Q9NZB8
PR
Gene name |
MOCS1 (MIG11) |
Protein name |
Molybdenum cofactor biosynthesis protein 1 |
Names |
Cell migration-inducing gene 11 protein, Molybdenum cofactor synthesis-step 1 protein A-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4337 |
EC number |
4.1.99.22: Other carbon-carbon lyases |
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
1 structures for Q9NZB8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NZB8-F1 | Predicted | AlphaFoldDB |
601 variants for Q9NZB8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000522037 RCV001853659 rs567333444 |
1 | M>L | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3796511 RCV001312278 rs533996841 |
2 | A>E | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001304418 CA3796513 rs553972916 |
2 | A>T | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs760690355 CA3796509 RCV001345484 RCV003169673 |
4 | R>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001348245 RCV002545587 rs1278428185 CA364030788 |
5 | P>S | Inborn genetic diseases Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001244655 rs749631517 CA364030547 |
26 | P>L | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001339853 CA3796502 rs202233034 |
28 | T>S | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs532400782 RCV001252078 CA3796497 RCV003106165 |
38 | A>P | Intellectual disability Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001319816 rs752673279 CA3796430 |
46 | R>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313447 rs777830465 CA3796431 |
46 | R>W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754387991 CA10626666 RCV000285478 |
51 | R>L | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3796425 RCV000701777 rs766904353 |
52 | E>D | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10623868 RCV000379955 rs770756364 |
59 | A>S | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770756364 RCV001339193 CA3796416 |
59 | A>T | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs542659659 CA3796415 RCV001342460 |
59 | A>V | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001363832 RCV000762410 rs766961404 RCV002536587 CA3796408 |
67 | R>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754441164 CA3796409 VAR_054823 |
67 | R>W | MOCODA [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs104893970 CA117958 RCV000006495 VAR_015658 |
73 | R>W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCODA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA3796403 rs151141411 VAR_054824 |
80 | C>G | MOCODA [UniProt] | Yes |
ClinGen UniProt ESP ExAC dbSNP gnomAD |
| VAR_054825 | 84 | C>F | MOCODA [UniProt] | Yes | UniProt |
|
rs144238782 RCV000498654 RCV000316093 CA3796363 |
88 | M>I | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147580725 RCV001351653 CA3796359 |
90 | E>K | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373489919 RCV001338077 CA3796352 |
98 | K>N | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341225 CA3796342 rs200517455 COSM1079076 |
111 | A>T | large_intestine endometrium Variant assessed as Somatic; 4.621e-05 impact. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3796341 RCV001308726 rs757431407 |
112 | R>W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368420298 RCV000373743 CA3796333 |
120 | D>H | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1079074 rs368420298 RCV001319847 CA3796331 |
120 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_054826 CA3796327 RCV001346725 rs779592342 |
123 | R>W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCODA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_015659 RCV000853356 rs372246702 CA3796323 RCV001528779 |
126 | G>D | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCODA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
| VAR_015660 | 127 | G>D | MOCODA [UniProt] | Yes | UniProt |
|
RCV002543662 CA364044684 RCV001315050 rs1321268099 |
127 | G>R | Inborn genetic diseases Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3796317 RCV001154614 rs377167949 RCV000998597 |
132 | R>W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1697195 CA3796315 rs139431867 RCV001233968 |
133 | P>L | skin Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3796312 RCV001340603 rs772515216 |
138 | I>V | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3796281 rs368942024 RCV000319610 RCV001508184 |
141 | Q>E | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001253962 CA3796278 rs138822116 |
144 | R>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001252077 RCV001347207 rs767641674 RCV001726469 CA3796279 |
144 | R>W | Intellectual disability Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002550723 RCV000998596 CA364044562 rs1582817556 |
147 | G>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002274163 rs116035280 CA3796270 RCV001253961 |
152 | G>D | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001302596 rs374575232 CA3796262 |
162 | R>L | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3796261 RCV001252079 RCV001879842 rs374575232 |
162 | R>Q | Intellectual disability Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3796257 rs61732596 RCV000955358 |
173 | S>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1767645451 RCV001294360 |
173 | S>T | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143573353 RCV002524477 RCV000313707 CA3796256 RCV000998595 |
174 | A>T | Inborn genetic diseases Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001235403 rs1767642521 |
182 | L>M | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1767641412 RCV001351778 |
186 | K>N | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3796227 rs186335243 RCV001321967 |
201 | E>G | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001305174 CA364044184 rs1468443174 |
205 | K>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001211282 rs1767492682 |
206 | A>T | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351483 CA364044149 rs1242005289 |
211 | Y>C | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001324420 CA3796220 rs369792221 |
211 | Y>H | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA137651900 RCV000818502 rs887485143 |
215 | K>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002546100 RCV001323187 rs201334190 CA3796191 |
216 | V>M | Inborn genetic diseases Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001692028 RCV000393365 CA3796178 rs35825585 |
233 | A>V | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002559509 rs201036100 RCV001157019 CA3796177 |
