Q9UBK8
PR
Gene name |
MTRR |
Protein name |
Methionine synthase reductase |
Names |
MSR, Aquacobalamin reductase, AqCbl reductase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4552 |
EC number |
1.16.1.8: With NAD(+) or NADP(+) as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9UBK8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QTL | X-ray | 190 A | A | 165-698 | PDB |
| 2QTZ | X-ray | 190 A | A | 165-698 | PDB |
| AF-Q9UBK8-F1 | Predicted | AlphaFoldDB |
626 variants for Q9UBK8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001059702 rs1747827267 |
1 | M>V | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_012836 RCV000007445 RCV000126873 rs1801394 RCV000144926 CA118595 RCV000007444 RCV001274255 RCV000264714 |
22 | I>M | Disorders of Intracellular Cobalamin Metabolism Down syndrome, susceptibility to Gastrointestinal stromal tumor (gist) Methylcobalamin deficiency type cblE Neural tube defects, folate-sensitive, susceptibility to Gastrointestinal stromal tumor may increase risk for spina bifida [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1747853230 RCV001206309 |
37 | C>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_012837 | 54 | V>del | HMAE [UniProt] | Yes | UniProt |
|
rs761061866 CA3195507 VAR_012838 |
56 | V>M | HMAE [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000322148 RCV003168548 CA3195516 RCV000811882 rs374239028 |
70 | R>C | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3195517 RCV001152553 RCV000545313 rs777202031 |
70 | R>H | Disorders of Intracellular Cobalamin Metabolism Variant assessed as Somatic; 0.0 impact. Methylcobalamin deficiency type cblE [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001152554 rs1748350837 |
73 | V>F | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001280370 rs1748351304 |
74 | K>E | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1408257020 RCV001201719 |
77 | Q>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001152556 CA3195536 RCV002557291 rs773984668 |
90 | R>W | Disorders of Intracellular Cobalamin Metabolism Variant assessed as Somatic; 0.0 impact. Methylcobalamin deficiency type cblE [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1579619636 RCV000805731 |
91 | Y>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066391 rs1189298981 RCV000998353 |
109 | K>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000825568 rs754990692 CA3195564 RCV001869267 RCV002487868 |
114 | R>* | Homocystinuria without methylmalonic aciduria Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001247404 CA3195565 RCV000316476 rs202110383 |
116 | Q>K | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1748692220 RCV001153839 |
122 | H>R | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3195569 rs200047657 RCV000373506 |
124 | Y>C | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850873 rs185235284 RCV000337918 CA3195575 |
128 | H>R | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_012839 | 129 | A>T | HMAE [UniProt] | Yes | UniProt |
|
RCV001241466 rs754157293 CA3195603 |
135 | L>F | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3195607 rs142714881 RCV001081253 RCV000435077 |
149 | A>V | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001336469 rs1734869328 |
162 | E>G | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886060804 RCV000293426 COSM3669476 CA10622285 RCV001861264 |
163 | I>V | Disorders of Intracellular Cobalamin Metabolism liver Methylcobalamin deficiency type cblE [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV001308481 rs757635349 CA3195618 RCV001153840 |
168 | P>L | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001245377 RCV000350585 rs147742177 RCV002487550 CA3195620 |
169 | V>M | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000126884 RCV001274256 RCV000405120 CA171001 rs1532268 RCV000144927 VAR_034595 |
175 | S>L | Disorders of Intracellular Cobalamin Metabolism Gastrointestinal stromal tumor (gist) Methylcobalamin deficiency type cblE Gastrointestinal stromal tumor [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1170879434 RCV001156471 CA359157256 |
228 | L>F | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3195666 RCV000310859 COSM1438841 rs759336378 |
230 | R>H | Disorders of Intracellular Cobalamin Metabolism large_intestine Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3195673 RCV001156472 rs371860776 RCV002558364 |
239 | S>F | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001226344 rs1734927527 |
245 | L>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752858024 RCV001226293 |
247 | P>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002488786 CA3195681 RCV000358385 RCV000872621 rs114053717 |
247 | P>S | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1734931275 RCV001206236 |
248 | E>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375908206 CA3195685 RCV002481908 RCV001043620 |
256 | E>* | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_034596 rs2303080 CA292247 RCV000557291 RCV000266246 RCV000126886 |
257 | S>T | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1377146830 RCV000691198 CA359157575 |
278 | I>V | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs79430644 RCV000871131 CA3195714 |
286 | T>M | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3195716 RCV001242402 rs766083570 |
288 | D>G | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001591019 CA3195718 RCV000642243 RCV000304993 RCV002520386 rs144899305 |
290 | I>T | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375421492 RCV001158134 RCV001882499 CA3195775 |
318 | P>S | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138098668 CA3195777 RCV002493449 RCV000795056 |
325 | Q>K | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000259869 VAR_012840 rs10064631 CA3195781 RCV000440270 RCV001274259 RCV000427790 |
333 | L>V | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158136 CA3195787 RCV000701704 rs74790259 |
341 | V>I | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3195789 rs140944718 RCV000816511 |
345 | I>M | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA170998 VAR_034597 rs162036 RCV000126870 RCV000317483 RCV001274260 RCV000144925 |
350 | K>R | Disorders of Intracellular Cobalamin Metabolism Gastrointestinal stromal tumor (gist) Methylcobalamin deficiency type cblE Gastrointestinal stromal tumor [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000766293 RCV000374314 rs796052001 RCV000186042 RCV001080399 |
364 | C>missing | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372106115 RCV002568605 RCV001244887 CA3195823 |
374 | L>F | Methylcobalamin deficiency type cblE Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746404785 RCV001347322 CA3195828 |
379 | I>V | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000263413 rs886060806 CA10622293 |
380 | P>T | Disorders of Intracellular Cobalamin Metabolism Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1737110583 RCV001212318 |
386 | R>* | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236196 rs1561245416 |
388 | L>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000661941 CA3195856 rs774333382 |
