Q9Y4F1
SS
Gene name |
FARP1 (CDEP, PLEKHC2) |
Protein name |
FERM, ARHGEF and pleckstrin domain-containing protein 1 |
Names |
Chondrocyte-derived ezrin-like protein, FERM, RhoGEF and pleckstrin domain-containing protein 1, Pleckstrin homology domain-containing family C member 2, PH domain-containing family C member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10160 |
EC number |
|
Protein Class |
|
Descriptions
FARP1 is a guanine nucleotide exchange factor for RAC1. FARP1 contains a FERM domain, a Dbl-homology (DH) domain and two pleckstrin homology (PH) domains. In a structural study with mouse Farp2 (Q91VS8), the GEF substrate-binding site is blocked collectively by the last helix (Helix α6) in the DH domain and the two PH domains.
Autoinhibitory domains (AIDs)
Target domain |
540-730 (DH domain) |
Relief mechanism |
PTM |
Assay |
|
Target domain |
540-730 (DH domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9Y4F1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4H6Y | X-ray | 409 A | A/B | 539-1035 | PDB |
| AF-Q9Y4F1-F1 | Predicted | AlphaFoldDB |
871 variants for Q9Y4F1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1186809639 CA388565820 |
4 | I>V | No |
ClinGen TOPMed |
|
|
rs776690367 CA7025630 |
5 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025631 rs369946560 |
7 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7025632 rs9300466 VAR_048362 |
8 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7025634 rs142082777 |
9 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1031559782 CA255253876 |
10 | P>S | No |
ClinGen TOPMed |
|
|
rs763762166 CA7025635 |
12 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7025636 rs375123537 |
13 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780718364 CA388565976 |
15 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780718364 CA7025638 |
15 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756737689 CA7025637 |
15 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs755563449 CA7025640 |
16 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7025639 rs182979508 |
16 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202150265 CA7025641 |
17 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353882595 CA388566012 |
18 | E>G | No |
ClinGen TOPMed |
|
|
rs758725627 CA7025643 |
20 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249333837 CA388566040 |
20 | S>T | No |
ClinGen gnomAD |
|
|
CA7025644 rs758725627 |
20 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025646 rs771105203 |
21 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025648 rs745787307 |
22 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025649 rs369851754 |
23 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430573241 CA388566096 |
23 | S>R | No |
ClinGen gnomAD |
|
|
rs1474031234 CA388566088 |
23 | S>T | No |
ClinGen TOPMed |
|
|
rs914396996 CA255253978 |
24 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7025650 rs557954348 |
27 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146667664 CA388566156 |
27 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388566159 rs146667664 |
27 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146667664 CA7025651 |
27 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7025652 rs763841974 |
28 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388566175 rs1394388882 |
29 | Q>* | No |
ClinGen gnomAD |
|
|
COSM3399476 CA7025654 COSM3399475 rs113972742 |
31 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7025656 rs540612612 |
32 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1323331861 CA388566229 |
33 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7025657 rs755580477 |
34 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467041963 CA388566241 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs1295493627 CA388566255 |
38 | K>E | No |
ClinGen TOPMed |
|
|
rs1249937376 CA388566265 |
39 | L>F | No |
ClinGen gnomAD |
|
|
rs778325187 CA7025661 |
40 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025663 rs747231234 |
41 | S>F | No |
ClinGen ExAC |
|
|
CA7025662 rs747231234 |
41 | S>Y | No |
ClinGen ExAC |
|
|
rs781579023 CA7025664 |
42 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs781579023 CA388566307 |
42 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7025665 rs529475478 |
45 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388566380 rs1417790631 |
46 | M>V | No |
ClinGen gnomAD |
|
|
rs775476105 CA7025667 |
51 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1435930077 CA388566487 |
52 | E>Q | No |
ClinGen gnomAD |
|
|
CA7025669 rs768491609 |
53 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1324706001 CA388566501 |
53 | A>T | No |
ClinGen TOPMed |
|
|
CA388566537 rs1380878061 |
55 | E>K | No |
ClinGen gnomAD |
|
|
CA388569598 rs1416515206 |
59 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7025760 rs148906137 |
61 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759911558 CA7025761 |
63 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7025762 rs765377032 |
64 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764285227 CA7025765 |
71 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs199662757 CA7025767 |
74 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750174816 CA7025769 |
75 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA255271930 rs997545462 |
76 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA388569733 rs1333524632 |
80 | Y>C | No |
ClinGen gnomAD |
|
|
rs1346632786 CA388569757 |
84 | E>K | No |
ClinGen gnomAD |
|
|
rs138316269 CA7025772 |
86 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754411923 CA7025773 |
87 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388569786 rs1566900392 |
88 | H>D | No |
ClinGen Ensembl |
|
|
rs1182918305 CA388569794 |
89 | K>E | No |
ClinGen TOPMed |
|
|
rs111648694 CA7025774 |
89 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1446936534 CA388569810 |
91 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747461832 CA7025775 |
92 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594449339 CA388568880 |
96 | D>G | No |
ClinGen Ensembl |
|
|
CA7025798 rs188276647 |
102 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770114460 CA7025799 |
104 | Q>R | No |
ClinGen ExAC |
|
|
CA7025830 rs747102282 |
110 | H>Y | No |
ClinGen ExAC |
|
|
rs377656768 CA7025832 |
111 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388569428 rs1486895831 |
112 | V>I | No |
ClinGen gnomAD |
|
|
CA388569434 rs1257449376 |
113 | V>I | No |
ClinGen gnomAD |
|
|
rs1352250371 CA388569446 |
114 | K>N | No |
ClinGen TOPMed |
|
|
CA388569482 rs1330832700 |
119 | F>L | No |
ClinGen TOPMed |
|
|
rs759328021 CA7025833 |
121 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7025836 rs370830451 |
122 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763748342 CA7025837 |
125 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751002543 CA7025839 |
128 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM199072 CA255252584 rs757781772 |
133 | R>M | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs143801985 CA255258618 |
136 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7025868 rs751879729 |
137 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757329640 CA7025869 |
137 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745806966 CA7025871 |
140 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1217394779 CA388570307 |
144 | L>M | No |
ClinGen gnomAD |
|
|
rs1206960715 CA388570324 |
146 | Q>R | No |
ClinGen TOPMed |
|
|
rs779996143 CA7025873 |
148 | R>K | No |
ClinGen ExAC |
|
|
CA7025874 rs749032986 |
150 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773957578 CA7025876 |
154 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7025877 rs761516475 |
155 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281620783 CA388570392 |
156 | A>G | No |
ClinGen TOPMed |
|
|
CA7025879 rs200784439 |
156 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388570391 rs1281620783 |
156 | A>V | No |
ClinGen TOPMed |
|
|
rs765624407 CA7025881 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA255258695 rs796369940 |
158 | L>F | No |
ClinGen TOPMed |
|
|
rs962740469 CA255258730 |
159 | L>F | No |
ClinGen TOPMed |
|
|
rs200467768 CA255258733 |
163 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA388570451 rs1164223525 |
166 | S>P | No |
ClinGen gnomAD |
|
|
CA7025907 rs756116528 |
168 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766509126 CA7025908 |
169 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388570487 rs1198705201 |
170 | D>N | No |
ClinGen gnomAD |
|
|
rs368494915 CA7025910 |
174 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753757999 CA7025909 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368494915 CA7025911 |
174 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747859940 CA7025912 |
