Q9NZN5
EV
Gene name |
ARHGEF12 (KIAA0382, LARG) |
Protein name |
Rho guanine nucleotide exchange factor 12 |
Names |
Leukemia-associated RhoGEF |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23365 |
EC number |
|
Protein Class |
RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2, ISOFORM D (PTHR45872) |
Descriptions
ARHGEF12 plays a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). It acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. Its linker region connecting the N-terminal RGS-homology (RH) domain and the DH domain inhibits the intrinsic guanine nucleotide exchange (GEF) activity of ARHGEF12. Deletion of this region (residues 765-782) or mutations of a conserved tryptophan residue within this region, produced 80% declines in GEF activity of the LARG DH/PH domains toward RhoA.
Autoinhibitory domains (AIDs)
Target domain |
413-766 (DH-PH domains) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment |
Target domain |
413-766 (DH-PH domains) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
References
- Chen Z et al. (2011) "Modulation of a GEF switch: autoinhibition of the intrinsic guanine nucleotide exchange activity of p115-RhoGEF", Protein science : a publication of the Protein Society, 20, 107-17
- Kristelly R et al. (2004) "Structural determinants of RhoA binding and nucleotide exchange in leukemia-associated Rho guanine-nucleotide exchange factor", The Journal of biological chemistry, 279, 47352-62
Autoinhibited structure
Activated structure
5 structures for Q9NZN5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1TXD | X-ray | 213 A | A | 766-1138 | PDB |
| 1X86 | X-ray | 322 A | A/C/E/G | 766-1138 | PDB |
| 2OMJ | NMR | - | A | 67-151 | PDB |
| 2OS6 | NMR | - | A | 67-151 | PDB |
| AF-Q9NZN5-F1 | Predicted | AlphaFoldDB |
893 variants for Q9NZN5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1565409406 CA382989611 |
3 | G>D | No |
ClinGen Ensembl |
|
|
CA6323866 rs749687348 |
6 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371529946 CA382989634 |
7 | T>A | No |
ClinGen gnomAD |
|
|
CA382989638 rs1334983943 |
7 | T>I | No |
ClinGen gnomAD |
|
|
CA382989637 rs1334983943 |
7 | T>S | No |
ClinGen gnomAD |
|
|
rs771144910 CA6323867 COSM3666864 |
8 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6323869 rs759744899 |
10 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1256803889 CA382989658 |
11 | R>G | No |
ClinGen TOPMed |
|
|
rs749692678 COSM466464 CA6323885 |
11 | R>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771466524 CA6323886 |
12 | F>C | No |
ClinGen ExAC |
|
|
CA229742734 rs963007055 |
15 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6323887 rs779203538 |
17 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1352648258 CA382993155 |
18 | I>M | No |
ClinGen gnomAD |
|
|
CA6323888 rs746222054 |
18 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229742743 rs975708993 |
19 | R>G | No |
ClinGen TOPMed |
|
|
rs777494226 CA6323902 |
19 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372974707 CA382993177 |
20 | H>R | No |
ClinGen gnomAD |
|
|
rs1323303283 CA382993196 |
23 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757754693 CA6323904 |
26 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA382993218 rs1436675407 COSM2107285 |
26 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA382993246 rs1269098662 |
30 | T>I | No |
ClinGen Ensembl |
|
|
rs1227058724 CA382993274 |
34 | Q>P | No |
ClinGen gnomAD |
|
|
CA6323907 rs772362801 |
38 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382993325 rs374271700 |
38 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6323908 rs374271700 |
38 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6323909 rs747295146 |
39 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1385846555 CA382993334 |
39 | I>V | No |
ClinGen TOPMed |
|
|
rs768850488 CA6323910 |
40 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1451981906 CA382993357 |
41 | S>P | No |
ClinGen gnomAD |
|
|
CA382993393 rs1468317637 |
43 | D>A | No |
ClinGen Ensembl |
|
|
CA382993456 rs1448894865 |
47 | T>I | No |
ClinGen gnomAD |
|
|
CA6323932 rs190640580 |
52 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382994271 rs1280167636 |
55 | K>Q | No |
ClinGen gnomAD |
|
|
CA6323935 rs760515797 |
59 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1046964028 CA229743956 |
59 | E>Q | No |
ClinGen Ensembl |
|
|
CA382994360 rs1393827776 |
61 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6323936 rs763675654 |
63 | S>F | No |
ClinGen ExAC |
|
|
CA6323938 rs200569458 |
64 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6323939 rs376090334 |
66 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382994449 rs1286208209 |
67 | G>S | No |
ClinGen gnomAD |
|
|
rs1308938541 CA382994708 |
69 | V>F | No |
ClinGen gnomAD |
|
|
rs374153562 CA6323951 |
71 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6323953 rs34754222 COSM3786996 |
73 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1484285673 CA382994761 |
77 | K>E | No |
ClinGen gnomAD |
|
|
CA6323954 rs775530301 |
79 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6323955 rs746812292 |
80 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA382994793 rs1483560417 |
81 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA382994832 rs1431095752 |
87 | S>I | No |
ClinGen gnomAD |
|
|
CA382994854 rs1463008727 |
90 | N>I | No |
ClinGen TOPMed |
|
|
rs764771631 CA6323959 |
94 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764771631 CA6323960 |
94 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762407733 CA6323961 |
95 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs766891281 CA6323962 |
98 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs369791110 CA6323980 |
105 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA229747075 rs965341766 |
109 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs965341766 CA382994985 |
109 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs113223215 CA6323981 |
110 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6323983 COSM923937 rs767889107 |
113 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA382995032 rs1469528640 |
115 | I>V | No |
ClinGen gnomAD |
|
|
CA382995049 rs1186344119 |
116 | K>R | No |
ClinGen gnomAD |
|
|
rs1190373746 CA382995327 |
126 | N>D | No |
ClinGen gnomAD |
|
|
CA382995331 rs1379343183 |
126 | N>S | No |
ClinGen gnomAD |
|
|
CA382995362 rs1436870976 |
128 | L>P | No |
ClinGen TOPMed |
|
|
CA382995385 rs1289426055 |
130 | V>L | No |
ClinGen gnomAD |
|
|
CA382995414 rs1565470816 |
132 | K>T | No |
ClinGen Ensembl |
|
|
rs749063772 CA6324019 |
135 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382995506 rs1429666525 |
138 | S>F | No |
ClinGen gnomAD |
|
|
rs1168999952 COSM3738898 CA382995512 |
139 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1168999952 CA382995511 |
139 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382995520 rs1460385285 |
140 | V>A | No |
ClinGen TOPMed |
|
|
CA382995526 rs1399009224 |
141 | A>V | No |
ClinGen gnomAD |
|
|
rs1323364361 CA382995536 |
143 | T>A | No |
ClinGen gnomAD |
|
|
rs758053707 CA6324043 |
146 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779478124 CA6324044 |
147 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746485355 CA6324045 COSM923938 |
147 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769314108 CA6324046 |
149 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1341163516 CA382995576 |
150 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs777224506 CA6324047 |
151 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382995581 rs1286350578 |
151 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382995622 rs1469063566 |
154 | I>L | No |
ClinGen gnomAD |
|
|
rs1311404533 CA382995628 |
154 | I>N | No |
ClinGen TOPMed |
|
|
CA6324048 rs545026216 |
155 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6324050 rs773624142 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6324052 rs766606091 |
158 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs373614219 CA229748693 |
158 | D>N | No |
ClinGen TOPMed |
|
|
CA6324053 rs774338862 |
162 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764042487 CA6324055 |
163 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761602362 CA6324057 |
165 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA382995783 rs1385745574 |
166 | I>T | No |
ClinGen gnomAD |
|
|
CA6324058 rs376159779 |
166 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382995808 rs1381193616 |
168 | H>R | No |
ClinGen gnomAD |
|
|
rs1295723297 CA382995824 |
169 | M>T | No |
ClinGen gnomAD |
|
|
CA6324059 rs563422045 |
170 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6324060 rs758026510 |
171 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs779716977 CA6324061 |
172 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751131948 CA6324062 |
172 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA382995856 rs779716977 |
172 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324063 rs375979943 |
173 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266491663 CA382995884 |