389 | V>M | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3195858 RCV001200466 rs149678769 RCV000387179 RCV000816569 |
394 | D>E | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000805181 rs1579758005 |
395 | S>missing | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_012841 | 405 | C>R | HMAE [UniProt] | Yes | UniProt |
|
RCV001342346 rs1239051004 CA359158431 |
406 | S>G | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000126872 RCV001274261 CA292220 rs2287780 RCV000295321 VAR_034598 |
415 | R>C | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642242 CA3195868 rs769915505 RCV002544667 |
416 | F>L | Methylcobalamin deficiency type cblE Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3195869 rs777997657 RCV001243293 |
418 | R>* | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001318780 rs749461781 CA3195870 |
418 | R>Q | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000126874 RCV000382140 CA292223 RCV001274262 rs16879334 VAR_034599 |
450 | P>R | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA254075 RCV000757493 RCV002512874 RCV000007449 COSM3429677 rs137853062 |
454 | S>L | Disorders of Intracellular Cobalamin Metabolism large_intestine Variant assessed as Somatic; impact. Methylcobalamin deficiency type cblE [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001280372 rs764469824 CA3195921 |
455 | C>S | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA359158801 RCV000625774 rs1554006017 |
460 | L>* | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305725 rs1737830740 |
477 | S>C | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1544504 CA254073 RCV000007446 rs137853061 RCV000210727 VAR_012842 |
487 | G>R | lung Variant assessed as Somatic; impact. Methylcobalamin deficiency type cblE Inborn genetic diseases HMAE [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
RCV001532027 rs41283145 RCV001083540 CA3195958 RCV001153941 |
490 | T>A | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002523534 rs148284479 CA3195959 RCV000289989 |
491 | G>D | Disorders of Intracellular Cobalamin Metabolism Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001280373 rs1737849237 |
497 | V>A | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1737849963 RCV001207286 |
498 | A>T | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001721331 rs16879355 VAR_056947 RCV000872900 CA3195967 |
515 | A>V | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10588405 rs147277149 RCV002500959 RCV001068078 RCV000254795 |
525 | R>* | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1738413262 RCV001336468 |
548 | G>S | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_015731 | 554 | G>R | HMAE [UniProt] | Yes | UniProt |
|
rs1738616151 RCV001280374 |
573 | A>T | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_012843 | 576 | L>del | HMAE [UniProt] | Yes | UniProt |
|
RCV000627375 RCV001834982 rs1293600145 CA359159682 |
594 | R>* | Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000144924 RCV001274263 rs10380 RCV000126880 RCV000302798 CA170995 VAR_014944 RCV001812074 |
595 | H>Y | Disorders of Intracellular Cobalamin Metabolism Gastrointestinal stromal tumor (gist) Methylcobalamin deficiency type cblE Gastrointestinal stromal tumor [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3196076 RCV001244120 rs755408035 |
597 | L>I | Variant assessed as Somatic; 0.0 impact. Methylcobalamin deficiency type cblE [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3196078 RCV001154797 rs752681512 |
598 | K>R | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001216280 CA113815808 rs939239779 |
606 | K>N | Variant assessed as Somatic; 0.0 impact. Methylcobalamin deficiency type cblE [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA3196083 rs114259126 RCV000441957 RCV001154798 RCV000872119 |
607 | V>I | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1406102673 RCV001154799 |
609 | F>L | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000778770 rs1561291075 |
643 | E>missing | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1739209079 TCGA novel RCV001306701 |
657 | A>V | Variant assessed as Somatic; impact. Methylcobalamin deficiency type cblE [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001083593 CA312754 rs148909799 RCV000514325 RCV000296913 |
661 | H>R | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201686214 RCV001158249 CA3196147 |
669 | S>N | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3196149 RCV002520387 rs775031794 RCV002524456 RCV000354530 |
674 | V>A | Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblE Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000174876 CA240502 RCV003165362 RCV001248675 rs148414435 COSM3941385 |
691 | R>C | oesophagus Methylcobalamin deficiency type cblE Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs560321328 CA113793453 |
2 | R>S | No |
ClinGen Ensembl |
|
|
rs763313419 CA359155528 |
5 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA113793471 rs560414393 |
8 | Y>H | No |
ClinGen Ensembl |
|
|
rs751400453 CA3195457 |
9 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279274094 CA359155551 |
9 | A>T | No |
ClinGen gnomAD |
|
|
CA3195461 rs756074729 |
14 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs777323334 CA3195462 |
15 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359155591 rs777323334 |
15 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748064430 CA113793501 |
17 | A>T | No |
ClinGen Ensembl |
|
|
CA359155612 rs1303591627 |
18 | I>T | No |
ClinGen TOPMed |
|
|
rs753325140 CA3195463 |
18 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs114847469 CA3195465 |
19 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs954239819 CA113793528 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs769772796 CA113793529 |
20 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs747426239 CA3195466 |
21 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs781726691 CA3195467 |
23 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359155642 rs1392496338 |
23 | C>S | No |
ClinGen gnomAD |
|
|
rs1442895511 CA359155647 |
24 | E>Q | No |
ClinGen gnomAD |
|
|
CA359155654 rs748657512 |
25 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195468 rs748657512 |
25 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195469 rs748657512 |
25 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773463459 CA3195470 |
28 | V>A | No |
ClinGen ExAC |
|
|
rs1180892266 CA359155681 |
29 | H>P | No |
ClinGen TOPMed |
|
|
CA3195471 rs749337272 |
30 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3195472 rs771299380 |
34 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3195473 rs141118068 |
34 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359155724 rs1270933581 |
36 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1355059196 CA359155734 |
37 | C>S | No |
ClinGen TOPMed |
|
|
CA359155739 rs1285884178 |
38 | I>V | No |
ClinGen TOPMed |
|
|
CA359155759 rs1237366737 |
40 | E>D | No |
ClinGen TOPMed |
|
|
CA3195476 rs775343389 |
