P78314
PR
Gene name |
SH3BP2 (3BP2, RES4-23) |
Protein name |
SH3 domain-binding protein 2 |
Names |
3BP-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6452 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for P78314
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2CR4 | NMR | - | A | 446-558 | PDB |
| 3TWR | X-ray | 155 A | E/F/G/H | 410-425 | PDB |
| AF-P78314-F1 | Predicted | AlphaFoldDB |
574 variants for P78314
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs370829171 RCV001044948 CA2818882 |
5 | E>D | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814840 rs746804160 |
6 | M>missing | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629249 rs148117486 CA2818886 |
12 | M>V | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070520 rs1724253944 |
24 | P>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2818892 rs200207198 RCV000318979 |
27 | V>M | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000705903 rs368574144 CA91403459 |
43 | L>V | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA2818928 rs758096402 RCV001149632 |
56 | R>C | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687220 rs779608979 CA2818929 |
56 | R>H | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775642148 RCV001065933 CA2818938 |
69 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000344615 rs147432096 CA2818946 |
80 | R>Q | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000309185 rs142051964 CA2819000 RCV000890353 |
100 | H>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000885004 CA915942989 rs1577359424 |
100 | H>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2819002 rs760277294 RCV001209467 |
106 | R>C | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001239341 rs1724499985 |
114 | S>C | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356054021 rs1577360228 RCV000801553 |
133 | H>N | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000315132 CA10618584 rs886059355 |
133 | H>P | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777468144 CA2819066 RCV000629246 |
137 | D>G | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2819177 rs150461713 RCV000261336 |
147 | S>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1724717798 RCV001213395 |
153 | Y>N | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001574057 CA2819184 RCV000357245 rs35313240 RCV001702622 |
155 | A>V | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000265353 CA2819186 RCV002520235 rs200463050 |
158 | R>W | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819188 rs773270775 RCV001235245 |
160 | V>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2819191 rs774240293 RCV000908350 |
164 | L>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs567769591 CA2819192 RCV000320509 COSM1054795 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium Fibrous dysplasia of jaw [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001317335 RCV002543723 CA2819194 rs201786792 |
169 | T>M | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2819197 RCV000822247 rs143236581 |
171 | N>S | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779050688 CA2819228 RCV001204633 |
176 | H>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147001821 CA2819241 RCV000798484 |
189 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147001821 RCV001066405 CA2819242 |
189 | P>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819243 rs761070963 RCV001208983 |
190 | E>K | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001338718 rs921887620 CA91411147 |
202 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356055588 RCV000822806 rs1281385097 RCV002267030 |
209 | V>M | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1225564 RCV001036769 CA2819281 rs375942374 |
211 | T>M | large_intestine Fibrous dysplasia of jaw [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819285 rs139934973 RCV000970104 |
215 | P>T | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000346025 rs150572069 CA2819290 |
219 | D>V | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819296 rs769244623 RCV000821499 |
230 | G>C | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806751 rs369270340 CA2819300 |
238 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695856 rs747250901 |
242 | H>missing | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356056055 rs1308552287 RCV000692052 |
252 | E>K | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001202019 rs1211847666 CA356056071 |
254 | S>P | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs753445987 RCV000796951 CA2819312 |
257 | D>E | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000893505 rs146213141 CA2819313 |
261 | P>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819321 RCV000703808 rs148592718 |
268 | P>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001234454 rs373481284 CA2819323 |
273 | T>A | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001220508 CA91411295 rs766045804 |
282 | L>Q | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2819340 RCV000822645 rs756606586 |
288 | A>T | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002551427 rs757550176 RCV001038582 CA2819343 |
290 | G>S | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA91411377 rs1042293143 COSM1225565 RCV001239551 |
298 | R>Q | large_intestine Fibrous dysplasia of jaw [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA2819350 RCV001223714 rs776406405 |
298 | R>W | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2819355 RCV001063507 rs146469368 |
303 | P>A | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819356 rs555463039 RCV001302436 |
305 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs147908313 CA2819359 RCV000692115 |
311 | G>D | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819361 RCV000292514 rs141518457 |
313 | G>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371366593 RCV000811375 CA2819364 RCV002537354 |
