P0CW18
PR
Gene name |
PRSS56 |
Protein name |
Serine protease 56 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:646960 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P0CW18
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0CW18-F1 | Predicted | AlphaFoldDB |
537 variants for P0CW18
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2167671 RCV000836689 rs1550094 RCV001515390 |
30 | A>T | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1691258244 RCV001199357 |
32 | Q>missing | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758558652 CA2167682 RCV000648348 |
49 | A>T | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs115590586 RCV002060765 CA2167694 |
71 | G>R | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs387907096 CA129653 RCV000024076 VAR_065076 |
176 | R>G | Isolated microphthalmia 6 MCOP6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA186008 RCV000162041 VAR_069226 CA350987620 rs730882160 |
237 | G>R | Isolated microphthalmia 6 MCOP6 [ClinVar, UniProt] | Yes |
ClinGen gnomAD ClinVar UniProt dbSNP |
|
rs730882159 RCV000162040 |
279 | V>missing | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001723731 rs74703359 RCV000162039 VAR_069227 CA186006 |
302 | V>F | Isolated microphthalmia 6 MCOP6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_065077 RCV000024075 rs387907095 CA129652 |
309 | W>S | Isolated microphthalmia 6 MCOP6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA186005 rs730882158 VAR_069228 RCV000162038 |
320 | G>R | Isolated microphthalmia 6 MCOP6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001008778 RCV001195301 RCV000024073 rs730882064 |
356 | Q>missing | Nanophthalmia Isolated microphthalmia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000162042 VAR_069229 CA186009 rs730882161 |
395 | C>R | Isolated microphthalmia 6 MCOP6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001255867 rs1418002054 |
401 | A>E | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350994167 rs1276800919 RCV001205509 |
466 | P>T | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA236128 RCV002515237 RCV000171337 rs554826646 |
467 | R>L | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA66949487 rs948668266 RCV002529026 RCV000576292 |
483 | L>F | Inborn genetic diseases Isolated microphthalmia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2167806 rs730882162 RCV000162043 CA186010 |
519 | G>R | Isolated microphthalmia 6 [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
CA129651 RCV001516613 VAR_069230 rs61744404 RCV000024074 RCV001610296 RCV000454640 |
599 | P>A | Lethal multiple pterygium syndrome Isolated microphthalmia 6 MCOP6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 4 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 4 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365793993 CA350981236 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs2697778 CA2167665 |
5 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs2697777 CA66947342 |
7 | L>M | No |
ClinGen gnomAD |
|
|
rs1574621184 CA350981267 |
8 | L>P | No |
ClinGen Ensembl |
|
|
CA350981303 rs1274838526 |
10 | P>L | No |
ClinGen gnomAD |
|
|
rs1574621189 CA350981295 |
10 | P>T | No |
ClinGen Ensembl |
|
|
rs562504521 CA2167669 |
11 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562504521 CA350981307 |
11 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA66947381 rs1053633925 |
15 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1422344251 CA350981450 |
19 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350981514 rs1422291569 |
21 | P>R | No |
ClinGen gnomAD |
|
|
rs1410839553 CA350981558 |
23 | Y>F | No |
ClinGen gnomAD |
|
|
CA350981580 rs1348336590 |
25 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350981586 rs1407038105 |
25 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350981582 rs1407038105 |
25 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350981607 rs1340012328 |
27 | P>T | No |
ClinGen gnomAD |
|
|
CA350981630 rs1171927068 |
28 | P>L | No |
ClinGen TOPMed |
|
|
CA350981646 rs1216888325 |
29 | S>N | No |
ClinGen gnomAD |
|
|
CA350981683 rs1442613066 |
30 | A>G | No |
ClinGen TOPMed |
|
|
CA350981669 rs1550094 |
30 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1550094 CA350981673 |
30 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350982802 rs1413831864 |
34 | L>P | No |
ClinGen gnomAD |
|
|
CA350982833 rs1047088023 |
35 | S>L | No |
ClinGen gnomAD |
|
|
CA66947711 rs1047088023 |
35 | S>W | No |
ClinGen gnomAD |
|
|
CA350982834 rs1453051850 |
36 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308320534 CA350982858 |
37 | Q>L | No |
ClinGen gnomAD |
|
|
rs1406847558 CA350982917 |
40 | Q>R | No |
ClinGen TOPMed |
|
|
CA66947716 rs927913918 |
41 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350982975 rs1343597530 |
43 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991487860 CA66947724 |
44 | A>V | No |
ClinGen TOPMed |
|
|
rs763972788 CA66947726 |
45 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350983109 rs1301494090 |
48 | S>G | No |
ClinGen TOPMed |
|
|
CA350983125 rs751017393 |
48 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2167683 rs778020168 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328138224 CA350983218 |
51 | W>* | No |