177 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195912260 CA388570568 |
177 | R>S | No |
ClinGen TOPMed |
|
|
CA388570577 rs1175941197 |
178 | E>D | No |
ClinGen gnomAD |
|
|
CA255264670 rs758237923 |
178 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025913 rs758237923 |
178 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025914 rs777272936 |
181 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs777272936 CA388570605 |
181 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7025916 rs770561440 |
183 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255264678 rs199842855 |
184 | K>Q | No |
ClinGen Ensembl |
|
|
CA388570646 rs1197644655 |
184 | K>T | No |
ClinGen TOPMed |
|
|
rs750565094 CA255264680 |
186 | I>V | No |
ClinGen Ensembl |
|
|
CA388570679 rs1327520622 |
187 | P>T | No |
ClinGen gnomAD |
|
|
CA388570696 rs1374229946 |
188 | Q>R | No |
ClinGen gnomAD |
|
|
rs774942512 CA7025921 |
191 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774942512 CA7025920 |
191 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025922 rs767964188 |
191 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025924 rs376561024 |
193 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7025925 rs766598994 |
194 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs753845733 CA7025926 |
195 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA7025928 rs78636977 |
197 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA255264713 rs2274059 |
201 | H>R | No |
ClinGen TOPMed |
|
|
CA255264717 rs879167154 |
202 | N>D | No |
ClinGen Ensembl |
|
|
CA388570877 rs1174325213 |
203 | H>L | No |
ClinGen gnomAD |
|
|
rs1172954532 CA388570874 |
203 | H>Y | No |
ClinGen TOPMed |
|
|
rs559245419 CA388570887 |
204 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559245419 CA7025931 |
204 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7025932 rs559245419 |
204 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7025930 rs184642774 |
204 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388571044 rs1566941328 |
212 | D>V | No |
ClinGen Ensembl |
|
|
CA7025949 rs201544902 |
214 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388571115 rs1172220254 |
218 | I>S | No |
ClinGen TOPMed |
|
|
CA255265043 rs866308613 |
219 | A>V | No |
ClinGen Ensembl |
|
|
CA7025950 rs757138817 |
220 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025951 rs780967752 |
220 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA388571134 rs780967752 |
220 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs755676759 CA7025953 |
221 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750137639 CA7025952 |
221 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA388571211 rs1431617845 |
227 | I>T | No |
ClinGen TOPMed |
|
|
rs1261664807 CA388571219 |
228 | R>Q | No |
ClinGen gnomAD |
|
|
CA7025955 rs748761560 |
228 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866651563 CA255265051 |
229 | L>F | No |
ClinGen gnomAD |
|
|
rs866651563 CA388571232 |
229 | L>F | No |
ClinGen gnomAD |
|
|
CA388571223 rs1261622769 |
229 | L>M | No |
ClinGen TOPMed |
|
|
CA7025956 rs199776431 |
230 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150061718 CA7025958 |
231 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388571286 rs1418881662 |
234 | D>G | No |
ClinGen gnomAD |
|
|
CA7025960 rs776803922 |
236 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA255265065 rs755412631 |
238 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1415269137 CA388571340 |
239 | K>R | No |
ClinGen gnomAD |
|
|
rs1325226012 CA388571364 |
241 | N>D | No |
ClinGen TOPMed |
|
|
CA7025962 rs769754091 |
243 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762950098 CA7025964 |
244 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388571412 rs1566941517 |
245 | A>G | No |
ClinGen Ensembl |
|
|
rs548718971 CA7025966 |
247 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388571459 rs1486846885 |
249 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1212275007 CA388571462 |
250 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1339674072 CA388571471 |
251 | V>L | No |
ClinGen TOPMed |
|
|
rs766006216 CA7025991 |
254 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs753484838 CA7025992 |
255 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7025993 rs146232402 |
256 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7025994 rs764795386 |
257 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs377370143 CA7025995 |
257 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200747595 CA7025996 |
259 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388572261 rs1366139831 |
260 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs989676175 CA255265943 |
260 | A>T | No |
ClinGen TOPMed |
|
|
rs781669558 CA7025997 |
262 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316825534 CA388572318 |
265 | K>E | No |
ClinGen gnomAD |
|
|
rs1295470484 CA388572322 |
265 | K>T | No |
ClinGen TOPMed |
|
|
rs756459895 CA7025999 |
266 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs201836486 CA7026001 |
267 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780290213 CA7026000 |
267 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs916769341 CA255265954 |
269 | L>V | No |
ClinGen TOPMed |
|
|
rs768765160 CA7026003 |
271 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774510175 CA7026004 |
272 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7026005 rs748243026 |
275 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772094490 COSM949122 CA7026006 |
275 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1273867574 CA388572461 |
278 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1198622341 CA388572470 |
279 | K>E | No |
ClinGen TOPMed |
|
|
rs531760099 CA7026007 |
280 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026009 rs760933598 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1677761 CA7026008 rs202040460 |
281 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA255265973 rs928372356 |
282 | P>L | No |
ClinGen TOPMed |
|
|
rs938351955 CA255265976 |
283 | D>V | No |
ClinGen TOPMed |
|
|
rs776344276 CA7026010 |
285 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047471343 CA255265983 |
285 | N>S | No |
ClinGen TOPMed |
|
|
rs200051893 CA7026041 |
287 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs940004767 CA255266563 |
289 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA388572704 rs1351316712 |
291 | T>I | No |
ClinGen gnomAD |
|
|
CA388572749 rs1256523267 |
295 | L>Q | No |
ClinGen gnomAD |
|
|
CA7026045 rs550023920 |
296 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1447035365 CA388572753 |
296 | M>V | No |
ClinGen TOPMed |
|
|
CA7026046 rs769628377 |
297 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311365373 CA388572780 |
298 | S>T | No |
ClinGen TOPMed |
|
|
CA7026047 rs547596686 |
299 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs193003957 CA7026050 |
305 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388572960 rs1594479011 |
313 | H>R | No |
ClinGen Ensembl |
|
|
CA7026054 rs766746943 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7026056 rs759947424 |
321 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1465684621 CA388573086 |
324 | P>S | No |
ClinGen gnomAD |
|
|
CA255266603 rs750880253 |
325 | K>R | No |
ClinGen Ensembl |
|
|
rs752956846 CA388573109 |
326 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026058 rs752956846 |
326 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374117100 CA388573130 |
328 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388573128 rs1374117100 |
328 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199844182 CA7026061 |
329 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026060 rs764383338 |
329 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745849055 CA7026064 |
333 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7026063 rs368479972 |
333 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7026066 rs779764921 COSM1706944 |
338 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7026068 rs768150374 |
339 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750458259 CA7026100 |
341 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760762271 CA7026101 |
342 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388573791 rs1292055562 |
342 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA388573798 rs1296229872 |
343 | T>P | No |
ClinGen gnomAD |
|
|
CA7026104 rs775624327 |
349 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1330335017 CA388573867 |
349 | D>N | No |
ClinGen TOPMed |
|
|
CA388573884 rs1243099171 |
350 | Y>C | No |
ClinGen gnomAD |
|
|
CA7026106 rs752450514 |
352 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA7026107 rs547864277 |
353 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026108 rs777600418 |
