Q9Y613
Gene name |
FHOD1 (FHOS, FHOS1) |
Protein name |
FH1/FH2 domain-containing protein 1 |
Names |
Formin homolog overexpressed in spleen 1, FHOS, Formin homology 2 domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29109 |
EC number |
|
Protein Class |
FORMIN HOMOLOGY 2 DOMAIN CONTAINING, ISOFORM I (PTHR45920) |

Descriptions
Formin-family proteins, in the active state, form actin-based structures such as stress fibers. Formin homology domain protein 1 (FHOD1) is a major endothelial formin and is normally autoinhibited by intramolecular interaction between the N-terminal GBD domain and C-terminal DAD domain. The release of DAD allows the FH2 domain to then nucleate and elongate non-branched actin filaments.
Autoinhibitory domains (AIDs)
Target domain |
616-1013 (FH2 domains) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Deletion assay, Split protein assay |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

4 structures for Q9Y613
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3DAD | X-ray | 230 A | A/B | 1-339 | PDB |
6XF1 | X-ray | 280 A | B/D | 14-334 | PDB |
6XF2 | X-ray | 711 A | B/D | 14-334 | PDB |
AF-Q9Y613-F1 | Predicted | AlphaFoldDB |
1032 variants for Q9Y613
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA396314464 rs1213350921 |
2 | A>P | No |
ClinGen gnomAD |
|
CA282322989 rs202198443 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1225828340 CA396314422 |
3 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1307433020 CA396314402 |
4 | G>W | No |
ClinGen gnomAD |
|
CA396314366 rs1214633722 |
6 | D>N | No |
ClinGen gnomAD |
|
rs766867560 CA8106624 |
7 | R>G | No |
ClinGen ExAC gnomAD |
|
rs371173821 CA8106623 |
8 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1265666981 CA396314254 |
10 | G>A | No |
ClinGen gnomAD |
|
CA8106620 rs539343247 |
12 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs539343247 CA8106619 |
12 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA282322943 rs557437499 |
12 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
rs557437499 CA396314177 |
12 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
CA396314157 rs1171120616 |
13 | V>L | No |
ClinGen gnomAD |
|
CA396314101 rs1475037099 |
15 | V>A | No |
ClinGen TOPMed |
|
rs1430355671 CA396314108 |
15 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA396314095 rs1393404584 |
16 | V>M | No |
ClinGen gnomAD |
|
CA8106618 rs768513270 |
17 | T>A | No |
ClinGen ExAC gnomAD |
|
rs749236488 CA8106617 |
17 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1255213937 CA396314026 |
18 | V>G | No |
ClinGen gnomAD |
|
rs769604004 CA8106615 |
21 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs867246971 CA282322931 |
22 | Y>H | No |
ClinGen gnomAD |
|
rs867246971 CA396313954 |
22 | Y>N | No |
ClinGen gnomAD |
|
rs571828284 CA8106613 |
23 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs745712930 CA8106614 |
23 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396313820 rs1233054976 |
27 | D>N | No |
ClinGen gnomAD |
|
rs779142609 CA8106610 |
30 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779142609 CA396313738 |
30 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106609 rs755488635 |
31 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395561984 CA396313703 |
31 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA8106607 rs199924523 |
35 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396313585 rs1435509255 |
36 | E>D | No |
ClinGen gnomAD |
|
rs1173097174 CA396313609 |
36 | E>K | No |
ClinGen gnomAD |
|
CA396313550 rs1397104508 |
38 | R>C | No |
ClinGen gnomAD |
|
CA8106606 rs750850328 |
38 | R>H | No |
ClinGen ExAC gnomAD |
|
CA8106605 rs750850328 |
38 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1418829065 CA396313536 |
39 | R>W | No |
ClinGen gnomAD |
|
rs767070782 CA396313515 |
40 | A>P | No |
ClinGen ExAC gnomAD |
|
CA8106604 rs767070782 |
40 | A>S | No |
ClinGen ExAC gnomAD |
|
CA282322892 rs767070782 |
40 | A>T | No |
ClinGen ExAC gnomAD |
|
rs992063266 CA282322885 |
41 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA396313468 rs1597336947 |
41 | P>L | No |
ClinGen Ensembl |
|
rs1484994701 CA396313460 |
42 | T>I | No |
ClinGen gnomAD |
|
rs1209541498 CA396313455 |
43 | C>S | No |
ClinGen gnomAD |
|
rs761530842 CA8106603 |
44 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773676466 CA396313403 |
44 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761530842 CA396313412 |
44 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282322874 rs567469416 |
45 | L>P | No |
ClinGen 1000Genomes |
|
rs763615681 CA8106601 |
46 | D>E | No |
ClinGen ExAC gnomAD |
|
rs957962312 CA282322869 |
46 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1307485450 CA396313349 |
47 | G>W | No |
ClinGen gnomAD |
|
rs762833884 CA8106600 |
48 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1220658110 CA396313318 |
48 | A>V | No |
ClinGen TOPMed |
|
rs775373777 CA8106599 |
50 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396313212 rs1567399870 |
53 | A>E | No |
ClinGen Ensembl |
|
rs1453348290 CA396313159 |
54 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA396313138 rs1206679925 |
55 | I>T | No |
ClinGen TOPMed |
|
rs1370102722 CA396313113 |
56 | P>L | No |
ClinGen gnomAD |
|
CA396313123 rs1364697882 |
56 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs769770868 CA8106598 |
57 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs371163067 CA8106597 |
57 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA282322838 rs967892821 |
63 | G>R | No |
ClinGen Ensembl |
|
CA396312831 rs1465290345 |
64 | A>G | No |
ClinGen gnomAD |
|
rs1465290345 CA396312830 |
64 | A>V | No |
ClinGen gnomAD |
|
CA396312817 rs1229990575 |
65 | P>S | No |
ClinGen gnomAD |
|
rs779087433 CA8106593 |
66 | L>F | No |
ClinGen ExAC gnomAD |
|
CA396309727 rs1252073588 |
68 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs201110066 CA8106577 |
69 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396309698 rs1453167148 |
70 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs149529136 CA8106575 |
72 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149529136 CA8106574 |
72 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396309588 rs1597328066 |
73 | L>P | No |
ClinGen Ensembl |
|
rs1442166694 CA396309530 |
74 | Q>H | No |
ClinGen TOPMed |
|
rs769052388 CA8106573 |
74 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868071545 CA282316804 |
75 | V>L | No |
ClinGen Ensembl |
|
rs540354299 CA282316798 |
77 | P>A | No |
ClinGen Ensembl |
|
rs1299959982 CA396309471 |
77 | P>L | No |
ClinGen gnomAD |
|
CA396309425 rs150611515 |
79 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106571 rs150611515 |
79 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396309354 rs1439049011 |
80 | Y>* | No |
ClinGen gnomAD |
|
rs770139198 CA8106570 |
80 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA396309328 rs1239514684 |
81 | Y>* | No |
ClinGen TOPMed gnomAD |
|
CA282316789 rs769945366 |
81 | Y>C | No |
ClinGen TOPMed |
|
CA396309342 rs1334396409 |
81 | Y>D | No |
ClinGen gnomAD |
|
CA396309306 rs1328746309 |
82 | L>P | No |
ClinGen gnomAD |
|
rs866922991 CA282316782 |
83 | D>G | No |
ClinGen Ensembl |
|
rs983132447 CA282316788 |
83 | D>N | No |
ClinGen Ensembl |
|
CA282316779 rs751768375 |
84 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA396309249 rs1370591121 |
84 | T>I | No |
ClinGen gnomAD |
|
CA396309237 rs1567393918 |
85 | E>K | No |
ClinGen Ensembl |
|
rs1202882602 CA396309131 |
89 | E>K | No |
ClinGen TOPMed |
|
CA8106567 rs757610175 |
92 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA396308916 rs1483224603 |
94 | M>I | No |
ClinGen TOPMed |
|
rs1187049425 CA396308905 |
95 | L>P | No |
ClinGen TOPMed |
|
CA396308901 rs1483345839 |
96 | E>K | No |
ClinGen gnomAD |
|
rs1276797977 CA396308867 |
97 | G>C | No |
ClinGen TOPMed gnomAD |
|
rs751968775 CA8106566 |
97 | G>D | No |
ClinGen ExAC gnomAD |
|
CA396308870 rs1276797977 |
97 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1347331147 CA396308814 |
99 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA8106565 rs201953720 |
101 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs138319092 CA8106563 |
102 | I>T | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
rs758111434 CA8106562 |
103 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1291940124 CA396308571 |
104 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA282316455 rs967146400 |
106 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA282316458 rs940031284 |
106 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA396308429 rs1347930201 |
109 | T>M | No |
ClinGen Ensembl |
|
rs1022198584 CA282316454 |
113 | R>W | No |
ClinGen gnomAD |
|
rs1435471216 CA396308314 |
114 | T>A | No |
ClinGen TOPMed |
|
CA8106542 rs754484700 |
117 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753341714 CA8106541 |
121 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1413971720 CA396308037 COSM2994560 |
122 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA396308013 rs1160854447 |
123 | I>V | No |
ClinGen TOPMed |
|
rs1267728082 CA396307628 |
127 | L>P | No |
ClinGen gnomAD |
|
CA396307425 rs1305208794 |
132 | G>D | No |
ClinGen gnomAD |
|
CA396307357 rs1441351495 |
134 | E>Q | No |
ClinGen gnomAD |
|
rs748552667 CA8106526 |
135 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145840650 CA8106525 |
136 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
CA8106524 rs754648916 |
136 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748830125 CA8106523 |
137 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106522 rs779437165 |
137 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396307222 rs779437165 |
137 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748830125 CA282315995 |
137 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs910461067 CA282315979 |
138 | S>Y | No |
