Q8NEM0
PR
Gene name |
MCPH1 |
Protein name |
Microcephalin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79648 |
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
10 structures for Q8NEM0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2WT8 | X-ray | 160 A | A/B/C/D | 1-95 | PDB |
| 3KTF | X-ray | 160 A | A/B/C | 1-101 | PDB |
| 3PA6 | X-ray | 150 A | A/B/C | 1-105 | PDB |
| 3SHT | X-ray | 195 A | A/B/C | 639-835 | PDB |
| 3SHV | X-ray | 210 A | A/B | 639-835 | PDB |
| 3SZM | X-ray | 263 A | A/B/C/D/E/F/G/H | 640-835 | PDB |
| 3T1N | X-ray | 260 A | A/B | 640-835 | PDB |
| 3U3Z | X-ray | 150 A | A | 640-835 | PDB |
| 7C5D | X-ray | 215 A | C/D | 322-342 | PDB |
| AF-Q8NEM0-F1 | Predicted | AlphaFoldDB |
1113 variants for Q8NEM0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000003618 rs121434305 CA340093 |
25 | S>* | Microcephaly 1, primary, autosomal recessive Variant assessed as Somatic; 4.638e-05 impact. Microcephaly 1, primary, autosomal recessive (mcph1) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ESP ExAC gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
CA342394 VAR_046745 rs199422124 RCV000020902 |
27 | T>R | Microcephaly 1, primary, autosomal recessive MCPH1; mild phenotype [ClinVar, UniProt] | Yes |
gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV000371509 RCV000146272 CA271676 rs587783733 |
43 | F>S | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
rs1488084787 CA370215977 RCV000023615 |
49 | H>Q | Microcephaly 1, primary, autosomal recessive Microcephaly 1, primary, autosomal recessive (mcph1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4610087 rs566242931 RCV001334205 |
50 | V>G | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001164875 RCV001252700 rs779924077 CA4610086 |
50 | V>I | Microcephaly 1, primary, autosomal recessive Variant assessed as Somatic; 0.0 impact. Microcephaly [ClinVar, NCI-TCGA] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
CA4610088 COSM325784 RCV001334206 rs538316396 |
51 | I>V | lung Microcephaly 1, primary, autosomal recessive [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000660389 rs759874234 CA4610093 |
56 | Y>C | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV000904963 RCV000177335 rs61749465 RCV000316152 CA202426 |
61 | D>G | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs387906961 RCV002287342 RCV000023616 CA259873 |
72 | S>L | Microcephaly 1, primary, autosomal recessive Variant assessed as Somatic; 0.0 impact. Microcephaly 1, primary, autosomal recessive (mcph1) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ExAC gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
RCV000146324 rs587783741 CA271711 |
93 | A>E | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000023617 rs755862917 CA4610162 RCV002513198 |
101 | S>* | Microcephaly 1, primary, autosomal recessive Microcephaly 1, primary, autosomal recessive (mcph1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000627415 rs759663956 RCV001507256 |
108 | R>missing | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4610199 rs371941778 RCV001164877 |
114 | K>E | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ESP ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV000454240 rs199422125 RCV000003619 |
143 | T>missing | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146326 RCV001849984 rs139607465 CA271715 |
145 | L>V | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000179527 rs201403389 RCV000290144 CA246801 |
149 | V>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001159964 rs752860887 CA4610263 |
168 | I>V | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA4610265 rs201120541 RCV001251828 |
169 | N>Y | Intellectual disability [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV003117789 rs776125109 RCV001159965 CA4610282 |
187 | R>S | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV002286697 rs753597039 RCV000023614 |
189 | N>missing | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1803595754 RCV001269296 |
196 | Q>missing | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4610321 rs369302385 RCV000391561 |
202 | H>R | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA271717 RCV000146328 rs587783742 |
205 | P>L | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
rs2922828 RCV000712278 RCV000296022 RCV000146329 CA172539 VAR_046747 |
212 | A>T | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
rs763114241 CA171401525 RCV001859045 RCV001161370 |
214 | L>W | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs75741316 RCV000953576 CA172541 RCV000146330 RCV000350745 |
216 | I>T | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4610332 RCV001334208 rs757012933 RCV000906276 |
218 | R>C | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000766670 rs41313952 RCV000193214 RCV001161371 CA206545 RCV002517951 |
222 | C>R | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000403628 rs886063057 CA10631485 |
236 | D>H | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA4610378 RCV000386345 rs375695403 RCV000766026 |
259 | K>Q | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000194036 rs199700538 RCV001251832 RCV000992297 CA207930 RCV000766027 |
261 | D>E | Microcephaly 1, primary, autosomal recessive Intellectual disability Microcephaly 1, primary, autosomal recessive (mcph1) [ClinVar, Ensembl] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000992298 CA172544 rs34121009 RCV000146332 VAR_046748 RCV000311124 |
264 | I>V | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000356618 rs35590577 RCV000712279 VAR_046749 RCV000146333 CA172546 |
288 | P>H | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV002058744 RCV000402765 CA4610396 rs200814676 |
290 | K>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000146335 rs587783743 CA271721 |
300 | I>V | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000607299 VAR_046750 RCV000146336 rs2083914 CA172548 RCV001668293 |
304 | R>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_046751 CA172550 RCV000020903 rs930557 RCV000146337 RCV001594818 |
314 | D>H | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA247807 RCV000180368 RCV002515292 rs745348836 |
325 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs115088000 CA4610426 RCV001162916 RCV000385537 RCV000712280 |
330 | Y>C | Microcephaly 1, primary, autosomal recessive Microcephaly 1, primary, autosomal recessive (mcph1) [ClinVar, Ensembl] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA4610443 RCV001164994 rs145820898 |
351 | S>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000146268 rs148526209 CA271668 RCV000907506 |
354 | V>A | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA4610454 rs779574623 RCV001164995 |
357 | K>Q | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000729674 RCV002535126 CA4610466 rs373762532 |
373 | R>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA149260 RCV001664382 RCV000082198 RCV000603959 rs2515569 VAR_046752 |
392 | D>G | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV001852561 CA207533 RCV000193801 rs201128010 RCV000766028 |
396 | H>N | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA171404570 RCV001164996 RCV002527266 RCV000503451 rs570511077 CA4610484 |
396 | H>Q | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002515966 CA271672 rs539491399 RCV000146270 |
397 | V>M | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000194732 RCV001164997 RCV000919165 rs202241113 CA209101 |
398 | A>V | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001164998 rs556803400 RCV000594949 RCV002062047 CA4610493 |
405 | L>P | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001160084 RCV002559533 CA4610498 RCV001751293 rs200518541 |
409 | E>V | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA271674 rs201261159 RCV000146271 RCV000279928 |
425 | Y>N | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA4610510 CA370221315 COSM397363 rs754200749 RCV001329351 |
427 | E>D | lung Microcephaly 1, primary, autosomal recessive [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ExAC gnomAD ClinVar dbSNP |
|
CA4610513 rs376658910 RCV000358527 RCV001861328 |
431 | P>S | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs757893077 RCV002032477 RCV001160086 COSM1187488 CA4610515 |
433 | S>Y | lung Microcephaly 1, primary, autosomal recessive [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs77959215 RCV000766029 RCV000594510 CA4610527 |
450 | K>T | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs202004426 RCV000498490 RCV001172454 RCV000146273 CA271678 |
451 | E>K | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000273175 CA247809 RCV000180369 rs201039834 |
457 | E>K | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001160087 RCV002032478 rs531526435 CA4610538 |
464 | V>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000930721 rs548329168 RCV000328196 RCV000504368 CA4610542 |
468 | T>N | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs146586991 RCV000971322 RCV000082201 RCV000146274 CA149266 |
499 | V>M | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs572671721 CA4610588 RCV000592127 RCV000258423 |
521 | E>* | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002557379 CA4610597 rs200823026 RCV001161497 RCV001751294 |
530 | E>V | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587783734 CA271680 RCV000146275 RCV000920682 |
539 | D>G | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV000712273 CA4610606 RCV000763602 rs748011724 |
542 | L>* | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763881518 RCV001251829 CA4610608 |
543 | T>S | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779570029 RCV002533083 RCV000728149 CA4610614 |
554 | E>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000146276 rs201405704 CA271682 RCV000523239 |
560 | S>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002536422 RCV000729009 rs773342658 |
561 | T>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791199 rs1585816128 |
575 | E>D | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000375921 RCV002524574 rs561690042 CA4610630 |
577 | E>K | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
VAR_046753 RCV000146280 RCV000514348 RCV001163017 rs17076894 CA172493 |
580 | S>G | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV000146281 rs35402812 RCV002514818 CA271686 |
581 | E>G | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003114517 rs750376557 RCV000281431 CA4610641 |
593 | E>D | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA271688 VAR_046754 rs34418490 RCV000146283 |
602 | L>F | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000146285 rs587783735 |
623 | S>* | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003151048 rs189380942 CA4610689 RCV002058745 RCV000342184 |
626 | G>S | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000500097 rs1554496609 RCV001193412 |
642 | R>missing | Autosomal recessive primary microcephaly Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146288 rs138218829 CA271692 RCV000915010 |
651 | V>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001165105 rs1808650754 |
652 | M>I | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000404524 rs752602108 CA4610776 |
663 | V>I | Microcephaly 1, primary, autosomal recessive Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
RCV001197893 rs1809112398 |
668 | D>missing | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA172500 RCV000301716 RCV001539042 RCV000146289 VAR_046755 rs12674488 |
682 | T>N | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1100956 RCV000174166 CA239666 RCV001165107 rs376996626 |
