>M | No |
ClinGen gnomAD |
|
CA328993132 rs900353213 |
1636 | Q>E | No |
ClinGen Ensembl |
|
rs782698755 CA10424162 |
1636 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs782462161 CA10424159 |
1643 | K>T | No |
ClinGen ExAC |
|
rs781819566 CA10424158 |
1646 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1422572787 CA413334712 |
1646 | F>Y | No |
ClinGen TOPMed |
|
rs1463898930 CA413334643 |
1652 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA10424156 rs782116364 |
1656 | D>N | No |
ClinGen ExAC gnomAD |
|
rs142607795 CA10424155 |
1665 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557141766 CA413334505 |
1666 | L>F | No |
ClinGen Ensembl |
|
rs1557141762 CA413334502 |
1666 | L>H | No |
ClinGen gnomAD |
|
rs782819287 CA10424154 |
1667 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1302393067 CA413334424 |
1673 | Q>R | No |
ClinGen TOPMed |
|
rs1557141752 CA413334397 |
1675 | K>N | No |
ClinGen gnomAD |
|
CA10424153 rs782152711 |
1676 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10424151 rs782342462 |
1682 | E>A | No |
ClinGen ExAC gnomAD |
|
rs782106434 CA10424150 |
1683 | T>A | No |
ClinGen ExAC gnomAD |
|
rs782025064 CA10424149 |
1686 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413334279 rs782025064 |
1686 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1557141728 CA413334255 |
1688 | K>Q | No |
ClinGen gnomAD |
|
rs782605253 CA10424142 |
1692 | N>D | No |
ClinGen ExAC gnomAD |
|
CA413340360 rs1459930052 |
1693 | T>S | No |
ClinGen TOPMed |
|
rs147722907 CA10424141 |
1694 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA413340358 rs1603369560 |
1694 | P>S | No |
ClinGen Ensembl |
|
rs374105382 CA10424139 |
1696 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10424138 rs192899527 |
1696 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413340339 rs1557140935 |
1697 | M>T | No |
ClinGen gnomAD |
|
CA10424137 rs781792497 |
1698 | G>C | No |
ClinGen ExAC gnomAD |
|
CA413340325 rs1229442170 |
1699 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA413340316 rs1557140917 |
1700 | T>I | No |
ClinGen gnomAD |
|
rs1557140907 CA413340305 |
1702 | T>I | No |
ClinGen gnomAD |
|
CA10424135 rs781802718 |
1702 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA328987457 rs947312556 |
1705 | S>F | No |
ClinGen Ensembl |
|
rs1557140906 CA413340278 |
1706 | S>F | No |
ClinGen gnomAD |
|
CA10424133 rs782781504 |
1708 | S>C | No |
ClinGen ExAC gnomAD |
|
rs782139722 CA10424132 |
1709 | Q>P | No |
ClinGen ExAC gnomAD |
|
COSM141639 CA413340251 rs1216100438 |
1711 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1557140894 CA413340249 |
1711 | R>H | No |
ClinGen gnomAD |
|
rs140063797 CA10424131 |
1713 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
CA413340235 rs1557140889 |
1714 | V>L | No |
ClinGen gnomAD |
|
rs782817875 CA10424130 |
1715 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA328987420 rs151287033 |
1716 | T>N | No |
ClinGen ESP |
|
CA10424129 rs782044624 |
1719 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1557140872 CA413340190 |
1721 | G>A | No |
ClinGen gnomAD |
|
CA413340186 rs1480036312 |
1722 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA413340187 rs1480036312 |
1722 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA10424127 rs782332392 |
1723 | S>P | No |
ClinGen ExAC gnomAD |
|
CA10424125 rs781979498 |
1724 | L>F | No |
ClinGen ExAC gnomAD |
|
CA10424124 rs782683979 |
1725 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413340166 rs1415413427 |
1726 | S>P | No |
ClinGen TOPMed |
|
rs1569534710 CA413340158 |
1727 | F>Y | No |
ClinGen Ensembl |
|
rs914392824 CA328987409 |
1728 | P>L | No |
ClinGen Ensembl |
|
rs1476108519 CA413340151 |
1728 | P>S | No |
ClinGen TOPMed |
|
rs1557140839 CA413340140 COSM1123328 |
1730 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1603369477 CA413340128 |
1732 | S>P | No |