ClinGen Ensembl |
|
rs756065183 CA8106521 |
139 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1169304513 CA396307181 |
140 | F>L | No |
ClinGen gnomAD |
|
CA282315962 rs954629708 |
141 | S>L | No |
ClinGen Ensembl |
|
CA396306992 rs1193290163 |
145 | I>M | No |
ClinGen gnomAD |
|
CA396307025 rs1406533762 |
145 | I>N | No |
ClinGen Ensembl |
|
rs1269942068 CA396306963 |
146 | F>L | No |
ClinGen gnomAD |
|
CA8106518 rs757096015 |
147 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1254800316 CA396306812 |
148 | E>Q | No |
ClinGen gnomAD |
|
CA8106499 rs751300179 |
149 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1257478931 CA396306698 |
152 | L>M | No |
ClinGen gnomAD |
|
rs777441924 CA8106498 |
155 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106496 rs754039931 |
157 | V>E | No |
ClinGen ExAC gnomAD |
|
CA8106495 rs372756034 |
159 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1269523734 CA396306442 |
161 | G>R | No |
ClinGen TOPMed |
|
rs1269523734 CA396306431 |
161 | G>W | No |
ClinGen TOPMed |
|
rs1175703306 CA396306393 |
163 | S>G | No |
ClinGen Ensembl |
|
rs1327971983 CA723040579 |
164 | C>* | No |
ClinGen Ensembl |
|
rs1297458426 CA396306346 |
164 | C>S | No |
ClinGen gnomAD |
|
CA396306331 rs750563807 |
165 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750563807 CA8106493 |
165 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106492 rs768012015 |
167 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762232923 CA8106491 |
167 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396306254 rs762232923 |
167 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106490 rs373603283 |
172 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396306089 rs1474528498 |
173 | D>G | No |
ClinGen gnomAD |
|
CA8106488 rs763412691 |
173 | D>N | No |
ClinGen ExAC gnomAD |
|
CA396306058 rs1423944782 |
174 | H>Q | No |
ClinGen gnomAD |
|
rs1186238834 CA396306068 |
174 | H>R | No |
ClinGen gnomAD |
|
rs775256264 CA8106487 |
174 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1366811401 CA396306032 |
175 | N>S | No |
ClinGen TOPMed |
|
CA396305979 rs1409590434 |
177 | Q>H | No |
ClinGen TOPMed |
|
rs140668109 CA8106485 |
178 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1351919438 CA396305900 |
180 | I>L | No |
ClinGen TOPMed |
|
rs1268566681 CA396305871 |
181 | L>V | No |
ClinGen gnomAD |
|
rs770933496 CA8106483 |
183 | A>T | No |
ClinGen ExAC gnomAD |
|
CA396304366 rs1167301204 |
183 | A>V | No |
ClinGen TOPMed |
|
CA8106467 rs769504134 |
185 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148338011 CA8106468 |
185 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396304220 rs1227863684 |
186 | Q>* | No |
ClinGen gnomAD |
|
CA282315667 rs919184189 |
188 | M>I | No |
ClinGen Ensembl |
|
CA396304115 rs1433101647 |
189 | L>F | No |
ClinGen Ensembl |
|
rs1300167969 CA396303979 |
192 | D>V | No |
ClinGen gnomAD |
|
CA396303919 rs1355875849 |
193 | G>* | No |
ClinGen gnomAD |
|
CA396303878 rs1597326327 |
194 | M>I | No |
ClinGen Ensembl |
|
rs770380576 CA8106464 |
196 | G>E | No |
ClinGen ExAC gnomAD |
|
CA8106462 rs773001414 |
197 | V>G | No |
ClinGen ExAC gnomAD |
|
rs1597326278 CA396303755 |
198 | V>G | No |
ClinGen Ensembl |
|
rs1597326290 CA396303770 |
198 | V>M | No |
ClinGen Ensembl |
|
CA396303717 rs1315185282 |
199 | A>T | No |
ClinGen TOPMed |
|
rs772106179 CA8106460 |
204 | I>V | No |
ClinGen ExAC gnomAD |
|
rs747894579 CA8106459 |
205 | Q>H | No |
ClinGen ExAC |
|
rs1390401508 CA396303486 |
205 | Q>R | No |
ClinGen gnomAD |
|
rs1341069399 CA396303277 |
211 | C>Y | No |
ClinGen gnomAD |
|
rs587777904 CA248418 RCV000190292 |
212 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs201074597 CA8106447 |
216 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106448 rs201074597 |
216 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106446 rs766104962 |
216 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1208201473 CA396302808 |
219 | V>A | No |
ClinGen gnomAD |
|
rs151310312 CA8106442 |
220 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396302726 rs1422267033 |
221 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1410859310 COSM972366 CA396302708 |
222 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs774086008 CA8106440 |
223 | L>P | No |
ClinGen ExAC TOPMed |
|
rs774086008 CA396302663 |
223 | L>R | No |
ClinGen ExAC TOPMed |
|
rs184602535 CA8106438 |
227 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs781253183 CA8106437 |
230 | V>E | No |
ClinGen ExAC gnomAD |
|
rs1358203039 CA396302373 |
232 | Y>N | No |
ClinGen gnomAD |
|
CA396302269 rs1334476867 |
234 | E>K | No |
ClinGen gnomAD |
|
CA396302174 rs1385545175 |
235 | N>K | No |
ClinGen TOPMed |
|
rs1386214466 CA396302144 |
237 | A>T | No |
ClinGen gnomAD |
|
CA396302084 rs1386105935 |
238 | P>L | No |
ClinGen TOPMed |
|
CA8106435 rs746993596 |
239 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414202318 CA396302001 |
241 | I>V | No |
ClinGen gnomAD |
|
CA8106434 rs777922035 |
242 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8106433 rs149208562 |
242 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753286217 CA8106432 |
243 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1328803832 CA396301848 |
245 | N>D | No |
ClinGen TOPMed |
|
rs1463784973 CA396301790 |
246 | S>T | No |
ClinGen gnomAD |
|
rs1267925358 CA396301666 |
248 | A>G | No |
ClinGen gnomAD |
|
CA396301570 rs1351516779 |
251 | T>S | No |
ClinGen TOPMed |
|
rs755374138 CA8106429 |
252 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389777352 CA396301282 |
253 | A>G | No |
ClinGen gnomAD |
|
CA396301285 rs928387683 |
253 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA282315227 rs928387683 |
253 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs763948852 CA8106404 |
256 | W>* | No |
ClinGen ExAC |
|
CA396301163 rs1597325674 |
256 | W>R | No |
ClinGen Ensembl |
|
rs1451691622 CA396301124 |
257 | A>T | No |
ClinGen gnomAD |
|
rs1597325656 CA396301086 |
258 | N>S | No |
ClinGen Ensembl |
|
CA8106403 rs569469386 |
260 | V>L | No |
ClinGen ExAC gnomAD |
|
CA8106402 rs775096284 |
261 | S>T | No |
ClinGen ExAC gnomAD |
|
CA396300840 rs1489102072 |
265 | E>K | No |
ClinGen gnomAD |
|
rs769662396 CA8106400 |
268 | G>D | No |
ClinGen ExAC gnomAD |
|
rs369404876 CA8106399 |
269 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs533228055 CA8106398 |
269 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1422725668 CA396300548 |
270 | D>A | No |
ClinGen TOPMed |
|
rs1228715854 CA396300525 |
271 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA396300491 rs1216765074 |
271 | P>R | No |
ClinGen gnomAD |
|
CA8106396 rs748236698 |
273 | L>F | No |
ClinGen ExAC gnomAD |
|
rs779140496 CA8106395 |
275 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8106394 rs376479272 |
277 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA282315176 rs376479272 |
277 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372012238 CA8106391 |
279 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106390 rs372012238 |
279 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1170949707 CA396299673 |
284 | T>M | No |
ClinGen TOPMed |
|
rs1465700159 CA396299637 |
286 | A>P | No |
ClinGen TOPMed |
|
rs757902430 COSM1378878 CA8106366 |
286 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs557703439 CA8106364 |
287 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs367638121 CA8106363 |
287 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
rs1264803028 CA396299544 |
288 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA8106362 rs753630901 |
288 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1264803028 CA396299595 |
288 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA8106359 rs774687823 |
289 | P>R | No |
ClinGen ExAC gnomAD |
|
CA8106360 rs762089938 |
289 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8106358 rs764462854 |
291 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA396299331 rs1216658951 |
293 | S>F | No |
ClinGen TOPMed |
|
CA8106356 rs373831988 |
295 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106355 rs775432050 |
296 | D>N | No |
ClinGen ExAC gnomAD |
|
CA8106354 rs770275000 |
298 | T>M | No |
ClinGen ExAC gnomAD |
|
CA396299071 rs1160839344 |
302 | E>K | No |
ClinGen gnomAD |
|
rs776939350 CA8106352 |
303 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA8106351 rs771252784 |
305 | G>D | No |
ClinGen ExAC gnomAD |
|
rs747423653 CA8106350 |
307 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1444868183 CA396298911 |
308 | A>T | No |
ClinGen gnomAD |
|
rs368067896 CA8106349 |
309 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs897849332 CA282314845 |
311 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs758053370 CA8106348 |
313 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA8106345 rs754899118 |
315 | G>C | No |
ClinGen ExAC gnomAD |
|
CA8106343 rs370846681 |
316 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1434780234 CA396298650 |
317 | A>V | No |
ClinGen gnomAD |
|
rs1424150810 CA396298603 |
319 | T>N | No |
ClinGen TOPMed |
|
rs547533260 CA282314826 |
320 | D>H | No |
ClinGen TOPMed |
|
rs1470337692 CA396298539 |
322 | D>N | No |
ClinGen TOPMed |
|
CA396298478 rs1377101439 |
324 | R>C | No |
ClinGen Ensembl |
|
COSM972364 CA396298466 rs1385624610 |
324 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8106339 rs764305887 |
325 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1162115126 COSM3421089 CA396298436 |
325 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1036789063 CA282314807 |
327 | L>F | No |
ClinGen Ensembl |
|
rs1424821234 CA396298393 |
327 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs1567391280 CA396298366 |
329 | L>F | No |
ClinGen Ensembl |
|
rs144258782 CA8106337 |
330 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396298309 rs144258782 |