236 | T>I | Inborn genetic diseases Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs7762875 RCV001692027 RCV000339680 CA3796174 |
239 | L>H | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040457 CA3796173 rs753336008 |
240 | P>L | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000006491 rs397518418 |
241 | L>missing | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1767453228 RCV001337224 |
241 | L>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763792241 CA3796147 RCV001345185 |
259 | K>N | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
CA3796142 RCV000794922 rs146944225 RCV002535914 |
272 | R>W | Inborn genetic diseases Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001294574 rs1767422241 |
277 | E>K | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415797 RCV000714706 RCV001252317 RCV002518405 RCV000190510 CA053174 RCV001354513 rs140243105 |
285 | E>K | Intellectual disability Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001342459 rs140243105 CA3796137 |
285 | E>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1767419049 RCV001155335 |
290 | K>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370710723 RCV001350693 CA3796109 |
313 | G>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs104893969 RCV000006493 VAR_015661 CA117955 |
319 | R>Q | Variant assessed as Somatic; 0.0 impact. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MOCODA [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_015662 rs1187685038 CA364042939 |
324 | G>E | Variant assessed as Somatic; 0.0 impact. MOCODA [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
VAR_054827 rs762253951 CA3796104 |
324 | G>R | MOCODA [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1767224356 RCV001039635 |
334 | S>missing | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3796074 rs142478972 RCV000798315 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs148579886 RCV002518406 RCV000416188 RCV001252080 RCV000190510 RCV001354730 CA053157 RCV000987692 |
339 | R>W | Intellectual disability Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3796071 rs781187745 RCV000373399 |
343 | R>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003222073 CA3796063 rs143912353 RCV000642134 |
355 | I>T | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1767214486 RCV001336890 |
362 | K>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3796057 rs372068922 RCV001154514 |
366 | H>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001508183 RCV001060714 rs200072824 CA3796026 |
369 | M>K | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA364041835 rs1562085332 RCV000721979 |
376 | K>* | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs149586823 CA3796019 RCV001154513 |
378 | R>G | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751603831 CA137648082 RCV000642133 COSM1187026 |
384 | E>K | lung Variant assessed as Somatic; impact. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3795997 RCV000337333 VAR_056131 rs11969769 |
390 | P>H | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs570962724 CA3795984 RCV000282363 |
404 | P>L | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001154512 rs1767003395 |
409 | G>D | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886061389 CA10626635 RCV000331664 |
428 | R>G | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs41273142 RCV000276680 CA3795969 |
439 | R>Q | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001154511 rs772101270 CA3795970 |
439 | R>W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_061346 CA3795961 RCV001539189 RCV000389781 rs11969206 |
452 | R>L | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000325932 CA3795959 rs143730711 |
456 | D>V | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV001151490 rs780148535 CA3795955 |
467 | W>* | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000987691 CA3795941 rs201889779 |
490 | R>W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000006492 rs397518419 |
503 | E>missing | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886061388 CA10626633 RCV000364460 |
543 | A>E | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3795912 RCV002523568 RCV000309763 rs777476892 |
563 | Q>E | Combined molybdoflavoprotein enzyme deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001156917 rs574721812 CA3795910 |
572 | R>C | Variant assessed as Somatic; 0.0 impact. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000265070 CA3795909 rs41273140 |
572 | R>H | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753497618 RCV001250047 CA3795880 |
608 | C>R | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs533996841 CA3796512 |
2 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299943727 CA364030803 |
3 | A>G | No |
ClinGen gnomAD |
|
|
rs371890945 CA364030809 |
3 | A>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371890945 CA137623412 |
3 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371890945 CA364030808 |
3 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364030802 rs1299943727 |
3 | A>V | No |
ClinGen gnomAD |
|
|
rs766581554 CA3796510 |
4 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA137623404 rs1017549561 |
6 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1017549561 CA364030777 |
6 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1026747618 CA137623390 |
8 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364030760 rs773214986 |
8 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3796508 rs773214986 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137623386 rs1026747618 |
8 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1173913012 CA364030745 CA364030742 |
9 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1001704402 CA137623365 |
9 | M>V | No |
ClinGen gnomAD |
|
|
rs1425959654 CA364030718 |
12 | R>W | No |
ClinGen gnomAD |
|
|
CA364030658 rs1167904501 |
17 | S>N | No |
ClinGen TOPMed |
|
|
rs1261423504 CA364030656 |
17 | S>R | No |
ClinGen gnomAD |
|
|
CA364030650 rs1183996280 |
18 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA364030649 rs1183996280 |
18 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748720371 CA3796506 |
19 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3796507 rs762916986 |
19 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208715055 CA364030620 |
20 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3796505 rs571518668 |