317 | T>I | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1724884429 RCV001347992 |
320 | A>G | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302660 CA2819372 rs773105147 |
336 | S>F | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356056847 RCV000797638 rs1317170986 |
345 | P>A | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356056870 rs1274772239 RCV001232137 |
347 | S>P | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001063528 RCV002553942 rs1724890588 |
351 | P>R | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003169694 RCV001347008 CA356057112 rs1453717053 |
366 | D>G | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1560111269 RCV001345166 |
368 | P>missing | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802504 rs781072584 CA2819387 |
368 | P>Q | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356057187 RCV001327265 rs1242360913 |
373 | M>V | Variant assessed as Somatic; impact. Fibrous dysplasia of jaw [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs375094936 CA2819390 RCV000352048 |
375 | G>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001238540 rs1724895905 |
377 | F>S | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1724896293 RCV001219164 |
378 | V>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209749 rs759054470 CA2819395 |
379 | P>S | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002520236 RCV000400486 rs201966956 CA2819397 |
381 | V>M | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819400 RCV000334833 rs143129053 |
384 | R>Q | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819399 RCV000298519 rs529543434 |
384 | R>W | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2819403 rs372762732 RCV001206771 |
387 | A>V | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001226352 rs1724900397 |
393 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247885 RCV002570362 rs777927746 |
395 | A>V | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749171361 RCV000558941 CA2819409 |
396 | M>T | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000700828 rs527342066 CA356057329 |
397 | A>G | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000629247 rs527342066 CA2819410 |
397 | A>V | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs745563984 CA2819412 RCV001297264 |
398 | R>W | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002066184 rs768146888 CA2819416 |
400 | A>T | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs376008602 CA2819422 RCV000813697 |
411 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs764213233 RCV001218705 CA2819425 |
412 | H>Y | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2819443 rs141262371 RCV001509230 RCV000817519 |
415 | R>* | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121909149 RCV001261154 |
415 | R>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_013257 CA254209 rs121909149 RCV000007986 |
415 | R>P | Fibrous dysplasia of jaw CRBM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_013258 CA254210 rs121909149 RCV000007987 |
415 | R>Q | Fibrous dysplasia of jaw CRBM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_013259 RCV000007985 rs121909146 CA254208 |
418 | P>H | Fibrous dysplasia of jaw CRBM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121909146 CA254206 VAR_013260 RCV000007983 |
418 | P>L | Fibrous dysplasia of jaw CRBM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121909146 RCV000486508 CA254207 VAR_013261 RCV000007984 |
418 | P>R | Fibrous dysplasia of jaw CRBM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10602925 rs757336022 RCV000293867 RCV001261155 |
418 | P>S | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757336022 CA2819446 RCV001070686 |
418 | P>T | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs28938171 CA254212 RCV000007989 VAR_013262 |
420 | G>E | Fibrous dysplasia of jaw CRBM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002523913 VAR_013263 CA254211 CA16042561 RCV000414728 rs28938170 RCV000007988 |
420 | G>R | Fibrous dysplasia of jaw CRBM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000407042 rs771719677 |
427 | S>missing | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240540 rs754582989 CA2819453 |
431 | P>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146202519 CA2819463 RCV001208982 |
441 | G>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs761864704 CA356057896 RCV000532856 |
442 | D>E | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1724992271 RCV002545601 RCV001349084 |
444 | S>T | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697635 rs1291034009 CA356057981 |
448 | Y>S | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199818232 CA2819496 RCV002520237 RCV000264563 |
456 | S>L | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001528511 CA2819495 rs145949614 RCV000882502 |
456 | S>P | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773282036 RCV001217712 CA2819500 |
461 | T>I | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001294872 rs201536400 CA2819501 |
462 | T>M | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001247803 CA91412627 rs946632787 |
466 | E>K | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746860671 CA2819543 RCV001267794 |
474 | T>I | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001529973 rs148761331 CA2819548 RCV000360517 RCV001706563 |
477 | R>W | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA91412897 RCV000807485 rs565191421 |
480 | P>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001038710 CA2819556 rs748160727 |
483 | G>A | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2819558 RCV000693032 rs373554386 |
488 | R>W | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819561 rs377411211 RCV000688436 |
494 | S>L | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819598 RCV002546151 rs767658389 RCV001325974 |
503 | E>K | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000269056 CA2819599 rs144577122 |