42 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3195475 rs767281477 |
42 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs937595017 CA113793559 |
43 | K>E | No |
ClinGen gnomAD |
|
|
CA359155777 rs1475257055 |
43 | K>R | No |
ClinGen gnomAD |
|
|
rs1327568849 CA359156067 |
44 | Y>C | No |
ClinGen gnomAD |
|
|
rs1245537301 CA359156096 |
48 | T>S | No |
ClinGen gnomAD |
|
|
CA359156118 rs1561156272 |
52 | P>S | No |
ClinGen Ensembl |
|
|
rs778427395 CA3195504 |
54 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs557317536 CA113795196 |
54 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3195503 rs557317536 |
54 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3195506 rs757825721 |
55 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3195505 rs749876129 |
55 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359156138 rs761061866 |
56 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195508 rs745929848 |
57 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114930926 CA113795223 |
60 | T>A | No |
ClinGen 1000Genomes |
|
|
rs369457823 CA3195511 |
60 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3195512 rs768376029 |
61 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453598509 CA359156163 |
61 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA113795237 rs759310852 |
63 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA359156182 rs1579618485 |
64 | D>A | No |
ClinGen Ensembl |
|
|
CA3195514 COSM1754344 rs761784045 |
67 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3195515 rs769737059 |
68 | T>A | No |
ClinGen ExAC |
|
|
rs777202031 CA3195518 |
70 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359156221 rs1299635422 |
71 | K>E | No |
ClinGen gnomAD |
|
|
rs759256334 CA3195520 |
71 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3195521 rs546104831 |
72 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359156251 rs1337565844 |
75 | E>A | No |
ClinGen gnomAD |
|
|
CA359156248 rs1270054998 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA359156265 rs1561157424 |
77 | Q>* | No |
ClinGen Ensembl |
|
|
CA3195522 rs138569211 |
77 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3195524 rs757746363 |
78 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195525 rs750493900 |
79 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1561157626 CA359156285 |
80 | T>A | No |
ClinGen Ensembl |
|
|
CA3195527 rs377201796 |
81 | L>R | No |
ClinGen ESP ExAC |
|
|
CA3195528 COSM1544509 rs747303076 |
82 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3195531 rs747894104 |
83 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359156302 rs747894104 |
83 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359156301 rs1192394382 |
83 | V>F | No |
ClinGen gnomAD |
|
|
rs1254464770 CA359156308 |
84 | D>G | No |
ClinGen TOPMed |
|
|
rs769637305 CA3195532 |
85 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3195533 rs143579470 |
87 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3195535 rs770540418 |
88 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759311230 CA3195537 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359156350 rs767247740 |
91 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3195538 rs767247740 |
91 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1025032500 CA113795350 |
94 | L>P | No |
ClinGen Ensembl |
|
|
CA359156390 rs1238116731 |
95 | G>D | No |
ClinGen gnomAD |
|
|
CA3195556 rs375323482 |
96 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762091582 CA3195558 |
102 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762091582 CA3195559 |
102 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195560 rs773439429 |
103 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1484416611 CA359156454 |
105 | C>G | No |
ClinGen gnomAD |
|
|
CA3195561 rs763568058 |
106 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA359156479 rs1181616379 |
109 | K>Q | No |
ClinGen gnomAD |
|
|
rs751657876 CA113796678 |
109 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195563 rs751657876 |
109 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579633706 CA359156496 |
111 | I>T | No |
ClinGen Ensembl |
|
|
rs1561168198 CA359156552 |
120 | A>T | No |
ClinGen Ensembl |
|
|
CA3195566 rs753027704 |
120 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3195568 rs201913006 |
121 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs146068484 CA3195567 |
121 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377233867 CA3195572 |
127 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs185235284 CA359156604 |
128 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3195574 rs140035191 |
128 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA113796707 rs140035191 |
128 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768175244 CA3195576 |
130 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195578 rs763175326 |
132 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA113796718 rs770923981 |
133 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359156635 rs770923981 |
133 | V>L | No |
ClinGen gnomAD |
|
|
CA359156643 rs1321252684 |
134 | G>A | No |
ClinGen TOPMed |
|
|
rs368654030 CA113798421 |
135 | L>S | No |
ClinGen ESP |
|
|
rs553846662 CA3195604 |
141 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1194925810 CA359156711 |
143 | I>L | No |
ClinGen Ensembl |
|
|
CA113798431 rs867974337 |
147 | W>* | No |
ClinGen Ensembl |
|
|
CA359156750 rs1320312931 |
149 | A>P | No |
ClinGen gnomAD |
|
|
rs908506872 CA113798457 |
150 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs750209286 CA3195608 |
152 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs556611332 CA113798466 |
155 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs919772858 CA359156799 |
156 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs919772858 CA113798474 |
156 | S>L | No |
ClinGen gnomAD |
|
|
rs973962567 CA113798471 |
156 | S>P | No |
ClinGen Ensembl |
|
|
rs150853519 CA113798476 |
158 | R>K | No |
ClinGen ESP |
|
|
rs1478151197 CA359156817 |
159 | G>E | No |
ClinGen gnomAD |
|
|
rs937816616 CA113798484 |
160 | Q>H | No |
ClinGen Ensembl |
|
|
CA359156842 rs1489645588 |
162 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA359156835 rs1411837680 |
162 | E>K | No |
ClinGen gnomAD |
|
|
rs779803224 CA359156849 |
164 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359156851 rs1265729929 |
164 | S>N | No |
ClinGen TOPMed |
|
|
rs779803224 CA3195611 COSM1486994 |
164 | S>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs114253881 CA3195614 |
166 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3195615 rs114253881 |
166 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1299901188 CA359156864 |
166 | A>V | No |
ClinGen gnomAD |
|
|
CA3195617 rs769406733 |
167 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359156873 rs1156730016 COSM1695367 |
168 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs141053952 CA3195623 |
170 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141053952 CA359156881 |
170 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186905406 CA359156909 |
