Q53LP3
PR
Gene name |
SOWAHC (ANKRD57, C2orf26) |
Protein name |
Ankyrin repeat domain-containing protein SOWAHC |
Names |
Ankyrin repeat domain-containing protein 57, Protein sosondowah homolog C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65124 |
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 Q53LP3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q53LP3-F1 | Predicted | AlphaFoldDB |
508 variants for Q53LP3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA348077590 rs1438194463 |
3 | G>W | No |
ClinGen TOPMed |
|
|
rs1263373051 CA348077601 |
4 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA53520660 rs954225570 |
6 | E>Q | No |
ClinGen TOPMed |
|
|
rs1383091946 CA348077636 |
7 | W>* | No |
ClinGen gnomAD |
|
|
CA348077663 rs1395724847 |
10 | E>Q | No |
ClinGen TOPMed |
|
|
CA348077677 rs1164091065 |
11 | A>P | No |
ClinGen gnomAD |
|
|
CA348077704 rs1017556901 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA53520665 rs1017556901 |
14 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348077706 rs1290748825 |
15 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348077712 rs1480545963 |
15 | P>L | No |
ClinGen TOPMed |
|
|
rs1290748825 CA348077708 |
15 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237201520 CA348077737 |
17 | A>V | No |
ClinGen TOPMed |
|
|
rs965845386 CA53520666 |
18 | V>A | No |
ClinGen TOPMed |
|
|
rs1301985946 CA348077812 |
26 | G>R | No |
ClinGen TOPMed |
|
|
CA53520672 rs557527053 |
28 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1382036441 CA348077834 |
28 | R>Q | No |
ClinGen gnomAD |
|
|
CA348077832 rs557527053 |
28 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
COSM3708811 rs1451132520 CA348077841 |
29 | A>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA348077838 rs1451132520 |
29 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348077843 rs1390580425 |
29 | A>V | No |
ClinGen TOPMed |
|
|
rs571248763 CA1826467 |
31 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348077871 rs1374785946 |
32 | A>V | No |
ClinGen TOPMed |
|
|
rs1223545414 CA348077892 |
34 | L>Q | No |
ClinGen gnomAD |
|
|
rs1223545414 CA348077890 |
34 | L>R | No |
ClinGen gnomAD |
|
|
CA348077893 rs1326626416 |
35 | V>M | No |
ClinGen gnomAD |
|
|
CA348077906 rs1205108258 |
36 | Q>* | No |
ClinGen gnomAD |
|
|
rs1460453999 CA348077913 |
36 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs979632101 CA53520685 |
36 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348077914 rs1207967389 |
37 | H>N | No |
ClinGen gnomAD |
|
|
CA53520686 rs924966782 |
38 | F>L | No |
ClinGen TOPMed |
|
|
rs1234513843 CA348077937 |
38 | F>L | No |
ClinGen gnomAD |
|
|
rs553603778 CA53520700 |
38 | F>Y | No |
ClinGen 1000Genomes |
|
|
rs1470415056 CA348077939 |
39 | R>G | No |
ClinGen gnomAD |
|
|
rs765212941 CA1826468 |
39 | R>M | No |
ClinGen ExAC |
|
|
CA348077946 CA348077947 rs1176411425 |
39 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1481542121 CA348077953 |
40 | G>D | No |
ClinGen gnomAD |
|
|
CA1826469 rs775456750 |
40 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1826470 rs762810046 |
42 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348077980 rs1442008985 |
43 | G>A | No |
ClinGen gnomAD |
|
|
CA348077973 rs1355619945 |
43 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA348077977 rs1355619945 |
43 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1442008985 CA348077981 |
43 | G>V | No |
ClinGen gnomAD |
|
|
CA348077986 rs1347701982 |
44 | G>C | No |
ClinGen gnomAD |
|
|
rs1225001056 CA348077988 |
44 | G>D | No |
ClinGen gnomAD |
|
|
CA348077984 rs1347701982 |
44 | G>R | No |
ClinGen gnomAD |
|
|
CA1826472 rs751208518 |
45 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA348078008 rs756794665 |
46 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826473 rs756794665 |
46 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53520709 rs937704680 |
46 | P>S | No |
ClinGen TOPMed |
|
|
rs1203649796 CA348078019 |
47 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348078012 rs1438335599 |
47 | E>K | No |
ClinGen gnomAD |
|
|
CA348078030 rs1490764644 |
48 | Q>* | No |
ClinGen gnomAD |
|
|
rs1200476904 CA348078044 |
49 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1169710932 CA348078060 |
50 | A>D | No |
ClinGen gnomAD |
|
|
rs1477119808 CA348078055 |
50 | A>S | No |
ClinGen gnomAD |
|
|
rs1169710932 CA348078057 |
50 | A>V | No |
ClinGen gnomAD |
|
|
rs1409903413 CA348078064 |
51 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1409903413 CA348078066 |
51 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs896758930 CA53520714 |
51 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA348078069 rs896758930 |