693 | R>C | Microcephaly 1, primary, autosomal recessive Variant assessed as Somatic; 0.0 impact. endometrium Microcephaly 1, primary, autosomal recessive (mcph1) [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs370011131 CA4610801 RCV001165108 |
693 | R>H | Microcephaly 1, primary, autosomal recessive Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs751512309 CA4610811 RCV000498795 RCV000766030 |
702 | A>V | Microcephaly 1, primary, autosomal recessive Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
RCV002514958 RCV000766031 RCV000153482 CA234259 rs370275760 |
703 | R>H | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000351713 rs201599657 RCV001844112 CA4610837 RCV000481434 RCV001251830 |
715 | W>* | Autosomal recessive primary microcephaly Microcephaly 1, primary, autosomal recessive Intellectual disability [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA239944 RCV001270063 RCV000270996 rs199861426 COSM1196714 RCV000656854 |
727 | P>L | lung Microcephaly 1, primary, autosomal recessive Intellectual disability [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158397 CA4610852 rs202015253 |
733 | H>Q | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001857129 CA4610860 RCV002524227 RCV000502495 rs759545352 RCV003129874 |
737 | A>G | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs373658774 CA4611478 RCV002558400 RCV001158612 |
752 | R>G | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4611480 RCV002514819 RCV002568719 rs587783737 RCV002485988 RCV000146302 CA271699 RCV001251831 |
753 | G>R | Intellectual disability Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
VAR_046756 rs1057090 RCV000146305 RCV000020900 RCV001539339 CA172521 |
761 | A>V | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV000146306 rs587783738 CA271701 |
763 | F>S | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200820759 RCV000349994 RCV002523695 CA4611490 RCV002523694 |
765 | S>W | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001245798 RCV003155379 rs753535530 CA4611510 |
788 | Q>* | Autosomal recessive primary microcephaly [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs369127299 RCV000764776 CA4611522 RCV000712276 |
799 | P>S | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000488119 RCV000406344 rs45540031 CA201079 RCV000174601 |
801 | S>G | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4611529 rs202101904 RCV002559546 RCV001161831 |
806 | A>V | Microcephaly 1, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA271703 rs35013679 RCV000146314 |
810 | Y>C | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001161832 CA4611535 rs755280764 |
812 | S>C | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001711083 rs1057091 CA172535 RCV000020901 RCV000146321 VAR_046757 |
828 | P>S | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
rs34009706 RCV000146323 RCV002514820 CA271709 |
833 | L>F | Microcephaly 1, primary, autosomal recessive [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759488210 CA4609971 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4609972 rs765495919 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765495919 CA4609973 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763887070 CA4609975 |
4 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763887070 CA171349700 |
4 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA4609976 rs751243583 |
5 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs541121482 CA171354826 |
8 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370215281 rs1336240811 |
8 | D>E | No |
gnomAD ClinGen |
|
|
rs541121482 CA4610015 |
8 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4609979 rs749997244 |
8 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4610016 rs754516485 |
9 | V>I | No |
ExAC ClinGen |
|
|
rs754516485 CA370215283 |
9 | V>L | No |
ClinGen ExAC |
|
|
rs752291343 CA4610019 |
10 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA171354881 rs767448816 |
11 | A>D | No |
ClinGen Ensembl |
|
|
CA370215294 rs1247255481 |
11 | A>S | No |
ClinGen gnomAD |
|
|
rs758006746 CA4610020 |
12 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1053026305 CA171354890 |
15 | V>A | No |
Ensembl ClinGen |
|
|
CA4610021 rs781411071 |
15 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs1208397118 CA370215325 |
16 | W>* | No |
ClinGen gnomAD |
|
|
rs756634064 CA4610023 |
16 | W>C | No |
ExAC gnomAD ClinGen |
|
|
rs1208397118 CA370215327 |
16 | W>L | No |
gnomAD ClinGen |
|
|
CA370215335 rs1458564796 |
17 | S>L | No |
ClinGen gnomAD |
|
|
CA171354919 rs896077970 |
18 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA370215340 rs896077970 |
18 | S>F | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 19 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4610024 rs752855605 |
19 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1370388990 CA370215352 |
20 | G>A | No |
gnomAD ClinGen |
|
|
CA4610025 rs202109303 |
20 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs537115782 CA4610026 |
21 | T>A | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1585553407 CA370215356 |
21 | T>R | No |
Ensembl ClinGen |
|
|
rs905656289 CA171354942 |
22 | E>G | No |
ClinGen Ensembl |
|
|
rs774692658 CA4610027 |
22 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4610028 rs748332432 |
23 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs779578380 CA171354958 |
23 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 24 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370215373 rs1459502348 |
24 | Y>F | No |
ClinGen TOPMed |
|
|
CA370215395 rs199422124 |
27 | T>I | No |
ClinGen gnomAD |
|
|
rs766476013 CA4610031 |
29 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243093531 CA370215414 |
30 | T>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1338291734 CA370215411 |
30 | T>P | No |
gnomAD ClinGen |
|
|
CA370215417 rs1461489255 |
31 | Q>E | No |
ClinGen gnomAD |
|
|
rs764643772 CA4610034 |
31 | Q>L | No |
ExAC gnomAD ClinGen |
|
|
CA4610036 rs758014452 |
33 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA4610037 rs371161847 |
34 | D>G | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1478333741 CA370215433 |
34 | D>N | No |
ClinGen TOPMed |
|
|
CA4610038 rs371161847 |
34 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 35 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370215440 rs1201070996 |
35 | M>V | No |
ClinGen gnomAD |
|
|
CA4610040 rs780603646 |
36 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs756437905 CA4610039 |
36 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA370215454 rs1245865846 |
37 | A>T | No |
TOPMed ClinGen |
|
|
rs1424158623 CA370215464 |
38 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
rs761468644 CA4610074 |
39 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA370215921 rs1345028835 |
40 | S>* | No |
ClinGen gnomAD |
|
|
CA4610075 rs767108053 |
41 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4610076 rs546236152 |
41 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281917780 CA370215930 |
42 | T>A | No |
TOPMed ClinGen |
|
|
CA370215945 rs1309994742 |
44 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
rs765710212 CA4610077 |
44 | N>Y | No |
ExAC gnomAD ClinGen |
|
|
rs753231944 CA4610079 |
45 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753231944 CA4610078 |
45 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374363568 CA171364576 |
45 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs753231944 CA4610080 |
45 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370215953 rs1216140126 |
46 | Q>K | No |
ClinGen TOPMed |
|
|
rs781536395 CA4610083 |
47 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745702205 CA4610084 |
48 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610085 RCV000413193 rs372088330 |
49 | H>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA658657746 rs1554476471 RCV000521627 |
50 | V>GV | No |
Ensembl ClinGen ClinVar dbSNP |
|
|
rs1177677291 CA370215985 |
51 | I>T | No |
ClinGen gnomAD |
|
|
CA370215990 rs1424787978 |
52 | F>V | No |
ClinGen gnomAD |
|
|
CA4610090 rs747616569 |
53 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1461316654 CA370216004 |
54 | D>H | No |
ClinGen gnomAD |
|
|
CA370216018 rs1444620464 |
56 | Y>H | No |
ClinGen gnomAD |
|
|
CA4610096 rs367830616 CA4610095 |
57 | Q>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs764660780 CA4610097 |
58 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs878856070 CA171364717 |
58 | S>R | No |
Ensembl ClinGen |
|
|
rs1333885096 CA370216041 |
59 | T>I | No |
ClinGen gnomAD |
|
|
CA370216048 rs1240826704 |
60 | W>C | No |
ClinGen gnomAD |
|
|
rs751733149 CA4610098 |
60 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456097837 CA370216056 |
61 | D>E | No |
gnomAD ClinGen |
|
|
rs375351799 CA4610100 |
64 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610102 rs752430365 |
65 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 66 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748988441 CA4610103 |
66 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4610104 rs199506455 |
67 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370216091 rs199506455 |
67 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747704032 CA4610106 |
68 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs772803872 CA4610108 |
70 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610107 rs771555365 |
70 | L>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1301304396 CA370216115 |
71 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1354638021 CA370216121 |
72 | S>A | No |
ClinGen gnomAD |
|
|
rs376364603 CA4610111 |
73 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs369920508 CA171364863 |
74 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA370216132 rs1278624882 |
74 | L>P | No |
gnomAD ClinGen |
|
|
rs374307254 CA171364871 |
75 | W>* | No |
ClinGen ESP TOPMed |
|
|
CA370216137 rs374307254 |
75 | W>S | No |
ClinGen ESP TOPMed |
|
|
rs972425106 CA171364891 |
76 | V>M | No |
TOPMed ClinGen |
|
|
rs767640718 CA4610114 |
78 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA370216946 rs1563197714 |
79 | C>F | No |
ClinGen Ensembl |
|
|
CA370216943 rs1349038447 |
79 | C>G | No |
ClinGen gnomAD |
|
|
CA171394609 rs370624266 |
82 | A>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA370216978 rs1453772690 |
84 | A>V | No |
gnomAD ClinGen |
|
|
rs1480812764 CA370216982 |
85 | H>R | No |
gnomAD ClinGen |
|
|
CA171394611 rs998754348 |
85 | H>Y | No |
ClinGen gnomAD |
|
|
CA4610145 rs773353540 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769516261 CA4610146 |
87 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610148 rs769516261 |
87 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610147 rs769516261 |
87 | D>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1376208969 CA370217000 |
88 | E>A | No |
ClinGen gnomAD |
|
|
rs772674011 CA4610149 |
88 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773570261 CA4610150 |
89 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1415885175 CA370217015 |
90 | L>F | No |
ClinGen gnomAD |
|
|
CA4610151 rs760865588 |
91 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs1325123634 CA370217019 |
91 | F>Y | No |
ClinGen gnomAD |
|
|
CA4610152 rs374287463 |
92 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400454017 CA370217025 |
92 | P>S | No |
ClinGen gnomAD |
|
|
CA4610153 rs776622094 |
93 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587783741 CA370217030 |
93 | A>V | No |
ClinGen TOPMed |
|
|
CA4610155 rs765391012 |
95 | N>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4610157 rs762637006 |
97 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA370217069 rs751450037 |