ClinGen gnomAD |
|
|
CA2167684 rs549603274 |
51 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs931352952 CA350983350 |
55 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1048477049 CA66947755 |
55 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1408177702 CA350983375 |
56 | V>A | No |
ClinGen gnomAD |
|
|
rs899970313 CA66947765 |
57 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350983501 rs1329033208 |
61 | Q>* | No |
ClinGen gnomAD |
|
|
CA66947771 rs1028701908 |
64 | S>L | No |
ClinGen TOPMed |
|
|
CA2167685 rs757463594 |
65 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs745845707 CA66947773 |
66 | E>K | No |
ClinGen gnomAD |
|
|
CA350983710 rs1574621778 |
68 | R>* | No |
ClinGen Ensembl |
|
|
rs566370665 CA66947774 |
68 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA350983954 rs1431511260 |
69 | G>A | No |
ClinGen TOPMed |
|
|
CA350983718 rs1257809019 |
69 | G>R | No |
ClinGen gnomAD |
|
|
rs1170845272 CA350984009 |
72 | R>C | No |
ClinGen gnomAD |
|
|
rs761431902 CA2167695 |
72 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350984198 rs1165025133 |
77 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350984273 rs1418522553 |
80 | Q>* | No |
ClinGen gnomAD |
|
|
CA350984278 rs1286636937 |
80 | Q>R | No |
ClinGen gnomAD |
|
|
rs769165842 CA66947983 |
81 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA350984345 rs1296719017 |
84 | E>K | No |
ClinGen gnomAD |
|
|
CA350984563 rs1574622172 |
86 | G>E | No |
ClinGen Ensembl |
|
|
rs1382414266 CA350984448 |
86 | G>R | No |
ClinGen gnomAD |
|
|
rs547205012 CA2167702 |
87 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66948064 rs904662190 |
87 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1315506525 CA350984638 |
88 | C>W | No |
ClinGen TOPMed |
|
|
rs934832988 CA66948066 |
90 | E>K | No |
ClinGen Ensembl |
|
|
rs1052143162 CA66948068 |
92 | R>H | No |
ClinGen Ensembl |
|
|
rs1052143162 CA350984736 |
92 | R>L | No |
ClinGen Ensembl |
|
|
rs1013241242 CA66948074 |
93 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2167703 rs764921189 |
93 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66948080 rs367893009 |
94 | S>G | No |
ClinGen Ensembl |
|
|
rs1243573464 CA350984789 |
94 | S>R | No |
ClinGen gnomAD |
|
|
rs1172770574 CA350984794 |
95 | T>P | No |
ClinGen gnomAD |
|
|
rs1438677640 CA350984816 |
96 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA350984810 rs1297472767 |
96 | A>T | No |
ClinGen TOPMed |
|
|
CA350984827 rs1175056618 |
97 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1025103437 CA66948083 |
98 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA350984898 rs1429170675 |
100 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350984867 rs1174770998 |
100 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1249117791 CA350984938 |
101 | A>G | No |
ClinGen TOPMed |
|
|
CA350984951 rs1339101985 |
102 | H>Y | No |
ClinGen gnomAD |
|
|
CA350985021 rs1308758299 |
104 | R>G | No |
ClinGen gnomAD |
|
|
CA350985032 rs1407376653 |
104 | R>L | No |
ClinGen gnomAD |
|
|
rs1296599539 CA350985057 |
105 | I>S | No |
ClinGen gnomAD |
|
|
rs1574622265 CA350985077 |
106 | V>G | No |
ClinGen Ensembl |
|
|
rs757549931 CA350985099 |
107 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757549931 CA2167705 |
107 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66948105 rs757549931 |
107 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350985131 rs1391877540 |
108 | G>D | No |
ClinGen TOPMed |
|
|
CA66948121 rs982582563 |
108 | G>R | No |
ClinGen gnomAD |
|
|
CA350985188 rs1436939574 |
110 | A>E | No |
ClinGen gnomAD |
|
|
CA350985173 rs1263692375 |
110 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs939077513 CA66948133 |
112 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA66948139 rs976760883 |
113 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1164445825 CA350985264 |
113 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 113 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479736100 CA350985296 |
114 | G>E | No |
ClinGen gnomAD |
|
|
CA66948142 rs894954030 |
114 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350985381 rs1430615320 |
118 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66948153 rs569638368 |
120 | V>A | No |
ClinGen 1000Genomes |
|
|
rs750472959 CA2167707 CA350985422 |
120 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA350985448 rs1194131965 |
121 | R>W | No |
ClinGen gnomAD |
|
|
CA350985460 rs1443260938 |
122 | L>M | No |
ClinGen gnomAD |
|
|
rs1302625980 CA350985480 |
123 | Q>K | No |
ClinGen gnomAD |
|
|
rs1343652055 CA350985511 |
124 | L>F | No |
ClinGen gnomAD |
|
|
rs1283798686 CA350985557 |
126 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs954083406 CA66948159 |
127 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 127 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350985638 rs1269243606 |
131 | G>D | No |
ClinGen TOPMed |
|
|
CA350985636 rs1212564075 |
131 | G>S | No |
ClinGen gnomAD |
|
|
rs978984323 CA66948161 |
133 | V>I | No |
ClinGen gnomAD |
|
|
rs756602846 CA2167708 |
136 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs926193653 CA66948166 |
137 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350985702 rs1475405076 |
142 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA66948167 rs887698128 |
