Q15139
EV
Gene name |
PRKD1 (PKD, PKD1, PRKCM) |
Protein name |
Serine/threonine-protein kinase D1 |
Names |
Protein kinase C mu type, Protein kinase D, nPKC-D1, nPKC-mu |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5587 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
PROTEIN KINASE C, MU (PTHR22968) |
Descriptions
Protein kinase D (PKD) is a member of Ser/Thr kinases and plays a major role in Golgi function and organization. The PH domain within the PKD inhibits the function of the PKD. When PH domain is phosphorylated or deleted, the function of PKD is recovered.
Autoinhibitory domains (AIDs)
Target domain |
583-839 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
726-748 (Activation loop from InterPro)
Target domain |
583-839 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q15139
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15139-F1 | Predicted | AlphaFoldDB |
682 variants for Q15139
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1886101666 RCV001334079 |
106 | H>R | Congenital heart defects and ectodermal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001334080 rs1168333527 CA389477578 |
149 | L>V | Congenital heart defects and ectodermal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1462349007 RCV001262271 |
166 | M>V | Congenital heart defects and ectodermal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145651161 RCV001002742 RCV000903323 CA7141426 |
216 | R>G | Premature ovarian failure [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000417210 rs1057519636 CA16044436 VAR_078602 |
299 | L>W | Congenital heart defects and ectodermal dysplasia CHDED [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000989200 rs1439477100 CA389335571 |
439 | R>Q | Congenital heart defects and ectodermal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1181038822 RCV001334075 COSM300802 CA389335559 COSM300801 |
441 | R>Q | large_intestine Congenital heart defects and ectodermal dysplasia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001198618 CA7141150 rs142868862 |
486 | G>R | Congenital heart defects and ectodermal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000417214 rs1057519635 CA16044435 VAR_078603 |
592 | G>R | Congenital heart defects and ectodermal dysplasia CHDED [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA7141006 rs565275870 RCV001334077 |
649 | F>L | Congenital heart defects and ectodermal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1178340 RCV000149135 COSM1178341 CA174424 rs193921103 |
665 | D>N | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs752897300 RCV001293861 CA7140938 |
740 | R>Q | Congenital heart defects and ectodermal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1338550415 CA389478569 |
2 | S>C | No |
ClinGen TOPMed |
|
|
CA389478566 rs1379643068 |
2 | S>N | No |
ClinGen TOPMed |
|
|
CA389478563 rs1238193299 |
2 | S>R | No |
ClinGen gnomAD |
|
|
CA389478559 rs1471546218 |
3 | A>S | No |
ClinGen TOPMed |
|
|
rs954921933 CA258529143 |
5 | P>A | No |
ClinGen TOPMed |
|
|
rs572057574 CA258529131 RCV000971941 |
7 | L>P | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
CA389478533 rs1481132541 |
8 | R>W | No |
ClinGen gnomAD |
|
|
CA389478527 rs1327159015 |
9 | P>S | No |
ClinGen TOPMed |
|
|
rs1257039229 CA389478508 |
12 | P>A | No |
ClinGen TOPMed |
|
|
rs1199048559 CA389478500 |
13 | L>P | No |
ClinGen TOPMed |
|
|
CA7141591 rs762319781 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410593104 CA389478488 |
16 | V>L | No |
ClinGen TOPMed |
|
|
rs1288341678 CA389478477 |
17 | A>E | No |
ClinGen gnomAD |
|
|
CA389478473 rs1227191203 |
18 | A>E | No |
ClinGen gnomAD |
|
|
rs1348119081 CA389478465 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs570805784 CA7141590 |
20 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401121972 CA389478454 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs1300856881 CA389478436 |
24 | A>V | No |
ClinGen gnomAD |
|
|
rs1300915219 CA389478433 |
25 | A>T | No |
ClinGen TOPMed |
|
|
rs1410741852 CA389478419 |
27 | L>R | No |
ClinGen TOPMed |
|
|
CA258529080 rs888306698 |
28 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1348720011 CA389478408 |
29 | P>R | No |
ClinGen TOPMed |
|
|
RCV000953327 rs45471692 |
31 | S>missing | No |
ClinVar dbSNP |
|
|
CA389478394 rs780405671 |
32 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7141586 rs780405671 |
32 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs200987283 CA7141583 |
33 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA389478377 rs1376373898 |
35 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1594633937 CA389478369 |
36 | A>G | No |
ClinGen Ensembl |
|
|
rs780996268 CA7141578 |
36 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA389478354 rs1462953494 |
38 | F>L | No |
ClinGen gnomAD |
|
|
CA389478343 rs1264254616 |
40 | A>D | No |
ClinGen gnomAD |
|
|
rs1264254616 CA389478342 |
40 | A>G | No |
ClinGen gnomAD |
|
|
CA7141577 rs754744487 |
41 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA389478336 rs1425231482 |
41 | P>L | No |
ClinGen TOPMed |
|
|
CA389478333 rs1347848366 |
42 | V>I | No |
ClinGen gnomAD |
|
|
rs762581027 CA389478319 |
44 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs762581027 CA7141574 |
44 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1339474902 CA389478313 COSM552797 COSM552796 |
45 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1339474902 CA389478314 |
45 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7141572 rs764734027 |
46 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA389478308 rs764734027 |
46 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs762255097 CA7141571 |
47 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1383266974 CA389478303 |
47 | G>V | No |
ClinGen gnomAD |
|
|
rs1319743535 CA389478299 |
48 | G>D | No |
ClinGen gnomAD |
|
|
rs777232677 CA7141569 |
50 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761092661 CA7141567 |
52 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs866390794 CA258528988 |
53 | L>P | No |
ClinGen Ensembl |
|
|
CA258528986 rs937302129 |
54 | Q>L | No |
ClinGen TOPMed |
|
|
CA389478238 rs1368065188 |
58 | S>C | No |
ClinGen gnomAD |
|
|
rs775924887 CA7141566 |
58 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1244141439 CA389478232 |
59 | R>G | No |
ClinGen gnomAD |
|
|
rs746045993 CA7141564 |
60 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746045993 CA389478227 |
60 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771004324 CA7141562 |
61 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs867424371 CA258528970 |
61 | P>S | No |
ClinGen Ensembl |
|
|
rs781075980 CA7141560 |
65 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389478195 rs1379270487 |
66 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1223296694 CA389478188 |
67 | D>N | No |
ClinGen TOPMed |
|
|
CA7141558 rs537554301 |
68 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389478176 rs537554301 |
68 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389478167 rs1318916078 |
70 | G>E | No |
ClinGen gnomAD |
|
|
CA7141557 rs751340826 |
70 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757989634 CA7141555 |
71 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779837679 CA7141556 |
71 | D>Y | No |
ClinGen ExAC |
|
|
CA7141554 rs750048298 |
73 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161840129 CA389478140 |
74 | L>P | No |
ClinGen gnomAD |
|
|
rs1168314502 CA389478103 |
80 | M>V | No |
ClinGen gnomAD |
|
|
CA389478087 rs1474657301 |
82 | C>G | No |
ClinGen gnomAD |
|
|