174 | S>F | No |
ClinGen gnomAD |
|
|
rs1182297284 CA359156919 |
176 | R>T | No |
ClinGen gnomAD |
|
|
CA3195626 rs773160237 |
177 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA359156933 rs1417585228 |
178 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3195627 rs762774379 |
179 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs143978300 CA359156940 CA3195628 |
180 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143978300 CA3195629 |
180 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579657342 CA359156949 |
181 | K>N | No |
ClinGen Ensembl |
|
|
CA113798640 rs996966324 |
181 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1448318571 CA359156979 |
186 | H>R | No |
ClinGen gnomAD |
|
|
rs752182014 CA3195631 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376668525 CA359156995 |
188 | E>D | No |
ClinGen gnomAD |
|
|
CA359157010 rs755787285 |
190 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs758631703 CA3195637 |
192 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs143058455 CA3195635 |
192 | E>K | No |
ClinGen ESP |
|
|
rs1561185430 CA359157029 |
194 | L>M | No |
ClinGen Ensembl |
|
|
rs747535153 CA3195639 |
195 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3195640 rs769172296 |
195 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA359157039 rs1211098985 |
196 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1211098985 CA359157040 |
196 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748186027 CA3195642 COSM1544507 |
197 | D>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748186027 CA3195643 |
197 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3195645 rs748533060 |
199 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA359157069 rs1477648506 |
200 | G>E | No |
ClinGen gnomAD |
|
|
CA3195646 rs766155854 |
201 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3776872 CA3195647 rs774166627 |
201 | R>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3195648 rs368030155 |
202 | K>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000757494 rs1561185945 CA359157086 |
203 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1330292970 CA359157096 |
204 | S>F | No |
ClinGen gnomAD |
|
|
CA359157103 rs1445083355 |
205 | E>V | No |
ClinGen gnomAD |
|
|
CA3195650 rs752235169 |
206 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA113798750 rs867018730 |
211 | A>V | No |
ClinGen Ensembl |
|
|
rs753545582 CA3195654 |
214 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3195655 rs756928383 |
214 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3195656 rs151170495 |
215 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747373546 CA3195657 |
216 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195659 rs781748543 |
217 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA359157184 rs781748543 |
217 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs115741769 CA3195658 |
217 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359157187 rs1450756143 |
218 | N>D | No |
ClinGen gnomAD |
|
|
CA3195661 rs770060665 |
218 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541734980 CA3195660 |
218 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359157197 rs1478098305 |
219 | V>A | No |
ClinGen gnomAD |
|
|
CA3195662 rs372359132 |
221 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439396842 CA359157234 |
225 | E>K | No |
ClinGen TOPMed |
|
|
rs1579658994 CA359157249 |
227 | S>P | No |
ClinGen Ensembl |
|
|
CA359157258 rs1221143878 |
228 | L>P | No |
ClinGen gnomAD |
|
|
CA113798803 rs968424539 |
229 | T>P | No |
ClinGen Ensembl |
|
|
rs1397666505 CA359157263 |
229 | T>S | No |
ClinGen gnomAD |
|
|
CA3195664 rs771164103 |
230 | R>C | No |
ClinGen ExAC TOPMed |
|
|
CA3195665 rs771164103 |
230 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs201557658 CA3195667 |
231 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359157273 rs1377188317 |
232 | V>I | No |
ClinGen TOPMed |
|
|
rs760592314 CA359157280 |
233 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760592314 CA3195670 |
233 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3195671 rs763658626 |
234 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359157286 rs1441545979 |
234 | P>S | No |
ClinGen TOPMed |
|
|
rs1238722351 CA359157289 |
235 | L>F | No |
ClinGen TOPMed |
|
|
CA113798854 rs765634416 |
236 | S>L | No |
ClinGen TOPMed |
|
|
CA359157300 rs1355405966 |
237 | Q>K | No |
ClinGen gnomAD |
|
|
CA359157314 rs1280421407 |
239 | S>T | No |
ClinGen TOPMed |
|
|
CA359157341 rs1452107142 |
243 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3195674 rs764892747 |
244 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3195675 rs764892747 |
244 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1343821146 CA359157352 |
245 | L>F | No |
ClinGen TOPMed |
|
|
rs781683793 CA3195678 |
245 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3195677 rs781683793 |
245 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1281231460 CA359157354 |
246 | P>T | No |
ClinGen Ensembl |
|
|
CA359157383 rs1161818977 |
250 | L>* | No |
ClinGen gnomAD |
|
|
rs771089950 CA3195683 |
251 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779125839 CA3195684 |
252 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945965809 CA113798888 COSM4137854 |
254 | L>M | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA359157414 rs1353165398 |
255 | Q>* | No |
ClinGen TOPMed |
|
|
CA359157412 rs1353165398 |
255 | Q>K | No |
ClinGen TOPMed |
|
|
rs1336533805 CA359157415 |
255 | Q>P | No |
ClinGen TOPMed |
|
|
rs1242426539 CA359157430 |
257 | S>C | No |
ClinGen gnomAD |
|
|
CA113798914 rs904366915 |
258 | L>F | No |
ClinGen TOPMed |
|
|
CA3195686 rs369113367 |
258 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760645361 CA3195687 |
259 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs779871392 CA3195708 |
262 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA359157487 rs1256361353 |
264 | Q>P | No |
ClinGen gnomAD |
|
|
CA3195710 rs768609406 |
265 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA359157496 rs768609406 |
265 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs747621308 CA3195712 |
272 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359157636 rs750009895 |
287 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA113804888 rs750009895 |
287 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776031136 CA3195717 |
289 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs764523081 CA3195719 |
290 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA113804922 rs138790346 |
291 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3195720 rs376109940 |
292 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs115374408 CA113804947 |
293 | T>I | No |
ClinGen 1000Genomes |
|
|
rs750478327 CA3195723 |
297 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1178318986 CA359157698 |
298 | L>S | No |
ClinGen gnomAD |
|
|
rs758638445 CA359157697 |
298 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1444323611 CA359157703 |
299 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359157717 rs1267218622 |