142 | T>P | No |
ClinGen TOPMed |
|
|
rs1281240501 CA350985705 |
143 | A>T | No |
ClinGen TOPMed |
|
|
rs961677756 CA66948170 |
146 | C>R | No |
ClinGen TOPMed |
|
|
CA350985746 rs1304030855 |
149 | G>C | No |
ClinGen TOPMed |
|
|
CA350985766 rs1446778228 |
150 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760133866 CA66948399 |
150 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1033036363 CA66948403 |
151 | P>S | No |
ClinGen TOPMed |
|
|
rs1320130374 CA350985788 |
153 | E>D | No |
ClinGen gnomAD |
|
|
CA2167715 rs573460708 |
154 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA66948423 rs545644192 |
154 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs933276658 CA66948426 |
156 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350985814 rs1278436508 |
158 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA66948440 rs1051013273 |
161 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350985847 rs1468139906 |
163 | G>E | No |
ClinGen TOPMed |
|
|
CA66948443 rs764043173 |
163 | G>R | No |
ClinGen gnomAD |
|
|
CA350985853 rs1465782214 |
164 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1203398654 CA350985856 |
165 | R>Q | No |
ClinGen gnomAD |
|
|
rs1188436989 CA350985891 |
170 | E>G | No |
ClinGen gnomAD |
|
|
CA350985905 rs1160394872 |
172 | V>L | No |
ClinGen gnomAD |
|
|
CA350985903 rs1160394872 |
172 | V>M | No |
ClinGen gnomAD |
|
|
CA2167718 rs776684546 |
173 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776684546 CA350985910 |
173 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867351008 CA66948453 |
174 | V>M | No |
ClinGen Ensembl |
|
|
CA350985923 rs1469267804 |
175 | N>S | No |
ClinGen gnomAD |
|
|
CA350985928 rs387907096 |
176 | R>C | No |
ClinGen TOPMed |
|
|
rs1334443135 CA350985966 |
179 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1334443135 CA350985961 |
179 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 180 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350985992 rs1408106250 |
180 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 180 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2167719 rs759381572 |
182 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2167720 rs765192382 |
182 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA350986028 CA350986031 rs1333638952 |
182 | K>N | No |
ClinGen gnomAD |
|
|
CA350986017 rs759381572 |
182 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66948511 rs889854270 |
184 | D>N | No |
ClinGen Ensembl |
|
|
rs1234397498 CA350986190 |
185 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1251147670 CA350986219 |
185 | P>L | No |
ClinGen gnomAD |
|
|
CA350986201 rs1251147670 |
185 | P>Q | No |
ClinGen gnomAD |
|
|
CA350986205 rs1251147670 |
185 | P>R | No |
ClinGen gnomAD |
|
|
CA350986185 rs1234397498 |
185 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1197840117 CA350986222 |
186 | R>W | No |
ClinGen gnomAD |
|
|
rs1490188993 CA350986294 |
188 | F>C | No |
ClinGen gnomAD |
|
|
CA66948513 rs1023267234 |
189 | H>R | No |
ClinGen TOPMed |
|
|
rs1197385614 CA350986308 |
189 | H>Y | No |
ClinGen gnomAD |
|
|
rs1270925813 CA350986367 |
190 | N>S | No |
ClinGen gnomAD |
|
|
CA350986469 rs1433739377 |
193 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350986539 rs1182937183 |
196 | Q>H | No |
ClinGen TOPMed |
|
|
CA350986617 rs1483975826 |
199 | T>A | No |
ClinGen TOPMed |
|
|
CA350986724 rs551203409 |
203 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA66948521 rs551203409 |
203 | P>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs758066268 CA350986746 |
204 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2167731 rs758066268 |
204 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358447648 CA350986730 CA350986731 |
204 | G>R | No |
ClinGen TOPMed |
|
|
CA350986752 rs758066268 |
204 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304484376 CA350986756 |
205 | G>* | No |
ClinGen gnomAD |
|
|
CA350986778 rs1370323285 |
205 | G>E | No |
ClinGen gnomAD |
|
|
rs1304484376 CA350986763 |
205 | G>R | No |
ClinGen gnomAD |
|
|
CA66948530 rs891778933 |
206 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350986802 rs1295292170 |
207 | A>V | No |
ClinGen gnomAD |
|
|
CA350986861 rs1296547872 |
209 | P>S | No |
ClinGen TOPMed |
|
|
CA350986884 rs1409226116 |
210 | V>L | No |
ClinGen TOPMed |
|
|
rs1231087426 CA350986906 |
211 | C>R | No |
ClinGen gnomAD |
|
|
CA350986918 rs1361878483 |
211 | C>S | No |
ClinGen gnomAD |
|
|
rs1423196165 CA350986990 |
213 | P>L | No |
ClinGen TOPMed |
|
|
rs1220306609 CA350987046 |
215 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs972302845 CA66948538 |
216 | P>L | No |
ClinGen TOPMed |
|
|
rs1426109547 CA350987201 |
218 | E>D | No |
ClinGen TOPMed |
|
|
rs923161410 CA66948541 |
219 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs923161410 CA350987206 |
219 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs971708025 CA66948549 |
220 | P>L | No |
ClinGen TOPMed |
|
| rs1228117846 | 221 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350987336 rs1488056321 |
224 | A>V | No |
ClinGen TOPMed |
|
|
CA350987366 rs1442440015 |
226 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350987396 rs1164932189 |