21 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364030570 rs1258146894 |
24 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1258146894 CA364030568 |
24 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 24 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364030572 rs1258146894 |
24 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3796504 rs769056944 |
25 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA364030566 rs769056944 |
25 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749631517 CA3796503 |
26 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364030552 rs1315704414 |
26 | P>S | No |
ClinGen gnomAD |
|
|
rs1230777735 CA364030486 |
31 | C>* | No |
ClinGen TOPMed |
|
|
rs1343133975 CA364030488 |
31 | C>S | No |
ClinGen TOPMed |
|
|
rs1444302015 CA364030456 |
34 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA364030431 rs1421717640 |
36 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1167234629 CA364030422 |
36 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs532400782 CA364030408 |
38 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3796496 rs376634301 |
39 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3796495 rs754757418 |
40 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364030385 rs754757418 |
40 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364045198 rs1164317532 |
43 | V>A | No |
ClinGen TOPMed |
|
|
rs747305781 CA3796432 |
45 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3796429 rs752673279 |
46 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754387991 CA3796426 |
51 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3796427 rs754387991 COSM1643070 |
51 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3796428 rs571898718 |
51 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364045141 rs1333998311 |
53 | H>R | No |
ClinGen gnomAD |
|
|
rs374766990 CA3796423 |
54 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3796421 rs762546266 |
55 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364045131 rs762546266 |
55 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045854458 CA137655369 |
55 | A>V | No |
ClinGen TOPMed |
|
|
CA3796419 rs769291978 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA364045112 rs1442591319 |
58 | S>C | No |
ClinGen gnomAD |
|
|
rs1407797725 CA364045102 |
60 | F>S | No |
ClinGen gnomAD |
|
|
CA3796414 rs758495158 |
63 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364045082 rs1369644047 |
63 | D>G | No |
ClinGen gnomAD |
|
|
CA3796412 rs748261867 |
64 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs150364145 CA364045063 |
66 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364045064 rs150364145 |
66 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3796410 rs150364145 |
66 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375423198 CA364045046 |
69 | H>Y | No |
ClinGen gnomAD |
|
|
rs528968143 CA3796407 |
70 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA137655353 rs757729598 |
73 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1169005650 CA364045012 |
74 | I>N | No |
ClinGen TOPMed |
|
|
rs1322537826 CA364045007 |
75 | S>Y | No |
ClinGen gnomAD |
|
|
CA3796406 rs763820136 |
76 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1372110522 CA364044985 |
79 | K>E | No |
ClinGen TOPMed |
|
|
CA364044978 rs1412619494 |
79 | K>N | No |
ClinGen TOPMed |
|
|
CA364044975 rs1419035631 |
80 | C>Y | No |
ClinGen gnomAD |
|
|
rs560292362 CA3796402 |
81 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776585155 CA3796401 |
82 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137655347 rs935994999 |
84 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1768262580 RCV001169946 |
85 | Q>* | No |
ClinVar dbSNP |
|
|
CA364044927 rs1582833626 |
85 | Q>H | No |
ClinGen Ensembl |
|
|
CA137655041 rs910326375 |
86 | Y>C | No |
ClinGen TOPMed |
|
|
rs765861024 CA3796365 |
86 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1188343837 CA364044916 |
87 | C>S | No |
ClinGen TOPMed |
|
|
rs1483879853 CA364044907 |
88 | M>R | No |
ClinGen gnomAD |
|
|
rs755626325 CA3796364 |
88 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs767448332 CA3796362 |
89 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs147580725 CA3796360 |
90 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763325770 CA3796358 |
91 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA364044878 rs1314629193 |
93 | V>F | No |
ClinGen gnomAD |
|
|
CA364044880 COSM2152713 rs1314629193 |
93 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs769807132 CA137655032 |
94 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3796356 rs769807132 |
94 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364044870 rs1334655851 |
95 | L>M | No |
ClinGen gnomAD |
|
|
rs1562100201 CA364044862 |
96 | T>I | No |
ClinGen Ensembl |
|
|
rs368863685 CA137655028 |
97 | P>L | No |
ClinGen Ensembl |
|
|
rs1432733346 CA364044849 |
98 | K>I | No |
ClinGen TOPMed |
|
|
rs1353075341 CA364044831 |
101 | L>Q | No |
ClinGen gnomAD |
|
|
CA3796349 rs148758749 |
107 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200517455 CA3796343 |
111 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs751538238 CA3796340 |
112 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764031173 CA3796339 |
113 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs372613479 CA3796336 |
115 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3796335 rs759551454 |
118 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs150060706 CA137655010 |
118 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1391004276 CA364044722 |
119 | I>S | No |
ClinGen gnomAD |
|
|
rs1409828110 CA364044717 |
120 | D>E | No |
ClinGen TOPMed |
|
|
rs773683592 CA3796330 |
120 | D>G | No |
ClinGen ExAC |
|
|
CA3796329 rs376643760 |
121 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748469120 CA3796328 |
122 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs567945725 CA3796326 |
123 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs745373932 CA3796325 |
125 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780821607 CA3796324 |
126 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs372246702 CA364044685 |
126 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3796322 rs751588004 |
128 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777815200 CA3796321 |
129 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777815200 CA364044667 |
129 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3796318 rs528340821 |