354 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746470662 CA7026109 |
356 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770618605 CA7026110 |
360 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7026111 rs780679948 |
361 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA388574181 rs1333636345 |
365 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1333636345 CA388574185 |
365 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA388574204 rs1469527288 |
366 | S>T | No |
ClinGen gnomAD |
|
|
rs1311316402 CA388574215 |
367 | K>R | No |
ClinGen TOPMed |
|
|
CA255268417 rs933464705 |
369 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388574272 rs369996528 |
372 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026136 rs369996528 |
372 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA255268418 rs753311596 |
372 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1278527250 CA388574287 |
373 | S>R | No |
ClinGen gnomAD |
|
|
rs760803742 CA255268435 |
375 | A>V | No |
ClinGen Ensembl |
|
|
CA7026138 rs747289046 |
376 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs771154702 CA7026139 |
377 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1466883367 CA388574325 |
377 | Q>R | No |
ClinGen Ensembl |
|
|
CA388574331 rs1258309890 |
378 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7026140 COSM949124 rs376390860 |
383 | S>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7026143 rs775339891 |
384 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764049827 CA7026146 |
385 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026145 rs764049827 |
385 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388574409 rs762781389 |
385 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs762781389 CA7026144 |
385 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1403760303 CA388574811 COSM1677765 |
389 | S>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs749386779 CA7026180 |
392 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7026181 rs768662086 |
394 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7026182 rs774475228 |
396 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761667009 CA7026183 |
396 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA388574859 rs761667009 |
396 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs772905326 CA388574864 |
397 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs772905326 CA7026185 |
397 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs202146129 CA7026187 |
398 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374346994 CA255269395 |
400 | G>A | No |
ClinGen TOPMed |
|
|
rs374346994 CA388574882 |
400 | G>D | No |
ClinGen TOPMed |
|
|
CA255269390 rs369956498 |
400 | G>R | No |
ClinGen Ensembl |
|
|
rs374346994 CA255269403 |
400 | G>V | No |
ClinGen TOPMed |
|
|
CA388574888 COSM199077 rs1285223201 |
401 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA255269414 rs374386089 |
405 | G>R | No |
ClinGen gnomAD |
|
|
rs374386089 CA388574909 |
405 | G>R | No |
ClinGen gnomAD |
|
|
CA388574914 rs1414442201 |
406 | G>R | No |
ClinGen TOPMed |
|
|
rs1414442201 CA388574916 |
406 | G>S | No |
ClinGen TOPMed |
|
|
CA7026190 rs759069538 |
409 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA388574938 rs1241460880 |
409 | C>Y | No |
ClinGen gnomAD |
|
|
rs752102184 CA7026192 |
410 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA388574945 rs752102184 |
410 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201312864 CA7026193 |
411 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7026195 rs373255291 |
413 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs756227037 CA7026196 |
417 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749352073 CA7026199 |
419 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749352073 CA7026198 |
419 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778987134 CA7026200 |
419 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs541677119 CA255269444 |
420 | G>R | No |
ClinGen gnomAD |
|
|
CA388575000 rs541677119 |
420 | G>R | No |
ClinGen gnomAD |
|
|
rs541677119 CA388575001 |
420 | G>W | No |
ClinGen gnomAD |
|
|
rs1345823988 CA388575009 |
421 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA388575013 rs772057395 |
422 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772815989 CA7026203 |
422 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772815989 CA388575015 |
422 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026202 rs772057395 |
422 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388575017 rs1459223678 |
423 | G>R | No |
ClinGen gnomAD |
|
|
CA7026204 rs760549744 |
426 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1479825155 CA388575050 |
428 | P>S | No |
ClinGen gnomAD |
|
|
rs764795561 CA7026208 |
429 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA388575065 rs1160164794 |
430 | P>R | No |
ClinGen TOPMed |
|
|
CA388575069 rs1200603843 |
431 | R>K | No |
ClinGen Ensembl |
|
|
rs750717737 CA7026212 |
433 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780387697 CA7026214 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7026213 rs756547318 |
434 | P>S | No |
ClinGen ExAC |
|
|
CA7026216 rs755092202 |
435 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026217 rs779077193 |
435 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA255269487 rs561855491 |
436 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388575098 rs561855491 |
436 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758227141 CA7026219 |
436 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388575096 rs758227141 |
436 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026220 rs561855491 |
436 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388575101 rs1479872820 |
437 | N>D | No |
ClinGen gnomAD |
|
|
rs1310956673 CA388575103 |
437 | N>S | No |
ClinGen gnomAD |
|
|
rs1248967686 CA388575109 |
438 | K>* | No |
ClinGen TOPMed |
|
|
CA388575123 rs1211938566 |
440 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7026222 rs149057508 |
440 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026224 rs745581191 |
441 | D>A | No |
ClinGen ExAC |
|
|
rs1233316961 CA388575134 |
441 | D>E | No |
ClinGen TOPMed |
|
|
CA7026225 rs769453534 |
442 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026226 rs774917492 |
444 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477859562 CA388575150 |
444 | A>V | No |
ClinGen gnomAD |
|
|
rs762560578 CA7026227 |
445 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365677540 CA388575156 |
446 | A>T | No |
ClinGen TOPMed |
|
|
CA388575161 rs1459276741 |
446 | A>V | No |
ClinGen gnomAD |
|
|
rs773805804 CA7026229 |
448 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026230 rs760940361 |
448 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs760940361 CA388575170 |
448 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1594485553 CA388575185 |
450 | E>G | No |
ClinGen Ensembl |
|
|
CA255269532 rs867755090 |
453 | E>A | No |
ClinGen Ensembl |
|
|
rs1382795559 CA388575204 |
453 | E>K | No |
ClinGen gnomAD |
|
|
CA255269549 rs199693167 |
454 | V>D | No |
ClinGen Ensembl |
|
|
CA388575215 rs199693167 |
454 | V>G | No |
ClinGen Ensembl |
|
|
rs142094149 CA7026233 |
455 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA255269579 rs908711159 |
456 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1594485599 CA388575238 |
458 | R>K | No |
ClinGen Ensembl |
|
|
CA388575241 rs1209395120 |
458 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388575306 rs1266455190 |
467 | P>L | No |
ClinGen gnomAD |
|
|
CA388575301 rs1247476412 |
467 | P>T | No |
ClinGen gnomAD |
|
|
rs1220988802 CA388575314 |
468 | Q>H | No |
ClinGen gnomAD |
|
|
CA388575307 rs1359133796 |
468 | Q>K | No |
ClinGen gnomAD |
|
|
rs1566288769 CA388575316 |
469 | P>S | No |
ClinGen Ensembl |
|
|
rs752669561 CA7026235 |
470 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7026249 rs200120684 |
473 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1242086127 CA388576687 |
474 | L>P | No |
ClinGen gnomAD |
|
|
CA388576694 rs1442552354 |
476 | G>S | No |
ClinGen gnomAD |
|
|
CA388576700 rs1241303712 |
477 | S>G | No |
ClinGen TOPMed |
|
|
rs1400097324 CA388576713 |
478 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388576710 rs1380869580 |
478 | P>S | No |
ClinGen gnomAD |
|
|
rs1594502794 CA388576719 |
479 | H>P | No |
ClinGen Ensembl |
|
|
rs1343579205 CA388576731 |
481 | S>F | No |
ClinGen gnomAD |
|
|
CA388576734 rs1337642800 |
482 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs765534327 CA7026253 |
483 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1476504055 CA388576756 |
485 | V>A | No |
ClinGen gnomAD |
|
|
CA7026254 rs201301105 |
487 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309961463 CA7026256 |
488 | Q>R | No |
ClinGen TOPMed |
|
|
rs376255939 CA7026261 |
