O75366
PR
Gene name |
AVIL |
Protein name |
Advillin |
Names |
p92 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10677 |
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
2 structures for O75366
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UND | NMR | - | A | 784-819 | PDB |
| AF-O75366-F1 | Predicted | AlphaFoldDB |
712 variants for O75366
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000845157 CA6660189 rs138047529 VAR_083229 RCV000851544 |
135 | R>Q | Nephrotic syndrome, type 21 NPHS21; inhibited actin bundling capacity; slightly decreased interaction with PLCE1; disrupted EGF-induced diacylglycerol generation by PLCE1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000845155 VAR_083230 RCV000851543 COSM115795 rs763782471 CA6659882 |
425 | L>M | ovary Nephrotic syndrome, type 21 NPHS21; inhibited actin bundling capacity; decreases interaction with PLCE1; disrupted EGF-induced diacylglycerol generation by PLCE1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA385544369 rs1334894971 RCV000851546 RCV000845156 VAR_083231 |
446 | R>H | Variant assessed as Somatic; 0.0 impact. Nephrotic syndrome, type 21 NPHS21; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs753128516 RCV000851545 RCV000845158 |
656 | F>missing | Nephrotic syndrome, type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA237848389 rs912762939 |
2 | P>A | No |
ClinGen TOPMed |
|
|
CA6660346 rs769503456 |
2 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6660344 rs141201332 |
6 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6660343 rs148203782 |
9 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6660342 rs746498576 |
10 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA385562438 rs1462915004 |
11 | D>E | No |
ClinGen TOPMed |
|
|
rs372626065 CA237848382 |
13 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA237848383 rs372626065 |
13 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA385562395 rs1382559192 |
14 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757742898 CA6660340 |
14 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754323768 CA6660339 |
16 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756439576 CA6660337 |
17 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660338 rs764463017 |
17 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660335 rs767840765 |
18 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6660336 rs753181730 |
18 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237848373 rs1041764493 |
19 | W>* | No |
ClinGen TOPMed |
|
|
CA6660334 rs759890076 |
19 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385562296 rs1241712912 |
20 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6660332 rs3741426 |
21 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762902632 CA6660331 |
22 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs765060747 CA6660311 |
24 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs183869010 CA6660309 |
27 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs775010401 CA6660305 |
29 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385560943 rs1417618233 |
32 | S>G | Variant assessed as Somatic; 4.736e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA237847970 rs933525999 |
32 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs192714655 CA6660301 |
33 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192714655 CA6660300 |
33 | A>T | Variant assessed as Somatic; 4.739e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385560848 rs375869474 |
34 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781651756 CA6660299 |
35 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139026012 CA6660298 |
36 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6660297 rs752024048 |
37 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA237847961 rs961002308 |
38 | Y>H | No |
ClinGen TOPMed |
|
|
rs780121382 CA6660296 |
39 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758692688 CA6660295 |
40 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6660294 rs145155023 |
41 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385560625 rs1186991898 |
42 | C>R | No |
ClinGen TOPMed |
|
|
CA385560558 rs141365699 |
43 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753786374 CA6660290 |
44 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660291 rs368318770 |
44 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385560525 rs1407451446 |
45 | I>F | No |
ClinGen TOPMed |
|
|
rs1455445639 CA385560523 |
45 | I>T | No |
ClinGen TOPMed |
|
|
rs763810050 CA6660289 |
46 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM159301 rs539991474 CA6660288 |
47 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA237847953 rs1034050671 |
47 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385560224 rs1595175389 |
48 | T>P | No |
ClinGen Ensembl |
|
|
CA6660262 rs150020758 |
49 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536780133 CA237847759 |
49 | R>W | No |
ClinGen gnomAD |
|
|
rs887976641 CA237847754 |
50 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385560176 rs1219861594 |
50 | R>T | No |
ClinGen gnomAD |
|
|
rs1017934914 CA237847751 |
51 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385560107 rs1437995868 |
53 | S>C | No |
ClinGen TOPMed |
|
|
rs1595175325 CA385560101 |
53 | S>N | No |
ClinGen Ensembl |
|
|
rs1266437055 CA385560070 |
54 | L>F | No |
ClinGen gnomAD |
|
|
CA385560081 rs1266437055 |
54 | L>I | No |
ClinGen gnomAD |
|
|
CA385560022 rs762535538 |
56 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762535538 CA6660260 |
56 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237847748 rs1000374331 |
57 | Q>* | No |
ClinGen Ensembl |
|
|
rs115907101 CA237847746 |
60 | H>P | No |
ClinGen 1000Genomes |
|
|
rs769252664 CA385559899 CA6660258 |
60 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575233945 CA237847743 |
62 | W>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6660257 rs557033135 |
63 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772498164 CA6660255 |
64 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746010287 CA6660254 |
66 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1344579283 CA385559589 |
68 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs779102356 CA6660253 |
71 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA237847736 rs995641684 |
72 | Q>* | No |
ClinGen TOPMed |
|
|
rs1161338885 CA385559391 |
73 | S>N | No |
ClinGen gnomAD |
|
|
rs749348398 CA6660251 |
75 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151262214 CA6660250 |
77 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237847730 rs142283697 |
78 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs368739145 CA6660248 |
78 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs755966879 CA6660246 |
81 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052383784 CA237847726 |
81 | Q>R | No |
ClinGen TOPMed |
|
|
rs752704688 CA6660245 |
82 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA385558991 rs1406920479 |
84 | D>E | No |
ClinGen gnomAD |
|
|
rs1227377819 CA385558996 |
84 | D>G | No |
ClinGen TOPMed |