CA389478088 rs1474657301 |
82 | C>R | No |
ClinGen gnomAD |
|
|
CA7141553 rs570120351 |
83 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756773077 CA7141552 |
84 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA389478066 rs1594633733 |
85 | V>A | No |
ClinGen Ensembl |
|
|
CA389478060 rs1224162088 |
86 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA389478064 rs761182562 |
86 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761182562 CA7141549 |
86 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761182562 CA7141550 |
86 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141548 rs776012597 |
87 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA389478056 rs776012597 |
87 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1273532163 CA389478052 |
87 | Q>H | No |
ClinGen gnomAD |
|
|
CA389478021 rs1394141478 |
89 | F>S | No |
ClinGen TOPMed |
|
|
CA7141525 rs45458201 |
90 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM223681 COSM223682 RCV000910127 rs45458201 CA7141524 |
90 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7141523 rs746966229 |
92 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1175031169 CA389477994 |
93 | G>V | No |
ClinGen gnomAD |
|
|
CA258492961 rs923994437 |
95 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7141521 rs771807174 |
96 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186546402 CA389477976 |
96 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs144702345 CA7141520 |
97 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144702345 CA389477964 |
97 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7141518 rs756986441 |
98 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778489882 CA7141519 |
98 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7141517 rs748884789 |
99 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1594461847 CA389477928 |
103 | L>F | No |
ClinGen Ensembl |
|
|
rs755637573 CA7141514 |
104 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM698004 CA389477915 rs1434470951 COSM698005 |
105 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM955183 CA7141513 rs368595371 COSM955184 |
105 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA389477911 rs541190639 |
106 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7141512 rs541190639 RCV000923330 |
106 | H>Y | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs751965170 CA7141510 |
107 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755355328 CA7141511 |
107 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766662438 CA7141509 |
108 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1199087676 CA389477886 |
110 | S>A | No |
ClinGen gnomAD |
|
|
rs200796569 CA7141507 |
110 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200796569 CA389477885 |
110 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA258492960 rs375691283 |
111 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765346110 CA7141506 |
115 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA389477842 rs1442490026 |
117 | V>L | No |
ClinGen gnomAD |
|
|
CA7141505 rs761853569 |
119 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464365274 CA389477819 |
120 | A>V | No |
ClinGen gnomAD |
|
|
CA7141503 rs772034885 |
122 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1213669408 CA389477800 |
123 | I>T | No |
ClinGen gnomAD |
|
|
CA258492958 rs888840499 |
123 | I>V | No |
ClinGen Ensembl |
|
|
CA7141501 rs774201493 |
126 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389477777 rs774201493 |
126 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7141499 COSM284267 COSM284268 rs370180862 |
127 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1317605817 CA389477764 |
128 | L>H | No |
ClinGen gnomAD |
|
|
rs1361837836 CA389477759 |
129 | I>T | No |
ClinGen gnomAD |
|
|
rs1340655246 CA389477742 |
132 | V>I | No |
ClinGen TOPMed |
|
|
CA389477721 rs1399904745 |
135 | A>S | No |
ClinGen TOPMed |
|
|
CA7141478 rs780784905 |
137 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144928679 CA7141477 |
137 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7141475 rs373748041 |
145 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7141473 rs150250622 |
147 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249972372 CA389477585 |
148 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA389477575 rs1566525326 |
149 | L>P | No |
ClinGen Ensembl |
|
|
rs1369969231 CA389477555 COSM1607591 COSM1607590 |
152 | H>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1383618278 COSM33112 VAR_035468 CA389477557 COSM95080 |
152 | H>Y | a colorectal cancer sample; somatic mutation large_intestine breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1458158237 CA389477544 |
154 | Y>H | No |
ClinGen TOPMed |
|
|
CA7141469 rs753967823 |
155 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA7141468 rs141019572 |
155 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7141467 rs756128592 |
157 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA389477521 rs1283463181 |
158 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766405386 CA7141465 |
162 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA258486144 rs1048849748 |
164 | G>R | No |
ClinGen Ensembl |
|
|
CA389477467 rs1220335009 |
165 | E>A | No |
ClinGen Ensembl |
|
|
CA389477463 rs1462349007 |
166 | M>L | No |
ClinGen gnomAD |
|
|
CA258486142 rs373078366 |
169 | G>E | No |
ClinGen ESP |
|
|
rs193019782 CA258486143 |
169 | G>W | No |
ClinGen 1000Genomes |
|
|
rs1174219763 CA389477422 COSM955178 COSM955177 |
172 | R>H | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA389477407 rs1431555369 |
174 | G>D | No |
ClinGen gnomAD |
|
|
CA258486140 rs201650185 |
177 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7141462 rs764900497 |
177 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1179272987 CA389477385 |
178 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs767636075 CA7141447 |
181 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389340350 rs1161561079 |
181 | G>S | No |
ClinGen gnomAD |
|
|
rs765126230 CA7141444 |
185 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761478825 CA7141443 |
188 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389340296 rs1482424585 |
188 | C>W | No |
ClinGen gnomAD |
|
|
CA389340290 rs1469534185 |
189 | A>V | No |
ClinGen TOPMed |
|
|
rs1356392254 CA389340264 |
193 | P>S | No |
ClinGen TOPMed |
|
|
rs1356392254 CA389340266 |
193 | P>T | No |
ClinGen TOPMed |
|
|
CA7141442 rs199696760 |
194 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772694415 COSM552802 CA7141440 COSM552803 |
197 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA389340236 rs772694415 |
197 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs200522575 CA7141438 |
197 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760058972 CA389340230 COSM3377389 COSM3377390 |
198 | G>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760058972 CA7141437 |
198 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389340215 rs1454423505 |
200 | R>S | No |
ClinGen gnomAD |
|
|
rs774699377 CA7141436 |
200 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7141434 rs749612527 |
201 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141435 rs771368542 |
201 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778140544 CA7141433 |
202 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141432 rs769911269 |
203 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA257958114 rs1030717923 |
203 | R>S | No |
ClinGen TOPMed |
|
|
rs535910403 CA7141431 |
204 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750421913 CA7141429 |