131 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528340821 CA3796319 |
131 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348056026 CA364044656 |
131 | I>M | No |
ClinGen TOPMed |
|
|
CA137654996 rs887802302 |
132 | R>Q | No |
ClinGen TOPMed |
|
|
rs139431867 CA364044649 |
133 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764043788 CA3796316 |
133 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364044640 rs1345203104 |
135 | V>M | No |
ClinGen gnomAD |
|
|
CA3796310 rs774709179 |
138 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3796311 rs370522920 |
138 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs768898577 CA3796309 |
139 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs548898048 CA3796283 |
140 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3796282 rs548898048 |
140 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137652795 rs368942024 |
141 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764459678 CA3796276 |
145 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3796275 rs763391905 |
146 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA364044569 rs1410194509 |
146 | E>K | No |
ClinGen gnomAD |
|
|
CA364044559 rs1165967423 |
147 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA364044557 rs1165967423 |
147 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3796273 rs765694958 |
150 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3796271 rs772980797 |
151 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3796272 rs760464651 |
151 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs116035280 CA137652769 |
152 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364044534 rs1241374898 |
152 | G>S | No |
ClinGen gnomAD |
|
|
rs116035280 CA364044531 |
152 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364044528 rs1438639763 |
153 | V>F | No |
ClinGen gnomAD |
|
|
CA3796269 rs747567976 |
156 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs774364301 CA3796268 |
156 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs560167174 CA3796266 |
158 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364044499 rs1358980834 |
158 | I>V | No |
ClinGen gnomAD |
|
|
CA137652758 rs879107687 |
159 | N>S | No |
ClinGen TOPMed |
|
|
rs1379864414 CA364044480 |
161 | A>S | No |
ClinGen gnomAD |
|
|
rs755888198 CA3796264 |
161 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3796263 rs746138504 |
162 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 167 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764669594 CA3796259 |
169 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3796258 rs758898174 |
171 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1422694549 CA364044412 |
173 | S>G | No |
ClinGen gnomAD |
|
|
rs1383420237 CA364044397 |
175 | I>T | No |
ClinGen TOPMed |
|
|
CA3796255 rs759953443 |
176 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3796254 rs533079666 |
176 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767025683 CA137652731 |
177 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364044384 rs1453620448 |
177 | I>M | No |
ClinGen gnomAD |
|
|
rs767025683 CA3796253 |
177 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364044375 rs1270064145 |
179 | L>V | No |
ClinGen gnomAD |
|
|
rs1222331720 CA364044368 |
180 | D>Y | No |
ClinGen gnomAD |
|
|
CA364044361 rs1357962362 |
181 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349402215 CA364044339 |
185 | A>T | No |
ClinGen gnomAD |
|
|
CA364044334 rs1277403704 |
185 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780263625 CA3796251 |
188 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345858176 CA364044291 |
191 | V>A | No |
ClinGen gnomAD |
|
|
rs768205504 CA3796250 |
192 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564888351 CA3796249 |
192 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364044254 rs1201393338 |
195 | G>A | No |
ClinGen gnomAD |
|
|
CA364044255 rs1201393338 |
195 | G>D | No |
ClinGen gnomAD |
|
|
rs1319671441 CA364044246 |
196 | F>L | No |
ClinGen gnomAD |
|
|
CA137651931 rs934940442 |
197 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1213874714 CA364044233 |
198 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377241570 CA3796228 |
199 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364044213 rs1285930895 |
201 | E>* | No |
ClinGen gnomAD |
|
|
RCV000352080 rs886042028 |
202 | G>missing | No |
ClinVar dbSNP |
|
|
rs373030876 CA3796225 |
204 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364044177 rs1562090649 |
206 | A>D | No |
ClinGen Ensembl |
|
|
rs772313342 CA3796224 |
207 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766223142 CA3796223 |
207 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364044163 rs554596404 |
208 | E>D | No |
ClinGen 1000Genomes TOPMed |
|
|
COSM1697193 rs568343418 CA137651906 |
208 | E>K | pancreas skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs181091882 CA3796222 |
210 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1181322474 CA364044141 |
212 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1181322474 CA364044142 |
212 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1481427018 CA364044137 |
213 | P>T | No |
ClinGen gnomAD |
|
|
CA364044124 rs1251566807 |
215 | K>E | No |
ClinGen gnomAD |
|
|
CA137651716 rs201334190 |
216 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364044078 rs1416962750 |
217 | N>T | No |
ClinGen gnomAD |
|
|
rs1157838581 CA364044082 |
217 | N>Y | No |
ClinGen gnomAD |
|
|
CA364044060 rs1431104658 |
218 | C>S | No |
ClinGen gnomAD |
|
|
CA364044030 COSM1079067 rs1266681695 |
222 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3796188 rs772989676 |
222 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1672389 rs772989676 CA3796187 |
222 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3796183 rs374808793 |
226 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774690045 CA3796184 |
226 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285479563 CA364044002 |
227 | D>N | No |
ClinGen gnomAD |
|
|
CA3796182 rs749346911 |
227 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA364043982 rs1345345783 |
229 | L>P | No |
ClinGen gnomAD |
|
|
CA364043969 rs554765057 |
231 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs35825585 CA3796179 |
233 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1238332925 CA364043933 |
237 | E>D | No |
ClinGen TOPMed |
|
|
rs747840910 CA3796176 |