330 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763095522 CA8106338 |
330 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA396298308 rs1367261754 |
331 | E>K | No |
ClinGen TOPMed |
|
CA396298307 rs1367261754 |
331 | E>Q | No |
ClinGen TOPMed |
|
CA8106318 rs752830654 |
333 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1408756042 CA396298016 |
339 | G>E | No |
ClinGen gnomAD |
|
rs928377874 CA282314645 |
341 | I>V | No |
ClinGen Ensembl |
|
CA396297922 rs1330516913 |
343 | E>G | No |
ClinGen gnomAD |
|
rs139581188 CA8106317 |
344 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1401257936 CA396297881 |
346 | G>D | No |
ClinGen gnomAD |
|
CA396297873 rs1177021256 |
347 | A>T | No |
ClinGen gnomAD |
|
CA396297844 rs371700085 |
349 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
CA282314632 rs371700085 |
349 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
CA396297829 rs1470577109 |
350 | R>Q | No |
ClinGen gnomAD |
|
rs766805526 CA8106313 |
351 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106314 rs150975190 |
351 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106312 rs773578700 |
353 | R>* | No |
ClinGen ExAC gnomAD |
|
CA8106310 rs772357080 |
353 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396297792 rs772357080 |
353 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396297738 rs1379952925 |
357 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA396297742 rs1379952925 |
357 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs1268126911 CA396297728 |
358 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA396297725 rs1222672555 |
358 | S>Y | No |
ClinGen TOPMed gnomAD |
|
rs748737467 CA8106305 |
359 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374375025 CA8106303 |
360 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779720663 CA8106304 |
360 | E>G | No |
ClinGen ExAC gnomAD |
|
rs745829895 CA396297648 |
361 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106302 rs745829895 |
361 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396297632 rs1355976618 |
363 | R>G | No |
ClinGen TOPMed |
|
rs1386323948 CA396297605 |
364 | S>G | No |
ClinGen gnomAD |
|
CA282314591 rs1032635811 |
364 | S>T | No |
ClinGen gnomAD |
|
CA396297571 rs1401310652 |
365 | R>P | No |
ClinGen gnomAD |
|
rs1410298332 CA396297547 |
366 | R>C | No |
ClinGen gnomAD |
|
CA8106301 rs781228896 |
366 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1244042315 CA396297500 |
367 | S>F | No |
ClinGen gnomAD |
|
CA396297483 rs1463851556 |
369 | E>K | No |
ClinGen gnomAD |
|
rs1217158444 CA396297424 |
371 | G>R | No |
ClinGen gnomAD |
|
rs1459156698 CA396297408 |
371 | G>V | No |
ClinGen gnomAD |
|
rs1316942614 CA396297392 |
372 | G>D | No |
ClinGen gnomAD |
|
rs1226200266 CA396297367 |
373 | C>F | No |
ClinGen gnomAD |
|
CA396297372 rs1226200266 |
373 | C>Y | No |
ClinGen gnomAD |
|
CA396297341 rs1315387715 |
374 | P>L | No |
ClinGen gnomAD |
|
rs753857928 CA8106296 |
375 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753857928 CA8106295 |
375 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753857928 CA282314545 |
375 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106294 rs766471183 |
375 | A>V | No |
ClinGen ExAC |
|
rs1030401479 CA282314528 |
376 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs756575045 CA8106293 |
378 | P>R | No |
ClinGen ExAC gnomAD |
|
CA396297266 rs1404911569 |
379 | E>G | No |
ClinGen gnomAD |
|
CA282314515 rs199860700 |
379 | E>K | No |
ClinGen 1000Genomes |
|
CA8106291 rs768121587 |
381 | G>S | No |
ClinGen ExAC gnomAD |
|
rs756168034 CA8106270 |
382 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767909484 CA8106268 |
384 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751818400 CA8106266 |
385 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396297015 rs1471348741 |
387 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA396296996 rs1367147641 |
388 | P>L | No |
ClinGen TOPMed |
|
rs764581326 CA8106265 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106264 rs763448887 |
390 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1597324123 CA396296937 |
392 | T>P | No |
ClinGen Ensembl |
|
rs1202888605 CA396296911 |
394 | S>P | No |
ClinGen gnomAD |
|
rs1324167486 CA396296893 |
395 | T>N | No |
ClinGen gnomAD |
|
rs1226615994 CA396296879 |
396 | G>A | No |
ClinGen gnomAD |
|
COSM972363 CA8106263 rs775259952 |
396 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs765039105 CA8106262 |
397 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396296850 rs1377357629 |
398 | A>V | No |
ClinGen gnomAD |
|
rs758964283 CA8106261 |
400 | L>R | No |
ClinGen ExAC gnomAD |
|
CA8106260 rs776209936 |
401 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770716017 CA8106259 |
402 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1450940515 CA396296767 |
403 | P>L | No |
ClinGen gnomAD |
|
rs1159287570 CA396296766 |
404 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs772953255 CA8106256 |
406 | S>N | No |
ClinGen ExAC TOPMed |
|
rs772953255 CA396296694 |
406 | S>T | No |
ClinGen ExAC TOPMed |
|
CA396296649 rs1182744774 |
407 | P>L | No |
ClinGen gnomAD |
|
rs898890195 CA282314116 |
408 | V>E | No |
ClinGen TOPMed gnomAD |
|
CA396296642 rs200846612 |
408 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8106255 rs200846612 |
408 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396296609 rs1349963338 |
410 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1241350719 CA396296591 |
411 | P>L | No |
ClinGen gnomAD |
|
rs780244054 COSM972362 CA8106253 |
413 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA396296539 rs1197217813 |
414 | L>P | No |
ClinGen TOPMed |
|
rs201882646 CA8106251 |
416 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs781350701 CA8106250 |
416 | A>V | No |
ClinGen ExAC gnomAD |
|
CA282314071 rs371370894 |
417 | S>* | No |
ClinGen ESP TOPMed gnomAD |
|
rs752072735 CA8106249 |
418 | V>L | No |
ClinGen ExAC gnomAD |
|
CA8106248 rs752072735 |
418 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8106245 rs753177881 |
419 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778470352 CA8106247 |
419 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs1444990736 CA396296369 |
422 | P>L | No |
ClinGen TOPMed |
|
CA396296361 rs1162591040 |
423 | T>A | No |
ClinGen gnomAD |
|
CA8106242 rs753239382 |
423 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106243 rs753239382 |
423 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1597323898 CA396296331 |
424 | I>N | No |
ClinGen Ensembl |
|
rs765946969 CA8106241 COSM194368 |
424 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA282314050 rs766460976 |
425 | S>C | No |
ClinGen Ensembl |
|
CA396296288 rs1190864120 |
426 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1460613314 CA396296303 |
426 | V>M | No |
ClinGen TOPMed |
|
rs1239139232 CA396296285 |
427 | A>T | No |
ClinGen gnomAD |
|
rs935687758 CA282314045 |
429 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs934284052 CA282314041 |
430 | A>D | No |
ClinGen TOPMed |
|
rs868061468 CA282314035 |
431 | D>Y | No |
ClinGen Ensembl |
|
CA8106239 rs773113128 |
432 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396296162 rs773113128 |
432 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282314030 rs112918660 |
433 | S>F | No |
ClinGen ExAC gnomAD |
|
CA8106238 rs112918660 |
433 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA8106237 rs761595877 COSM3712063 |
434 | S>R | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs774140986 CA8106236 |
435 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396295998 rs1306153599 |
438 | I>T | No |
ClinGen TOPMed |
|
rs749674590 CA8106201 |
441 | A>T | No |
ClinGen ExAC gnomAD |
|
CA396293674 rs904601743 |
442 | R>G | No |
ClinGen gnomAD |
|
CA8106200 rs779755764 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs904601743 CA282312897 |
442 | R>W | No |
ClinGen gnomAD |
|
CA8106199 rs755729329 |
443 | F>S | No |
ClinGen ExAC gnomAD |
|
CA396293499 rs371069606 |
446 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
rs1189975071 CA396293487 |
447 | V>E | No |
ClinGen TOPMed |
|
CA396293470 rs751453077 |
448 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106196 rs756795171 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8106195 rs751453077 |
448 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1350943383 CA396293427 |
449 | A>P | No |
ClinGen gnomAD |
|
CA282312871 rs1041457164 |
451 | E>A | No |
ClinGen Ensembl |
|
rs199754555 CA8106193 |
453 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8106192 rs775216754 |
454 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs766612246 CA8106191 |
455 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396293255 rs1597321403 |
456 | V>G | No |
ClinGen Ensembl |
|
CA8106190 COSM972359 rs761027309 |
457 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8106187 rs748259381 |
459 | A>V | No |
ClinGen ExAC gnomAD |
|
rs774862376 CA8106186 |
460 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396293191 rs1161926255 |
460 | Q>K | No |
ClinGen gnomAD |
|
rs576712879 CA8106185 |
461 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8106183 rs148095513 |
462 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs749656540 CA8106184 |
462 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396293131 rs1214426042 |
463 | A>E | No |
ClinGen gnomAD |
|
rs1242116105 CA396293139 COSM4141839 |
463 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs755736544 CA8106182 |
464 | E>D | No |
ClinGen ExAC gnomAD |
|
rs568216912 CA8106180 |
466 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8106177 rs150240690 |
468 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs553913184 CA282312777 |
469 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
CA396292988 rs1269572814 |
469 | A>V | No |
ClinGen gnomAD |
|
CA396292978 rs1285298373 |
470 | M>L | No |