207 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750421913 CA7141428 |
207 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369510669 CA389340171 |
209 | L>I | No |
ClinGen gnomAD |
|
|
CA7141427 rs778708427 |
210 | T>A | No |
ClinGen ExAC |
|
|
rs909528168 CA257958113 |
211 | G>V | No |
ClinGen Ensembl |
|
|
CA389340155 rs1479982933 |
212 | V>I | No |
ClinGen TOPMed |
|
|
rs973668644 CA257958112 |
214 | T>I | No |
ClinGen TOPMed |
|
|
rs145651161 CA7141425 COSM955175 COSM955176 |
216 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7141424 rs763885568 |
216 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389340103 rs1263199338 |
220 | A>P | No |
ClinGen gnomAD |
|
|
CA389340101 rs1263199338 |
220 | A>S | No |
ClinGen gnomAD |
|
|
rs781709887 CA7141423 |
220 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA389340091 rs1169827045 |
221 | E>K | No |
ClinGen TOPMed |
|
|
rs984053198 CA257958109 |
222 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs201537930 CA7141422 |
223 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767063420 CA7141421 |
224 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs571479464 CA7141420 |
224 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA257958108 rs889705395 |
225 | S>G | No |
ClinGen TOPMed |
|
|
CA7141418 rs369863220 |
228 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7141416 rs763449454 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA389339938 rs1291517960 |
231 | L>F | No |
ClinGen TOPMed |
|
|
rs1400741746 CA389339933 |
231 | L>P | No |
ClinGen gnomAD |
|
|
CA7141415 rs773478450 |
232 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777656334 CA7141385 |
234 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA257953802 rs377705572 |
238 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1474962516 CA389337571 |
239 | S>A | No |
ClinGen TOPMed |
|
|
rs80271647 CA7141384 |
239 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA257953799 rs1042589965 |
242 | G>C | No |
ClinGen Ensembl |
|
|
CA389337547 COSM3419761 COSM3419760 rs1239799730 |
243 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA257953796 rs754654624 |
243 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA7141381 rs754654624 |
243 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7141380 rs751173609 |
244 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA257953793 rs955348763 |
244 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs371729236 CA7141379 |
245 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1442579517 CA389337530 |
246 | R>T | No |
ClinGen gnomAD |
|
|
rs1386944625 CA389337496 |
251 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7141377 rs750955192 |
252 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA389337481 rs1485536457 |
253 | I>N | No |
ClinGen gnomAD |
|
|
rs1485536457 CA389337480 |
253 | I>T | No |
ClinGen gnomAD |
|
|
CA7141376 rs765821685 |
255 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA257953790 rs765821685 |
255 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7141375 rs762349599 |
255 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7141373 rs148748320 |
256 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7141372 rs148748320 |
256 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389337467 rs1286280237 |
256 | P>S | No |
ClinGen TOPMed |
|
|
rs1232877838 CA389337465 |
257 | I>V | No |
ClinGen TOPMed |
|
|
rs775762487 CA7141371 |
258 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1338710717 CA389337449 |
259 | L>F | No |
ClinGen gnomAD |
|
|
rs938099941 CA257953783 |
259 | L>P | No |
ClinGen Ensembl |
|
|
CA389337445 rs1246829999 |
260 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389337446 rs1246829999 |
260 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1315368486 CA389337437 |
261 | K>E | No |
ClinGen gnomAD |
|
|
CA257953778 rs921106234 |
261 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs926654893 CA257953776 |
262 | I>T | No |
ClinGen Ensembl |
|
|
CA7141369 rs745957667 |
264 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1401358361 CA389337401 |
266 | K>T | No |
ClinGen gnomAD |
|
|
rs773192785 CA7141368 |
267 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA7141367 rs201154013 |
268 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165306493 CA389337370 |
271 | H>Y | No |
ClinGen gnomAD |
|
|
rs776884682 CA257953768 |
272 | T>I | No |
ClinGen TOPMed |
|
|
rs754778936 CA7141363 |
275 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389337337 rs1378630262 |
276 | H>Y | No |
ClinGen gnomAD |
|
|
rs779749535 CA7141361 |
279 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs757900101 CA7141360 |
280 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264084845 CA389337311 |
280 | R>W | No |
ClinGen gnomAD |
|
|
rs1489936505 CA389337307 |
281 | P>A | No |
ClinGen gnomAD |
|
|
rs1267601904 CA389337301 |
282 | T>A | No |
ClinGen gnomAD |
|
|
rs757872916 CA7141357 |
286 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA389337262 rs1282153165 |
287 | C>Y | No |
ClinGen gnomAD |
|
|
CA389337229 rs1384912145 |
292 | K>R | No |
ClinGen TOPMed |
|
|
rs1369339000 CA389337204 |
296 | R>G | No |
ClinGen gnomAD |
|
|
CA257953758 rs1016932283 |
297 | Q>R | No |
ClinGen TOPMed |
|
|
CA389337168 rs1467194886 |
301 | C>S | No |
ClinGen gnomAD |
|
|
rs368658281 CA7141354 |
302 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776603600 CA7141328 |
304 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7141327 rs374588097 |
305 | R>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1594385095 CA389337111 |
307 | N>T | No |
ClinGen Ensembl |
|
|
rs760459161 CA7141326 |
311 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7141325 rs775384193 |
311 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760459161 CA389337083 |
311 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1311136848 CA389337071 |
313 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1369475 rs771614547 COSM1369476 CA7141323 |
313 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778680785 CA7141321 |
314 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA389337064 rs778680785 |
314 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs745568347 CA7141322 |
314 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1404429247 CA389337061 |
315 | K>E | No |
ClinGen gnomAD |
|
|
CA7141319 rs748794742 |
315 | K>N | No |
ClinGen ExAC |
|
|
rs867845509 CA257953708 |
318 | N>S | No |
ClinGen Ensembl |
|
|
rs1160777726 CA389337008 |
323 | E>K | No |
ClinGen gnomAD |
|
|
CA7141317 rs371303320 |
323 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389336992 rs1454185550 |
325 | T>N | No |
ClinGen TOPMed |
|
|
rs367823975 CA389336989 |
326 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367823975 CA7141316 |
326 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257953702 rs909944099 |
327 | N>S | No |
ClinGen TOPMed |
|
|
rs997897663 CA257953341 |
330 | L>W | No |
ClinGen TOPMed |
|
|
rs1376245454 CA389336568 |
332 | S>C | No |
ClinGen TOPMed |
|
|
CA389336566 rs1594383376 |
332 | S>N | No |
ClinGen Ensembl |
|
|
rs781545789 CA7141296 |
333 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1515253 COSM1515254 rs146285949 CA7141297 |
333 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1338677202 CA389336549 |
335 | A>S | No |
ClinGen TOPMed |
|
|
CA257953336 rs1039655744 |
337 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1352721384 CA389336529 |
338 | D>G | No |
ClinGen TOPMed |
|
|
rs1007852343 COSM3386513 CA257953334 COSM3386512 |