99 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs727504012 CA4610160 |
99 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610159 rs751450037 |
99 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305499761 CA370217081 COSM1552921 |
100 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4610161 rs749905038 |
101 | S>P | No |
ExAC gnomAD ClinGen |
|
|
rs2290145 CA4610164 |
102 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2290145 CA4610163 |
102 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610165 rs778408522 |
102 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2290145 RCV000337084 CA271713 RCV000826945 |
102 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs1370037489 CA370217091 |
103 | L>V | No |
ClinGen gnomAD |
|
|
CA4610166 rs370719440 |
104 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1563198055 CA370217096 |
104 | I>V | No |
Ensembl ClinGen |
|
|
RCV000579173 rs1424203921 CA370217103 |
105 | K>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1466753928 CA579628591 |
106 | K>ST* | No |
ClinGen gnomAD |
|
|
rs1165594064 CA370217118 |
107 | K>E | No |
ClinGen gnomAD |
|
| rs759663956 | 107 | K>N | Variant assessed as Somatic; 9.448e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776711849 CA4610170 |
107 | K>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 107 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4610195 rs761639209 |
108 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370217389 rs761639209 |
108 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772186443 CA4610196 |
110 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs368136293 CA4610197 |
110 | C>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs866259329 CA171398208 |
112 | Q>* | No |
ClinGen Ensembl |
|
|
CA4610198 rs760327858 |
112 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA370217457 rs1158864657 |
112 | Q>R | No |
gnomAD ClinGen |
|
|
rs1050386080 CA171398215 |
113 | P>R | No |
Ensembl ClinGen |
|
|
CA4610202 rs562954265 |
115 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs753330091 CA4610200 |
115 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA171398240 rs911352678 |
116 | F>L | No |
Ensembl ClinGen |
|
|
rs1473852586 CA370217512 |
117 | N>I | No |
ClinGen TOPMed |
|
|
CA4610203 rs764901131 |
119 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377092975 CA4610204 |
119 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4610205 rs757592301 |
120 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291324635 CA370217551 |
121 | P>A | No |
gnomAD ClinGen |
|
|
CA4610206 rs781752268 |
121 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA370217558 rs750937838 |
122 | E>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4610207 rs750937838 |
122 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610208 rs531760334 |
124 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780022348 CA4610209 |
125 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749349051 CA370217621 |
126 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779174052 CA4610212 |
127 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs768800693 CA4610211 |
127 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779174052 CA370217628 |
127 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4610214 rs771988181 |
132 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773072616 CA4610215 |
133 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414122262 CA370217724 |
134 | M>I | No |
TOPMed ClinGen |
|
|
CA370217714 rs1293330869 |
134 | M>L | No |
ClinGen TOPMed |
|
|
rs760700224 CA4610217 |
135 | A>D | No |
ExAC gnomAD ClinGen |
|
|
rs760700224 CA4610216 |
135 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs776034545 CA4610218 |
136 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4610219 rs759051624 |
137 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752393826 CA4610221 |
140 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370217786 rs1332331260 |
141 | Q>K | No |
ClinGen gnomAD |
|
|
CA4610223 rs767885170 |
142 | K>E | No |
ExAC gnomAD ClinGen |
|
|
CA370217813 rs1462367365 |
143 | T>A | No |
TOPMed ClinGen |
|
|
rs1322091853 CA370217831 |
144 | N>S | No |
ClinGen gnomAD |
|
|
rs139607465 CA370217837 |
145 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200828507 CA4610251 |
148 | D>E | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4610250 rs778106402 |
148 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4610252 rs201403389 |
149 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370218222 rs377282296 |
151 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370218219 rs377282296 |
151 | I>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 151 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4610254 rs769573711 |
151 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4610253 rs377282296 |
151 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262698270 CA370218231 |
152 | L>H | No |
ClinGen TOPMed |
|
|
rs1301569969 CA370218238 |
153 | L>V | No |
gnomAD ClinGen |
|
|
CA4610255 rs775015523 |
154 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1585767784 CA370218265 |
154 | F>L | No |
Ensembl ClinGen |
|
|
CA370218256 rs1316379302 |
154 | F>V | No |
ClinGen TOPMed |
|
|
CA370218290 rs1366000746 |
156 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748767123 CA4610256 |
158 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370045720 CA4610257 |
159 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1217185570 CA370218362 |
161 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370218370 rs1474480741 |
162 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4610258 rs761012601 |
162 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185950994 CA370218392 |
163 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs542445775 CA4610260 |
164 | P>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA171399930 rs369324548 |
164 | P>S | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs765620307 CA4610262 |
166 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760110485 CA4610261 |
166 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA370218426 rs1320239178 |
167 | E>* | No |
gnomAD ClinGen |
|
|
CA4610264 rs758525473 |
168 | I>S | No |
ExAC gnomAD ClinGen |
|
|
CA370218442 rs758525473 |
168 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs201120541 CA4610266 |
169 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4610267 rs373464735 |
170 | S>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs781065159 CA4610268 |
170 | S>T | No |
ExAC gnomAD ClinGen |
|
|
RCV000712277 RCV000194980 rs2442513 |
171 | R>= | No |
ClinVar dbSNP |
|
|
CA4610272 VAR_046746 rs2442513 CA4610271 |
171 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs1264171506 CA370218486 |
172 | H>P | No |
TOPMed ClinGen |
|
|
CA4610274 rs748855185 |
173 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs779945146 CA4610273 |
173 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1253771774 CA370218514 |
174 | S>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1253771774 CA370218516 |
174 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA370218525 rs370831760 |
175 | A>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610276 rs370831760 |
175 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1440099727 CA370218541 |
176 | M>I | No |
ClinGen gnomAD |
|
|
CA4610277 rs747848442 |
176 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs181765480 RCV000375188 CA4610278 |
177 | E>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
rs1160025910 CA370218547 |
177 | E>Q | No |
TOPMed gnomAD ClinGen |
|
|
COSM282728 CA370218570 COSM331628 rs1405708845 |
178 | K>N | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1394007610 CA370218577 |
179 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370218595 rs1297320034 |
181 | Q>K | No |
TOPMed ClinGen |
|
|
CA370218619 rs1396085854 |
182 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs759784204 CA4610280 |
182 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370218663 rs1324829574 |
186 | K>E | No |
gnomAD ClinGen |
|
|
rs1223767398 CA370218716 |
190 | L>H | No |
ClinGen gnomAD |
|
|
rs764285022 CA4610285 |
190 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370218730 rs1274318455 |
191 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1337079581 CA370218755 |
194 | S>A | No |
ClinGen gnomAD |
|
|
rs1268651795 CA370218860 |
194 | S>F | No |
ClinGen gnomAD |
|
|
rs1268651795 CA370218862 |
194 | S>Y | No |
gnomAD ClinGen |
|
|
CA370218869 rs1162209137 |
195 | S>F | No |
ClinGen TOPMed |
|
|
CA4610316 rs375833393 |
197 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1227410517 CA370218898 |
198 | I>V | No |
Ensembl ClinGen |
|
|
CA370218916 CA4610318 rs756924757 |
199 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1262289212 CA370218920 |
200 | Q>* | No |
gnomAD ClinGen |
|
|
rs369302385 CA4610320 |
202 | H>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1190318797 CA370218942 |
202 | H>Y | No |
gnomAD ClinGen |
|
|
CA171401490 rs145639263 |
203 | D>G | No |
1000Genomes ClinGen |
|
|
rs774707837 CA4610322 |
203 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610323 rs779062888 |
204 | N>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370218958 rs779062888 |
204 | N>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs970256800 CA171401495 |
205 | P>A | No |
ClinGen gnomAD |
|
|
rs200071210 RCV000729008 CA4610324 |
206 | S>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs760907368 CA4610325 |
206 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200071210 CA171401501 |
206 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370218998 rs1369507371 |
208 | S>T | No |
ClinGen Ensembl |
|
|
rs867949424 CA171401512 |
209 | L>P | No |
Ensembl ClinGen |
|
|
rs973602232 CA171401520 |
210 | C>S | No |
TOPMed gnomAD ClinGen |
|
|
CA370219037 rs2922828 |
212 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261251320 CA370219043 |
212 | A>V | No |
gnomAD ClinGen |
|
|
rs763114241 CA4610329 |
214 | L>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs983967995 CA171401528 |
216 | I>V | No |
Ensembl ClinGen |
|
|
rs373199125 CA4610331 |
217 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373199125 CA4610330 |
217 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370219093 rs780973934 |
218 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4610333 rs780973934 |
218 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452981227 CA370219096 |
219 | D>N | No |
gnomAD ClinGen |
|
|
CA370219116 rs1455862412 |
221 | L>M | No |
ClinGen gnomAD |
|
|
CA370219126 rs1388051980 |
222 | C>Y | No |
ClinGen gnomAD |
|
|
rs1376928115 CA370219143 |
223 | S>L | No |
ClinGen TOPMed |
|
|
rs1055428301 CA171404547 |
224 | D>E | No |
ClinGen TOPMed |
|
|
CA4610357 rs770989341 |
224 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370219413 rs1204831975 |
226 | Y>C | No |
gnomAD ClinGen |
|
|
rs1174303122 CA370219426 |
228 | A>P | No |
ClinGen TOPMed |
|
|
rs1174303122 CA370219425 |
228 | A>T | No |
ClinGen TOPMed |
|
|
CA4610359 rs746101185 |
228 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA4610361 rs180825999 |
229 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370219433 rs180825999 |
229 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1475856460 CA370219432 |
229 | G>R | No |
ClinGen gnomAD |
|
|
CA370219431 rs1475856460 |
229 | G>S | No |
ClinGen gnomAD |
|
|
rs1297949384 CA370219438 |
230 | G>A | No |
ClinGen gnomAD |
|
|
CA4610363 rs768537043 |
232 | H>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370219449 rs768537043 |