505 | S>C | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2819604 rs369562627 RCV000700244 |
512 | R>C | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001059645 CA2819605 rs373119331 RCV002553868 |
512 | R>H | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000936195 rs201983777 CA2819646 |
542 | V>M | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1030615203 RCV001337240 |
547 | Q>H | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802609 CA2819651 RCV002534718 rs151048521 |
552 | R>G | Fibrous dysplasia of jaw Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs374608155 RCV002537465 RCV000820362 CA2819652 |
552 | R>Q | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2819650 RCV000792423 RCV001573479 rs151048521 |
552 | R>W | Variant assessed as Somatic; 0.0 impact. Fibrous dysplasia of jaw [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1725134312 RCV001319039 |
554 | P>R | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201197278 RCV000629248 CA2819656 |
556 | G>S | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs776809624 CA2819657 RCV001315322 |
559 | G>W | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2819659 RCV001706689 rs190648042 RCV000629255 |
562 | R>W | Fibrous dysplasia of jaw [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1336877149 CA356052799 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1455119402 CA356052804 |
3 | A>G | No |
ClinGen gnomAD |
|
|
rs1192716202 CA356052808 |
4 | E>* | No |
ClinGen gnomAD |
|
|
CA2818881 rs750753010 |
5 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356052827 CA91403424 rs1016141075 |
6 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356052821 rs1390265300 |
6 | M>V | No |
ClinGen gnomAD |
|
|
rs1272255531 CA356052832 |
7 | H>R | No |
ClinGen gnomAD |
|
|
rs766753967 CA2818883 CA356052843 |
8 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2818884 rs751798471 |
11 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2818885 rs148117486 |
12 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356052863 rs1342629511 |
12 | M>T | No |
ClinGen TOPMed |
|
|
CA2818889 rs777574434 |
15 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356052888 rs1195112772 |
16 | G>S | No |
ClinGen gnomAD |
|
|
CA2818890 rs749035089 |
24 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA356052941 rs749035089 |
24 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 25 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564270909 CA91403438 |
26 | G>A | No |
ClinGen 1000Genomes |
|
|
CA91403437 rs867225186 |
26 | G>S | No |
ClinGen Ensembl |
|
|
rs564270909 CA356052955 |
26 | G>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 28 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2818896 rs762389046 |
37 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs773829474 CA2818898 |
38 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773829474 CA2818899 |
38 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356053036 rs549780497 |
39 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2818901 rs549780497 |
39 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1290744471 CA356053040 |
40 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2818902 rs759618777 |
40 | Q>H | No |
ClinGen ExAC |
|
|
CA356053063 rs1577355168 |
44 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 46 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2818905 rs756097767 |
46 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA356053443 COSM241590 rs1382004620 |
47 | P>S | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs760711223 CA2818922 |
48 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2818923 rs764155421 |
49 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2818925 rs757132275 |
52 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765023340 CA2818926 |
54 | H>N | No |
ClinGen ExAC |
|
|
CA2818927 rs750149186 |
55 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA91404333 rs779608979 |
56 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754590367 CA2818932 |
58 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754590367 CA2818931 |
58 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447985608 CA356053516 |
59 | Y>C | No |
ClinGen gnomAD |
|
|
rs1157508246 CA356053531 |
61 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA356053532 rs1157508246 |
61 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376871555 CA2818936 |
66 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1453291264 CA356053585 |
69 | P>S | No |
ClinGen gnomAD |
|
|
rs760939509 CA2818939 |
70 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA356053598 rs1295990769 |
71 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2818941 rs776628217 |
72 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356053603 rs1560105731 |
72 | A>V | No |
ClinGen Ensembl |
|
|
rs532591178 CA91404381 |
74 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356053615 rs1262043624 |
74 | S>P | No |
ClinGen gnomAD |
|
|
rs765115089 CA2818943 |
78 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356053649 rs1316300007 |
79 | N>S | No |
ClinGen TOPMed |
|
|
rs147432096 CA356053655 |
80 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147432096 CA356053654 |
80 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372066896 CA2818945 |
80 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758854321 CA2818988 |
81 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776318503 CA356053684 |
83 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776318503 CA2818990 |
83 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139626310 CA356053683 |
83 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755389575 CA91405082 |
84 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755389575 CA2818991 |
84 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356053695 rs1384764924 |