338 | D>Y | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA389336522 rs1356908036 |
339 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7141293 COSM698012 rs780325838 COSM698013 |
339 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7141290 rs765409919 |
341 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7141291 rs45460991 RCV000906367 |
341 | M>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs45460991 CA7141292 |
341 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs551209704 CA7141288 |
343 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA257953328 rs1049285710 |
344 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767549932 CA7141287 |
346 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs931029394 CA257953327 |
346 | D>N | No |
ClinGen TOPMed |
|
|
CA257953325 rs764441721 |
347 | D>G | No |
ClinGen Ensembl |
|
|
CA7141286 rs759493223 |
348 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA389336464 rs1365483457 |
348 | N>S | No |
ClinGen gnomAD |
|
|
rs1440124618 CA389336459 |
349 | D>H | No |
ClinGen TOPMed |
|
|
rs1392030138 CA389336451 |
350 | S>G | No |
ClinGen gnomAD |
|
|
rs762691633 CA7141283 |
351 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7141282 rs772705867 |
352 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1425147156 CA389336420 |
354 | S>I | No |
ClinGen gnomAD |
|
|
CA257953318 rs914626870 |
355 | G>R | No |
ClinGen Ensembl |
|
|
rs769409362 CA7141281 |
356 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141280 rs138543503 |
357 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7141279 rs371554413 |
360 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7141278 rs769155297 |
363 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257953311 rs1035592719 |
364 | M>K | No |
ClinGen Ensembl |
|
|
rs1451975495 CA389336351 |
364 | M>V | No |
ClinGen gnomAD |
|
|
CA389336337 rs1395959231 |
366 | Q>E | No |
ClinGen TOPMed |
|
|
CA389336324 rs1249665087 |
367 | D>E | No |
ClinGen gnomAD |
|
|
CA7141277 rs368126246 |
367 | D>N | No |
ClinGen ESP ExAC |
|
|
CA257953306 rs1036795627 |
369 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389336311 rs1036795627 |
369 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1180004923 CA389336301 |
371 | A>T | No |
ClinGen Ensembl |
|
|
rs1219375266 CA389336290 |
372 | M>I | No |
ClinGen gnomAD |
|
|
CA7141274 rs144613015 |
372 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257953303 rs201006752 |
373 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201006752 CA257953304 |
373 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1438968362 CA389336274 |
375 | C>R | No |
ClinGen gnomAD |
|
|
CA7141272 rs779000463 |
376 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs746144187 CA7141273 |
376 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1222061 COSM1222060 CA7141271 rs757417278 |
378 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7141268 rs755000108 |
381 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs766315428 CA7141266 |
387 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA257953292 rs914388242 |
387 | P>R | No |
ClinGen TOPMed |
|
|
rs756531990 CA389336164 |
389 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141264 rs143477228 |
390 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7141262 rs543331086 |
391 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764806592 CA7141263 |
391 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216779122 COSM1323518 CA389336147 COSM1323519 |
392 | A>G | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768104173 CA7141260 |
392 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141258 rs775947755 |
393 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7141257 rs772494452 |
394 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389336126 rs1308962706 |
396 | I>L | No |
ClinGen gnomAD |
|
|
rs534148480 CA7141235 |
399 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7141233 rs770054383 |
400 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257952972 rs1005581350 |
400 | T>S | No |
ClinGen Ensembl |
|
|
CA389336080 rs1262677657 |
401 | S>N | No |
ClinGen gnomAD |
|
|
rs758298537 CA389336013 |
409 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141230 rs758298537 |
409 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141229 rs745768342 |
411 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA389335920 rs1320387723 |
416 | T>A | No |
ClinGen gnomAD |
|
|
CA7141228 rs778620548 |
416 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389335916 rs778620548 |
416 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141225 rs763723919 |
420 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1401457986 CA389335853 |
420 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755705877 CA7141224 |
421 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434071220 CA389335804 |
424 | M>I | No |
ClinGen gnomAD |
|
|
CA257952957 COSM3955976 rs1047048755 COSM3955975 |
424 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7141223 rs752208291 |
424 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317669464 CA389335795 |
425 | K>* | No |
ClinGen gnomAD |
|
|
rs1351481098 CA389335789 |
425 | K>R | No |
ClinGen gnomAD |
|
|
rs1351481098 CA389335792 |
425 | K>T | No |
ClinGen gnomAD |
|
|
rs374628064 CA7141220 |
428 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1174177573 CA389335727 |
429 | M>K | No |
ClinGen gnomAD |
|
|
CA389335715 rs1179520663 |
430 | V>I | No |
ClinGen TOPMed |
|
|
rs149202871 CA7141219 |
434 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262718581 CA389335622 |
436 | D>V | No |
ClinGen gnomAD |
|
|
rs147718712 CA257952953 |
436 | D>Y | No |
ClinGen ESP TOPMed |
|
|
rs763394987 COSM955168 CA7141217 COSM955167 |
437 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1470247709 CA389335597 |
438 | L>P | No |
ClinGen TOPMed |
|
|
COSM1263093 rs775376594 COSM1263092 CA7141189 |
439 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7141188 rs770860312 |
441 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA389335549 rs1177587712 |
442 | H>Q | No |
ClinGen TOPMed |
|
|
rs1420277969 CA389335545 |
443 | Y>C | No |
ClinGen gnomAD |
|
|
rs749185204 CA389335517 |
447 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141187 rs749185204 |
447 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777570460 CA7141186 |
448 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA389335505 rs1484003315 |
448 | S>R | No |
ClinGen gnomAD |
|
|
rs769559001 CA7141185 |
452 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769559001 CA389335476 |
452 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141183 rs780895625 |
453 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA389335458 rs1287964203 |
455 | Q>R | No |
ClinGen gnomAD |
|
|
CA389335450 rs1374184516 |
456 | N>S | No |
ClinGen TOPMed |
|
|
CA7141182 rs754526309 |
457 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779387425 CA7141180 |
459 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381532541 CA389335420 |
461 | R>G | No |
ClinGen gnomAD |
|
|
rs758993251 CA7141179 |
462 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs866059930 CA257952217 |
467 | P>L | No |
ClinGen Ensembl |
|
|
CA7141158 rs751035735 |
468 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA257952212 rs933488181 |
469 | S>C | No |
ClinGen TOPMed |
|
|
CA389335345 rs1476622481 |
470 | E>G | No |
ClinGen gnomAD |
|
|
CA389335334 rs779548388 |
472 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA257952208 rs375675746 |
474 | L>P | No |