232 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171432546 CA370219460 |
233 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV000367445 CA4610364 rs774430232 |
234 | S>C | No |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA370219470 rs1460282853 |
235 | F>S | No |
gnomAD ClinGen |
|
|
CA370219480 rs1198192706 |
236 | D>E | No |
TOPMed ClinGen |
|
|
rs1375825658 CA370219477 |
236 | D>G | No |
ClinGen gnomAD |
|
|
CA370219475 rs886063057 |
236 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1375825658 CA370219478 |
236 | D>V | No |
ClinGen gnomAD |
|
|
CA171404548 rs1048177596 |
237 | D>G | No |
TOPMed gnomAD ClinGen |
|
|
CA4610365 rs761775509 |
237 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA370219497 rs1214599718 |
239 | C>F | No |
TOPMed gnomAD ClinGen |
|
|
CA370219509 rs1297297978 |
241 | N>Y | No |
ClinGen gnomAD |
|
|
CA370219517 rs1203992018 |
242 | S>L | No |
ClinGen gnomAD |
|
|
rs767149668 CA4610366 |
242 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA370219521 rs1362816734 |
243 | G>R | No |
TOPMed ClinGen |
|
|
CA171404549 rs942042750 |
244 | C>Y | No |
ClinGen TOPMed |
|
|
CA4610370 rs201947779 |
246 | N>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4610369 rs766021422 |
246 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758776316 CA4610371 |
249 | R>K | No |
ExAC ClinGen |
|
|
rs1187123427 CA370219574 |
250 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
CA370219787 rs1421737234 |
252 | E>V | No |
ClinGen gnomAD |
|
|
CA370219790 rs1427024116 |
253 | G>R | No |
gnomAD ClinGen |
|
|
rs1436315786 CA370219803 |
255 | I>V | No |
ClinGen gnomAD |
|
|
rs757700603 CA4610375 |
256 | N>I | No |
ExAC gnomAD ClinGen |
|
|
CA171404550 rs772459401 |
256 | N>K | No |
Ensembl ClinGen |
|
|
CA4610374 rs757700603 |
256 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4610377 rs745931849 |
257 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs1038572992 CA171404551 |
257 | D>H | No |
Ensembl ClinGen |
|
|
rs371986213 CA4610379 |
262 | V>L | No |
ESP ExAC gnomAD ClinGen |
|
|
CA4610380 rs774231761 |
263 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA4610382 rs772886224 |
266 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs766004097 CA370219879 |
267 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766004097 CA4610384 |
267 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs753524230 CA4610385 |
268 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA370219889 rs1253814305 |
269 | L>V | No |
gnomAD ClinGen |
|
|
CA370219895 rs1455435793 |
270 | K>Q | No |
ClinGen gnomAD |
|
|
rs1171453989 CA370219913 |
272 | N>S | No |
ClinGen gnomAD |
|
|
CA4610387 rs764452088 |
273 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs368612589 CA4610389 |
274 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA171404553 rs767993463 |
275 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs990112095 CA171404554 |
275 | H>R | No |
Ensembl ClinGen |
|
|
CA4610390 rs767993463 |
275 | H>Y | No |
ClinGen ExAC gnomAD |
|
| rs1563216932 | 276 | S>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA171404555 rs890702882 |
276 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1342962561 CA370219945 |
277 | S>L | No |
ClinGen gnomAD |
|
|
rs750528950 CA4610391 |
278 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4610393 rs756218178 |
280 | F>V | No |
ExAC ClinGen |
|
|
CA4610394 rs779936175 |
281 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA370219971 rs1372648737 |
282 | H>Y | No |
ClinGen gnomAD |
|
|
CA370219979 rs1443570598 |
283 | L>F | No |
gnomAD ClinGen |
|
|
CA171404556 rs967240608 |
284 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1273503084 CA370219991 |
285 | K>E | No |
gnomAD ClinGen |
|
|
rs149813931 CA370220004 |
287 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4610395 rs149813931 RCV000732450 |
287 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs1224868091 CA370220010 |
287 | S>R | No |
ClinGen gnomAD |
|
|
CA370220022 rs201231900 |
289 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610397 rs200814676 |
290 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4610400 rs770475132 |
293 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585805796 CA370220045 |
293 | S>N | No |
Ensembl ClinGen |
|
|
rs759252365 CA4610402 CA370220055 |
294 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610401 rs375224345 |
294 | N>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610404 rs774749475 |
300 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370220114 rs1322437355 |
303 | Q>* | No |
gnomAD ClinGen |
|
|
CA370220134 rs2083914 |
304 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370220158 rs1281795808 |
306 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs750948391 CA4610407 |
306 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4610408 rs750948391 |
306 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs561794147 CA4610409 |
307 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610410 rs767364573 |
308 | G>D | No |
ExAC gnomAD ClinGen |
|
|
RCV000727635 CA4610412 rs199865930 |
310 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779253079 CA4610413 RCV000598224 |
311 | V>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA370220203 rs1208326543 |
311 | V>L | No |
gnomAD ClinGen |
|
|
CA370220217 rs200406468 |
312 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4610415 rs200406468 |
312 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370220220 rs1223121650 |
313 | P>A | No |
ClinGen TOPMed |
|
|
CA4610416 rs758259340 |
313 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs930557 CA370220230 |
314 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1419441801 CA370220245 |
315 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1471501840 CA370220279 |
318 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370220277 rs1471501840 |
318 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA370220289 rs1251429918 |
319 | A>S | No |
ClinGen TOPMed |
|
|
rs1251429918 CA370220286 |
319 | A>T | No |
TOPMed ClinGen |
|
|
rs1396703635 CA370220294 |
319 | A>V | No |
ClinGen gnomAD |
|
|
CA4610419 rs776234658 |
320 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA370220299 rs1585806655 COSM1635838 |
320 | G>V | liver [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
rs1247384323 CA370220315 |
322 | S>P | No |
ClinGen gnomAD |
|
|
CA370220326 rs1226583347 |
323 | Q>E | No |
ClinGen TOPMed |
|
|
CA370220351 rs1331378989 |
324 | E>D | No |
ClinGen gnomAD |
|
|
CA4610420 rs745348836 |
325 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs185613641 CA4610423 |
326 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370220364 rs1294409873 |
326 | F>S | No |
ClinGen gnomAD |
|
|
rs773404531 CA370220400 |
328 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284555340 CA370220396 |
328 | E>G | No |
TOPMed ClinGen |
|
|
rs1283831308 CA370220412 |
329 | K>R | No |
ClinGen gnomAD |
|
|
rs761279540 CA4610425 |
330 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
RCV001963765 COSM106500 CA4610427 rs143393335 |
331 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar NCI-TCGA dbSNP |
|
rs373336510 CA370220432 |
331 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4610428 rs373336510 |
331 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA370220429 rs143393335 |
331 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370220443 CA4610429 rs765618996 |
332 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM751014 CA4610430 rs752969100 |
334 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA370220461 rs752969100 |
334 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA370220458 rs1563217690 |
334 | P>T | No |
ClinGen Ensembl |
|
|
rs758634945 CA4610431 |
335 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs777645060 CA4610432 |
337 | S>C | No |
ExAC gnomAD ClinGen |
|
|
rs373744939 CA4610435 |
340 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1394366505 CA370220529 |
341 | G>A | No |
ClinGen gnomAD |
|
|
rs745450970 CA4610436 |
341 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1333669098 CA370220540 |
342 | H>L | No |
TOPMed gnomAD ClinGen |
|
|
rs200289785 CA370220546 |
342 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866353500 CA171404562 |
342 | H>Y | No |
Ensembl ClinGen |
|
|
rs1229941446 CA370220552 |
343 | L>F | No |
gnomAD ClinGen |
|
|
CA370220578 rs1217631287 |
345 | I>M | No |
ClinGen TOPMed |
|
|
rs199750676 CA4610439 |
346 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199750676 CA370220582 |
346 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1234681223 CA370220594 |
347 | S>P | No |
gnomAD ClinGen |
|
|
CA4610441 rs773669014 |
348 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261875539 CA370220611 |
349 | P>A | No |
ClinGen gnomAD |
|
|
CA171404563 rs981284257 |
349 | P>R | No |
ClinGen Ensembl |
|
|
CA370220621 rs1448187430 |
350 | R>K | No |
gnomAD ClinGen |
|
| TCGA novel | 350 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4610442 CA171404564 rs540202402 |
350 | R>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs532399692 CA4610444 |
352 | S>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs760049854 CA4610445 |
353 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA4610446 rs765416731 |
354 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA370220668 rs1563217938 |
355 | K>* | No |
Ensembl ClinGen |
|
|
CA4610447 rs763298630 |
355 | K>M | No |
ExAC gnomAD ClinGen |
|
|
CA4610448 CA4610449 rs200976069 |
355 | K>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610451 rs780975142 |
356 | R>* | No |
ExAC gnomAD ClinGen |
|
|
CA4610452 rs750374471 |
356 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779574623 CA370220687 |
357 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748769264 CA4610455 |
357 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs1232487805 CA370220696 |
358 | R>G | No |
gnomAD ClinGen |
|
|
rs1176464285 CA370220704 |
358 | R>S | No |
TOPMed ClinGen |
|
|
CA370220707 rs1261193951 |
359 | V>I | No |
gnomAD ClinGen |
|
|
CA370220734 rs1352243272 |
361 | H>P | No |
ClinGen gnomAD |
|
|
CA370220740 rs1206213919 |
361 | H>Q | No |
ClinGen gnomAD |
|
|
CA4610457 rs371315221 |
363 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471646973 CA370220756 |
364 | H>D | No |
ClinGen TOPMed |
|
|
rs1041939771 CA171404565 |
364 | H>Q | No |
ClinGen TOPMed |
|
|
rs1471646973 CA370220757 |
364 | H>Y | No |
TOPMed ClinGen |
|
|
CA370220785 rs1431763645 |
366 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1269975330 CA370220775 |
366 | P>S | No |
ClinGen gnomAD |
|
|
CA4610460 rs190026099 COSM1214741 |
367 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4610458 rs190026099 |
367 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs190026099 CA4610459 |
367 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370220803 rs1389718208 |
368 | K>R | No |
ClinGen gnomAD |
|
|
CA370220840 rs372091056 |
371 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4610464 rs372091056 |
371 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4610465 rs774442894 |
372 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA370220856 rs1295479371 |
372 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
CA370220860 rs373762532 |
373 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384491510 CA370220872 |
374 | K>N | No |
TOPMed ClinGen |
|
|
CA171404566 rs367823840 |
374 | K>R | No |
ESP TOPMed ClinGen |
|
|
rs1585809055 CA370220899 |
376 | S>N | No |
Ensembl ClinGen |
|
|
rs767238483 CA4610467 |
376 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA370220906 rs1352183391 |
377 | T>P | No |
ClinGen gnomAD |