489 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026260 rs3736866 |
489 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3736866 CA7026258 |
489 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7026259 rs3736866 |
489 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388576780 rs1313450265 |
490 | G>R | No |
ClinGen gnomAD |
|
|
CA7026262 rs200968276 |
490 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1594502906 CA388576789 |
491 | V>G | No |
ClinGen Ensembl |
|
|
rs779565670 CA7026264 |
491 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7026266 rs768203931 |
492 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778418581 CA7026267 |
493 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs537423484 CA388576804 |
494 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388576800 rs1175470363 |
494 | A>T | No |
ClinGen gnomAD |
|
|
CA7026268 rs537423484 |
494 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026269 rs200978809 |
495 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777326689 CA7026271 |
496 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777326689 CA7026270 |
496 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026273 rs775562698 |
497 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763179970 CA7026274 |
497 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1247636219 CA388576827 |
499 | S>T | No |
ClinGen Ensembl |
|
|
rs1296966653 CA388576833 |
500 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767424844 CA388576843 |
501 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767424844 CA7026278 |
501 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223620409 CA388576849 |
502 | L>R | No |
ClinGen gnomAD |
|
|
COSM432651 CA7026280 rs142356955 |
505 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs779837681 CA7026281 |
507 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779837681 CA255277493 |
507 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA255277507 rs541650161 |
507 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA388576887 rs1272087197 |
508 | Q>R | No |
ClinGen TOPMed |
|
|
CA7026283 rs370495150 |
510 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778450906 CA7026284 |
512 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594503090 CA388576909 |
512 | L>V | No |
ClinGen Ensembl |
|
|
CA7026285 rs747638187 |
514 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771748804 CA7026286 |
515 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388576965 rs1566299654 |
520 | Q>H | No |
ClinGen Ensembl |
|
|
CA388576971 rs1304639127 |
521 | A>G | No |
ClinGen TOPMed |
|
|
rs933010872 CA255277543 |
523 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388576986 rs553250328 |
524 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388576987 rs768877802 |
524 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs768877802 CA7026292 |
524 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7026291 rs553250328 |
524 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026293 COSM304419 rs375791003 |
525 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1258234912 CA388576994 |
526 | D>N | No |
ClinGen TOPMed |
|
|
rs756586623 CA7026296 |
527 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7026297 rs756586623 |
527 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766256030 CA7026298 |
529 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1212416136 CA388577031 |
531 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs139183577 CA388577039 |
532 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026302 rs139183577 |
532 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026300 rs754777712 |
532 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026303 rs757969075 |
533 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255277652 rs757969075 |
533 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406298988 CA388577075 |
536 | F>C | No |
ClinGen gnomAD |
|
|
CA388577089 rs1378799001 |
538 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7026328 rs779194598 |
538 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs772244189 CA7026330 |
539 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7026331 rs559534005 |
540 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1352999767 CA388577102 |
540 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747091097 CA7026332 |
541 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388577109 rs1265266786 COSM1206532 |
541 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA388577116 rs771613292 |
542 | Y>* | No |
ClinGen gnomAD |
|
|
rs1203235326 CA388577114 |
542 | Y>C | No |
ClinGen gnomAD |
|
|
rs200956062 CA7026334 |
544 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026335 rs759324480 |
548 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1468179737 CA388577170 |
550 | T>I | No |
ClinGen gnomAD |
|
|
rs1468179737 CA388577168 |
550 | T>N | No |
ClinGen gnomAD |
|
|
CA7026337 rs775374921 |
551 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1469009079 CA388577181 |
552 | E>V | No |
ClinGen gnomAD |
|
|
CA388577185 rs1334282642 |
553 | R>* | No |
ClinGen gnomAD |
|
|
CA7026338 rs377653936 |
553 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7026339 rs542050439 |
555 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA255278486 rs1054560933 |
555 | Y>H | No |
ClinGen TOPMed |
|
|
CA388577217 rs1285317639 |
558 | D>V | No |
ClinGen gnomAD |
|
|
CA7026342 rs191037910 |
560 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1198941117 CA388577231 |
560 | E>G | No |
ClinGen TOPMed |
|
|
CA388577227 rs191037910 |
560 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388577242 rs1486808781 |
562 | I>F | No |
ClinGen TOPMed |
|
|
CA7026343 rs749966621 |
562 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM275092 CA7026345 rs149379616 |
564 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7026372 rs781506208 |
567 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA388577508 rs781506208 |
567 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs200650412 CA255279091 |
568 | S>N | No |
ClinGen Ensembl |
|
|
rs1295113552 CA388577538 |
569 | T>A | No |
ClinGen gnomAD |
|
|
CA7026373 rs373690693 |
569 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770039478 CA388577616 |
574 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs956132308 CA255279101 |
575 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA255279103 rs1011650523 |
576 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1011650523 CA388577631 |
576 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7026375 COSM3376603 rs780123613 |
577 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA388577655 rs780123613 |
577 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7026377 rs768731786 |
578 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA388577686 rs1566301458 |
580 | L>M | No |
ClinGen Ensembl |
|
|
rs368153237 CA7026378 |
581 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414850638 CA388577715 |
582 | S>G | No |
ClinGen Ensembl |
|
|
CA388577740 rs1204199565 |
584 | I>L | No |
ClinGen gnomAD |
|
|
rs1169687395 CA388577756 |
585 | F>L | No |
ClinGen TOPMed |
|
|
rs547823910 CA7026379 |
586 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255279136 rs1021708174 |
586 | P>S | No |
ClinGen TOPMed |
|
|
rs772969170 CA7026381 |
587 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760167006 CA7026382 |
588 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161200656 CA388577788 |
590 | P>R | No |
ClinGen gnomAD |
|
|
CA7026384 rs776123722 |
592 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026385 rs763393540 |
592 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776123722 CA388577801 |
592 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255279161 rs960293487 |
595 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388577823 rs960293487 |
595 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7026387 rs751828887 |
596 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7026388 rs148145329 |
602 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA255279174 rs908010704 |
604 | Q>K | No |
ClinGen TOPMed |
|
|
rs1227162641 CA388577891 |
605 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1309712228 CA388577892 |
605 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388577894 rs1309712228 |
605 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7026390 rs561765791 |
606 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388578947 rs1348983541 |
610 | E>Q | No |
ClinGen TOPMed |
|
|
CA7026409 rs750818311 |
611 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026408 rs767988593 |
611 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM249675 CA7026410 rs148334149 |
612 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7026411 rs766743570 |