174 | T>A | No |
ClinGen gnomAD |
|
|
rs1464464482 CA382995893 |
175 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1205771683 CA382995921 |
177 | H>Y | No |
ClinGen gnomAD |
|
|
CA382995949 rs1373805729 |
179 | P>S | No |
ClinGen TOPMed |
|
|
rs147982337 CA6324064 |
182 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6324065 rs748729414 |
183 | G>W | No |
ClinGen ExAC |
|
|
CA382996028 rs1187469350 |
185 | M>V | No |
ClinGen gnomAD |
|
|
CA6324066 rs202125964 |
186 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382996065 rs1476404752 |
187 | R>K | No |
ClinGen gnomAD |
|
|
CA6324067 rs778050432 |
192 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA382996126 rs1387133373 |
193 | L>F | No |
ClinGen TOPMed |
|
|
rs1409273168 CA382996139 |
195 | G>R | No |
ClinGen gnomAD |
|
|
CA382996438 rs1408062675 |
199 | N>T | No |
ClinGen TOPMed |
|
|
CA382996467 rs1466756558 |
203 | N>K | No |
ClinGen TOPMed |
|
|
CA382996478 rs1251622382 |
205 | K>E | No |
ClinGen gnomAD |
|
|
CA382996497 rs1418143644 |
207 | E>D | No |
ClinGen gnomAD |
|
|
rs971163090 CA229752718 |
210 | R>K | No |
ClinGen Ensembl |
|
|
rs765957041 CA6324079 |
214 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs931361018 CA229752723 |
218 | E>K | No |
ClinGen TOPMed |
|
|
rs754670094 CA6324081 |
219 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751187080 CA6324080 |
219 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1172888239 CA382996594 |
221 | Q>H | No |
ClinGen gnomAD |
|
|
rs1591580981 CA382996613 |
222 | L>F | No |
ClinGen Ensembl |
|
|
CA6324104 rs755605987 |
226 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs754305212 CA6324106 |
228 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754305212 CA382996656 |
228 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324107 rs765313410 COSM159168 |
229 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA382996660 rs1267568810 |
229 | R>Q | No |
ClinGen TOPMed |
|
|
CA229752795 rs773336293 |
230 | T>A | No |
ClinGen gnomAD |
|
|
CA382996664 rs773336293 |
230 | T>S | No |
ClinGen gnomAD |
|
|
rs114537415 CA6324108 RCV000970233 |
231 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6324110 rs758648742 |
235 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172255122 CA382996749 |
242 | A>V | No |
ClinGen gnomAD |
|
|
rs747069086 CA6324112 |
247 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768710303 CA6324113 |
248 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6324116 rs770972380 |
255 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs374696746 CA6324117 |
255 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324118 rs759368594 |
256 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA229752825 rs999658957 |
256 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1232252403 CA382996931 |
258 | G>V | No |
ClinGen gnomAD |
|
|
CA6324120 rs371952842 |
259 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324121 rs375339547 |
261 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324148 rs369010165 |
262 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417019625 CA382997082 |
263 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA382997079 rs1402560211 |
263 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382997091 rs1174097678 |
265 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382997092 rs1174097678 |
265 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6324149 rs781232750 |
267 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6324150 rs570934235 |
268 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA229753545 rs201353944 |
270 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779003559 CA6324152 |
270 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs914873844 CA229753551 |
273 | G>A | No |
ClinGen Ensembl |
|
|
rs946379701 CA229753553 |
276 | L>V | No |
ClinGen Ensembl |
|
|
rs779950284 CA6324156 |
285 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs746738326 CA6324157 |
290 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA382997275 rs1211589334 |
294 | C>Y | No |
ClinGen gnomAD |
|
|
rs1282129315 CA382997289 |
296 | S>G | No |
ClinGen gnomAD |
|
|
CA382997303 rs1181314475 |
298 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1181314475 CA382997302 |
298 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6324159 rs200872764 |
299 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164267055 CA382997314 |
299 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6324161 rs769359799 |
301 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761313745 CA6324160 |
301 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324162 rs772694962 |
302 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6324164 rs766763144 |
303 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs751987560 CA6324165 |
303 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1330014338 CA382997356 |
306 | N>S | No |
ClinGen gnomAD |
|
|
rs937273432 CA229757523 |
309 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382997969 rs937273432 |
309 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs567481638 CA6324187 |
312 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA229757524 rs1057079226 |
312 | S>R | No |
ClinGen TOPMed |
|
|
CA382998001 rs1226685511 |
313 | G>V | No |
ClinGen gnomAD |
|
|
CA229757538 rs776920231 |
316 | E>K | No |
ClinGen Ensembl |
|
|
COSM923942 rs528678579 CA382998025 |
317 | R>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs528678579 CA6324188 |
317 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382998057 rs1239757597 |
322 | E>K | No |
ClinGen TOPMed |
|
|
rs1348771490 CA382998078 |
324 | P>L | No |
ClinGen TOPMed |
|
|
CA229757571 rs958048387 |
326 | K>E | No |
ClinGen Ensembl |
|
|
rs751513670 CA6324192 |
328 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA382998103 rs989908837 COSM1746096 |
328 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs989908837 CA229757576 |
328 | E>Q | No |
ClinGen Ensembl |
|
|
rs1382269323 CA382998127 |
331 | Q>H | No |
ClinGen Ensembl |
|
|
CA229757585 rs376760071 |
332 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA229759366 rs922153890 |
334 | D>N | No |
ClinGen TOPMed |
|
|
rs761766621 CA6324226 |
335 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146867149 CA6324227 |
335 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761989636 CA382998355 |
336 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324233 rs763037734 |
340 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6324232 rs763037734 |
340 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs769876465 CA6324231 |
340 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6324234 rs752565950 |
345 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6324235 rs202022560 |
345 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324236 rs763936117 |
346 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs375231017 CA6324237 |
348 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896131098 CA229759376 |
348 | P>S | No |
ClinGen TOPMed |
|
|
rs187048571 CA6324238 |
349 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368890371 CA382998457 |
350 | I>V | No |
ClinGen gnomAD |
|
|
rs749926691 CA6324240 |
351 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778592099 CA6324239 |
351 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324242 rs757911921 |
359 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA382998581 rs1388581914 |
360 | T>A | No |
ClinGen TOPMed |
|
|
rs370519171 CA6324244 |
361 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324243 rs370519171 |
361 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239404525 CA382998610 |
362 | H>R | No |
ClinGen gnomAD |
|
|
rs140707343 CA6324245 |
362 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs185166241 CA6324268 |
365 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382999098 rs749570909 |
366 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165743344 CA382999119 |
368 | Q>R | No |
ClinGen gnomAD |
|
|
CA382999151 rs1429160702 |
370 | S>I | No |
ClinGen gnomAD |
|
|
rs1256358009 CA382999168 |
371 | C>Y | No |
ClinGen gnomAD |
|
|
CA382999191 rs1313166047 |
372 | F>L | No |
ClinGen TOPMed |
|
|
CA382999183 rs1226925130 |
372 | F>S | No |
ClinGen TOPMed |
|
|
CA382999181 rs1226925130 |
372 | F>Y | No |
ClinGen TOPMed |
|
|
CA382999263 rs1368238106 |
377 | L>F | No |
ClinGen TOPMed |
|
|
CA382999252 rs1408825637 |
377 | L>I | No |
ClinGen TOPMed |
|
|
CA382999309 rs1565484109 |
381 | R>C | No |
ClinGen Ensembl |
|
|
CA6324273 rs200373182 |
381 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462445832 CA382999345 |
384 | H>Y | No |
ClinGen TOPMed |
|
|
CA382999374 rs1232310988 |
386 | A>T | No |
ClinGen gnomAD |
|
|
rs570393469 CA6324276 |
388 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382999434 rs1565484161 |
390 | H>R | No |
ClinGen Ensembl |
|
|
CA382999430 rs1239099728 |
390 | H>Y | No |
ClinGen Ensembl |
|
|
rs930482804 CA229760363 |
391 | H>Y | No |
ClinGen TOPMed |
|
|
CA229760388 rs1055902467 |
393 | V>I | No |
ClinGen Ensembl |
|
|