51 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1409903413 CA348078063 |
51 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348078084 rs1412814816 |
53 | R>C | No |
ClinGen TOPMed |
|
|
rs779366267 CA1826478 |
54 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1826477 rs755513800 |
54 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755513800 CA348078091 |
54 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779366267 CA348078098 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53520736 rs1037166889 |
55 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1410055373 CA348078120 |
56 | F>C | No |
ClinGen TOPMed |
|
|
rs1573940705 CA348078130 |
57 | K>R | No |
ClinGen Ensembl |
|
|
CA53520737 rs151283137 |
58 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758750952 CA1826480 |
58 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1272357788 CA348078169 |
61 | N>S | No |
ClinGen gnomAD |
|
|
rs747256789 CA1826482 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA348078193 rs1186490270 |
63 | V>G | No |
ClinGen TOPMed |
|
|
rs1450097508 CA348078210 |
65 | T>S | No |
ClinGen gnomAD |
|
|
CA348078229 rs1195514520 |
67 | R>H | No |
ClinGen gnomAD |
|
|
rs1475098031 CA348078235 |
68 | V>I | No |
ClinGen gnomAD |
|
|
CA1826485 rs745896353 |
69 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348078247 rs1167319377 |
69 | D>Y | No |
ClinGen gnomAD |
|
|
CA348078255 rs1274724281 |
70 | P>T | No |
ClinGen TOPMed |
|
|
CA348078266 rs1425766925 |
71 | A>T | No |
ClinGen gnomAD |
|
|
CA348078290 rs1333938343 |
73 | G>S | No |
ClinGen TOPMed |
|
|
CA348078315 rs1291334766 |
75 | K>N | No |
ClinGen TOPMed |
|
|
rs775544832 CA1826491 |
76 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469355615 CA348078345 |
78 | H>L | No |
ClinGen gnomAD |
|
|
CA348078339 rs1319002228 |
78 | H>Y | No |
ClinGen TOPMed |
|
|
CA348078354 rs1326552190 |
79 | L>F | No |
ClinGen gnomAD |
|
|
CA1826492 rs762897387 |
80 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA348078387 rs1384889563 |
82 | R>K | No |
ClinGen gnomAD |
|
|
rs556419687 CA1826493 |
85 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353944478 CA348078444 |
87 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1264642972 CA348078438 |
87 | P>S | No |
ClinGen gnomAD |
|
|
rs965961435 CA53520853 |
88 | S>F | No |
ClinGen TOPMed |
|
|
rs1446542974 CA348078477 |
90 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348078495 rs1445787000 |
92 | G>W | No |
ClinGen gnomAD |
|
|
rs921520067 CA53520884 |
93 | D>A | No |
ClinGen gnomAD |
|
|
rs773960768 CA1826494 |
95 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773960768 CA348078529 |
95 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA348078550 rs1159978245 |
97 | I>T | No |
ClinGen gnomAD |
|
|
rs1385216032 CA348078563 |
98 | Q>H | No |
ClinGen gnomAD |
|
|
CA348078574 rs1456302170 |
99 | V>E | No |
ClinGen gnomAD |
|
|
CA53520894 rs576462626 |
99 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs576462626 CA348078566 |
99 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs925045595 CA53520897 |
103 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348078613 rs1393591236 |
104 | E>K | No |
ClinGen gnomAD |
|
|
CA348078620 rs1453326909 |
104 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1338536082 CA348078632 |
105 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA348078635 rs1338536082 |
105 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA53520900 rs937666434 |
107 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1206999933 CA348078659 |
108 | G>S | No |
ClinGen gnomAD |
|
|
CA348078679 rs1265108436 |
110 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1265108436 CA348078681 |
110 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761549715 CA1826495 |
111 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1461784844 CA348078688 |
111 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs949640218 CA53520908 |
114 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1467696907 CA348078757 |
118 | L>F | No |
ClinGen TOPMed |
|
|
rs1244684508 CA348078761 |
118 | L>P | No |
ClinGen TOPMed |
|
|
CA348078765 rs1573941400 |
119 | P>A | No |
ClinGen Ensembl |
|
|
rs545662367 CA53520912 |
120 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA348078773 rs1156442379 |
120 | D>N | No |
ClinGen gnomAD |
|
|
CA348078784 rs1202881131 |
121 | A>S | No |
ClinGen TOPMed |
|
|
rs1573941443 CA348078792 |
121 | A>V | No |
ClinGen Ensembl |
|
|
rs1302241830 CA348078797 |
122 | A>V | No |
ClinGen gnomAD |
|
|
CA53520915 rs931502294 |
124 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866117321 CA53520923 |
