Q9Y5G4
PR
Gene name |
PCDHGA9 |
Protein name |
Protocadherin gamma-A9 |
Names |
PCDH-gamma-A9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56107 |
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 Q9Y5G4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5G4-F1 | Predicted | AlphaFoldDB |
802 variants for Q9Y5G4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA361459984 rs1276206622 |
2 | A>T | No |
ClinGen TOPMed |
|
|
rs778208009 CA3473860 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA361459990 rs1454199669 |
3 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361459995 rs1482027682 |
4 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3473861 rs749578447 |
5 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589470442 CA361460007 |
6 | K>Q | No |
ClinGen Ensembl |
|
|
CA361460016 rs1589470573 |
7 | C>S | No |
ClinGen Ensembl |
|
|
CA3473862 rs758148844 |
7 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3473864 rs746626227 |
9 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs375892904 CA3473866 |
10 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361460040 rs748129276 |
11 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748129276 CA3473867 |
11 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241706048 CA361460046 |
12 | R>K | No |
ClinGen gnomAD |
|
|
rs773089843 CA3473869 |
13 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769551114 CA3473868 |
13 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs762604393 CA3473870 |
14 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361460072 rs1189114508 |
17 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1266306917 CA361460082 |
18 | S>* | No |
ClinGen gnomAD |
|
|
rs774624797 CA3473872 |
19 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3473874 rs767598610 |
21 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs752656852 CA3473875 |
22 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs761279674 CA3473876 |
23 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA128453232 rs969785776 |
25 | E>D | No |
ClinGen TOPMed |
|
|
CA361460128 rs1396801327 |
26 | A>T | No |
ClinGen gnomAD |
|
|
CA3473877 rs764461706 |
27 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs370199830 CA361460144 |
28 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589474195 CA361460142 |
28 | A>S | No |
ClinGen Ensembl |
|
|
rs370199830 CA3473878 |
28 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361460146 rs1561685258 |
29 | S>G | No |
ClinGen Ensembl |
|
|
CA128453244 rs989723883 |
29 | S>R | No |
ClinGen Ensembl |
|
|
CA3473880 rs202099773 |
30 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779412498 CA3473881 |
31 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA128453258 rs914251787 |
31 | I>T | No |
ClinGen gnomAD |
|
|
CA3473882 rs368917303 |
33 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361460179 rs1336291522 |
34 | S>A | No |
ClinGen gnomAD |
|
|
rs754618954 CA3473883 |
34 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1264463559 CA361460188 |
36 | P>S | No |
ClinGen gnomAD |
|
|
CA3473884 rs780758422 |
37 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA361460213 rs1178674622 |
39 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361460220 rs1358287237 |
40 | E>G | No |
ClinGen Ensembl |
|
|
CA128453287 rs920382925 |
41 | K>E | No |
ClinGen TOPMed |
|
|
CA3473887 rs777613681 |
41 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473888 rs777613681 |
41 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770770660 CA3473889 |
43 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3473890 rs770770660 |
43 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs759762465 CA3473891 |
43 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA361460239 rs1355280968 |
44 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3473893 rs775664314 |
44 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473894 rs775664314 |
44 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361460240 rs1355280968 |
44 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs930384486 CA128453300 |
46 | G>D | No |
ClinGen TOPMed |
|
|
rs1561685667 CA361460251 |
46 | G>R | No |
ClinGen Ensembl |
|
|
CA3473895 rs764199669 |
47 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754367041 CA3473896 |
48 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA128453310 rs867959669 |
49 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361460275 rs1295654527 |
50 | K>E | No |
ClinGen gnomAD |
|
|
CA361460282 rs765706858 |
50 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA361460295 rs1226095779 |
51 | D>E | No |
ClinGen gnomAD |
|
|
CA361460299 rs1311418325 |
52 | L>M | No |
ClinGen gnomAD |
|
|
rs1272109802 CA361460319 |
53 | A>G | No |
ClinGen gnomAD |
|
|
rs754708762 CA3473900 |
53 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361460347 rs1313523426 |
55 | E>G | No |
ClinGen TOPMed |
|
|
rs780657795 CA3473902 |
56 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs550510039 CA3473903 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473904 rs755647554 |
58 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA361460409 rs1377543238 |
60 | A>E | No |
ClinGen TOPMed |
|
|
CA3473906 COSM1651433 rs749236674 |
65 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361460471 rs1400601984 |
65 | R>H | No |
ClinGen TOPMed |
|
|
CA361460476 rs1400601984 |
65 | R>L | No |
ClinGen TOPMed |
|
|
rs1420317278 CA361460489 |
66 | I>M | No |
ClinGen gnomAD |
|
|
rs933036383 CA128453366 |
67 | V>A | No |
ClinGen Ensembl |
|
|
CA3473907 rs770788893 |
67 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128453342 COSM1595071 rs770788893 |
67 | V>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1166937788 CA361460506 |
68 | S>A | No |
ClinGen gnomAD |
|
|
CA361460538 rs1435695987 |
70 | G>D | No |
ClinGen gnomAD |
|
|
CA361460544 rs1357883715 |
71 | R>G | No |
ClinGen gnomAD |
|
|
CA3473910 rs11575960 |
71 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128453429 rs907710099 COSM1744065 |
72 | T>A | biliary_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs775617849 CA3473911 |
72 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs542727163 CA3473912 |
73 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 74 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230059414 CA361460585 |
74 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361460623 rs1341077920 |
76 | S>F | No |
ClinGen gnomAD |
|
|
CA361460615 rs1294905670 |
76 | S>P | No |
ClinGen gnomAD |
|
|
CA361460634 rs1458009956 |
77 | L>R | No |
ClinGen TOPMed |
|
|
CA361460627 rs1182793881 |
77 | L>V | No |
ClinGen TOPMed |
|
|
rs763950254 CA361460661 |
79 | P>L | No |
ClinGen gnomAD |
|
|
CA128453446 rs763950254 |
79 | P>R | No |
ClinGen gnomAD |
|
|
CA3473913 rs768673759 |
80 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368387997 CA128453469 |
80 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368387997 CA3473914 |
80 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA361460674 rs1291009856 |
81 | S>G | No |
ClinGen Ensembl |
|
|
CA361460691 rs762413220 |
82 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs762413220 CA361460689 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs762413220 CA3473915 |
82 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3473916 rs765799006 |
83 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765799006 CA3473917 |
83 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1247618991 CA361460738 |
86 | T>I | No |
ClinGen gnomAD |
|
|
CA3473918 rs763459005 |
86 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1253134514 CA361460745 |
87 | A>T | No |
ClinGen gnomAD |
|
|
rs755734755 CA3473921 |
87 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs763517467 CA3473922 |
89 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899056141 CA128453487 |
90 | I>R | No |
ClinGen gnomAD |
|