rs1195555066 CA382999555 |
399 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382999578 rs1472350434 |
401 | L>F | No |
ClinGen TOPMed |
|
|
CA382999690 rs1264280773 |
406 | Y>C | No |
ClinGen TOPMed |
|
|
rs750698587 CA6324306 |
408 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758523995 CA6324307 COSM3666132 |
410 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6324309 rs376369757 |
412 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324310 rs769792367 |
413 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6324311 rs777794815 |
414 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382999809 rs1347937433 |
415 | S>F | No |
ClinGen TOPMed |
|
|
CA382999814 rs1296848498 |
416 | K>E | No |
ClinGen TOPMed |
|
|
rs749098288 CA6324312 |
416 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191875965 CA382999841 |
418 | T>S | No |
ClinGen gnomAD |
|
|
rs199633497 CA382999856 |
419 | R>C | No |
ClinGen TOPMed |
|
|
rs199633497 CA229760750 |
419 | R>G | No |
ClinGen TOPMed |
|
|
CA382999870 rs1394986561 |
420 | R>H | No |
ClinGen gnomAD |
|
|
CA6324313 rs770915144 |
421 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407795404 CA382999880 |
422 | F>L | No |
ClinGen gnomAD |
|
|
CA6324315 rs759283013 |
423 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382999912 rs1436705074 |
426 | H>R | No |
ClinGen TOPMed |
|
|
rs1395738903 CA382999933 |
429 | F>L | No |
ClinGen TOPMed |
|
|
rs1448309733 CA382999950 |
431 | D>V | No |
ClinGen gnomAD |
|
|
CA382999968 rs1591596951 |
434 | A>G | No |
ClinGen Ensembl |
|
|
rs1287780135 CA382999985 |
435 | H>P | No |
ClinGen gnomAD |
|
|
rs1429745295 CA383000016 |
440 | V>F | No |
ClinGen gnomAD |
|
|
rs1435232059 CA383000035 |
443 | E>K | No |
ClinGen TOPMed |
|
|
CA229763288 rs760551946 |
444 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749298087 CA6324332 |
446 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6324359 rs374054690 |
457 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374054690 CA383000585 |
457 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403165805 CA383000653 |
462 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs189894068 CA6324360 |
462 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6324361 rs770298117 |
463 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324362 rs770694253 |
464 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241459640 CA383000688 |
465 | I>V | No |
ClinGen gnomAD |
|
|
CA229764167 rs201670344 |
468 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6324364 rs201670344 |
468 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383000748 rs1257026576 |
469 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774756398 CA6324365 |
471 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370839910 CA6324367 |
475 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752848440 CA6324368 |
476 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA229764195 rs374518172 |
481 | E>Q | No |
ClinGen ESP |
|
|
rs1382070785 CA383000932 |
482 | D>E | No |
ClinGen gnomAD |
|
|
CA383000951 COSM3808586 rs1326737045 |
484 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1198710356 CA383001033 |
486 | K>T | No |
ClinGen gnomAD |
|
|
CA229764517 rs963893223 |
487 | R>C | No |
ClinGen TOPMed |
|
|
CA6324383 rs753626052 |
487 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176653022 CA383001078 |
489 | M>I | No |
ClinGen Ensembl |
|
|
rs919694583 CA229764540 |
489 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1190561677 CA383001097 |
490 | G>V | No |
ClinGen gnomAD |
|
|
rs375753318 CA6324385 |
496 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221734111 CA383001189 |
497 | E>D | No |
ClinGen TOPMed |
|
|
CA6324387 rs367789216 |
497 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333383359 CA383001204 |
499 | T>A | No |
ClinGen TOPMed |
|
|
rs753919820 CA6324388 |
499 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383001207 rs753919820 |
499 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1382012824 CA383001214 |
500 | K>E | No |
ClinGen TOPMed |
|
|
rs147206488 CA6324390 |
500 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383001219 rs1157846296 |
500 | K>R | No |
ClinGen gnomAD |
|
|
CA6324391 rs751365432 |
502 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6324392 rs754699641 |
503 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs780959221 CA6324393 |
503 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6324394 COSM343956 rs752404554 |
505 | R>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs755767727 CA6324395 |
505 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138160103 CA6324396 |
509 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383001363 rs1173697305 |
512 | L>S | No |
ClinGen TOPMed |
|
|
rs979572851 CA229764593 |
513 | E>Q | No |
ClinGen Ensembl |
|
|
rs1032127134 COSM278960 CA229764600 |
516 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs748791499 CA6324397 |
516 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs779420052 CA6324399 |
518 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1319438820 CA383001498 |
523 | V>L | No |
ClinGen gnomAD |
|
|
rs1489457200 CA383001572 |
528 | E>* | No |
ClinGen gnomAD |
|
|
CA6324402 rs775988297 |
528 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6324404 rs761031259 |
529 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324403 rs761031259 |
529 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201273109 CA6324420 |
533 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1036810006 CA229765044 |
535 | A>S | No |
ClinGen TOPMed |
|
|
rs199680129 CA6324421 |
536 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs199680129 CA383001752 |
536 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1421729429 CA383001748 |
536 | V>I | No |
ClinGen TOPMed |
|
|
CA383001778 rs1158596517 |
540 | K>E | No |
ClinGen gnomAD |
|
|
rs201433382 CA229765373 |
541 | S>R | No |
ClinGen 1000Genomes |
|
|
rs764893833 CA6324444 |
543 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1314344020 CA383001835 |
546 | Y>C | No |
ClinGen TOPMed |
|
|
CA6324445 rs749925333 |
546 | Y>H | No |
ClinGen ExAC |
|
|
rs1219993115 CA383001841 |
547 | V>L | No |
ClinGen gnomAD |
|
|
CA6324446 rs373475071 |
548 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383001870 rs1316358926 |
551 | Y>C | No |
ClinGen gnomAD |
|
|
CA229765394 rs200816907 |
552 | M>V | No |
ClinGen Ensembl |
|
|
rs1459439598 CA383001945 |
557 | V>I | No |
ClinGen gnomAD |
|
|
CA383002001 rs1246453894 |
561 | E>A | No |
ClinGen gnomAD |
|
|
CA383002025 COSM923949 rs1228103500 |
563 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA229765399 rs972182212 |
567 | H>Q | No |
ClinGen TOPMed |
|
|
rs1193331788 CA383002101 |
569 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6324450 rs781394851 |
570 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324451 rs748450001 |
570 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1404655484 CA383002121 |
571 | R>W | No |
ClinGen TOPMed |
|
|
CA383002135 rs1301046561 |
572 | I>T | No |
ClinGen TOPMed |
|
|
rs376921206 CA229765404 |
573 | G>A | No |
ClinGen ESP TOPMed |
|
|
CA229765405 rs267602728 |
576 | P>L | No |
ClinGen Ensembl |
|
|
CA383002223 rs1169256443 |
579 | K>R | No |
ClinGen gnomAD |
|
|
CA6324474 rs778847525 |
582 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA229766052 rs941129019 |
585 | D>V | No |
ClinGen Ensembl |
|
|
rs1230537338 CA383002386 |
585 | D>Y | No |
ClinGen gnomAD |
|
|
CA6324475 rs747019665 |
587 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217859223 CA383002474 |
592 | G>R | No |
ClinGen gnomAD |
|
|
CA383002545 rs1412129849 |
597 | F>L | No |
ClinGen TOPMed |
|
|
rs779716115 CA229766072 |
597 | F>S | No |
ClinGen Ensembl |
|
|
CA6324479 rs769570359 |
604 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773062414 CA383002637 |
605 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165432429 CA383002648 |
606 | R>K | No |
ClinGen gnomAD |
|
|
CA383002661 rs1378451111 |
607 | P>S | No |
ClinGen gnomAD |
|
|
rs1051039253 CA229766082 |
609 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6324481 rs577733342 |
609 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6324482 rs766034313 |
610 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324483 rs751001694 |
612 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383002739 rs1591606284 |
613 | S>G | No |
ClinGen Ensembl |
|
|
CA383002749 rs1394511571 |
613 | S>R | No |
ClinGen gnomAD |
|
|
rs953216580 CA229767791 |
620 | E>* | No |
ClinGen Ensembl |
|
|
rs1008977842 CA229767793 |
621 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6324505 rs201274468 |
624 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754173692 CA6324507 |
625 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324508 rs141324681 COSM3687129 |
625 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA383003122 rs1399676686 |
626 | H>N | No |
ClinGen gnomAD |
|
|
rs778957865 CA6324509 |
626 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6324510 rs750517391 |