125 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA53520944 rs565466035 |
127 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1273363454 CA348078849 |
128 | P>T | No |
ClinGen TOPMed |
|
|
rs749995009 CA1826497 |
129 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA348078868 rs1558938559 |
130 | Q>E | No |
ClinGen Ensembl |
|
|
rs1197419922 CA348078874 |
130 | Q>L | No |
ClinGen gnomAD |
|
|
CA348078888 rs1232608156 |
132 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 133 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53520966 rs997427261 |
138 | E>G | No |
ClinGen TOPMed |
|
|
rs966552685 CA53520973 |
140 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348078983 rs1179618994 |
141 | A>V | No |
ClinGen gnomAD |
|
|
CA348078985 rs1353054462 |
142 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1270565374 CA348078992 |
142 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53520978 rs754380805 |
143 | A>T | No |
ClinGen gnomAD |
|
|
rs1211680324 CA348079010 |
144 | H>Q | No |
ClinGen TOPMed |
|
|
rs1375360281 CA348079034 |
146 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348079031 rs1375360281 |
146 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA53520988 rs1001123865 |
147 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348079038 rs1276739274 |
147 | P>S | No |
ClinGen TOPMed |
|
|
rs1276739274 CA348079035 |
147 | P>T | No |
ClinGen TOPMed |
|
|
CA1826500 rs753201538 |
148 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032060335 CA53520993 |
150 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1346385038 CA348079071 |
151 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348079087 rs1299301138 |
152 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348079083 rs1299301138 |
152 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758834365 CA1826501 |
153 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1228833333 CA348079116 |
155 | K>N | No |
ClinGen gnomAD |
|
|
rs1356887048 CA348079129 |
156 | N>K | No |
ClinGen TOPMed |
|
|
rs959390194 CA53520997 |
157 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348079131 rs1274512109 |
157 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541747708 CA53521020 |
159 | R>C | No |
ClinGen 1000Genomes |
|
|
rs1156670119 CA348079158 |
160 | D>E | No |
ClinGen TOPMed |
|
|
CA348079151 rs1488604022 |
160 | D>H | No |
ClinGen gnomAD |
|
|
rs1488604022 CA348079152 |
160 | D>Y | No |
ClinGen gnomAD |
|
|
CA348079163 CA348079162 rs1190210774 |
161 | V>L | No |
ClinGen gnomAD |
|
|
rs1558938864 CA348079179 |
162 | Q>H | No |
ClinGen Ensembl |
|
|
rs778210168 CA1826502 |
163 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1187194667 CA348079192 |
164 | L>P | No |
ClinGen TOPMed |
|
|
rs1258100077 CA348079189 |
164 | L>V | No |
ClinGen TOPMed |
|
|
rs997067471 CA53521026 |
165 | P>L | No |
ClinGen Ensembl |
|
|
rs1235764698 CA348079205 |
166 | R>Q | No |
ClinGen TOPMed |
|
|
CA348079204 rs1389469606 |
166 | R>W | No |
ClinGen gnomAD |
|
|
CA348079214 rs1218042257 |
167 | T>S | No |
ClinGen TOPMed |
|
|
CA348079220 rs1427660641 |
168 | P>A | No |
ClinGen gnomAD |
|
|
CA53521029 rs1049886034 |
170 | P>S | No |
ClinGen Ensembl |
|
|
rs888615058 CA53521030 |
172 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA53521036 rs888615058 |
172 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 174 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751818398 CA348079291 |
175 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348079281 rs1364220945 |
175 | D>Y | No |
ClinGen gnomAD |
|
|
CA53521054 rs560564064 |
178 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1321443082 CA348079326 |
179 | P>R | No |
ClinGen gnomAD |
|
|
rs755494316 CA53521060 |
179 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA53521068 rs931470815 |
180 | P>L | No |
ClinGen TOPMed |
|
|
CA348079329 rs1220408281 |
180 | P>S | No |
ClinGen gnomAD |
|
|
CA1826504 rs528896573 |
181 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1208807716 CA348079341 |
181 | H>R | No |
ClinGen gnomAD |
|
|
rs781240636 CA1826505 |
182 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA348079357 rs1185293763 |
183 | C>R | No |
ClinGen gnomAD |
|
|
rs1430901464 CA348079360 |
183 | C>Y | No |
ClinGen TOPMed |
|
|
rs1422994756 CA348079375 |
184 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1156555261 CA348079374 |
184 | E>Q | No |
ClinGen TOPMed |
|
|
CA348079378 rs1422994756 |
184 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA53521079 rs911272347 |
186 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs942760547 CA53521080 |
188 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1188342225 CA348079430 |
188 | R>K | No |
ClinGen TOPMed |