ClinGen ESP gnomAD |
|
|
rs200185024 CA7141154 |
476 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7141153 rs55852813 VAR_042325 |
478 | K>Q | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA389335279 rs151073459 |
481 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7141152 rs151073459 RCV000908210 |
481 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA389335239 rs1228532129 |
487 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389335241 rs1228532129 |
487 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA257952200 rs527730952 |
488 | N>S | No |
ClinGen gnomAD |
|
|
CA257952197 rs984429368 |
489 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1472224181 CA389335220 |
490 | H>R | No |
ClinGen TOPMed |
|
|
COSM184751 rs191202207 COSM2034056 CA7141149 |
493 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7141147 rs139331831 |
496 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7141146 rs370296777 |
496 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200765754 CA7141144 |
497 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA257952188 rs770660969 |
499 | V>I | No |
ClinGen Ensembl |
|
|
CA257952185 rs377166661 |
500 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs1042770328 CA257952187 |
500 | V>M | No |
ClinGen gnomAD |
|
|
rs1352748362 CA389335149 |
501 | Y>C | No |
ClinGen gnomAD |
|
|
CA7141143 rs775276952 |
502 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237528925 CA389335138 |
503 | V>M | No |
ClinGen gnomAD |
|
|
rs1341145583 CA389335125 |
505 | E>Q | No |
ClinGen TOPMed |
|
|
CA389335108 rs1456508413 |
507 | V>M | No |
ClinGen gnomAD |
|
|
CA7141140 rs778500971 |
508 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389335102 rs1275271286 |
508 | V>F | No |
ClinGen gnomAD |
|
|
CA389335095 rs1344627350 |
509 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7141139 rs757816454 |
510 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs372948278 CA7141138 |
512 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7141137 rs778250867 |
517 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA257952184 rs1001615066 |
518 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA389335037 rs1309176311 |
518 | S>T | No |
ClinGen gnomAD |
|
|
rs756406815 CA7141136 |
521 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752988965 CA7141135 |
523 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257952183 rs369255115 |
524 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369255115 CA7141133 |
524 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389334993 rs1174073303 |
526 | A>T | No |
ClinGen gnomAD |
|
|
CA389334976 rs1176682423 |
528 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7141130 rs761855942 |
528 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1472733301 CA389334973 |
529 | A>D | No |
ClinGen TOPMed |
|
|
CA7141128 rs764016558 |
529 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141129 rs764016558 |
529 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764016558 CA389334974 |
529 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146238106 CA7141127 |
531 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182681787 CA389334933 |
534 | I>R | No |
ClinGen gnomAD |
|
|
rs199654740 CA389334917 |
537 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7141126 rs199654740 |
537 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389334905 rs1276810854 |
538 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1349030943 CA389334895 |
540 | L>F | No |
ClinGen gnomAD |
|
|
CA7141123 rs143339301 |
543 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7141122 rs143339301 |
543 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749844577 CA7141121 |
544 | I>V | No |
ClinGen ExAC |
|
|
CA257952178 rs939625728 |
546 | K>N | No |
ClinGen Ensembl |
|
|
rs778142202 CA7141120 |
546 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA257952177 rs928172227 |
547 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7141119 rs756561689 |
548 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs748528317 CA7141117 |
549 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs755213384 CA7141115 |
550 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141113 rs766516564 |
551 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375956203 CA7141114 |
551 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766516564 CA389334831 |
551 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389334825 rs1159177245 |
552 | T>I | No |
ClinGen gnomAD |
|
|
CA389334829 rs1408656287 |
552 | T>P | No |
ClinGen gnomAD |
|
|
rs1472511417 CA389334814 |
554 | T>S | No |
ClinGen gnomAD |
|
|
rs1235962494 CA389334808 |
555 | N>S | No |
ClinGen TOPMed |
|
|
CA257952174 rs543218265 |
556 | L>W | No |
ClinGen 1000Genomes gnomAD |
|
|
CA389334646 rs1458985711 |
559 | D>Y | No |
ClinGen Ensembl |
|
|
CA389334639 rs1453068140 |
560 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389334628 rs1416900360 |
561 | S>C | No |
ClinGen gnomAD |
|
|
CA389334618 rs1255479113 |
563 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA257951876 rs370925513 |
565 | S>L | No |
ClinGen Ensembl |
|
|
CA389334590 rs1365419492 |
567 | S>L | No |
ClinGen TOPMed |
|
|
rs1456941976 CA389334588 |
568 | N>D | No |
ClinGen gnomAD |
|
|
CA7141085 rs765965096 |
570 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1594376123 CA389334560 |
571 | I>M | No |
ClinGen Ensembl |
|
|
rs762603694 CA7141084 |
572 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA389334539 rs1217294086 |
574 | N>I | No |
ClinGen gnomAD |
|
|
rs1304080958 CA389334534 |
575 | V>A | No |
ClinGen gnomAD |
|
|
rs772615899 CA7141083 |
575 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144093308 CA7141061 |
578 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389334112 rs1316534187 |
581 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1419164715 CA389334049 |
585 | P>L | No |
ClinGen gnomAD |
|
|
CA257951480 rs201249852 |
586 | D>G | No |
ClinGen Ensembl |
|
|
CA389334004 rs1486425877 |
588 | V>G | No |
ClinGen TOPMed |
|
|
rs1028931732 CA257951479 |
588 | V>I | No |
ClinGen TOPMed |
|
|
CA257951475 rs964788233 |
590 | G>V | No |
ClinGen TOPMed |
|
|
rs1594373748 CA389333940 |
594 | F>L | No |
ClinGen Ensembl |
|
|
rs776060214 CA7141060 |
594 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs12890759 CA257951472 |
596 | I>S | No |
ClinGen gnomAD |
|
|
CA389333907 rs12890759 |
596 | I>T | No |
ClinGen gnomAD |
|
|
CA257951470 rs12892121 |
598 | Y>F | No |
ClinGen Ensembl |
|
|
rs1016024251 CA389333868 |
599 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1016024251 CA257951467 |
599 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1348408695 CA389333860 |
600 | G>* | No |
ClinGen gnomAD |
|
|
CA7141039 rs763544663 |
600 | G>E | No |
ClinGen ExAC |
|
|
rs1412761695 CA389333753 |
602 | H>R | No |
ClinGen TOPMed |
|
|
CA257951025 rs1008608681 |
603 | R>C | No |
ClinGen Ensembl |
|
|
rs776034417 CA7141037 |
603 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7141036 rs767838096 |
608 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7141035 rs759932872 |
610 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1394697895 CA389333698 |
611 | I>V | No |
ClinGen gnomAD |
|
|
rs1427566130 CA389333675 |
614 | I>L | No |
ClinGen gnomAD |
|
|
CA389333652 rs1169500958 |
617 | L>* | No |
ClinGen gnomAD |
|
|
rs201154555 CA248371 RCV000185634 |
618 | R>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs771285195 CA7141034 |
618 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141033 rs749484989 |