612 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481425116 CA388578988 |
613 | S>L | No |
ClinGen gnomAD |
|
|
rs146162808 CA255256983 |
619 | D>V | No |
ClinGen ESP |
|
|
rs755137438 CA7026413 |
620 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388579108 rs1413142780 |
622 | R>S | No |
ClinGen gnomAD |
|
|
rs748184474 CA7026415 |
624 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA388579140 rs1158986522 |
625 | D>G | No |
ClinGen TOPMed |
|
|
CA388579135 rs1306700523 |
625 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1346867682 CA388579161 |
627 | M>V | No |
ClinGen gnomAD |
|
|
CA388579217 rs1364997225 |
631 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1566309737 CA388579232 |
632 | Q>E | No |
ClinGen Ensembl |
|
|
rs779555114 CA7026447 |
636 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769331960 CA7026446 |
636 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388579699 rs61730891 |
638 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7026448 rs61730891 |
638 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7026450 rs531287304 |
639 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA255261732 rs893094248 |
639 | A>V | No |
ClinGen TOPMed |
|
|
rs754400207 CA255261733 |
640 | H>D | No |
ClinGen TOPMed |
|
|
CA388579706 rs754400207 |
640 | H>Y | No |
ClinGen TOPMed |
|
|
rs577544135 CA255261741 |
641 | L>P | No |
ClinGen 1000Genomes |
|
|
CA7026451 rs761110922 |
642 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs61730892 CA7026453 |
644 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61730892 CA7026452 |
644 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1470891108 CA388579739 |
645 | S>G | No |
ClinGen gnomAD |
|
|
CA7026456 rs139439471 |
646 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7026455 rs765401742 |
646 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762983207 CA7026457 |
647 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA388579760 rs1406557030 |
648 | L>S | No |
ClinGen gnomAD |
|
|
rs372874569 CA7026458 |
649 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372874569 CA388579764 |
649 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751555165 CA7026459 |
650 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7026462 rs750195885 |
652 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255261831 rs750195885 |
652 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750195885 CA388579781 |
652 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026463 rs755755340 |
653 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265169369 CA388579799 |
654 | G>E | No |
ClinGen gnomAD |
|
|
rs1472805652 CA388579802 |
655 | I>V | No |
ClinGen TOPMed |
|
|
CA7026465 rs748811839 |
656 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778421318 CA7026467 |
658 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs771579289 CA7026469 |
659 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs771579289 CA388579828 |
659 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs149698535 CA7026468 |
659 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388579832 rs746249444 |
660 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026471 rs746249444 |
660 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145494993 COSM949130 CA7026470 |
660 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs566259022 CA255261881 |
663 | N>S | No |
ClinGen Ensembl |
|
|
rs764222799 CA7026475 |
664 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561179020 CA7026474 |
664 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026477 rs761677553 |
666 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs767461691 CA7026478 |
666 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA255261910 rs375413721 |
668 | F>C | No |
ClinGen ESP gnomAD |
|
|
CA388579884 rs375413721 |
668 | F>S | No |
ClinGen ESP gnomAD |
|
|
CA7026480 rs755915766 |
670 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388579910 rs1451657036 |
672 | K>T | No |
ClinGen gnomAD |
|
|
CA7026481 rs766043865 |
673 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs754684128 CA7026484 |
674 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA388579937 rs1566314187 |
675 | Y>H | No |
ClinGen Ensembl |
|
|
rs1594528333 CA388579941 |
675 | Y>S | No |
ClinGen Ensembl |
|
|
CA7026486 rs145689386 |
677 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145689386 CA7026488 |
677 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781588904 CA7026492 |
679 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA388580004 rs1302431831 |
680 | T>A | No |
ClinGen gnomAD |
|
|
rs1461918644 CA388580007 |
680 | T>I | No |
ClinGen TOPMed |
|
|
CA388580002 rs1302431831 |
680 | T>P | No |
ClinGen gnomAD |
|
|
CA255262012 rs934409274 |
682 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs376189432 CA7026496 |
682 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181363933 CA7026501 |
684 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026499 rs370311912 |
684 | R>W | No |
ClinGen ESP TOPMed |
|
|
CA7026503 rs761924981 |
686 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7026504 rs761924981 |
686 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1224295023 CA388580085 |
687 | H>P | No |
ClinGen TOPMed |
|
|
CA7026506 rs760517221 |
687 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7026508 rs147653421 |
688 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026507 rs766022805 |
688 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA919339693 rs1566314363 |
690 | M>I | No |
ClinGen Ensembl |
|
|
rs765014438 CA7026510 |
690 | M>T | No |
ClinGen ExAC |
|
|
CA388580131 rs1340728793 |
691 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388580138 rs1225330603 |
691 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1340728793 CA388580129 |
691 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388580137 rs1225330603 |
691 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7026511 rs752223102 |
692 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7026513 rs781713656 |
693 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907050125 CA255262108 |
693 | K>R | No |
ClinGen TOPMed |
|
|
CA388580179 rs1263322803 |
694 | Q>P | No |
ClinGen gnomAD |
|
|
CA7026514 rs750957457 |
695 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs750957457 CA388580192 |
695 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1365170344 CA388580211 |
697 | E>K | No |
ClinGen TOPMed |
|
|
rs200285750 CA7026517 |
698 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026516 rs200285750 |
698 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026515 rs756645969 |
698 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026519 rs201549638 |
700 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA388580245 rs201549638 |
700 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7026520 rs748217498 |
701 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7026521 rs772112088 |
702 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1387349286 CA388580283 |
702 | H>Q | No |
ClinGen gnomAD |
|
|
CA7026522 rs201729016 |
703 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7026523 rs760473299 |
704 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7026524 rs770924989 |
704 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs372128821 CA7026525 |
705 | P>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs372128821 CA7026526 |
705 | P>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA388580323 rs1241939425 |
706 | S>G | No |
ClinGen gnomAD |
|
|
rs376434946 CA7026528 |
708 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026529 rs762547925 |
709 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388580368 rs762547925 |
709 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763445579 CA7026530 |
710 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1462442293 CA388580382 |
710 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1195882627 CA388580387 |
710 | F>S | No |
ClinGen TOPMed |
|
|
rs751089952 CA388580410 |
712 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751089952 CA7026531 |
712 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026532 rs756525308 |
713 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs142264894 CA388580440 |
714 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142264894 CA7026534 |
714 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM26283 rs1458028855 VAR_035851 CA388580444 |
714 | R>L | a breast cancer sample; somatic mutation breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
|
rs1458028855 COSM1368149 CA388580443 |
714 | R>Q | large_intestine urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA388580448 rs1158691028 |
715 | A>T | No |
ClinGen gnomAD |
|
|
rs1424917374 CA388581027 |
716 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1259060042 CA388581032 |
716 | A>V | No |
ClinGen TOPMed |