|
|
rs1454431171 CA348079447 |
190 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749253340 CA1826509 |
190 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA53521089 rs1014286848 |
191 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA53521090 rs1014286848 |
191 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1014286848 CA348079464 |
191 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 192 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348079490 rs1220337887 |
194 | G>R | No |
ClinGen gnomAD |
|
|
CA53521103 rs902438697 |
195 | A>V | No |
ClinGen TOPMed |
|
|
CA348079507 rs1558939265 |
196 | T>A | No |
ClinGen Ensembl |
|
|
rs1024328577 CA53521107 |
197 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1310225407 CA348079520 |
197 | A>V | No |
ClinGen gnomAD |
|
|
CA348079524 rs1318362558 |
198 | Q>* | No |
ClinGen gnomAD |
|
|
CA53521108 rs970606829 |
198 | Q>R | No |
ClinGen Ensembl |
|
|
CA348079537 rs1208903780 |
199 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1463131384 CA348079549 |
200 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1463131384 CA348079548 |
200 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348079545 rs1394764936 |
200 | P>S | No |
ClinGen TOPMed |
|
|
rs1205529338 CA348079553 |
201 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs372917403 CA1826512 |
202 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1179896354 CA348079563 |
202 | R>H | No |
ClinGen gnomAD |
|
|
rs1179896354 CA348079562 |
202 | R>L | No |
ClinGen gnomAD |
|
|
rs1179896354 CA348079561 |
202 | R>P | No |
ClinGen gnomAD |
|
|
rs1409802189 CA348079569 |
203 | Q>P | No |
ClinGen gnomAD |
|
|
rs1473047625 CA348079578 |
204 | N>D | No |
ClinGen gnomAD |
|
|
rs1389592019 CA348079594 |
205 | L>R | No |
ClinGen TOPMed |
|
|
CA348079599 rs1409885210 |
206 | R>C | No |
ClinGen gnomAD |
|
|
rs1455702055 CA348079616 |
207 | D>E | No |
ClinGen TOPMed |
|
|
rs72938294 CA1826514 |
208 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359096546 CA348079636 |
210 | M>V | No |
ClinGen gnomAD |
|
|
CA348079671 rs1385151974 |
213 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348079679 rs1446381866 |
214 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348079695 rs1228662293 |
215 | Q>H | No |
ClinGen gnomAD |
|
|
rs1374451941 CA348079691 |
215 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1235865893 CA348079698 |
216 | L>V | No |
ClinGen TOPMed |
|
|
rs760247032 CA1826515 |
219 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53521125 rs945025767 |
220 | V>G | No |
ClinGen Ensembl |
|
|
CA53521120 rs972386342 |
220 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1826516 rs765876409 |
222 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs976358019 CA348079774 |
223 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs976358019 CA53521133 |
223 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA53521135 rs918811747 |
224 | G>A | No |
ClinGen TOPMed |
|
|
CA348079783 rs918811747 |
224 | G>V | No |
ClinGen TOPMed |
|
|
rs922278387 CA348079796 |
225 | S>R | No |
ClinGen gnomAD |
|
|
rs1573942728 CA348079791 |
225 | S>T | No |
ClinGen Ensembl |
|
|
rs1481500982 CA348079816 |
227 | P>L | No |
ClinGen gnomAD |
|
|
rs1481500982 CA348079818 |
227 | P>R | No |
ClinGen gnomAD |
|
|
CA1826518 rs550235452 |
227 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424479149 CA348079820 |
228 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1424479149 CA348079819 |
228 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764463858 CA1826519 |
230 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs568865663 CA53521174 |
232 | G>R | No |
ClinGen Ensembl |
|
|
rs1173117113 CA348079863 |
232 | G>V | No |
ClinGen gnomAD |
|
|
rs1371602589 CA348079884 |
235 | R>C | No |
ClinGen gnomAD |
|
|
CA348079886 rs1409578612 |
235 | R>H | No |
ClinGen gnomAD |
|
|
rs1307087175 CA348079906 |
237 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984429875 CA53521195 |
239 | G>R | No |
ClinGen TOPMed |
|
|
rs1348235837 CA348079933 |
240 | G>D | No |
ClinGen gnomAD |
|
|
CA348079928 rs1573942866 |
240 | G>S | No |
ClinGen Ensembl |
|
|
CA348079945 rs1573942907 |
241 | D>G | No |
ClinGen Ensembl |
|
|
rs941552335 CA53521199 |
242 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1274940783 CA348079968 |
243 | D>E | No |
ClinGen gnomAD |
|
|
rs757538355 CA1826521 |
244 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1217434048 CA348079980 |
244 | S>R | No |
ClinGen gnomAD |
|
|
CA348079987 rs1482980256 |
245 | A>P | No |
ClinGen TOPMed |
|
|
rs1274983843 CA348079991 |
245 | A>V | No |
ClinGen gnomAD |
|
|
rs781532844 CA348080005 |