629 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383003142 rs1389273461 |
629 | H>Y | No |
ClinGen gnomAD |
|
|
rs780165858 CA6324512 |
631 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs780165858 CA6324513 |
631 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA383003159 rs770720148 |
632 | T>A | No |
ClinGen gnomAD |
|
|
rs770720148 CA229767827 |
632 | T>S | No |
ClinGen gnomAD |
|
|
CA6324514 rs756086671 |
633 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6324515 rs541058043 |
634 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383003178 rs1211162306 |
635 | S>C | No |
ClinGen gnomAD |
|
|
CA383003174 rs1198768720 |
635 | S>P | No |
ClinGen gnomAD |
|
|
CA6324516 COSM923951 rs200737612 |
636 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1200947110 CA383003199 |
639 | E>K | No |
ClinGen TOPMed |
|
|
rs770630387 CA6324517 |
640 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA383003209 rs1452060589 |
640 | P>S | No |
ClinGen TOPMed |
|
|
CA383003222 rs1267806813 |
642 | D>N | No |
ClinGen gnomAD |
|
|
CA229767888 rs774457237 |
643 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA229767891 rs774457237 |
643 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1056877511 CA229767882 |
643 | S>P | No |
ClinGen gnomAD |
|
|
rs1423233770 CA383003233 |
644 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs377006470 CA6324518 |
644 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771541631 CA6324520 |
646 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1457850226 COSM116765 CA383003252 |
647 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs199748151 CA6324521 |
647 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199748151 CA229767906 |
647 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375957461 CA6324522 |
649 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199665294 CA6324524 |
650 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406349202 CA383003287 |
650 | G>R | No |
ClinGen gnomAD |
|
|
rs199665294 CA6324523 |
650 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1214632345 CA383003330 |
653 | N>S | No |
ClinGen gnomAD |
|
|
CA383003339 rs1318160785 |
654 | E>K | No |
ClinGen TOPMed |
|
|
rs994737666 CA229767918 |
656 | T>A | No |
ClinGen TOPMed |
|
|
rs765625930 CA6324526 |
656 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6324528 rs372717965 |
658 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383003421 rs1591610183 |
660 | Y>C | No |
ClinGen Ensembl |
|
|
rs1591610183 CA383003418 |
660 | Y>S | No |
ClinGen Ensembl |
|
|
rs1008697730 CA229767954 |
663 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6324531 rs751647539 |
664 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA6324530 rs751647539 |
664 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA383003470 rs1488780818 |
665 | S>A | No |
ClinGen gnomAD |
|
|
CA383003478 rs1188291844 |
665 | S>F | No |
ClinGen gnomAD |
|
|
rs35707795 RCV000881518 CA6324532 |
666 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1423688526 CA383003506 |
667 | S>F | No |
ClinGen gnomAD |
|
|
CA383003521 rs1173760704 |
669 | V>I | No |
ClinGen TOPMed |
|
|
rs749100353 CA6324533 COSM541419 |
670 | A>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA383003618 rs1372423228 |
679 | G>R | No |
ClinGen TOPMed |
|
|
CA383003623 rs1418226378 |
680 | G>R | No |
ClinGen gnomAD |
|
|
rs1263580707 CA383003641 |
682 | E>G | No |
ClinGen TOPMed |
|
|
rs894430104 CA229767998 |
685 | T>K | No |
ClinGen TOPMed |
|
|
CA383003661 rs1431019301 |
685 | T>P | No |
ClinGen gnomAD |
|
|
CA383003721 rs1371529020 |
686 | G>V | No |
ClinGen TOPMed |
|
|
CA6324558 rs377066055 |
687 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779611324 CA6324559 |
690 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs943776656 CA229771731 |
690 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383003782 rs1234009979 |
696 | P>H | No |
ClinGen gnomAD |
|
|
CA6324562 rs780652739 |
698 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA383003799 rs1432243277 |
699 | T>A | No |
ClinGen gnomAD |
|
|
rs891460226 CA229771757 |
700 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1377075186 CA383003813 |
701 | D>G | No |
ClinGen TOPMed |
|
|
CA383003827 rs1555117968 |
703 | T>I | No |
ClinGen Ensembl |
|
|
rs371507639 CA229771766 |
704 | P>T | No |
ClinGen ESP TOPMed |
|
|
rs773482324 CA6324566 |
705 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324567 rs763312257 COSM923954 |
705 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1444090921 CA383003843 |
706 | T>I | No |
ClinGen gnomAD |
|
|
CA6324568 rs374705034 |
708 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941517578 CA229771806 |
709 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1285227801 CA383003890 |
713 | F>L | No |
ClinGen gnomAD |
|
|
rs79598547 CA229771828 |
713 | F>S | No |
ClinGen Ensembl |
|
|
CA229771830 rs1042741855 |
715 | P>L | No |
ClinGen Ensembl |
|
|
CA383003917 rs1373688600 |
718 | L>* | No |
ClinGen gnomAD |
|
|
rs759833058 CA6324570 |
721 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1274305520 CA383003952 |
723 | E>Q | No |
ClinGen gnomAD |
|
|
rs905751177 CA229771854 |
724 | E>G | No |
ClinGen Ensembl |
|
|
rs1343750183 CA383003978 |
726 | C>Y | No |
ClinGen TOPMed |
|
|
rs1440121018 CA383003995 |
728 | V>A | No |
ClinGen gnomAD |
|
|
CA383004020 rs1328306404 |
730 | R>S | No |
ClinGen TOPMed |
|
|
CA383004023 rs759885937 |
731 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759885937 CA6324589 |
731 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324590 rs772370205 |
732 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383004030 rs1161360467 |
732 | T>S | No |
ClinGen gnomAD |
|
|
CA383004045 rs1387480740 |
734 | H>R | No |
ClinGen TOPMed |
|
|
CA6324594 rs750428619 |
740 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383004090 rs192719576 |
741 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192719576 CA6324596 |
741 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774138945 CA383004112 |
742 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA383004143 rs1461672447 |
747 | A>T | No |
ClinGen gnomAD |
|
|
rs759270093 CA6324616 |
749 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236322198 CA383004189 |
753 | S>N | No |
ClinGen gnomAD |
|
|
CA6324617 rs767203857 |
754 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA383004210 rs1365757665 |
756 | E>Q | No |
ClinGen gnomAD |
|
|
rs755690603 CA6324619 |
758 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755690603 CA383004226 |
758 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs374683182 CA6324620 |
760 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA229772660 rs899029142 |
762 | L>I | No |
ClinGen TOPMed |
|
|
rs757868732 CA6324622 |
765 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs746245917 CA6324624 |
766 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6324625 rs758851913 |
767 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1309609721 CA383004295 |
768 | N>S | No |
ClinGen gnomAD |
|
|
CA383004345 rs200930070 |
775 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6324627 rs375027951 |
775 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375027951 CA229772686 |
775 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324628 rs768714725 |
777 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1008866791 CA229772706 |
783 | P>H | No |
ClinGen Ensembl |
|
|
CA383004392 rs1256069863 |
783 | P>S | No |
ClinGen gnomAD |
|
|
CA6324630 rs748160452 |
784 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA383004399 rs1196096062 |
784 | C>Y | No |
ClinGen gnomAD |
|
|
CA6324631 rs770870380 |
787 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA383004444 rs1450037738 |
790 | E>A | No |
ClinGen gnomAD |
|
|
CA6324632 rs774331102 |
792 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs747196033 CA229773342 |
796 | F>L | No |
ClinGen gnomAD |
|
|
CA6324643 rs751033782 |
800 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1353954281 CA383004545 |
803 | V>I | No |
ClinGen gnomAD |
|
|
rs139838435 CA6324644 |
804 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6324646 rs377349239 |
810 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383004599 rs1429583586 |
811 | Q>H | No |
ClinGen gnomAD |
|
|
CA6324647 rs371000630 |
815 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6324648 rs781334964 |
818 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1424404892 CA383004664 |
821 | G>E | No |
ClinGen gnomAD |
|
|
rs1365744254 CA383004682 |
824 | S>L | No |
ClinGen gnomAD |
|
|
CA6324654 rs374560228 |
829 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771854554 CA6324653 |
829 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229773441 rs759395368 |
833 | S>A | No |
ClinGen Ensembl |
|
|
CA383004760 rs1380567906 |
836 | E>G | No |
ClinGen gnomAD |
|
|
CA383004776 rs1283028135 |
838 | I>T | No |
ClinGen TOPMed |
|
|
CA383004781 rs1211298257 |
839 | L>F | No |
ClinGen TOPMed |
|
|
rs779795252 CA6324671 |
843 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229774367 rs983808939 |