|
|
CA6660243 rs535644422 |
84 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751471028 CA6660242 |
85 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA385558974 rs1287235505 |
85 | Y>C | No |
ClinGen TOPMed |
|
|
rs766103854 CA6660241 |
86 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs764823413 CA6660238 |
87 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385558892 rs1457735609 |
88 | G>D | No |
ClinGen gnomAD |
|
|
CA385558913 rs1322407696 |
88 | G>S | No |
ClinGen gnomAD |
|
|
rs761028517 CA6660237 |
90 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374562032 CA237847714 |
91 | V>E | No |
ClinGen ESP TOPMed |
|
|
rs776067218 CA6660236 |
91 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA385558758 rs1372022726 |
94 | R>* | No |
ClinGen gnomAD |
|
|
CA6660235 rs147227701 |
94 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6660234 rs376165688 |
98 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385558658 rs1387875794 |
99 | H>R | No |
ClinGen TOPMed |
|
|
rs1165316727 CA385558663 |
99 | H>Y | No |
ClinGen TOPMed |
|
|
CA237847706 rs942138631 |
100 | E>K | No |
ClinGen TOPMed |
|
|
CA6660232 rs574987078 |
102 | D>N | No |
ClinGen 1000Genomes ExAC |
|
|
CA6660229 rs200470660 |
105 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534984118 CA6660228 |
105 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145283937 CA6660227 |
111 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565838098 CA385557516 |
112 | I>T | No |
ClinGen Ensembl |
|
|
CA6660226 rs373277184 |
113 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 114 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372003738 CA385556253 |
115 | K>T | No |
ClinGen gnomAD |
|
|
rs1023192830 CA237847230 |
116 | Q>* | No |
ClinGen TOPMed |
|
|
CA237847226 rs77192073 |
116 | Q>R | No |
ClinGen Ensembl |
|
|
CA6660204 rs779935171 |
117 | G>R | No |
ClinGen ExAC |
|
|
CA6660203 rs779935171 |
117 | G>W | No |
ClinGen ExAC |
|
|
rs750309496 CA6660201 |
118 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750309496 CA385556206 |
118 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1398116982 TCGA novel CA385556193 |
118 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA385556185 rs1595172741 |
119 | V>F | No |
ClinGen Ensembl |
|
|
rs778614635 CA6660199 |
119 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs139710395 CA6660198 COSM1363451 |
120 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA385555976 rs1311547348 |
126 | V>G | No |
ClinGen TOPMed |
|
|
rs372949086 CA237847215 |
126 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA385555962 rs1354764995 |
127 | E>G | No |
ClinGen TOPMed |
|
|
CA385555949 rs1484115217 |
128 | T>A | No |
ClinGen gnomAD |
|
|
CA237847212 rs993236373 |
129 | N>D | No |
ClinGen Ensembl |
|
|
rs1358399501 CA385555908 |
130 | T>I | No |
ClinGen gnomAD |
|
|
CA6660194 rs766666618 |
131 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM942254 rs529665441 CA6660192 |
132 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs369062569 CA385555859 |
133 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369062569 CA6660191 |
133 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770023170 CA6660190 |
135 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA385555809 rs1595172619 |
137 | L>V | No |
ClinGen Ensembl |
|
|
rs1364030560 CA385555797 |
138 | H>Y | No |
ClinGen gnomAD |
|
|
CA6660187 rs768868360 |
139 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776721367 CA6660188 |
139 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376649962 CA6660185 |
147 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756883725 CA6660183 |
149 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753462507 CA6660180 |
149 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6660182 rs756883725 |
149 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756883725 CA6660181 |
149 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660164 rs745814743 |
151 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385555441 rs1202479076 |
152 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774154424 CA237847173 |
154 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660162 rs774154424 |
154 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770634259 CA6660161 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149286296 CA6660160 |
156 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6660159 rs777388720 |
156 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs1433411021 CA385555313 |
157 | F>V | No |
ClinGen TOPMed |
|
|
rs1200099484 CA385555247 |
158 | N>K | No |
ClinGen TOPMed |
|
|
rs150762636 CA6660158 |
159 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385555162 rs1295862158 |
160 | G>D | No |
ClinGen gnomAD |
|
|
rs918902055 CA237847169 |
161 | D>N | No |
ClinGen TOPMed |
|
|
CA237847165 rs138499913 |
162 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6660156 rs201778799 |
162 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6660155 rs758867063 |
165 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6660153 rs765582319 |
167 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565836688 CA385554942 |
168 | G>A | No |
ClinGen Ensembl |
|
|
CA385554918 rs1186431338 |
169 | K>* | No |
ClinGen gnomAD |
|
|
CA6660152 rs757550621 |
172 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA6660151 rs754296973 |
174 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA385554608 rs1481960971 |
176 | G>D | No |
ClinGen gnomAD |
|
|
CA6660149 rs761027327 |
178 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1272107999 CA385554424 |
181 | S>T | No |
ClinGen gnomAD |
|
|
CA6660146 rs186113671 |
182 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6660145 rs774167069 |
184 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6660144 rs61938187 |
184 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6660143 rs749029342 |
186 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA385553955 rs1162445462 COSM3772700 |
188 | M>I | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 188 | M>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385553935 rs1347636685 |
189 | L>V | No |
ClinGen TOPMed |
|
|
CA385553818 rs1208430008 |
191 | A>S | No |
ClinGen TOPMed |
|
|
rs769585334 CA6660122 |
194 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA237847082 rs928428642 |
194 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs977264026 CA237847079 |
195 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201086934 CA6660121 |
195 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765294489 CA237847077 |
196 | D>E | No |
ClinGen Ensembl |
|
|
rs1441553632 CA385553563 |
197 | R>G | No |
ClinGen TOPMed |
|
|
rs776255387 CA6660120 |
198 | E>* | No |
ClinGen ExAC |
|
|
rs138728046 CA6660119 |
199 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6660118 rs137873044 |
199 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779664128 CA6660117 |
200 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660116 rs771294162 |
201 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA237847071 rs990551401 |