|
|
rs1431732571 CA388581043 |
718 | A>E | No |
ClinGen gnomAD |
|
|
CA7026558 rs372326477 |
719 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388581065 rs1330086588 |
721 | T>M | No |
ClinGen TOPMed |
|
|
CA388581080 rs1305681141 |
723 | M>I | No |
ClinGen gnomAD |
|
|
rs1594534669 CA388581083 |
724 | V>M | No |
ClinGen Ensembl |
|
|
rs1366891358 CA388581094 |
725 | A>V | No |
ClinGen gnomAD |
|
|
rs1436829471 CA388581096 |
726 | Q>E | No |
ClinGen gnomAD |
|
|
CA388581098 rs1273821946 |
726 | Q>R | No |
ClinGen gnomAD |
|
|
rs775372981 CA7026563 |
729 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs369055657 CA7026562 |
729 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749135628 CA7026564 |
730 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026566 rs150432830 |
734 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766950893 CA7026568 |
735 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs761227154 CA7026567 |
735 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487722528 CA388581168 |
736 | N>S | No |
ClinGen gnomAD |
|
|
CA7026569 rs772725645 |
738 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255270318 rs371580299 |
741 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1449462113 CA388581205 |
741 | H>Y | No |
ClinGen gnomAD |
|
|
rs763611598 CA7026572 |
742 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763611598 CA255270341 |
742 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026573 rs146045655 |
743 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7026575 rs751873200 |
745 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7026577 rs140045465 |
748 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757425108 CA7026576 |
748 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7026578 rs745963568 |
750 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1454834580 CA388581275 |
751 | D>E | No |
ClinGen gnomAD |
|
|
rs1420255476 CA388581270 |
751 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs376912711 CA255270372 |
753 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1320182768 CA388581295 |
755 | V>I | No |
ClinGen gnomAD |
|
|
rs369190259 CA7026581 |
756 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167906458 CA388583213 |
759 | E>V | No |
ClinGen gnomAD |
|
|
rs1351309515 CA388583262 |
760 | F>L | No |
ClinGen gnomAD |
|
|
rs745779296 CA7026696 COSM949132 |
762 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7026697 rs768787362 |
762 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594539485 CA388583320 |
763 | L>R | No |
ClinGen Ensembl |
|
|
CA388583354 rs1433155014 |
764 | G>D | No |
ClinGen TOPMed |
|
|
CA7026698 rs774490653 |
765 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026699 rs761595160 |
768 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772081486 CA388583506 |
770 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772081486 CA7026700 |
770 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772081486 CA388583509 |
770 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388583535 rs1188222695 |
771 | G>V | No |
ClinGen TOPMed |
|
|
rs773218435 CA255273627 |
777 | R>C | No |
ClinGen gnomAD |
|
|
CA7026703 rs573784729 |
777 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388583721 rs1258102897 |
778 | M>I | No |
ClinGen TOPMed |
|
|
CA388583725 rs1258102897 |
778 | M>I | No |
ClinGen TOPMed |
|
|
CA388583757 rs1191087138 |
779 | F>L | No |
ClinGen gnomAD |
|
|
CA388583735 rs1467366498 |
779 | F>L | No |
ClinGen gnomAD |
|
|
rs368369581 CA7026723 |
783 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7026725 rs200140369 |
784 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7026727 rs145105522 |
785 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388584031 rs1289435124 |
788 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1203904902 CA388584042 |
789 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA388584046 rs1203904902 |
789 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766670787 CA7026730 |
791 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026729 COSM135638 rs142251812 |
791 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA388584090 rs549931556 |
794 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026732 rs549931556 |
794 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026735 rs758570516 |
797 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388584106 rs1566321416 |
797 | N>S | No |
ClinGen Ensembl |
|
|
CA388584120 rs1157520788 |
799 | F>L | No |
ClinGen TOPMed |
|
|
rs1594540027 CA388584127 |
800 | K>Q | No |
ClinGen Ensembl |
|
|
CA388584143 rs1174266777 |
801 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7026738 rs532699999 |
802 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs113277361 CA7026737 |
802 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7026740 rs745695159 |
803 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368768744 CA7026744 |
806 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761119851 CA7026746 |
808 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754181741 CA7026748 |
809 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026749 rs755395264 |
811 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192616500 CA7026750 |
811 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781266897 CA7026774 |
812 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs750319515 CA388585623 |
814 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750319515 CA7026775 |
814 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756018009 CA388585650 |
815 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756018009 CA7026776 |
815 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7026778 rs377118186 |
816 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778595557 CA7026780 |
818 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255274718 rs201529177 |
819 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026781 rs201529177 |
819 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026782 rs201529177 |
819 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261149322 CA388585793 |
820 | G>E | No |
ClinGen gnomAD |
|
|
rs1594541333 CA388585808 |
821 | V>G | No |
ClinGen Ensembl |
|
|
CA388585801 rs567233846 |
821 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA388585805 rs567233846 |
821 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA255274732 rs567233846 |
821 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1377503340 CA388585826 |
822 | P>L | No |
ClinGen TOPMed |
|
|
CA388585813 rs545344298 |
822 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA255274734 rs545344298 |
822 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7026783 rs772725739 |
823 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1418904115 CA388585847 |
823 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388585905 rs1163299526 |
825 | L>Q | No |
ClinGen gnomAD |
|
|
rs1594541372 CA388585917 |
826 | T>P | No |
ClinGen Ensembl |
|
|
CA7026785 rs577035758 |
828 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760043052 CA7026784 |
828 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026786 rs541195426 |
829 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150753036 CA7026788 |
831 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026787 rs141142662 |
831 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1594541418 CA388586040 |
833 | S>A | No |
ClinGen Ensembl |
|
|
rs1312919850 CA388586047 |
833 | S>F | No |
ClinGen gnomAD |
|
|
CA388586082 rs1290048873 |
835 | I>T | No |
ClinGen gnomAD |
|
|
CA388586074 rs1256434339 |
835 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767646459 CA7026791 |
836 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388586143 rs766265936 |
838 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026794 rs766265936 |
838 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026820 rs530354815 |
841 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026819 rs530354815 |
841 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026821 rs530354815 |
841 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369687276 CA7026818 |
841 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA388586270 rs1354805057 |
843 | E>G | No |
ClinGen gnomAD |
|
|
CA388586262 rs1169909026 |
843 | E>K | No |
ClinGen gnomAD |
|
|
CA388586301 rs1216190197 |
845 | E>* | No |
ClinGen TOPMed |
|
|
CA388586336 rs1341840288 |
846 | K>N | No |
ClinGen TOPMed |
|
|
rs1313644867 CA388586430 |
849 | E>A | No |
ClinGen gnomAD |
|
|
CA388586474 rs1461162545 |
850 | D>E | No |
ClinGen gnomAD |
|
|
rs1296305759 COSM697147 CA388586533 |
852 | Q>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs199981965 CA7026824 |
853 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199981965 CA7026823 |
853 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200890628 CA7026825 |