|
|
CA370220910 rs1352183391 |
377 | T>S | No |
ClinGen gnomAD |
|
|
CA4610468 rs750182509 |
378 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610469 rs201696439 |
379 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4610470 rs766284057 |
380 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
rs753406650 COSM751013 CA4610471 |
381 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 382 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449134332 CA370220963 |
382 | M>L | No |
ClinGen gnomAD |
|
|
rs200513127 CA4610472 |
383 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209549862 CA370220996 |
384 | R>S | No |
ClinGen gnomAD |
|
|
CA370221032 rs747765735 |
387 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758015103 CA4610475 |
388 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs372491727 CA4610477 |
389 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs534041070 CA4610479 |
390 | S>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs534041070 CA4610478 |
390 | S>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs970555833 CA171404568 |
391 | E>K | No |
ClinGen TOPMed |
|
|
CA370221090 rs2515569 |
392 | D>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA370221087 rs1234644201 |
392 | D>N | No |
ClinGen TOPMed |
|
|
CA370221088 rs2515569 |
392 | D>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610481 rs774441901 |
393 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs369922796 CA4610482 |
393 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370221105 rs1585809746 |
394 | L>V | No |
Ensembl ClinGen |
|
|
CA370221119 rs963664172 |
395 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4610483 rs201128010 |
396 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370221127 rs1227689972 |
397 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4610486 rs754883223 |
398 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA171404571 rs751239284 |
400 | P>H | No |
Ensembl ClinGen |
|
|
CA370221145 rs1385627516 |
401 | A>S | No |
ClinGen TOPMed |
|
|
CA4610490 rs377725772 |
401 | A>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610491 rs756553153 |
404 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA171404573 rs780510014 |
405 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4610494 rs556803400 |
405 | L>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs780510014 CA4610492 |
405 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370221176 rs774338796 CA4610495 |
406 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA4610496 rs748241298 |
407 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370221198 rs1450124298 |
410 | S>T | No |
ClinGen gnomAD |
|
|
rs760817198 CA4610500 |
412 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748859202 CA171404574 |
412 | Y>N | No |
Ensembl ClinGen |
|
|
rs776433942 CA4610501 |
413 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220399973 CA370221224 |
414 | D>H | No |
TOPMed ClinGen |
|
|
CA370221223 rs1220399973 |
414 | D>N | No |
TOPMed ClinGen |
|
|
CA4610504 rs377204886 |
415 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4610502 rs199724219 |
415 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1226568057 CA370221231 |
415 | Y>H | No |
gnomAD ClinGen |
|
|
RCV000521381 CA4610503 rs199724219 |
415 | Y>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1053368722 CA171404575 |
418 | P>A | No |
ClinGen TOPMed |
|
|
CA4610505 rs370430162 |
421 | L>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA370221279 rs1235853162 |
422 | K>R | No |
gnomAD ClinGen |
|
|
rs1585810714 CA370221287 |
423 | E>G | No |
Ensembl ClinGen |
|
|
CA370221293 rs1333908443 |
424 | R>K | No |
TOPMed gnomAD ClinGen |
|
|
CA4610508 CA4610509 rs574544550 |
424 | R>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 425 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456615618 CA370221307 |
426 | S>* | No |
ClinGen TOPMed |
|
|
CA370221313 rs1250072106 |
427 | E>V | No |
TOPMed gnomAD ClinGen |
|
|
CA4610511 rs199553451 |
429 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs199553451 CA370221324 |
429 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585810943 CA370221328 |
429 | L>P | No |
ClinGen Ensembl |
|
|
rs560335291 CA4610512 |
430 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4610514 rs376658910 |
431 | P>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1024644025 CA370221338 |
432 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1024644025 CA171404578 |
432 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757893077 CA171404579 |
433 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA171404580 rs757893077 |
433 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747252085 CA4610516 |
434 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1322156613 CA370221359 |
435 | L>R | No |
ClinGen gnomAD |
|
|
rs771097532 CA4610518 |
437 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs771097532 CA4610517 |
437 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA370221368 rs1362502213 |
437 | S>P | No |
ClinGen gnomAD |
|
|
rs769677828 CA4610520 |
439 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370221383 rs1262180519 |
440 | A>T | No |
TOPMed ClinGen |
|
|
rs1221473567 CA370221388 |
440 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1040240388 CA171404581 |
441 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA370221399 rs1225298687 |
442 | L>W | No |
TOPMed ClinGen |
|
|
CA370221409 rs775492524 |
443 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370221422 rs1384811985 |
445 | R>I | No |
ClinGen TOPMed |
|
|
CA370221428 rs1345282641 |
446 | S>N | No |
TOPMed gnomAD ClinGen |
|
|
CA4610523 rs374630259 |
446 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1041804036 CA171404583 |
448 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA370221445 rs1470589773 |
449 | K>E | No |
ClinGen TOPMed |
|
|
CA370221453 rs1478862342 |
450 | K>E | No |
ClinGen gnomAD |
|
|
CA4610528 rs755368383 |
452 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4610529 rs779084264 |
452 | R>K | No |
ExAC gnomAD ClinGen |
|
|
RCV000920586 CA4610530 rs543390693 |
453 | T>I | No |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs543390693 CA4610531 |
453 | T>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777858366 CA4610532 |
454 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326131198 CA370221488 |
455 | I>M | No |
gnomAD ClinGen |
|
|
CA370221500 rs1438992000 |
457 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4610534 rs781463153 |
458 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4610533 rs771191484 |
458 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370221512 rs1229533579 |
459 | S>P | No |
gnomAD ClinGen |
|
|
CA370221511 rs1229533579 |
459 | S>T | No |
gnomAD ClinGen |
|
|
rs745714760 CA4610536 |
460 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370221517 rs745714760 |
460 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1319063519 CA370221533 |
462 | S>P | No |
ClinGen Ensembl |
|
|
rs1296002819 CA370221538 |
463 | C>S | No |
TOPMed ClinGen |
|
|
rs768684344 CA4610540 |
464 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4610539 rs531526435 |
464 | V>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA370221547 rs768684344 |
464 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA171404586 rs531526435 |
464 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs963117400 CA171404587 |
465 | G>R | No |
ClinGen gnomAD |
|
|
CA370221561 rs1245912272 |
467 | K>E | No |
gnomAD ClinGen |
|
| rs768835889 | 468 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370221569 rs1472912410 |
468 | T>P | No |
ClinGen gnomAD |
|
|
CA4610543 rs548329168 |
468 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370221577 rs1401577916 |
469 | R>I | No |
ClinGen TOPMed |
|
|
rs1401577916 CA370221575 |
469 | R>K | No |
TOPMed ClinGen |
|
|
CA370221576 rs1401577916 |
469 | R>T | No |
ClinGen TOPMed |
|
|
CA171404588 RCV000522678 rs911978407 |
470 | T>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs376511349 CA4610545 |
470 | T>I | No |
ESP ExAC gnomAD ClinGen |
|
|
rs747379468 CA171404589 |
471 | V>G | No |
ClinGen TOPMed |
|
|
rs369741649 CA4610547 |
471 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs369741649 CA370221584 |
471 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4610548 rs753017806 |
472 | D>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM1728728 CA370221595 rs1245850569 |
473 | I>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4610549 rs758940671 |
473 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA370221596 rs1245850569 |
473 | I>V | No |
gnomAD ClinGen |
|
|
rs764558448 CA4610550 |
474 | T>N | No |
ExAC gnomAD ClinGen |
|
|
rs751694970 CA4610551 |
475 | N>D | No |
ClinGen ExAC |
|
|
CA4610552 rs757354040 |
475 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757354040 CA370221608 |
475 | N>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781064619 CA4610553 |
476 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs912819426 CA171404590 |
477 | T>A | No |
ClinGen gnomAD |
|
|
rs926140350 CA171404591 |
477 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs926140350 CA370221622 |
477 | T>R | No |
TOPMed gnomAD ClinGen |
|
|
rs756251651 CA4610554 |
479 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs377295557 CA4610555 |
480 | T>S | No |
ESP ExAC gnomAD ClinGen |
|
|
RCV000584915 CA4610557 rs768776312 |
481 | I>F | No |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA171404592 rs768776312 |
481 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370221641 rs768776312 |
481 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1471633632 CA370221650 |
482 | S>C | No |
ClinGen gnomAD |
|
|
CA370221663 rs1411955294 |
484 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4610562 rs547478623 |
485 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369806832 CA4610560 |
485 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610563 rs775878359 |
487 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409748895 CA370221687 |
488 | G>E | No |
gnomAD ClinGen |
|
|
CA4610564 rs763289888 |
489 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs975623821 CA171404593 |
490 | G>D | No |
ClinGen TOPMed |
|
|
CA4610566 rs752063413 |
490 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs757646355 CA4610567 |
493 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370221717 rs1272664308 |
493 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA370221716 rs1272664308 |
493 | R>L | No |
gnomAD ClinGen |
|
|
RCV001818445 rs183880522 RCV000180367 CA247805 |
494 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1563219885 CA370221725 |
495 | T>A | No |
ClinGen Ensembl |
|
|
rs1342636643 CA370221728 |
495 | T>S | No |
ClinGen gnomAD |
|
|
CA4610569 rs549929887 |
496 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs549929887 CA370221734 |
496 | S>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1184692637 CA370221740 |
497 | S>I | No |
TOPMed ClinGen |
|
|
rs1200939682 CA370221735 |
497 | S>R | No |
gnomAD ClinGen |
|
|
rs753756731 CA4610571 |
498 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA171404595 rs199951156 |
498 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555880804 CA4610573 |
499 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771862271 CA4610574 |
501 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370221772 rs1293643957 |
503 | P>S | No |
TOPMed ClinGen |
|
|
CA4610576 rs746474630 |
506 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1210683737 CA370221794 |
506 | A>V | No |
TOPMed ClinGen |
|
|
rs776261508 CA4610578 |