247 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781532844 CA1826523 COSM3379732 |
247 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1037099028 CA53521246 |
249 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1037099028 CA348080025 |
249 | S>W | No |
ClinGen gnomAD |
|
|
rs750667381 CA1826524 |
250 | S>L | No |
ClinGen ExAC |
|
|
rs1041134271 CA53521251 |
251 | S>F | No |
ClinGen TOPMed |
|
|
rs1490906534 CA348080044 |
252 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs922702792 CA53521252 |
252 | A>V | No |
ClinGen TOPMed |
|
|
rs1199791321 CA348080062 |
254 | E>* | No |
ClinGen gnomAD |
|
|
rs1246234200 CA348080088 |
256 | S>G | No |
ClinGen gnomAD |
|
|
CA348080094 rs1477064192 |
256 | S>N | No |
ClinGen gnomAD |
|
|
rs756348585 CA1826525 |
257 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA348080101 rs1307374252 |
257 | S>N | No |
ClinGen TOPMed |
|
|
CA348080105 rs1409050201 |
257 | S>R | No |
ClinGen TOPMed |
|
|
CA348080114 rs1391310227 |
258 | G>D | No |
ClinGen gnomAD |
|
|
rs1167102306 CA348080129 |
260 | G>D | No |
ClinGen gnomAD |
|
|
rs749340780 CA1826527 |
261 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348080143 rs1323760498 |
262 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1330039337 CA348080155 |
263 | T>M | No |
ClinGen gnomAD |
|
|
CA348080164 rs1416676396 |
264 | L>P | No |
ClinGen TOPMed |
|
|
rs1295160281 CA348080181 |
266 | P>A | No |
ClinGen gnomAD |
|
|
rs778698103 CA1826529 |
266 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA348080180 rs1295160281 |
266 | P>S | No |
ClinGen gnomAD |
|
| rs1365852373 | 267 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826530 rs748037112 |
270 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365770882 CA348080238 |
271 | W>C | No |
ClinGen TOPMed |
|
|
CA348080242 rs1452203766 |
272 | M>L | No |
ClinGen gnomAD |
|
|
CA348080241 rs1452203766 |
272 | M>V | No |
ClinGen gnomAD |
|
|
rs1289403151 CA348080256 |
273 | L>F | No |
ClinGen gnomAD |
|
|
CA1826531 rs771762427 |
273 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348080262 rs771762427 |
273 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA348080272 rs1248649849 |
274 | S>F | No |
ClinGen gnomAD |
|
|
rs897218517 CA53521274 |
275 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1826533 rs553669223 |
277 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1190640968 CA348080315 |
279 | K>* | No |
ClinGen TOPMed |
|
|
CA348080328 rs1181682900 |
280 | W>* | No |
ClinGen Ensembl |
|
|
CA348080335 rs1163527290 |
280 | W>C | No |
ClinGen gnomAD |
|
|
rs1014363699 CA53521297 |
282 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348080353 rs202166335 |
282 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1826535 rs202166335 |
282 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1001186383 CA53521298 |
282 | S>R | No |
ClinGen TOPMed |
|
|
CA1826536 rs759012203 |
284 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348080385 rs1295274365 |
285 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs764711356 CA1826537 |
285 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826538 rs774707497 |
288 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA348080435 rs1464464676 |
291 | P>T | No |
ClinGen gnomAD |
|
|
CA348080448 rs1333522700 |
292 | G>A | No |
ClinGen TOPMed |
|
|
CA1826543 rs766678490 |
294 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1034047461 CA53521374 |
297 | R>Q | No |
ClinGen gnomAD |
|
|
rs778978686 CA1826546 |
297 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA348080507 rs1321511532 |
298 | D>E | No |
ClinGen TOPMed |
|
|
CA348080510 rs1457022314 |
299 | F>L | No |
ClinGen TOPMed |
|
|
CA1826548 rs758294989 |
300 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746762285 CA1826551 |
302 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348080551 rs1333279557 |
303 | F>L | No |
ClinGen gnomAD |
|
|
CA348080555 rs1558940307 |
303 | F>Y | No |
ClinGen Ensembl |
|
|
CA1826552 rs556515284 |
304 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1573943758 CA348080564 |
304 | T>P | No |
ClinGen Ensembl |
|
|
CA348080567 rs556515284 |
304 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576498830 CA53521410 |
305 | C>F | No |
ClinGen 1000Genomes |
|
|
rs758531405 CA53521416 |
307 | H>Q | No |
ClinGen TOPMed |
|
|
CA348080651 rs1258354166 |
312 | H>Y | No |
ClinGen gnomAD |
|
|
rs774997389 CA1826556 |
313 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1826558 rs200926093 |
314 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773751862 CA348080687 |
315 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773751862 CA1826559 |
315 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826560 rs559044575 |