620 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs773451297 CA7141032 |
623 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257951018 rs746086535 |
625 | S>I | No |
ClinGen TOPMed |
|
|
rs1211831060 CA389333597 |
625 | S>R | No |
ClinGen gnomAD |
|
|
CA389333594 rs1386625533 |
626 | Q>E | No |
ClinGen TOPMed |
|
|
rs1478411972 CA389333583 |
627 | L>P | No |
ClinGen gnomAD |
|
|
rs1469866177 COSM3786339 CA389333581 COSM3786340 |
628 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7141030 rs369851896 |
628 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7141031 rs369851896 |
628 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195410674 CA389333565 |
630 | E>V | No |
ClinGen gnomAD |
|
|
CA389333548 rs1337747894 |
633 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389332571 rs761962478 |
637 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7141012 rs761962478 |
637 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA389332565 rs1237107021 |
638 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389332552 rs776507287 |
639 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278395721 CA389332549 |
640 | P>S | No |
ClinGen gnomAD |
|
|
rs745756936 CA7141009 |
641 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149460336 CA7141010 |
641 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389332541 rs1380020016 |
642 | V>I | No |
ClinGen gnomAD |
|
|
CA7141008 rs778728294 |
643 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs778728294 CA257946113 |
643 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1303078735 CA389332528 |
644 | N>S | No |
ClinGen gnomAD |
|
|
CA7141007 rs770682665 |
644 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA389332493 rs1435203998 |
648 | M>I | No |
ClinGen gnomAD |
|
|
CA389332501 rs1175333843 |
648 | M>V | No |
ClinGen gnomAD |
|
|
CA7141005 rs535820939 |
651 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA257946104 rs939324441 |
652 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752259131 CA7141003 |
654 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA257946101 rs45586635 |
654 | R>S | No |
ClinGen 1000Genomes |
|
|
CA7141001 rs780530976 |
660 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7141000 rs755535179 |
661 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7140999 rs150757705 |
662 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257946096 rs905185522 |
662 | L>P | No |
ClinGen gnomAD |
|
|
CA7140998 rs766914333 |
663 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868560423 CA257946092 |
663 | H>Y | No |
ClinGen Ensembl |
|
|
CA7140997 rs763393035 |
664 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1353198858 CA389332382 |
666 | M>V | No |
ClinGen gnomAD |
|
|
rs1314441475 CA389332361 |
669 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761899671 CA7140994 |
673 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257946084 rs930705882 |
676 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA257946082 rs747326327 |
677 | R>K | No |
ClinGen TOPMed |
|
|
CA257946080 rs920698147 |
678 | L>S | No |
ClinGen Ensembl |
|
|
VAR_042328 CA257946078 rs34588699 |
679 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs371711941 CA7140991 |
682 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1042493523 CA257946072 |
683 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7140989 rs770772494 |
684 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7140988 rs200676869 |
688 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316838236 CA389332197 |
691 | L>F | No |
ClinGen TOPMed |
|
|
COSM2154772 CA257945962 rs758594741 COSM2154773 |
692 | V>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756900091 CA257945960 |
693 | A>D | No |
ClinGen Ensembl |
|
|
CA7140975 rs141649026 |
695 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757547062 CA7140976 |
695 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192400298 CA389332159 |
698 | H>N | No |
ClinGen gnomAD |
|
|
CA7140974 rs764301676 |
701 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220506775 CA389332127 |
702 | I>V | No |
ClinGen TOPMed |
|
|
CA389332121 COSM297451 rs1274583081 COSM297452 |
703 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs775492039 CA7140972 |
704 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1306611085 CA389332078 |
709 | P>S | No |
ClinGen gnomAD |
|
|
rs1187042305 CA389332072 |
710 | E>K | No |
ClinGen TOPMed |
|
|
rs1270562641 CA389332062 |
711 | N>Y | No |
ClinGen gnomAD |
|
|
CA389332034 rs1477567718 |
715 | A>G | No |
ClinGen TOPMed |
|
|
CA389332037 rs1424422172 |
715 | A>T | No |
ClinGen TOPMed |
|
|
CA7140970 rs762840161 |
717 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766310443 CA7140971 |
717 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773084000 CA7140969 |
721 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1418014039 CA389331970 |
723 | V>G | No |
ClinGen gnomAD |
|
|
rs1178542426 CA389331930 |
729 | G>S | No |
ClinGen gnomAD |
|
|
CA7140941 rs749621467 |
732 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1222057 rs771413120 CA7140942 COSM1222056 |
732 | R>W | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA257957080 rs2230505 |
734 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1486571102 CA389331897 |
734 | I>T | No |
ClinGen gnomAD |
|
|
CA389331894 rs1238310800 |
735 | G>R | No |
ClinGen gnomAD |
|
|
CA257957072 rs1047527023 |
741 | R>G | No |
ClinGen Ensembl |
|
|
CA7140936 rs755013574 |
743 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM48700 rs1225664385 CA389331841 |
743 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA389331814 rs1303923680 |
748 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1394155854 CA389331799 |
750 | L>V | No |
ClinGen TOPMed |
|
|
CA389331770 rs1369153064 |
754 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389331771 rs1369153064 |
754 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1324185580 CA389331774 |
754 | V>I | No |
ClinGen TOPMed |
|
|
rs753595653 CA7140931 |
758 | K>N | No |
ClinGen ExAC |
|
|
CA389331746 rs1404371888 |
758 | K>T | No |
ClinGen TOPMed |
|
|
rs763957772 CA7140930 |
759 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389331733 rs1416715023 |
760 | Y>C | No |
ClinGen gnomAD |
|
|
rs775276901 CA7140928 |
761 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1256683097 CA389331726 |
761 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771765508 CA7140927 |
762 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1369461 rs758982696 CA7140926 COSM1369462 |
762 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758982696 CA389331719 |
762 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7140925 rs773846561 |
764 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1210707657 CA389331699 |
766 | M>V | No |
ClinGen gnomAD |
|
|
CA257957045 rs373631205 |
769 | V>L | No |
ClinGen ESP |
|
|
CA389331665 rs1330012417 |
771 | V>I | No |
ClinGen gnomAD |
|
|
rs771374119 CA7140924 |
773 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs958699132 CA257957039 |
776 | S>T | No |
ClinGen TOPMed |
|
|
rs201010570 CA389331611 |
779 | G>C | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
RCV000921578 CA7140921 rs201010570 |
779 | G>S | No |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
|
CA7140920 rs778162256 |
779 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7140919 rs770116429 |
780 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767231258 CA257957025 |
790 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389331526 rs1162341357 |
791 | D>H | No |