227 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs933201423 CA66948556 |
228 | A>S | No |
ClinGen TOPMed |
|
|
CA350987485 rs1227940151 |
231 | G>D | No |
ClinGen TOPMed |
|
|
rs1350024375 CA350987491 |
232 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA350987492 rs1350024375 |
232 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1318740531 CA350987510 |
233 | L>F | No |
ClinGen gnomAD |
|
|
rs1403306152 CA350987528 |
235 | E>Q | No |
ClinGen TOPMed |
|
|
CA350987617 CA66948647 rs182939131 |
236 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA350987671 rs1297352636 |
239 | E>K | No |
ClinGen TOPMed |
|
|
CA350987694 rs1390869883 |
240 | A>T | No |
ClinGen gnomAD |
|
|
rs1436197524 CA350987787 |
243 | V>A | No |
ClinGen TOPMed |
|
|
CA350987798 rs1331129928 |
244 | R>T | No |
ClinGen gnomAD |
|
|
CA66948654 rs1034582810 |
245 | E>K | No |
ClinGen Ensembl |
|
|
rs1262450983 CA350987841 |
246 | A>T | No |
ClinGen gnomAD |
|
|
rs1188160218 CA350987859 |
246 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350987875 rs545607218 |
247 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2167738 rs545607218 |
247 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350987881 rs1212018117 |
247 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2167737 rs545607218 |
247 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237650708 CA350987938 |
249 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs575712686 CA350988093 |
254 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2167739 rs575712686 |
254 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350988096 rs575712686 |
254 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350988141 rs1472639382 |
255 | T>I | No |
ClinGen gnomAD |
|
|
CA350988197 rs1160467865 |
257 | R>* | No |
ClinGen gnomAD |
|
|
rs763949589 CA2167740 |
257 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468520206 CA350988271 |
259 | A>V | No |
ClinGen gnomAD |
|
|
CA350988305 rs1178752889 |
261 | G>R | No |
ClinGen gnomAD |
|
|
rs773531912 CA2167741 |
262 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA350990089 rs1441842321 |
263 | G>W | No |
ClinGen gnomAD |
|
|
CA350990104 rs1352354577 |
264 | L>P | No |
ClinGen gnomAD |
|
|
CA350990098 rs761878699 |
264 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1410523946 CA350990107 |
265 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350990130 rs1282520637 |
266 | P>L | No |
ClinGen gnomAD |
|
|
CA350990180 rs1256989689 |
269 | M>T | No |
ClinGen TOPMed |
|
|
rs1405524119 CA350990171 |
269 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66948685 rs962090842 |
271 | C>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 271 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961191608 CA66948688 |
272 | A>T | No |
ClinGen TOPMed |
|
|
CA2167743 rs766546883 |
276 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350990290 rs766546883 |
276 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350990318 rs1279143559 |
278 | G>V | No |
ClinGen gnomAD |
|
|
rs561437909 CA66948700 |
279 | V>I | No |
ClinGen 1000Genomes |
|
|
rs1306543665 CA350990341 |
280 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350990360 rs1201931116 |
281 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758815927 CA2167748 |
285 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342494356 CA350990559 |
289 | P>T | No |
ClinGen gnomAD |
|
|
CA350990657 rs1160024916 |
291 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs144087001 CA350990683 |
292 | C>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA66948818 rs144087001 |
292 | C>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA350990794 rs1559289721 |
296 | G>R | No |
ClinGen Ensembl |
|
|
rs1224352180 CA350990845 |
298 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1224352180 CA350990844 |
298 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1450382210 CA350990831 |
298 | R>S | No |
ClinGen gnomAD |
|
|
rs1029846924 CA66948834 |
299 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1029846924 CA350990858 |
299 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1163008484 CA350991007 |
305 | G>R | No |
ClinGen gnomAD |
|
|
CA350991058 rs1411636925 |
307 | T>A | No |
ClinGen gnomAD |
|
|
rs1344570915 CA350991079 |
309 | W>* | No |
ClinGen gnomAD |
|
|
CA350991080 rs1344570915 |
309 | W>C | No |
ClinGen gnomAD |
|
|
rs1365457108 CA350991138 |
312 | G>D | No |
ClinGen gnomAD |
|
|
CA350991133 rs1210122467 |
312 | G>S | No |
ClinGen TOPMed |
|
|
rs1312468515 CA350991164 |
314 | G>R | No |
ClinGen gnomAD |
|
|
CA2167751 rs780768840 |
316 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1219417153 CA350991220 |
316 | P>L | No |
ClinGen TOPMed |
|
|
CA350991236 rs1559289791 |
317 | G>R | No |
ClinGen Ensembl |
|
|
CA66948872 rs985924095 |
321 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA350991293 rs985924095 |
321 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA350991296 rs985924095 |
321 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1175397165 CA350991344 |
324 | R>C | No |
ClinGen TOPMed |
|
|
CA66948877 rs913094227 |
324 | R>H | No |
ClinGen Ensembl |
|
|
CA66948884 rs866637365 |
326 | A>T | No |
ClinGen Ensembl |
|
|
CA350991421 rs1449238043 |
327 | V>A | No |
ClinGen TOPMed |
|
|
rs978703768 CA66948891 |
328 | F>V | No |