202 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA237847069 rs201937160 |
202 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA237847066 rs763934639 |
203 | A>T | No |
ClinGen Ensembl |
|
|
CA385553276 rs2172521 |
204 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_054974 CA6660113 rs2172521 |
204 | K>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2172521 CA385553284 |
204 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6660112 rs374173803 |
206 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs961721518 CA237847063 |
206 | G>R | No |
ClinGen TOPMed |
|
|
CA385553195 rs1321899981 |
207 | V>M | No |
ClinGen gnomAD |
|
|
CA385553153 rs781263584 |
208 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660110 rs377132987 |
209 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217899540 CA385553115 |
210 | G>E | No |
ClinGen TOPMed |
|
|
CA6660109 rs766498172 |
211 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6660108 rs766498172 |
211 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1595171627 CA385553083 |
211 | D>V | No |
ClinGen Ensembl |
|
|
rs762736936 CA6660107 |
212 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750378255 CA6660106 |
213 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6660105 rs765219676 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs4382952 CA237847054 |
215 | A>P | No |
ClinGen Ensembl |
|
|
CA237847052 rs1009088495 COSM942253 |
215 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs776452797 CA6660103 |
216 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385552942 rs1196366512 |
217 | P>S | No |
ClinGen gnomAD |
|
|
CA6660102 rs768173126 |
220 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385552867 rs768173126 |
220 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660101 rs760398723 |
223 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385552730 rs1595171558 |
226 | T>P | No |
ClinGen Ensembl |
|
|
rs774822420 CA6660100 |
228 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778408969 CA6660097 COSM1245856 |
229 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200643423 CA6660095 COSM318874 |
229 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6660096 rs200643423 |
229 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201578292 CA6660093 |
230 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200603028 CA6660092 COSM3739817 |
230 | R>H | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1301738495 CA385552665 |
231 | S>A | No |
ClinGen gnomAD |
|
|
rs1465724103 CA385552652 |
232 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 234 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434173596 CA385552565 |
236 | T>A | No |
ClinGen gnomAD |
|
|
rs893607319 CA237847037 |
237 | V>A | No |
ClinGen Ensembl |
|
|
rs565329514 CA237847034 |
238 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1322514926 CA385552359 |
241 | I>T | No |
ClinGen gnomAD |
|
|
rs750570334 CA6660089 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs553704153 CA6660088 |
244 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6660087 rs757236595 |
245 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906555815 CA237847026 |
246 | Q>H | No |
ClinGen gnomAD |
|
|
rs760178754 COSM238919 CA6660084 |
248 | S>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6660085 rs763981844 |
248 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759111866 CA6660081 |
250 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6660082 rs112269561 |
250 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385552006 rs1219402619 |
251 | M>I | No |
ClinGen TOPMed |
|
|
rs774041432 CA6660080 |
252 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA385551969 rs1289224667 |
253 | Y>C | No |
ClinGen TOPMed |
|
|
CA6660079 rs369781732 |
254 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776816832 CA6660078 |
254 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776816832 CA6660077 |
254 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369781732 CA385551946 |
254 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385551756 rs1340598848 |
258 | S>A | No |
ClinGen gnomAD |
|
|
CA385551715 rs1390019127 |
260 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1372721932 CA385551645 |
263 | A>V | No |
ClinGen gnomAD |
|
|
CA6660050 rs778898091 |
264 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385551550 rs1412229009 |
267 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771011672 CA6660049 |
267 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1479185688 CA385551494 |
269 | T>I | No |
ClinGen TOPMed |
|
|
rs749386081 CA6660047 |
272 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6660046 rs777759639 |
273 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660045 rs756044582 |
274 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180204597 CA385551288 |
276 | L>F | No |
ClinGen gnomAD |
|
|
rs1464171599 CA385551315 |
276 | L>V | No |
ClinGen TOPMed |
|
|
CA385551225 rs1595170856 |
279 | H>Y | No |
ClinGen Ensembl |
|
|
CA385551187 rs1595170843 |
280 | D>V | No |
ClinGen Ensembl |
|
|
CA6660037 rs762524032 |
282 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181241902 CA6660035 |
283 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237846915 rs749943277 |
283 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660036 rs749943277 |
283 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237846914 rs931698505 |
284 | I>V | No |
ClinGen TOPMed |
|
|
rs74337651 CA237846912 |
285 | L>M | No |
ClinGen Ensembl |
|
|
CA237846910 rs539920578 |
285 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA237846909 rs539920578 |
285 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs921590427 CA237846908 |
286 | D>N | No |
ClinGen Ensembl |
|
|
rs761110434 CA6660034 |
289 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385550817 rs1387928688 |
289 | G>R | No |
ClinGen gnomAD |
|
|
CA237846904 rs111995483 |
290 | T>A | No |
ClinGen Ensembl |
|
|
CA385550751 rs1457438894 |
290 | T>S | No |
ClinGen TOPMed |
|
|
rs576169396 CA6660032 |
292 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385550630 rs774542955 |
294 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660030 rs774542955 |
294 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223585880 CA385550589 |
295 | W>* | No |
ClinGen gnomAD |
|
|
rs749354972 CA385550534 |
297 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6660027 rs777763000 |
297 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs749354972 CA6660028 |
297 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330670226 CA385550519 |
298 | K>E | No |
ClinGen gnomAD |
|
|
CA237846897 rs748062721 |
298 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143765749 COSM1289815 CA6660024 |
299 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6660020 rs779824760 |
300 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189640914 CA385550450 |
300 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs189640914 CA6660021 |
300 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1266885619 CA385550382 |
302 | K>N | No |