ClinGen TOPMed |
|
rs1049360138 CA282312774 |
471 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs142023201 CA8106176 |
472 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1469270049 CA396292902 |
473 | E>D | No |
ClinGen TOPMed |
|
rs752514725 CA396292890 |
474 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1424273451 CA396292895 |
474 | A>S | No |
ClinGen gnomAD |
|
CA8106174 rs752514725 |
474 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1427155192 CA396292886 |
475 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs373548373 CA8106171 COSM1378873 |
476 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA396292855 rs1475434302 |
477 | H>R | No |
ClinGen gnomAD |
|
rs992241696 CA282312735 |
478 | P>S | No |
ClinGen Ensembl |
|
CA396292750 rs1261228089 |
480 | A>V | No |
ClinGen gnomAD |
|
CA396292747 rs199614307 |
481 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754761714 CA8106154 |
481 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs199614307 CA8106155 |
481 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396292682 rs1597320986 |
485 | D>A | No |
ClinGen Ensembl |
|
rs753689172 CA8106153 |
485 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs2271291 CA8106152 |
486 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396292628 rs1489243436 |
488 | E>G | No |
ClinGen gnomAD |
|
rs1477247004 CA396292636 |
488 | E>K | No |
ClinGen TOPMed |
|
rs1299088267 CA396292585 |
490 | A>V | No |
ClinGen gnomAD |
|
rs1449555008 CA396292531 |
493 | A>V | No |
ClinGen gnomAD |
|
CA8106151 rs551923090 |
495 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396292447 rs1597320926 |
497 | Q>* | No |
ClinGen Ensembl |
|
CA396292428 rs1468795212 |
497 | Q>H | No |
ClinGen gnomAD |
|
rs77281081 CA396292338 |
500 | A>D | No |
ClinGen gnomAD |
|
CA282312657 rs77281081 |
500 | A>G | No |
ClinGen gnomAD |
|
CA396292337 rs77281081 |
500 | A>V | No |
ClinGen gnomAD |
|
CA282312649 rs764116221 |
501 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106149 rs764116221 |
501 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1177540851 CA396292304 |
502 | C>R | No |
ClinGen gnomAD |
|
rs1567387481 CA396292260 |
503 | V>L | No |
ClinGen Ensembl |
|
CA282312614 rs74771707 |
506 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs74771707 CA396292141 |
506 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs74771707 CA8106144 |
506 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8106145 rs564483976 |
506 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770549814 CA8106142 |
507 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106143 rs770549814 |
507 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs947794746 CA282312609 |
507 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA396292113 rs770549814 |
507 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396292080 rs1308037833 |
508 | Q>H | No |
ClinGen gnomAD |
|
rs917660510 CA282312602 |
508 | Q>P | No |
ClinGen Ensembl |
|
COSM1378871 CA8106140 rs369969027 |
509 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8106141 rs369969027 |
509 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106139 rs771435032 |
509 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA396292032 rs1567387385 |
510 | S>G | No |
ClinGen Ensembl |
|
rs373647547 CA8106138 |
513 | P>Q | No |
ClinGen ESP ExAC TOPMed |
|
rs1487661400 CA396291845 |
515 | P>L | No |
ClinGen TOPMed |
|
CA396291846 rs1336571223 |
515 | P>S | No |
ClinGen gnomAD |
|
CA396291850 rs1336571223 |
515 | P>T | No |
ClinGen gnomAD |
|
rs201535041 CA396291743 |
516 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8106137 rs201535041 |
516 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs147764255 CA8106136 |
517 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1451042224 CA396291665 |
518 | P>R | No |
ClinGen gnomAD |
|
rs1055473456 CA282312592 |
519 | L>R | No |
ClinGen TOPMed |
|
CA8106135 rs753670739 |
520 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs977646364 CA396291538 |
521 | P>L | No |
ClinGen Ensembl |
|
rs977646364 CA282312581 |
521 | P>Q | No |
ClinGen Ensembl |
|
rs202036259 CA8106134 |
521 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs202036259 CA8106133 |
521 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA282312575 rs968974323 |
522 | A>G | No |
ClinGen Ensembl |
|
rs751687594 CA8106132 |
523 | S>R | No |
ClinGen ExAC gnomAD |
|
rs764393738 CA8106131 |
525 | K>R | No |
ClinGen ExAC gnomAD |
|
rs2271290 CA282312547 |
527 | E>G | No |
ClinGen Ensembl |
|
rs1445156498 CA396291321 |
527 | E>K | No |
ClinGen gnomAD |
|
CA396291267 rs1258260730 |
528 | P>L | No |
ClinGen gnomAD |
|
rs1203436423 CA396291245 |
529 | I>N | No |
ClinGen gnomAD |
|
CA8106130 rs762878368 |
531 | E>* | No |
ClinGen ExAC gnomAD |
|
CA396291113 rs1219077804 |
532 | L>I | No |
ClinGen gnomAD |
|
rs77958237 CA8106126 |
533 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs77958237 CA8106127 |
533 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1247250727 CA396291058 |
534 | T>P | No |
ClinGen gnomAD |
|
rs1342746927 CA396291008 |
535 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs550457905 CA8106125 |
535 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs550457905 CA396291004 |
535 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs772681218 CA8106123 |
538 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106122 rs771758797 |
541 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282312531 rs1008214080 |
541 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1198047093 CA396290727 |
542 | G>R | No |
ClinGen TOPMed |
|
CA8106121 rs747604950 |
543 | D>Y | No |
ClinGen ExAC |
|
rs774059853 CA8106120 |
548 | D>H | No |
ClinGen ExAC gnomAD |
|
rs774059853 CA396290464 |
548 | D>N | No |
ClinGen ExAC gnomAD |
|
CA396289003 rs1458258190 |
554 | D>H | No |
ClinGen gnomAD |
|
CA8106118 rs749275536 |
555 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs768690449 CA8106119 |
555 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA396288953 rs1427926351 |
556 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA282312521 rs1025618348 |
557 | M>I | No |
ClinGen Ensembl |
|
CA8106117 rs780166979 |
560 | V>I | No |
ClinGen ExAC gnomAD |
|
rs755811201 CA8106116 |
561 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755811201 CA396288811 |
561 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1291365175 CA396288802 |
561 | E>V | No |
ClinGen TOPMed gnomAD |
|
rs745684341 CA8106115 |
563 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106114 rs777856944 |
564 | E>V | No |
ClinGen ExAC gnomAD |
|
CA282312490 rs752754049 |
565 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106112 rs752754049 |
565 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396288703 rs1325297530 |
565 | A>V | No |
ClinGen gnomAD |
|
CA396288659 rs1387227302 |
567 | K>R | No |
ClinGen TOPMed |
|
CA396288600 rs1343221621 |
569 | I>N | No |
ClinGen TOPMed gnomAD |
|
CA396288596 rs1343221621 |
569 | I>S | No |
ClinGen TOPMed gnomAD |
|
CA8106110 rs201097392 |
571 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA396288541 rs1392619512 |
571 | A>V | No |
ClinGen gnomAD |
|
rs911975133 CA282312480 |
573 | S>* | No |
ClinGen TOPMed |
|
CA8106108 rs766923124 |
574 | P>A | No |
ClinGen ExAC gnomAD |
|
rs773691517 CA8106106 |
575 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106107 rs760881083 |
575 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396288437 rs760881083 |
575 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767062511 CA8106105 |
578 | L>P | No |
ClinGen ExAC gnomAD |
|
rs761605463 CA8106104 |
579 | L>P | No |
ClinGen ExAC gnomAD |
|
rs768237571 CA8106103 |
580 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768237571 CA8106102 |
580 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106100 rs527827835 |
581 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1350744760 CA396288267 |
582 | V>G | No |
ClinGen TOPMed |
|
rs769839495 CA8106099 |
583 | P>S | No |
ClinGen ExAC gnomAD |
|
rs769839495 CA396288256 |
583 | P>T | No |
ClinGen ExAC gnomAD |
|
CA396288218 rs1332519767 |
584 | P>L | No |
ClinGen gnomAD |
|
CA8106098 rs745640879 |
584 | P>S | No |
ClinGen ExAC gnomAD |
|
rs748329982 CA396288199 |
585 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106095 rs748329982 |
585 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396288189 rs748329982 |
585 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758519818 CA8106096 |
585 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282312436 rs202100815 |
586 | P>S | No |
ClinGen 1000Genomes |
|
rs1479123697 CA396288042 |
587 | P>R | No |
ClinGen gnomAD |
|
CA396288053 rs1173323109 |
587 | P>T | No |
ClinGen gnomAD |
|
rs779130412 CA8106085 |
588 | L>F | No |
ClinGen ExAC |
|
rs754992774 CA8106082 |
590 | P>L | No |
ClinGen ExAC |
|
rs1362347590 CA396287868 |
591 | P>L | No |
ClinGen gnomAD |
|
CA396287822 rs1240518516 |
592 | P>Q | No |
ClinGen gnomAD |
|
CA396287821 rs1240518516 |
592 | P>R | No |
ClinGen gnomAD |
|
rs766789787 CA8106080 |
592 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8106078 rs750728195 |
596 | G>S | No |
ClinGen ExAC gnomAD |
|
rs370608943 CA396287666 |
597 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370608943 CA8106076 |
597 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396287651 rs1436365704 |
598 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA396287605 rs1346641439 |
599 | P>T | No |
ClinGen gnomAD |
|
CA8106075 rs762296356 |
603 | P>S | No |
ClinGen ExAC |
|
CA396287413 rs1567386784 |
604 | L>Q | No |
ClinGen Ensembl |
|
rs762552120 CA8106072 |
605 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396287354 rs1333210430 |
606 | L>R | No |
ClinGen gnomAD |
|
rs775126250 CA8106071 |
607 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1243619674 CA396287300 |
608 | A>S | No |