237 | E>K | No |
ClinGen ExAC |
|
|
CA3796175 rs778501170 |
238 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA137651687 rs976178071 |
239 | L>F | No |
ClinGen gnomAD |
|
|
rs976178071 CA364043925 |
239 | L>V | No |
ClinGen gnomAD |
|
|
CA364043920 rs1317671927 |
240 | P>S | No |
ClinGen TOPMed |
|
|
rs201547374 CA3796170 |
243 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3796169 rs201547374 |
243 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA137651663 rs951951184 |
244 | R>C | No |
ClinGen gnomAD |
|
|
CA3796168 rs761671148 |
244 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200415658 CA3796167 |
245 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3796166 rs147564001 |
249 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253463071 CA364043853 |
250 | P>L | No |
ClinGen TOPMed |
|
|
rs1027599846 CA137651652 |
251 | F>L | No |
ClinGen Ensembl |
|
|
CA3796165 rs762956159 |
251 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364043845 rs1393549149 |
252 | D>H | No |
ClinGen gnomAD |
|
|
rs1384304146 CA364043802 |
256 | W>R | No |
ClinGen gnomAD |
|
|
CA3796148 rs572366831 |
257 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364043782 rs1338318870 |
258 | F>L | No |
ClinGen gnomAD |
|
|
CA364043775 rs1330546411 |
259 | K>M | No |
ClinGen gnomAD |
|
|
CA364043776 rs1330546411 |
259 | K>R | No |
ClinGen gnomAD |
|
|
CA3796146 rs763293088 |
260 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA137651479 rs771538761 CA364043765 |
261 | M>L | No |
ClinGen TOPMed |
|
|
CA364043754 rs1426497294 |
262 | V>A | No |
ClinGen gnomAD |
|
|
CA364043753 rs1426497294 |
262 | V>G | No |
ClinGen gnomAD |
|
|
CA364043747 rs1387122378 |
263 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752839006 CA3796145 |
264 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA364043742 rs1582811778 |
264 | Y>H | No |
ClinGen Ensembl |
|
|
CA364043735 rs1269381010 |
265 | K>Q | No |
ClinGen gnomAD |
|
|
CA137651478 rs778653012 |
267 | M>I | No |
ClinGen Ensembl |
|
|
CA3796144 rs558918716 |
268 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA137651473 rs754959708 |
269 | D>E | No |
ClinGen Ensembl |
|
|
CA364043701 rs1438695093 |
270 | T>A | No |
ClinGen gnomAD |
|
|
COSM1444419 CA3796141 rs368776652 |
272 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779576648 CA3796139 CA3796140 |
275 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA364043662 rs1293208541 |
276 | P>S | No |
ClinGen gnomAD |
|
|
rs1353723732 CA364043645 |
279 | E>K | No |
ClinGen gnomAD |
|
|
rs1353723732 CA364043644 |
279 | E>Q | No |
ClinGen gnomAD |
|
|
CA364043625 rs1582811631 |
281 | V>G | No |
ClinGen Ensembl |
|
|
CA364043389 rs1334898151 |
287 | S>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3796136 rs373722664 |
287 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1582811593 CA364043381 |
288 | T>A | No |
ClinGen Ensembl |
|
|
rs769378717 CA3796135 |
288 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745323677 CA3796134 |
289 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 291 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3796118 rs769514340 |
291 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3796117 rs549754689 |
292 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1322606523 CA364043271 |
293 | K>E | No |
ClinGen gnomAD |
|
|
CA137649834 rs1055150265 |
295 | P>R | No |
ClinGen gnomAD |
|
|
rs1388209538 CA364043236 |
296 | G>S | No |
ClinGen gnomAD |
|
|
rs1244375410 CA364043225 |
297 | F>I | No |
ClinGen gnomAD |
|
|
rs1215856050 CA364043210 |
298 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 304 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432549507 CA364043129 |
305 | T>I | No |
ClinGen TOPMed |
|
|
rs1205189497 CA364043107 |
307 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1172609934 CA364043113 |
307 | M>T | No |
ClinGen TOPMed |
|
|
rs1582810584 CA364043116 |
307 | M>V | No |
ClinGen Ensembl |
|
|
rs758233425 CA3796112 |
309 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200044309 CA137649807 |
310 | H>R | No |
ClinGen 1000Genomes |
|
|
rs747837245 CA3796111 |
311 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA364043040 rs1582810497 |
314 | T>P | No |
ClinGen Ensembl |
|
|
COSM1546335 CA137649773 rs866399151 |
317 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1079059 CA3796106 rs756158164 |
317 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364043000 rs756158164 |
317 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3796105 rs774902198 |
319 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1304465015 CA364042968 |
321 | T>I | No |
ClinGen TOPMed |
|
|
CA137649752 rs1046224341 |
322 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364042956 rs1213774977 |
323 | D>N | No |
ClinGen TOPMed |
|
|
CA364042948 rs1413170825 |
323 | D>V | No |
ClinGen gnomAD |
|
|
rs762253951 CA364042941 |
324 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364042933 rs1485532302 |
325 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3796102 rs764550342 |
327 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774513593 CA3796103 |
327 | K>T | No |
ClinGen ExAC TOPMed |
|
|
CA364042523 rs1203848684 |
328 | V>D | No |
ClinGen gnomAD |
|
|
rs771595047 CA3796078 |
329 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1347657140 CA364042500 |
330 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA364042436 rs1562086514 |
335 | E>K | No |
ClinGen Ensembl |
|
|
rs761709321 CA3796077 |
336 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774245261 CA3796076 |
337 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3796075 rs768473860 |
338 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364042343 rs746098961 |
343 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3796072 rs746098961 |
343 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs368146344 CA137648590 |
345 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752037662 CA3796069 |
345 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3796067 rs201339472 |
346 | A>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs746533600 CA3796068 |
346 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs746533600 CA364042312 |
346 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753042626 CA3796066 |
347 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3796065 rs765688575 |
348 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 353 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760299557 CA364042177 |