300 | I>M | No |
ClinGen gnomAD |
|
|
CA359157715 rs1180408744 |
300 | I>T | No |
ClinGen TOPMed |
|
|
CA3195725 rs780207562 |
301 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3195760 rs781093877 |
303 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs756111796 CA3195762 |
304 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs112125408 CA3195764 |
307 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195763 rs777788391 |
307 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs770624642 CA3195765 |
308 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3195766 rs778560380 |
308 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA359157780 rs1225399282 |
309 | P>T | No |
ClinGen gnomAD |
|
|
CA3195767 rs745556018 |
310 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA359157786 rs1293089122 |
310 | G>R | No |
ClinGen gnomAD |
|
|
rs771599060 CA113806479 |
312 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195768 rs771599060 |
312 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770336060 CA359157818 |
314 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195772 rs773646971 |
315 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3195773 rs763433943 |
316 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766488995 CA3195774 |
317 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA359157838 rs375421492 |
318 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359157842 rs1417372870 |
319 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1027111731 CA113806499 |
319 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199762141 CA3195776 |
320 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359157878 rs1446857825 |
324 | V>I | No |
ClinGen gnomAD |
|
|
rs1216126515 CA359157924 |
330 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3195779 rs755809077 |
331 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359157928 rs755809077 |
331 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359157937 rs10064631 |
333 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3195782 rs10064631 |
333 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484312888 CA359157948 |
334 | E>D | No |
ClinGen TOPMed |
|
|
CA359157958 rs1057521495 |
336 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA16604983 RCV000441913 rs1057521495 |
336 | K>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs745313688 CA3195784 |
337 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3195785 rs771787194 |
339 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1183944927 CA359157987 |
340 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs770198095 CA3195788 |
344 | K>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3195790 rs763503458 |
349 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3195793 rs757997490 |
352 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192521826 CA359158089 |
353 | G>E | No |
ClinGen gnomAD |
|
|
rs910365775 CA113806587 |
353 | G>R | No |
ClinGen Ensembl |
|
|
rs535518700 CA113807150 |
354 | A>D | No |
ClinGen Ensembl |
|
|
rs775609322 CA3195813 |
354 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375332745 CA3195814 |
355 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA113807156 rs375332745 |
355 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764360570 CA3195815 |
357 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3195816 rs776598893 |
358 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761632409 CA3195817 |
359 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405292334 CA359158119 |
359 | H>Y | No |
ClinGen gnomAD |
|
|
CA359158125 rs1367567348 |
360 | I>V | No |
ClinGen gnomAD |
|
|
rs1277860671 CA359158137 |
362 | A>T | No |
ClinGen gnomAD |
|
|
CA3195818 rs765276021 COSM3393677 |
362 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758349872 CA3195820 |
363 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1270557531 CA359158142 |
363 | G>R | No |
ClinGen gnomAD |
|
|
CA359158152 rs1208011938 |
364 | C>F | No |
ClinGen gnomAD |
|
|
CA359158158 rs1293804430 |
365 | S>Y | No |
ClinGen gnomAD |
|
|
rs1579732478 CA359158163 |
366 | L>F | No |
ClinGen Ensembl |
|
|
CA113807184 rs111605830 |
367 | Q>R | No |
ClinGen Ensembl |
|
|
rs765844770 CA3195821 |
369 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429920725 CA359158209 |
372 | W>C | No |
ClinGen gnomAD |
|
|
rs1011595580 CA113807191 |
372 | W>R | No |
ClinGen TOPMed |
|
|
rs751034628 CA3195822 |
373 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs751034628 CA359158210 |
373 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA359158213 rs1374004546 |
373 | C>Y | No |
ClinGen gnomAD |
|
|
CA3195824 rs772547714 |
375 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359158225 rs1235454495 |
375 | E>G | No |
ClinGen TOPMed |
|
|
CA3195825 rs772547714 |
375 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382796636 CA359158233 |
376 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3195826 rs757677988 |
376 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA113807219 rs147960130 |
377 | R>* | No |
ClinGen ESP TOPMed |
|
|
rs559714440 CA3195827 |
377 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359158239 rs1393029352 |
378 | A>T | No |
ClinGen TOPMed |
|
|
rs1243456483 CA359158247 |
379 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359158253 rs1360048756 |
380 | P>L | No |
ClinGen gnomAD |
|
|
rs886060806 CA359158250 |
380 | P>S | No |
ClinGen gnomAD |
|
|
CA359158255 rs1352383887 |
381 | K>E | No |
ClinGen TOPMed |
|
|
rs1421007019 CA359158303 |
386 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3195854 rs368943570 |
386 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3195855 rs770791399 |
388 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1037417932 CA113809001 |
390 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1406568412 CA359158334 |
391 | Y>C | No |
ClinGen gnomAD |
|
|
CA3195857 rs759466209 |
392 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA359158345 rs1240870498 |
393 | S>G | No |
ClinGen TOPMed |
|
|
rs752183695 CA3195859 |
395 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs760268961 CA3195860 |
395 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs531325011 CA3195862 |
399 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3195863 rs374979929 |
399 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3195864 rs374979929 |
399 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263334440 CA359158390 |
400 | R>G | No |
ClinGen gnomAD |
|
|
CA113809027 rs201819933 |
402 | Q>* | No |
ClinGen Ensembl |
|
|
CA359158449 rs1292929074 |
408 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1243405 CA359158460 rs1579758447 |
410 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1178212573 CA359158472 COSM245800 |
412 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1166012101 CA359158484 |
413 | Y>C | No |
ClinGen TOPMed |
|
|
CA359158480 rs1268284059 |
413 | Y>H | No |
ClinGen gnomAD |
|
|
CA359158489 rs1426061156 |
414 | S>G | No |
ClinGen TOPMed |
|
|
rs748202026 CA3195867 |
