O94887
SS
Gene name |
FARP2 (KIAA0793, PLEKHC3) |
Protein name |
FERM, ARHGEF and pleckstrin domain-containing protein 2 |
Names |
FERM domain-including RhoGEF, FIR, FERM, RhoGEF and pleckstrin domain-containing protein 2, Pleckstrin homology domain-containing family C member 3, PH domain-containing family C member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9855 |
EC number |
|
Protein Class |
|
Descriptions
FARP2 is a Dbl-family quinine nucleotide exchange factor (GEF) that contains a 4.1, ezrin, radixin and moesin (FERM) domain, a Dbl-homology (DH) domain and two pleckstrin homology (PH) domains. FARP2 activates Rac1 or Cdc42 in response to upstream signals, thereby regulating neuronal axon guidance and bone homeostasis. 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 |
535-726 (DH domain) |
Relief mechanism |
PTM |
Assay |
|
Target domain |
535-726 (DH domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O94887
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O94887-F1 | Predicted | AlphaFoldDB |
970 variants for O94887
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA351361745 rs1411531692 |
2 | G>R | No |
ClinGen gnomAD |
|
|
CA351361748 rs1411531692 |
2 | G>W | No |
ClinGen gnomAD |
|
|
CA351361767 rs1575465533 |
3 | E>G | No |
ClinGen Ensembl |
|
|
CA351361791 rs1219961959 |
5 | E>K | No |
ClinGen gnomAD |
|
|
rs758712076 CA2217607 |
7 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1349080453 CA540754912 |
8 | Y>* | No |
ClinGen gnomAD |
|
|
CA68514237 rs1021151005 |
10 | V>A | No |
ClinGen Ensembl |
|
|
CA68514251 rs1037526128 |
12 | Q>K | No |
ClinGen TOPMed |
|
|
CA351361965 rs1476726917 |
15 | G>R | No |
ClinGen gnomAD |
|
|
rs375264796 CA2217611 |
17 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2217612 rs61739702 |
17 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2217613 rs149811606 |
18 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2217615 rs775245402 |
20 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762876892 CA2217616 |
21 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142064281 CA2217617 |
23 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542172960 RCV000895781 CA2217618 |
24 | V>A | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1271175517 CA351362154 |
26 | V>I | No |
ClinGen gnomAD |
|
|
CA2217619 rs372859965 |
27 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA351362230 rs1227128190 |
29 | L>I | No |
ClinGen gnomAD |
|
|
CA351362253 rs1253871920 |
30 | E>D | No |
ClinGen TOPMed |
|
|
rs767074719 CA2217620 |
30 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2217621 RCV000893273 rs147738223 |
32 | G>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA351362268 rs1210326813 |
32 | G>R | No |
ClinGen TOPMed |
|
|
rs760046260 CA2217622 |
33 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765795308 CA2217623 |
35 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753162768 CA2217624 |
35 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780139851 CA2217626 |
36 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351362381 rs1338023169 |
38 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781200124 CA351362407 |
39 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2217629 rs781200124 |
39 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs757563320 CA2217628 |
39 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2217630 rs745970154 |
43 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150312458 CA2217633 |
45 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351362475 rs1381347688 |
45 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV000879519 rs150312458 CA2217632 |
45 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2217631 rs61739735 RCV000950096 |
45 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2217634 rs768704929 |
46 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774356644 CA2217635 |
53 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1248801603 CA351362565 |
54 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2217638 rs771771150 |
55 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217637 rs771771150 |
55 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217639 rs149449652 |
58 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149449652 CA351362609 |
58 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2217640 rs765844978 |
59 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217641 rs753323048 |
60 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351362653 rs1448526567 |
61 | E>V | No |
ClinGen gnomAD |
|
|
CA2217663 rs774788405 |
62 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs767823136 CA2217665 |
63 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68539313 rs373166358 |
63 | K>R | No |
ClinGen ESP |
|
|
rs766643383 CA351369440 |
64 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs756361784 CA2217667 |
64 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs190860431 CA2217670 |
65 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2217669 rs376103597 |
65 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs190860431 CA351369458 |
65 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2217672 rs748074888 |
67 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2217674 rs777486994 |
68 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777486994 CA2217675 |
68 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210780500 CA351369625 |
69 | L>S | No |
ClinGen TOPMed |
|
|
CA68539420 rs78727436 |
71 | T>I | No |
ClinGen Ensembl |
|
|
rs78727436 CA68539402 |
71 | T>R | No |
ClinGen Ensembl |
|
|
rs745402014 CA2217678 |
72 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271252357 COSM1186180 CA351369700 |
73 | V>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2217679 rs556967504 |
73 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263890103 CA351369758 |
75 | K>E | No |
ClinGen TOPMed |
|
|
rs762289746 COSM1018955 CA2217681 |
76 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs977659483 CA68539458 |
76 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2217683 rs267599296 |
79 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217684 rs141878745 |
80 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141878745 CA68539468 |
80 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA68539469 rs944032732 |
82 | C>Y | No |
ClinGen TOPMed |
|
|
CA351369922 rs1481633371 |
84 | Y>* | No |
ClinGen gnomAD |
|
|
CA351369915 rs1429475083 |
84 | Y>C | No |
ClinGen gnomAD |
|
|
CA2217686 rs754074961 |
86 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351369963 rs754074961 |
86 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462985228 CA351369973 |
86 | G>V | No |
ClinGen gnomAD |
|
|
CA68539511 rs921331761 |
92 | T>S | No |
ClinGen Ensembl |
|
|
CA68539522 COSM1692265 rs200802062 |
93 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2217688 RCV000943239 rs200802062 |
93 | Q>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs752808706 CA2217689 |
94 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2217690 rs758333328 |
95 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA2217691 rs777695981 |
96 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs751321156 COSM1531613 CA2217692 |
96 | W>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA351370472 rs1348876942 |
97 | I>M | No |
ClinGen TOPMed |
|
|
CA2217717 rs376215581 |
98 | W>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351370536 rs1315593179 |
100 | E>K | No |
ClinGen gnomAD |
|
|
CA2217718 rs747566511 |
101 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380712599 CA351370590 |
101 | P>S | No |
ClinGen gnomAD |
|
|
rs943898309 CA68540229 |
102 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA68540233 rs952995709 |
103 | K>E | No |
ClinGen Ensembl |
|
|
rs1210171253 CA351370673 |
103 | K>T | No |
ClinGen gnomAD |
|
|
CA68540239 rs140746147 |
104 | P>H | No |
ClinGen 1000Genomes |
|
|
CA351370678 rs1437250808 |
104 | P>T | No |
ClinGen TOPMed |
|
|
CA68540245 rs1005484381 |
105 | I>M | No |
ClinGen TOPMed |
|
|
rs139350501 CA68540260 |
110 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777202097 CA2217720 |
110 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777202097 CA68540265 |
110 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68543156 rs139318378 |
113 | K>N | No |
ClinGen ESP |
|
|
CA351372166 rs1377886086 |
113 | K>Q | No |
ClinGen TOPMed |
|
|
rs757842345 CA2217740 |
114 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351372188 rs781741503 |
115 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2217741 rs781741503 |
115 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA351372207 rs1428784868 |
116 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351372199 rs1428784868 |
116 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351372259 rs1176974527 COSM210642 |
118 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs199738844 CA2217742 |
118 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA68543190 rs201646916 |
121 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA351372311 rs1328043061 |
122 | K>E | No |
ClinGen gnomAD |
|
|
rs1354644724 CA351372325 |
122 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2217743 rs770152111 |
125 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217745 rs749571489 |
128 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478521805 CA351372426 |
128 | P>T | No |
ClinGen Ensembl |
|
|
rs768757861 CA2217746 |
130 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217747 rs774421263 |
131 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351372573 rs1214528876 |
135 | Y>N | No |
ClinGen gnomAD |
|
|
rs773094525 CA2217750 |
136 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999989261 CA68543257 |