ClinGen TOPMed |
|
|
rs12617886 CA66948895 |
330 | D>A | No |
ClinGen Ensembl |
|
|
rs928717689 CA66948893 |
330 | D>N | No |
ClinGen Ensembl |
|
|
CA350991697 rs1366962087 |
337 | S>G | No |
ClinGen gnomAD |
|
|
rs1462608700 CA350991885 |
338 | A>V | No |
ClinGen TOPMed |
|
|
CA350991931 rs540536012 |
340 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540536012 CA2167765 |
340 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs937448077 CA66948993 |
343 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1403871544 CA350992012 |
344 | P>S | No |
ClinGen gnomAD |
|
|
CA350992024 rs1414736413 |
345 | S>N | No |
ClinGen gnomAD |
|
|
CA350992050 rs1327775582 |
346 | C>Y | No |
ClinGen gnomAD |
|
|
CA350992062 rs1574623784 |
347 | R>G | No |
ClinGen Ensembl |
|
|
rs1411152629 CA350992075 |
347 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA66949003 rs909186293 |
353 | D>E | No |
ClinGen Ensembl |
|
|
CA2167766 rs764526661 |
354 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350992226 rs1007273591 |
354 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350992232 rs1007273591 |
354 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA66949007 rs1007273591 |
354 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350992224 rs764526661 |
354 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558877093 CA66949024 |
355 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558877093 CA2167768 |
355 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558877093 CA2167767 |
355 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA66949030 rs780669831 |
356 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66949029 rs780669831 |
356 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | Q>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2167769 rs780669831 |
356 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs730882064 | 356 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536764601 CA2167770 |
357 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1031574869 CA66949032 |
357 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350992321 rs1252405723 |
358 | L>P | No |
ClinGen gnomAD |
|
|
rs749731353 CA66949039 |
360 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350992402 rs1196458923 |
362 | A>T | No |
ClinGen gnomAD |
|
|
CA350992434 rs1157774143 |
363 | A>V | No |
ClinGen TOPMed |
|
|
rs890861977 CA66949043 |
364 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs545056666 CA350992444 |
364 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545056666 CA2167771 |
364 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs890861977 CA350992441 |
364 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1018051153 CA66949050 |
366 | C>Y | No |
ClinGen gnomAD |
|
|
CA350992517 rs1431074074 |
367 | A>T | No |
ClinGen gnomAD |
|
|
rs949413404 CA66949053 |
371 | R>C | No |
ClinGen TOPMed |
|
|
rs1574623865 CA350992620 |
371 | R>L | No |
ClinGen Ensembl |
|
|
CA66949056 rs771523616 |
372 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs892766726 CA66949059 |
374 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 375 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208265235 CA350992734 |
376 | S>C | No |
ClinGen TOPMed |
|
|
rs1386773939 CA350992720 |
376 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350992786 rs1299827041 |
378 | G>V | No |
ClinGen gnomAD |
|
|
CA66949066 rs942200399 |
379 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350992827 rs1231302629 |
380 | C>* | No |
ClinGen TOPMed |
|
|
CA350992844 rs1340351408 |
381 | A>V | No |
ClinGen gnomAD |
|
|
rs574913658 CA66949076 |
384 | A>E | No |
ClinGen gnomAD |
|
|
CA350992989 rs1319580378 |
388 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1319580378 CA350992987 |
388 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1020192845 CA66949080 |
389 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 392 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350993057 rs1374405453 |
393 | R>L | No |
ClinGen gnomAD |
|
|
CA350993061 rs1374405453 |
393 | R>Q | No |
ClinGen gnomAD |
|
|
rs1435246306 CA350993053 |
393 | R>W | No |
ClinGen TOPMed |
|
|
rs1209156130 CA350993159 |
396 | E>D | No |
ClinGen gnomAD |
|
|
CA350993200 rs1183079329 |
399 | S>W | No |
ClinGen gnomAD |
|
|
CA350993233 rs1418002054 |
401 | A>V | No |
ClinGen gnomAD |
|
|
rs763466969 CA2167782 |
402 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs775484059 CA2167781 |
402 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA350993262 rs1196691019 |
403 | T>K | No |
ClinGen TOPMed |
|
|
CA66949180 rs943537126 |
405 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350993304 rs1464793266 |
406 | G>D | No |
ClinGen gnomAD |
|
|
CA350993318 rs1304813494 |
407 | L>P | No |
ClinGen gnomAD |
|
|
rs1039437230 CA66949183 |
408 | L>V | No |
ClinGen Ensembl |
|
|
CA350993334 rs1379914775 |
409 | R>Q | No |
ClinGen gnomAD |
|
|
rs771079151 CA66949201 |
409 | R>W | No |
ClinGen Ensembl |
|
|
CA66949204 rs892924294 |
410 | N>S | No |
ClinGen Ensembl |
|
|
CA350993359 rs1286338065 |
411 | A>T | No |
ClinGen gnomAD |
|
|
rs1228754110 CA350993392 |
413 | E>* | No |
ClinGen gnomAD |
|
|
CA350993399 rs1277722460 |
413 | E>V | No |
ClinGen gnomAD |
|
|
rs1256235784 CA350993434 |