845 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1261359704 CA383004841 |
846 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1394118357 CA383004867 |
849 | M>I | No |
ClinGen TOPMed |
|
|
CA229774376 rs970812997 |
851 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746949752 CA6324672 |
852 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768635441 CA6324673 |
853 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6324674 rs199765525 |
855 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383004911 rs1487278476 |
856 | N>S | No |
ClinGen TOPMed |
|
|
CA6324676 rs190209882 |
858 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1265196223 CA383004933 |
860 | V>I | No |
ClinGen TOPMed |
|
|
CA383004943 rs1468867958 |
861 | I>T | No |
ClinGen gnomAD |
|
|
rs1403303931 CA383004941 |
861 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6324678 COSM1183491 rs772855501 |
862 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA383004947 rs772855501 |
862 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA229774406 rs754022271 |
863 | Q>H | No |
ClinGen Ensembl |
|
|
CA229774414 rs686830 |
864 | I>M | No |
ClinGen Ensembl |
|
|
CA6324679 rs762314593 |
870 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA382995044 rs1405914414 |
873 | S>G | No |
ClinGen Ensembl |
|
|
CA6324698 rs748967238 |
874 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382995063 rs748967238 |
874 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA229755912 COSM108323 rs143377563 |
875 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA382995072 rs143377563 |
875 | P>R | No |
ClinGen TOPMed |
|
|
rs139554623 CA229755906 COSM108029 |
875 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA382995113 rs1481902320 |
881 | K>T | No |
ClinGen TOPMed |
|
|
rs1309606165 CA382995137 |
884 | A>V | No |
ClinGen gnomAD |
|
|
rs557470105 CA6324700 |
885 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382995144 rs1266320519 |
886 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs760056981 CA6324701 |
886 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA382995176 rs1263115065 |
890 | N>S | No |
ClinGen TOPMed |
|
|
rs1474365340 CA382995189 |
892 | P>A | No |
ClinGen gnomAD |
|
|
rs1167233718 CA382995193 |
892 | P>R | No |
ClinGen gnomAD |
|
|
rs1431386943 CA382995251 |
897 | M>K | No |
ClinGen gnomAD |
|
|
rs1365120600 CA382995308 |
901 | R>C | No |
ClinGen gnomAD |
|
|
rs760970471 CA6324704 |
901 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1324730799 CA382995390 |
907 | R>* | No |
ClinGen gnomAD |
|
|
rs754072463 CA6324706 |
907 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200915672 CA6324707 |
909 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413576216 CA382995435 |
910 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1364777641 CA382995446 |
911 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777028519 CA6324725 |
917 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA382995707 rs1485754576 |
922 | R>H | No |
ClinGen TOPMed |
|
|
rs763185435 CA6324729 |
934 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA382995902 rs1217536184 |
937 | L>F | No |
ClinGen TOPMed |
|
|
rs1279050960 CA382996027 |
947 | I>V | No |
ClinGen TOPMed |
|
|
CA229758746 rs926350763 |
952 | E>A | No |
ClinGen TOPMed |
|
|
rs770046238 CA6324749 |
954 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229758769 rs1056031161 |
954 | P>R | No |
ClinGen Ensembl |
|
|
rs773639284 CA6324750 |
955 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917577520 CA382996208 |
959 | K>N | No |
ClinGen TOPMed |
|
|
CA382996223 rs1004048487 |
961 | K>N | No |
ClinGen TOPMed |
|
|
CA229758791 rs1038250008 |
967 | C>F | No |
ClinGen Ensembl |
|
|
CA229758799 rs898364671 |
968 | R>C | No |
ClinGen gnomAD |
|
|
rs1364057590 CA382996273 |
968 | R>H | No |
ClinGen gnomAD |
|
|
CA229758802 rs997072610 |
969 | Q>R | No |
ClinGen Ensembl |
|
|
CA382996299 rs1382720290 |
972 | N>S | No |
ClinGen gnomAD |
|
|
rs2305013 CA229758815 |
973 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_020191 rs2305013 CA6324751 |
973 | Y>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6324774 rs767481639 |
986 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767481639 CA382996803 |
986 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776697048 CA6324775 |
992 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6324776 rs761621465 |
992 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs766559873 COSM923957 CA229761390 |
993 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6324777 COSM1676511 rs34726241 |
993 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6324778 rs750167881 |
998 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382996975 rs1449780596 |
1000 | K>R | No |
ClinGen TOPMed |
|
|
CA382996983 rs1435753653 |
1001 | L>M | No |
ClinGen gnomAD |
|
|
rs1183174365 CA382997007 |
1004 | Y>S | No |
ClinGen TOPMed |
|
|
CA382997014 rs1239254628 |
1005 | P>S | No |
ClinGen TOPMed |
|
|
rs999556699 CA229761410 |
1006 | N>Y | No |
ClinGen TOPMed |
|
|
CA382997389 rs1303225052 |
1012 | N>S | No |
ClinGen gnomAD |
|
|
CA382997419 rs1391785161 |
1016 | T>R | No |
ClinGen TOPMed |
|
|
rs999484623 CA229762419 |
1017 | K>E | No |
ClinGen gnomAD |
|
|
CA6324793 rs201397693 |
1018 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382997450 rs1591638492 |
1020 | M>I | No |
ClinGen Ensembl |
|
|
rs1306605742 CA382997443 |
1020 | M>V | No |
ClinGen gnomAD |
|
|
rs1195857306 CA382997458 |
1022 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1195857306 CA382997460 |
1022 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs762797423 CA6324797 |
1033 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA382997558 rs1395371294 |
1036 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1395371294 CA382997559 |
1036 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1407998741 CA382997605 |
1040 | T>M | No |
ClinGen gnomAD |
|
|
CA382997636 rs1431886062 |
1045 | D>G | No |
ClinGen gnomAD |
|
|
rs879066296 CA229763042 |
1052 | K>Q | No |
ClinGen Ensembl |
|
|
CA229763058 rs951514826 |
1058 | V>A | No |
ClinGen TOPMed |
|
|
rs1299413491 CA382997779 |
1065 | I>S | No |
ClinGen gnomAD |
|
|
rs374530160 CA6324827 |
1070 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382997829 rs1214288914 |
1073 | K>R | No |
ClinGen gnomAD |
|
|
rs200879076 CA6324828 |
1075 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6324832 rs758649305 |
1078 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780078413 CA6324833 |
1081 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA382997881 rs1450523170 |
1081 | K>Q | No |
ClinGen gnomAD |
|
|
rs962738363 CA229763104 |
1081 | K>R | No |
ClinGen Ensembl |
|
|
CA6324835 rs768766742 |
1086 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6324836 rs781231580 |
1088 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1390597927 CA382997950 |
1092 | T>A | No |
ClinGen gnomAD |
|
|
rs1451148218 CA382997953 |
1092 | T>I | No |
ClinGen gnomAD |
|
|
rs370459728 CA6324859 |
1099 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6324860 rs771801249 |
1102 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs199514536 CA6324861 |
1105 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM278963 CA382998248 rs1339463961 |
1107 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA229763936 rs1033376858 |
1113 | V>M | No |
ClinGen Ensembl |
|
|
CA229763946 rs374162884 |
1116 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374162884 CA382998321 |
1116 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6324862 rs746681480 |
1118 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs768378672 CA6324863 |
1121 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382998388 COSM923961 rs776281342 |
1122 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776281342 CA6324864 |
1122 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA382998534 rs1055835938 |
1126 | L>V | No |
ClinGen TOPMed |
|
|
rs1479521439 CA382998564 |
1128 | C>Y | No |
ClinGen gnomAD |
|
|
rs371914919 CA6324892 |
1129 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774712795 CA6324893 |
1131 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368262946 CA382998683 |
1139 | T>A | No |
ClinGen gnomAD |
|
|
CA6324894 rs759952820 |
1140 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382998702 rs373986103 |
1142 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6324895 rs373986103 |
1142 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382998707 rs1565513099 |
1143 | P>S | No |
ClinGen Ensembl |
|
|
rs906452588 CA229764409 |
1146 | Q>E | No |
ClinGen TOPMed |
|
|
rs1591641839 CA382998740 |
1148 | T>A | No |
ClinGen Ensembl |
|
|
CA382998750 rs1384629627 |
1149 | P>L | No |
ClinGen gnomAD |
|
|
CA6324897 rs573127917 |
1151 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528014894 CA6324932 |
1152 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382998780 rs528014894 |
1152 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA229764715 rs376821705 |
1153 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324933 rs376821705 |