316 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs559044575 CA1826561 |
316 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1573943909 CA348080701 |
317 | L>V | No |
ClinGen Ensembl |
|
|
CA53521461 rs976472395 |
319 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA53521460 rs966397614 |
319 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348080718 rs1573943990 |
320 | M>L | No |
ClinGen Ensembl |
|
|
CA348080739 rs1274741795 |
323 | N>D | No |
ClinGen TOPMed |
|
|
rs1399843295 CA348080751 |
324 | F>C | No |
ClinGen gnomAD |
|
|
CA348080759 rs1431373752 |
325 | A>G | No |
ClinGen gnomAD |
|
|
CA1826566 rs202114585 |
326 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1826568 rs111288759 |
329 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348080799 rs1328324823 |
331 | P>L | No |
ClinGen TOPMed |
|
|
CA1826569 rs542298770 |
331 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1826570 rs780889695 |
333 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs745510081 CA1826571 |
334 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985714732 CA348080824 CA53521487 |
335 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1826572 rs769429404 |
335 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 336 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779463478 CA1826573 |
336 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53521489 rs370855436 |
336 | A>V | No |
ClinGen ESP |
|
|
rs941638617 CA53521498 |
341 | G>V | No |
ClinGen gnomAD |
|
|
CA348080862 rs1223290753 |
342 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772755196 CA1826576 |
344 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1826578 rs761192789 |
347 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771429994 CA1826579 |
350 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs771429994 CA348080912 |
350 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1037172809 CA53521509 |
352 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1037172809 CA348080928 |
352 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1037172809 CA348080927 |
352 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1369667427 CA348080939 |
353 | H>Q | No |
ClinGen gnomAD |
|
|
rs1282315186 CA348080940 |
354 | V>M | No |
ClinGen gnomAD |
|
|
rs1573944317 CA348080959 |
356 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 358 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776999983 CA1826580 |
359 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1187392893 CA348080986 |
361 | V>A | No |
ClinGen TOPMed |
|
|
CA348080984 rs759696659 CA1826581 |
361 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs897337938 CA53521510 |
362 | G>R | No |
ClinGen Ensembl |
|
|
rs1447224211 CA348080998 |
363 | A>V | No |
ClinGen TOPMed |
|
|
CA348081004 rs1254556793 |
364 | Y>C | No |
ClinGen TOPMed |
|
|
rs1386271905 CA348081007 |
365 | D>N | No |
ClinGen gnomAD |
|
|
rs1299902817 CA348081019 |
366 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 366 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936044628 CA53521541 |
367 | D>E | No |
ClinGen TOPMed |
|
|
rs74868086 CA1826585 |
367 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297351107 CA348081031 |
368 | V>A | No |
ClinGen gnomAD |
|
|
CA53521551 rs1055034333 |
370 | I>V | No |
ClinGen Ensembl |
|
|
CA1826587 rs367595176 |
371 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1227844250 CA348081070 |
374 | S>G | No |
ClinGen TOPMed |
|
|
rs867409623 CA53521566 |
374 | S>N | No |
ClinGen Ensembl |
|
|
rs1242796049 CA348081075 |
374 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1208719856 CA348081084 |
376 | K>E | No |
ClinGen gnomAD |
|
|
rs1208719856 CA348081082 |
376 | K>Q | No |
ClinGen gnomAD |
|
|
CA348081097 rs1560884 |
377 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748808524 CA1826592 |
379 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1826594 rs551084442 CA1826595 |
380 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348081113 rs1426499324 |
380 | Q>R | No |
ClinGen gnomAD |
|
|
CA1826597 rs201439866 |
381 | Y>C | No |
ClinGen 1000Genomes ExAC |
|
|
CA1826596 rs201439866 |
381 | Y>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA348081124 rs1369267187 |
382 | L>P | No |
ClinGen gnomAD |
|
|
rs1457537561 CA348081129 |
383 | S>N | No |
ClinGen gnomAD |
|
|
rs1291874843 CA348081138 |
384 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 384 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826598 rs759912093 |
388 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769954927 CA1826599 |
389 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1238523004 CA348081174 |