85 | A>V | No |
ClinGen gnomAD |
|
|
CA91405088 rs890566926 |
86 | E>* | No |
ClinGen gnomAD |
|
|
CA356053722 rs1363972747 COSM1618747 |
89 | T>M | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356053741 rs1374040690 |
92 | N>S | No |
ClinGen gnomAD |
|
|
rs1577359389 CA356053749 |
93 | V>G | No |
ClinGen Ensembl |
|
|
CA2818996 rs749432597 |
93 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA356053757 rs1278859289 |
94 | F>L | No |
ClinGen gnomAD |
|
|
rs548574112 CA2818998 |
99 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745787410 CA2818999 |
100 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1484027719 CA356053810 |
102 | S>T | No |
ClinGen TOPMed |
|
|
CA2819003 rs368951667 |
107 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356053847 rs368951667 |
107 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470771821 CA356053854 |
108 | W>* | No |
ClinGen gnomAD |
|
|
CA2819005 rs761430887 |
110 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs752071353 CA2819007 |
111 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767897689 CA2819009 |
112 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs767897689 CA2819010 |
112 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756410928 CA356053888 |
114 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs756410928 CA2819011 |
114 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2819013 rs749467680 |
115 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757415457 CA2819014 |
115 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779079312 CA2819015 |
115 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749467680 CA356053892 |
115 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356053900 rs1304738653 |
116 | E>A | No |
ClinGen TOPMed |
|
|
CA356053898 rs1400198599 |
116 | E>K | No |
ClinGen TOPMed |
|
|
CA2819016 rs372711589 |
117 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91405150 rs539664951 |
117 | E>K | No |
ClinGen 1000Genomes |
|
|
CA2819019 rs143851218 |
118 | R>C | No |
ClinGen ESP TOPMed |
|
|
CA2819020 COSM1495797 rs772096716 |
118 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772096716 CA2819021 |
118 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2819022 rs746874027 |
119 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs938835980 CA91405162 |
119 | K>N | No |
ClinGen TOPMed |
|
|
rs1480761379 CA356053935 |
120 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA91405423 rs866337607 |
120 | S>R | No |
ClinGen gnomAD |
|
|
rs1343265539 CA356053939 |
121 | W>R | No |
ClinGen gnomAD |
|
|
rs779989271 CA2819059 |
122 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1577360175 CA356053965 |
124 | L>S | No |
ClinGen Ensembl |
|
|
CA356053972 rs1362087322 |
125 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2819060 rs776243893 |
126 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91405431 rs367702206 |
126 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356053980 rs1413163114 |
127 | R>K | No |
ClinGen TOPMed |
|
|
rs781060795 CA2819062 |
131 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356054011 rs1304016250 |
131 | H>R | No |
ClinGen gnomAD |
|
|
CA91405443 rs978951966 |
134 | E>G | No |
ClinGen TOPMed |
|
|
CA2819064 rs769545519 |
134 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2819065 rs777468144 |
137 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1220532993 CA356054055 |
137 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2819067 rs539701566 |
139 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2819069 rs761275790 |
140 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777507314 CA356054084 |
142 | T>I | No |
ClinGen gnomAD |
|
|
rs777507314 CA91405453 |
142 | T>N | No |
ClinGen gnomAD |
|
| rs140532510 | 143 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140532510 CA91409977 |
143 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1159038325 CA356054089 |
143 | S>T | No |
ClinGen gnomAD |
|
|
rs1376901365 CA356054369 |
144 | D>E | No |
ClinGen gnomAD |
|
|
CA356054358 rs1478797168 |
144 | D>N | No |
ClinGen gnomAD |
|
|
rs759208926 CA2819175 |
144 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466387931 CA356054391 |
146 | S>T | No |
ClinGen gnomAD |
|
|
CA2819176 rs767159592 |
147 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2819178 rs150461713 |
147 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750879417 CA2819180 |
150 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376363942 CA91409987 |
154 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766158687 CA2819183 |
155 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2819185 rs781158643 |
157 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2819187 rs769753956 |
158 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356054569 rs1433644964 |
161 | D>A | No |
ClinGen gnomAD |
|
|
CA356054585 rs1254705194 |
162 | I>M | No |
ClinGen TOPMed |
|
|
CA91409997 rs370357202 |
163 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs550467503 CA2819189 |
164 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2819190 rs550467503 |
164 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567769591 CA356054627 |
166 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356054639 rs1577364028 |
167 | Y>S | No |
ClinGen Ensembl |
|
|
rs1361944284 CA356054655 |
168 | P>R | No |
ClinGen gnomAD |
|
|
rs763506976 CA2819196 |
171 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA356054804 rs1356631538 |
174 | Y>* | No |
ClinGen gnomAD |
|
|
CA356054793 rs1290865981 |
174 | Y>H | No |
ClinGen TOPMed |
|
|
rs143009181 CA2819231 |
177 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356054831 rs1230118612 |
177 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356054836 rs1276321604 |
177 | D>V | No |
ClinGen gnomAD |
|
|
rs1007294624 CA91410192 |
178 | D>N | No |
ClinGen gnomAD |
|
|
CA2819233 rs201371505 |