136 | T>I | No |
ClinGen TOPMed |
|
|
CA68543269 rs770206768 |
137 | R>G | No |
ClinGen Ensembl |
|
|
CA2217765 rs748258418 |
138 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351373607 rs1384099620 |
141 | A>V | No |
ClinGen gnomAD |
|
|
rs1389732810 CA351373626 |
143 | Q>R | No |
ClinGen TOPMed |
|
|
CA2217768 rs367697981 |
144 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2217769 rs766220887 |
144 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2217770 rs145630727 |
145 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351373670 rs1391258573 |
145 | K>N | No |
ClinGen gnomAD |
|
|
CA2217771 rs759194109 |
146 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs765004140 CA2217772 |
147 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs762659865 CA2217774 |
152 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2217775 rs746413738 |
152 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217776 rs751018109 |
154 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756651965 CA2217777 |
155 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351373839 rs1559744402 |
157 | D>N | No |
ClinGen Ensembl |
|
|
rs1559744414 CA351373872 |
160 | A>T | No |
ClinGen Ensembl |
|
|
CA68546061 rs555590124 COSM1565632 |
160 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
|
CA351373912 rs1205543960 |
163 | L>H | No |
ClinGen TOPMed |
|
|
CA2217780 rs756545178 |
164 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2217781 rs147959368 |
164 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351373962 rs1270404541 |
167 | L>F | No |
ClinGen TOPMed |
|
|
CA2217804 rs143775411 |
170 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143775411 CA2217803 |
170 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2217806 rs781297484 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2217808 rs745839138 |
173 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574771917 CA351374803 |
174 | D>N | No |
ClinGen Ensembl |
|
|
rs999561525 CA68547805 |
174 | D>V | No |
ClinGen TOPMed |
|
|
CA2217810 rs775489798 |
175 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217811 rs762780700 |
176 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs201790803 CA351374919 |
178 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2217812 rs201790803 |
178 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761500332 CA2217814 |
179 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766985213 CA2217815 |
180 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs772766165 CA2217816 |
181 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs760103920 CA2217817 |
181 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765663592 CA2217818 |
182 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA351374998 rs1430924018 |
182 | E>Q | No |
ClinGen gnomAD |
|
|
CA2217821 rs16843643 VAR_048363 |
185 | K>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA351375081 rs1424280957 |
185 | K>R | No |
ClinGen gnomAD |
|
|
CA351375090 rs1235851583 |
186 | V>M | No |
ClinGen TOPMed |
|
|
CA351375136 rs185331144 |
188 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1325825298 CA351375144 |
188 | E>D | No |
ClinGen gnomAD |
|
|
rs185331144 CA2217823 |
188 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375137475 CA2217824 |
191 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2217826 rs148530431 |
191 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148530431 CA2217825 |
191 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370174433 CA68547880 |
193 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA351375254 rs1430651687 |
194 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA351375270 rs1221280769 |
194 | Q>R | No |
ClinGen gnomAD |
|
|
rs780093347 CA2217827 |
196 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2217829 rs768612869 |
197 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2217830 rs774178637 |
199 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs900269041 CA68547898 |
200 | I>V | No |
ClinGen Ensembl |
|
|
CA2217832 rs190915431 |
201 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351375460 rs1383468198 |
202 | E>* | No |
ClinGen gnomAD |
|
|
CA351375463 rs1444045866 |
202 | E>G | No |
ClinGen gnomAD |
|
|
rs772605234 CA2217834 |
204 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2217835 rs760118073 |
205 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217836 rs765753246 |
205 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763415455 CA351375738 |
208 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763415455 CA2217838 |
208 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772799362 CA2217852 |
209 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1412201404 CA351377105 |
209 | G>S | No |
ClinGen TOPMed |
|
|
CA351377127 rs1252927321 |
210 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs147242846 CA2217853 |
211 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351377156 rs1230679991 |
212 | P>A | No |
ClinGen gnomAD |
|
|
rs931163914 CA68552321 |
213 | A>S | No |
ClinGen Ensembl |
|
|
rs770463969 CA2217854 |
214 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs776097072 CA2217855 |
215 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351377249 rs1208924167 |
218 | Q>R | No |
ClinGen gnomAD |
|
|
rs1464298449 CA351377275 |
219 | V>A | No |
ClinGen TOPMed |
|
|
rs1176867578 CA351377284 |
220 | L>F | No |
ClinGen gnomAD |
|
|
rs774582808 CA2217858 |
221 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs939962822 CA68552337 |
222 | I>T | No |
ClinGen TOPMed |
|
|
CA2217859 rs762190880 |
224 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2217860 rs550062112 |
224 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750716049 CA2217861 |
228 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766629102 CA2217863 |
230 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753966346 CA2217864 |
230 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA351377498 rs1350771685 |
232 | R>K | No |
ClinGen gnomAD |
|
|
CA2217866 rs377510075 |
235 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2217865 rs373775235 |
235 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752454708 CA2217867 |
237 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2217868 rs758168372 |
241 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA351377636 rs1428500377 |
242 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2217869 rs369631756 |
243 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746708986 CA2217870 |
245 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA68552434 rs748738286 |
246 | L>V | No |
ClinGen Ensembl |
|
|
CA351377766 rs770557661 |
249 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2217871 rs770557661 |
249 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1477552736 CA351377783 |
250 | H>L | No |
ClinGen gnomAD |
|
|
CA2217872 rs780746645 |
250 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1427247874 CA351377792 |
251 | M>L | No |
ClinGen gnomAD |
|
|
rs745308361 CA2217873 |
252 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs111926246 CA68552458 |
253 | V>A | No |
ClinGen Ensembl |
|
|
CA2217874 rs144620628 |
253 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs571522756 CA2217875 |
254 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1431269086 CA351377871 |
254 | L>H | No |
ClinGen gnomAD |
|
|
rs1042074629 CA351377886 |
255 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA68552508 rs1042074629 |
255 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759480417 CA2217876 |
256 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA351370058 rs1222756379 |
258 | G>D | No |
ClinGen gnomAD |
|
|
rs1367371335 CA351370071 |
259 | T>A | No |
ClinGen gnomAD |
|
|
rs1472931922 CA351370085 |
259 | T>S | No |
ClinGen gnomAD |
|
|
rs757978 VAR_048364 CA2217898 |
260 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757978 CA2217899 |
260 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2217904 rs759643397 |
262 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs776871124 CA2217903 |
262 | I>V | No |
ClinGen ExAC |
|
|
CA68510310 rs1012419064 |
263 | N>D | No |
ClinGen Ensembl |
|
|
CA2217905 rs765404341 |
263 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68510331 rs1003492840 |
264 | T>I | No |
ClinGen TOPMed |
|
|
rs185323681 RCV000942622 CA2217906 |
265 | F>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1191039735 CA351370316 |
266 | N>D | No |
ClinGen TOPMed |
|
|
CA2217908 rs763952506 |
266 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559762780 CA351370345 |
267 | W>G | No |
ClinGen Ensembl |
|
|
rs1470764645 CA351370370 |
268 | S>C | No |
ClinGen TOPMed |
|
|
CA351370360 rs1450470746 |
268 | S>T | No |
ClinGen gnomAD |
|
|
rs999725246 CA68510365 |
270 | V>A | No |
ClinGen Ensembl |
|
|
rs200690696 CA2217910 |
270 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2217912 rs751771407 |
271 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201901351 CA2217913 |
271 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1198645103 CA351370485 |
272 | K>E | No |
ClinGen gnomAD |
|
|
CA2217914 rs779682293 |
276 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300961479 CA351370664 |
277 | R>G | No |
ClinGen TOPMed |
|
|
rs921943927 CA68510380 |
281 | L>R | No |
ClinGen Ensembl |
|
|
CA2217916 rs567586612 |
282 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472043727 CA351370860 |
282 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778378417 CA2217917 |
283 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747406898 CA2217919 |
283 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2217918 rs747406898 |