508 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370221815 COSM282729 rs1412786825 |
509 | C>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1333771271 CA370221823 |
510 | C>W | No |
ClinGen gnomAD |
|
|
rs1366117973 CA370221824 |
511 | R>G | No |
ClinGen gnomAD |
|
|
rs1437532021 CA370221828 |
511 | R>I | No |
ClinGen gnomAD |
|
|
CA370221832 rs1241202766 |
512 | Q>E | No |
ClinGen TOPMed |
|
|
CA370221838 rs865939863 |
512 | Q>H | No |
TOPMed ClinGen |
|
|
CA4610581 rs774647639 |
513 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4610580 rs769020309 |
513 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1408509185 CA370221846 |
514 | G>E | No |
TOPMed ClinGen |
|
|
CA370221843 rs1288347978 |
514 | G>R | No |
ClinGen TOPMed |
|
|
CA4610583 rs767888873 |
515 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1304082973 CA370221851 |
515 | K>R | No |
ClinGen TOPMed |
|
|
rs1405597448 CA370221863 |
516 | E>D | No |
TOPMed ClinGen |
|
|
CA370221856 rs1342274253 |
516 | E>K | No |
gnomAD ClinGen |
|
|
rs748320867 CA171404598 |
518 | A>P | No |
TOPMed gnomAD ClinGen |
|
|
rs748320867 CA370221872 |
518 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748320867 CA171404597 |
518 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA370221875 rs1466023730 |
518 | A>V | No |
ClinGen gnomAD |
|
|
rs766504540 CA370221876 |
519 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610586 rs766504540 |
519 | C>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4610587 rs754130326 |
519 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs778879004 CA4610589 |
521 | E>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs535274041 CA370221892 |
521 | E>D | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs572671721 CA370221889 |
521 | E>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA370221897 rs1270817487 |
522 | G>E | No |
TOPMed ClinGen |
|
|
CA370221905 COSM486584 rs1175866566 |
523 | N>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA370221910 rs1199223498 |
524 | G>C | No |
TOPMed ClinGen |
|
| TCGA novel | 524 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563220283 CA370221921 |
525 | F>L | No |
ClinGen Ensembl |
|
|
CA4610592 rs777554738 |
527 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs746595896 CA4610593 |
528 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770430957 CA4610595 |
528 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4610594 rs770430957 |
528 | T>N | No |
ExAC gnomAD ClinGen |
|
|
CA370221937 rs770430957 |
528 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA370221944 rs745542150 |
529 | I>M | No |
ExAC gnomAD ClinGen |
|
|
rs1376078470 CA370221941 |
529 | I>T | No |
gnomAD ClinGen |
|
|
rs1387077404 CA370221939 |
529 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
CA4610598 rs200823026 |
530 | E>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1330570792 CA370221961 |
532 | P>H | No |
gnomAD ClinGen |
|
|
rs781352813 CA4610600 |
532 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1028875586 CA171404599 |
533 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 533 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206473891 CA370221970 |
534 | L>V | No |
gnomAD ClinGen |
|
|
rs773600678 CA4610601 |
536 | K>E | No |
ExAC gnomAD ClinGen |
|
|
CA4610602 rs761189569 |
537 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766592666 CA4610603 |
537 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370221995 rs1436276978 |
538 | H>R | No |
ClinGen TOPMed |
|
|
CA4610605 rs759874027 |
538 | H>Y | No |
ClinGen ExAC |
|
|
CA370222006 rs1412831759 |
540 | D>H | No |
gnomAD ClinGen |
|
|
rs1390169606 CA370222014 |
541 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748011724 CA370222024 |
542 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763881518 CA171404600 |
543 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610607 rs758120664 |
543 | T>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1295124257 CA370222032 |
544 | P>A | No |
gnomAD ClinGen |
|
| TCGA novel | 544 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4610609 rs370822605 |
544 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA171404601 rs1026022683 |
547 | G>E | No |
ClinGen Ensembl |
|
|
rs745360994 CA4610612 |
550 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs1008577137 CA171404603 |
551 | E>* | No |
ClinGen Ensembl |
|
|
CA370222090 rs1305862252 |
552 | M>I | No |
gnomAD ClinGen |
|
|
rs1322020484 CA370222100 |
553 | K>N | No |
ClinGen gnomAD |
|
|
CA4610615 rs188726432 COSM245622 |
555 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA4610618 rs747554108 |
556 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1424669085 CA370222151 |
562 | Q>E | No |
gnomAD ClinGen |
|
| TCGA novel | 562 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759673087 CA4610621 |
562 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA370222158 rs1423713135 |
563 | N>D | No |
gnomAD ClinGen |
|
|
CA4610622 rs765559736 |
563 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA370222163 rs1435616053 |
563 | N>K | No |
gnomAD ClinGen |
|
|
rs775578835 CA4610623 |
565 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219121446 CA370222182 |
566 | T>I | No |
TOPMed ClinGen |
|
|
rs1343371923 CA370222185 |
567 | T>A | No |
ClinGen TOPMed |
|
|
CA171404604 rs976097516 |
567 | T>I | No |
Ensembl ClinGen |
|
|
rs763175941 CA4610624 |
568 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763175941 CA370222192 |
568 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs763175941 CA370222191 |
568 | S>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751328883 CA4610626 |
569 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs757234842 CA4610627 |
570 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4610629 rs371010315 CA370222209 |
571 | S>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs376461737 CA4610628 |
571 | S>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1334795672 CA370222211 |
572 | N>D | No |
TOPMed ClinGen |
|
|
rs977547915 CA171404605 |
573 | S>C | No |
TOPMed gnomAD ClinGen |
|
|
rs977547915 CA370222222 |
573 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA370222218 rs1422831342 |
573 | S>T | No |
ClinGen TOPMed |
|
|
CA171404606 rs867661319 |
574 | S>F | No |
ClinGen Ensembl |
|
|
CA370222232 rs1265909868 |
575 | E>G | No |
ClinGen gnomAD |
|
|
rs1563220880 CA370222228 |
575 | E>K | No |
Ensembl ClinGen |
|
|
rs561690042 CA171404608 |
577 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs916159570 CA171404609 |
578 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA370222248 rs1183842185 |
578 | A>T | No |
ClinGen gnomAD |
|
|
rs916159570 CA370222252 |
578 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs778043803 CA4610631 |
579 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs777271345 CA4610632 |
582 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370222276 rs1210056774 |
582 | H>Y | No |
ClinGen TOPMed |
|
|
CA370222282 rs1275555667 |
583 | E>Q | No |
ClinGen TOPMed |
|
|
rs746307403 CA4610633 |
584 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4610634 COSM3663829 rs769776443 |
584 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs763114411 CA4610636 |
585 | C>* | No |
ExAC gnomAD ClinGen |
|
|
rs372378731 RCV001703575 CA4610637 |
587 | I>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA4610638 rs774190265 |
588 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4610639 rs761592006 |
589 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4610640 rs767234753 |
591 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563221109 CA370222346 |
592 | M>R | No |
Ensembl ClinGen |
|
|
CA370222342 rs1295435886 |
592 | M>V | No |
gnomAD ClinGen |
|
|
CA171404610 rs890221901 |
593 | E>K | No |
ClinGen Ensembl |
|
|
COSM179433 CA4610642 RCV000347342 rs115033462 RCV000901631 |
594 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs115033462 RCV000180370 CA203671 RCV002516818 |
594 | T>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370222364 rs1461084012 |
595 | S>C | No |
ClinGen gnomAD |
|
|
rs754632474 CA4610644 |
596 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778610703 CA370222385 |
598 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425701040 CA370222400 |
600 | E>V | No |
ClinGen gnomAD |
|
|
CA171404612 rs879247468 |
601 | N>H | No |
ClinGen Ensembl |
|
|
rs376710009 CA4610646 |
602 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192777656 CA171404614 |
603 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA171404613 rs192777656 |
603 | P>T | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs369120387 CA370222419 CA4610648 |
604 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA370222427 rs1322094219 |
605 | G>E | No |
ClinGen gnomAD |
|
|
rs746397446 CA4610649 |
606 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610651 rs780036557 |
607 | S>T | No |
ExAC gnomAD ClinGen |
|
|
rs1031822642 CA171404616 |
608 | G>E | No |
Ensembl ClinGen |
|
|
rs748403652 CA4610672 |
609 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs748403652 CA4610673 |
609 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA4610674 rs773045213 |
610 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610675 rs760501048 |
611 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs770836586 CA4610676 |
612 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370223329 rs1321150170 |
614 | P>R | No |
TOPMed ClinGen |
|
|
rs369118888 CA171406177 |
615 | T>K | No |
ESP TOPMed ClinGen |
|
|
rs369118888 CA171406178 |
615 | T>R | No |
ClinGen ESP TOPMed |
|
|
rs1585871100 CA370223337 |
616 | R>K | No |
Ensembl ClinGen |
|
|
rs201041518 CA4610680 |
617 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764861033 CA4610679 |
617 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
rs762733593 CA4610681 |
618 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610683 rs376110995 |
621 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370223368 rs376110995 |
621 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610682 rs376110995 |
621 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs766595782 CA4610685 |
622 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA370223374 rs201318603 |
622 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
RCV000727634 rs201318603 CA4610684 |
622 | D>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370223383 rs1563233673 |
623 | S>L | No |
Ensembl ClinGen |
|
|
rs1184142282 CA370223387 |
624 | C>R | No |
Ensembl ClinGen |
|
|
rs1290757964 CA370223389 |
624 | C>Y | No |
ClinGen gnomAD |
|
|
CA370223403 rs189380942 |
626 | G>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs557528693 CA4610690 |
626 | G>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs777963249 CA4610691 |
627 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs777963249 CA370223406 |
627 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs373532368 CA171406179 |
628 | K>N | No |
ESP ClinGen |
|
|
CA370223423 rs1238777728 |
629 | D>A | No |
gnomAD ClinGen |
|
|
CA370223421 rs1187830396 |
629 | D>H | No |
ClinGen gnomAD |
|
|
CA370223420 rs1187830396 |
629 | D>N | No |
ClinGen gnomAD |
|
|
CA370223425 rs1238777728 |
629 | D>V | No |
gnomAD ClinGen |
|
|
rs1207414051 CA370223428 |
630 | L>I | No |
ClinGen TOPMed |
|
|
rs756198546 CA4610692 |
631 | I>S | No |
ExAC gnomAD ClinGen |
|
|
CA4610693 rs377464331 |
632 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1563233839 CA370223448 |
633 | P>A | No |
ClinGen Ensembl |
|
|
rs542683341 CA4610694 |
633 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370223457 rs1472716731 |
634 | H>R | No |
ClinGen Ensembl |
|
|