ClinGen TOPMed |
|
CA396287317 rs1243619674 |
608 | A>T | No |
ClinGen TOPMed |
|
CA8106069 rs759559297 |
609 | P>L | No |
ClinGen ExAC gnomAD |
|
rs759559297 CA8106070 |
609 | P>R | No |
ClinGen ExAC gnomAD |
|
rs780261895 CA282312353 |
609 | P>S | No |
ClinGen gnomAD |
|
rs376217621 CA8106068 |
610 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396287144 rs1440628827 |
611 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA396287152 rs1440628827 |
611 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1567386701 CA396287101 |
613 | S>P | No |
ClinGen Ensembl |
|
rs1382566437 CA396287077 |
614 | V>M | No |
ClinGen gnomAD |
|
rs1444556764 CA396287046 |
615 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs746821300 CA8106066 |
616 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282312335 rs979187926 |
617 | S>R | No |
ClinGen TOPMed |
|
CA396286949 rs1251011211 |
618 | S>A | No |
ClinGen TOPMed |
|
rs1210176725 CA396286900 |
619 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA396286780 rs1281645618 |
624 | R>G | No |
ClinGen gnomAD |
|
CA396286578 rs1354082668 |
631 | W>* | No |
ClinGen gnomAD |
|
CA8106065 rs779039184 |
631 | W>R | No |
ClinGen ExAC gnomAD |
|
CA8106064 rs574787945 |
632 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs139223474 CA8106063 |
632 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139223474 CA396286546 |
632 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396286520 rs1423480466 |
633 | E>G | No |
ClinGen TOPMed |
|
rs1460949007 CA396286509 |
634 | L>V | No |
ClinGen TOPMed |
|
rs1284760151 CA396286424 |
637 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1450242086 CA396286408 |
637 | A>V | No |
ClinGen gnomAD |
|
rs1395080745 CA396286406 |
638 | G>R | No |
ClinGen TOPMed |
|
CA282312303 rs1056641182 |
640 | H>R | No |
ClinGen Ensembl |
|
CA282312308 rs866203183 |
640 | H>Y | No |
ClinGen TOPMed |
|
rs1424477137 CA396286262 |
644 | A>E | No |
ClinGen gnomAD |
|
rs750899390 CA8106060 |
644 | A>T | No |
ClinGen ExAC gnomAD |
|
CA282312280 rs992581861 |
646 | R>C | No |
ClinGen TOPMed |
|
rs756274113 CA8106059 |
646 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1473457113 CA396286191 |
647 | F>L | No |
ClinGen gnomAD |
|
CA396286181 rs1277044423 |
647 | F>S | No |
ClinGen TOPMed |
|
CA396286099 rs1239878776 |
650 | C>F | No |
ClinGen TOPMed gnomAD |
|
CA396286108 rs1239878776 |
650 | C>Y | No |
ClinGen TOPMed gnomAD |
|
rs143431266 CA8106057 |
651 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1216217779 CA396286068 |
652 | T>S | No |
ClinGen gnomAD |
|
rs763827204 CA8106056 |
655 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1200085030 CA396285910 |
658 | D>H | No |
ClinGen TOPMed |
|
rs752119367 CA8106054 |
660 | V>F | No |
ClinGen ExAC gnomAD |
|
rs752119367 CA282312266 |
660 | V>I | No |
ClinGen ExAC gnomAD |
|
rs200811858 CA396285760 |
663 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs200811858 CA282312261 |
663 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA8106052 rs758990957 |
664 | T>A | No |
ClinGen ExAC gnomAD |
|
rs139535724 CA8106051 |
664 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8106048 rs773047427 |
665 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1404674367 CA396285583 |
666 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs768842590 CA8106047 |
666 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396285525 rs1262669020 |
668 | E>Q | No |
ClinGen gnomAD |
|
rs780168242 CA8106045 |
674 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769858079 CA8106044 |
674 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8106043 rs745945448 |
676 | K>R | No |
ClinGen ExAC gnomAD |
|
CA8106042 rs146291728 |
677 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
rs1597319535 CA396285156 |
678 | V>G | No |
ClinGen Ensembl |
|
rs757901504 CA8106041 |
678 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751953340 CA8106040 |
679 | L>P | No |
ClinGen ExAC gnomAD |
|
CA396285144 rs1383836137 |
680 | P>T | No |
ClinGen TOPMed |
|
CA396284409 rs1359329177 |
687 | G>D | No |
ClinGen gnomAD |
|
rs753364765 CA8106016 |
688 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765913254 CA8106015 |
688 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374165476 CA282311242 |
689 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370261438 CA282311241 |
689 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
rs374165476 CA8106014 |
689 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8106012 rs767451584 |
690 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1325682741 CA396284313 |
691 | M>T | No |
ClinGen TOPMed |
|
CA396284328 rs1436206199 |
691 | M>V | No |
ClinGen TOPMed |
|
CA396284264 rs1368245887 |
692 | T>I | No |
ClinGen TOPMed |
|
CA8106011 rs761598605 |
693 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148737699 CA8106009 |
696 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1353368378 CA396284074 |
698 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA8106008 rs759719315 |
699 | R>C | No |
ClinGen ExAC gnomAD |
|
rs777028123 CA8106007 |
699 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396283912 rs1381198049 |
701 | N>D | No |
ClinGen gnomAD |
|
rs144361447 CA8106006 |
701 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773788569 CA8106004 COSM1470824 |
702 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA282311201 rs919044428 |
704 | N>D | No |
ClinGen TOPMed |
|
rs772521918 CA8106003 |
704 | N>I | No |
ClinGen ExAC gnomAD |
|
rs919044428 CA282311194 |
704 | N>Y | No |
ClinGen TOPMed |
|
rs1304159592 CA396283807 |
705 | I>T | No |
ClinGen gnomAD |
|
CA282311164 rs138444737 |
706 | G>D | No |
ClinGen ESP |
|
rs372426679 CA8106001 |
706 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1247336870 CA396283724 |
710 | L>Q | No |
ClinGen TOPMed |
|
CA396283697 rs1366599306 |
712 | P>L | No |
ClinGen gnomAD |
|
rs754625636 CA8106000 |
713 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105998 rs779699758 |
714 | H>R | No |
ClinGen ExAC |
|
CA8105995 rs749936714 |
718 | A>V | No |
ClinGen ExAC gnomAD |
|
CA396283398 rs1264229276 |
719 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA396283397 rs1264229276 |
719 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA396283355 rs1357781614 |
721 | L>P | No |
ClinGen gnomAD |
|
rs981586641 CA282311127 |
723 | F>C | No |
ClinGen TOPMed |
|
rs1246179053 CA396283267 |
723 | F>L | No |
ClinGen gnomAD |
|
rs375932243 CA8105993 |
726 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396283175 rs1397639242 |
727 | A>P | No |
ClinGen gnomAD |
|
rs1339421086 CA396283161 |
728 | V>I | No |
ClinGen gnomAD |
|
CA396283104 rs1298457316 |
729 | S>T | No |
ClinGen gnomAD |
|
rs1318631643 CA396283040 |
730 | K>N | No |
ClinGen gnomAD |
|
CA8105992 rs757193319 |
732 | G>A | No |
ClinGen ExAC gnomAD |
|
CA396282961 rs868302613 |
733 | I>N | No |
ClinGen TOPMed gnomAD |
|
CA282311104 rs868302613 |
733 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs751343080 CA8105991 |
733 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105965 rs752607604 |
739 | M>I | No |
ClinGen ExAC gnomAD |
|
rs766696745 CA8105964 |
740 | M>R | No |
ClinGen ExAC gnomAD |
|
rs766696745 CA396281252 |
740 | M>T | No |
ClinGen ExAC gnomAD |
|
CA396281168 rs750497587 |
742 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750497587 CA8105962 |
742 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1567384664 CA396281120 |
744 | E>V | No |
ClinGen Ensembl |
|
CA8105959 rs774658881 |
746 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105960 rs761974488 |
746 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1245201455 CA396280941 |
749 | I>T | No |
ClinGen TOPMed |
|
rs1468918530 CA396280850 |
751 | E>D | No |
ClinGen gnomAD |
|
CA8105957 rs147119985 |
755 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA282308806 rs941796786 |
756 | N>I | No |
ClinGen Ensembl |
|
rs775888417 CA8105956 |
756 | N>K | No |
ClinGen ExAC gnomAD |
|
rs941796786 CA396280697 |
756 | N>T | No |
ClinGen Ensembl |
|
rs1445862391 CA396280664 |
757 | P>R | No |
ClinGen gnomAD |
|
CA8105955 rs769408637 |
757 | P>S | No |
ClinGen ExAC gnomAD |
|
CA396280645 rs1597316964 |
758 | D>A | No |
ClinGen Ensembl |
|
rs763379100 CA282308788 |
759 | I>M | No |
ClinGen Ensembl |
|
rs147740113 CA8105953 |
759 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8105952 rs780924011 |
760 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8105950 rs746534527 |
761 | L>M | No |
ClinGen ExAC gnomAD |
|
CA8105949 rs777568988 |
761 | L>P | No |
ClinGen ExAC |
|
rs758470004 CA8105948 |
763 | P>L | No |
ClinGen ExAC gnomAD |
|
rs778889430 CA8105946 |
765 | E>K | No |
ClinGen ExAC gnomAD |
|
CA396280393 rs1276855416 |
767 | F>C | No |
ClinGen TOPMed |
|
rs1236370540 CA396280398 |
767 | F>L | No |
ClinGen gnomAD |
|
rs1260651623 CA396280267 |
773 | S>Y | No |
ClinGen gnomAD |
|
rs750561534 CA8105943 |
774 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396280188 rs140802253 |
776 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105941 rs140802253 |
776 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751725905 CA8105940 |
776 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396280149 rs1597316830 |
777 | L>P | No |
ClinGen Ensembl |
|
CA282308678 rs982289513 |
778 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs763493505 CA8105938 |
779 | A>T | No |
ClinGen ExAC gnomAD |
|
rs776011103 CA8105937 |
779 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8105936 rs753143941 |
780 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150955613 CA8105934 |
780 | R>H | No |
ClinGen ESP TOPMed |
|
rs1163185613 CA396280005 |
783 | L>R | No |
ClinGen gnomAD |
|
rs372427394 CA8105933 |
783 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776081875 CA8105932 |
784 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1009622266 CA282308655 |