390 | I>F | No |
ClinGen gnomAD |
|
|
CA348081177 rs1371726775 |
390 | I>N | No |
ClinGen TOPMed |
|
|
rs775764517 CA1826600 |
391 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA348081181 rs775764517 |
391 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1046219064 CA53521628 |
391 | K>R | No |
ClinGen TOPMed |
|
|
CA1826602 rs764163690 |
393 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348081213 rs1243536661 |
396 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348081211 rs1243536661 |
396 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 397 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 397 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826604 CA348081228 rs761759672 |
398 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1183743690 CA348081245 |
401 | D>N | No |
ClinGen TOPMed |
|
|
rs1484809655 CA348081248 |
401 | D>V | No |
ClinGen gnomAD |
|
|
rs1273919844 CA348081252 |
402 | G>R | No |
ClinGen TOPMed |
|
|
CA53521652 rs536663572 |
403 | E>Q | No |
ClinGen Ensembl |
|
|
CA1826608 rs527519216 |
404 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348081268 rs1405082224 |
404 | S>T | No |
ClinGen gnomAD |
|
|
rs997882431 CA53521675 |
407 | G>C | No |
ClinGen gnomAD |
|
|
rs181135941 CA1826612 |
407 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs997882431 CA53521678 |
407 | G>S | No |
ClinGen gnomAD |
|
|
rs181135941 CA1826611 |
407 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781705736 CA1826614 |
408 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA348081295 rs1344583212 |
409 | G>D | No |
ClinGen TOPMed |
|
|
rs1404965250 CA348081298 |
410 | G>S | No |
ClinGen gnomAD |
|
|
CA348081305 rs1468010086 |
411 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372552166 CA1826617 |
412 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1826616 rs372552166 |
412 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1005336 CA53521760 rs953717544 |
412 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs372552166 CA1826618 |
412 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348081314 rs1573945075 |
413 | W>G | No |
ClinGen Ensembl |
|
|
CA348081321 rs1573945086 |
414 | R>G | No |
ClinGen Ensembl |
|
|
CA53521762 rs888093736 |
414 | R>K | No |
ClinGen TOPMed |
|
|
CA348081340 rs1407425757 |
417 | K>* | No |
ClinGen TOPMed |
|
|
CA348081351 rs1573945128 |
418 | V>G | No |
ClinGen Ensembl |
|
|
rs985505458 CA53521767 |
418 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1176192772 CA348081357 |
419 | L>R | No |
ClinGen TOPMed |
|
|
rs1395135798 CA348081359 |
420 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1160085591 CA348081369 |
421 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1826621 rs761861548 |
422 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1330679276 CA348081390 |
425 | T>P | No |
ClinGen gnomAD |
|
|
CA1826622 rs372188816 |
426 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212091175 CA348081413 |
428 | L>F | No |
ClinGen gnomAD |
|
| rs776237005 | 429 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs963255914 CA53521793 |
430 | H>N | No |
ClinGen Ensembl |
|
|
rs760467029 CA348081431 |
431 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760467029 CA1826625 |
431 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1375573855 CA348081450 |
434 | D>N | No |
ClinGen gnomAD |
|
|
CA1826627 rs753641119 |
435 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826630 rs747196511 |
438 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826631 rs200515481 |
441 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1826632 rs752302736 |
442 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781613187 CA1826634 |
444 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1826633 rs757964739 |
444 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826636 rs139093622 |
445 | A>D | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 447 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409995535 CA348081538 |
447 | G>R | No |
ClinGen gnomAD |
|
|
rs1287185243 CA348081551 |
448 | W>C | No |
ClinGen gnomAD |
|
|
CA1826637 rs780488804 |
450 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1220913948 CA348081558 |
450 | G>R | No |
ClinGen gnomAD |
|
|
CA348081593 rs1423449505 |
455 | D>N | No |
ClinGen Ensembl |
|
|
CA1826640 rs570033664 |
458 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1826641 rs774543157 |
462 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479037821 CA348081652 |
464 | S>C | No |
ClinGen gnomAD |
|
|
CA1826642 rs376775773 |
465 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348081657 COSM3933291 rs1573945534 |
465 | S>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs147455127 CA53521878 |