283 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351370911 rs747406898 |
283 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM720849 rs1172435178 CA351370947 |
285 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2217920 rs776834588 |
287 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1397807838 CA351371055 |
288 | V>I | No |
ClinGen gnomAD |
|
|
rs370388089 CA2217946 |
291 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344873828 CA351372752 |
293 | Q>R | No |
ClinGen TOPMed |
|
|
CA2217950 rs770068341 |
294 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA351372836 rs1300300373 |
298 | F>L | No |
ClinGen gnomAD |
|
|
rs1382195964 CA351372853 |
299 | L>V | No |
ClinGen TOPMed |
|
|
rs1283091430 CA540755016 |
300 | L>* | No |
ClinGen gnomAD |
|
|
CA2217953 rs749399579 |
301 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2217954 rs768773220 |
301 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190366874 CA351372927 |
302 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753632692 CA2217955 |
302 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567787921 CA68512893 |
305 | E>A | No |
ClinGen Ensembl |
|
|
CA351373022 rs1276271623 |
306 | C>G | No |
ClinGen gnomAD |
|
|
CA351373043 rs1574816762 |
307 | K>* | No |
ClinGen Ensembl |
|
|
CA2217957 rs771838175 |
309 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2217959 rs760342483 |
310 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2217958 rs773075846 |
310 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs766090497 CA2217960 |
311 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs753588085 CA2217961 |
312 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1450114506 CA351373190 |
314 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351373184 rs1450114506 |
314 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351373243 rs1170546245 |
316 | Y>H | No |
ClinGen gnomAD |
|
|
CA2217963 rs764893994 |
320 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA68512919 rs368343781 |
321 | R>T | No |
ClinGen ESP |
|
|
rs1292786725 CA351373392 |
322 | L>F | No |
ClinGen gnomAD |
|
|
CA68512932 rs942261253 |
325 | Q>R | No |
ClinGen TOPMed |
|
|
CA351373469 rs1391111900 |
326 | P>L | No |
ClinGen gnomAD |
|
|
CA68512936 rs1038687146 |
326 | P>S | No |
ClinGen TOPMed |
|
|
CA2217966 rs781494582 |
330 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs878978115 CA351373573 |
333 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs878978115 CA2217968 |
333 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs145270312 CA2217971 |
337 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2217970 rs372818608 |
337 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2217972 rs749572946 |
338 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351373673 rs1243590278 |
338 | G>C | No |
ClinGen gnomAD |
|
|
CA351373675 rs749572946 |
338 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351373679 rs749572946 |
338 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351373692 rs1227265049 |
339 | S>F | No |
ClinGen TOPMed |
|
|
rs1427979671 CA351373706 |
340 | S>F | No |
ClinGen Ensembl |
|
|
rs202141587 CA2217973 |
342 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351373742 rs1248006096 |
343 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs532886472 CA2217975 |
344 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1559765652 CA351373769 |
344 | S>N | No |
ClinGen Ensembl |
|
|
CA351374029 rs766813957 |
348 | Q>* | No |
ClinGen ExAC |
|
|
rs766813957 CA2218015 |
348 | Q>E | No |
ClinGen ExAC |
|
|
rs754226917 CA2218016 |
349 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs755299546 CA2218017 |
350 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs765557317 CA2218018 |
351 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2218019 rs752914551 |
355 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs758629365 CA2218020 |
356 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351374130 rs1250799745 |
356 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351374144 rs1178898578 |
357 | D>N | No |
ClinGen gnomAD |
|
|
CA2218021 rs569649776 |
359 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2218022 rs747040061 |
360 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757270076 CA2218023 |
361 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2218025 rs745689047 |
364 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2218024 rs781226089 |
364 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA351374291 rs1451256211 |
365 | Y>C | No |
ClinGen TOPMed |
|
|
rs769749151 CA2218026 |
366 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA351375310 rs1450782895 |
370 | S>G | No |
ClinGen gnomAD |
|
|
CA2218047 rs749056821 |
371 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768217821 CA2218048 |
372 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2218049 rs376886611 |
373 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747727028 CA2218050 |
374 | T>M | No |
ClinGen ExAC TOPMed |
|
|
CA351375430 rs747727028 |
374 | T>R | No |
ClinGen ExAC TOPMed |
|
|
CA2218052 rs772699140 |
375 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs372605073 CA2218054 |
376 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351375486 rs1413560561 |
377 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2218055 rs140902248 |
377 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218056 rs375686584 |
378 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387182452 CA351375557 |
379 | L>P | No |
ClinGen gnomAD |
|
|
rs1200221150 CA351375571 |
380 | T>A | No |
ClinGen TOPMed |
|
|
CA351375592 rs1321319695 |
380 | T>I | No |
ClinGen gnomAD |
|
|
CA2218057 rs764253084 |
382 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1446130348 CA351375682 |
383 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1283768243 CA351375702 |
384 | P>L | No |
ClinGen gnomAD |
|
|
rs751846420 CA2218058 |
386 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA351377713 rs1329671243 |
387 | S>N | No |
ClinGen TOPMed |
|
|
rs1329671243 CA351377708 |
387 | S>T | No |
ClinGen TOPMed |
|
|
rs138616009 CA2218085 |
389 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765150852 CA2218086 |
390 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs534611220 CA2218087 |
391 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746551418 CA2218090 |
392 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218089 rs146443541 |
392 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351377841 rs146443541 |
392 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756830374 CA2218091 |
393 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756830374 CA351377855 |
393 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273741166 CA351377885 |
395 | R>G | No |
ClinGen gnomAD |
|
|
CA2218093 rs749864423 |
396 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs774869937 CA2218095 |
398 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2218096 rs748475863 |
398 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs868658532 CA68519878 |
399 | S>Y | No |
ClinGen Ensembl |
|
|
rs148579757 CA2218097 |
401 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253083616 CA351377977 |
402 | S>A | No |
ClinGen gnomAD |
|
|
rs1198694678 CA351377983 |
403 | A>T | No |
ClinGen gnomAD |
|
|
CA351377994 rs1437861430 |
403 | A>V | No |
ClinGen gnomAD |
|
|
CA68519956 rs907869078 |
404 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2218100 rs766541022 |
405 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs776573432 CA2218101 |
406 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759526352 CA2218102 |
407 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs758146413 CA2218106 |
410 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68520016 rs868674042 |
411 | P>L | No |
ClinGen TOPMed |
|
|
rs971097956 CA68520022 |
412 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351378110 rs1359008321 |
413 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs2302014 CA2218109 |
414 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs927073468 CA68520059 |
415 | V>I | No |
ClinGen Ensembl |
|
|
rs745312026 CA2218111 |
416 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68520061 rs932152981 |
416 | P>T | No |
ClinGen TOPMed |
|
|
CA351378198 rs1209788199 |
422 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2218113 rs779523986 |
423 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244726791 CA351378221 |
424 | D>N | No |
ClinGen TOPMed |
|
|
CA68520074 rs1050589664 |
429 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351378282 rs1470196115 |
430 | T>I | No |
ClinGen gnomAD |
|
|
rs1460815112 CA351378284 |
431 | D>H | No |
ClinGen TOPMed |
|
|
CA351378295 rs1247474874 |
432 | P>L | No |
ClinGen gnomAD |
|
|
CA351378291 rs748635618 |
432 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218114 rs748635618 |
432 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773700661 CA2218116 |
434 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs914795657 CA68520101 |
436 | Y>D | No |
ClinGen Ensembl |
|
|
CA2218119 rs754112585 |
437 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218120 rs149111146 |
438 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553724749 CA351378343 |
440 | P>T | No |
ClinGen Ensembl |
|
|
CA2218122 rs775443089 |
442 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218123 rs762854369 |
442 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218124 rs200959257 |
443 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA2218125 rs369372470 COSM281030 |
445 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA351378373 rs369372470 |
445 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218126 rs761531007 |