415 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748202026 CA359158499 |
415 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA113809056 rs886060807 |
416 | F>L | No |
ClinGen TOPMed |
|
|
rs769915505 CA113809050 |
416 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749461781 CA359158512 |
418 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770826753 CA3195871 |
419 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA359158532 rs1283581615 |
421 | C>* | No |
ClinGen gnomAD |
|
|
rs759521220 CA3195873 |
421 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3195874 rs771949830 |
422 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1339430227 CA359158536 |
422 | A>S | No |
ClinGen gnomAD |
|
|
rs771949830 CA359158538 |
422 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775011169 CA3195875 |
423 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs760163475 CA3195876 |
425 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3195877 rs763667405 |
427 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359158567 rs763667405 |
427 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224801855 CA359158572 |
428 | L>F | No |
ClinGen gnomAD |
|
|
CA359158584 rs564953226 |
430 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564953226 CA359158585 |
430 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3195879 rs564953226 |
430 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA359158595 rs766885971 |
431 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3195881 rs751947278 |
432 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976731910 CA113809103 |
432 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1561247517 CA359158631 |
437 | P>S | No |
ClinGen Ensembl |
|
|
CA3195884 rs752734980 |
439 | S>G | No |
ClinGen ExAC |
|
|
rs1303223912 CA359158650 |
440 | L>F | No |
ClinGen gnomAD |
|
|
CA3195886 rs777714107 |
441 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359158660 rs1428227027 |
442 | L>F | No |
ClinGen gnomAD |
|
|
rs1364559668 CA359158664 |
443 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA359158691 rs1203197024 |
444 | H>Q | No |
ClinGen gnomAD |
|
|
rs768451288 CA3195913 |
445 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA359158703 rs1440404360 |
447 | K>E | No |
ClinGen TOPMed |
|
|
CA3195914 rs776224275 |
447 | K>N | No |
ClinGen ExAC |
|
|
CA359158715 rs1240199178 |
448 | L>R | No |
ClinGen TOPMed |
|
|
rs747568149 CA359158723 |
449 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359158719 rs1462446372 |
449 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs769586426 CA3195916 |
450 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA359158738 rs1407994766 |
452 | P>Q | No |
ClinGen gnomAD |
|
|
CA3195917 rs762694475 |
453 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3195920 rs761267473 |
455 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA359158756 rs764469824 |
455 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753958946 CA3195922 |
456 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761821020 CA3195923 |
456 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270679425 CA359158798 |
460 | L>V | No |
ClinGen gnomAD |
|
|
CA3195945 rs372150634 |
464 | G>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1372892119 CA359158828 |
464 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372150634 CA359158827 |
464 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3195946 rs754790059 |
465 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375483975 CA113811739 |
465 | K>R | No |
ClinGen ESP |
|
|
rs752726008 CA3195948 |
467 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3195947 rs781040363 |
467 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1282505510 CA359158861 |
469 | V>A | No |
ClinGen TOPMed |
|
|
rs915446132 CA113811762 |
471 | N>S | No |
ClinGen TOPMed |
|
|
rs1347341588 CA359158880 |
472 | I>F | No |
ClinGen TOPMed |
|
|
CA3195949 rs756103128 |
472 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777447397 CA3195950 |
473 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1387591492 CA359158897 |
475 | F>I | No |
ClinGen gnomAD |
|
|
CA3195951 rs748768368 |
475 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA359158908 rs1324508393 |
476 | L>R | No |
ClinGen gnomAD |
|
|
rs1358640424 CA359158919 |
478 | T>I | No |
ClinGen gnomAD |
|
|
rs770622496 CA3195952 |
478 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA359158918 rs1358640424 |
478 | T>S | No |
ClinGen gnomAD |
|
|
CA359158920 rs1243592502 |
479 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA113811796 rs1013781615 |
480 | T>A | No |
ClinGen TOPMed |
|
|
CA3195953 rs778373384 |
481 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3195954 rs745518958 |
482 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA359158945 rs1259186284 |
483 | V>F | No |
ClinGen gnomAD |
|
|
CA3195955 rs146475928 |
485 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1021117864 CA113811813 |
485 | R>W | No |
ClinGen Ensembl |
|
|
rs1195759319 CA359158969 |
487 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs777022518 CA3195956 |
488 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770232997 CA3195957 |
489 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs148284479 CA359158991 |
491 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA113811847 rs113034220 |
494 | A>V | No |
ClinGen Ensembl |
|
|
rs1040395177 CA113811851 |
498 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766470905 CA3195960 |
500 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774507224 CA3195961 |
505 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs201376855 CA3195962 |
505 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359159078 rs1579792872 |
505 | I>T | No |
ClinGen Ensembl |
|
|
CA113811872 rs572087295 |
506 | H>L | No |
ClinGen gnomAD |
|
|
CA113811863 rs572087295 |
506 | H>R | No |
ClinGen gnomAD |
|
|
rs752491169 CA3195964 |
507 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs923228298 CA113811876 |
509 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359159109 rs1450089061 |
510 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA359159119 rs1269324233 |
511 | D>E | No |
ClinGen TOPMed |
|
|
CA3195965 rs150411351 |
513 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753414263 CA3195966 |
513 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1025977780 CA113811882 |
514 | K>R | No |
ClinGen TOPMed |
|
|
CA3195969 rs149581788 |
517 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359159150 rs149581788 |
517 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758047403 CA3195970 |
518 | P>S | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs866461420 CA113811958 |
519 | K>E | No |
ClinGen Ensembl |
|
|
rs202141889 CA113811968 |
519 | K>N | No |
ClinGen Ensembl |
|
|
rs763970135 CA3195984 |
520 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3195985 rs753890281 |
521 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs374903302 CA3195987 |
522 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359159202 rs1409884223 |