181 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776230915 CA2819234 |
182 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA2819236 rs769294111 |
183 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761375105 CA2819235 |
183 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA356054883 rs1477815888 |
184 | L>P | No |
ClinGen gnomAD |
|
|
rs370396181 CA356054890 |
185 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866350692 CA91410219 |
186 | P>A | No |
ClinGen Ensembl |
|
|
CA356054895 rs1422141265 |
186 | P>L | No |
ClinGen gnomAD |
|
|
CA91410222 rs866350692 |
186 | P>T | No |
ClinGen Ensembl |
|
|
CA2819238 rs753681184 |
187 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753681184 CA356054900 |
187 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956936364 CA91410244 |
190 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1219218343 CA356054917 |
190 | E>D | No |
ClinGen gnomAD |
|
|
CA2819244 rs764460704 |
191 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278993439 CA356054926 |
192 | G>E | No |
ClinGen gnomAD |
|
|
rs765339575 CA2819247 |
192 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1313659807 CA356054931 |
193 | R>K | No |
ClinGen gnomAD |
|
|
rs1313659807 CA356054932 |
193 | R>M | No |
ClinGen gnomAD |
|
|
rs755724325 CA2819273 |
197 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356055422 rs1444331817 |
199 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748798487 CA2819275 |
200 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770462711 CA2819276 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356055456 rs1377187388 |
201 | P>S | No |
ClinGen gnomAD |
|
|
CA2819278 rs747483015 |
205 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 207 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356055584 rs1470177825 |
208 | P>L | No |
ClinGen gnomAD |
|
|
CA2819280 rs777085450 |
210 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777085450 CA356055605 |
210 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762997491 CA2819284 |
212 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2819288 rs201983881 |
215 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2819287 rs201983881 |
215 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2819286 rs139934973 |
215 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141725012 CA2819289 |
219 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91411169 rs547633775 |
221 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2819291 rs547633775 |
221 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756724332 CA2819293 |
222 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201459890 CA2819292 |
222 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2819294 rs370579025 |
223 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA91411179 rs370579025 |
223 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA356055839 rs1196623643 |
224 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1577367180 CA356055879 |
227 | T>P | No |
ClinGen Ensembl |
|
|
rs1331753232 CA356055902 |
228 | S>F | No |
ClinGen gnomAD |
|
|
CA2819295 rs747539694 |
229 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs139509715 CA2819297 |
231 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868684244 CA91411204 |
232 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356055954 rs1470194215 |
235 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356055960 rs1254358063 |
236 | P>S | No |
ClinGen gnomAD |
|
|
CA2819303 rs770940629 |
239 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA356055977 rs1169844304 |
239 | P>T | No |
ClinGen gnomAD |
|
|
rs1463360262 CA356055987 |
241 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2819305 rs774452284 |
243 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91411231 rs774452284 |
243 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1253764258 CA356056018 |
245 | P>L | No |
ClinGen TOPMed |
|
|
rs1337749088 CA356056035 |
248 | G>C | No |
ClinGen gnomAD |
|
|
rs759582599 CA2819307 |
250 | A>V | No |
ClinGen ExAC |
|
|
CA356056056 rs1308552287 |
252 | E>Q | No |
ClinGen gnomAD |
|
|
CA2819311 rs763881667 |
253 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1268341752 CA356056081 |
255 | K>R | No |
ClinGen TOPMed |
|
|
CA356056091 rs1487331553 |
257 | D>N | No |
ClinGen gnomAD |
|
|
rs1262362367 CA356056100 |
258 | P>S | No |
ClinGen gnomAD |
|
|
rs1262362367 CA356056098 |
258 | P>T | No |
ClinGen gnomAD |
|
|
CA2819314 rs146213141 |
261 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2819317 rs539765774 |
263 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748657780 CA2819318 |
263 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539765774 CA2819316 |
263 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1441573560 CA356056149 |
266 | P>H | No |
ClinGen gnomAD |
|
|
rs1418589091 CA356056146 |
266 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356056163 rs1384410459 |
269 | R>G | No |
ClinGen gnomAD |
|
|
CA356056175 rs1577367465 |
270 | V>G | No |
ClinGen Ensembl |
|
|
rs771227458 CA2819322 |
271 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA356056182 rs1366943959 |
272 | A>T | No |
ClinGen TOPMed |
|
|
rs759670540 CA2819327 |
273 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759670540 CA2819325 |
273 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759670540 CA2819326 |
273 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2819329 rs760547264 |
274 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356056192 rs760547264 |
274 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2819328 rs760547264 |
274 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282774369 CA356056194 |
275 | R>* | No |
ClinGen gnomAD |
|
| rs776466609 | 275 | R>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2819330 rs776446250 |
275 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA91411287 rs200187838 |
276 | R>K | No |