ClinGen Ensembl |
|
rs1165436691 CA413340122 |
1733 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA413340096 rs868921968 |
1736 | M>I | No |
ClinGen Ensembl |
|
CA10424122 rs782569664 |
1736 | M>R | No |
ClinGen ExAC gnomAD |
|
rs782457700 CA10424121 |
1738 | H>P | No |
ClinGen ExAC gnomAD |
|
CA413340081 rs782629234 |
1739 | V>F | No |
ClinGen ExAC gnomAD |
|
CA10424119 rs782629234 |
1739 | V>I | No |
ClinGen ExAC gnomAD |
|
CA413340074 rs1557140812 |
1740 | C>Y | No |
ClinGen gnomAD |
|
rs1557140804 CA413340057 |
1742 | Y>C | No |
ClinGen gnomAD |
|
rs1372717266 CA413340059 |
1742 | Y>D | No |
ClinGen TOPMed |
|
CA10424118 rs782504607 |
1743 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424117 COSM1123326 rs781877129 |
1746 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs782792961 CA10424116 |
1747 | G>R | No |
ClinGen ExAC gnomAD |
|
CA10424114 rs199996615 |
1748 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10424115 rs199996615 |
1748 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1557140773 CA413340015 |
1749 | G>V | No |
ClinGen gnomAD |
|
CA10424112 rs782079394 |
1750 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424111 rs781962583 |
1754 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782125765 CA10424110 |
1755 | V>A | No |
ClinGen ExAC gnomAD |
|
CA10424109 rs782125765 |
1755 | V>G | No |
ClinGen ExAC gnomAD |
|
CA413339949 rs1569534687 |
1760 | T>A | No |
ClinGen Ensembl |
|
rs1557140752 CA413339926 |
1763 | Q>R | No |
ClinGen gnomAD |
|
rs372840598 CA10424107 |
1765 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413339916 rs372840598 |
1765 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413339907 rs1603369440 |
1766 | V>A | No |
ClinGen Ensembl |
|
rs781958016 CA413339891 |
1769 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424105 rs781958016 |
1769 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10424103 COSM457769 rs782247541 |
1771 | S>F | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA413339876 rs782247541 |
1771 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs1255090791 CA413339873 |
1772 | G>R | No |
ClinGen TOPMed |
|
CA10424100 rs200621254 |
1777 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413339807 rs1557140718 |
1781 | M>R | No |
ClinGen gnomAD |
|
CA413339800 rs1557140712 |
1782 | Q>R | No |
ClinGen gnomAD |
|
rs782446596 CA10424098 |
1783 | A>T | No |
ClinGen ExAC gnomAD |
|
rs782613910 CA10424096 |
1785 | P>L | No |
ClinGen ExAC gnomAD |
|
CA10424097 rs781817419 |
1785 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413339777 rs375856558 |
1786 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375856558 CA10424095 |
1786 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781868717 CA10424094 |
1787 | S>A | No |
ClinGen ExAC gnomAD |
|
CA10424093 rs782784534 |
1788 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1430595412 CA413339759 |
1789 | V>A | No |
ClinGen TOPMed |
|
rs1392102851 CA413339763 |
1789 | V>M | No |
ClinGen TOPMed |
|
rs1557140688 CA413339755 |
1790 | Q>* | No |
ClinGen gnomAD |
|
rs1173270244 CA413339745 |
1791 | N>S | No |
ClinGen TOPMed |
|
CA10424091 rs201501755 |
1795 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10424089 rs782102982 |
1796 | P>S | No |
ClinGen ExAC gnomAD |
|
rs781991689 CA413339705 |
1797 | P>L | No |
ClinGen ExAC gnomAD |
|
rs781991689 CA10424088 |
1797 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1557140659 CA413339698 |
1798 | G>D | No |
ClinGen gnomAD |
|
rs782398134 CA10424087 |
1798 | G>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BYP7
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
4 GO annotations of cellular component
Name | Definition |
---|---|
adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
7 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
chloride channel inhibitor activity | Binds to and stops, prevents, or reduces the activity of a chloride channel. |