|
rs1340190547 CA361460783 |
90 | I>V | No |
ClinGen gnomAD |
|
|
CA3473923 rs753308307 |
91 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414315950 CA361460795 |
91 | D>H | No |
ClinGen gnomAD |
|
|
rs1329726577 CA361460807 |
92 | R>W | No |
ClinGen TOPMed |
|
|
rs1561686946 CA361460827 |
93 | E>K | No |
ClinGen Ensembl |
|
|
rs757212212 CA3473925 |
95 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361460892 rs948095468 |
96 | C>* | No |
ClinGen gnomAD |
|
|
CA3473926 rs778873368 |
99 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276332038 CA361460965 |
100 | P>R | No |
ClinGen gnomAD |
|
|
CA361460959 rs1458962370 |
100 | P>S | No |
ClinGen TOPMed |
|
|
CA361461037 rs1162911439 |
104 | V>L | No |
ClinGen TOPMed |
|
|
CA361461036 rs1162911439 |
104 | V>M | No |
ClinGen TOPMed |
|
|
CA361461133 rs1254967384 |
109 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA128453499 rs778907412 |
114 | V>M | No |
ClinGen Ensembl |
|
|
rs1247528606 CA361461238 |
116 | L>Q | No |
ClinGen gnomAD |
|
|
CA361461254 rs1195717654 |
117 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 119 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245270186 CA361593771 |
119 | I>T | No |
ClinGen gnomAD |
|
|
rs747204399 CA3473930 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1268267002 CA361594617 |
121 | I>M | No |
ClinGen TOPMed |
|
|
CA361594614 rs1178188100 |
121 | I>T | No |
ClinGen gnomAD |
|
|
CA3473931 rs576274199 |
122 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361594634 rs1487573359 |
123 | V>E | No |
ClinGen TOPMed |
|
|
rs776881134 CA3473932 |
123 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156229289 CA361594645 |
124 | T>A | No |
ClinGen gnomAD |
|
|
rs748189923 CA3473933 |
124 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325114096 CA361594691 |
126 | I>T | No |
ClinGen gnomAD |
|
|
CA361594717 rs376895778 CA3473936 |
127 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361594779 rs1279947533 |
130 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361594788 rs1307550469 |
131 | P>L | No |
ClinGen TOPMed |
|
|
rs774711306 CA3473938 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1031512427 CA128453552 |
132 | K>N | No |
ClinGen TOPMed |
|
|
rs1335542003 CA361594829 |
134 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1031210052 CA128453557 |
136 | E>Q | No |
ClinGen Ensembl |
|
|
rs760277157 CA3473939 |
137 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs200979571 CA3473940 |
137 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753470303 CA3473941 |
139 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA128453569 rs752870915 |
140 | V>L | No |
ClinGen TOPMed |
|
|
CA361594917 rs1448394920 |
141 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 143 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473942 rs201959000 |
144 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128453576 rs964616167 |
144 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs764725441 CA3473943 |
146 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1376620471 CA361594981 |
146 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764725441 CA3473944 |
146 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1182066905 CA361594987 |
147 | V>L | No |
ClinGen gnomAD |
|
|
CA3473945 rs758295115 |
148 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1634030 rs1475233743 CA361595007 |
149 | G>* | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1475233743 CA361595008 |
149 | G>R | No |
ClinGen gnomAD |
|
|
CA3473946 rs370218984 |
150 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3473947 rs746777998 |
150 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755177334 CA3473948 |
151 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3473949 rs781611924 |
151 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755177334 CA361595024 |
151 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA361595069 rs1467852757 |
154 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3473951 rs770058522 |
155 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3473952 rs773369451 |
157 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473953 rs749764130 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3473954 rs771429615 |
158 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774605332 CA3473955 |
161 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1201328055 CA361595159 |
162 | V>I | No |
ClinGen TOPMed |
|
|
CA3473957 rs565143998 |
164 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361595204 rs1382965437 |
165 | N>K | No |
ClinGen gnomAD |
|
|
CA128453722 rs1027708651 |
166 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA361595228 rs1482278011 |
167 | L>P | No |
ClinGen gnomAD |
|
|
rs754178107 CA128453730 |
169 | S>I | No |
ClinGen Ensembl |
|
|
rs1268345736 CA361595284 |
171 | Q>H | No |
ClinGen TOPMed |
|
|
CA3473958 rs776335336 |
173 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128453733 rs951799371 |
173 | S>R | No |
ClinGen TOPMed |
|
|
rs1258805283 CA361595338 |
175 | N>S | No |
ClinGen gnomAD |
|
|
rs761438237 CA3473959 |
176 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764737675 CA3473960 |
177 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473962 rs762825635 |
181 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754840157 CA3473965 |
187 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473964 rs751429629 |
187 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1595063 rs1313886103 CA361595513 |
194 | L>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1307203985 CA361595517 |
194 | L>R | No |
ClinGen gnomAD |
|
|
rs1313886103 CA361595515 |
194 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361595557 rs1228327431 |
197 | E>D | No |
ClinGen gnomAD |
|
|
rs1332209242 CA361595546 |
197 | E>K | No |
ClinGen gnomAD |
|
|
CA3473968 rs561106024 |
197 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361595561 rs1300060255 |
198 | R>S | No |
ClinGen gnomAD |
|
|
CA361595578 rs940508173 |
199 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs940508173 CA128453773 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 201 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361595625 rs1281537625 |
203 | E>Q | No |
ClinGen gnomAD |
|
|
rs1206497487 CA361495990 |
206 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778030830 CA3473970 |
207 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749341214 CA3473971 |
207 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361496008 rs1441332710 |
208 | H>N | No |
ClinGen gnomAD |
|
|
CA361496025 rs1188693688 |
209 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA361496031 rs1589501744 |
209 | H>P | No |
ClinGen Ensembl |
|
|
CA361496027 rs1188693688 |
209 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1428776975 CA361496044 |
211 | V>I | No |
ClinGen TOPMed |
|
|
rs1447316737 CA361496058 |
213 | T>A | No |
ClinGen gnomAD |
|
|
rs770895828 CA3473972 |
213 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs779516418 CA3473973 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746360206 CA3473974 |
215 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473977 rs761454619 |
217 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361496121 rs1396426480 |
218 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361496159 rs1304554303 |
220 | P>R | No |
ClinGen gnomAD |
|
|
rs769394271 CA3473978 |
221 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA361496167 rs772617526 |
221 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772617526 CA3473979 |
221 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361496169 rs772617526 |
221 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369607013 CA3473980 |
222 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361496190 rs1561689160 |
223 | S>F | No |
ClinGen Ensembl |
|
|
CA3473981 rs765775423 |