ClinGen gnomAD |
|
|
rs1162341357 CA389331527 |
791 | D>Y | No |
ClinGen gnomAD |
|
|
rs1264713149 CA389331492 |
795 | N>S | No |
ClinGen TOPMed |
|
|
CA389331438 rs1192561847 |
803 | N>D | No |
ClinGen TOPMed |
|
|
rs755157904 CA7140916 |
803 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1263767545 CA389331431 |
804 | P>S | No |
ClinGen gnomAD |
|
|
COSM3386510 rs751618424 CA7140915 COSM3386511 |
807 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs139355024 CA7140914 |
808 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139355024 CA7140913 RCV000513822 |
808 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA257957005 rs990174633 |
810 | H>N | No |
ClinGen Ensembl |
|
|
CA389331388 rs1163659663 |
810 | H>R | No |
ClinGen TOPMed |
|
|
CA7140912 rs753794120 |
811 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7140883 rs765860856 |
813 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA257952181 rs1029672970 |
816 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1239948 COSM1239949 CA7140882 rs371574935 |
818 | N>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA257952179 rs889475068 COSM344288 COSM344287 |
823 | K>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7140880 rs765759559 |
824 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA257952176 VAR_046988 rs11161065 |
825 | R>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA389331251 rs1040250272 |
828 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA257952175 rs1040250272 |
828 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7140879 rs369453063 COSM1222062 COSM1222063 |
828 | Y>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs536679317 CA7140878 |
829 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7140877 rs747255084 |
831 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747255084 CA7140876 |
831 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408600552 CA389331220 |
833 | T>A | No |
ClinGen TOPMed |
|
|
CA7140874 rs772119873 |
837 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1290348891 CA389331179 |
838 | W>* | No |
ClinGen gnomAD |
|
|
rs369158333 CA7140856 |
841 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7140857 rs369158333 |
841 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321362869 CA389331143 |
842 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs772445112 CA7140855 |
843 | Q>H | No |
ClinGen ExAC |
|
|
rs200689820 CA7140854 |
844 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389331121 rs1167272450 |
845 | W>* | No |
ClinGen gnomAD |
|
|
rs371312242 CA7140853 |
847 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389331096 rs1419328188 COSM1263099 COSM1263098 |
849 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs771109503 CA7140852 |
849 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA389331092 rs1594332308 |
850 | E>Q | No |
ClinGen Ensembl |
|
|
CA7140851 rs748151127 |
851 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7140850 rs781181976 |
851 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7140849 rs367573850 |
852 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248109477 CA389331079 |
852 | E>G | No |
ClinGen gnomAD |
|
|
CA7140847 rs370424130 |
853 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs569529923 CA7140846 |
855 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149150061 CA7140844 |
856 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368061812 CA7140843 |
857 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556530827 CA7140842 |
858 | R>C | No |
ClinGen ExAC TOPMed |
|
|
rs1594332234 CA612983433 |
858 | R>C | No |
ClinGen Ensembl |
|
|
COSM1369454 rs559828373 CA257951881 COSM1369453 |
858 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
CA257951880 rs145171860 |
859 | Y>C | No |
ClinGen ESP gnomAD |
|
|
CA389331015 rs1306586778 |
862 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA389331014 rs1306586778 |
862 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1396995767 CA389330977 |
867 | L>V | No |
ClinGen TOPMed |
|
|
CA389330971 rs1317553957 |
868 | R>K | No |
ClinGen Ensembl |
|
|
CA7140839 rs753135852 |
874 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7140837 rs541601115 COSM955153 COSM955154 |
875 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA389330915 rs1479389213 |
876 | Q>* | No |
ClinGen gnomAD |
|
|
CA7140836 rs774699925 |
876 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1042825 CA257951877 |
877 | G>R | No |
ClinGen Ensembl |
|
|
rs763088813 CA7140834 |
879 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs759147432 CA257951875 |
879 | Q>H | No |
ClinGen Ensembl |
|
|
CA257951874 rs922428120 |
880 | Y>* | No |
ClinGen TOPMed |
|
|
CA704786329 rs1257429102 |
880 | Y>* | No |
ClinGen TOPMed |
|
|
rs1594332103 CA389330887 |
880 | Y>S | No |
ClinGen Ensembl |
|
|
CA389330880 rs1181118001 |
881 | P>L | No |
ClinGen TOPMed |
|
|
rs1594332072 CA389330879 |
882 | T>P | No |
ClinGen Ensembl |
|
|
rs1594332049 CA389330870 |
883 | H>P | No |
ClinGen Ensembl |
|
|
CA389330871 rs1303561715 |
883 | H>Y | No |
ClinGen gnomAD |
|
|
rs1219985846 CA389330857 |
885 | I>N | No |
ClinGen gnomAD |
|
|
CA389330859 rs1473563418 |
885 | I>V | No |
ClinGen TOPMed |
|
|
CA7140831 rs45585836 RCV000965935 |
886 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA389330841 rs1286772026 |
887 | P>L | No |
ClinGen gnomAD |
|
|
rs1412082706 CA389330837 |
888 | S>N | No |
ClinGen gnomAD |
|
|
CA7140830 rs779877270 |
889 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7140829 rs771843601 |
890 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7140828 VAR_042329 rs45582934 |
891 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7140826 rs756846244 |
892 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389330799 rs1312726113 |
893 | D>E | No |
ClinGen TOPMed |
|
|
CA389330806 rs1418111788 |
893 | D>N | No |
ClinGen gnomAD |
|
|
CA389330793 rs1409323630 |
894 | T>I | No |
ClinGen gnomAD |
|
|
CA389330790 rs1183967758 |
895 | P>S | No |
ClinGen gnomAD |
|
|
rs749139622 CA257951871 |
896 | E>A | No |
ClinGen Ensembl |
|
|
rs1472791354 CA389330771 |
898 | E>K | No |
ClinGen gnomAD |
|
|
rs919226014 CA257951870 |
901 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389330745 rs1256585754 |
901 | E>D | No |
ClinGen gnomAD |
|
|
rs753411631 CA7140825 |
902 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7140824 rs777107420 |
902 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA257951855 rs371931250 |
906 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777521591 CA7140822 |
906 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7140820 rs371931250 |
906 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777521591 CA389330717 |
906 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777521591 CA7140821 |
906 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7140818 rs751902337 |
907 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs763048984 CA7140816 |
908 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs150599710 CA7140815 RCV000936479 |
908 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA389330706 rs150599710 |
908 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7140814 rs765211955 |
910 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA389330696 rs1452411516 |
910 | S>N | No |
ClinGen gnomAD |
|
|
CA389330682 rs1385886918 |
912 | L>F | No |
ClinGen gnomAD |
|
|
CA389330672 rs1566461205 |
913 | L>C | No |
ClinGen Ensembl |
|
|
rs775404116 CA7140812 |
913 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q15139