855 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7026826 rs749696809 |
858 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388586687 rs1332658780 |
858 | A>V | No |
ClinGen TOPMed |
|
|
CA7026829 rs748561805 |
860 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774816455 CA7026828 |
860 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs9584848 CA7026831 |
861 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1252972851 CA388586813 |
864 | P>S | No |
ClinGen gnomAD |
|
|
CA7026834 rs140457168 |
865 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026835 rs759433247 |
865 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA388586864 rs1167810427 |
867 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388586866 rs1167810427 |
867 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1351426584 CA388586887 |
868 | F>L | No |
ClinGen gnomAD |
|
|
rs1461733718 CA388587012 |
872 | S>R | No |
ClinGen gnomAD |
|
|
rs752469865 CA7026837 |
874 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189298900 CA388587057 |
874 | P>H | No |
ClinGen TOPMed |
|
|
CA388587060 rs1189298900 |
874 | P>R | No |
ClinGen TOPMed |
|
|
rs752469865 CA388587052 |
874 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388587104 rs1442805500 |
876 | N>I | No |
ClinGen TOPMed |
|
|
CA7026853 rs144535978 |
878 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026851 rs144535978 |
878 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026852 rs144535978 |
878 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7026855 rs542206907 |
879 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA255275373 rs1007902971 |
880 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7026858 rs751388367 |
883 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145597966 CA7026860 |
884 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs190467958 CA7026861 |
884 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388587446 rs1446898480 |
885 | A>T | No |
ClinGen gnomAD |
|
|
CA7026863 rs779716619 |
885 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1303682854 CA388587480 |
886 | D>N | No |
ClinGen gnomAD |
|
|
CA7026865 rs758967753 |
887 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7026866 rs777961559 |
889 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1186692621 CA388587615 |
890 | E>K | No |
ClinGen gnomAD |
|
|
rs781453525 CA7026869 |
895 | A>T | No |
ClinGen ExAC |
|
|
rs745947051 COSM697145 CA7026870 |
896 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1157099768 CA388587786 |
897 | R>H | No |
ClinGen gnomAD |
|
|
CA388587799 rs1295141792 |
898 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs979957135 CA255275505 |
898 | T>S | No |
ClinGen TOPMed |
|
|
CA7026872 rs530179403 |
899 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026873 rs530179403 |
899 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026875 rs61749894 |
902 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761715043 CA7026877 |
902 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7026876 rs761715043 |
902 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs772933763 CA7026878 |
905 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388587936 rs1245440914 |
906 | H>R | No |
ClinGen TOPMed |
|
|
CA388587930 rs1482490319 |
906 | H>Y | No |
ClinGen TOPMed |
|
|
rs765939276 CA7026880 |
907 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753430729 CA7026881 |
907 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026883 rs370388585 |
908 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388587987 rs1308250607 |
909 | N>S | No |
ClinGen TOPMed |
|
|
CA7026885 rs757710271 |
910 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7026884 rs751859757 |
910 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA388587998 rs751859757 |
910 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA255275612 rs781539062 |
911 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781539062 CA7026886 |
911 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746029827 CA7026887 |
912 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746029827 CA388588018 |
912 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs148511043 CA7026888 |
913 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148511043 CA255275620 |
913 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388588054 COSM369154 rs1396991420 |
914 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1337299088 CA388588088 |
916 | W>* | No |
ClinGen TOPMed |
|
|
rs1435376074 CA388588096 |
916 | W>C | No |
ClinGen gnomAD |
|
|
CA388588116 rs1173051118 |
917 | H>Q | No |
ClinGen gnomAD |
|
|
rs1373926828 CA388588123 |
918 | R>C | No |
ClinGen gnomAD |
|
|
rs867452139 CA255275625 |
921 | S>I | No |
ClinGen Ensembl |
|
|
rs749424604 CA7026890 COSM1368153 |
922 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs774403096 CA7026892 |
923 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1371128259 CA388588194 |
924 | M>V | No |
ClinGen gnomAD |
|
|
CA7026893 rs747890276 |
925 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA388588223 rs1277561626 |
926 | D>N | No |
ClinGen gnomAD |
|
|
rs1594542706 CA388588257 |
928 | S>T | No |
ClinGen Ensembl |
|
|
CA7026894 rs771936999 |
930 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388588294 rs1453702427 |
931 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1453702427 CA388588296 |
931 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA388588287 rs1253588758 |
931 | V>M | No |
ClinGen gnomAD |
|
|
rs768242472 CA255275649 |
932 | E>Q | No |
ClinGen gnomAD |
|
|
rs752761414 CA7026930 |
933 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs752761414 CA7026931 |
933 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1313053849 CA388591043 |
934 | Q>L | No |
ClinGen gnomAD |
|
|
rs1594551236 CA388591062 |
937 | G>E | No |
ClinGen Ensembl |
|
|
rs1354611812 CA388591068 |
938 | N>S | No |
ClinGen gnomAD |
|
|
rs770786508 CA7026934 |
943 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs745471591 CA7026936 |
945 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1351541967 CA388591122 |
946 | S>G | No |
ClinGen gnomAD |
|
|
CA7026937 rs769358579 |
946 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772553611 CA388591137 |
948 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7026939 rs762497844 |
948 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772553611 CA7026940 |
948 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA255280859 rs753197495 |
951 | K>R | No |
ClinGen Ensembl |
|
|
CA388591175 rs1398588599 |
953 | W>C | No |
ClinGen TOPMed |
|
|
CA388591169 rs1253094636 |
953 | W>R | No |
ClinGen gnomAD |
|
|
rs1420207559 CA388591172 |
953 | W>S | No |
ClinGen gnomAD |
|
|
rs1377971953 CA388591181 |
954 | V>G | No |
ClinGen gnomAD |
|
|
rs371819014 CA7026944 |
955 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs951847519 CA255280897 |
957 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7026948 rs752812700 |
962 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7026949 rs758620517 |
964 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751487619 CA7026951 |
966 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1311897796 CA388591267 |
967 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7026952 rs757279927 |
968 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388591296 rs1566329070 |
969 | D>G | No |
ClinGen Ensembl |
|
|
CA7026986 rs769999839 |
970 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388591312 rs1271134394 |
971 | H>Q | No |
ClinGen TOPMed |
|
|
rs776023082 CA7026987 |
971 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388591316 rs1242190700 |
972 | P>S | No |
ClinGen gnomAD |
|
|
CA388591325 rs1487761429 |
973 | L>R | No |
ClinGen gnomAD |
|
|
rs763223136 CA7026988 |
974 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs887710421 CA255281406 |
975 | S>I | No |
ClinGen TOPMed |
|
|
rs1259136367 CA388591336 |
975 | S>R | No |
ClinGen TOPMed |
|
|
rs764446500 CA7026989 |
979 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388591360 rs200545303 |
980 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764577993 CA255281423 |
980 | G>D | No |
ClinGen Ensembl |
|
|
CA7026992 rs200545303 |
980 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411592277 CA388591370 |
981 | Y>* | No |
ClinGen gnomAD |
|
|
CA7026994 rs750259401 |
982 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026993 rs750259401 |
982 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7026996 rs202086143 |
983 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357577575 CA388591385 |
984 | T>I | No |
ClinGen gnomAD |
|
|
CA388591382 rs1296542394 |
984 | T>S | No |
ClinGen gnomAD |
|
|
CA388591389 rs1407417529 |
985 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388591404 rs1468669479 |