445 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761531007 CA351378375 |
445 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218127 rs767029835 |
446 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs749980874 CA2218128 |
446 | S>N | No |
ClinGen ExAC |
|
|
rs372081968 CA2218129 |
446 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375190838 CA68520285 |
448 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779690106 CA2218131 |
450 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218132 rs753318077 |
451 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778290595 CA2218134 |
452 | G>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000892150 CA2218136 rs200063144 |
453 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2218138 rs746070013 |
454 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA2218137 rs369837043 |
454 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218139 rs769907918 |
455 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA351378429 rs762944857 |
456 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218141 rs762944857 |
456 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218142 rs762944857 |
456 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761475902 CA2218144 |
457 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1574832368 CA351378449 |
459 | Q>P | No |
ClinGen Ensembl |
|
|
CA2218147 rs562576527 |
460 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2218146 rs562576527 |
460 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1574832400 CA351378460 |
461 | L>P | No |
ClinGen Ensembl |
|
|
rs753336505 CA2218149 |
462 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758991450 CA68520428 |
463 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA351378470 rs1559773918 |
463 | P>L | No |
ClinGen Ensembl |
|
|
rs758991450 CA2218151 |
463 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs143138810 CA2218152 |
464 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351378478 rs1476035006 |
465 | A>E | No |
ClinGen gnomAD |
|
|
rs757599494 CA2218154 |
465 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA68520466 rs971023294 |
466 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs746133419 CA351378492 |
467 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218156 rs746133419 |
467 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218157 rs769997459 |
469 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA351378510 rs1356874624 |
471 | G>S | No |
ClinGen gnomAD |
|
|
rs138171166 CA2218240 |
471 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779699364 CA2218241 |
474 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373412999 CA2218242 |
474 | T>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs779699364 CA351386995 |
474 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149565694 CA2218244 |
475 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313084284 CA351387028 |
476 | S>N | No |
ClinGen TOPMed |
|
|
CA351387034 rs1217970729 |
476 | S>R | No |
ClinGen TOPMed |
|
|
CA351387029 rs1313084284 |
476 | S>T | No |
ClinGen TOPMed |
|
|
CA68534495 rs1021042540 |
479 | P>L | No |
ClinGen Ensembl |
|
|
rs143766466 CA68534518 |
481 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs189584342 CA351387132 |
484 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218248 COSM442641 rs777159772 |
484 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2218247 rs189584342 |
484 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218251 rs145630778 |
487 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA68534592 rs34059254 |
490 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351387234 rs1394349186 |
491 | S>R | No |
ClinGen TOPMed |
|
|
CA351387246 rs763243914 |
492 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763243914 CA2218253 |
492 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218254 rs764356313 |
493 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2218255 rs547260718 |
493 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2218256 rs150929124 |
495 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351387284 rs1383648904 |
495 | Q>R | No |
ClinGen gnomAD |
|
|
CA351387304 rs1291410261 |
497 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351387322 rs1228457044 |
498 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767674726 CA2218257 |
499 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750432690 CA2218258 |
499 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2218259 rs755999686 |
502 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA351387364 rs1258098789 |
502 | E>K | No |
ClinGen TOPMed |
|
|
rs975126924 CA68534676 |
504 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2218260 rs766199552 |
505 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351387445 rs1417855520 |
507 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351387453 rs1165086408 |
508 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351387481 rs1027672876 |
510 | S>R | No |
ClinGen gnomAD |
|
|
CA2218261 rs140655632 |
513 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA68534691 rs779836683 |
514 | S>G | No |
ClinGen Ensembl |
|
|
CA351387545 rs1322443799 |
516 | A>S | No |
ClinGen gnomAD |
|
|
CA351387548 rs1574863116 |
516 | A>V | No |
ClinGen Ensembl |
|
|
CA2218264 rs200683482 |
517 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746757859 CA351387554 |
518 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351387556 rs1448587350 |
518 | G>E | No |
ClinGen gnomAD |
|
|
CA2218266 rs746757859 |
518 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218268 rs141474478 |
520 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218269 rs141474478 |
520 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351387574 rs147626594 |
521 | M>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA68534733 rs147626594 |
521 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2218270 rs749622837 |
522 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1181226953 CA351387599 |
523 | C>R | No |
ClinGen TOPMed |
|
|
CA2218273 rs754939717 |
524 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180373357 CA351387631 |
525 | E>K | No |
ClinGen TOPMed |
|
|
rs548966753 CA2218274 |
527 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs982037622 CA68534744 |
527 | R>I | No |
ClinGen Ensembl |
|
|
CA351387662 rs1485513218 |
527 | R>S | No |
ClinGen TOPMed |
|
|
rs762104560 CA2218275 |
528 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218302 rs752426987 |
530 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218303 rs201060373 |
530 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351388147 rs752426987 |
530 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218305 rs141826550 |
531 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268729767 CA351388158 |
532 | P>A | No |
ClinGen gnomAD |
|
|
rs756759668 CA2218306 |
532 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351388161 rs1199780071 |
533 | A>T | No |
ClinGen gnomAD |
|
|
CA2218308 rs754455093 |
534 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412629904 CA351388167 |
534 | D>N | No |
ClinGen gnomAD |
|
|
rs779432177 CA2218310 |
535 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351388183 rs1200752758 |
536 | A>S | No |
ClinGen gnomAD |
|
|
CA351388184 rs1559794891 |
536 | A>V | No |
ClinGen Ensembl |
|
|
CA351388188 rs1371062594 |
537 | Y>H | No |
ClinGen gnomAD |
|
|
CA68544052 rs916485067 |
539 | I>T | No |
ClinGen TOPMed |
|
|
rs1171241730 CA351388211 |
540 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA351388215 rs1574874727 |
541 | K>E | No |
ClinGen Ensembl |
|
|
rs1425645846 CA351388230 |
542 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2218314 rs375929823 |
543 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218317 rs777894186 |
545 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218316 rs777894186 |
545 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351388246 rs1559794971 |
545 | A>V | No |
ClinGen Ensembl |
|
|
CA2218319 rs776691518 |
548 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351388289 rs1448347251 |
552 | K>R | No |
ClinGen gnomAD |
|
|
CA2218321 rs769664960 |
553 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370662504 CA351388308 |
555 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs139008133 RCV000891375 CA2218322 |
556 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200603089 CA2218323 |
557 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149617362 CA2218325 |
559 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379366314 CA351388352 |
560 | W>L | No |
ClinGen gnomAD |
|
|
rs377640265 CA2218351 |
562 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218352 rs760299056 |
562 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373986137 CA351388369 |
563 | S>G | No |
ClinGen gnomAD |
|
|
CA351388371 rs1466001128 |
563 | S>I | No |
ClinGen gnomAD |
|
|
CA2218354 rs139762137 |
564 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351388380 rs1389804552 |
564 | A>V | No |
ClinGen gnomAD |
|
|
rs1414846896 CA351388381 |
565 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs764374009 CA2218356 |
567 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs751897906 CA2218357 |
568 | E>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1018960 rs375677515 CA2218359 |
570 | A>T | ovary endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2218360 rs746060561 |
570 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68544700 rs1015377192 |
571 | M>I | No |
ClinGen Ensembl |
|
|
CA351388432 rs1256591687 |
572 | P>L | No |
ClinGen gnomAD |
|
|
CA351388433 rs1484189195 |
573 | A>T | No |
ClinGen gnomAD |
|
|
CA2218361 rs570188607 COSM1018961 |