355 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3796064 rs760299557 |
355 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA364042150 rs1318933448 |
357 | A>S | No |
ClinGen gnomAD |
|
|
rs1318933448 CA364042153 COSM3411085 |
357 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1182751590 CA364042139 |
358 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3796060 rs774298259 |
364 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375150596 CA3796061 |
364 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139999995 CA3796059 |
365 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371595641 CA3796058 |
366 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230281020 CA364041944 |
368 | G>D | No |
ClinGen gnomAD |
|
|
rs773479762 CA3796025 |
369 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1334476885 CA364041907 |
371 | S>N | No |
ClinGen gnomAD |
|
|
CA3796023 rs748708982 |
374 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3796024 rs772252113 |
374 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1462457902 CA364041846 |
375 | M>T | No |
ClinGen gnomAD |
|
|
rs200653737 CA3796018 |
378 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1079057 rs149586823 CA3796020 |
378 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364041793 rs1188515509 |
380 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364041775 rs1184442175 |
381 | I>T | No |
ClinGen TOPMed |
|
|
rs1442149050 CA364041766 |
382 | L>F | No |
ClinGen gnomAD |
|
| rs367767625 | 383 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364041350 rs1582800508 |
384 | E>D | No |
ClinGen Ensembl |
|
|
rs1353798922 CA364041337 |
386 | F>L | No |
ClinGen gnomAD |
|
|
CA3796001 rs770122521 |
387 | L>F | No |
ClinGen ExAC |
|
|
CA3795999 rs746705036 |
388 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1031912390 CA137647471 |
388 | M>V | No |
ClinGen TOPMed |
|
|
rs999044515 CA364041295 |
389 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3795998 rs777356035 |
389 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1582800426 CA364041278 |
391 | N>I | No |
ClinGen Ensembl |
|
|
CA364041267 rs1404897954 |
392 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3795995 rs74895073 |
392 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs753694766 CA3795992 |
394 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs753694766 CA364041255 |
394 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3795993 rs753694766 |
394 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1331301428 CA364041243 |
395 | A>G | No |
ClinGen TOPMed |
|
|
rs766313537 CA3795991 |
396 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3795990 rs553333312 |
397 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs553333312 CA3795988 |
397 | P>T | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 400 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3795987 rs539506877 |
400 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767793227 CA3795986 |
401 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1197538955 CA364041176 |
402 | W>G | No |
ClinGen gnomAD |
|
|
CA3795985 rs761992010 |
403 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA364041126 rs1473465922 |
406 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775830396 CA3795981 |
408 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1562083679 CA364041084 |
410 | L>R | No |
ClinGen Ensembl |
|
|
CA3795980 rs770165466 |
412 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA364041061 rs1368188491 |
412 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3795979 rs746173424 |
420 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051841451 CA137647422 |
422 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 426 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777405686 CA3795978 |
426 | G>R | No |
ClinGen ExAC |
|
|
CA3795977 rs771777950 |
426 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA364040908 rs1366386927 |
427 | C>G | No |
ClinGen gnomAD |
|
|
rs141244074 CA3795976 |
428 | R>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA364040896 CA3795974 rs754412068 |
428 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141244074 CA3795975 |
428 | R>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA364040883 rs1157363949 |
430 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3795973 rs753842084 |
431 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1582800099 CA364040863 |
432 | T>P | No |
ClinGen Ensembl |
|
|
rs780093357 CA3795972 |
433 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780093357 CA364040853 |
433 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA364040841 rs1159214638 |
434 | P>R | No |
ClinGen TOPMed |
|
|
CA364040834 rs1476724705 |
435 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364040801 rs1188758353 |
438 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751709940 CA3795968 |
441 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751709940 CA3795967 |
441 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3795965 rs762903071 |
442 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342906697 CA364040753 |
444 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364040745 rs1582799981 |
445 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 447 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939926246 CA137647392 |
448 | H>R | No |
ClinGen TOPMed |
|
|
rs909545305 CA137647391 |
450 | T>A | No |
ClinGen TOPMed |
|
|
CA3795963 rs765663594 |
452 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3795962 rs11969206 |
452 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs915693373 CA137647388 |
453 | A>T | No |
ClinGen TOPMed |
|
|
CA364040629 rs1230128274 |
456 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs558877176 CA3795958 |
458 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377598081 CA137647381 |
459 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3795957 rs374132306 |
460 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3795956 rs748692016 |
464 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364040488 rs1382154857 |
470 | A>T | No |
ClinGen TOPMed |
|
|
rs1240016226 CA364040477 |
471 | A>T | No |
ClinGen gnomAD |
|
|
CA137647371 rs960220783 |
471 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781182965 CA3795951 |
472 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364040465 rs1207799425 |
472 | P>S | No |