potassium channel inhibitor activity | Binds to and stops, prevents, or reduces the activity of a potassium channel. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
20 GO annotations of biological process
Name | Definition |
---|---|
cell volume homeostasis | Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
ion homeostasis | Any process involved in the maintenance of an internal steady state of ions within an organism or cell. |
maintenance of blood-brain barrier | Maintaining the structure and function of the blood-brain barrier, thus ensuring specific regulated transport of substances (e.g. macromolecules, small molecules, ions) into the brain, and out of the brain into the blood circulation. |
negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
negative regulation of sodium ion transport | Any process that decreases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
osmosensory signaling pathway | The series of molecular signals initiated in response to osmotic change. |
peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
positive regulation of calcium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
positive regulation of ion transmembrane transporter activity | Any process that activates or increases the activity of an ion transporter. |
positive regulation of peptidyl-threonine phosphorylation | Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
positive regulation of potassium ion import across plasma membrane | Any process that activates or increases the frequency, rate or extent of potassium ion import across the plasma membrane. |
positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
positive regulation of sodium ion transmembrane transporter activity | Any process that activates or increases the frequency, rate or extent of sodium ion transmembrane transporter activity. |
positive regulation of sodium ion transport | Any process that increases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of calcium ion import | Any process that modulates the rate, frequency, or extent of the directed movement of calcium ions into a cell or organelle. |
regulation of cation transmembrane transport | Any process that modulates the frequency, rate or extent of cation transmembrane transport. |
20 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q96J92 | WNK4 | Serine/threonine-protein kinase WNK4 | Homo sapiens (Human) | SS |
P51957 | NEK4 | Serine/threonine-protein kinase Nek4 | Homo sapiens (Human) | PR |
Q9Y3S1 | WNK2 | Serine/threonine-protein kinase WNK2 | Homo sapiens (Human) | SS |
Q9UHY1 | NRBP1 | Nuclear receptor-binding protein | Homo sapiens (Human) | PR |
Q9H4A3 | WNK1 | Serine/threonine-protein kinase WNK1 | Homo sapiens (Human) | SS |
Q9Y2U5 | MAP3K2 | Mitogen-activated protein kinase kinase kinase 2 | Homo sapiens (Human) | PR |
Q99759 | MAP3K3 | Mitogen-activated protein kinase kinase kinase 3 | Homo sapiens (Human) | PR |
P83741 | Wnk1 | Serine/threonine-protein kinase WNK1 | Mus musculus (Mouse) | SS |
Q3UH66 | Wnk2 | Serine/threonine-protein kinase WNK2 | Mus musculus (Mouse) | SS |
Q80UE6 | Wnk4 | Serine/threonine-protein kinase WNK4 | Mus musculus (Mouse) | SS |
Q80XP9 | Wnk3 | Serine/threonine-protein kinase WNK3 | Mus musculus (Mouse) | SS |
Q6R2V0 | WNK1 | Serine/threonine-protein kinase WNK1 | Sus scrofa (Pig) | SS |
Q9JIH7 | Wnk1 | Serine/threonine-protein kinase WNK1 | Rattus norvegicus (Rat) | EV |
Q7TPK6 | Wnk4 | Serine/threonine-protein kinase WNK4 | Rattus norvegicus (Rat) | SS |
X5M5N0 | wnk-1 | Serine/threonine-protein kinase WNK | Caenorhabditis elegans | SS |