ClinGen TOPMed |
|
|
CA237846891 rs963309781 |
305 | K>E | No |
ClinGen TOPMed |
|
|
CA237846889 rs977937165 |
306 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6660019 rs758038852 |
307 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756862973 CA6660017 |
309 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148973636 CA6660016 |
312 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA385550048 rs1196507377 |
313 | L>P | No |
ClinGen TOPMed |
|
|
CA237846622 rs145769257 |
314 | G>S | No |
ClinGen ESP |
|
|
CA385548313 rs1180771705 |
314 | G>V | No |
ClinGen gnomAD |
|
|
CA385548246 rs1238821249 |
317 | K>N | No |
ClinGen gnomAD |
|
|
rs1595169275 CA385548218 |
318 | M>I | No |
ClinGen Ensembl |
|
|
CA6660000 rs745514129 |
319 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385548137 rs1272935390 |
321 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs147969047 RCV000895918 CA6659999 |
322 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1361311415 CA385548094 |
323 | S>N | No |
ClinGen gnomAD |
|
|
CA385548091 rs1308584540 |
323 | S>R | No |
ClinGen gnomAD |
|
|
rs1312688471 CA385548056 |
324 | S>N | No |
ClinGen gnomAD |
|
|
CA385548027 rs756710589 |
325 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6659998 rs756710589 |
325 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs374677661 CA6659996 |
327 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA385547969 rs1313671522 |
327 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1335257631 CA385547932 |
328 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1409452494 CA385547905 |
329 | T>I | No |
ClinGen gnomAD |
|
|
rs529351135 CA6659993 |
330 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1659530 rs751870860 CA6659994 |
330 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6659992 rs763163889 |
331 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6659991 rs142357058 |
331 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147666040 CA6659989 |
332 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385547834 rs147666040 |
332 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188138920 CA385547810 |
333 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1595169134 CA385547730 |
335 | E>D | No |
ClinGen Ensembl |
|
|
rs957429143 CA237846609 |
335 | E>G | No |
ClinGen Ensembl |
|
|
CA237846607 rs922509093 |
336 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1361790164 CA385547661 |
337 | A>V | No |
ClinGen TOPMed |
|
|
rs750538192 CA6659987 |
338 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750538192 CA385547637 |
338 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659988 rs145316510 |
338 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385547524 rs1400901297 |
342 | L>P | No |
ClinGen TOPMed |
|
|
CA6659986 rs746975718 |
343 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385547506 rs746975718 |
343 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659985 rs775288458 |
344 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs771778777 CA6659984 |
345 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385547432 rs1294003425 |
345 | K>T | No |
ClinGen gnomAD |
|
|
CA6659980 rs767440618 |
350 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659981 rs139775381 |
350 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385547224 rs1413131988 |
352 | T>S | No |
ClinGen gnomAD |
|
|
rs202107956 CA6659979 |
353 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 354 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777286693 CA6659978 |
355 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs542383315 CA6659976 |
356 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6659977 rs542383315 |
356 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385547158 rs1472016124 |
356 | G>R | No |
ClinGen gnomAD |
|
|
rs1183567287 CA385547066 |
358 | T>M | No |
ClinGen gnomAD |
|
|
rs370369375 CA237846593 |
360 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs553609562 CA6659974 |
361 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385546969 rs1489748865 |
363 | K>E | No |
ClinGen gnomAD |
|
| rs544964496 | 364 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274424768 CA385546907 |
364 | I>T | No |
ClinGen gnomAD |
|
|
CA6659951 rs764470851 |
366 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362323031 CA385546587 |
368 | F>I | No |
ClinGen gnomAD |
|
|
CA237846560 rs933921221 |
368 | F>S | No |
ClinGen Ensembl |
|
|
rs1198272664 CA385546542 |
369 | Q>* | No |
ClinGen TOPMed |
|
|
rs1415887265 CA385546533 |
369 | Q>R | No |
ClinGen gnomAD |
|
|
rs1401622826 CA385546507 |
370 | D>E | No |
ClinGen Ensembl |
|
|
CA6659950 rs760834592 |
372 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385546440 rs1481517738 |
373 | D>Y | No |
ClinGen TOPMed |
|
|
rs752861727 CA385546403 |
374 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752861727 CA6659949 |
374 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385546382 rs1472158183 |
375 | T>I | No |
ClinGen gnomAD |
|
|
CA6659947 rs759540577 |
377 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436914905 CA385546343 |
378 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1436914905 CA385546338 |
378 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1396097609 CA385546317 |
379 | T>A | No |
ClinGen gnomAD |
|
|
CA6659946 rs773976956 |
379 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770713416 CA6659945 |
380 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659944 rs762530697 |
381 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6659943 rs772835870 |
382 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769500437 CA6659942 |
385 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA385546151 rs1167926861 |
386 | Q>R | No |
ClinGen TOPMed |
|
|
CA6659940 rs374961870 |
391 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403672229 CA385546063 |
392 | D>G | No |
ClinGen TOPMed |
|
|
CA385546061 rs1403672229 |
392 | D>V | No |
ClinGen TOPMed |
|
|
CA6659938 rs372446764 |
393 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6659936 rs779363553 |
395 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659934 rs754322600 |
398 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456618850 CA385545447 |
400 | W>* | No |
ClinGen gnomAD |
|
|
rs150785031 CA6659895 |
400 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385545452 rs1156437861 |
400 | W>R | No |
ClinGen Ensembl |
|
|
COSM942252 CA6659894 rs372232621 |
402 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142175736 CA6659893 |
404 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237846353 rs918047048 |
406 | E>G | No |
ClinGen TOPMed |
|
|
CA6659892 rs374565452 |
408 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755193548 CA6659891 |
410 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659889 rs143969105 |
414 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175362702 CA385545126 |
415 | Y>C | No |
ClinGen gnomAD |
|
|
rs1346902098 CA385545114 |
416 | G>A | No |
ClinGen TOPMed |
|
|
CA385545098 rs1208718426 |
417 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6659887 rs750378435 |