416 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350993443 rs1482421828 |
416 | G>V | No |
ClinGen gnomAD |
|
|
CA350993436 rs1256235784 |
416 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1250225047 CA350993453 |
417 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1250225047 CA350993454 |
417 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1183347433 CA350993461 |
418 | R>H | No |
ClinGen gnomAD |
|
|
rs1424821648 CA350993463 |
419 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350993465 rs1431816684 |
419 | P>Q | No |
ClinGen gnomAD |
|
|
CA66949217 rs1041798789 |
420 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs762126168 CA2167785 |
420 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA66949236 rs2741300 |
421 | L>M | No |
ClinGen Ensembl |
|
|
rs566840716 CA350993475 |
421 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2167786 rs566840716 |
421 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1274184284 CA350993492 |
422 | R>Q | No |
ClinGen gnomAD |
|
|
rs1410425339 CA350993489 |
422 | R>W | No |
ClinGen gnomAD |
|
|
rs1220772983 CA350993517 |
423 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350993522 rs1220772983 |
423 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1190095971 CA350993505 |
423 | R>S | No |
ClinGen TOPMed |
|
|
rs1301507693 CA350993529 |
424 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs973589135 CA350993544 |
426 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350993547 rs1205766177 |
426 | P>H | No |
ClinGen gnomAD |
|
|
rs973589135 CA66949249 |
426 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1003172681 CA66949251 |
427 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1003172681 CA350993557 |
427 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1035587763 CA66949252 |
427 | A>V | No |
ClinGen gnomAD |
|
|
rs1193324440 CA350993600 |
430 | L>F | No |
ClinGen gnomAD |
|
|
CA350993619 rs1395894549 |
431 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350993628 rs1166788257 |
432 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs958494349 CA66949254 |
433 | P>S | No |
ClinGen gnomAD |
|
|
CA350993650 rs1279753998 |
434 | A>T | No |
ClinGen TOPMed |
|
|
CA66949256 rs929522384 |
435 | L>F | No |
ClinGen TOPMed |
|
|
rs1430496329 CA350993685 |
436 | R>G | No |
ClinGen gnomAD |
|
|
rs1322754108 CA350993693 |
436 | R>M | No |
ClinGen gnomAD |
|
|
rs1348097475 CA350993708 |
437 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs558993202 CA66949257 |
438 | S>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA350993768 rs1574624233 |
441 | H>P | No |
ClinGen Ensembl |
|
|
CA66949259 rs1012712721 |
441 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1225644543 CA350993777 |
442 | P>T | No |
ClinGen gnomAD |
|
|
CA350993796 rs1342191426 |
443 | A>D | No |
ClinGen gnomAD |
|
|
rs1167199472 CA350993793 |
443 | A>S | No |
ClinGen TOPMed |
|
|
rs1227274904 CA350993805 |
444 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA350993840 rs1320492760 |
447 | R>G | No |
ClinGen gnomAD |
|
|
rs1224220238 CA350993856 |
448 | L>I | No |
ClinGen gnomAD |
|
|
rs1254092820 CA350993881 |
449 | H>Q | No |
ClinGen gnomAD |
|
|
CA350993966 rs1385205340 |
453 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350994024 rs1413622765 |
457 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350994032 rs1331795780 |
457 | T>I | No |
ClinGen gnomAD |
|
|
CA350994022 rs1413622765 |
457 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs754983816 CA2167792 |
458 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66949308 rs988105705 |
458 | R>P | No |
ClinGen TOPMed |
|
|
rs988105705 CA66949307 |
458 | R>Q | No |
ClinGen TOPMed |
|
|
rs754983816 CA350994035 |
458 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2167793 rs778673553 |
460 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA350994069 rs778673553 |
460 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA350994107 rs1397479236 |
462 | R>P | No |
ClinGen TOPMed |
|
|
CA350994143 rs1187189047 |
464 | P>L | No |
ClinGen TOPMed |
|
|
rs1290675725 CA350994129 |
464 | P>T | No |
ClinGen gnomAD |
|
|
CA350994172 rs1444165409 |
466 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350994163 rs1276800919 |
466 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1002204599 CA66949333 |
470 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350994231 rs1292061728 |
471 | N>H | No |
ClinGen gnomAD |
|
|
CA350994242 rs1184074197 |
471 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1349758069 CA350994247 |
472 | G>S | No |
ClinGen TOPMed |
|
|
rs1454496389 CA350994344 |
474 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350994338 rs1454496389 |
474 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1167579256 CA350994350 |
475 | G>R | No |
ClinGen gnomAD |
|
|
CA66949470 rs894380888 |
479 | L>V | No |
ClinGen gnomAD |
|
|
CA350994419 rs1397887151 |
480 | R>* | No |
ClinGen gnomAD |
|
|
rs749326484 CA350994423 |
480 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749326484 CA2167799 |
480 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373460328 CA350994486 |
484 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350994491 rs1441833929 |
484 | A>V | No |
ClinGen gnomAD |
|
|
rs768752831 CA2167800 |