224 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3473982 rs751580878 |
227 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3473983 rs759489331 |
227 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs751580878 CA128453841 |
227 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs767425379 CA3473984 |
228 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3473986 rs373036061 |
229 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473985 rs373036061 |
229 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 232 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262068795 CA361496332 |
235 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361496401 rs1218837884 |
239 | A>D | No |
ClinGen TOPMed |
|
|
CA361496395 rs1386561971 |
239 | A>S | No |
ClinGen gnomAD |
|
|
rs1322750068 CA361496412 |
240 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361496450 rs1456832899 |
244 | Q>* | No |
ClinGen gnomAD |
|
|
CA3473989 rs757429628 |
244 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs778849334 CA3473990 |
245 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361496471 rs1385402830 |
246 | I>V | No |
ClinGen gnomAD |
|
|
rs746395931 CA361496497 |
248 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376074779 CA3473992 |
248 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376074779 COSM3393286 CA361496499 |
248 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA361496507 rs1230785832 |
249 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361496534 rs1207597755 |
251 | V>A | No |
ClinGen gnomAD |
|
|
CA3473994 rs747321937 |
251 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs758160960 CA128453906 |
256 | P>L | No |
ClinGen TOPMed |
|
|
CA3473996 rs77227638 |
256 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748888364 CA3473997 |
257 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748888364 CA361496596 |
257 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3473998 rs373210176 |
258 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361496612 rs1589509003 |
259 | T>P | No |
ClinGen Ensembl |
|
|
CA361496618 rs1473413557 |
259 | T>S | No |
ClinGen TOPMed |
|
|
rs1472288445 CA361496638 |
260 | W>* | No |
ClinGen gnomAD |
|
|
rs1165597254 CA361496676 |
264 | A>E | No |
ClinGen gnomAD |
|
|
rs773668506 CA3473999 |
265 | T>I | No |
ClinGen ExAC |
|
|
rs773668506 CA361496688 |
265 | T>R | No |
ClinGen ExAC |
|
|
CA3474001 rs759577178 |
266 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767515334 CA361496720 |
267 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1022850868 CA128453914 |
269 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361496739 rs1326659106 |
269 | L>V | No |
ClinGen gnomAD |
|
|
CA361496757 rs1217388200 CA361496756 |
270 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3474003 rs370264318 |
272 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1371539458 CA361496774 |
272 | G>R | No |
ClinGen gnomAD |
|
|
rs1458805273 CA361496789 |
273 | I>T | No |
ClinGen TOPMed |
|
|
rs1350465491 CA361496808 |
274 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1286965459 CA361496804 |
274 | N>S | No |
ClinGen gnomAD |
|
|
rs1312851147 CA361496816 |
275 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3474004 rs760589412 |
275 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 277 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361496861 rs1230029917 |
279 | Y>* | No |
ClinGen gnomAD |
|
|
rs1213408515 CA361496854 |
279 | Y>N | No |
ClinGen TOPMed |
|
|
rs1265792011 CA361496865 |
280 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1028690414 CA128453947 |
282 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 283 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323082699 CA361496926 |
284 | I>T | No |
ClinGen gnomAD |
|
|
CA361496951 rs1242181843 |
286 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 289 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 290 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 291 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954363316 CA128453951 |
292 | F>S | No |
ClinGen Ensembl |
|
|
rs1207086715 CA361497044 |
293 | Q>H | No |
ClinGen gnomAD |
|
|
rs987203685 CA128453964 |
293 | Q>K | No |
ClinGen Ensembl |
|
|
CA3474005 rs763794433 |
293 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs374600582 CA128453992 |
294 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs370798833 CA128454010 |
295 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370798833 CA3474006 |
295 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361497114 rs1182450167 |
298 | T>I | No |
ClinGen gnomAD |
|
|
rs1416067191 CA361497119 |
299 | G>R | No |
ClinGen gnomAD |
|
|
CA3474008 rs368454282 |
300 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3474010 rs750458276 |
301 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474009 rs765359583 |
301 | I>V | No |
ClinGen ExAC |
|
|
rs1431988074 CA361497158 |
302 | S>L | No |
ClinGen gnomAD |
|
|
rs201458472 CA3474011 |
303 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361497169 rs1370445288 |
304 | A>T | No |
ClinGen gnomAD |
|
|
CA3474012 rs375597452 |
305 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755401788 CA3474014 |
305 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs368075478 CA3474013 |
305 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361497235 rs1189942027 |
308 | D>E | No |
ClinGen gnomAD |
|
|
CA361497232 rs1311532081 |
308 | D>G | No |
ClinGen gnomAD |
|
|
CA361497267 rs1162266217 |
310 | E>D | No |
ClinGen TOPMed |
|
|
rs1444556973 CA361497281 |
311 | E>D | No |
ClinGen TOPMed |
|
|
rs748975395 CA3474017 |
321 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474016 rs567115998 |
321 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 323 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470961343 CA361497449 |
323 | D>V | No |
ClinGen TOPMed |
|
|
CA3474018 rs770450211 |
324 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs199643799 CA3474019 |
324 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361497465 rs1203236737 |
326 | G>E | No |
ClinGen TOPMed |
|
|
rs1239203203 CA361497474 |
327 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA361497493 rs1181403397 |
329 | G>A | No |
ClinGen gnomAD |
|
|
CA361497489 rs1482297743 |
329 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1451597441 CA361497531 |
332 | K>T | No |
ClinGen gnomAD |
|
|
rs771679747 CA3474021 |
333 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1167033357 CA361497541 |
333 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375951516 CA128454065 |
335 | I>N | No |
ClinGen ESP TOPMed |
|
|
rs1415465011 CA361497582 |
336 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763967342 CA128454072 |
337 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763967342 CA3474024 |
337 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA361497596 rs1279237991 |
338 | E>* | No |
ClinGen TOPMed |
|
|
CA361497648 rs1351754228 |
341 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128454077 rs913995241 |
342 | D>V | No |
ClinGen Ensembl |
|
|
CA3474025 rs776219135 |
343 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3474028 rs367739607 |
345 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765326042 CA3474027 |
345 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 346 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 349 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361497759 rs758512396 |
350 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3474029 rs758512396 |
350 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1219625288 CA361497775 |
351 | S>C | No |
ClinGen gnomAD |
|
|
rs1219625288 CA361497777 |
351 | S>F | No |
ClinGen gnomAD |
|
|
rs1280619437 CA361497829 |
356 | V>M | No |
ClinGen gnomAD |
|
|
CA361497886 rs1434443219 |
361 | P>S | No |
ClinGen gnomAD |
|
|
rs545261528 CA3474032 |