573 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1180073987 CA351388455 |
576 | M>I | No |
ClinGen gnomAD |
|
|
rs201032011 CA2218364 |
577 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA68544770 rs924168207 |
579 | L>P | No |
ClinGen TOPMed |
|
|
CA68544783 rs752872731 |
584 | D>G | No |
ClinGen Ensembl |
|
|
CA68544775 rs959300237 |
584 | D>N | No |
ClinGen gnomAD |
|
|
rs148011827 CA2218368 |
585 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1053922796 CA68544786 |
586 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1218491442 COSM720843 CA351388523 |
587 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1367170118 CA351388519 |
587 | Y>H | No |
ClinGen gnomAD |
|
|
CA2218369 rs773044165 |
589 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2218371 rs770627133 |
591 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA68544809 rs778049642 |
592 | G>R | No |
ClinGen Ensembl |
|
|
rs776136493 CA2218372 |
594 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2218373 COSM210643 rs763386574 |
595 | R>C | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2218374 rs149174780 |
595 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218376 rs762207836 |
596 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1574876630 CA351388589 |
597 | V>G | No |
ClinGen Ensembl |
|
|
CA68544839 rs750704386 |
598 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2218377 rs767846767 |
598 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1218702620 CA351388621 |
602 | A>V | No |
ClinGen TOPMed |
|
|
rs1474037216 CA351388662 |
607 | P>S | No |
ClinGen TOPMed |
|
|
rs755133301 CA2218402 |
609 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755133301 CA351388675 |
609 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351388680 rs778841430 |
610 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218403 rs778841430 |
610 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351388689 rs1228359982 |
611 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351388696 rs1283243349 |
612 | T>I | No |
ClinGen TOPMed |
|
|
CA351388699 rs1291657192 |
613 | K>E | No |
ClinGen gnomAD |
|
|
rs1351028463 CA351388702 |
613 | K>R | No |
ClinGen gnomAD |
|
|
CA351388701 rs1351028463 |
613 | K>T | No |
ClinGen gnomAD |
|
|
rs1210231551 CA351388712 |
615 | S>G | No |
ClinGen TOPMed |
|
|
CA2218404 rs752746489 |
615 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2218405 rs758340742 |
616 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777721028 CA2218406 |
617 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2218407 rs746755154 |
617 | Q>R | No |
ClinGen ExAC |
|
|
CA2218408 rs770743320 COSM3782172 |
618 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770743320 CA68545297 |
618 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218409 rs576518715 |
618 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1232750839 CA351388734 |
619 | I>F | No |
ClinGen TOPMed |
|
|
CA351388735 rs1232750839 |
619 | I>V | No |
ClinGen TOPMed |
|
|
CA2218410 rs745488423 COSM1018963 |
620 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA2218411 rs769405235 |
620 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774860824 CA2218412 |
622 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2218413 rs748659016 |
624 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351388789 rs1360875710 |
627 | M>I | No |
ClinGen gnomAD |
|
|
CA2218414 rs772510982 |
627 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218415 rs773597750 |
628 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM210644 rs976834634 CA68545373 |
628 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA351388795 rs976834634 |
628 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351388792 rs773597750 |
628 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138490464 CA2218417 |
629 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138490464 CA351388802 |
629 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776969216 CA351388817 |
631 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559800084 CA351389926 |
632 | E>Q | No |
ClinGen Ensembl |
|
|
CA68548874 rs556220647 |
637 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2218459 rs556220647 |
637 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA68548880 rs894472363 |
638 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775908482 CA2218460 |
640 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763257916 CA2218461 |
641 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218463 rs774506053 |
642 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351390090 rs41342147 |
643 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218464 VAR_048365 rs41342147 |
643 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1221934320 CA351390197 |
651 | T>A | No |
ClinGen TOPMed |
|
|
rs767310024 CA2218466 |
651 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs200102806 CA2218467 |
653 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200102806 CA2218468 |
653 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1406956 rs371446032 CA2218469 |
653 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2218471 rs753554696 |
654 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2218472 rs754554546 |
655 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1444614751 CA351390329 |
659 | A>V | No |
ClinGen gnomAD |
|
|
rs757810529 CA2218475 |
660 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs752097145 CA2218474 |
660 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA68549013 rs977678365 |
661 | Y>N | No |
ClinGen TOPMed |
|
|
CA2218476 rs553950638 |
662 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2218477 rs746366923 |
663 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68549073 rs775008937 |
668 | K>N | No |
ClinGen Ensembl |
|
|
rs749525881 COSM1406957 CA2218481 |
669 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2218482 rs145029520 |
671 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1457888885 CA351390531 |
673 | P>L | No |
ClinGen gnomAD |
|
|
CA351390522 rs1559800256 |
673 | P>S | No |
ClinGen Ensembl |
|
|
CA351390539 rs1179325036 |
674 | L>F | No |
ClinGen gnomAD |
|
|
rs373829392 CA2218484 |
676 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373829392 CA2218485 |
676 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177474886 CA351390586 |
677 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2218488 rs760656390 |
679 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351390634 rs1401304303 |
680 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753568659 CA2218491 |
684 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766166748 CA2218490 |
684 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs367671801 CA351390669 |
685 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351390674 rs1574885613 |
686 | L>V | No |
ClinGen Ensembl |
|
|
CA351390681 rs1325580160 |
687 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs376813737 CA68549139 |
687 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA351390682 rs1325580160 |
687 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2218495 rs757897858 |
688 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757897858 CA351390689 |
688 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs371732314 CA2218496 |
689 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218497 rs374552131 |
689 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs986489586 CA68549162 |
692 | L>P | No |
ClinGen TOPMed |
|
|
rs368744784 CA2218500 |
693 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151203664 CA2218501 |
693 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218502 rs80234134 |
694 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2218503 rs533193274 |
694 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140462275 CA2218505 |
696 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218507 rs368395104 |
697 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218508 rs770801321 |
698 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs938301125 CA68549235 |
700 | S>G | No |
ClinGen Ensembl |
|
|
rs776438616 RCV000898862 CA2218509 |
701 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1457273254 CA351390759 |
701 | P>S | No |
ClinGen gnomAD |
|
|
CA351390762 rs148360632 |
702 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148360632 CA2218512 |
702 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148360632 CA2218511 |
702 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351390772 rs1021028200 |
703 | H>Q | No |
ClinGen gnomAD |
|
|
rs762667013 CA2218513 |
704 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485068156 CA351390790 |
706 | Y>H | No |
ClinGen TOPMed |
|
|
rs141525988 CA2218515 |
707 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141525988 CA351390797 |
707 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218516 rs756712160 |
708 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs998667102 CA351390816 |
709 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs754367363 CA2218518 |
710 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754367363 CA2218519 |
710 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351390843 rs200231358 |
711 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559805631 CA351390841 |
711 | D>G | No |
ClinGen Ensembl |
|
|
CA2218536 rs143386517 |
712 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1692267 rs554306939 CA2218537 |
712 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA351390861 rs1574897533 |
714 | K>N | No |
ClinGen Ensembl |
|
|
rs753053941 CA2218538 |
716 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351390882 rs1239898753 |
718 | E>A | No |
ClinGen gnomAD |
|
|
CA2218540 rs778093746 |