rs745847798 CA4610695 |
635 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs575505705 CA4610697 |
637 | L>W | No |
ExAC gnomAD ClinGen |
|
|
rs762538004 CA4610698 |
639 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763630479 CA4610700 CA4610699 |
641 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766798721 CA4610702 |
642 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs964351268 CA171406181 |
643 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201848494 CA248230 RCV000724059 |
644 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201848494 CA4610703 |
644 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1338186025 CA370223531 |
645 | K>N | No |
gnomAD ClinGen |
|
|
CA4610704 rs765724681 |
645 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs778537115 CA171357639 |
646 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403723725 CA370215481 |
646 | P>R | No |
gnomAD ClinGen |
|
|
CA4610741 rs778537115 |
646 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299831812 CA370215483 |
647 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1299831812 CA370215484 |
647 | T>S | No |
TOPMed gnomAD ClinGen |
|
|
CA370215498 rs1330847860 |
649 | T>A | No |
gnomAD ClinGen |
|
|
rs1236410666 CA370215504 |
650 | L>S | No |
ClinGen gnomAD |
|
|
rs1586005501 CA370215503 |
650 | L>V | No |
Ensembl ClinGen |
|
|
CA370215509 rs138218829 |
651 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 652 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770163353 CA4610745 |
653 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs775790341 CA4610746 |
654 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA370215536 rs1284056939 |
655 | M>V | No |
ClinGen TOPMed |
|
|
CA171357699 rs199819073 |
656 | P>T | No |
Ensembl ClinGen |
|
|
CA370215550 rs1490001190 |
657 | S>P | No |
ClinGen gnomAD |
|
|
rs1252599901 CA370215555 |
658 | E>* | No |
gnomAD ClinGen |
|
|
rs369240170 CA4610772 |
660 | Q>E | No |
ESP ExAC gnomAD ClinGen |
|
|
CA4610773 rs753750373 |
660 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758319421 CA4610777 |
663 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370215608 rs1460668601 |
664 | I>F | No |
ClinGen gnomAD |
|
|
CA370215606 rs1460668601 |
664 | I>L | No |
ClinGen gnomAD |
|
|
rs777307293 CA4610778 |
664 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1057232612 CA171363086 COSM370930 |
665 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs746502513 CA370215620 |
666 | V>F | No |
ExAC gnomAD ClinGen |
|
|
rs746502513 CA4610779 |
666 | V>I | No |
ExAC gnomAD ClinGen |
|
|
RCV000497446 rs564538112 CA4610780 |
667 | V>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA370215634 rs1377666326 |
668 | D>V | No |
ClinGen gnomAD |
|
|
CA171363097 rs765779255 CA4610781 |
670 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 672 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768925059 CA4610783 |
672 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA370215676 rs1162010173 |
674 | S>* | No |
ClinGen Ensembl |
|
|
CA370215672 rs1243679846 |
674 | S>P | No |
TOPMed ClinGen |
|
|
rs1586025083 CA370215681 |
675 | I>T | No |
Ensembl ClinGen |
|
|
rs1289809517 CA370215678 |
675 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
rs748641264 CA370215684 |
676 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610785 rs748641264 |
676 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA370215688 rs1281466326 |
676 | A>V | No |
ClinGen TOPMed |
|
|
rs1295000815 CA370215701 |
678 | D>E | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 679 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 679 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369738631 CA370215704 |
679 | V>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs369738631 CA4610787 |
679 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs766496489 CA4610789 |
681 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370215724 rs1460710861 |
682 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs12674488 CA4610790 |
682 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370215725 rs1460710861 |
682 | T>S | No |
TOPMed gnomAD ClinGen |
|
|
rs758318947 CA370215730 |
683 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758318947 CA4610793 |
683 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370215744 rs763434327 |
685 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751138306 CA4610795 |
685 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
CA370215745 rs1173818854 |
686 | V>M | No |
ClinGen gnomAD |
|
|
CA4610797 rs200865129 |
687 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4610796 rs200865129 |
687 | L>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs529438322 CA4610799 |
688 | S>F | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4610798 rs745537006 |
688 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4610800 rs779193283 |
689 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA370215772 rs1288748526 |
690 | K>N | No |
ClinGen gnomAD |
|
|
CA370215782 rs1346249297 |
692 | L>P | No |
gnomAD ClinGen |
|
|
rs370011131 RCV001255084 CA171363291 |
693 | R>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370215789 rs1224509326 |
694 | T>A | No |
gnomAD ClinGen |
|
|
rs373258037 CA4610803 |
694 | T>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA370215798 rs1214995148 |
696 | N>H | No |
ClinGen gnomAD |
|
|
rs919465771 CA171363342 |
697 | V>M | No |
ClinGen Ensembl |
|
|
rs777514420 CA171363352 |
698 | L>R | No |
Ensembl ClinGen |
|
|
CA4610808 rs549213863 |
699 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472738259 CA370215821 |
700 | G>* | No |
TOPMed gnomAD ClinGen |
|
|
rs1472738259 CA370215819 |
700 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1190329978 CA370215826 |
701 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
rs377336996 CA4610809 |
702 | A>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610810 rs377336996 |
702 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM606026 CA4610812 rs761698331 |
703 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA171363397 rs370275760 |
703 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA171363398 rs988591006 |
705 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1427099165 RCV000760950 CA370215859 |
706 | W>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA370215858 rs1427099165 |
706 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA370215855 rs1366813272 |
706 | W>S | No |
ClinGen gnomAD |
|
|
rs749925635 CA4610813 |
707 | V>L | No |
ExAC ClinGen |
|
| TCGA novel | 708 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370215881 rs1344916776 |
710 | Y>C | No |
ClinGen gnomAD |
|
|
rs1301828537 CA370215890 |
711 | D>G | No |
ClinGen Ensembl |
|
|
RCV001820806 CA4610818 rs778229284 RCV000296048 |
712 | W>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs753362195 CA4610816 |
712 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA4610817 rs758843237 |
712 | W>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001090296 rs1811809746 |
713 | V>L | No |
ClinVar dbSNP |
|
|
CA370217244 rs1262826149 |
715 | W>* | No |
ClinGen TOPMed |
|
|
rs201599657 CA370217248 |
715 | W>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA370217246 rs1262826149 |
715 | W>S | No |
TOPMed ClinGen |
|
|
CA4610838 rs781720931 |
716 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1388592546 CA370217252 |
716 | S>T | No |
TOPMed ClinGen |
|
|
rs1371885876 CA370217291 |
719 | L>F | No |
TOPMed ClinGen |
|
|
rs1563292953 CA370217296 |
720 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs746294778 CA4610840 |
720 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370217319 rs1338117510 |
721 | H>Q | No |
gnomAD ClinGen |
|
|
rs756232439 CA4610841 |
721 | H>R | No |
ExAC gnomAD ClinGen |
|
|
CA4610842 rs200997321 |
722 | W>* | No |
ExAC gnomAD ClinGen |
|
|
rs1586136873 CA370217332 |
722 | W>S | No |
Ensembl ClinGen |
|
|
CA370217416 rs1353043911 |
727 | P>S | No |
gnomAD ClinGen |
|
|
rs575824036 CA370217452 |
729 | E>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs575824036 CA4610845 |
729 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA370217472 rs771694886 |
730 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4610846 rs771694886 |
730 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610848 rs78564196 |
731 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201078106 CA370217496 |
732 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370217489 rs1253128377 |
732 | H>N | No |
TOPMed ClinGen |
|
|
rs201078106 CA4610849 |
732 | H>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4610850 rs776254429 CA370217500 |
732 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759315277 CA4610851 |
733 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4610853 rs200049022 CA4610854 RCV000897178 |
734 | F>L | No |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs750962799 CA4610856 |
735 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs377727146 CA4610855 |
735 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1348640968 CA370217556 |
736 | A>V | No |
ClinGen TOPMed |
|
|
rs780230267 CA4610858 |
737 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4610859 rs780230267 |
737 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA171386979 rs577172057 |
738 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA171386982 rs577172057 |
738 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1294842940 CA370216179 |
739 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1294842940 CA370216180 |
739 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs374596700 CA4611463 |
741 | R>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4611464 rs374596700 |
741 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4611465 rs779231385 |
741 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs779231385 CA4611466 |
741 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370216200 rs1563202013 |
743 | E>A | No |
Ensembl ClinGen |
|
|
rs768268033 CA4611467 |
743 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768268033 CA370216198 |
743 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450951634 CA370216208 |
744 | C>F | No |
ClinGen TOPMed |
|
|
CA4611468 rs537341508 |
745 | H>Y | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1225196944 CA370216225 |
746 | L>F | No |
TOPMed ClinGen |
|
|
rs770873270 CA4611469 |
747 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1308019901 CA370216232 |
748 | A>T | No |
ClinGen TOPMed |
|
|
rs1586835082 CA370216243 |
749 | G>V | No |
Ensembl ClinGen |
|
|
CA4611473 rs765181940 |
750 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370216247 rs765181940 |
750 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 750 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA171436493 rs765181940 |
750 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4611476 rs764106599 |
751 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA4611477 rs373658774 |
752 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs536823455 CA4611479 |
752 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 753 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190682156 CA370216265 |
754 | T>N | No |
TOPMed ClinGen |
|
|
CA370216262 rs1586835246 |
754 | T>P | No |
Ensembl ClinGen |
|
|
rs1190682156 CA370216266 |
754 | T>S | No |
ClinGen TOPMed |
|
|
CA4611481 rs758637845 |
755 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370216269 rs1399874810 |
755 | L>V | No |
gnomAD ClinGen |
|
|
CA370216283 rs1328109877 |
757 | A>T | No |
gnomAD ClinGen |
|
|
rs771090309 CA4611484 |