ClinGen gnomAD |
|
|
CA364040450 rs1275332879 |
474 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 475 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3795950 rs756972656 |
475 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs764163325 CA3795948 |
476 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA137647355 rs977655368 |
477 | L>P | No |
ClinGen TOPMed |
|
|
CA364040410 rs1230266280 |
478 | T>N | No |
ClinGen gnomAD |
|
|
CA364040387 rs1380301156 |
480 | E>D | No |
ClinGen gnomAD |
|
|
CA364040383 rs1328911882 |
481 | Q>K | No |
ClinGen TOPMed |
|
|
rs968959229 CA137647354 |
482 | L>V | No |
ClinGen TOPMed |
|
|
CA137647350 rs867356341 |
483 | T>A | No |
ClinGen Ensembl |
|
|
CA3795947 rs758508041 |
483 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA364040340 rs1582799672 |
485 | V>L | No |
ClinGen Ensembl |
|
|
rs137901915 CA3795944 |
487 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777088258 CA3795942 |
489 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3795939 rs774068685 |
490 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3795940 rs774068685 |
490 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364040272 rs1324082480 |
492 | A>T | No |
ClinGen gnomAD |
|
|
rs370984670 CA137647313 |
492 | A>V | No |
ClinGen Ensembl |
|
|
CA364040223 rs1582799613 |
496 | V>G | No |
ClinGen Ensembl |
|
|
CA364040201 rs1473487482 |
499 | K>E | No |
ClinGen gnomAD |
|
|
rs552160161 CA137647307 |
501 | D>E | No |
ClinGen 1000Genomes |
|
|
rs1204369441 CA364040179 |
501 | D>N | No |
ClinGen gnomAD |
|
|
rs1318848988 CA364039811 |
503 | E>G | No |
ClinGen TOPMed |
|
|
CA3795936 rs775200963 |
503 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1030445767 CA364039798 |
504 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA137647296 rs1030445767 |
504 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3795935 rs1387934803 |
504 | R>W | No |
ClinGen gnomAD |
|
|
COSM368933 rs769407899 CA3795934 |
506 | A>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1215335 CA364039761 rs1226962179 |
508 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA364039753 rs1352727026 |
509 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3795931 rs757098805 |
511 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 513 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3795930 rs111345256 |
515 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148846409 CA3795928 |
516 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3795929 rs777618260 |
516 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA364039678 rs1465823749 |
518 | A>V | No |
ClinGen TOPMed |
|
|
CA137647275 rs868468422 |
519 | F>I | No |
ClinGen Ensembl |
|
|
rs1450003502 CA364039662 |
520 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364039629 rs145526940 |
524 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA137647269 rs145526940 |
524 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364039562 rs1412471269 |
530 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs901020970 CA137647262 |
532 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1269437532 CA364039536 |
533 | L>V | No |
ClinGen gnomAD |
|
|
rs755006992 CA3795925 |
534 | V>M | No |
ClinGen ExAC |
|
|
CA364039492 rs1488887513 |
538 | L>V | No |
ClinGen gnomAD |
|
|
rs766734756 CA3795923 |
540 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA364039457 rs373732523 |
542 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA137647254 rs373732523 |
542 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364039440 rs886061388 |
543 | A>V | No |
ClinGen gnomAD |
|
|
CA364039408 rs1582799237 |
547 | T>P | No |
ClinGen Ensembl |
|
|
rs761108020 CA3795922 |
548 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA364039335 rs1436876110 |
554 | C>Y | No |
ClinGen gnomAD |
|
|
rs769461471 CA3795917 |
555 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs759069147 CA3795916 |
555 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3795918 rs563447431 |
555 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364039309 rs149233109 |
556 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364039305 rs770838431 |
557 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3795914 rs770838431 |
557 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364039295 rs1266797677 |
558 | A>S | No |
ClinGen gnomAD |
|
|
rs746951739 CA3795913 |
558 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA364039232 rs1210866990 |
564 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA364039217 rs1349578952 |
565 | Q>R | No |
ClinGen gnomAD |
|
|
rs1348987348 CA364039205 |
567 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1234637011 CA364039177 |
569 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 569 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234637011 CA364039180 |
569 | D>G | No |
ClinGen gnomAD |
|
|
rs1195442940 CA364039138 |
573 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3795908 rs755060371 |
574 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs541278391 CA3795906 |
575 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs938403965 CA137647221 |
575 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs756641432 CA3795905 |
577 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3795904 rs750923775 |
580 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762229041 CA364039050 |
582 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762229041 CA3795902 |
582 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146849119 CA3795903 |
582 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764926640 CA3795900 |
584 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111379764 CA137647209 |
584 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA364039011 rs1582798862 |
586 | P>L | No |
ClinGen Ensembl |
|
|
CA364039016 rs1258743408 |
586 | P>T | No |
ClinGen gnomAD |
|
|
CA137647198 rs767564389 |
587 | T>P | No |
ClinGen Ensembl |
|
|
rs771872250 CA137647188 CA3795894 |
588 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342262686 CA364038990 |
589 | V>A | No |
ClinGen gnomAD |
|
|
rs1206678515 CA364038991 |
589 | V>L | No |
ClinGen gnomAD |
|
|
CA364038993 rs1206678515 |
589 | V>M | No |
ClinGen gnomAD |
|
|
rs779108677 CA3795892 |
591 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs143898126 CA137647178 |
591 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA137647174 rs761344256 |
593 | A>V | No |
ClinGen Ensembl |