362 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361497914 rs1373988780 |
363 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361497913 rs1373988780 |
363 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs781644500 CA3474033 |
364 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196559178 CA361497949 |
366 | I>T | No |
ClinGen TOPMed |
|
|
rs558471539 CA361497978 |
369 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361497986 rs1411363585 |
369 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs558471539 CA3474035 |
369 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3474036 rs375910829 |
370 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745515085 CA3474037 |
372 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA3474038 rs540954192 |
372 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs891352287 CA128454128 |
373 | D>A | No |
ClinGen TOPMed |
|
|
CA3474039 rs779657331 |
374 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs746951310 CA3474040 |
374 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3474041 rs768434673 |
376 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361498071 rs1458420048 |
376 | S>P | No |
ClinGen gnomAD |
|
|
CA361498083 rs1436868245 |
377 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA128454151 rs1014506897 |
380 | G>C | No |
ClinGen gnomAD |
|
|
CA361498130 rs1404367820 |
380 | G>D | No |
ClinGen TOPMed |
|
|
CA3474044 rs142628885 |
381 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361498177 rs773489391 |
384 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288980459 CA361498171 |
384 | C>R | No |
ClinGen gnomAD |
|
|
rs773489391 CA3474045 |
384 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361498202 rs1283800962 |
386 | I>M | No |
ClinGen gnomAD |
|
|
CA3474046 rs537875169 |
386 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3474047 rs372014000 |
387 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375163547 CA361498247 |
390 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3474049 rs375163547 |
390 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1477938356 CA361498249 |
391 | S>T | No |
ClinGen gnomAD |
|
| rs1561691936 | 392 | F>* | No | Ensembl | |
|
CA3474051 rs753217773 |
393 | T>A | No |
ClinGen ExAC |
|
|
CA3474055 rs750117507 |
399 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325217999 CA361498353 |
400 | D>N | No |
ClinGen gnomAD |
|
|
CA3474058 rs746450194 |
402 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1308529085 CA361498395 |
403 | R>K | No |
ClinGen gnomAD |
|
|
rs372897104 CA3474060 |
404 | L>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1279070115 CA361498427 |
406 | T>A | No |
ClinGen gnomAD |
|
|
rs199556803 CA3474061 |
406 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128454217 rs532466154 |
407 | A>T | No |
ClinGen 1000Genomes |
|
|
CA3474065 rs763166170 |
408 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474066 COSM1595047 rs774534952 |
410 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759576056 CA3474067 |
411 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767632448 CA3474068 |
412 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474069 rs370199750 |
412 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 415 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361498523 rs1472875979 |
415 | A>T | No |
ClinGen gnomAD |
|
|
rs1411239715 CA361498576 |
419 | N>S | No |
ClinGen gnomAD |
|
|
CA361498589 rs1423741415 |
420 | I>T | No |
ClinGen gnomAD |
|
|
CA128454263 rs927879028 |
420 | I>V | No |
ClinGen Ensembl |
|
|
CA361498599 rs1169013129 |
421 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361498608 rs1188874623 |
422 | V>A | No |
ClinGen gnomAD |
|
|
CA361498621 rs1407928050 |
424 | A>T | No |
ClinGen gnomAD |
|
|
CA361498654 rs1361806242 |
427 | R>K | No |
ClinGen TOPMed |
|
|
rs764561008 CA3474071 |
429 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA128454270 rs960579159 |
430 | P>Q | No |
ClinGen Ensembl |
|
|
rs1164182551 CA361498694 |
431 | P>H | No |
ClinGen gnomAD |
|
|
CA361498711 rs1282621596 |
433 | S>Y | No |
ClinGen gnomAD |
|
|
rs1589529640 TCGA novel CA361498750 |
437 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1334326806 CA361498774 |
439 | T>N | No |
ClinGen TOPMed |
|
|
rs751189949 CA3474076 |
441 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423785833 CA361498792 |
441 | Q>R | No |
ClinGen TOPMed |
|
|
rs754510135 CA3474077 |
442 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1195722797 CA361498836 |
445 | I>F | No |
ClinGen gnomAD |
|
|
CA3474079 rs552765425 |
446 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777568111 CA3474081 |
447 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755978034 CA3474080 |
447 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3474082 rs749132060 |
450 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1182256144 CA361498899 |
451 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3474084 rs200297928 |
452 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 454 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 454 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775576610 CA3474087 |
455 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474090 rs777252767 |
457 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA361498933 rs764642673 |
457 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474089 rs764642673 |
457 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474091 rs762306578 |
458 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1300173055 CA361498947 |
459 | V>G | No |
ClinGen gnomAD |
|
|
rs201757016 CA3474093 |
460 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3474094 rs181615917 |
461 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361498959 rs1201635505 |
461 | L>R | No |
ClinGen gnomAD |
|
|
CA361498957 rs181615917 |
461 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766940096 CA361498965 |
462 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766940096 CA3474095 |
462 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370966293 CA3474099 |
466 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370966293 COSM3409942 CA3474100 |
466 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 467 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361498996 rs1378093484 |
467 | R>K | No |
ClinGen gnomAD |
|
|
CA361499003 rs1170833341 |
468 | G>D | No |
ClinGen gnomAD |
|
|
rs749866543 CA128454393 |
468 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 468 | G>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746085915 CA3474103 |
469 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1322773399 CA361499023 |
471 | I>M | No |
ClinGen gnomAD |
|
|
rs1353392173 CA361499020 |
471 | I>N | No |
ClinGen TOPMed |
|
|
rs1459982001 CA361499018 |
471 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA128454419 rs891383243 |
474 | V>A | No |
ClinGen Ensembl |
|
|
CA3474107 rs747130914 |
474 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs548569433 CA3474108 |
476 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3474111 rs765708858 |
477 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474110 rs762394525 |
477 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA361499077 rs773558298 |
480 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773558298 CA3474112 |
480 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 481 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269569845 CA361499097 |
483 | E>* | No |
ClinGen gnomAD |
|
|
CA361499108 rs767148207 |
484 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767148207 CA3474114 |
484 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3474115 rs199749783 |
490 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361499150 rs199749783 |
490 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs897472339 CA128454441 |
492 | A>V | No |