419 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1337052448 CA385545057 |
419 | Y>N | No |
ClinGen TOPMed |
|
|
rs1209027562 CA385545003 |
420 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1209027562 CA385545006 |
420 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 421 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385544959 rs1595167670 |
422 | D>G | No |
ClinGen Ensembl |
|
|
rs760423898 CA6659881 |
426 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6659880 rs752213058 |
427 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752213058 CA385544848 |
427 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659879 rs767139403 |
428 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1362777141 CA385544795 |
430 | Y>C | No |
ClinGen gnomAD |
|
|
rs142455344 CA6659877 |
431 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1595167582 CA385544706 |
433 | N>K | No |
ClinGen Ensembl |
|
|
CA385544640 rs1317020505 |
436 | P>R | No |
ClinGen TOPMed |
|
|
rs762203271 CA6659875 |
437 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385544569 rs1168269017 |
441 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385544546 rs1165971294 |
442 | I>S | No |
ClinGen TOPMed |
|
|
CA385544540 rs1165971294 |
442 | I>T | No |
ClinGen TOPMed |
|
|
rs867776080 CA237846309 |
442 | I>V | No |
ClinGen Ensembl |
|
|
rs1419620840 CA385544521 |
443 | W>L | No |
ClinGen gnomAD |
|
|
rs747239856 CA6659872 |
444 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1595167347 CA385544382 |
445 | G>A | No |
ClinGen Ensembl |
|
|
CA6659853 rs370382463 |
446 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6659850 rs146185696 |
448 | A>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325193336 CA385544230 |
450 | Q>H | No |
ClinGen gnomAD |
|
|
CA385544246 rs1348686565 |
450 | Q>R | No |
ClinGen TOPMed |
|
|
rs1438015230 CA385544224 |
451 | D>H | No |
ClinGen gnomAD |
|
|
rs749185038 CA6659849 |
452 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1396070469 CA385544208 |
452 | E>K | No |
ClinGen gnomAD |
|
|
CA6659847 rs755959349 |
453 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA385544164 rs1161694744 |
453 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA237846237 rs755959349 |
453 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461051245 CA385544117 |
456 | S>L | No |
ClinGen TOPMed |
|
|
rs1181932479 CA385544105 |
457 | A>S | No |
ClinGen TOPMed |
|
|
rs1447072514 CA385544097 |
457 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1595167233 CA385544060 |
459 | Q>R | No |
ClinGen Ensembl |
|
|
CA385544004 rs1424151368 |
461 | V>L | No |
ClinGen TOPMed |
|
|
CA237846234 rs982415498 |
462 | E>G | No |
ClinGen Ensembl |
|
|
CA6659846 rs199978727 |
463 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237846229 rs201474598 |
464 | D>H | No |
ClinGen gnomAD |
|
|
rs988265427 CA237846226 |
464 | D>V | No |
ClinGen TOPMed |
|
|
rs780957772 CA6659845 |
465 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1206193673 COSM1289814 CA385543907 |
465 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs751028707 CA6659843 |
470 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1348800400 CA385543802 |
471 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140328274 CA237846210 |
472 | V>L | No |
ClinGen 1000Genomes |
|
|
rs754291220 CA6659840 |
475 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs760997094 CA6659839 |
475 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760997094 COSM549511 CA6659838 |
475 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6659837 rs775882643 |
476 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775882643 CA385543685 |
476 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659836 rs200323336 |
479 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385543626 rs1372468300 |
479 | G>R | No |
ClinGen gnomAD |
|
|
CA6659834 rs374415947 |
480 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6659835 rs374415947 |
480 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA237846191 rs756091361 |
481 | E>K | No |
ClinGen Ensembl |
|
|
CA385543512 rs1306998596 |
482 | P>R | No |
ClinGen TOPMed |
|
|
rs935429814 CA237846188 |
482 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6659831 rs141483208 |
483 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1363449 CA6659830 rs769888107 |
483 | R>H | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1268879205 CA385543489 |
484 | H>D | No |
ClinGen TOPMed |
|
|
rs1322846212 CA385543431 |
486 | M>L | No |
ClinGen TOPMed |
|
|
CA385543424 rs1172256195 |
486 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 487 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6659829 rs747925843 |
488 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754635084 CA6659828 |
490 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754635084 CA6659827 |
490 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385543259 CA385543257 rs1192518888 |
491 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385543190 rs1176396035 |
493 | L>P | No |
ClinGen TOPMed |
|
|
CA385543146 rs1205974140 |
495 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 496 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369339549 CA6659824 |
496 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279356695 CA385543100 |
497 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs372000272 CA6659801 |
498 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771540578 CA237842611 |
498 | G>V | No |
ClinGen Ensembl |
|
|
CA385541801 rs1565833288 |
499 | G>R | No |
ClinGen Ensembl |
|
|
rs755293608 CA6659799 |
501 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755293608 CA6659800 |
501 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659798 rs552650655 |
502 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237842603 rs983632064 |
504 | G>A | No |
ClinGen TOPMed |
|
|
rs983632064 CA385541730 |
504 | G>E | No |
ClinGen TOPMed |
|
|
CA6659796 rs367900033 |
507 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385541683 rs1595166016 |
508 | P>H | No |
ClinGen Ensembl |
|
|
rs750487437 CA6659795 |
508 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1595166010 CA385541672 |
509 | D>A | No |
ClinGen Ensembl |
|
|
rs1386819789 CA385541679 |
509 | D>N | No |
ClinGen TOPMed |
|
|
CA385541633 rs1324330750 |
512 | V>A | No |
ClinGen TOPMed |
|
|
CA385541638 rs1180896713 |
512 | V>I | No |
ClinGen gnomAD |
|
|
rs1275083938 CA385541625 |
513 | R>T | No |
ClinGen gnomAD |
|
|
CA385541603 rs1565833205 |
515 | F>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 517 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385541554 rs1039261270 |
518 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA385541514 rs1234751471 |
521 | D>G | No |
ClinGen gnomAD |
|
|
CA6659792 rs776706732 |
521 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 521 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1363448 rs768679508 CA6659791 |
522 | K>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6659790 COSM2156252 rs760369242 |