Q8RXE5 | WNK10 | Probable serine/threonine-protein kinase WNK10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q944Q0 | WNK8 | Serine/threonine-protein kinase WNK8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LVL5 | WNK4 | Probable serine/threonine-protein kinase WNK4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9STK6 | WNK3 | Probable serine/threonine-protein kinase WNK3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8LST2 | WNK7 | Probable serine/threonine-protein kinase WNK7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MATDSGDPAS | TEDSEKPDGI | SFENRVPQVA | ATLTVEARLK | EKNSTFSASG | ETVERKRFFR |
70 | 80 | 90 | 100 | 110 | 120 |
KSVEMTEDDK | VAESSPKDER | IKAAMNIPRV | DKLPSNVLRG | GQEVKYEQCS | KSTSEISKDC |
130 | 140 | 150 | 160 | 170 | 180 |
FKEKNEKEME | EEAEMKAVAT | SPSGRFLKFD | IELGRGAFKT | VYKGLDTETW | VEVAWCELQD |
190 | 200 | 210 | 220 | 230 | 240 |
RKLTKAEQQR | FKEEAEMLKG | LQHPNIVRFY | DSWESILKGK | KCIVLVTELM | TSGTLKTYLK |
250 | 260 | 270 | 280 | 290 | 300 |
RFKVMKPKVL | RSWCRQILKG | LQFLHTRTPP | IIHRDLKCDN | IFITGPTGSV | KIGDLGLATL |
310 | 320 | 330 | 340 | 350 | 360 |
MRTSFAKSVI | GTPEFMAPEM | YEEHYDESVD | VYAFGMCMLE | MATSEYPYSE | CQNAAQIYRK |
370 | 380 | 390 | 400 | 410 | 420 |
VTSGIKPASF | NKVTDPEVKE | IIEGCIRQNK | SERLSIRDLL | NHAFFAEDTG | LRVELAEEDD |
430 | 440 | 450 | 460 | 470 | 480 |
CSNSSLALRL | WVEDPKKLKG | KHKDNEAIEF | SFNLETDTPE | EVAYEMVKSG | FFHESDSKAV |
490 | 500 | 510 | 520 | 530 | 540 |
AKSIRDRVTP | IKKTREKKPA | GCLEERRDSQ | CKSMGNVFPQ | PQNTTLPLAP | AQQTGAECEE |
550 | 560 | 570 | 580 | 590 | 600 |
TEVDQHVRQQ | LLQRKPQQHC | SSVTGDNLSE | AGAASVIHSD | TSSQPSVAYS | SNQTMGSQMV |
610 | 620 | 630 | 640 | 650 | 660 |
SNIPQAEVNV | PGQIYSSQQL | VGHYQQVSGL | QKHSKLTQPQ | ILPLVQGQST | VLPVHVLGPT |
670 | 680 | 690 | 700 | 710 | 720 |
VVSQPQVSPL | TVQKVPQIKP | VSQPVGAEQQ | AALLKPDLVR | SLNQDVATTK | ENVSSPDNPS |
730 | 740 | 750 | 760 | 770 | 780 |
GNGKQDRIKQ | RRASCPRPEK | GTKFQLTVLQ | VSTSGDNMVE | CQLETHNNKM | VTFKFDVDGD |
790 | 800 | 810 | 820 | 830 | 840 |
APEDIADYMV | EDNFVLESEK | EKFVEELRAI | VGQAQEILHV | HFATERATGV | DSITVDSNSS |
850 | 860 | 870 | 880 | 890 | 900 |
QTGSSEQVQI | NSTSTQTSNE | SAPQSSPVGR | WRFCINQTIR | NRETQSPPSL | QHSMSAVPGR |
910 | 920 | 930 | 940 | 950 | 960 |
HPLPSPKNTS | NKEISRDTLL | TIENNPCHRA | LFTSKSEHKD | VVDGKISECA | SVETKQPAIL |
970 | 980 | 990 | 1000 | 1010 | 1020 |
YQVEDNRQIM | APVTNSSSYS | TTSVRAVPAE | CEGLTKQASI | FIPVYPCHQT | ASQADALMSH |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
PGESTQTSGN | SLTTLAFDQK | PQTLSVQQPA | MDAEFISQEG | ETTVNTEASS | PKTVIPTQTP |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
GLEPTTLQPT | TVLESDGERP | PKLEFADNRI | KTLDEKLRNL | LYQEHSISSI | YPESQKDTQS |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
IDSPFSSSAE | DTLSCPVTEV | IAISHCGIKD | SPVQSPNFQQ | TGSKLLSNVA | ASQPANISVF |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
KRDLNVITSV | PSELCLHEMS | SDASLPGDPE | AYPAAVSSGG | AIHLQTGGGY | FGLSFTCPSL |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
KNPISKKSWT | RKLKSWAYRL | RQSTSFFKRS | KVRQVETEEM | RSAIAPDPIP | LTRESTADTR |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
ALNRCKAMSG | SFQRGRFQVI | TIPQQQSAKM | TSFGIEHISV | FSETNHSSEE | AFIKTAKSQL |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
VEIEPATQNP | KTSFSYEKLQ | ALQETCKENK | GVPKQGDNFL | SFSAACETDV | SSVTPEKEFE |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
ETSATGSSMQ | SGSELLLKER | EILTAGKQPS | SDSEFSASLA | GSGKSVAKTG | PESNQCLPHH |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
EEQAYAQTQS | SLFYSPSSPM | SSDDESEIED | EDLKVELQRL | REKHIQEVVN | LQTQQNKELQ |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
ELYERLRSIK | DSKTQSTEIP | LPPASPRRPR | SFKSKLRSRP | QSLTHVDNGI | VATGKSCLIN |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
ELENPLCVES | NAASCQQSPA | SKKGMFTDDL | HKLVDDWTKE | AVGNSLIKPS | LNQLKQSQHK |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
LETENWNKVS | ENTPSTMGYT | STWISSLSQI | RGAVPTSLPQ | GLSLPSFPGP | LSSYGMPHVC |
1750 | 1760 | 1770 | 1780 | 1790 | |
QYNAVAGAGY | PVQWVGISGT | TQQSVVIPAQ | SGGPFQPGMN | MQAFPTSSVQ | NPATIPPGPK |