1153 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382998811 rs1160185961 |
1156 | E>D | No |
ClinGen Ensembl |
|
|
CA382998818 rs1190914282 |
1157 | E>D | No |
ClinGen gnomAD |
|
|
CA6324934 rs201575311 |
1158 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382998848 rs1294484996 |
1162 | L>V | No |
ClinGen gnomAD |
|
|
rs1459038118 CA382998858 |
1163 | K>R | No |
ClinGen gnomAD |
|
|
rs376201035 CA6324938 |
1164 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6324939 rs746394469 |
1165 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6324940 rs772527345 |
1166 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA382998877 rs772527345 |
1166 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs761038474 CA6324942 |
1167 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA382998893 rs1395634626 |
1168 | G>D | No |
ClinGen gnomAD |
|
|
rs1313761136 CA382998924 |
1173 | G>D | No |
ClinGen gnomAD |
|
|
rs1046663120 CA229764747 |
1174 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs549863916 CA6324943 |
1175 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1209704438 CA382998950 |
1177 | P>S | No |
ClinGen TOPMed |
|
|
CA382998954 rs1267978061 |
1178 | D>N | No |
ClinGen gnomAD |
|
|
CA6324968 rs766368379 |
1181 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428096215 CA382998997 |
1182 | G>* | No |
ClinGen gnomAD |
|
|
CA382999021 rs1411810687 |
1185 | S>F | No |
ClinGen gnomAD |
|
|
rs377573247 CA6324972 |
1187 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6324973 rs756903663 |
1188 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA229765420 rs986094940 |
1191 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6324975 rs750062415 |
1191 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229765426 rs958686729 |
1194 | S>F | No |
ClinGen TOPMed |
|
|
CA6324977 rs779399503 |
1195 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229765429 rs910191290 |
1195 | H>Y | No |
ClinGen TOPMed |
|
|
rs1244849823 CA382999148 |
1199 | T>A | No |
ClinGen gnomAD |
|
|
CA382999177 rs1488129638 |
1201 | G>E | No |
ClinGen gnomAD |
|
|
rs748466006 CA6324981 |
1206 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367746003 CA6324982 |
1206 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773639412 CA6324983 |
1209 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA382999298 rs1321687916 |
1211 | A>T | No |
ClinGen gnomAD |
|
|
rs73584138 CA6324985 |
1214 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760695531 CA382999360 |
1215 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382999362 rs1262109881 |
1215 | F>L | No |
ClinGen TOPMed |
|
|
CA6324987 rs760695531 |
1215 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565514427 CA382999373 |
1216 | A>V | No |
ClinGen Ensembl |
|
|
rs1214010247 CA382999404 |
1219 | Q>K | No |
ClinGen TOPMed |
|
|
rs549800641 CA6324988 |
1219 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6324990 rs776420216 |
1220 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6324989 rs776420216 |
1220 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA382999454 rs1287167789 |
1222 | D>G | No |
ClinGen gnomAD |
|
|
rs750114841 CA382999466 |
1223 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750114841 CA6324992 |
1223 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368916583 CA382999459 |
1223 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6324993 rs775612778 |
1224 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755522930 CA6324996 |
1226 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229765530 rs931088206 |
1226 | K>Q | No |
ClinGen Ensembl |
|
|
CA382999520 rs781779257 |
1228 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6324997 rs781779257 |
1228 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1054552438 CA229765535 |
1229 | G>A | No |
ClinGen TOPMed |
|
|
CA382999544 rs1398398316 |
1230 | E>K | No |
ClinGen TOPMed |
|
|
CA6324998 rs753255637 |
1231 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189417708 CA6324999 RCV000970235 |
1232 | Y>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1040984527 CA229765540 |
1234 | I>V | No |
ClinGen Ensembl |
|
|
rs368252799 CA6325000 |
1235 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382999609 rs1565514547 |
1235 | A>V | No |
ClinGen Ensembl |
|
|
rs771016361 CA6325002 |
1236 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771016361 CA382999612 |
1236 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749546164 CA6325001 |
1236 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746403035 CA229765607 |
1238 | D>A | No |
ClinGen Ensembl |
|
|
rs375546425 CA6325005 |
1238 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375546425 CA6325004 |
1238 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761706545 CA6325007 |
1240 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6325006 rs547540668 |
1240 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6325008 rs769624442 |
1242 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs368708594 CA6325010 |
1245 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6325011 rs765891726 |
1246 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382999732 rs765891726 |
1246 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325012 rs751212343 |
1247 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327014860 CA382999740 |
1247 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6325013 rs759035837 |
1249 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325033 rs372794084 |
1257 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431811410 CA383000136 |
1262 | L>F | No |
ClinGen TOPMed |
|
|
CA383000131 rs1172377070 |
1262 | L>V | No |
ClinGen gnomAD |
|
|
CA383000137 rs1177066994 |
1263 | L>M | No |
ClinGen TOPMed |
|
|
rs775102720 CA6325036 |
1264 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6325035 rs775102720 |
1264 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1314376199 CA383000158 |
1266 | Q>R | No |
ClinGen gnomAD |
|
|
rs541688108 CA6325037 |
1267 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6325038 rs754352284 |
1268 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325039 rs757625803 |
1269 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765604885 CA6325040 |
1270 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1345500903 CA383000196 |
1272 | K>N | No |
ClinGen gnomAD |
|
|
rs758565812 CA6325042 |
1273 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA229766851 rs370971203 |
1273 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747035508 COSM3356167 CA6325044 |
1274 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA383000204 rs747035508 |
1274 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755039629 CA6325045 |
1277 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6325046 rs777640146 |
1279 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs770685105 CA6325048 |
1280 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383000260 rs1378545540 |
1281 | F>C | No |
ClinGen gnomAD |
|
|
CA6325049 rs774150370 |
1282 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs369525004 CA6325050 |
1283 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1335463083 CA383000278 |
1284 | Y>C | No |
ClinGen Ensembl |
|
|
CA6325051 rs771786000 |
1285 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6325052 rs775151706 |
1286 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1398490971 CA383000296 |
1287 | A>D | No |
ClinGen gnomAD |
|
|
CA383000294 rs1298270796 |
1287 | A>S | No |
ClinGen gnomAD |
|
|
rs759092726 CA6325054 |
1288 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383000303 rs759092726 |
1288 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383000323 rs1442916205 |
1291 | P>L | No |
ClinGen gnomAD |
|
|
rs762358343 CA6325056 |
1293 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383000335 rs765541684 |
1293 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765541684 CA6325057 |
1293 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354384872 CA383000343 |
1294 | D>E | No |
ClinGen gnomAD |
|
|
rs1234576488 CA383000347 |
1295 | S>N | No |
ClinGen gnomAD |
|
|
CA383000351 rs1268739919 |
1295 | S>R | No |
ClinGen gnomAD |
|
|
rs1209746890 CA383000344 |
1295 | S>R | No |
ClinGen gnomAD |
|
|
CA383000356 rs1470107126 |
1296 | V>G | No |
ClinGen gnomAD |
|
|
rs956728353 CA229766920 |
1297 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA383000359 rs956728353 |
1297 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1245763307 CA383000386 |
1301 | E>K | No |
ClinGen gnomAD |
|
|
CA6325058 rs750758334 |
1303 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs766648219 CA6325060 |
1304 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs751776592 CA6325061 |
1305 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755091068 CA6325062 |
1305 | A>V | No |
ClinGen ExAC |
|
|
rs148969251 CA6325064 |
1306 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760687378 CA6325065 COSM3710117 |
1309 | G>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA383000445 rs1352952110 |