523 | S>Y | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775382103 CA6659789 |
524 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330173504 CA385541441 |
527 | A>T | No |
ClinGen gnomAD |
|
|
CA6659787 rs745526301 |
528 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 529 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392383272 CA385541421 |
529 | E>K | No |
ClinGen gnomAD |
|
|
rs778333984 CA6659786 |
530 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462153638 CA385541392 |
531 | P>L | No |
ClinGen gnomAD |
|
|
CA6659785 rs770410961 |
532 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6659784 rs748861123 |
533 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs781638853 CA6659783 |
534 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA237842550 rs761448851 |
537 | L>P | No |
ClinGen Ensembl |
|
|
CA385541347 rs1228149290 |
539 | S>Y | No |
ClinGen gnomAD |
|
|
CA237842544 rs755557542 |
540 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595165826 CA385541340 |
540 | N>S | No |
ClinGen Ensembl |
|
|
rs201497225 CA6659781 |
541 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237842528 rs1047851 |
544 | L>M | No |
ClinGen Ensembl |
|
|
rs1185387963 CA385541314 |
544 | L>P | No |
ClinGen TOPMed |
|
|
rs1451814961 CA385541310 |
545 | L>P | No |
ClinGen gnomAD |
|
|
CA6659778 rs367636607 |
545 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6659777 rs761954969 |
546 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385541306 rs549145073 |
546 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549145073 CA6659775 COSM942247 |
546 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1307065559 CA385541258 |
553 | L>P | No |
ClinGen gnomAD |
|
|
rs760701700 CA6659773 |
554 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs779905314 CA237842491 |
557 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385540369 rs1000011333 |
558 | G>E | No |
ClinGen TOPMed |
|
|
rs1000011333 CA237841182 |
558 | G>V | No |
ClinGen TOPMed |
|
|
CA6659728 rs201965436 |
561 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6659729 rs201965436 |
561 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764839409 CA6659726 |
563 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6659724 rs199694346 |
564 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6659723 rs532025713 |
564 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6659725 rs199694346 |
564 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237841157 rs558373624 |
566 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6659722 rs760129329 |
567 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385540126 rs1357539937 |
568 | K>Q | No |
ClinGen TOPMed |
|
|
rs774802127 CA6659721 |
568 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385540080 rs1231715675 |
569 | E>D | No |
ClinGen gnomAD |
|
|
CA6659719 rs141539881 |
569 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 571 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385540006 rs1048616159 |
572 | S>N | No |
ClinGen gnomAD |
|
|
rs1048616159 CA237841136 |
572 | S>T | No |
ClinGen gnomAD |
|
|
CA237841133 rs1010242251 |
575 | C>W | No |
ClinGen TOPMed |
|
|
rs1231700758 CA385539919 |
576 | D>E | No |
ClinGen gnomAD |
|
|
CA6659717 rs769954950 |
576 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385539890 rs1314604442 |
577 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV001280666 CA6659716 rs748204951 |
577 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs543015033 CA385539860 |
578 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6659713 rs751510335 |
579 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750235131 CA6659711 |
580 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1595160828 CA385539746 |
582 | V>G | No |
ClinGen Ensembl |
|
|
CA6659709 rs143313987 |
584 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385539646 rs1369907895 |
585 | G>S | No |
ClinGen gnomAD |
|
|
rs761403076 CA6659708 |
586 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA385539585 rs1595160775 |
586 | Q>R | No |
ClinGen Ensembl |
|
|
CA237841064 rs142606117 |
587 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866208745 CA237841071 |
587 | E>G | No |
ClinGen Ensembl |
|
|
rs753326143 CA6659707 |
587 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659703 rs372334329 |
590 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1458222933 CA385539409 |
592 | W>R | No |
ClinGen gnomAD |
|
|
rs1364624649 CA385539325 |
596 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs962109443 CA237841045 |
597 | G>A | No |
ClinGen Ensembl |
|
|
CA385539208 rs1346976714 |
601 | Y>C | No |
ClinGen TOPMed |
|
|
CA6659698 rs200519392 |
601 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6659696 rs747157972 |
603 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs368249513 CA6659697 |
603 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779946781 CA6659694 |
604 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6659680 rs201495811 |
608 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 611 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768916239 CA6659679 |
612 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs771979546 CA6659676 |
613 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs775578084 CA6659678 |
613 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775578084 CA6659677 |
613 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867943476 CA237840905 |
615 | Q>* | No |
ClinGen Ensembl |
|
|
CA385538757 rs1172347120 |
615 | Q>R | No |
ClinGen gnomAD |
|
|
rs147036496 CA6659674 |
617 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757001015 CA6659673 |
617 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs757001015 CA385538687 |
617 | R>P | No |
ClinGen ExAC TOPMed |
|
|
rs749137539 CA6659671 |
619 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1195548670 CA385538564 |
622 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1195548670 CA385538566 |
622 | S>P | No |
ClinGen gnomAD |
|
|
CA6659670 rs778889853 |
623 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778889853 CA6659669 |
623 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659668 rs141510587 |
625 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs766937793 CA6659667 |
626 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659666 rs758880730 |
628 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385538429 rs1433837297 |
629 | V>A | No |
ClinGen TOPMed |
|
|
CA6659664 rs765836504 |
629 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6659665 rs765836504 |
629 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1324297599 CA385538310 |
635 | D>G | No |
ClinGen gnomAD |
|
|
rs1046436310 CA237840859 |
635 | D>N | No |
ClinGen Ensembl |
|
|
rs1400949099 CA385538288 |
637 | T>P | No |
ClinGen gnomAD |
|
|
rs1355226914 CA385538274 |
638 | Q>* | No |
ClinGen gnomAD |
|
|
rs1398287854 CA385538239 |
640 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1012399728 CA385538254 |
640 | D>N | No |
ClinGen gnomAD |
|
|
rs1012399728 CA237840856 |
640 | D>Y | No |
ClinGen gnomAD |
|
|
CA6659663 rs762132263 |