ClinGen 1000Genomes |
|
|
rs1215993772 CA356056209 |
277 | M>I | No |
ClinGen gnomAD |
|
|
CA356056219 TCGA novel rs142919460 |
278 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
rs764985576 CA2819332 |
279 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356056227 rs1189377182 |
280 | P>T | No |
ClinGen gnomAD |
|
|
CA356056239 rs1487267424 |
282 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 282 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356056248 rs1266899762 |
283 | S>N | No |
ClinGen TOPMed |
|
|
rs1358438401 CA356056258 |
285 | M>V | No |
ClinGen gnomAD |
|
|
CA2819334 rs758046451 |
286 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs778115531 CA2819341 |
289 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356056284 rs1292259717 |
289 | P>S | No |
ClinGen gnomAD |
|
|
CA2819346 rs772152116 |
292 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746025620 CA2819345 |
292 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs548742750 CA91411364 |
293 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356056309 rs1577367638 |
294 | P>A | No |
ClinGen Ensembl |
|
|
CA91411368 rs917606150 |
294 | P>R | No |
ClinGen TOPMed |
|
|
CA2819349 rs768677594 |
295 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA356056322 rs1166513680 |
296 | C>Y | No |
ClinGen TOPMed |
|
|
rs903802049 CA91411381 |
301 | A>V | No |
ClinGen TOPMed |
|
|
CA2819353 rs773000955 |
302 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs146469368 CA356056365 |
303 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146469368 CA91411386 |
303 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555463039 CA356056380 |
305 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1180495411 CA356056389 |
306 | E>D | No |
ClinGen gnomAD |
|
|
rs867169595 CA91411408 |
310 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs147044167 CA356056467 |
314 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2819362 rs147044167 |
314 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2819363 rs746109983 |
315 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA356056479 rs1312017070 |
315 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356056477 rs1312017070 |
315 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1235042756 CA356056497 |
316 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1405732337 CA356056519 |
318 | S>Y | No |
ClinGen TOPMed |
|
|
rs754455567 CA2819366 |
320 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356056553 rs1234275556 |
321 | A>D | No |
ClinGen gnomAD |
|
|
CA356056550 rs1370186357 |
321 | A>T | No |
ClinGen TOPMed |
|
|
rs1482037731 CA356056576 |
323 | M>V | No |
ClinGen gnomAD |
|
|
CA2819367 rs747160915 |
325 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747966569 CA2819370 |
329 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356056663 rs1422063754 |
330 | N>D | No |
ClinGen gnomAD |
|
|
rs1422063754 CA356056662 |
330 | N>H | No |
ClinGen gnomAD |
|
|
rs1171967366 CA549704126 |
331 | C>* | No |
ClinGen TOPMed |
|
|
CA356056683 rs1553807129 |
331 | C>Y | No |
ClinGen Ensembl |
|
|
CA91411449 rs935943262 |
333 | K>N | No |
ClinGen Ensembl |
|
|
CA356056746 rs1409775615 |
335 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1408832990 CA356056777 |
338 | H>Y | No |
ClinGen Ensembl |
|
|
CA2819374 rs770759982 |
341 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA91411458 rs1056153871 |
341 | P>S | No |
ClinGen TOPMed |
|
|
CA91411454 rs1056153871 |
341 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs374788058 CA2819376 |
342 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356056821 rs1416584140 |
342 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1560111184 CA356056825 |
343 | G>R | No |
ClinGen Ensembl |
|
|
CA2819377 rs766872713 |
344 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2819378 rs754384594 |
345 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310135494 CA356056874 |
347 | S>Y | No |
ClinGen gnomAD |
|
|
CA91411492 rs762177276 |
350 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762177276 CA2819379 |
350 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91411489 rs762177276 |
350 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765618764 CA2819380 |
353 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356056954 rs1016515984 |
354 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA356056949 rs1190818977 |
354 | A>S | No |
ClinGen gnomAD |
|
|
CA91411512 rs1016515984 |
354 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2819381 rs750827041 |
355 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1422076018 CA356057013 |
359 | F>L | No |
ClinGen gnomAD |
|
|
CA2819382 rs758738685 |
361 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA356057054 rs1437832400 |
362 | I>L | No |
ClinGen Ensembl |
|
|
CA356057061 rs1173211659 |
362 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453717053 CA356057111 |
366 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA356057105 rs1436683002 |
366 | D>N | No |
ClinGen gnomAD |
|
|
CA356057125 rs1325791133 |
367 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781072584 CA2819386 |
368 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780642536 CA2819385 |
368 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs544136784 CA91411540 |
369 | R>K | No |
ClinGen 1000Genomes TOPMed |
|
| rs1560111269 | 369 | R>K | Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91411537 rs544136784 |
369 | R>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA356057166 rs1218387660 |
370 | E>D | No |
ClinGen gnomAD |
|
|
rs1365187419 CA356057162 |
370 | E>G | No |
ClinGen gnomAD |
|
|
rs769894292 CA2819388 |
371 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1213837289 CA356057192 |
373 | M>I | No |
ClinGen gnomAD |
|
|
rs1349531722 CA356057190 |
373 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356057213 rs1244231150 |
377 | F>L | No |