524 | P>S | No |
ClinGen gnomAD |
|
|
CA359159209 rs1343250131 |
525 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA359159208 rs1343250131 |
525 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM1070442 CA359159207 rs1343250131 |
525 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs758018238 CA3195989 |
526 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3195990 rs375420169 |
528 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs543608145 CA359159223 |
528 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3195991 COSM1070443 rs543608145 |
528 | N>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs926136845 CA113814308 |
530 | F>S | No |
ClinGen TOPMed |
|
|
CA3195993 rs767321681 |
531 | H>Y | No |
ClinGen ExAC |
|
|
CA113814378 rs866155335 |
533 | P>L | No |
ClinGen Ensembl |
|
|
CA3195996 rs771421325 |
533 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778894593 CA3195997 |
535 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3196001 rs775914890 |
539 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772440734 CA3196000 |
539 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359159292 rs772440734 |
539 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196002 rs752471011 |
541 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA113814394 rs752471011 |
541 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196003 rs768608989 |
542 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359159312 rs1561282066 |
542 | M>R | No |
ClinGen Ensembl |
|
|
rs776462257 CA113814429 |
543 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196004 rs776462257 |
543 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196005 rs761674695 |
544 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA113814458 rs867429250 |
548 | G>D | No |
ClinGen Ensembl |
|
|
CA359159365 rs1293710305 |
551 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776490741 CA3196006 |
552 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196008 rs765859795 |
557 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196009 rs115297357 |
558 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754603638 CA3196010 |
559 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA359159442 rs1416953395 |
561 | K>R | No |
ClinGen gnomAD |
|
|
CA359159458 rs1160859814 |
563 | Q>H | No |
ClinGen gnomAD |
|
|
rs1391339546 CA359159460 |
564 | E>K | No |
ClinGen gnomAD |
|
|
CA359159468 rs1458075785 |
565 | Q>K | No |
ClinGen gnomAD |
|
|
rs1336717002 CA359159495 |
568 | D>V | No |
ClinGen gnomAD |
|
|
rs1338601522 CA359159530 |
573 | A>G | No |
ClinGen TOPMed |
|
|
rs143217598 CA113815472 |
574 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA3196043 rs781416288 |
574 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs941318399 CA113815473 |
575 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359159540 rs941318399 |
575 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771123203 CA3196044 |
576 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359159570 rs1487911748 |
579 | G>R | No |
ClinGen gnomAD |
|
|
CA359159575 rs1402612371 |
580 | C>S | No |
ClinGen TOPMed |
|
|
rs1290409729 CA359159578 |
580 | C>Y | No |
ClinGen gnomAD |
|
|
CA3196046 rs769695416 |
581 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA113815495 rs949973580 |
582 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs772862967 CA3196047 |
582 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473313954 CA359159603 |
584 | D>N | No |
ClinGen TOPMed |
|
|
rs749248453 CA3196048 |
585 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs148424643 CA3196049 |
586 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3196050 rs773855624 |
587 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs368741550 CA3196070 |
591 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359159665 rs1406055321 |
591 | K>R | No |
ClinGen gnomAD |
|
|
CA3196073 rs146415045 |
593 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3196072 rs146415045 |
593 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766836800 CA3196074 |
595 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752176401 CA3196075 |
596 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3196080 rs777801608 |
599 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA359159716 rs777801608 |
599 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3196079 rs756363513 |
599 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359159726 rs1241817740 |
601 | I>L | No |
ClinGen gnomAD |
|
|
CA359159744 rs1191005367 |
603 | T>I | No |
ClinGen gnomAD |
|
|
CA359159745 rs1288365278 |
604 | H>Y | No |
ClinGen TOPMed |
|
|
rs765296721 CA3196082 |
605 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA113815817 rs981325394 |
609 | F>I | No |
ClinGen TOPMed |
|
|
CA3196084 rs778650591 |
610 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196085 rs745857319 |
612 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs771852321 CA3196086 |
613 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359159817 rs1318949494 |
615 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371312103 CA3196087 |
616 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359159825 rs1381471922 |
617 | E>K | No |
ClinGen gnomAD |
|
|
rs1241964702 CA359159831 |
618 | E>K | No |
ClinGen gnomAD |
|
|
rs201802094 CA3196090 |
625 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62342555 CA113815917 |
626 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs62342555 CA3196092 |
626 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs779754195 CA113815938 |
627 | D>V | No |
ClinGen Ensembl |
|
|
rs144020429 CA3196093 |
628 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1444159491 CA359159910 |
629 | I>T | No |
ClinGen gnomAD |
|
|
rs1473262246 CA359159931 |
632 | H>R | No |
ClinGen gnomAD |
|
|
rs1294838883 CA359159938 |
633 | G>D | No |
ClinGen TOPMed |
|
|
rs1305705594 CA359159937 |
633 | G>S | No |
ClinGen TOPMed |
|
|
rs764159535 CA3196097 |
637 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196096 rs760727881 |
637 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3196098 COSM1070446 rs764159535 |
637 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1404592166 CA359159978 |
639 | I>S | No |
ClinGen TOPMed |
|
|
rs1404592166 CA359159977 |
639 | I>T | No |
ClinGen TOPMed |
|
|
rs1394147915 CA359159982 |
640 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1300272351 CA359159988 |
641 | L>F | No |
ClinGen TOPMed |
|
|
rs1314261918 CA359159990 |
641 | L>P | No |
ClinGen gnomAD |
|
|
rs750142938 CA3196101 |
643 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374659219 CA3196103 |
644 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79732271 CA3196102 |
644 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs141002013 CA3196105 |
645 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210965189 CA359160019 |
646 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3196106 rs780816682 |
646 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773372129 CA3196140 |