1310 | E>K | No |
ClinGen TOPMed |
|
|
rs1318320362 CA383000457 |
1311 | G>V | No |
ClinGen gnomAD |
|
|
rs1172686701 CA383000462 |
1312 | H>R | No |
ClinGen TOPMed |
|
|
CA229766934 rs764021141 |
1312 | H>Y | No |
ClinGen Ensembl |
|
|
CA6325067 rs371409714 |
1313 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6325066 rs371409714 |
1313 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA229766954 rs371409714 |
1313 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382961784 CA383000488 |
1314 | P>R | No |
ClinGen gnomAD |
|
|
rs1298065269 CA383000501 |
1315 | F>C | No |
ClinGen gnomAD |
|
|
CA383000494 rs1182301994 |
1315 | F>V | No |
ClinGen TOPMed |
|
|
CA229766976 rs373490029 |
1320 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383000583 rs1206679789 |
1321 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs746626082 CA6325070 |
1322 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6325071 rs768099529 |
1322 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1465668857 CA383000645 |
1326 | Y>C | No |
ClinGen gnomAD |
|
|
CA6325074 rs770268450 |
1329 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs770268450 CA383000687 |
1329 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6325073 rs762256988 |
1329 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1254663039 CA383000699 |
1330 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773580407 CA6325075 |
1332 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1252684515 CA383000717 |
1332 | T>P | No |
ClinGen TOPMed |
|
|
CA6325077 rs200948494 |
1334 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927182430 CA229767026 |
1335 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200873841 CA6325078 |
1338 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6325079 rs759709308 |
1340 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA383000856 rs1400348306 |
1343 | L>P | No |
ClinGen gnomAD |
|
|
CA383000909 rs1288332796 |
1347 | D>G | No |
ClinGen gnomAD |
|
|
rs1227068362 CA383000905 |
1347 | D>Y | No |
ClinGen gnomAD |
|
|
rs750379086 CA6325084 |
1353 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383389390 CA383000991 |
1354 | L>S | No |
ClinGen TOPMed |
|
|
rs1022669620 CA383001008 |
1356 | M>K | No |
ClinGen gnomAD |
|
|
CA229767085 rs1022669620 |
1356 | M>T | No |
ClinGen gnomAD |
|
|
rs1262063785 CA383001088 |
1361 | M>T | No |
ClinGen gnomAD |
|
|
rs971463043 CA229767092 |
1363 | P>A | No |
ClinGen Ensembl |
|
|
CA383001114 rs1482084312 |
1363 | P>R | No |
ClinGen gnomAD |
|
|
CA6325085 rs367847208 |
1364 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6325087 rs370532305 |
1365 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6325086 rs578045148 |
1365 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1179913984 CA383001148 |
1366 | P>A | No |
ClinGen gnomAD |
|
|
CA383001218 rs1371526463 |
1371 | E>Q | No |
ClinGen TOPMed |
|
|
CA383001239 rs1430580095 |
1372 | G>E | No |
ClinGen TOPMed |
|
|
rs768313745 CA6325088 |
1372 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325089 rs576306121 |
1373 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325091 rs769184861 |
1375 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6325092 rs773749077 |
1376 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs763429847 CA6325093 |
1377 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375049885 CA229767130 |
1377 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6325094 rs771311894 |
1378 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6325095 rs774661980 |
1379 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383001335 rs1299684052 |
1380 | H>N | No |
ClinGen gnomAD |
|
|
rs767724352 CA6325097 |
1380 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6325098 rs752846941 |
1383 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6325099 rs760873730 |
1384 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA383001400 rs760873730 |
1384 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368422427 CA6325100 |
1384 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs750431916 CA6325101 |
1385 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750431916 CA383001411 |
1385 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758361324 CA6325102 |
1385 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs758361324 CA6325103 |
1385 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA6325104 rs751330175 |
1387 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229767248 rs541982805 |
1387 | A>V | No |
ClinGen Ensembl |
|
|
rs1480934260 CA383001445 |
1388 | H>R | No |
ClinGen gnomAD |
|
|
CA383001461 rs1266193187 |
1389 | S>T | No |
ClinGen TOPMed |
|
|
CA6325107 rs780966834 |
1390 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6325108 rs780966834 |
1390 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6325109 rs777217271 |
1391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771365337 CA6325111 |
1393 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA383001520 rs771365337 |
1393 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA383001546 rs1442033853 |
1395 | E>K | No |
ClinGen gnomAD |
|
|
rs1427835586 CA383001562 |
1396 | G>D | No |
ClinGen gnomAD |
|
|
CA383001587 rs1357026874 |
1398 | G>A | No |
ClinGen TOPMed |
|
|
CA383001582 rs1168061026 COSM93912 |
1398 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1591646749 CA383001610 |
1400 | V>D | No |
ClinGen Ensembl |
|
|
rs774714727 CA6325112 |
1402 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6325113 rs746305640 |
1404 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772316343 CA6325114 |
1405 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1303607844 CA383001657 |
1406 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1307381716 CA383001652 |
1406 | D>N | No |
ClinGen TOPMed |
|
|
rs1303607844 CA383001655 |
1406 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757067729 CA6325115 |
1410 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs202128571 CA6325116 |
1410 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202128571 CA6325117 |
1410 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383001693 rs1406827928 |
1412 | S>A | No |
ClinGen TOPMed |
|
|
CA6325131 rs746327315 |
1413 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6325132 rs772532659 |
1415 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383001959 rs1484062308 |
1418 | L>F | No |
ClinGen TOPMed |
|
|
rs1192668978 CA383001976 |
1419 | D>G | No |
ClinGen gnomAD |
|
|
CA6325134 rs747285492 |
1420 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA383002002 rs1180246695 |
1421 | Y>C | No |
ClinGen gnomAD |
|
|
CA383002017 rs1417743815 |
1422 | D>Y | No |
ClinGen gnomAD |
|
|
rs776862543 CA6325136 |
1423 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6325137 rs762041000 |
1424 | V>L | No |
ClinGen ExAC |
|
|
rs1400498900 CA383002115 |
1428 | S>F | No |
ClinGen gnomAD |
|
|
rs1317193397 CA383002131 |
1430 | D>Y | No |
ClinGen gnomAD |
|
|
rs1229087719 CA383002161 |
1432 | E>K | No |
ClinGen TOPMed |
|
|
CA6325141 rs767377084 |
1433 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs759343077 CA6325140 |
1433 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002215036 CA229767990 |
1434 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1565517853 CA383002202 |
1435 | S>P | No |
ClinGen Ensembl |
|
|
rs200465647 CA6325142 |
1438 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1295066751 CA383002270 |
1442 | M>I | No |
ClinGen gnomAD |
|
|
CA229768021 rs960781358 |
1442 | M>L | No |
ClinGen TOPMed |
|
|
CA383002274 rs1233525420 |
1443 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383002331 rs1285199635 |
1449 | E>A | No |
ClinGen gnomAD |
|
|
rs1425929795 CA383002364 |
1451 | T>I | No |
ClinGen TOPMed |
|
|
CA383002385 rs1208066078 |
1453 | Q>E | No |
ClinGen gnomAD |
|
|
rs369686811 CA229768041 |
1453 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486049750 CA383002400 |
1454 | Q>E | No |
ClinGen gnomAD |
|
|
rs1046960615 CA383002411 |
1454 | Q>H | No |
ClinGen gnomAD |
|
|
rs909814245 CA229768045 |
1455 | Q>P | No |
ClinGen TOPMed |
|
|
rs750960391 CA6325148 |
1456 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1490183623 CA383002471 |
1458 | P>L | No |
ClinGen TOPMed |
|
|
CA6325150 rs758788862 |
1458 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325151 rs780470146 |
1459 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs747277565 CA6325152 |
1462 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325154 rs567772094 |
1464 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1591648156 CA383002577 |
1466 | A>P | No |
ClinGen Ensembl |
|
|
CA6325156 rs770018669 |
1467 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383002599 rs1223461838 |
1468 | S>P | No |
ClinGen TOPMed |
|
|
CA6325157 rs773127995 |
1469 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352608148 CA383002620 |
1470 | F>L | No |
ClinGen gnomAD |
|
|
CA383002643 rs759526229 |
1471 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325158 rs759526229 |
1471 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383002659 rs1486039186 |