ClinGen gnomAD |
|
|
CA2819393 rs774058201 |
378 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759199606 | 381 | V>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759199606 | 381 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2819401 rs763371314 |
385 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2819402 rs373415147 |
386 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356057263 rs1237495576 |
386 | P>S | No |
ClinGen gnomAD |
|
|
rs752771498 CA2819406 |
389 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs568178509 CA91411575 |
390 | L>P | No |
ClinGen 1000Genomes |
|
|
CA2819407 rs756254370 |
391 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356057300 rs1254015154 |
393 | P>S | No |
ClinGen gnomAD |
|
|
CA356057298 rs1254015154 |
393 | P>T | No |
ClinGen gnomAD |
|
|
CA2819408 rs777927746 |
395 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2819414 rs775185540 |
398 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385738685 CA356057351 |
402 | L>V | No |
ClinGen TOPMed |
|
|
rs1327801615 CA356057360 |
403 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2819417 rs773708426 |
404 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1336098037 CA356057367 |
405 | P>S | No |
ClinGen gnomAD |
|
|
rs763389806 CA2819418 |
406 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 407 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2819419 rs766786069 |
408 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356057395 rs1337448169 |
409 | Q>* | No |
ClinGen gnomAD |
|
|
CA356057421 rs1474870433 |
413 | L>V | No |
ClinGen gnomAD |
|
|
CA356057426 rs1419886399 |
414 | Q>* | No |
ClinGen gnomAD |
|
|
CA2819445 rs754009644 |
417 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1394108140 CA356057540 |
417 | P>T | No |
ClinGen gnomAD |
|
|
rs757336022 CA2819447 |
418 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452312720 CA356057559 |
419 | D>Y | No |
ClinGen gnomAD |
|
|
CA356057610 rs1386247586 |
421 | Q>H | No |
ClinGen gnomAD |
|
|
rs1577370212 CA356057604 |
421 | Q>R | No |
ClinGen Ensembl |
|
|
rs1384285485 CA356057646 |
424 | R>G | No |
ClinGen gnomAD |
|
|
CA91412370 rs972728940 |
425 | S>R | No |
ClinGen gnomAD |
|
|
rs758128786 CA2819450 |
427 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746684325 CA2819452 |
428 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1238358144 CA356057724 |
429 | E>A | No |
ClinGen gnomAD |
|
|
rs1261254681 CA356057744 |
430 | K>N | No |
ClinGen gnomAD |
|
|
CA356057753 rs1486769271 |
431 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200226629 CA2819457 |
432 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2819456 rs373894173 |
432 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1418028054 CA356057775 |
433 | Q>* | No |
ClinGen gnomAD |
|
|
rs1159129109 CA356057789 |
434 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1455803425 CA356057812 |
435 | S>L | No |
ClinGen gnomAD |
|
|
rs867712178 CA91412406 |
436 | Q>R | No |
ClinGen Ensembl |
|
|
CA2819459 rs772346840 |
438 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2819461 rs761092425 |
440 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA356057865 rs1441969157 |
440 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA91412423 rs972964662 |
442 | D>G | No |
ClinGen gnomAD |
|
|
CA356057885 rs1318717088 |
442 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356057889 rs1318717088 |
442 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs907019445 CA91412428 |
443 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs137947663 CA356057921 |
444 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137947663 CA2819465 |
444 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177351370 CA356057949 |
446 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1252035456 CA356057962 |
447 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1291034009 CA356057984 |
448 | Y>C | No |
ClinGen TOPMed |
|
|
rs1291034009 CA356057986 |
448 | Y>F | No |
ClinGen TOPMed |
|
|
CA356057977 rs1473887092 |
448 | Y>H | No |
ClinGen gnomAD |
|
|
CA356057989 rs1163364939 |
449 | E>K | No |
ClinGen gnomAD |
|
|
CA356058013 rs1462307303 |
450 | K>M | No |
ClinGen gnomAD |
|
|
rs1577370840 CA356058092 |
451 | V>G | No |
ClinGen Ensembl |
|
|
rs1187409107 CA356058107 |
452 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 452 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356058100 rs1475302669 |
452 | P>S | No |
ClinGen gnomAD |
|
|
rs780771863 CA2819494 |
453 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA356058134 rs1398860858 |
455 | N>S | No |
ClinGen TOPMed |
|
|
rs748346628 CA356058187 |
458 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2819499 COSM3696612 rs770092682 |
459 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356058209 rs1322292807 |
460 | N>K | No |
ClinGen gnomAD |
|
|
rs1431217833 CA356058205 |
460 | N>S | No |
ClinGen gnomAD |
|
|
rs1349457803 CA356058255 |
464 | S>P | No |
ClinGen gnomAD |
|
|
CA356058325 rs536327218 |
467 | V>L | No |
ClinGen TOPMed |
|
|
CA91412629 rs536327218 |
467 | V>M | No |
ClinGen TOPMed |
|
|
rs1241525816 CA356058352 |
468 | E>* | No |
ClinGen TOPMed |
|
|
CA2819505 rs767332744 |
469 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2819540 rs201375256 |
472 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779088131 CA2819539 |
472 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356058567 rs1463424103 |
473 | A>S | No |
ClinGen gnomAD |
|
|
CA356058619 rs768514069 |
475 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2819546 rs776527305 |
476 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776527305 CA2819547 |
476 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2819549 rs148761331 |
477 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762558421 CA356058654 |
477 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs762558421 CA2819550 |