653 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA113818376 rs372481533 |
653 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA359160083 rs773372129 |
653 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562405817 CA3196142 |
655 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1272597996 CA359160100 |
656 | M>V | No |
ClinGen gnomAD |
|
|
rs1211893957 CA359160120 |
658 | K>N | No |
ClinGen TOPMed |
|
|
CA3196143 rs751318676 |
659 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1468134821 CA359160124 |
659 | D>Y | No |
ClinGen TOPMed |
|
|
CA113818405 rs972091702 |
660 | V>I | No |
ClinGen gnomAD |
|
|
CA359160153 rs1220697965 |
663 | A>G | No |
ClinGen TOPMed |
|
|
rs1487416176 CA359160169 |
666 | Q>* | No |
ClinGen gnomAD |
|
|
CA3196144 rs767507060 |
666 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192702371 CA359160171 |
666 | Q>R | No |
ClinGen gnomAD |
|
|
rs1186554585 CA359160179 |
667 | I>M | No |
ClinGen gnomAD |
|
|
CA3196146 rs755752404 |
667 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359160198 rs1246446669 |
670 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359160211 rs748945898 |
672 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3196148 rs748945898 |
672 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347756756 CA359160218 |
673 | G>V | No |
ClinGen gnomAD |
|
|
rs775031794 CA3196150 |
674 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359160250 rs1368681639 |
678 | E>G | No |
ClinGen gnomAD |
|
|
rs769163205 CA3196152 |
679 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA113818446 rs949933614 |
680 | M>V | No |
ClinGen Ensembl |
|
|
rs1296002312 CA359160279 |
682 | T>I | No |
ClinGen gnomAD |
|
|
CA113818450 rs760291661 |
682 | T>S | No |
ClinGen TOPMed |
|
|
CA3196154 rs748646666 |
685 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1045957554 CA113818455 |
686 | L>F | No |
ClinGen Ensembl |
|
|
rs865805258 COSM1258056 CA113818456 |
688 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA359160335 rs1320146714 |
691 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359160337 rs1320146714 |
691 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA359160348 rs1251352899 |
693 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3196156 rs763104140 |
695 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766581986 COSM179990 CA3196157 |
696 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
No associated diseases with Q9UBK8
Functions
| Description | ||
|---|---|---|
| EC Number | 1.16.1.8 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| [methionine synthase] reductase activity | Catalysis of the reaction: -cob(II)alamin + NADPH + H+ + S-adenosyl methionine = -methylcob(I)alamin + S-adenosylhomocysteine + NADP+. |
| FAD binding | Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
| FMN binding | Binding to flavin mono nucleotide. Flavin mono nucleotide (FMN) is the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| NADPH binding | Binding to the reduced form, NADPH, of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions. |
| NADPH-hemoprotein reductase activity | Catalysis of the reaction: NADPH + H+ + n oxidized hemoprotein = NADP+ + n reduced hemoprotein. |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
| oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor | Catalysis of an oxidation-reduction in which the metal ion is reduced and NAD+ or NADP+ acts as an electron acceptor. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA methylation | The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine. |
| folic acid metabolic process | The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| homocysteine catabolic process | The chemical reactions and pathways resulting in the breakdown of homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. |
| homocysteine metabolic process | The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. |
| methionine biosynthetic process | The chemical reactions and pathways resulting in the formation of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. |
| negative regulation of cystathionine beta-synthase activity | Any process that stops, prevents or reduces the frequency, rate or extent of cystathionine beta-synthase activity. |
| S-adenosylmethionine cycle | A cyclic series of interconversions involving S-adenosylmethionine, S-adenosyl-L-homocysteine, L-cysteine, and L-methionine. Couples utilization of the methyl group of SAM with recycling of the homocysteinyl group and regeneration of methionine. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P29473 | NOS3 | Nitric oxide synthase, endothelial | Bos taurus (Bovine) | EV |
| Q1JPJ0 | NDOR1 | NADPH-dependent diflavin oxidoreductase 1 | Bos taurus (Bovine) | PR |
| Q9UHB4 | NDOR1 | NADPH-dependent diflavin oxidoreductase 1 | Homo sapiens (Human) | PR |
| P29474 | NOS3 | Nitric oxide synthase, endothelial | Homo sapiens (Human) | SS |
| P29475 | NOS1 | Nitric oxide synthase, brain | Homo sapiens (Human) | SS |
| P70313 | Nos3 | Nitric oxide synthase 3 | Mus musculus (Mouse) | SS |
| A2AI05 | Ndor1 | NADPH-dependent diflavin oxidoreductase 1 | Mus musculus (Mouse) | PR |
| Q8C1A3 | Mtrr | Methionine synthase reductase | Mus musculus (Mouse) | PR |
| Q28969 | NOS3 | Nitric oxide synthase 3 | Sus scrofa (Pig) | SS |
| Q62600 | Nos3 | Nitric oxide synthase 3 | Rattus norvegicus (Rat) | SS |
| P29476 | Nos1 | Nitric oxide synthase, brain | Rattus norvegicus (Rat) | SS |
| Q498R1 | Mtrr | Methionine synthase reductase | Rattus norvegicus (Rat) | PR |
| Q9FKW6 | LFNR1 | Ferredoxin--NADP reductase, leaf isozyme 1, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRFLLLYAT | QQGQAKAIAE | EICEQAVVHG | FSADLHCISE | SDKYDLKTET | APLVVVVSTT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GTGDPPDTAR | KFVKEIQNQT | LPVDFFAHLR | YGLLGLGDSE | YTYFCNGGKI | IDKRLQELGA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RHFYDTGHAD | DCVGLELVVE | PWIAGLWPAL | RKHFRSSRGQ | EEISGALPVA | SPASSRTDLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KSELLHIESQ | VELLRFDDSG | RKDSEVLKQN | AVNSNQSNVV | IEDFESSLTR | SVPPLSQASL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NIPGLPPEYL | QVHLQESLGQ | EESQVSVTSA | DPVFQVPISK | AVQLTTNDAI | KTTLLVELDI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SNTDFSYQPG | DAFSVICPNS | DSEVQSLLQR | LQLEDKREHC | VLLKIKADTK | KKGATLPQHI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PAGCSLQFIF | TWCLEIRAIP | KKAFLRALVD | YTSDSAEKRR | LQELCSKQGA | ADYSRFVRDA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CACLLDLLLA | FPSCQPPLSL | LLEHLPKLQP | RPYSCASSSL | FHPGKLHFVF | NIVEFLSTAT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TEVLRKGVCT | GWLALLVASV | LQPNIHASHE | DSGKALAPKI | SISPRTTNSF | HLPDDPSIPI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IMVGPGTGIA | PFIGFLQHRE | KLQEQHPDGN | FGAMWLFFGC | RHKDRDYLFR | KELRHFLKHG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ILTHLKVSFS | RDAPVGEEEA | PAKYVQDNIQ | LHGQQVARIL | LQENGHIYVC | GDAKNMAKDV |
| 670 | 680 | 690 | |||
| HDALVQIISK | EVGVEKLEAM | KTLATLKEEK | RYLQDIWS |