643 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 646 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460576474 CA385538157 COSM272380 |
646 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs760892601 CA6659660 |
647 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs772035997 CA6659658 |
651 | T>I | No |
ClinGen ExAC |
|
|
CA385538081 rs1327328563 |
652 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA237840837 rs1048665076 |
653 | D>N | No |
ClinGen TOPMed |
|
|
rs932527653 CA237840440 |
658 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780676160 CA6659631 |
658 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385536346 rs780676160 |
658 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237840435 rs143252193 |
659 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6659630 rs143252193 |
659 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77734196 CA237840429 |
660 | G>R | No |
ClinGen TOPMed |
|
|
CA6659629 rs746464019 |
660 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs77734196 CA237840425 |
660 | G>W | No |
ClinGen TOPMed |
|
|
rs1478149720 CA385536281 |
662 | E>* | No |
ClinGen gnomAD |
|
|
CA6659626 rs754331044 |
665 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs567856044 CA6659625 |
666 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139933127 CA6659622 |
667 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139933127 CA6659623 |
667 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6659620 rs751523483 |
668 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766576247 CA6659619 |
669 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs374532704 CA6659616 |
670 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397868743 CA385536148 |
670 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs374532704 CA237840389 |
670 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6659614 rs761488858 |
671 | A>D | No |
ClinGen ExAC |
|
|
rs548015584 CA6659615 |
671 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1298673427 CA385536128 |
672 | L>P | No |
ClinGen gnomAD |
|
|
CA237840373 rs570610115 |
673 | A>P | No |
ClinGen Ensembl |
|
|
rs1346216380 CA385536105 |
674 | T>I | No |
ClinGen gnomAD |
|
|
CA6659613 rs776522628 |
675 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6659612 rs768128283 |
679 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1595158167 CA385536015 |
682 | H>P | No |
ClinGen Ensembl |
|
|
CA385535990 rs1418302797 |
684 | S>G | No |
ClinGen gnomAD |
|
|
rs200254571 CA6659609 |
685 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6659608 rs183442787 |
686 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778233552 CA6659607 |
686 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385535945 rs1239767782 |
687 | D>G | No |
ClinGen gnomAD |
|
|
rs756640098 CA6659606 |
687 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748418298 CA6659605 |
689 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995870961 CA237840346 |
691 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385535886 rs1220714666 |
692 | I>V | No |
ClinGen gnomAD |
|
|
rs1318943100 CA385535864 |
693 | L>P | No |
ClinGen gnomAD |
|
|
CA237840333 rs765991155 |
694 | I>V | No |
ClinGen Ensembl |
|
|
CA6659603 rs755093577 |
695 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 697 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751789371 CA6659602 |
698 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs766772582 CA6659601 |
699 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385535766 rs1200835746 |
700 | E>A | No |
ClinGen TOPMed |
|
|
CA6659600 rs758519324 |
701 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 706 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208169324 CA385535638 |
707 | W>G | No |
ClinGen TOPMed |
|
|
CA385535629 rs1452536726 |
707 | W>S | No |
ClinGen Ensembl |
|
|
CA385535610 rs1423944225 |
708 | F>V | No |
ClinGen gnomAD |
|
|
CA385535545 rs1422462826 |
711 | W>G | No |
ClinGen gnomAD |
|
|
CA237840315 rs1053986032 |
712 | D>A | No |
ClinGen TOPMed |
|
|
rs1053986032 CA385535516 |
712 | D>G | No |
ClinGen TOPMed |
|
|
rs761815260 CA6659597 |
712 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385535502 rs1182960243 |
713 | P>S | No |
ClinGen gnomAD |
|
|
CA237840312 COSM35680 rs376214386 |
716 | W>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
CA385535440 rs1421296764 |
716 | W>G | No |
ClinGen TOPMed |
|
|
rs1052713053 CA237840308 |
717 | S>N | No |
ClinGen TOPMed |
|
|
CA6659576 rs763981066 |
718 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270253096 CA385535277 |
719 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 719 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352865512 CA385535251 |
721 | T>A | No |
ClinGen gnomAD |
|
|
CA237839834 rs1051215847 |
722 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 724 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385535158 rs1384706810 |
727 | E>G | No |
ClinGen gnomAD |
|
|
CA6659573 rs775289990 |
727 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237839827 rs925417745 |
728 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 728 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385535122 rs1273508289 |
729 | L>P | No |
ClinGen TOPMed |
|
|
CA385535116 rs1326107379 |
730 | G>R | No |
ClinGen TOPMed |
|
|
rs759190171 CA385535084 |
732 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759190171 CA6659570 |
732 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373369692 CA6659568 |
733 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 733 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6659566 rs555506555 |
735 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748812864 CA6659567 |
735 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1268375438 CA385535036 |
736 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769090713 CA237839811 |
736 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs769090713 CA6659565 |
736 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs780595972 CA6659563 |
737 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6659562 rs61740317 |
737 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659561 rs61740317 |
737 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464262396 CA385534798 |
741 | D>N | No |
ClinGen gnomAD |
|
|
CA237839326 CA385534737 rs55746514 |
743 | K>N | No |
ClinGen TOPMed |
|
|
rs1392562049 CA385534694 |
746 | T>A | No |
ClinGen TOPMed |
|
|
rs771083612 CA6659540 |
746 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659541 rs771083612 |
746 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659539 rs79289432 |
747 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA237839318 rs758861059 |
749 | L>R | No |
ClinGen gnomAD |
|
|
CA6659538 rs777723908 |
754 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA385534539 rs1243211827 |
754 | S>I | No |
ClinGen gnomAD |
|
|
rs1197503190 CA385534507 |
756 | P>T | No |
ClinGen gnomAD |
|
|
rs1259333790 CA385534489 |
757 | K>E | No |
ClinGen gnomAD |
|
|
CA6659537 rs144854882 |