718 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351390898 rs1280440512 |
720 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs375068294 CA2218542 |
722 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218543 rs781247968 |
724 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2218544 rs745814115 |
727 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351390946 rs1559805716 |
728 | I>T | No |
ClinGen Ensembl |
|
|
rs779735996 CA2218546 |
729 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000956063 CA2218545 rs61740951 |
729 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2218547 rs749071422 |
731 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1471024782 CA351390973 |
733 | L>V | No |
ClinGen gnomAD |
|
|
CA2218550 rs199537364 |
737 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759982790 COSM1018964 CA2218553 |
741 | R>Q | skin endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2218552 rs372872625 |
741 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445535652 CA351391028 |
742 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351391029 rs1445535652 |
742 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA351391036 rs1306333952 |
743 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761893677 CA68556528 |
746 | I>M | No |
ClinGen gnomAD |
|
|
CA68556525 rs565168481 |
746 | I>T | No |
ClinGen 1000Genomes |
|
|
rs1337955553 CA351391053 |
746 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753110606 CA2218555 |
748 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1324821836 CA351391075 |
749 | L>H | No |
ClinGen gnomAD |
|
|
CA2218556 rs763420846 |
751 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351391108 rs751848244 |
754 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs762049533 CA2218579 |
755 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2218580 rs371225959 |
758 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2218581 rs144542827 |
758 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351391145 rs144542827 |
758 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371225959 CA351391142 |
758 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2218582 rs756267431 |
759 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559810894 CA351391169 |
762 | L>F | No |
ClinGen Ensembl |
|
|
rs766357961 CA2218583 |
765 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs148445090 CA68564215 |
766 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs1430448239 CA351391222 |
770 | L>M | No |
ClinGen TOPMed |
|
|
CA2218586 rs753815735 |
773 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs753815735 CA351391245 |
773 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1559810928 CA351391243 |
773 | R>W | No |
ClinGen Ensembl |
|
|
CA351391262 rs1559810961 |
775 | F>C | No |
ClinGen Ensembl |
|
|
rs11551193 CA68564227 |
776 | F>L | No |
ClinGen Ensembl |
|
|
CA351391269 rs1326077298 |
776 | F>S | No |
ClinGen TOPMed |
|
|
rs376189547 CA2218605 |
780 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218607 rs752656317 |
781 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218608 rs758322683 |
782 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs777422887 CA2218609 |
785 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2218610 rs746680140 |
785 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351391345 rs1177173874 |
786 | S>I | No |
ClinGen gnomAD |
|
|
CA2218613 rs763271136 |
789 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2218614 rs763271136 |
789 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA2218612 rs780780753 |
789 | V>F | No |
ClinGen ExAC |
|
|
CA351391365 rs1444770319 |
790 | A>T | No |
ClinGen gnomAD |
|
|
CA2218616 rs748642575 |
790 | A>V | No |
ClinGen ExAC |
|
|
rs910672232 CA68564788 |
791 | G>E | No |
ClinGen Ensembl |
|
|
CA2218619 rs760972249 |
791 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2218622 rs202206666 |
792 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2218623 rs765390864 |
793 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs765390864 CA2218624 |
793 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA351391388 rs1331169645 |
794 | H>R | No |
ClinGen TOPMed |
|
|
rs762914094 CA2218625 |
794 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351391398 rs1389827420 |
795 | F>L | No |
ClinGen TOPMed |
|
|
CA2218627 rs140628478 |
796 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218626 rs200700734 |
796 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351391408 rs1574909288 |
797 | I>S | No |
ClinGen Ensembl |
|
|
CA351391412 rs1404586977 |
798 | R>P | No |
ClinGen TOPMed |
|
|
CA2218629 rs370311991 |
798 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351391417 rs750056840 |
799 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs750056840 CA2218630 |
799 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265901231 CA351391427 |
801 | L>F | No |
ClinGen gnomAD |
|
|
rs748665238 CA2218633 |
802 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778230448 CA2218635 |
803 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA68564888 rs901361915 |
804 | Q>* | No |
ClinGen TOPMed |
|
|
CA351391448 rs1170089378 |
805 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761808991 CA2218662 |
809 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767223956 CA2218663 |
810 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182023402 CA351391497 |
810 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351391494 rs1574916176 |
810 | E>G | No |
ClinGen Ensembl |
|
|
rs150907406 COSM108413 CA68568986 |
811 | S>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2218664 COSM3364675 rs150907406 |
811 | S>G | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs376615706 CA351391507 |
812 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376615706 CA2218665 |
812 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218668 rs753462108 |
814 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351391519 rs753462108 |
814 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764798874 CA351391529 |
815 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs764798874 CA68569015 |
815 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs764798874 CA2218670 |
815 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs62637642 CA2218672 |
817 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753311872 CA2218671 |
817 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs753311872 CA68569031 |
817 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746196993 CA2218675 |
821 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA351391567 rs746196993 |
821 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2218676 rs189711563 |
824 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs189711563 CA351391587 |
824 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs189711563 CA2218677 |
824 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218679 rs138944985 |
825 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218680 rs137999067 |
825 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351391625 rs1261213213 |
830 | I>T | No |
ClinGen Ensembl |
|
|
rs771954106 CA2218683 |
830 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773098796 CA68569116 |
831 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218684 rs773098796 |
831 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461894855 CA351391636 |
832 | V>A | No |
ClinGen gnomAD |
|
|
rs1461894855 CA351391635 |
832 | V>E | No |
ClinGen gnomAD |
|
|
CA68569120 rs918823526 |
833 | A>V | No |
ClinGen Ensembl |
|
|
CA68569122 rs960914247 |
835 | S>G | No |
ClinGen Ensembl |
|
|
rs1559816086 CA351391651 |
835 | S>N | No |
ClinGen Ensembl |
|
|
CA2218710 rs762573248 |
837 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143557762 CA2218709 |
837 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA68570064 rs754567388 |
840 | K>T | No |
ClinGen Ensembl |
|
|
CA351391702 rs761200903 COSM1406959 |
841 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751041850 CA2218712 |
841 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs763683587 CA2218711 |
841 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs61753865 RCV000888934 CA2218714 |
842 | K>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA68570099 rs964216818 |
844 | M>I | No |
ClinGen Ensembl |
|
|
rs150786024 CA2218715 |
844 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150786024 CA2218716 |
844 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351391746 rs1574918162 |
848 | N>T | No |
ClinGen Ensembl |
|
|
rs777762724 CA2218720 |
850 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218721 rs752462904 |
850 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351391765 rs1480512675 |
851 | I>T | No |
ClinGen gnomAD |
|
|
rs1413735634 CA351391774 |
852 | Q>H | No |
ClinGen gnomAD |
|
|
rs1200301317 CA351391786 |
854 | A>G | No |
ClinGen gnomAD |
|
|
CA351391782 rs1247480528 |
854 | A>T | No |
ClinGen TOPMed |
|
|
CA68570129 rs917540877 |
855 | K>N | No |
ClinGen gnomAD |
|
|
CA351391798 rs1168883268 |
856 | S>N | No |
ClinGen gnomAD |
|
|
rs769454846 CA2218725 |
858 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346813021 CA351391813 |
858 | G>V | No |
ClinGen TOPMed |
|
|
CA351391821 rs1316262376 |
859 | D>E | No |
ClinGen gnomAD |
|
|
CA351391818 rs1406847393 |
859 | D>G | No |
ClinGen gnomAD |
|
|
CA351391823 rs1574918299 |
860 | T>A | No |
ClinGen Ensembl |
|
|
CA68570155 rs1025668079 |
860 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs768290561 CA68570189 |
861 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768290561 CA2218730 |
861 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384651936 CA351391837 |
863 | A>T | No |
ClinGen TOPMed |