757 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs1586835367 CA370216288 |
758 | D>A | No |
Ensembl ClinGen |
|
|
CA370216286 rs376082728 |
758 | D>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4611487 rs376082728 RCV000712275 |
758 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1277732513 CA370216294 |
759 | Q>E | No |
ClinGen gnomAD |
|
|
rs991885863 CA171436585 |
759 | Q>H | No |
TOPMed ClinGen |
|
|
rs762864646 CA4611488 |
759 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs1313572403 CA370216303 |
760 | P>R | No |
ClinGen TOPMed |
|
|
CA172517 rs1057090 RCV000146303 |
761 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA172519 RCV000146304 rs1057090 |
761 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA370216314 rs1263106043 |
762 | M>I | No |
gnomAD ClinGen |
|
|
CA4611489 rs761637657 |
764 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1389559875 CA370216331 |
765 | S>A | No |
gnomAD ClinGen |
|
|
rs200820759 CA171436616 |
765 | S>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 767 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755558734 CA4611491 |
767 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4611492 rs766038194 |
769 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1387093436 CA370216357 |
769 | S>R | No |
gnomAD ClinGen |
|
|
CA370216364 RCV000490102 rs1085307735 |
770 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA4611493 rs369802722 |
771 | P>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1039322742 CA370216366 |
771 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA370216365 rs1039322742 |
771 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| rs1401112399 | 771 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039322742 CA171436630 |
771 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA171436625 rs369802722 |
771 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA171436623 rs369802722 |
771 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1401112399 | 772 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4611496 rs747607937 |
775 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA370216389 rs1195804691 |
775 | L>R | No |
ClinGen TOPMed |
|
|
CA370216388 rs747607937 |
775 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs781736683 CA4611498 |
776 | C>* | No |
ExAC gnomAD ClinGen |
|
|
CA4611497 rs757699647 |
776 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1586835713 CA370216403 |
777 | E>D | No |
ClinGen Ensembl |
|
|
CA171436647 rs958775345 |
777 | E>K | No |
ClinGen Ensembl |
|
|
rs75204744 CA370216406 |
778 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1323619409 CA370216413 |
779 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1323619409 CA370216414 |
779 | V>D | No |
TOPMed gnomAD ClinGen |
|
|
rs751832733 RCV000992296 CA4611500 |
779 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1256161687 CA370216418 |
780 | H>P | No |
TOPMed ClinGen |
|
|
rs1208842915 CA370216427 |
781 | L>P | No |
TOPMed ClinGen |
|
|
rs372319072 CA171436668 |
782 | C>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4611504 CA370216435 COSM39732 rs189716626 |
783 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4611507 rs773080293 |
785 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4611505 rs759811955 |
785 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1380198789 CA370216456 |
787 | S>G | No |
ClinGen TOPMed |
|
|
CA171436757 rs765841327 |
787 | S>I | No |
ExAC gnomAD ClinGen |
|
|
rs765841327 CA4611509 |
787 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA370216466 rs1446054967 |
788 | Q>H | No |
ClinGen TOPMed |
|
|
CA370216472 rs759095287 |
789 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs759095287 CA4611511 |
789 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs752006879 CA4611513 |
790 | P>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000998983 CA370216475 rs1586835974 |
790 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA370216478 rs373345310 |
791 | R>C | No |
ESP ClinGen |
|
|
CA4611514 rs575272870 |
791 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs373345310 CA171436770 |
791 | R>S | No |
ESP ClinGen |
|
|
CA370216484 rs1391540755 |
792 | Q>* | No |
gnomAD ClinGen |
|
|
rs781673106 CA370216493 |
793 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4611515 rs781673106 |
793 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1006589862 CA171436780 |
794 | S>T | No |
ClinGen TOPMed |
|
|
rs750857233 CA4611517 |
795 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4611520 rs749329332 |
796 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs374800057 CA4611519 |
796 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC gnomAD ClinGen NCI-TCGA |
|
rs374800057 CA370216508 |
796 | V>L | No |
1000Genomes ESP ExAC gnomAD ClinGen |
|
|
CA370216523 rs1040738213 CA171436818 |
798 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748017771 CA4611523 |
799 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369127299 CA370216527 |
799 | P>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs7017210 CA370216536 |
800 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117059261 CA4611524 |
800 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117059261 CA370216535 |
800 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs45540031 CA171436845 |
801 | S>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs968645187 CA171436851 |
801 | S>R | No |
TOPMed gnomAD ClinGen |
|
|
rs370842740 CA370216543 |
802 | G>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4611527 rs776271896 |
802 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs370842740 CA4611525 CA171436866 RCV000729675 |
802 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA4611526 rs776271896 |
802 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA370216570 rs1408412383 |
806 | A>P | No |
gnomAD ClinGen |
|
|
CA4611530 rs528069901 |
808 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756558938 CA4611532 CA370216591 |
809 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750765497 CA370216589 |
809 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750765497 CA4611531 |
809 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1459351563 CA854388242 |
810 | Y>* | No |
ClinGen TOPMed |
|
|
CA4611534 rs201337403 |
811 | L>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs201337403 CA370216601 |
811 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA171436935 rs752120382 |
811 | L>V | No |
TOPMed ClinGen |
|
|
rs755280764 CA4611536 |
812 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs794727105 CA240152 RCV000174600 |
812 | S>P | No |
Ensembl ClinGen ClinVar dbSNP |
|
|
CA4611537 rs748294629 |
813 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs866221889 CA171436978 |
815 | W>* | No |
Ensembl ClinGen |
|
|
CA370216644 rs1212206525 |
815 | W>L | No |
TOPMed ClinGen |
|
|
rs1454071338 CA370216651 |
816 | V>L | No |
gnomAD ClinGen |
|
|
CA171464363 rs772221154 |
818 | D>E | No |
Ensembl ClinGen |
|
|
rs777703312 CA4611539 |
818 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777703312 CA370216669 |
818 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370219287 rs1371433213 |
820 | I>V | No |
ClinGen gnomAD |
|
|
rs1586908818 CA370219297 |
821 | T>I | Microcephaly 1, primary, autosomal recessive (mcph1) [Ensembl] | No |
ClinGen Ensembl |
|
rs1305966078 CA370219299 |
822 | Q>E | No |
gnomAD ClinGen |
|
|
rs35614690 CA4611574 |
822 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs376135072 CA171464382 |
823 | H>R | No |
ESP TOPMed ClinGen |
|
|
CA4611575 rs781210833 |
823 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4611576 rs745590100 |
824 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs564787570 CA4611578 |
825 | V>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA370219318 rs564787570 |
825 | V>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1554492950 CA370219328 |
826 | C>F | No |
ClinGen Ensembl |
|
|
rs587783740 RCV000146322 CA172537 |
829 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1297611338 CA370219342 |
829 | E>K | No |
gnomAD ClinGen |
|
| TCGA novel | 830 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4611579 rs778529737 |
830 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs933227306 CA171464418 |
831 | Y>H | No |
Ensembl ClinGen |
|
|
rs1201369193 CA370219371 |
833 | L>S | No |
gnomAD ClinGen |
|
|
CA171464448 rs768526572 CA4611582 |
834 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA171464468 rs902477348 |
835 | Q>R | No |
ClinGen Ensembl |
1 associated diseases with Q8NEM0
[MIM: 251200]: Microcephaly 1, primary, autosomal recessive (MCPH1)
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:16211557}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:16211557}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q8NEM0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BRCT domain | 1 - 93 | IPR001357-1 |
| domain | BRCT domain | 642 - 730 | IPR001357-2 |
| domain | BRCT domain | 751 - 833 | IPR001357-3 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| bone development | The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| establishment of mitotic spindle orientation | A cell cycle process that sets the alignment of mitotic spindle relative to other cellular structures. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| neuronal stem cell population maintenance | Any process in by an organism or tissue maintains a population of neuronal stem cells. |
| protein localization to centrosome | A process in which a protein is transported to, or maintained at, the centrosome. |
| regulation of centrosome cycle | Any process that modulates the frequency, rate or extent of the centrosome cycle, the processes of centrosome duplication and separation. |
| regulation of chromosome condensation | Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
| regulation of kinase activity | Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPILKDVV | AYVEVWSSNG | TENYSKTFTT | QLVDMGAKVS | KTFNKQVTHV | IFKDGYQSTW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DKAQKRGVKL | VSVLWVEKCR | TAGAHIDESL | FPAANMNEHL | SSLIKKKRKC | MQPKDFNFKT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PENDKRFQKK | FEKMAKELQR | QKTNLDDDVP | ILLFESNGSL | IYTPTIEINS | RHHSAMEKRL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QEMKEKRENL | SPTSSQMIQQ | SHDNPSNSLC | EAPLNISRDT | LCSDEYFAGG | LHSSFDDLCG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NSGCGNQERK | LEGSINDIKS | DVCISSLVLK | ANNIHSSPSF | THLDKSSPQK | FLSNLSKEEI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NLQRNIAGKV | VTPDQKQAAG | MSQETFEEKY | RLSPTLSSTK | GHLLIHSRPR | SSSVKRKRVS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HGSHSPPKEK | CKRKRSTRRS | IMPRLQLCRS | EDRLQHVAGP | ALEALSCGES | SYDDYFSPDN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKERYSENLP | PESQLPSSPA | QLSCRSLSKK | ERTSIFEMSD | FSCVGKKTRT | VDITNFTAKT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ISSPRKTGNG | EGRATSSCVT | SAPEEALRCC | RQAGKEDACP | EGNGFSYTIE | DPALPKGHDD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DLTPLEGSLE | EMKEAVGLKS | TQNKGTTSKI | SNSSEGEAQS | EHEPCFIVDC | NMETSTEEKE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NLPGGYSGSV | KNRPTRHDVL | DDSCDGFKDL | IKPHEELKKS | GRGKKPTRTL | VMTSMPSEKQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NVVIQVVDKL | KGFSIAPDVC | ETTTHVLSGK | PLRTLNVLLG | IARGCWVLSY | DWVLWSLELG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HWISEEPFEL | SHHFPAAPLC | RSECHLSAGP | YRGTLFADQP | AMFVSPASSP | PVAKLCELVH |
| 790 | 800 | 810 | 820 | 830 | |
| LCGGRVSQVP | RQASIVIGPY | SGKKKATVKY | LSEKWVLDSI | TQHKVCAPEN | YLLSQ |