784 | W>G | No |
ClinGen Ensembl |
|
rs1163307830 CA396279901 |
788 | L>P | No |
ClinGen gnomAD |
|
CA8105929 rs772829318 |
793 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1192489419 CA396279761 |
793 | M>V | No |
ClinGen gnomAD |
|
rs1243623444 CA396279699 |
794 | E>D | No |
ClinGen gnomAD |
|
rs117880323 CA8105927 |
795 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8105928 rs772102709 |
795 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779945795 CA8105904 |
800 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8105901 rs376122137 |
803 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA282308441 rs376122137 |
803 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105900 rs752842034 |
806 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105899 rs752842034 |
806 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105898 rs779379018 |
809 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105897 rs755559629 |
810 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1425585929 CA396279168 |
812 | V>I | No |
ClinGen gnomAD |
|
rs754121800 CA8105896 |
814 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396279103 rs1237545557 |
815 | A>T | No |
ClinGen gnomAD |
|
CA282308419 rs199498142 |
815 | A>V | No |
ClinGen 1000Genomes |
|
CA8105895 rs766724851 |
817 | F>L | No |
ClinGen ExAC gnomAD |
|
CA8105894 rs145700198 |
818 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396279022 rs1254418766 |
818 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs750037896 CA8105893 |
819 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282308398 rs767135405 |
824 | L>I | No |
ClinGen Ensembl |
|
CA396278846 rs1238484050 |
826 | A>V | No |
ClinGen gnomAD |
|
rs542514076 CA8105889 |
827 | V>L | No |
ClinGen ExAC gnomAD |
|
CA396278814 rs1391427441 |
828 | G>D | No |
ClinGen gnomAD |
|
rs1300626192 CA396278735 |
832 | N>S | No |
ClinGen gnomAD |
|
rs1314062683 CA396278717 |
833 | G>S | No |
ClinGen TOPMed |
|
CA8105887 rs762986161 |
834 | S>P | No |
ClinGen ExAC gnomAD |
|
rs201097013 CA282308310 |
836 | S>N | No |
ClinGen 1000Genomes |
|
CA8105873 rs750881597 |
837 | S>N | No |
ClinGen ExAC gnomAD |
|
CA8105872 rs767261910 |
838 | G>D | No |
ClinGen ExAC gnomAD |
|
CA396278418 rs1397835458 COSM194367 |
838 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs761603743 CA396278398 |
839 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105871 rs761603743 |
839 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751080567 CA8105870 |
840 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1567383866 CA396278326 |
842 | S>R | No |
ClinGen Ensembl |
|
CA8105869 rs763613073 |
845 | E>* | No |
ClinGen ExAC gnomAD |
|
CA282308281 rs926875447 |
846 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs982747750 CA282308275 |
846 | K>M | No |
ClinGen TOPMed gnomAD |
|
CA396278227 rs1597316103 |
846 | K>N | No |
ClinGen Ensembl |
|
rs1191788128 CA396278208 |
847 | V>A | No |
ClinGen gnomAD |
|
CA396278218 rs1375566713 |
847 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1207298615 CA396278101 |
850 | V>A | No |
ClinGen gnomAD |
|
rs775435349 CA8105867 |
850 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105866 rs765158746 |
852 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105865 rs759313072 |
853 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772252359 CA8105863 |
855 | R>C | No |
ClinGen ExAC gnomAD |
|
rs748331837 COSM972358 CA8105862 |
855 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs774576031 CA8105861 |
856 | R>* | No |
ClinGen ExAC gnomAD |
|
rs528427631 CA8105860 |
856 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1473529788 CA396277937 |
860 | L>P | No |
ClinGen TOPMed |
|
rs1473529788 CA396277939 |
860 | L>Q | No |
ClinGen TOPMed |
|
CA282308229 rs988348329 |
861 | H>R | No |
ClinGen TOPMed |
|
CA8105857 rs756633530 |
865 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746209224 CA8105856 |
867 | V>L | No |
ClinGen ExAC gnomAD |
|
CA396277720 rs757725556 |
869 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1373901784 CA396277732 |
869 | Q>K | No |
ClinGen gnomAD |
|
rs1195716658 CA396277730 |
869 | Q>R | No |
ClinGen gnomAD |
|
CA396277716 rs1454851535 |
870 | T>A | No |
ClinGen gnomAD |
|
CA396277695 rs1458619991 |
870 | T>I | No |
ClinGen TOPMed |
|
rs916106027 CA282308207 COSM137060 |
871 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA8105853 rs117505411 |
871 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8105852 rs763661503 |
874 | S>F | No |
ClinGen ExAC gnomAD |
|
rs953482783 CA282308203 |
874 | S>P | No |
ClinGen Ensembl |
|
CA623118698 rs1567383605 |
875 | S>* | No |
ClinGen Ensembl |
|
CA8105851 rs757925016 |
875 | S>F | No |
ClinGen ExAC |
|
rs1274501740 CA396277581 |
875 | S>T | No |
ClinGen gnomAD |
|
rs1196254564 CA396277512 |
877 | L>F | No |
ClinGen gnomAD |
|
rs1316899505 CA396277469 |
878 | Y>C | No |
ClinGen gnomAD |
|
CA8105850 rs146794927 |
879 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
rs1229291055 CA396277352 |
882 | P>R | No |
ClinGen gnomAD |
|
CA8105848 rs139818136 |
886 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105847 rs377382219 COSM3771985 |
886 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA396277198 rs1329368084 |
889 | K>* | No |
ClinGen TOPMed gnomAD |
|
rs1329368084 CA396277200 |
889 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA282307879 rs932053764 |
890 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs747381605 CA396276175 |
891 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747381605 CA8105816 |
891 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778039880 CA8105815 |
895 | L>P | No |
ClinGen ExAC gnomAD |
|
CA396276079 rs1354000540 |
895 | L>V | No |
ClinGen gnomAD |
|
CA8105814 rs150643297 |
897 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA282307868 rs976040730 |
897 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA396276008 rs1597315215 |
898 | N>T | No |
ClinGen Ensembl |
|
CA396276013 rs1401759543 |
898 | N>Y | No |
ClinGen gnomAD |
|
CA8105812 rs547019932 |
900 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs962042374 CA282307857 |
902 | L>M | No |
ClinGen gnomAD |
|
rs754416899 CA8105811 |
902 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1014894880 CA282307847 |
903 | E>D | No |
ClinGen TOPMed |
|
CA8105810 rs753412615 |
903 | E>K | No |
ClinGen ExAC gnomAD |
|
rs779953131 CA8105809 |
904 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1486481234 CA396275916 |
904 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs112730433 CA282307806 |
905 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8105807 rs112730433 |
905 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8105808 rs375713096 |
905 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767173203 CA8105806 |
906 | S>R | No |
ClinGen ExAC gnomAD |
|
rs752798062 CA8105804 |
907 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105805 rs761688398 |
907 | R>W | No |
ClinGen ExAC gnomAD |
|
rs765662304 CA8105803 |
909 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396275796 rs1294073309 |
909 | A>V | No |
ClinGen gnomAD |
|
CA8105801 rs776903658 |
910 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396275709 rs1347420143 |
912 | S>G | No |
ClinGen gnomAD |
|
CA8105797 rs147506405 |
914 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8105798 rs750103540 |
914 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282307747 rs891440219 |
916 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs891440219 CA396275574 |
916 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA282307743 rs1054133982 |
917 | A>S | No |
ClinGen Ensembl |
|
CA8105794 rs34590217 |
918 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs975398430 CA282307729 |
919 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs748769560 CA8105793 |
921 | L>P | No |
ClinGen ExAC gnomAD |
|
CA282307725 rs139347380 |
925 | L>V | No |
ClinGen ESP TOPMed |
|
rs755679813 CA8105791 |
926 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105790 rs750277750 |
926 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1468026208 CA396275201 |
928 | R>C | No |
ClinGen gnomAD |
|
rs781200583 CA8105789 COSM1378868 |
928 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA396275101 rs1397050571 |
931 | H>Y | No |
ClinGen TOPMed |
|
COSM3782973 rs563505509 CA8105786 |
932 | F>L | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA396275012 rs1272599096 |
932 | F>Y | No |
ClinGen gnomAD |
|
rs1364539149 CA396274957 |
934 | D>N | No |
ClinGen gnomAD |
|
CA282307698 rs1030769147 |
935 | Q>* | No |
ClinGen TOPMed gnomAD |
|
CA396274881 rs1440812557 |
935 | Q>L | No |
ClinGen gnomAD |
|
CA282307697 rs981924024 |
936 | C>R | No |
ClinGen TOPMed |
|
rs1372412602 CA396274840 |
936 | C>S | No |
ClinGen TOPMed gnomAD |
|
rs1372412602 CA396274843 |
936 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA396274817 rs1325969837 |
937 | A>V | No |
ClinGen gnomAD |
|
rs201732128 CA8105785 |
938 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8105784 rs754148641 |
938 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105783 rs766521087 |
939 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105782 rs143903337 |
939 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1189324533 CA396274753 |
940 | V>L | No |
ClinGen gnomAD |
|
rs768133756 CA8105779 |
942 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1253567084 CA396274690 |
942 | M>L | No |
ClinGen gnomAD |
|
CA8105780 rs773523134 |
942 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105778 rs111846078 |
944 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774055683 CA282307629 |
945 | I>M | No |
ClinGen Ensembl |
|
rs976114086 CA282307643 |
945 | I>V | No |
ClinGen gnomAD |
|
rs768265790 CA8105776 |
946 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768265790 CA396274559 |