|
|
rs151317700 CA2218734 |
866 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA68570202 rs151317700 |
866 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs547134701 CA2218735 |
867 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765511185 CA2218736 |
867 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351391863 rs1215427650 |
868 | T>A | No |
ClinGen TOPMed |
|
|
rs1193509436 CA351391874 |
870 | C>S | No |
ClinGen gnomAD |
|
|
CA2218738 rs758557716 |
871 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758557716 CA351391882 |
871 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218739 rs758557716 |
871 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751596956 CA2218740 COSM1206536 |
872 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757297952 CA2218741 |
872 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000974350 rs138817932 CA2218742 |
873 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147732224 CA2218743 |
874 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2218744 rs147732224 |
874 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779650304 CA2218745 |
875 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351391923 COSM304069 rs1194381303 |
876 | S>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2218773 rs749054401 |
878 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs749054401 CA68570554 |
878 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA351391940 rs1340268564 |
879 | E>A | No |
ClinGen TOPMed |
|
|
CA2218775 COSM98129 rs778764437 |
879 | E>K | upper_aerodigestive_tract oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2218776 rs747794704 |
880 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2218777 rs545074403 |
881 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427103766 CA351391954 |
882 | L>V | No |
ClinGen TOPMed |
|
|
CA351391967 rs1436385874 |
884 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1160883515 CA351391977 |
885 | E>A | No |
ClinGen TOPMed |
|
|
rs1485369801 CA351391974 |
885 | E>K | No |
ClinGen Ensembl |
|
|
CA2218778 rs772538104 |
886 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs375678423 CA2218779 |
887 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770157976 CA2218780 |
888 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs770157976 CA68570595 |
888 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
rs763358897 CA2218782 |
889 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775943812 CA2218781 |
889 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2218783 rs552580165 |
890 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218784 rs774622998 |
890 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs373901240 CA2218786 |
891 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761875064 COSM1018966 CA2218785 |
891 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351392015 rs887076759 |
892 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs887076759 CA68570610 |
892 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs886941123 CA351392014 |
892 | G>R | No |
ClinGen Ensembl |
|
|
rs886941123 CA68570607 |
892 | G>S | No |
ClinGen Ensembl |
|
|
CA68570613 rs1004027107 |
893 | V>I | No |
ClinGen gnomAD |
|
|
CA2218787 rs750425141 |
894 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218788 rs368369713 |
894 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750425141 CA351392022 |
894 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766462801 CA2218789 |
895 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA351392034 rs1169979091 |
896 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs75022667 CA2218790 |
896 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1430159259 CA351392041 |
897 | L>P | No |
ClinGen gnomAD |
|
|
rs970644194 CA68570643 |
898 | E>K | No |
ClinGen Ensembl |
|
|
CA68570650 rs866434100 |
899 | G>E | No |
ClinGen Ensembl |
|
|
rs754884528 CA2218791 |
899 | G>R | No |
ClinGen ExAC |
|
|
rs1309841000 CA351392058 |
900 | H>R | No |
ClinGen gnomAD |
|
|
CA2218792 rs371051001 |
901 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293562723 CA351392068 |
902 | Q>* | No |
ClinGen gnomAD |
|
|
rs374237544 CA351392083 |
904 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218795 rs529733307 |
904 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374237544 CA2218794 |
904 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148054452 CA68570674 |
905 | A>T | No |
ClinGen ESP |
|
|
CA351392092 rs1343403867 |
906 | N>D | No |
ClinGen gnomAD |
|
|
rs868261192 CA68570681 |
906 | N>K | No |
ClinGen Ensembl |
|
|
rs368917173 CA2218796 |
906 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351392103 rs1290240372 |
908 | T>A | No |
ClinGen gnomAD |
|
|
CA351392108 rs1385781205 |
908 | T>I | No |
ClinGen TOPMed |
|
|
rs199733188 CA68570685 |
909 | M>T | No |
ClinGen 1000Genomes |
|
|
rs770450806 CA2218798 |
910 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218799 rs749793872 |
911 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201905381 CA2218800 |
912 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351392139 rs1186215850 |
913 | W>* | No |
ClinGen gnomAD |
|
|
CA351392145 rs1463726222 |
914 | Y>H | No |
ClinGen TOPMed |
|
|
CA2218801 rs774641348 |
915 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351392154 rs1449861556 |
915 | R>W | No |
ClinGen gnomAD |
|
|
rs773454492 CA2218804 |
919 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2218803 rs772148774 |
919 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2218805 rs372738616 |
922 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218806 rs372738616 |
922 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987684833 CA68570743 |
923 | D>G | No |
ClinGen Ensembl |
|
|
rs1287988561 CA351392207 |
924 | H>N | No |
ClinGen gnomAD |
|
|
CA351392216 rs1481393848 |
925 | S>G | No |
ClinGen TOPMed |
|
|
CA2218809 rs765145383 |
926 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252749429 CA351392228 |
927 | A>T | No |
ClinGen TOPMed |
|
|
CA2218810 rs752393629 |
927 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs552502521 CA2218813 |
929 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2218812 rs374999833 |
929 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374999833 CA351392239 |
929 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1458972060 CA351392273 |
932 | L>F | No |
ClinGen TOPMed |
|
|
CA2218842 rs747214629 |
934 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs769980116 CA68571693 |
935 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745993703 CA351392289 |
935 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218845 rs745993703 |
935 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68571694 rs908902255 |
936 | L>V | No |
ClinGen Ensembl |
|
|
rs1282903073 CA351392300 |
937 | L>Q | No |
ClinGen gnomAD |
|
|
rs762882207 CA2218848 |
938 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs774148238 CA351392331 |
941 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774148238 CA2218850 |
941 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351392329 rs1435831213 |
941 | K>R | No |
ClinGen gnomAD |
|
|
CA351392345 rs1163322036 |
943 | S>T | No |
ClinGen gnomAD |
|
|
rs575283599 CA2218853 |
945 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1352087147 CA351392356 |
945 | G>S | No |
ClinGen gnomAD |
|
|
CA2218854 rs750059266 |
946 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs755683110 CA2218855 |
949 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs765844476 CA2218856 |
950 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA2218858 rs539553205 |
951 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539553205 CA351392400 |
951 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351392401 rs539553205 |
951 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2218857 rs753153835 |
951 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2218860 rs770459028 |
952 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218862 rs139895598 |
954 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218863 rs139895598 |
954 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218869 rs775582552 |
955 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218867 rs769768522 |
955 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275267882 CA351392434 |
957 | C>R | No |
ClinGen gnomAD |
|
|
CA2218876 rs749207353 |
959 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344174430 CA351392450 |
959 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2218877 rs774128174 |
960 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2218878 rs761647258 |
961 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1009145780 CA68571830 |
962 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA351392474 rs1574923948 |
962 | K>N | No |
ClinGen Ensembl |
|
|
rs1559819671 CA351392481 |
963 | T>I | No |
ClinGen Ensembl |
|
|
rs760259191 CA2218882 |
964 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760259191 CA2218883 |
964 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753346242 CA2218885 |
965 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2218886 rs758937524 |
965 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351392517 rs1574924853 |
967 | D>A | No |
ClinGen Ensembl |
|
|
CA68572065 rs375716573 |
967 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA540754978 rs1277221621 |
968 | Y>* | No |
ClinGen gnomAD |
|
|
CA351392534 rs1574924873 |
969 | P>L | No |
ClinGen Ensembl |
|
|
CA351392531 rs1458535880 |
969 | P>S | No |
ClinGen TOPMed |
|
|
CA2218909 rs150633197 |
970 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA351392543 rs1269627783 |
971 | A>G | No |
ClinGen gnomAD |
|
|
rs753995061 CA2218913 |