477 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356058670 rs1313775166 |
478 | G>V | No |
ClinGen TOPMed |
|
|
rs765750777 CA2819551 |
479 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753270805 CA2819552 |
480 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA356058694 rs565191421 |
480 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1342666030 CA356058713 |
481 | Q>R | No |
ClinGen gnomAD |
|
|
rs1269839699 CA356058740 |
482 | D>G | No |
ClinGen gnomAD |
|
|
rs1397043022 CA356058729 |
482 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 483 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444193633 CA356058793 |
485 | Y>H | No |
ClinGen gnomAD |
|
|
rs921517997 CA356058840 |
487 | I>F | No |
ClinGen Ensembl |
|
|
CA91412907 rs921517997 |
487 | I>V | No |
ClinGen Ensembl |
|
|
CA2819559 rs758515978 |
488 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766567070 CA2819595 |
499 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2819596 rs751799854 |
499 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1406385909 CA356059141 |
500 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356059175 rs1577372620 |
504 | T>I | No |
ClinGen Ensembl |
|
|
rs144577122 CA2819600 |
505 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144577122 CA2819601 |
505 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2819603 rs757074228 |
511 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA356059300 COSM212822 rs1295522318 |
515 | E>Q | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA356059500 rs1413608587 |
521 | Y>C | No |
ClinGen gnomAD |
|
|
rs1042949866 CA91414062 |
521 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1189486232 CA356059519 |
523 | E>K | No |
ClinGen gnomAD |
|
|
CA356059546 rs1560114751 |
524 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 524 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172008192 CA356059561 |
525 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2819635 rs142735744 |
525 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2819636 rs772481292 |
526 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA356059573 rs1425874075 |
526 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs141684274 CA356059589 |
528 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2819639 rs764179076 |
529 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764179076 CA356059590 |
529 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs767878434 CA2819640 |
530 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356059599 rs767878434 |
530 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2819641 rs761766374 |
531 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1322150206 CA356059604 |
531 | V>L | No |
ClinGen gnomAD |
|
|
CA356059618 rs1435214571 |
533 | S>I | No |
ClinGen gnomAD |
|
|
CA356059616 rs1435214571 |
533 | S>N | No |
ClinGen gnomAD |
|
|
CA356059638 rs1577373816 |
535 | V>M | No |
ClinGen Ensembl |
|
|
rs547977985 CA2819642 |
536 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2819645 rs779748713 |
541 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356059778 rs1270259241 |
544 | P>H | No |
ClinGen gnomAD |
|
|
rs1467311149 CA356059815 |
547 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 549 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356059899 rs1577373925 |
553 | H>P | No |
ClinGen Ensembl |
|
|
CA2819653 rs772503534 |
553 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1333168853 CA356059893 |
553 | H>Y | No |
ClinGen TOPMed |
|
|
CA91414154 rs567040746 |
554 | P>A | No |
ClinGen gnomAD |
|
|
CA356059907 rs567040746 |
554 | P>S | No |
ClinGen gnomAD |
|
|
rs973708790 CA91414158 |
555 | Y>H | No |
ClinGen TOPMed |
|
|
rs201197278 CA356059931 |
556 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356059966 rs1287020873 |
558 | T>S | No |
ClinGen gnomAD |
|
|
rs372055509 CA91414165 |
559 | G>E | No |
ClinGen Ensembl |
|
|
rs1577373982 CA356059987 |
560 | P>L | No |
ClinGen Ensembl |
|
|
rs1386020465 CA356059981 |
560 | P>S | No |
ClinGen TOPMed |
|
|
CA91414169 rs11542558 |
561 | R>G | No |
ClinGen Ensembl |
|
|
rs1577373999 CA356060006 |
562 | R>G | No |
ClinGen Ensembl |
1 associated diseases with P78314
[MIM: 118400]: Cherubism (CRBM)
An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. {ECO:0000269|PubMed:11381256, ECO:0000269|PubMed:12900899, ECO:0000269|PubMed:14577811}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. {ECO:0000269|PubMed:11381256, ECO:0000269|PubMed:12900899, ECO:0000269|PubMed:14577811}. Note=The disease is caused by variants affecting the gene represented in this entry.
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06649 | Sh3bp2 | SH3 domain-binding protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAEEMHWPV | PMKAIGAQNL | LTMPGGVAKA | GYLHKKGGTQ | LQLLKWPLRF | VIIHKRCVYY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FKSSTSASPQ | GAFSLSGYNR | VMRAAEETTS | NNVFPFKIIH | ISKKHRTWFF | SASSEEERKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WMALLRREIG | HFHEKKDLPL | DTSDSSSDTD | SFYGAVERPV | DISLSPYPTD | NEDYEHDDED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DSYLEPDSPE | PGRLEDALMH | PPAYPPPPVP | TPRKPAFSDM | PRAHSFTSKG | PGPLLPPPPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KHGLPDVGLA | AEDSKRDPLC | PRRAEPCPRV | PATPRRMSDP | PLSTMPTAPG | LRKPPCFRES |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ASPSPEPWTP | GHGACSTSSA | AIMATATSRN | CDKLKSFHLS | PRGPPTSEPP | PVPANKPKFL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KIAEEDPPRE | AAMPGLFVPP | VAPRPPALKL | PVPEAMARPA | VLPRPEKPQL | PHLQRSPPDG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QSFRSFSFEK | PRQPSQADTG | GDDSDEDYEK | VPLPNSVFVN | TTESCEVERL | FKATSPRGEP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QDGLYCIRNS | STKSGKVLVV | WDETSNKVRN | YRIFEKDSKF | YLEGEVLFVS | VGSMVEHYHT |
| 550 | 560 | ||||
| HVLPSHQSLL | LRHPYGYTGP | R |