758 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 758 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385534424 rs1482519668 |
759 | Y>C | No |
ClinGen gnomAD |
|
|
CA385534381 rs1196704592 |
761 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753367784 CA237839284 |
762 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753367784 CA385534365 |
762 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1282884884 CA385534337 |
764 | L>P | No |
ClinGen gnomAD |
|
|
rs1356095644 CA385534344 |
764 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs867918748 CA237839260 |
768 | Q>H | No |
ClinGen Ensembl |
|
|
rs1565827996 CA385534260 |
768 | Q>K | No |
ClinGen Ensembl |
|
|
CA237839254 rs376279230 |
770 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1444717313 CA385534181 |
771 | E>D | No |
ClinGen gnomAD |
|
|
CA385534158 rs1402667326 |
773 | P>T | No |
ClinGen gnomAD |
|
|
CA6659533 rs766006295 |
774 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762545181 CA6659531 |
775 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA237839216 rs1041792851 |
777 | N>H | No |
ClinGen Ensembl |
|
|
CA6659529 rs202198298 |
777 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749880933 CA6659530 |
777 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA385534047 rs1459350300 |
778 | P>A | No |
ClinGen gnomAD |
|
|
rs532189662 CA6659528 |
779 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385534007 rs1289828949 |
780 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1437308713 CA385533979 |
781 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1437308713 CA385533981 |
781 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1270762689 CA385533958 |
782 | E>G | No |
ClinGen TOPMed |
|
|
CA6659510 rs765024600 |
783 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1477476501 CA385533890 |
784 | Y>H | No |
ClinGen gnomAD |
|
|
CA385533873 rs1201399588 |
785 | L>F | No |
ClinGen gnomAD |
|
|
CA385533852 rs985174336 |
787 | E>K | No |
ClinGen gnomAD |
|
|
rs985174336 CA237838328 |
787 | E>Q | No |
ClinGen gnomAD |
|
|
rs953827530 CA385533791 CA237838323 |
791 | V>L | No |
ClinGen gnomAD |
|
|
rs1356548816 CA385533767 |
793 | V>M | No |
ClinGen gnomAD |
|
|
rs897946842 CA237838319 |
794 | F>S | No |
ClinGen TOPMed |
|
|
rs753424500 CA6659507 |
798 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6659506 rs200509466 |
801 | F>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA237838296 rs865984760 |
802 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1406467456 CA385533631 |
803 | A>V | No |
ClinGen gnomAD |
|
|
rs1224224107 CA385533611 |
805 | P>L | No |
ClinGen TOPMed |
|
|
rs1297413358 CA385533595 |
807 | W>* | No |
ClinGen gnomAD |
|
|
CA385533587 rs1398067533 |
808 | K>Q | No |
ClinGen gnomAD |
|
|
CA6659503 rs752736115 |
812 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178534299 CA385533476 |
815 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766636343 CA6659502 |
815 | E>K | No |
ClinGen ExAC |
|
|
CA385533453 rs1413437292 |
816 | K>M | No |
ClinGen gnomAD |
|
|
CA237838277 rs765241227 |
816 | K>N | No |
ClinGen gnomAD |
|
|
rs1318385350 CA385533464 |
816 | K>Q | No |
ClinGen gnomAD |
|
|
CA385533454 rs1413437292 |
816 | K>R | No |
ClinGen gnomAD |
|
|
rs201808188 CA6659501 |
817 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
1 associated diseases with O75366
[MIM: 618594]: Nephrotic syndrome 21 (NPHS21)
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations. {ECO:0000269|PubMed:29058690}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations. {ECO:0000269|PubMed:29058690}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for O75366
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Villin headpiece | 753 - 819 | IPR003128 |
| domain | Gelsolin-like domain | 26 - 105 | IPR007123-1 |
| domain | Gelsolin-like domain | 144 - 215 | IPR007123-2 |
| domain | Gelsolin-like domain | 265 - 339 | IPR007123-3 |
| domain | Gelsolin-like domain | 407 - 486 | IPR007123-4 |
| domain | Gelsolin-like domain | 524 - 592 | IPR007123-5 |
| domain | Gelsolin-like domain | 629 - 704 | IPR007123-6 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| Arp2/3 complex binding | Binding to an Arp2/3 complex, a protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5). |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| actin filament severing | The process in which an actin filament is broken down into smaller filaments. |
| actin polymerization or depolymerization | Assembly or disassembly of actin filaments by the addition or removal of actin monomers from a filament. |
| barbed-end actin filament capping | The binding of a protein or protein complex to the barbed (or plus) end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| positive regulation of lamellipodium assembly | Any process that increases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| regulation of diacylglycerol biosynthetic process | Any process that modulates the frequency, rate or extent of diacylglycerol biosynthetic process. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SX14 | GSN | Gelsolin | Bos taurus (Bovine) | PR |
| Q24020 | fliI | Protein flightless-1 | Drosophila melanogaster (Fruit fly) | PR |
| P06396 | GSN | Gelsolin | Homo sapiens (Human) | PR |
| P13020 | Gsn | Gelsolin | Mus musculus (Mouse) | PR |
| Q68FP1 | Gsn | Gelsolin | Rattus norvegicus (Rat) | PR |
| O65570 | VLN4 | Villin-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLTSAFRAV | DNDPGIIVWR | IEKMELALVP | VSAHGNFYEG | DCYVILSTRR | VASLLSQDIH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FWIGKDSSQD | EQSCAAIYTT | QLDDYLGGSP | VQHREVQYHE | SDTFRGYFKQ | GIIYKQGGVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGMKHVETNT | YDVKRLLHVK | GKRNIRATEV | EMSWDSFNRG | DVFLLDLGKV | IIQWNGPESN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGERLKAMLL | AKDIRDRERG | GRAKIGVIEG | DKEAASPELM | KVLQDTLGRR | SIIKPTVPDE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IIDQKQKSTI | MLYHISDSAG | QLAVTEVATR | PLVQDLLNHD | DCYILDQSGT | KIYVWKGKGA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TKAEKQAAMS | KALGFIKMKS | YPSSTNVETV | NDGAESAMFK | QLFQKWSVKD | QTMGLGKTFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IGKIAKVFQD | KFDVTLLHTK | PEVAAQERMV | DDGNGKVEVW | RIENLELVPV | EYQWYGFFYG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GDCYLVLYTY | EVNGKPHHIL | YIWQGRHASQ | DELAASAYQA | VEVDRQFDGA | AVQVRVRMGT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EPRHFMAIFK | GKLVIFEGGT | SRKGNAEPDP | PVRLFQIHGN | DKSNTKAVEV | PAFASSLNSN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DVFLLRTQAE | HYLWYGKGSS | GDERAMAKEL | ASLLCDGSEN | TVAEGQEPAE | FWDLLGGKTP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YANDKRLQQE | ILDVQSRLFE | CSNKTGQFVV | TEITDFTQDD | LNPTDVMLLD | TWDQVFLWIG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AEANATEKES | ALATAQQYLH | THPSGRDPDT | PILIIKQGFE | PPIFTGWFLA | WDPNIWSAGK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TYEQLKEELG | DAAAIMRITA | DMKNATLSLN | SNDSEPKYYP | IAVLLKNQNQ | ELPEDVNPAK |
| 790 | 800 | 810 | |||
| KENYLSEQDF | VSVFGITRGQ | FAALPGWKQL | QMKKEKGLF |