486 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1362383282 CA350994505 |
487 | Q>R | No |
ClinGen gnomAD |
|
|
CA66949493 rs552334838 |
488 | G>V | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 489 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350994546 rs1259778419 |
493 | I>F | No |
ClinGen TOPMed |
|
|
CA350994552 rs1355611493 |
494 | L>V | No |
ClinGen gnomAD |
|
|
rs1204562024 CA350994561 |
495 | Q>H | No |
ClinGen TOPMed |
|
|
CA66949500 rs898971107 |
495 | Q>K | No |
ClinGen Ensembl |
|
|
rs993348129 CA66949505 |
496 | V>F | No |
ClinGen TOPMed |
|
|
rs993348129 CA66949502 |
496 | V>I | No |
ClinGen TOPMed |
|
|
rs1026807382 CA350994576 |
498 | S>L | No |
ClinGen gnomAD |
|
|
rs1026807382 CA66949508 |
498 | S>W | No |
ClinGen gnomAD |
|
|
CA350994587 rs1209259487 |
500 | H>D | No |
ClinGen TOPMed |
|
|
CA350994594 rs1347567747 |
501 | L>M | No |
ClinGen TOPMed |
|
|
rs925616470 CA66949516 |
502 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1363565235 CA350994610 |
503 | M>I | No |
ClinGen TOPMed |
|
|
rs935676795 CA350994614 |
504 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA66949525 rs935676795 |
504 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA350994668 rs1356066403 |
510 | A>T | No |
ClinGen gnomAD |
|
|
rs778260370 CA66949742 |
511 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350994676 rs1286301333 |
511 | D>Y | No |
ClinGen gnomAD |
|
|
CA350994681 rs1194907734 |
512 | L>M | No |
ClinGen TOPMed |
|
|
rs1022960455 CA66949744 |
513 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA66949743 rs1018998176 |
513 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350994686 rs1018998176 |
513 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1255072527 CA350994706 |
516 | T>S | No |
ClinGen gnomAD |
|
|
rs1481965922 CA350994710 |
517 | L>M | No |
ClinGen gnomAD |
|
|
rs1212445878 CA350994719 |
518 | T>S | No |
ClinGen gnomAD |
|
|
rs1181902566 CA350994750 |
523 | A>S | No |
ClinGen gnomAD |
|
|
rs1270791862 CA350994766 |
525 | V>A | No |
ClinGen TOPMed |
|
|
rs967027379 CA66949745 |
525 | V>M | No |
ClinGen Ensembl |
|
|
CA66949748 rs900612557 |
526 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350994769 rs1160056048 |
526 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs900612557 CA350994768 |
526 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs978649515 CA66949757 CA350994788 |
529 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs996747702 CA66949751 |
529 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1361329945 CA350994785 |
529 | L>V | No |
ClinGen TOPMed |
|
|
CA2167808 rs753426476 |
530 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1375990385 CA350994797 |
531 | G>D | No |
ClinGen gnomAD |
|
|
rs1314911857 CA350994794 |
531 | G>S | No |
ClinGen gnomAD |
|
|
rs1035225841 CA66949764 |
532 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA66949761 rs560464510 |
532 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs764778946 CA2167810 |
533 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66949767 rs992514509 |
534 | V>M | No |
ClinGen TOPMed |
|
|
CA350994842 rs1574625728 |
538 | G>D | No |
ClinGen Ensembl |
|
|
rs915665449 CA66949773 |
538 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1280502003 CA350994846 |
539 | L>P | No |
ClinGen gnomAD |
|
|
rs1482451406 CA350994848 |
540 | V>M | No |
ClinGen gnomAD |
|
|
CA66949776 rs969663311 |
543 | E>K | No |
ClinGen Ensembl |
|
|
rs927010024 CA66949778 |
544 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350994911 rs1178189320 |
545 | A>D | No |
ClinGen gnomAD |
|
|
CA350994908 rs1481807717 |
545 | A>T | No |
ClinGen gnomAD |
|
|
rs1266926607 CA350994936 |
549 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1053440923 CA66949782 |
549 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1053440923 CA350994943 |
549 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1053440923 CA66949784 |
549 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1220533396 CA350994947 |
550 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 550 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350994969 rs1395704567 |
551 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA66949787 rs890461314 |
551 | L>P | No |
ClinGen Ensembl |
|
|
rs973130646 CA66949795 |
553 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA66949792 rs973130646 |
553 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350994988 rs1166596814 |
553 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs920489554 CA66949799 |
556 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs920489554 CA66949798 |
556 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2167812 rs758291049 |
558 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs929267732 CA66949810 |
561 | A>D | No |
ClinGen Ensembl |
|
|
rs1303725342 CA350995064 |
561 | A>S | No |
ClinGen gnomAD |
|
|
rs1340798593 CA350995087 |
563 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1225604337 CA350995090 |
563 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2167814 rs532343102 |
564 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs143475239 CA2167815 |
565 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1165165862 CA350995119 |
566 | A>S | No |
ClinGen TOPMed |
|
|
rs1467425747 CA350995133 |