946 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396274537 rs1597314806 |
947 | H>P | No |
ClinGen Ensembl |
|
CA396274522 rs1444543599 |
947 | H>Q | No |
ClinGen TOPMed |
|
CA396274505 rs1276907965 |
948 | R>C | No |
ClinGen gnomAD |
|
rs907847751 CA282307608 |
948 | R>H | No |
ClinGen gnomAD |
|
CA8105775 rs748898328 |
949 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8105773 rs769125781 |
949 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105774 rs769125781 |
949 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396274375 rs745452115 |
951 | C>* | No |
ClinGen ExAC gnomAD |
|
CA396274376 rs1442382673 |
951 | C>F | No |
ClinGen gnomAD |
|
rs1232294778 CA396273956 |
960 | Y>* | No |
ClinGen TOPMed gnomAD |
|
rs766454816 CA282307452 |
962 | G>D | No |
ClinGen Ensembl |
|
rs764765882 CA8105737 |
962 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1380335517 CA396273887 |
964 | T>N | No |
ClinGen TOPMed gnomAD |
|
rs140269091 CA8105735 |
965 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773281297 CA8105733 |
967 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105732 rs773281297 |
967 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs190207170 CA8105731 |
967 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1469368619 CA396273834 |
968 | A>D | No |
ClinGen gnomAD |
|
rs778804997 CA8105729 |
969 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105728 rs768363225 |
969 | R>H | No |
ClinGen ExAC gnomAD |
|
rs746053817 CA8105727 |
970 | E>K | No |
ClinGen ExAC gnomAD |
|
rs781283797 CA8105726 |
971 | V>L | No |
ClinGen ExAC gnomAD |
|
rs751703092 CA8105724 |
972 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138705012 CA8105723 |
972 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396273767 rs530863029 |
973 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8105722 rs530863029 |
973 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396273749 rs1307321947 |
974 | M>I | No |
ClinGen gnomAD |
|
rs367934888 CA8105721 |
974 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
rs763650649 CA282307367 |
974 | M>R | No |
ClinGen Ensembl |
|
CA396273757 rs367934888 |
974 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
rs144753004 CA8105720 |
977 | C>W | No |
ClinGen ESP ExAC gnomAD |
|
rs759835715 CA8105719 |
978 | H>D | No |
ClinGen ExAC gnomAD |
|
CA8105718 rs762980260 |
978 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396273720 rs759835715 |
978 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs766205021 CA396273697 |
979 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105717 rs766205021 |
979 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766205021 CA396273695 |
979 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105715 rs772896045 COSM471932 |
980 | L>P | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA8105713 rs569958308 |
981 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs569958308 CA8105714 |
981 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs200317614 CA8105712 |
982 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396273626 rs1159569968 |
984 | A>T | No |
ClinGen TOPMed |
|
CA8105710 rs749039758 |
984 | A>V | No |
ClinGen ExAC gnomAD |
|
CA396273600 rs1567382165 |
986 | E>Q | No |
ClinGen Ensembl |
|
rs373944685 CA8105708 |
987 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396273579 rs1457644301 |
987 | Y>H | No |
ClinGen TOPMed |
|
rs747061959 CA8105707 |
988 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777791137 CA8105706 |
989 | T>I | No |
ClinGen ExAC gnomAD |
|
rs779295641 CA8105703 |
991 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8105704 rs116268850 |
991 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1193390972 CA396273478 |
993 | R>* | No |
ClinGen Ensembl |
|
rs1338388632 CA396273476 |
993 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA282307299 rs951567787 |
996 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs766104188 CA8105699 |
1000 | K>M | No |
ClinGen ExAC gnomAD |
|
CA8105698 rs755869068 |
1001 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs775224846 CA8105697 |
1002 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775224846 CA8105696 |
1002 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282307248 rs998356242 |
1004 | Y>H | No |
ClinGen TOPMed gnomAD |
|
CA8105694 rs769648476 |
1005 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282307235 rs769648476 |
1005 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA282307223 rs1039772478 |
1005 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs769648476 CA8105693 |
1005 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105691 rs775305958 |
1007 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8105690 rs769610007 |
1007 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747184984 CA8105689 |
1008 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1567382001 CA396273277 |
1009 | K>Q | No |
ClinGen Ensembl |
|
CA396273261 rs1436846845 |
1011 | R>Q | No |
ClinGen gnomAD |
|
CA396273257 rs1249481021 |
1012 | G>R | No |
ClinGen TOPMed |
|
rs1206941866 CA396273250 |
1013 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA8105687 rs773436492 |
1013 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772076551 CA8105686 |
1014 | M>T | No |
ClinGen ExAC gnomAD |
|
CA8105685 rs559455218 |
1016 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8105683 COSM123170 rs755490026 |
1017 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs751257468 CA8105657 |
1018 | T>A | No |
ClinGen ExAC gnomAD |
|
CA396273207 rs1245120239 |
1018 | T>I | No |
ClinGen TOPMed |
|
CA282307097 rs996408352 |
1019 | E>* | No |
ClinGen gnomAD |
|
rs1447553534 CA8105654 |
1019 | E>D | No |
ClinGen gnomAD |
|
rs373077110 CA8105656 |
1019 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373077110 CA282307087 |
1019 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA282307068 rs990689517 |
1022 | S>* | No |
ClinGen TOPMed |
|
CA396273182 rs1412104945 |
1022 | S>A | No |
ClinGen TOPMed |
|
CA282307067 rs867548759 |
1023 | G>D | No |
ClinGen gnomAD |
|
CA396273175 rs867548759 |
1023 | G>V | No |
ClinGen gnomAD |
|
CA8105652 rs752564255 |
1025 | A>D | No |
ClinGen ExAC gnomAD |
|
CA396273164 rs752564255 |
1025 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8105651 rs765229597 |
1026 | G>E | No |
ClinGen ExAC |
|
rs759317021 CA8105649 |
1027 | E>G | No |
ClinGen ExAC gnomAD |
|
rs767751100 CA8105647 |
1028 | A>D | No |
ClinGen ExAC TOPMed |
|
rs767751100 CA8105648 |
1028 | A>G | No |
ClinGen ExAC TOPMed |
|
rs1432109802 CA396273143 |
1029 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1040516891 CA282307046 |
1029 | P>S | No |
ClinGen Ensembl |
|
CA396273128 rs1339110864 |
1031 | N>T | No |
ClinGen TOPMed |
|
rs1383053363 CA396273110 |
1032 | P>L | No |
ClinGen TOPMed |
|
rs557236288 CA8105645 |
1032 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8105644 rs146514223 |
1034 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA282307031 rs146514223 |
1034 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA282307018 rs146514223 |
1034 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763128197 CA396273073 |
1036 | V>I | No |
ClinGen ExAC gnomAD |
|
rs763128197 CA8105642 |
1036 | V>L | No |
ClinGen ExAC gnomAD |
|
CA396273029 rs1363514595 |
1037 | A>V | No |
ClinGen TOPMed |
|
CA282306980 rs908962749 |
1038 | V>A | No |
ClinGen TOPMed |
|
rs886507546 CA282306993 |
1038 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA8105641 rs776135636 |
1040 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1049123335 CA282306971 |
1040 | S>N | No |
ClinGen Ensembl |
|
CA282306968 rs546547630 |
1040 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105639 rs577832197 |
1041 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8105638 rs781372321 |
1042 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1253805819 CA396272905 |
1043 | G>D | No |
ClinGen gnomAD |
|
CA282306959 rs983111425 |
1043 | G>S | No |
ClinGen TOPMed |
|
CA8105636 rs746584932 |
1044 | R>Q | No |
ClinGen ExAC TOPMed |
|
rs373710737 CA8105637 |
1044 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1374616921 CA396272887 |
1045 | G>V | No |
ClinGen gnomAD |
|
rs1215538499 CA396272853 |
1047 | A>G | No |
ClinGen gnomAD |
|
rs1301925038 CA396272816 |
1049 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1231378117 CA396272754 |
1051 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs1231378117 CA396272747 |
1051 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8105634 rs757844941 |
1052 | S>N | No |
ClinGen ExAC gnomAD |
|
CA396272696 rs1456358265 |
1053 | M>I | No |
ClinGen TOPMed |
|
rs376653596 CA8105632 |
1053 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105633 rs142647972 |
1053 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396272634 rs1436168158 |
1056 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs1395256688 CA396272616 |
1057 | L>P | No |
ClinGen gnomAD |
|
CA8105631 rs754951818 |
1058 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396272595 rs1430735204 |
1058 | T>I | No |
ClinGen TOPMed |
|
CA396272584 rs1273744400 |
1059 | S>N | No |
ClinGen TOPMed |
|
rs1365394272 CA396272564 |
1060 | R>K | No |
ClinGen TOPMed |
|
rs753800789 CA282306926 |
1061 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753800789 CA8105630 |
1061 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1180504194 CA396272524 |
1062 | E>K | No |
ClinGen gnomAD |
|
rs760527651 CA396272495 |
1063 | D>E | No |
ClinGen ExAC gnomAD |
|
CA8105629 rs766037000 |
1063 | D>N | No |
ClinGen ExAC gnomAD |
|
CA282306904 rs1018830041 |
1065 | T>I | No |
ClinGen TOPMed |
|
rs1027949280 CA282306899 |
1066 | H>N | No |
ClinGen Ensembl |
|
CA396272427 rs1597313264 |
1067 | N>S | No |
ClinGen Ensembl |
|
rs1007067939 CA282306898 |
1067 | N>Y | No |
ClinGen TOPMed gnomAD |
|