ClinGen Ensembl |
|
|
rs917902438 CA128454454 |
493 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3474116 rs760246804 |
493 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs994621678 CA128454455 |
495 | T>S | No |
ClinGen Ensembl |
|
|
rs763582836 CA3474117 |
497 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361499204 rs1589537792 |
499 | S>A | No |
ClinGen Ensembl |
|
|
rs1589537792 CA361499203 |
499 | S>P | No |
ClinGen Ensembl |
|
|
rs969137248 CA128454456 |
504 | Y>C | No |
ClinGen gnomAD |
|
|
rs536211455 CA3474118 |
505 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361499249 rs1239367876 |
506 | S>F | No |
ClinGen gnomAD |
|
|
CA3474120 rs200620626 |
507 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453332441 CA361499263 |
508 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3474122 rs556183945 |
509 | S>* | No |
ClinGen 1000Genomes |
|
|
rs750187565 CA3474121 |
509 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361499264 rs750187565 |
509 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128454464 rs865915931 |
511 | T>I | No |
ClinGen TOPMed |
|
|
rs373591066 CA3474127 |
512 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373591066 CA3474126 |
512 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361499288 rs748668164 |
513 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs748668164 CA3474129 |
513 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA128454470 rs867768935 |
513 | V>M | No |
ClinGen TOPMed |
|
|
CA3474131 rs773471878 |
515 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361499301 rs1237860716 |
516 | A>T | No |
ClinGen gnomAD |
|
|
rs147632103 CA3474132 |
516 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530963064 CA3474135 |
518 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361499342 rs1268035794 |
522 | Y>C | No |
ClinGen gnomAD |
|
|
rs968433488 CA128454537 |
522 | Y>D | No |
ClinGen Ensembl |
|
|
CA361499344 rs1268035794 |
522 | Y>S | No |
ClinGen gnomAD |
|
|
CA361499350 rs1483361714 |
523 | E>A | No |
ClinGen gnomAD |
|
|
rs368795324 CA128454552 |
524 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 530 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763601254 CA128454558 |
531 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474137 rs753308273 |
532 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474140 rs372202008 |
533 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372202008 CA3474139 |
533 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751841732 CA3474143 |
535 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 539 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361499467 rs887708182 |
539 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs185791741 CA3474145 |
541 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1259330677 CA361499476 |
541 | P>S | No |
ClinGen TOPMed |
|
|
CA361499480 rs1315902930 |
542 | L>F | No |
ClinGen TOPMed |
|
|
rs1390358900 CA361499487 |
543 | S>G | No |
ClinGen gnomAD |
|
|
CA3474147 rs769739876 |
543 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA128454609 rs541341061 |
545 | N>D | No |
ClinGen 1000Genomes |
|
|
CA128454618 rs1035989165 |
548 | L>S | No |
ClinGen TOPMed |
|
|
rs1406207982 CA361499533 |
550 | L>V | No |
ClinGen TOPMed |
|
|
rs771341809 CA3474150 |
552 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1207198913 CA361499553 |
553 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1207198913 CA361499554 |
553 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs774633321 CA3474151 |
554 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs940307932 CA128454667 |
555 | Q>R | No |
ClinGen Ensembl |
|
|
rs1182540384 CA361499583 |
557 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3474153 rs375300806 |
558 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361499598 rs1183309479 |
559 | A>G | No |
ClinGen gnomAD |
|
|
rs1183309479 CA361499599 |
559 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391155615 CA361499602 |
560 | P>S | No |
ClinGen gnomAD |
|
|
CA3474155 rs368593595 |
563 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461001534 CA361499637 |
565 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1178706213 CA361499640 |
566 | A>P | No |
ClinGen TOPMed |
|
|
rs1178706213 CA361499639 |
566 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 567 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 569 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361499669 rs1314002801 |
570 | D>E | No |
ClinGen gnomAD |
|
|
rs930319561 CA361499667 |
570 | D>G | No |
ClinGen gnomAD |
|
|
CA128454690 rs930319561 |
570 | D>V | No |
ClinGen gnomAD |
|
|
CA3474159 rs762738990 |
574 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA128454725 rs904942152 |
575 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1048688884 CA128454711 |
575 | V>M | No |
ClinGen gnomAD |
|
|
rs766278950 CA3474160 |
577 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474161 rs554522683 |
578 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3474162 rs190249934 |
579 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199517824 CA3474163 |
580 | R>C | Variant assessed as Somatic; 0.0002313 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200601931 CA3474164 |
580 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200601931 CA3474165 |
580 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749803871 CA3474167 |
581 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3474168 rs757662807 |
582 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3474169 rs563319884 |
583 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128454826 rs545479443 |
584 | P>L | No |
ClinGen TOPMed |
|
|
rs988356163 CA128454829 |
585 | G>R | No |
ClinGen TOPMed |
|
|
CA3474171 rs772390810 |
586 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746275941 CA3474170 |
586 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776337117 CA3474172 |
588 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3474173 rs747745561 |
589 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA361499776 rs1335640902 |
590 | K>N | No |
ClinGen gnomAD |
|
|
CA3474174 rs532502013 |
591 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762980421 CA3474176 |
592 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs772532099 CA3474175 |
592 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 598 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468428170 CA361499824 |
598 | S>T | No |
ClinGen TOPMed |
|
|
CA3474177 rs142282950 |
599 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1321458841 CA361499834 |
600 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3474179 rs759444247 |
602 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1466446291 CA361499854 |
603 | W>G | No |
ClinGen gnomAD |
|
|
CA361499864 rs1466259455 |
604 | L>F | No |
ClinGen gnomAD |
|
|
rs1489047184 CA361499874 |
605 | S>F | No |
ClinGen gnomAD |
|
|
rs1241912384 CA361499870 |
605 | S>P | No |
ClinGen gnomAD |
|
|
rs528627644 CA3474181 |
606 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3474182 rs376650362 |
607 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764262966 CA3474183 |
607 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3474185 rs757333940 |
609 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA3474187 rs746373854 |
610 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758824309 CA3474188 |
611 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780341962 CA3474189 |
611 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361499912 rs1561696267 |
612 | S>N | No |
ClinGen Ensembl |
|
|
CA3474192 CA3474191 rs769293241 |
615 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361499937 rs1422774939 |
616 | L>F | No |
ClinGen gnomAD |
|
|
COSM1595043 CA3474194 rs770534822 |
618 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361499953 rs770534822 |