567 | L>P | No |
ClinGen gnomAD |
|
|
rs1246424123 CA350995127 |
567 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 568 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350995136 rs1253900924 |
568 | A>T | No |
ClinGen gnomAD |
|
|
CA66949826 rs1039102791 |
573 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350995227 rs1480954100 |
575 | P>T | No |
ClinGen TOPMed |
|
|
rs1410526865 CA350995250 |
576 | W>C | No |
ClinGen gnomAD |
|
|
rs1239936195 CA350995255 |
577 | M>V | No |
ClinGen TOPMed |
|
|
rs1163995423 CA350995294 |
579 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1379624877 CA350995315 |
580 | G>R | No |
ClinGen gnomAD |
|
|
rs780295072 CA350995351 |
581 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs780295072 CA2167816 |
581 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA350995365 rs1462850345 |
582 | G>E | No |
ClinGen gnomAD |
|
|
CA66949833 rs531747558 CA66949832 |
584 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA66949834 rs1054994729 |
586 | E>K | No |
ClinGen TOPMed |
|
|
rs548263714 CA66949835 |
587 | R>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1432247520 CA350995422 |
588 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350995420 rs1432247520 |
588 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA66949838 rs893322816 |
589 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350995475 rs1215612623 |
592 | P>L | No |
ClinGen gnomAD |
|
|
CA66949845 rs755168857 |
594 | N>I | No |
ClinGen Ensembl |
|
|
CA350995503 rs1289817384 |
595 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1020535805 CA66949855 |
597 | V>A | No |
ClinGen TOPMed |
|
|
CA66949853 rs779289034 |
597 | V>I | No |
ClinGen gnomAD |
|
|
rs779289034 CA350995533 |
597 | V>L | No |
ClinGen gnomAD |
|
|
CA350995546 rs1464660940 |
598 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350995545 rs1464660940 |
598 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350995542 rs1274013333 |
598 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1274013333 CA350995539 |
598 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs61744404 CA66949856 |
599 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350995562 rs534125240 |
600 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA66949857 rs534125240 |
600 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
1 associated diseases with P0CW18
[MIM: 613517]: Microphthalmia, isolated, 6 (MCOP6)
A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone. {ECO:0000269|PubMed:21397065, ECO:0000269|PubMed:21532570, ECO:0000269|PubMed:21850159}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone. {ECO:0000269|PubMed:21397065, ECO:0000269|PubMed:21532570, ECO:0000269|PubMed:21850159}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for P0CW18
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| serine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| camera-type eye development | The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| positive regulation of leukocyte chemotaxis | Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P05049 | snk | Serine protease snake | Drosophila melanogaster (Fruit fly) | PR |
| Q6UWB4 | PRSS55 | Serine protease 55 | Homo sapiens (Human) | PR |
| P35030 | PRSS3 | Trypsin-3 | Homo sapiens (Human) | PR |
| Q9UI38 | PRSS50 | Probable threonine protease PRSS50 | Homo sapiens (Human) | PR |
| E5RG02 | PRSS46P | Putative serine protease 46 | Homo sapiens (Human) | PR |
| Q9BZD6 | PRRG4 | Transmembrane gamma-carboxyglutamic acid protein 4 | Homo sapiens (Human) | PR |
| P15119 | Mcpt2 | Mast cell protease 2 | Mus musculus (Mouse) | PR |
| Q9DBI0 | Tmprss6 | Transmembrane protease serine 6 | Mus musculus (Mouse) | PR |
| P98064 | Masp1 | Mannan-binding lectin serine protease 1 | Mus musculus (Mouse) | PR |
| Q402U7 | Prss44 | Serine protease 44 | Mus musculus (Mouse) | PR |
| Q8CHN8 | Masp1 | Mannan-binding lectin serine protease 1 | Rattus norvegicus (Rat) | PR |
| Q6IE63 | Prss46 | Serine protease 46 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLAVLLLLP | LPSSWFAHGH | PLYTRLPPSA | LQVLSAQGTQ | ALQAAQRSAQ | WAINRVAMEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QHRSHECRGS | GRPRPQALLQ | DPPEPGPCGE | RRPSTANVTR | AHGRIVGGSA | APPGAWPWLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLQLGGQPLC | GGVLVAASWV | LTAAHCFVGA | PNELLWTVTL | AEGSRGEQAE | EVPVNRILPH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PKFDPRTFHN | DLALVQLWTP | VSPGGSARPV | CLPQEPQEPP | AGTACAIAGW | GALFEDGPEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EAVREARVPL | LSTDTCRRAL | GPGLRPSTML | CAGYLAGGVD | SCQGDSGGPL | TCSEPGPRPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVLFGVTSWG | DGCGEPGKPG | VYTRVAVFKD | WLQEQMSASS | SREPSCRELL | AWDPPQELQA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DAARLCAFYA | RLCPGSQGAC | ARLAHQQCLQ | RRRRCELRSL | AHTLLGLLRN | AQELLGPRPG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LRRLAPALAL | PAPALRESPL | HPARELRLHS | GSRAAGTRFP | KRRPEPRGEA | NGCPGLEPLR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QKLAALQGAH | AWILQVPSEH | LAMNFHEVLA | DLGSKTLTGL | FRAWVRAGLG | GRHVAFSGLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GLEPATLARS | LPRLLVQALQ | AFRVAALAEG | EPEGPWMDVG | QGPGLERKGH | HPLNPQVPPA |
| RQP |