|
|
rs577245246 CA3795891 |
594 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3795890 rs749503432 |
595 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364038899 rs1309776716 |
598 | A>V | No |
ClinGen gnomAD |
|
|
CA364038891 rs1431639093 |
599 | V>A | No |
ClinGen gnomAD |
|
|
rs781690412 CA3795886 |
601 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs537163552 CA3795887 |
601 | A>T | Variant assessed as Somatic; 0.000695 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1423664897 CA364038868 |
602 | L>F | No |
ClinGen gnomAD |
|
|
rs1184990009 CA364038857 |
603 | T>N | No |
ClinGen gnomAD |
|
|
CA364038823 rs1273241241 |
606 | D>E | No |
ClinGen gnomAD |
|
|
rs1193621629 CA364038820 |
607 | M>L | No |
ClinGen gnomAD |
|
|
CA3795882 rs754726947 |
607 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193621629 CA364038817 |
607 | M>V | No |
ClinGen gnomAD |
|
|
CA3795879 rs369986858 |
608 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290082940 CA364038796 |
609 | K>E | No |
ClinGen gnomAD |
|
|
rs184311499 CA3795878 |
610 | A>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA364038712 rs1410393829 |
616 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3795876 rs767373781 |
618 | E>G | No |
ClinGen ExAC gnomAD |
|
| rs760828381 | 619 | E>missing | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774192324 CA3795873 |
620 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3795871 rs768421004 |
622 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA364038639 rs1295459003 |
622 | L>R | No |
ClinGen TOPMed |
|
|
CA364038630 rs1184835713 |
623 | I>T | No |
ClinGen gnomAD |
|
|
CA137647142 rs1015012133 |
624 | S>G | No |
ClinGen TOPMed |
|
|
CA364038615 rs1279028508 |
624 | S>R | No |
ClinGen gnomAD |
|
|
rs775741893 CA3795869 |
627 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs745903344 CA3795868 |
630 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs375813466 CA3795865 |
630 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375813466 CA3795866 |
630 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3830477 rs745903344 CA3795867 |
630 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3795864 rs747494941 |
631 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3795863 rs778321139 |
632 | D>A | No |
ClinGen ExAC |
|
|
rs1332360995 CA364038545 |
632 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA364038541 rs1332360995 |
632 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs758795978 CA3795860 |
633 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA364038514 rs1228834062 |
634 | H>R | No |
ClinGen gnomAD |
|
|
CA3795857 rs180953829 |
635 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765994374 CA3795858 |
635 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364038496 rs1562082112 |
636 | A>S | No |
ClinGen Ensembl |
1 associated diseases with Q9NZB8
[MIM: 252150]: Molybdenum cofactor deficiency, complementation group A (MOCODA)
An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269|PubMed:12754701, ECO:0000269|PubMed:16021469, ECO:0000269|PubMed:9731530, ECO:0000269|PubMed:9921896}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269|PubMed:12754701, ECO:0000269|PubMed:16021469, ECO:0000269|PubMed:9731530, ECO:0000269|PubMed:9921896}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 4.1.99.22 | Other carbon-carbon lyases |
| 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. |
| molybdopterin synthase complex | A protein complex that possesses molybdopterin synthase activity. In E. coli, the complex is a heterotetramer consisting of two MoaD and two MoaE subunits. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| cyclic pyranopterin monophosphate synthase activity | Catalysis of the reaction: (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate = cyclic pyranopterin phosphate + diphosphate. |
| GTP 3',8'-cyclase activity | Catalysis of the reaction: GTP=(8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| metal ion binding | Binding to a metal ion. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| Mo-molybdopterin cofactor biosynthetic process | The chemical reactions and pathways resulting in the formation of the Mo-molybdopterin cofactor, essential for the catalytic activity of some enzymes. The cofactor consists of a mononuclear molybdenum (Mo) ion coordinated by one or two molybdopterin ligands. |
| molybdopterin cofactor biosynthetic process | The chemical reactions and pathways resulting in the formation of the molybdopterin cofactor (Moco), essential for the catalytic activity of some enzymes, e.g. sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The cofactor consists of a mononuclear molybdenum (Mo-molybdopterin) or tungsten ion (W-molybdopterin) coordinated by one or two molybdopterin ligands. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1JQD7 | MOCS1 | Molybdenum cofactor biosynthesis protein 1 | Bos taurus (Bovine) | PR |
| Q8IQF1 | Mocs1 | Molybdenum cofactor biosynthesis protein 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q5RKZ7 | Mocs1 | Molybdenum cofactor biosynthesis protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAARPLSRML | RRLLRSSARS | CSSGAPVTQP | CPGESARAAS | EEVSRRRQFL | REHAAPFSAF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTDSFGRQHS | YLRISLTEKC | NLRCQYCMPE | EGVPLTPKAN | LLTTEEILTL | ARLFVKEGID |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KIRLTGGEPL | IRPDVVDIVA | QLQRLEGLRT | IGVTTNGINL | ARLLPQLQKA | GLSAINISLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TLVPAKFEFI | VRRKGFHKVM | EGIHKAIELG | YNPVKVNCVV | MRGLNEDELL | DFAALTEGLP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDVRFIEYMP | FDGNKWNFKK | MVSYKEMLDT | VRQQWPELEK | VPEEESSTAK | AFKIPGFQGQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISFITSMSEH | FCGTCNRLRI | TADGNLKVCL | FGNSEVSLRD | HLRAGASEQE | LLRIIGAAVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RKKRQHAGMF | SISQMKNRPM | ILIELFLMFP | NSPPANPSIF | SWDPLHVQGL | RPRMSFSSQV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ATLWKGCRVP | QTPPLAQQRL | GSGSFQRHYT | SRADSDANSK | CLSPGSWASA | APSGPQLTSE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QLTHVDSEGR | AAMVDVGRKP | DTERVAVASA | VVLLGPVAFK | LVQQNQLKKG | DALVVAQLAG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VQAAKVTSQL | IPLCHHVALS | HIQVQLELDS | TRHAVKIQAS | CRARGPTGVE | MEALTSAAVA |
| 610 | 620 | 630 | |||
| ALTLYDMCKA | VSRDIVLEEI | KLISKTGGQR | GDFHRA |