[MIM: 617364]: Congenital heart defects and ectodermal dysplasia (CHDED)
An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation. {ECO:0000269|PubMed:27479907}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation. {ECO:0000269|PubMed:27479907}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for Q15139
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pleckstrin homology domain | 422 - 543 | IPR001849 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 140 - 197 | IPR002219-1 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 270 - 320 | IPR002219-2 |
| active_site | Serine/threonine-protein kinase, active site | 702 - 714 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 589 - 612 | IPR017441 |
| domain | Diacylglycerol/phorbol-ester binding | 268 - 282 | IPR020454-1 |
| domain | Diacylglycerol/phorbol-ester binding | 284 - 293 | IPR020454-2 |
| domain | Diacylglycerol/phorbol-ester binding | 297 - 308 | IPR020454-3 |
| domain | Diacylglycerol/phorbol-ester binding | 309 - 321 | IPR020454-4 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.13 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR22968 | PROTEIN KINASE C, MU |
| PANTHER Subfamily | PTHR22968:SF9 | SERINE_THREONINE-PROTEIN KINASE D1 |
| PANTHER Protein Class | non-receptor serine/threonine protein kinase | |
| PANTHER Pathway Category |
VEGF signaling pathway PKC CCKR signaling map PRKD1 Angiogenesis PKC EGF receptor signaling pathway PKC |
|
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome membrane | The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered. |
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calcium-dependent protein kinase C activity | Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. |
| identical protein binding | Binding to an identical protein or proteins. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| metal ion binding | Binding to a metal ion. |
| protein kinase C activity | Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires diacylglycerol. |
| 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. |
47 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to amino acid starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids. |
| cellular response to hydroperoxide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroperoxide stimulus. Hydroperoxides are monosubstitution products of hydrogen peroxide, HOOH. |
| cellular response to oxidative stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| cellular response to vascular endothelial growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vascular endothelial growth factor stimulus. |
| defense response to Gram-negative bacterium | Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism. |
| Golgi organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. |
| Golgi vesicle transport | The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| 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. |
| negative regulation of cell death | Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. |
| negative regulation of endocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of blood vessel endothelial cell migration | Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels. |
| positive regulation of CREB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor CREB. |
| positive regulation of endothelial cell chemotaxis | Any process that activates or increases the frequency, rate or extent of endothelial cell chemotaxis. |
| positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by the binding of a vascular endothelial growth factor (VEGF) to its receptor on the surface of a cell, which activates or increases the frequency, rate or extent of endothelial cell chemotaxis. |
| positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| positive regulation of endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
| positive regulation of histone deacetylase activity | Any process that activates or increases the frequency, rate or extent of histone deacetylase activity. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| positive regulation of phosphatidylinositol 3-kinase activity | Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| 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 kinase D signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase D, which occurs as a result of a single trigger reaction or compound. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
| regulation of integrin-mediated signaling pathway | Any process that modulates the frequency, rate or extent of integrin-mediated signaling pathway. |
| regulation of keratinocyte proliferation | Any process that modulates the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| regulation of release of sequestered calcium ion into cytosol | Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| sphingolipid biosynthetic process | The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
| vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BZL6 | PRKD2 | Serine/threonine-protein kinase D2 | Homo sapiens (Human) | SS |
| O94806 | PRKD3 | Serine/threonine-protein kinase D3 | Homo sapiens (Human) | SS |
| Q8K1Y2 | Prkd3 | Serine/threonine-protein kinase D3 | Mus musculus (Mouse) | SS |
| Q8BZ03 | Prkd2 | Serine/threonine-protein kinase D2 | Mus musculus (Mouse) | SS |
| Q62101 | Prkd1 | Serine/threonine-protein kinase D1 | Mus musculus (Mouse) | SS |
| Q5XIS9 | Prkd2 | Serine/threonine-protein kinase D2 | Rattus norvegicus (Rat) | SS |
| Q9WTQ1 | Prkd1 | Serine/threonine-protein kinase D1 | Rattus norvegicus (Rat) | SS |
| O45818 | dkf-2 | Serine/threonine-protein kinase dkf-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAPPVLRPP | SPLLPVAAAA | AAAAAALVPG | SGPGPAPFLA | PVAAPVGGIS | FHLQIGLSRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVLLLQDSSG | DYSLAHVREM | ACSIVDQKFP | ECGFYGMYDK | ILLFRHDPTS | ENILQLVKAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SDIQEGDLIE | VVLSASATFE | DFQIRPHALF | VHSYRAPAFC | DHCGEMLWGL | VRQGLKCEGC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLNYHKRCAF | KIPNNCSGVR | RRRLSNVSLT | GVSTIRTSSA | ELSTSAPDEP | LLQKSPSESF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGREKRSNSQ | SYIGRPIHLD | KILMSKVKVP | HTFVIHSYTR | PTVCQYCKKL | LKGLFRQGLQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CKDCRFNCHK | RCAPKVPNNC | LGEVTINGDL | LSPGAESDVV | MEEGSDDNDS | ERNSGLMDDM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EEAMVQDAEM | AMAECQNDSG | EMQDPDPDHE | DANRTISPST | SNNIPLMRVV | QSVKHTKRKS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| STVMKEGWMV | HYTSKDTLRK | RHYWRLDSKC | ITLFQNDTGS | RYYKEIPLSE | ILSLEPVKTS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALIPNGANPH | CFEITTANVV | YYVGENVVNP | SSPSPNNSVL | TSGVGADVAR | MWEIAIQHAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MPVIPKGSSV | GTGTNLHRDI | SVSISVSNCQ | IQENVDISTV | YQIFPDEVLG | SGQFGIVYGG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KHRKTGRDVA | IKIIDKLRFP | TKQESQLRNE | VAILQNLHHP | GVVNLECMFE | TPERVFVVME |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLHGDMLEMI | LSSEKGRLPE | HITKFLITQI | LVALRHLHFK | NIVHCDLKPE | NVLLASADPF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PQVKLCDFGF | ARIIGEKSFR | RSVVGTPAYL | APEVLRNKGY | NRSLDMWSVG | VIIYVSLSGT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FPFNEDEDIH | DQIQNAAFMY | PPNPWKEISH | EAIDLINNLL | QVKMRKRYSV | DKTLSHPWLQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DYQTWLDLRE | LECKIGERYI | THESDDLRWE | KYAGEQGLQY | PTHLINPSAS | HSDTPETEET |
| 910 | |||||
| EMKALGERVS | IL |