467 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348081668 rs147455127 |
467 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348081670 rs1476112707 |
467 | R>H | No |
ClinGen TOPMed |
|
|
CA348081677 rs1170892840 |
468 | I>R | No |
ClinGen gnomAD |
|
|
CA1826643 rs76992194 |
468 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1826644 rs189662109 |
473 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1235918083 CA348081725 |
475 | I>T | No |
ClinGen TOPMed |
|
|
CA53521893 rs553369737 |
476 | R>G | No |
ClinGen Ensembl |
|
|
rs1473274263 CA348081730 |
476 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1327727836 CA348081739 |
477 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1826646 rs766190498 |
478 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826647 rs572554520 |
480 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348081770 rs1207294930 |
482 | V>A | No |
ClinGen TOPMed |
|
|
rs759378842 CA1826648 |
483 | H>P | No |
ClinGen ExAC |
|
|
CA1826651 rs368848145 |
486 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA53521901 rs991518487 |
486 | P>S | No |
ClinGen TOPMed |
|
|
CA348081807 rs1299214499 |
488 | F>L | No |
ClinGen TOPMed |
|
|
rs1342555594 CA348081809 |
489 | R>G | No |
ClinGen gnomAD |
|
|
rs1342555594 CA348081810 |
489 | R>W | No |
ClinGen gnomAD |
|
|
CA1826652 rs763672136 |
490 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826654 rs745666093 |
491 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1826656 rs142589827 |
494 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348081856 rs1391213061 |
496 | E>* | No |
ClinGen gnomAD |
|
|
rs755334105 CA1826658 |
497 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146665390 CA1826663 CA1826662 |
498 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1326714697 CA348081868 |
498 | R>W | No |
ClinGen gnomAD |
|
|
rs1411667394 CA348081872 |
499 | G>R | No |
ClinGen TOPMed |
|
|
CA348081891 rs1450312767 |
501 | E>D | No |
ClinGen TOPMed |
|
|
rs777944347 CA1826665 |
501 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348081903 rs1573945851 |
503 | V>G | No |
ClinGen Ensembl |
|
|
rs747032452 CA1826666 |
503 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348081904 rs1010774132 |
504 | G>R | No |
ClinGen TOPMed |
|
|
rs1010774132 CA53521966 |
504 | G>W | No |
ClinGen TOPMed |
|
|
rs768112213 CA1826668 |
507 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1005598640 CA53521985 |
508 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1343857959 CA348081942 |
510 | K>E | No |
ClinGen gnomAD |
|
|
CA348081951 rs1221422897 |
511 | G>D | No |
ClinGen TOPMed |
|
|
CA348081966 rs902342622 |
513 | S>L | No |
ClinGen gnomAD |
|
|
rs902342622 CA53521997 |
513 | S>W | No |
ClinGen gnomAD |
|
|
CA53522001 rs997995403 |
514 | P>S | No |
ClinGen Ensembl |
|
|
CA1826671 rs769713274 |
515 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1276084479 CA348081987 |
517 | L>* | No |
ClinGen TOPMed |
|
|
CA1826673 rs763614175 |
518 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225514116 CA348081995 |
518 | R>T | No |
ClinGen gnomAD |
|
|
rs766938529 CA1826676 |
519 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1826675 rs761216764 |
519 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA348082020 rs1163434608 |
522 | N>S | No |
ClinGen gnomAD |
|
|
rs1388273286 CA348082045 |
526 | G>Q | No |
ClinGen TOPMed |
No associated diseases with Q53LP3
1 regional properties for Q53LP3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 275 - 372 | IPR002110 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGPAEWGPE | AALGPEAVLR | FLAERGGRAL | HAELVQHFRG | ALGGEPEQRA | RARAHFKELV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NAVATVRVDP | ADGAKYVHLK | KRFCEGPSEP | SGDPPRIQVT | AEPEAPDGPA | GPEARDRLPD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AAAPESLPGQ | GRELGEGEPP | APAHWPPLSA | GARRKNSRRD | VQPLPRTPAP | GPSEDLELPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HGCEEADRGS | SLVGATAQRP | ARQNLRDLVM | GSSPQLKRSV | CPGGSSPGSS | SGGGRGRGGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DSDSASVASS | SAEEESSGGG | SVTLDPLEHA | WMLSASDGKW | DSLEGLLTCE | PGLLVKRDFI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TGFTCLHWAA | KHGRQELLAM | LVNFANKHQL | PVNIDARTSG | GYTALHLAAM | HGHVEVVKLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VGAYDADVDI | RDYSGKKASQ | YLSRSIAEEI | KNLVGALDEG | DGESAAGSGG | GRWRLSKVLP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SHLITYKLSH | ALEDGGDHHH | HHHSAEGWVG | GKAKDPGRKA | SGSSSGRIKP | RLNKIRFRTQ |
| 490 | 500 | 510 | 520 | ||
| IVHTTPSFRD | PEQPLEGRGE | EGVGEERPVK | GHSPFTLRPK | SNVFG |