CA8105626 rs369591941 |
1068 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105625 rs763111646 |
1068 | R>H | No |
ClinGen ExAC gnomAD |
|
CA8105624 rs775759444 COSM1252433 |
1069 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA8105623 rs145161451 |
1069 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1210758389 CA396272385 |
1070 | S>G | No |
ClinGen gnomAD |
|
rs759693508 CA8105602 |
1073 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1352014880 CA396272274 |
1073 | M>V | No |
ClinGen gnomAD |
|
rs777000933 CA8105601 |
1074 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375544264 CA8105600 |
1075 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1224580764 CA396272154 |
1079 | P>R | No |
ClinGen TOPMed |
|
rs1304538370 CA396272160 |
1079 | P>S | No |
ClinGen gnomAD |
|
CA282306798 rs555521387 |
1080 | I>T | No |
ClinGen 1000Genomes TOPMed |
|
rs773670831 CA8105598 |
1080 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105597 rs747207376 |
1081 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396272124 rs1459008134 |
1081 | M>T | No |
ClinGen gnomAD |
|
CA8105596 rs747207376 |
1081 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105595 rs774001965 |
1084 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235031666 CA396270321 |
1087 | S>P | No |
ClinGen TOPMed |
|
rs372458150 CA8105594 |
1089 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
CA282306777 rs994894216 |
1091 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs748893339 CA8105593 |
1092 | E>* | No |
ClinGen ExAC gnomAD |
|
rs1485847943 CA396270178 |
1093 | E>A | No |
ClinGen gnomAD |
|
CA8105591 rs756124197 |
1094 | P>L | No |
ClinGen ExAC gnomAD |
|
rs202229073 CA8105592 |
1094 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs570015015 CA8105590 |
1095 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396270027 rs1436308195 |
1099 | L>* | No |
ClinGen gnomAD |
|
CA282306754 rs771797116 |
1100 | P>S | No |
ClinGen Ensembl |
|
CA396269993 rs1425963581 |
1101 | S>G | No |
ClinGen TOPMed |
|
CA8105589 rs781092903 |
1101 | S>T | No |
ClinGen ExAC gnomAD |
|
CA396269904 rs1232404830 |
1103 | T>I | No |
ClinGen gnomAD |
|
CA396269829 rs1369814018 |
1106 | E>G | No |
ClinGen TOPMed |
|
rs1380453437 CA396269810 |
1107 | I>V | No |
ClinGen gnomAD |
|
CA8105588 rs757132766 |
1108 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396269759 rs1321235583 |
1109 | D>N | No |
ClinGen gnomAD |
|
CA8105587 rs752899995 |
1110 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105585 rs755096285 |
1111 | L>P | No |
ClinGen ExAC gnomAD |
|
rs754002414 CA8105584 |
1114 | S>* | No |
ClinGen ExAC gnomAD |
|
rs761208251 CA8105582 |
1117 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1428384716 CA396269472 |
1118 | S>R | No |
ClinGen gnomAD |
|
rs1283776200 CA396269435 |
1119 | S>R | No |
ClinGen TOPMed |
|
CA396269424 rs1391333943 |
1120 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA396269431 rs1391333943 |
1120 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA396269414 rs1260057612 |
1121 | R>C | No |
ClinGen TOPMed |
|
rs551708643 CA8105580 |
1121 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396269383 rs1465882587 |
1123 | L>S | No |
ClinGen gnomAD |
|
CA282306679 rs941911219 |
1125 | A>T | No |
ClinGen TOPMed |
|
CA396269332 rs1212648190 |
1126 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs767808985 CA8105579 |
1128 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1224984485 CA396269249 |
1129 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA8105576 rs539707576 |
1130 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM4141838 rs762346925 CA8105575 |
1130 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs775105803 CA8105574 |
1132 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775105803 CA396269165 |
1132 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105573 rs777850281 |
1132 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1052999923 CA282306622 |
1133 | G>D | No |
ClinGen gnomAD |
|
COSM1235627 rs758366092 CA8105571 |
1133 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1052999923 CA396269135 |
1133 | G>V | No |
ClinGen gnomAD |
|
COSM972354 rs770847586 CA8105570 |
1135 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs746859450 CA8105569 |
1135 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396269092 rs746859450 |
1135 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396269047 rs1257374208 |
1137 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA8105558 rs763703372 |
1140 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8105557 rs762626115 |
1141 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1466130979 CA396268722 |
1144 | S>R | No |
ClinGen gnomAD |
|
rs1247054323 CA396268700 |
1145 | G>A | No |
ClinGen TOPMed |
|
rs376778624 CA8105552 |
1147 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105553 rs376778624 |
1147 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105551 rs771041970 |
1148 | D>N | No |
ClinGen ExAC gnomAD |
|
CA396268594 rs1239796547 |
1149 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA8105550 rs746773202 |
1150 | L>V | No |
ClinGen ExAC gnomAD |
|
rs777674042 CA8105549 |
1153 | A>V | No |
ClinGen ExAC gnomAD |
|
rs144815381 CA8105548 |
1154 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8105547 rs749473379 |
1154 | L>P | No |
ClinGen ExAC gnomAD |
|
CA396268456 rs1201063436 |
1155 | G>E | No |
ClinGen gnomAD |
|
rs750557765 CA8105544 |
1157 | S>G | No |
ClinGen ExAC gnomAD |
|
CA8105543 rs750557765 |
1157 | S>R | No |
ClinGen ExAC gnomAD |
|
rs781646540 CA8105542 |
1158 | K>R | No |
ClinGen ExAC gnomAD |
|
CA396268334 rs1408075460 |
1160 | P>T | No |
ClinGen TOPMed |
|
rs757800624 CA8105541 |
1161 | G>S | No |
ClinGen ExAC gnomAD |
|
rs752089928 CA8105540 |
1164 | V>A | No |
ClinGen ExAC gnomAD |
|
CA396268226 rs1337583326 |
1164 | V>M | No |
ClinGen TOPMed |
No associated diseases with Q9Y613
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR45920 | FORMIN HOMOLOGY 2 DOMAIN CONTAINING, ISOFORM I |
PANTHER Subfamily | PTHR45920:SF2 | FH1_FH2 DOMAIN-CONTAINING PROTEIN 1 |
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
8 GO annotations of cellular component
Name | Definition |
---|---|
bleb | A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. [GOC:mtg_apoptosis, PMID:12083798, PMID:16624291, Wikipedia:Bleb_(cell_biology)] |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
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. |
intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
Name | Definition |
---|---|
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
identical protein binding | Binding to an identical protein or proteins. |
protein domain specific binding | Binding to a specific domain of a protein. |
protein self-association | Binding to a domain within the same polypeptide. |
7 GO annotations of biological process
Name | Definition |
---|---|
actin filament network formation | The assembly of a network of actin filaments; actin filaments on different axes and with differing orientations are crosslinked together to form a mesh of filaments. |
cortical 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 actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
establishment of centrosome localization | The directed movement of the centrosome to a specific location. |
nuclear migration | The directed movement of the nucleus to a specific location within a cell. |
positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
regulation of stress fiber assembly | Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
3 homologous proteins in AiPD
10 | 20 | 30 | 40 | 50 | 60 |
MAGGEDRGDG | EPVSVVTVRV | QYLEDTDPFA | CANFPEPRRA | PTCSLDGALP | LGAQIPAVHR |
70 | 80 | 90 | 100 | 110 | 120 |
LLGAPLKLED | CALQVSPSGY | YLDTELSLEE | QREMLEGFYE | EISKGRKPTL | ILRTQLSVRV |
130 | 140 | 150 | 160 | 170 | 180 |
NAILEKLYSS | SGPELRRSLF | SLKQIFQEDK | DLVPEFVHSE | GLSCLIRVGA | AADHNYQSYI |
190 | 200 | 210 | 220 | 230 | 240 |
LRALGQLMLF | VDGMLGVVAH | SDTIQWLYTL | CASLSRLVVK | TALKLLLVFV | EYSENNAPLF |
250 | 260 | 270 | 280 | 290 | 300 |
IRAVNSVAST | TGAPPWANLV | SILEEKNGAD | PELLVYTVTL | INKTLAALPD | QDSFYDVTDA |
310 | 320 | 330 | 340 | 350 | 360 |
LEQQGMEALV | QRHLGTAGTD | VDLRTQLVLY | ENALKLEDGD | IEEAPGAGGR | RERRKPSSEE |
370 | 380 | 390 | 400 | 410 | 420 |
GKRSRRSLEG | GGCPARAPEP | GPTGPASPVG | PTSSTGPALL | TGPASSPVGP | PSGLQASVNL |
430 | 440 | 450 | 460 | 470 | 480 |
FPTISVAPSA | DTSSERSIYK | ARFLENVAAA | ETEKQVALAQ | GRAETLAGAM | PNEAGGHPDA |
490 | 500 | 510 | 520 | 530 | 540 |
RQLWDSPETA | PAARTPQSPA | PCVLLRAQRS | LAPEPKEPLI | PASPKAEPIW | ELPTRAPRLS |
550 | 560 | 570 | 580 | 590 | 600 |
IGDLDFSDLG | EDEDQDMLNV | ESVEAGKDIP | APSPPLPLLS | GVPPPPPLPP | PPPIKGPFPP |
610 | 620 | 630 | 640 | 650 | 660 |
PPPLPLAAPL | PHSVPDSSAL | PTKRKTVKLF | WRELKLAGGH | GVSASRFGPC | ATLWASLDPV |
670 | 680 | 690 | 700 | 710 | 720 |
SVDTARLEHL | FESRAKEVLP | SKKAGEGRRT | MTTVLDPKRS | NAINIGLTTL | PPVHVIKAAL |
730 | 740 | 750 | 760 | 770 | 780 |
LNFDEFAVSK | DGIEKLLTMM | PTEEERQKIE | EAQLANPDIP | LGPAENFLMT | LASIGGLAAR |
790 | 800 | 810 | 820 | 830 | 840 |
LQLWAFKLDY | DSMEREIAEP | LFDLKVGMEQ | LVQNATFRCI | LATLLAVGNF | LNGSQSSGFE |
850 | 860 | 870 | 880 | 890 | 900 |
LSYLEKVSEV | KDTVRRQSLL | HHLCSLVLQT | RPESSDLYSE | IPALTRCAKV | DFEQLTENLG |
910 | 920 | 930 | 940 | 950 | 960 |
QLERRSRAAE | ESLRSLAKHE | LAPALRARLT | HFLDQCARRV | AMLRIVHRRV | CNRFHAFLLY |
970 | 980 | 990 | 1000 | 1010 | 1020 |
LGYTPQAARE | VRIMQFCHTL | REFALEYRTC | RERVLQQQQK | QATYRERNKT | RGRMITETEK |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
FSGVAGEAPS | NPSVPVAVSS | GPGRGDADSH | ASMKSLLTSR | PEDTTHNRRS | RGMVQSSSPI |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
MPTVGPSTAS | PEEPPGSSLP | SDTSDEIMDL | LVQSVTKSSP | RALAARERKR | SRGNRKSLRR |
1150 | 1160 | ||||
TLKSGLGDDL | VQALGLSKGP | GLEV |