618 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226563047 CA361499956 |
619 | V>M | No |
ClinGen TOPMed |
|
|
rs954306712 CA128454908 |
622 | H>R | No |
ClinGen Ensembl |
|
|
CA361499972 rs1222271895 |
622 | H>Y | No |
ClinGen gnomAD |
|
|
rs1283913930 CA361499987 |
624 | G>D | No |
ClinGen gnomAD |
|
|
rs771996319 CA3474197 |
625 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361499990 rs1316877052 |
625 | E>K | No |
ClinGen TOPMed |
|
|
rs760971907 CA3474200 COSM1595041 |
627 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3474201 rs372676262 |
627 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 629 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361500017 rs1561696680 |
629 | A>V | No |
ClinGen Ensembl |
|
|
CA361500019 rs377389968 |
630 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3474205 rs765291212 |
630 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3474204 rs765291212 |
630 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3474203 rs377389968 |
630 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370062374 CA3474206 |
635 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405688914 CA361500047 |
635 | R>T | No |
ClinGen gnomAD |
|
|
CA361500057 rs3749769 |
636 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377687399 CA3474208 |
637 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361500068 rs1308625182 |
638 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs375122600 CA3474210 |
639 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589557202 CA361500089 |
641 | S>I | No |
ClinGen Ensembl |
|
|
CA361500096 rs1242099855 |
642 | L>H | No |
ClinGen TOPMed |
|
|
rs770577946 CA3474212 |
643 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361500106 rs1380203392 |
644 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361500115 rs1248535405 |
645 | A>V | No |
ClinGen gnomAD |
|
|
rs1589557993 CA361500120 |
646 | V>G | No |
ClinGen Ensembl |
|
|
rs778498828 CA3474213 |
646 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772084097 CA3474215 |
648 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3474217 rs760424169 |
649 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA361500143 rs1231915325 |
650 | G>S | No |
ClinGen gnomAD |
|
|
rs1359981394 CA361500153 |
651 | Q>R | No |
ClinGen TOPMed |
|
|
rs776779922 CA361500157 |
652 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474220 rs776779922 |
652 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474221 rs761969782 |
654 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474222 rs201825683 |
655 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145718404 CA361500200 |
659 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145718404 CA3474224 |
659 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752075185 CA3474226 |
660 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA3474227 rs755365273 |
662 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 665 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753544983 CA3474230 |
665 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756928954 CA3474231 |
666 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778586702 CA3474232 |
671 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361500287 rs1470955697 |
673 | A>D | No |
ClinGen TOPMed |
|
|
CA3474233 rs373850794 |
675 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373968137 CA128455159 |
676 | G>C | No |
ClinGen gnomAD |
|
|
CA3474234 rs771576875 |
676 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3474235 rs779919758 |
678 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147783721 CA3474237 |
679 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477534800 CA361500321 |
679 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1159647700 CA361500332 |
681 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1443761579 CA361500334 |
681 | P>H | No |
ClinGen gnomAD |
|
|
CA3474238 rs776423830 |
682 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA361500355 rs1358521218 |
685 | E>Q | No |
ClinGen TOPMed |
|
|
rs748403581 COSM1647786 CA3474239 |
687 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3474241 CA3474240 rs538744733 |
688 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361500385 rs1413977666 |
689 | L>P | No |
ClinGen gnomAD |
|
|
CA3474242 rs188043964 |
690 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361500401 rs1402992376 |
692 | Y>C | No |
ClinGen gnomAD |
|
|
rs565871444 CA3474244 |
693 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565871444 CA3474243 |
693 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753061273 CA3474247 |
694 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747720731 CA3474246 |
694 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361500426 rs1227328278 |
696 | A>V | No |
ClinGen gnomAD |
|
|
rs765018710 CA361500442 |
697 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3474249 rs765018710 |
697 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA361500434 rs1276032851 |
697 | V>M | No |
ClinGen gnomAD |
|
|
rs757899891 CA3474251 |
698 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769617162 CA3474250 |
698 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769617162 CA361500445 |
698 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757899891 CA3474252 |
698 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3474254 rs754907464 |
699 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1589565786 CA361500465 |
699 | V>G | No |
ClinGen Ensembl |
|
|
rs761887627 CA3474256 |
700 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773491411 CA3474258 |
701 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3474259 rs773491411 |
701 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3474260 rs770920034 |
702 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128455316 rs374581472 |
703 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA3474261 rs200974828 |
706 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536930748 CA361500566 |
708 | V>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs536930748 CA128455339 |
708 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1383258618 CA361500584 |
709 | I>M | No |
ClinGen gnomAD |
|
|
CA3474263 rs749102403 |
710 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382053021 CA361500588 |
710 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs368202826 CA3474267 |
717 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361500685 rs1239308721 |
718 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs188827871 CA3474269 |
719 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751034521 CA3474270 |
720 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200108286 CA3474271 |
722 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1223444295 CA361500756 |
723 | H>R | No |
ClinGen TOPMed |
|
|
CA3474274 rs755961534 |
726 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474273 rs373084923 |
726 | R>W | Variant assessed as Somatic; 9.281e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1419819549 CA361500797 |
727 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777486710 CA3474275 |
729 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs749502643 CA3474276 |
730 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361500831 rs749502643 |
730 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474277 rs559544645 |
731 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361500868 rs1469979881 |
733 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3474278 rs550773622 |
734 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 735 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361500885 rs1173562021 |
735 | V>M | No |
ClinGen TOPMed |
|
|
rs745998723 CA3474279 |
738 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3474280 rs377298438 |
739 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs926303279 CA128455416 |