987 | S>F | No |
ClinGen TOPMed |
|
|
rs747653583 CA7026999 |
988 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA702903208 rs1175880249 |
989 | S>* | No |
ClinGen TOPMed |
|
|
rs777359140 CA7027001 |
990 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA255281476 rs997755328 |
990 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA255281482 rs138316496 |
991 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7027002 rs138316496 |
991 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323838053 CA388591443 |
993 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA388591461 rs1486351562 |
996 | Y>D | No |
ClinGen TOPMed |
|
|
CA388591471 rs1186644140 |
997 | V>A | No |
ClinGen gnomAD |
|
|
CA7027005 rs369210249 |
997 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369210249 CA7027006 |
997 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471121088 CA388591480 |
998 | F>L | No |
ClinGen gnomAD |
|
|
rs966737892 CA388591489 |
1000 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs966737892 CA255281523 |
1000 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs144436647 CA7027008 |
1002 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144436647 CA388591507 |
1002 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388591521 rs1419222294 |
1004 | S>F | No |
ClinGen gnomAD |
|
|
rs199887537 CA7027011 |
1006 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333929929 CA388591548 |
1008 | Y>F | No |
ClinGen gnomAD |
|
|
rs1336461380 CA388591543 |
1008 | Y>N | No |
ClinGen TOPMed |
|
|
CA388591562 rs1450849268 |
1010 | R>T | No |
ClinGen TOPMed |
|
|
CA7027012 rs371359681 COSM949146 |
1011 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA388591593 rs1280606886 |
1012 | E>D | No |
ClinGen gnomAD |
|
|
CA388591605 rs1376770800 |
1013 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759394760 CA7027014 |
1014 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765023336 CA7027015 |
1016 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027018 rs369179780 |
1018 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388591665 rs369179780 |
1018 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775122454 CA7027057 |
1021 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027056 rs769767039 |
1021 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs867119017 CA255288837 |
1022 | E>G | No |
ClinGen Ensembl |
|
|
CA388592659 rs1273777383 |
1024 | I>M | No |
ClinGen gnomAD |
|
|
CA388592657 rs1566330989 |
1024 | I>T | No |
ClinGen Ensembl |
|
|
rs143527821 CA7027060 |
1025 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7027061 rs761568994 |
1025 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7027062 rs767086119 |
1026 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566331018 CA388592674 |
1027 | A>D | No |
ClinGen Ensembl |
|
|
rs1594555117 CA388592677 |
1028 | T>P | No |
ClinGen Ensembl |
|
|
rs147158245 CA255288847 |
1029 | S>N | No |
ClinGen ESP |
|
|
CA388592707 rs1262947184 |
1032 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs549979587 CA7027067 COSM1178109 |
1033 | R>* | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs778015208 CA7027068 |
1033 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388592715 rs1208647741 |
1034 | P>R | No |
ClinGen TOPMed |
|
|
CA388592724 rs757505772 |
1035 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027070 rs753094478 |
1035 | H>QALNSRED* | No |
ClinGen ExAC |
|
|
CA7027073 rs781221529 |
1036 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781221529 CA7027072 |
1036 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027075 rs564920541 |
1037 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1419957820 CA388592735 |
1038 | S>C | No |
ClinGen gnomAD |
|
|
rs1594555217 CA388592740 |
1038 | S>N | No |
ClinGen Ensembl |
|
|
CA255288947 rs997043411 |
1039 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs144389557 CA7027079 |
1040 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7027083 rs767317332 |
1043 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs761515895 CA7027082 |
1043 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs150804986 CA7027085 |
1044 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547288924 CA7027086 |
1045 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1432789671 CA388592781 |
1045 | Y>D | No |
ClinGen TOPMed |
No associated diseases with Q9Y4F1
10 regional properties for Q9Y4F1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 540 - 730 | IPR000219 |
| domain | FERM domain | 40 - 320 | IPR000299 |
| domain | Pleckstrin homology domain | 759 - 858 | IPR001849-1 |
| domain | Pleckstrin homology domain | 932 - 1031 | IPR001849-2 |
| domain | FERM adjacent | 328 - 374 | IPR014847 |
| domain | FERM, N-terminal | 44 - 106 | IPR018979 |
| domain | FERM, C-terminal PH-like domain | 234 - 324 | IPR018980 |
| conserved_site | FERM conserved site | 94 - 123 | IPR019747 |
| domain | Band 4.1 domain | 36 - 230 | IPR019749 |
| domain | FARP1/FARP2/FRMD7, FERM domain C-lobe | 217 - 337 | IPR041788 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| extrinsic component of postsynaptic membrane | The component of the postsynaptic membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| small GTPase binding | Binding to a small monomeric GTPase. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| dendrite morphogenesis | The process in which the anatomical structures of a dendrite are generated and organized. |
| postsynaptic actin cytoskeleton 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 and their associated proteins in the postsynaptic actin cytoskeleton. |
| regulation of presynapse assembly | Any process that modulates the frequency, rate or extent of presynapse assembly. |
| retrograde trans-synaptic signaling by trans-synaptic protein complex | Cell-cell signaling from postsynapse to presynapse, across the synaptic cleft, mediated by trans-synaptic protein complex. |
| synapse assembly | The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional). |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1P065 | FARP1 | FERM, ARHGEF and pleckstrin domain-containing protein 1 | Gallus gallus (Chicken) | SS |
| O94887 | FARP2 | FERM, ARHGEF and pleckstrin domain-containing protein 2 | Homo sapiens (Human) | SS |
| A2AD83 | Frmd7 | FERM domain-containing protein 7 | Mus musculus (Mouse) | PR |
| Q91VS8 | Farp2 | FERM, ARHGEF and pleckstrin domain-containing protein 2 | Mus musculus (Mouse) | EV |
| F8VPU2 | Farp1 | FERM, ARHGEF and pleckstrin domain-containing protein 1 | Mus musculus (Mouse) | SS |
| F1LYQ8 | Farp1 | FERM, ARHGEF and pleckstrin domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEIEQRPTP | GSRLGAPENS | GISTLERGQK | PPPTPSGKLV | SIKIQMLDDT | QEAFEVPQRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PGKVLLDAVC | NHLNLVEGDY | FGLEFPDHKK | ITVWLDLLKP | IVKQIRRPKH | VVVKFVVKFF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPDHTQLQEE | LTRYLFALQV | KQDLAQGRLT | CNDTSAALLI | SHIVQSEIGD | FDEALDREHL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AKNKYIPQQD | ALEDKIVEFH | HNHIGQTPAE | SDFQLLEIAR | RLEMYGIRLH | PAKDREGTKI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLAVANTGIL | VFQGFTKINA | FNWAKVRKLS | FKRKRFLIKL | RPDANSAYQD | TLEFLMASRD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FCKSFWKICV | EHHAFFRLFE | EPKPKPKPVL | FSRGSSFRFS | GRTQKQVLDY | VKEGGHKKVQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FERKHSKIHS | IRSLASQPTE | LNSEVLEQSQ | QSTSLTFGEG | AESPGGQSCR | RGKEPKVSAG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EPGSHPSPAP | RRSPAGNKQA | DGAASAPTEE | EEEVVKDRTQ | QSKPQPPQPS | TGSLTGSPHL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SELSVNSQGG | VAPANVTLSP | NLSPDTKQAS | PLISPLLNDQ | ACPRTDDEDE | GRRKRFPTDK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AYFIAKEVST | TERTYLKDLE | VITSWFQSTV | SKEDAMPEAL | KSLIFPNFEP | LHKFHTNFLK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EIEQRLALWE | GRSNAQIRDY | QRIGDVMLKN | IQGMKHLAAH | LWKHSEALEA | LENGIKSSRR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LENFCRDFEL | QKVCYLPLNT | FLLRPLHRLM | HYKQVLERLC | KHHPPSHADF | RDCRAALAEI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TEMVAQLHGT | MIKMENFQKL | HELKKDLIGI | DNLVVPGREF | IRLGSLSKLS | GKGLQQRMFF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LFNDVLLYTS | RGLTASNQFK | VHGQLPLYGM | TIEESEDEWG | VPHCLTLRGQ | RQSIIVAASS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RSEMEKWVED | IQMAIDLAEK | SSSPAPEFLA | SSPPDNKSPD | EATAADQESE | DDLSASRTSL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ERQAPHRGNT | MVHVCWHRNT | SVSMVDFSIA | VENQLSGNLL | RKFKNSNGWQ | KLWVVFTNFC |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LFFYKSHQDN | HPLASLPLLG | YSLTIPSESE | NIQKDYVFKL | HFKSHVYYFR | AESEYTFERW |
| 1030 | 1040 | ||||
| MEVIRSATSS | ASRPHVLSHK | ESLVY |