972 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2218914 rs553320289 |
974 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68572097 rs901230714 |
977 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs997359952 CA68572101 |
977 | G>D | No |
ClinGen gnomAD |
|
|
CA351392581 rs1161733871 |
978 | Y>C | No |
ClinGen gnomAD |
|
|
rs368809020 CA2218917 |
979 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218918 rs777654148 |
979 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351392591 rs145708249 |
980 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1406960 rs145708249 CA2218920 |
980 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1459063592 CA351392597 |
981 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351392600 rs1306097069 |
981 | S>N | No |
ClinGen gnomAD |
|
|
rs1459063592 CA351392596 |
981 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351392624 rs1349416308 |
985 | E>K | No |
ClinGen gnomAD |
|
|
rs958148449 CA68572111 |
986 | A>T | No |
ClinGen TOPMed |
|
|
CA68572115 rs1016174476 |
986 | A>V | No |
ClinGen Ensembl |
|
|
CA2218923 rs769442983 |
987 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68572123 rs1012198713 |
987 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2218924 rs147747781 |
988 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1574925058 CA351392642 |
988 | G>S | No |
ClinGen Ensembl |
|
|
rs1256995866 CA351392648 |
989 | I>V | No |
ClinGen gnomAD |
|
|
rs762443520 CA2218925 |
990 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559820262 CA351392659 |
990 | H>Q | No |
ClinGen Ensembl |
|
|
rs149705193 CA2218926 |
990 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2218927 rs765848044 |
993 | Y>* | No |
ClinGen ExAC |
|
|
rs773835676 CA2218930 |
993 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180047266 CA351392676 |
993 | Y>D | No |
ClinGen TOPMed |
|
|
CA68502230 rs754098632 |
995 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547156040 CA2218932 |
995 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349435534 CA351392696 |
996 | K>E | No |
ClinGen TOPMed |
|
|
rs765327815 CA2218935 |
997 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758447251 CA2218937 |
998 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs372902205 CA68502235 |
1000 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA2218938 rs777744170 |
1002 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA2218940 COSM1018968 rs140222530 |
1003 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2218942 rs201251233 |
1004 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780792477 CA2218941 |
1004 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs201251233 CA2218943 |
1004 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775254074 CA2218944 |
1005 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218945 rs748858207 |
1006 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773838546 CA2218948 |
1007 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773838546 COSM1018970 CA2218947 |
1007 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs182405145 CA2218946 |
1007 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351392769 rs1420565195 |
1008 | A>T | No |
ClinGen TOPMed |
|
|
rs766784079 CA2218949 |
1008 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218953 rs137904208 |
1009 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759858746 CA2218951 |
1009 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369353792 CA351392787 |
1010 | S>R | No |
ClinGen TOPMed |
|
|
CA2218954 rs758539172 |
1011 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351392825 rs1192066303 |
1016 | R>G | No |
ClinGen gnomAD |
|
|
rs1379023224 CA351392856 |
1018 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2218982 rs144832701 |
1018 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2218981 rs144832701 |
1018 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747657689 CA2218983 |
1019 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174496580 CA351392890 |
1023 | G>A | No |
ClinGen TOPMed |
|
|
rs781613392 CA2218985 |
1023 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA351392892 rs1208409868 |
1024 | A>T | No |
ClinGen gnomAD |
|
|
rs897653332 CA68502652 |
1025 | S>G | No |
ClinGen gnomAD |
|
|
rs746304532 CA2218986 |
1027 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs771539439 CA2218988 |
1029 | G>R | No |
ClinGen TOPMed |
|
|
CA2218990 rs775782542 |
1032 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929152368 CA68502682 |
1032 | P>S | No |
ClinGen Ensembl |
|
|
CA2218991 rs763194660 |
1033 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1221205815 CA351392948 |
1033 | S>T | No |
ClinGen Ensembl |
|
|
rs774611397 CA2218993 |
1035 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2218994 rs775042492 |
1036 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1194572416 CA351392976 |
1037 | D>G | No |
ClinGen TOPMed |
|
|
rs750393481 CA2218997 |
1039 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA68502736 rs141494626 |
1040 | Q>K | No |
ClinGen ESP gnomAD |
|
|
rs760636177 CA2218998 |
1040 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA68502743 rs867531141 |
1041 | P>L | No |
ClinGen Ensembl |
|
|
rs766303472 CA2218999 |
1042 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2219000 rs753721991 |
1043 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2219001 rs754776634 |
1044 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1349660265 CA351393033 |
1047 | G>E | No |
ClinGen TOPMed |
|
|
rs1233377499 CA351393040 |
1048 | M>T | No |
ClinGen TOPMed |
|
|
CA68502761 rs780479046 |
1050 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs777278068 CA2219006 |
1051 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1470983149 CA351393094 |
1055 | E>C | No |
ClinGen gnomAD |
No associated diseases with O94887
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 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. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton reorganization | A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| hair cycle process | A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. |
| neuron remodeling | The developmentally regulated remodeling of neuronal projections such as pruning to eliminate the extra dendrites and axons projections set up in early stages of nervous system development. |
| osteoclast differentiation | The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. |
| podosome assembly | The aggregation, arrangement and bonding together of a set of components to form a podosome, an actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell. |
| Rac protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rac family of proteins switching to a GTP-bound active state. |
| regulation of integrin activation | Any process that modulates the frequency, rate, or extent of integrin activation. |
| semaphorin-plexin signaling pathway | The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand. |
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 |
| Q9Y4F1 | FARP1 | FERM, ARHGEF and pleckstrin domain-containing protein 1 | Homo sapiens (Human) | SS |
| A2AD83 | Frmd7 | FERM domain-containing protein 7 | Mus musculus (Mouse) | PR |
| F8VPU2 | Farp1 | FERM, ARHGEF and pleckstrin domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q91VS8 | Farp2 | FERM, ARHGEF and pleckstrin domain-containing protein 2 | Mus musculus (Mouse) | EV |
| F1LYQ8 | Farp1 | FERM, ARHGEF and pleckstrin domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEIEGTYRV | LQTAGMRLGA | QTPVGVSTLE | PGQTLLPRMQ | EKHLHLRVKL | LDNTMEIFDI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EPKCDGQVLL | TQVWKRLNLV | ECDYFGMEFQ | NTQSYWIWLE | PMKPIIRQIR | RPKNVVLRLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKFFPPDPGQ | LQEEYTRYLF | ALQLKRDLLE | ERLTCADTTA | ALLTSHLLQS | EIGDYDETLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| REHLKVNEYL | PGQQHCLEKI | LEFHQKHVGQ | TPAESDFQVL | EIARKLEMYG | IRFHMASDRE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GTKIQLAVSH | MGVLVFQGTT | KINTFNWSKV | RKLSFKRKRF | LIKLHPEVHG | PYQDTLEFLL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSRDECKNFW | KICVEYHTFF | RLLDQPKPKA | KAVFFSRGSS | FRYSGRTQKQ | LVDYFKDSGM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KRIPYERRHS | KTHTSVRALT | ADLPKQSISF | PEGLRTPASP | SSANAFYSLS | PSTLVPSGLP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EFKDSSSSLT | DPQVSYVKSP | AAERRSGAVA | GGPDTPSAQP | LGPPALQPGP | GLSTKSPQPS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PSSRKSPLSL | SPAFQVPLGP | AEQGSSPLLS | PVLSDAGGAG | MDCEEPRHKR | VPADEAYFIV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KEILATERTY | LKDLEVITVW | FRSAVVKEDA | MPATLMTLLF | SNIDPIYEFH | RGFLREVEQR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LALWEGPSKA | HTKGSHQRIG | DILLRNMRQL | KEFTSYFQRH | DEVLTELEKA | TKRCKKLEAV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YKEFELQKVC | YLPLNTFLLK | PIQRLLHYRL | LLRRLCGHYS | PGHHDYADCH | DALKAITEVT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TTLQHILIRL | ENLQKLTELQ | RDLVGIENLI | APGREFIREG | CLHKLTKKGL | QQRMFFLFSD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MLLYTSKGVA | GTSHFRIRGL | LPLQGMLVEE | SDNEWSVPHC | FTIYAAQKTI | VVAASTRLEK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EKWMLDLNSA | IQAAKSGGDT | APALPGRTVC | TRPPRSPNEV | SLEQESEDDA | RGVRSSLEGH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GQHRANTTMH | VCWYRNTSVS | RADHSAAVEN | QLSGYLLRKF | KNSHGWQKLW | VVFTNFCLFF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| YKTHQDDYPL | ASLPLLGYSV | SIPREADGIH | KDYVFKLQFK | SHVYFFRAES | KYTFERWMEV |
| 1030 | 1040 | 1050 | |||
| IQGASSSAGR | APSIVQDGPQ | PSSGLEGMVR | GKEE |