739 | H>Y | No |
ClinGen gnomAD |
|
|
CA3474281 rs776193204 |
740 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128455438 rs774181376 |
741 | V>M | No |
ClinGen Ensembl |
|
|
rs370032217 CA3474282 |
742 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128455439 rs917679696 |
742 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 743 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3474286 rs762537440 |
745 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs777099869 CA3474284 |
745 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs762537440 CA3474285 |
745 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs573277021 CA3474288 |
747 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 750 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3474289 rs767001796 |
752 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs756004707 CA3474291 |
753 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs752645800 CA3474290 |
753 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3474292 rs777566456 |
755 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 757 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3474293 rs542102197 |
758 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128455501 rs562247940 |
759 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA361501151 rs562247940 |
759 | L>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3474296 rs746061797 |
761 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772286799 CA3474297 |
765 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1163477660 CA361501212 |
765 | K>R | No |
ClinGen gnomAD |
|
|
rs1462013657 CA361501226 |
767 | H>Y | No |
ClinGen gnomAD |
|
|
CA804789630 rs1316160577 |
768 | L>M* | No |
ClinGen TOPMed |
|
|
CA3474299 rs747554046 |
769 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA361501274 rs1352663124 |
770 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1445565178 CA361501268 |
770 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 771 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384687423 CA361501296 |
772 | Q>R | No |
ClinGen gnomAD |
|
|
rs551265067 CA3474301 |
774 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3474302 rs762280864 |
774 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001215863 CA128455536 |
777 | D>N | No |
ClinGen Ensembl |
|
|
CA3474304 rs774113255 |
778 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128455553 rs369812265 |
783 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs375469126 CA3474306 |
783 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1019536231 CA128455559 |
786 | E>V | No |
ClinGen TOPMed |
|
|
rs1443108777 CA361501529 |
789 | E>K | No |
ClinGen gnomAD |
|
|
CA361501544 rs1183399090 |
790 | P>T | No |
ClinGen gnomAD |
|
|
VAR_048565 rs17097274 CA3474309 |
791 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 791 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3474310 rs764056952 |
792 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA3474311 rs764056952 |
792 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3474314 rs750658260 |
793 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs371490086 CA361501583 |
793 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371490086 CA3474313 COSM1651427 |
793 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA361501604 rs1253133454 |
794 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs980651625 CA128455618 |
796 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs184640789 CA361501629 CA3474316 |
798 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758657243 CA3474315 |
798 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3474319 rs781757006 |
801 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187461819 CA3474318 |
801 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3474320 rs765508317 |
804 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3474321 rs765508317 |
804 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA128455642 rs765508317 |
804 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773382376 CA3474322 |
805 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3474324 rs771759945 |
807 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474325 rs368501516 |
808 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1203371481 CA361501685 |
808 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs568448786 CA3478528 |
809 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128409902 rs951185891 |
811 | P>L | No |
ClinGen gnomAD |
|
|
rs983998465 CA128409930 |
812 | P>H | No |
ClinGen Ensembl |
|
|
CA3478530 rs750564390 |
814 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478531 rs758427900 |
817 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1016713543 CA128409955 |
818 | F>L | No |
ClinGen Ensembl |
|
|
rs1163193977 CA361566926 |
820 | Q>R | No |
ClinGen TOPMed |
|
|
CA3478532 rs201391904 |
821 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361566953 rs1470545451 |
822 | Q>H | No |
ClinGen TOPMed |
|
|
rs755464933 CA3478534 |
824 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361566994 rs200418116 |
825 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200418116 CA3478535 |
825 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1304361659 CA361567019 |
826 | T>I | No |
ClinGen gnomAD |
|
|
rs1595274161 CA361567006 |
826 | T>P | No |
ClinGen Ensembl |
|
|
CA3478537 rs538734954 |
827 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478539 rs773899530 |
828 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361567042 rs773899530 |
828 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478538 rs773899530 |
828 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3478556 rs778130416 |
830 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361568554 rs1246198657 |
831 | N>I | No |
ClinGen TOPMed |
|
|
CA361568557 rs1216666169 |
831 | N>K | No |
ClinGen TOPMed |
|
|
rs546453598 CA3478558 |
833 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361568605 rs1240988786 |
835 | T>I | No |
ClinGen gnomAD |
|
|
rs746487145 CA3478560 |
836 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361568615 rs1595961990 |
837 | T>P | No |
ClinGen Ensembl |
|
|
CA361568623 rs1303924776 |
837 | T>S | No |
ClinGen TOPMed |
|
|
rs1386912520 CA361568660 |
839 | P>L | No |
ClinGen gnomAD |
|
|
rs1422538114 CA361568652 |
839 | P>S | No |
ClinGen gnomAD |
|
|
rs1453435374 CA361568667 |
840 | N>D | No |
ClinGen gnomAD |
|
|
CA3478561 rs377061064 |
840 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361568730 rs1417754900 |
842 | Q>P | No |
ClinGen gnomAD |
|
|
rs984518760 CA128414138 |
844 | D>Y | No |
ClinGen Ensembl |
|
|
CA3478565 rs773048793 |
849 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361568874 rs1326296096 |
851 | M>V | No |
ClinGen gnomAD |
|
|
CA361568953 rs1241228956 |
854 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA128414155 rs769108315 |
856 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3478584 rs762789865 |
859 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770587030 CA3478585 |
859 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361569738 rs1456176347 |
863 | S>G | No |
ClinGen gnomAD |
|
|
CA361569743 rs1180757756 |
863 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361569756 rs1473736492 |
864 | S>F | No |
ClinGen gnomAD |
|
|
CA361569752 rs1237904575 |
864 | S>P | No |
ClinGen gnomAD |
|
|
CA128417740 rs905130929 |
866 | L>P | No |
ClinGen TOPMed |
|
|
CA361569775 rs1448442252 |
867 | G>R | No |
ClinGen TOPMed |
|
|
CA3478590 rs761149166 |
868 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752758180 CA3478589 |
868 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361569797 rs1466168256 |
869 | G>A | No |
ClinGen gnomAD |
|
|
rs754203270 CA3478592 |
871 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361569811 rs1278517639 |
871 | G>S | No |