1473 | E>K | No |
ClinGen gnomAD |
|
|
CA383002669 rs1213188669 |
1473 | E>V | No |
ClinGen gnomAD |
|
|
CA383002698 rs1292304716 |
1475 | L>R | No |
ClinGen TOPMed |
|
|
rs750994161 CA6325159 |
1476 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775488692 CA6325160 |
1477 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329070661 CA383002734 |
1478 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs371260313 CA6325161 |
1479 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6325162 rs191576794 |
1479 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6325163 rs753533555 |
1480 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6325164 rs761403386 |
1481 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383002780 rs1407433778 |
1482 | A>S | No |
ClinGen gnomAD |
|
|
CA6325165 rs764831562 |
1483 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434783218 CA383002803 |
1485 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA229768215 rs572010079 |
1487 | C>* | No |
ClinGen 1000Genomes |
|
|
rs1175024264 CA383002814 |
1487 | C>S | No |
ClinGen gnomAD |
|
|
rs1295101123 CA383002834 |
1489 | E>G | No |
ClinGen gnomAD |
|
|
rs1565518282 CA383002852 |
1492 | S>R | No |
ClinGen Ensembl |
|
|
rs796527405 CA229768249 |
1494 | S>F | No |
ClinGen Ensembl |
|
|
CA6325167 rs769991507 |
1495 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1002911306 CA383002879 |
1496 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1002911306 CA229768282 |
1496 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1438531834 CA383002885 |
1497 | A>T | No |
ClinGen gnomAD |
|
|
rs780483963 CA6325168 |
1497 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6325169 rs752101632 |
1498 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383002896 rs1236550351 |
1499 | S>P | No |
ClinGen gnomAD |
|
|
rs1236550351 CA383002895 |
1499 | S>T | No |
ClinGen gnomAD |
|
|
CA6325170 rs755443657 |
1502 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325171 rs781648759 |
1504 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs1275727347 CA383002951 |
1506 | Y>C | No |
ClinGen gnomAD |
|
|
rs770075241 CA6325173 |
1507 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383002961 rs1193464180 |
1508 | H>N | No |
ClinGen gnomAD |
|
|
rs777925795 CA6325174 |
1508 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383002964 rs1251962089 |
1508 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383002977 rs1195141252 |
1510 | I>V | No |
ClinGen gnomAD |
|
|
rs1461052696 CA383002991 |
1512 | A>T | No |
ClinGen gnomAD |
|
|
CA6325177 rs771043189 |
1516 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383003023 rs1290447008 |
1516 | H>R | No |
ClinGen TOPMed |
|
|
rs769625980 CA6325201 |
1520 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6325202 rs769625980 |
1520 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383003321 rs1258561943 |
1523 | S>G | No |
ClinGen gnomAD |
|
|
CA383003373 rs1205388744 |
1526 | I>T | No |
ClinGen gnomAD |
|
|
CA229770714 rs893148311 |
1527 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs765838589 CA6325204 |
1528 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs773933638 CA6325205 |
1528 | C>Y | No |
ClinGen ExAC |
|
|
CA383003445 rs768200477 |
1532 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6325207 rs768200477 |
1532 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753255199 CA6325208 |
1533 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs756480281 CA6325209 |
1535 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454462950 CA383003482 |
1535 | A>V | No |
ClinGen gnomAD |
|
|
rs764501839 CA6325210 |
1536 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1414321082 CA383003517 |
1538 | D>E | No |
ClinGen gnomAD |
|
|
rs754025615 CA6325211 |
1538 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757456504 CA6325212 |
1539 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1298657451 CA383003682 |
1542 | D>G | No |
ClinGen gnomAD |
|
|
rs1313460608 CA383003693 |
1543 | K>N | No |
ClinGen gnomAD |
|
|
CA383003697 rs1565521802 |
1544 | S>N | No |
ClinGen Ensembl |
1 associated diseases with Q9NZN5
Without disease ID
8 regional properties for Q9NZN5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 787 - 977 | IPR000219 |
| conserved_site | Guanine-nucleotide dissociation stimulator, CDC24, conserved site | 926 - 951 | IPR001331 |
| domain | PDZ domain | 72 - 148 | IPR001478 |
| domain | Pleckstrin homology domain | 1019 - 1134 | IPR001849 |
| domain | Regulator of G protein signalling-like domain | 368 - 558 | IPR015212 |
| domain | ARHGEF12, PH domain | 995 - 1132 | IPR037801 |
| domain | LARG, RGS domain | 349 - 570 | IPR037884 |
| domain | ARHGEF1-like, PH domain | 1005 - 1129 | IPR041020 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR45872 | RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2, ISOFORM D |
| PANTHER Subfamily | PTHR45872:SF3 | RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12 |
| PANTHER Protein Class |
guanyl-nucleotide exchange factor
G-protein modulator protein-binding activity modulator |
|
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled receptor binding | Binding to a G protein-coupled receptor. |
| 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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q92974 | ARHGEF2 | Rho guanine nucleotide exchange factor 2 | Homo sapiens (Human) | PR |
| O15085 | ARHGEF11 | Rho guanine nucleotide exchange factor 11 | Homo sapiens (Human) | EV |
| Q60875 | Arhgef2 | Rho guanine nucleotide exchange factor 2 | Mus musculus (Mouse) | PR |
| Q8R4H2 | Arhgef12 | Rho guanine nucleotide exchange factor 12 | Mus musculus (Mouse) | SS |
| Q9ES67 | Arhgef11 | Rho guanine nucleotide exchange factor 11 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGTQSTITD | RFPLKKPIRH | GSILNRESPT | DKKQKVERIA | SHDFDPTDSS | SKKTKSSSEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SRSEIYGLVQ | RCVIIQKDDN | GFGLTVSGDN | PVFVQSVKED | GAAMRAGVQT | GDRIIKVNGT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVTHSNHLEV | VKLIKSGSYV | ALTVQGRPPG | SPQIPLADSE | VEPSVIGHMS | PIMTSPHSPG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ASGNMERITS | PVLMGEENNV | VHNQKVEILR | KMLQKEQERL | QLLQEDYNRT | PAQRLLKEIQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EAKKHIPQLQ | EQLSKATGSA | QDGAVVTPSR | PLGDTLTVSE | AETDPGDVLG | RTDCSSGDAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RPSSDNADSP | KSGPKERIYL | EENPEKSETI | QDTDTQSLVG | SPSTRIAPHI | IGAEDDDFGT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EHEQINGQCS | CFQSIELLKS | RPAHLAVFLH | HVVSQFDPAT | LLCYLYSDLY | KHTNSKETRR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IFLEFHQFFL | DRSAHLKVSV | PDEMSADLEK | RRPELIPEDL | HRHYIQTMQE | RVHPEVQRHL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EDFRQKRSMG | LTLAESELTK | LDAERDKDRL | TLEKERTCAE | QIVAKIEEVL | MTAQAVEEDK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSTMQYVILM | YMKHLGVKVK | EPRNLEHKRG | RIGFLPKIKQ | SMKKDKEGEE | KGKRRGFPSI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LGPPRRPSRH | DNSAIGRAME | LQKARHPKHL | STPSSVSPEP | QDSAKLRQSG | LANEGTDAGY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LPANSMSSVA | SGASFSQEGG | KENDTGSKQV | GETSAPGDTL | DGTPRTLNTV | FDFPPPPLDQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VQEEECEVER | VTEHGTPKPF | RKFDSVAFGE | SQSEDEQFEN | DLETDPPNWQ | QLVSREVLLG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LKPCEIKRQE | VINELFYTER | AHVRTLKVLD | QVFYQRVSRE | GILSPSELRK | IFSNLEDILQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LHIGLNEQMK | AVRKRNETSV | IDQIGEDLLT | WFSGPGEEKL | KHAAATFCSN | QPFALEMIKS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RQKKDSRFQT | FVQDAESNPL | CRRLQLKDII | PTQMQRLTKY | PLLLDNIAKY | TEWPTEREKV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KKAADHCRQI | LNYVNQAVKE | AENKQRLEDY | QRRLDTSSLK | LSEYPNVEEL | RNLDLTKRKM |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| IHEGPLVWKV | NRDKTIDLYT | LLLEDILVLL | QKQDDRLVLR | CHSKILASTA | DSKHTFSPVI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KLSTVLVRQV | ATDNKALFVI | SMSDNGAQIY | ELVAQTVSEK | TVWQDLICRM | AASVKEQSTK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PIPLPQSTPG | EGDNDEEDPS | KLKEEQHGIS | VTGLQSPDRD | LGLESTLISS | KPQSHSLSTS |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GKSEVRDLFV | AERQFAKEQH | TDGTLKEVGE | DYQIAIPDSH | LPVSEERWAL | DALRNLGLLK |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| QLLVQQLGLT | EKSVQEDWQH | FPRYRTASQG | PQTDSVIQNS | ENIKAYHSGE | GHMPFRTGTG |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| DIATCYSPRT | STESFAPRDS | VGLAPQDSQA | SNILVMDHMI | MTPEMPTMEP | EGGLDDSGEH |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| FFDAREAHSD | ENPSEGDGAV | NKEEKDVNLR | ISGNYLILDG | YDPVQESSTD | EEVASSLTLQ |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| PMTGIPAVES | THQQQHSPQN | THSDGAISPF | TPEFLVQQRW | GAMEYSCFEI | QSPSSCADSQ |
| 1510 | 1520 | 1530 | 1540 | ||
| SQIMEYIHKI | EADLEHLKKV | EESYTILCQR | LAGSALTDKH | SDKS |