ClinGen TOPMed |
|
|
COSM1434613 COSM1434610 COSM1434636 COSM1434620 COSM1434638 COSM1434609 COSM1434635 CA361569834 rs1457918073 COSM1434622 COSM1434630 COSM1434619 COSM1434612 COSM1434621 COSM1434625 COSM1434628 COSM1434615 COSM1434631 COSM1434634 COSM1434618 COSM1434614 COSM1434623 COSM1434611 COSM1434626 COSM1434616 COSM1434624 COSM1434627 COSM1434617 |
873 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA128417772 rs879030278 |
873 | M>R | No |
ClinGen TOPMed |
|
|
CA128417771 rs879030278 |
873 | M>T | No |
ClinGen TOPMed |
|
|
rs757663132 CA3478593 |
873 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA128417773 rs143630962 |
876 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA361569871 |
877 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA3478595 |
877 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148119281 CA3478596 |
878 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM252705 COSM252695 COSM252694 COSM252689 COSM252703 COSM252706 COSM252687 COSM252702 COSM252686 COSM252700 COSM252699 COSM252707 COSM252692 COSM252698 rs780918754 COSM252690 COSM252693 COSM252701 COSM252697 COSM252685 COSM252704 COSM252691 COSM252688 COSM252696 CA3478597 COSM252684 |
878 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361569882 rs780918754 |
878 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA361569892 rs1286219897 |
879 | Y>C | No |
ClinGen TOPMed |
|
|
rs370503146 CA361569900 CA128417777 |
880 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1430257603 CA361569909 |
881 | P>S | No |
ClinGen TOPMed |
|
|
CA361569934 rs1194909537 |
883 | F>S | No |
ClinGen gnomAD |
|
|
rs1596312562 CA361569940 |
884 | T>P | No |
ClinGen Ensembl |
|
|
CA361569954 rs1279056657 |
885 | L>R | No |
ClinGen gnomAD |
|
|
CA361569967 CA128417780 rs779589499 |
886 | Q>H | No |
ClinGen gnomAD |
|
|
CA361569972 rs1185153127 |
887 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1542463 COSM1542479 COSM1542470 COSM1542466 COSM1542482 COSM1542480 COSM1542471 COSM1542468 COSM1542464 COSM1542455 COSM1542458 COSM1542467 COSM1542475 CA3478601 COSM1542469 rs116366286 COSM1542456 COSM1542474 COSM1542453 COSM1542454 COSM1542478 COSM1542459 COSM1542465 COSM1542460 COSM1542461 COSM1542457 COSM1542462 COSM1542472 |
888 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs770767470 CA3478602 |
889 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361570002 rs774071540 |
890 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774071540 CA3478603 |
890 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478604 rs759809591 |
892 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1261501 COSM1261498 CA3478605 COSM1261488 COSM1261490 COSM1261496 COSM1261482 COSM1261491 COSM1261494 COSM1261487 COSM1261511 COSM1261484 COSM1261508 COSM1261493 COSM1261503 rs61749029 COSM1261500 COSM1261507 COSM1261509 COSM1261504 COSM1261495 COSM1261485 COSM1261499 COSM1261497 COSM1261483 COSM1261489 COSM1261492 COSM1261486 |
892 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA128417831 rs979000054 |
895 | V>I | No |
ClinGen TOPMed |
|
|
rs760786015 CA3478607 |
898 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341623011 CA361570104 |
899 | G>D | No |
ClinGen gnomAD |
|
|
CA128417833 rs548074156 |
899 | G>S | No |
ClinGen 1000Genomes |
|
|
CA361570117 rs1250292751 |
900 | S>I | No |
ClinGen TOPMed |
|
|
CA3478608 rs201009079 |
901 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478610 rs377350933 |
907 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128417877 rs1027676257 |
908 | A>T | No |
ClinGen Ensembl |
|
|
rs1256158642 CA361570180 |
908 | A>V | No |
ClinGen gnomAD |
|
|
CA128417880 rs779731716 |
910 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs536900646 CA3478612 |
911 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536900646 CA3478613 |
911 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765756193 CA3478611 |
911 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767257788 CA3478614 |
913 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361570222 rs767257788 |
913 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361570244 rs1352222210 |
915 | A>V | No |
ClinGen TOPMed |
|
|
CA361570255 rs1175280816 |
916 | P>L | No |
ClinGen gnomAD |
|
|
rs752246201 CA3478615 |
917 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA361570256 rs1306158892 |
917 | A>T | No |
ClinGen TOPMed |
|
|
CA3478617 rs777082914 |
919 | G>D | No |
ClinGen ExAC |
|
|
CA3478618 rs200541479 |
921 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405623579 CA361570300 |
922 | N>K | No |
ClinGen gnomAD |
|
|
rs202071188 CA3478620 |
926 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422052114 CA361570368 |
932 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1384881403 CA361570382 |
933 | K>Y | No |
ClinGen gnomAD |
No associated diseases with Q9Y5G4
11 regional properties for Q9Y5G4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin-like | 49 - 137 | IPR002126-1 |
| domain | Cadherin-like | 138 - 246 | IPR002126-2 |
| domain | Cadherin-like | 246 - 351 | IPR002126-3 |
| domain | Cadherin-like | 352 - 566 | IPR002126-4 |
| domain | Cadherin-like | 583 - 687 | IPR002126-5 |
| domain | Cadherin, N-terminal | 34 - 116 | IPR013164 |
| conserved_site | Cadherin conserved site | 234 - 244 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 444 - 454 | IPR020894-2 |
| conserved_site | Cadherin conserved site | 554 - 564 | IPR020894-3 |
| domain | Cadherin, C-terminal catenin-binding domain | 815 - 936 | IPR031904 |
| domain | Cadherin, cytoplasmic C-terminal domain | 692 - 775 | IPR032455 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| Q9BZA8 | PCDH11Y | Protocadherin-11 Y-linked | Homo sapiens (Human) | PR |
| Q08174 | PCDH1 | Protocadherin-1 | Homo sapiens (Human) | PR |
| Q9HC56 | PCDH9 | Protocadherin-9 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9Y5I3 | PCDHA1 | Protocadherin alpha-1 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPTKCQLR | GRLVLLCSLL | GMLWEARASQ | IRYSVPEETE | KGYIVGNISK | DLALEPRELA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ERRVRIVSRG | RTQLFSLNPR | SGTLVTAGRI | DREELCAQSP | RCLVNFKVLV | EDRVKLYGIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IEVTDINDSA | PKFQAESLEV | KINEIAVPGA | RYPLPEAIDP | DVGVNSLQSY | QLSPNHHFSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NVQTGDNGAI | NPELVLERAL | DREEATAHHL | VLTASDGGEP | RRSSTVRIHV | TVLDTNDNAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VFAQRIYRVK | VLENVPPGTW | LLTATASDLD | EGINGKVAYK | FWKINEKQSL | LFQLNENTGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISTAKSLDYE | ECSFYEMEIQ | AEDGGGLKGW | TKVLISVEDV | NDNRPEVTIT | SLFSPVREDA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PQGTVILLFN | AHDRDSGKNG | QVVCSIQENL | SFTLENSEED | YYRLLTAQIL | DREKASEYNI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TVTATDRGTP | PLSTEIHITL | QVTDINDNPP | AFSQASYSVY | LPENNARGTS | IFSVIAYDPD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SNENSRVIYS | LAEDTIQGSP | LSTYVSINSD | TGVLYALCSF | DYEQFRDLQM | QVTASDSGSP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLSSNVSLRL | FVLDQNDNAP | EILYPALPTD | GSTGVELAPR | SAEPGYLVTK | VVAVDRDSGQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NAWLSYRLFK | ASEPGLFSVG | LHTGEVRTAR | ALLDRDALKQ | SLVVAVQDHG | QPPLSATVTL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TVAIADSIPD | ILADLGSLQI | PADLEASDLT | LYLVVAVAVV | SCVFLTFVIT | LLALRLRHWH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SSHLLRATSD | GLAGVPTSHF | VGVDGVRAFL | QTYSQEFSLT | ADSRKSHLIF | PQPNYADTLI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SQQSCEKNEP | LCVSVDSKFP | IEDTPLVPQA | PPNTDWRFSQ | AQRPGTSGSQ | NGDDTGTWPN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NQFDTEMLQA | MILASASEAA | DGSSTLGGGA | GTMGLSARYG | PQFTLQHVPD | YRQNVYIPGS |
| 910 | 920 | 930 | |||
| NATLTNAAGK | RDGKAPAGGN | GNKKKSGKKE | KK |