Q01432
PR
Gene name |
AMPD3 |
Protein name |
AMP deaminase 3 |
Names |
AMP deaminase isoform E, Erythrocyte AMP deaminase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:272 |
EC number |
3.5.4.6: In cyclic amidines |
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 Q01432
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q01432-F1 | Predicted | AlphaFoldDB |
633 variants for Q01432
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs148904594 CA5882521 RCV001108280 |
3 | R>W | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1848271993 RCV001108281 |
19 | L>P | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001108282 rs933731212 |
27 | K>N | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001108283 rs375814372 CA5882531 |
37 | A>V | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000277030 CA5882572 rs201551496 |
91 | P>S | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
rs149433198 RCV000332124 CA5882575 |
95 | D>N | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774974291 RCV000386670 CA5882591 |
109 | T>A | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000293040 rs758624728 CA10636958 |
118 | S>F | Variant assessed as Somatic; 0.0 impact. Erythrocyte AMP deaminase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000319903 rs780348844 COSM1350545 CA5882599 |
121 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine Erythrocyte AMP deaminase deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756660564 RCV000398753 CA5882639 |
154 | S>G | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886047586 RCV000285685 CA10629755 COSM1182706 |
162 | R>Q | large_intestine Erythrocyte AMP deaminase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000340774 CA5882657 rs764108261 |
167 | R>L | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs11042836 CA5882671 RCV000393007 RCV000727606 VAR_033499 |
185 | R>W | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106150 rs144613367 CA5882775 |
279 | N>S | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_042606 | 310 | N>K | AMPDDE [UniProt] | Yes | UniProt |
|
rs117706710 CA5882798 RCV000152785 VAR_042607 RCV000514336 CA179743 RCV001106152 |
311 | V>L | Erythrocyte AMP deaminase deficiency AMPDDE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs117706710 RCV001106151 CA379653479 |
311 | V>M | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA217652720 VAR_042608 rs147542803 |
320 | A>V | Variant assessed as Somatic; 0.0 impact. AMPDDE [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_042609 rs750004231 CA5882832 |
324 | M>T | AMPDDE [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001108357 rs147246880 CA5882833 |
325 | N>S | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs555477655 CA10633253 RCV000275085 |
327 | K>N | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001108358 CA5882834 VAR_042610 rs758038726 |
331 | R>C | Erythrocyte AMP deaminase deficiency AMPDDE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA247098 RCV001108359 rs201115705 RCV002516801 RCV000179800 |
339 | T>M | Erythrocyte AMP deaminase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149809940 RCV001108360 CA5882857 |
356 | R>W | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001108361 rs75286033 RCV000956910 CA5882863 |
361 | G>S | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886047587 CA10629757 RCV000356848 |
363 | H>Y | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA217653074 rs979808372 RCV001103189 |
364 | M>V | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5882933 VAR_042611 rs766280048 |
402 | R>C | Variant assessed as Somatic; 9.239e-05 impact. AMPDDE [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs184691110 CA5882942 RCV000316795 |
420 | M>V | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA5882974 rs143114453 RCV001105104 RCV002555037 |
426 | R>W | Variant assessed as Somatic; 0.0 impact. Erythrocyte AMP deaminase deficiency Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5882981 RCV001105105 rs201772411 |
435 | Y>C | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379647791 VAR_042612 rs1273151844 |
450 | W>R | AMPDDE [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
VAR_042613 rs36003153 RCV000947325 RCV001105107 CA5882993 |
455 | Y>H | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5882999 RCV000322737 rs766302802 |
463 | Y>F | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144107914 RCV001105108 CA239157 RCV000173720 |
482 | S>L | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA379648632 rs1446342474 RCV001105109 |
499 | P>L | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5883050 rs141457480 RCV002520668 RCV000283072 |
505 | I>V | Erythrocyte AMP deaminase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10633257 rs886047588 RCV000347375 |
506 | N>D | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001106233 rs1849421091 |
517 | L>V | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001106234 rs146000615 CA5883082 |
523 | F>L | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750200570 CA5883087 RCV000383826 |
534 | D>N | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001108457 rs1849538120 |
570 | N>S | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009881 CA128020 rs3741040 RCV000019932 |
573 | R>C | Erythrocyte AMP deaminase deficiency AMPDDE; enzyme inactive [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs769751034 RCV002558085 CA5883154 RCV001108458 |
577 | G>S | Erythrocyte AMP deaminase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5883158 rs750830023 RCV001108459 |
580 | T>M | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748852415 VAR_042614 CA5883164 |
585 | P>L | AMPDDE [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001108460 CA5883168 rs142086203 |
591 | G>S | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1007093143 RCV001108462 CA217663762 |
631 | M>L | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1849617242 RCV001108463 |
661 | S>F | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764421503 RCV001103277 CA5883259 |
701 | V>L | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_042615 | 712 | Q>P | AMPDDE [UniProt] | Yes | UniProt |
|
CA5883301 rs144691269 RCV001103279 |
756 | A>G | Erythrocyte AMP deaminase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5882519 rs145604316 |
2 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA217664178 COSM1297582 rs867446911 |
2 | P>S | Variant assessed as Somatic; impact. urinary_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1363572849 COSM1675840 CA379648006 |
3 | R>Q | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA217664205 rs910172760 |
5 | F>L | No |
ClinGen Ensembl |
|
|
rs1435042398 CA379648034 |
7 | K>R | No |
ClinGen gnomAD |
|
|
rs1297550670 CA379648054 |
10 | I>N | No |
ClinGen TOPMed |
|
|
CA217664206 rs940161890 |
11 | S>A | No |
ClinGen Ensembl |
|
|
CA5882522 rs767996085 |
14 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882524 rs143425698 |
16 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA217664256 rs137905602 |
18 | R>Q | No |
ClinGen ESP gnomAD |
|
|
CA379648111 rs1265718905 |
19 | L>F | No |
ClinGen gnomAD |
|
|
CA5882526 rs749940953 |
21 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217664262 rs866323898 |
21 | A>T | No |
ClinGen Ensembl |
|
|
rs749940953 CA217664282 |
21 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379648124 rs1467164791 |
22 | E>Q | No |
ClinGen TOPMed |
|
|
rs1591440551 CA379648144 |
24 | V>G | No |
ClinGen Ensembl |
|
|
CA379648141 rs1591440543 |
24 | V>L | No |
ClinGen Ensembl |
|
|
rs779381182 CA5882528 |
26 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167901439 CA379648157 |
26 | A>V | No |
ClinGen TOPMed |
|
|
rs746982689 CA5882529 |
30 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217664337 rs373716662 |
30 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5882530 rs373716662 |
30 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379648192 rs1174342627 |
32 | E>G | No |
ClinGen gnomAD |
|
|
rs966976087 CA217664355 |
33 | D>A | No |
ClinGen TOPMed |
|
|
rs1347154806 CA379648201 |
33 | D>E | No |
ClinGen gnomAD |
|
|
rs144704411 CA379648196 |
33 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs144704411 CA217664346 |
33 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA217664362 rs757169910 |
37 | A>P | No |
ClinGen Ensembl |
|
|
rs747924930 CA5882532 |
39 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA5882533 rs770055051 |
43 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773456324 CA5882534 |
45 | E>K | No |
ClinGen ExAC |
|
|
rs1331273720 CA379648274 |
45 | E>V | No |
ClinGen gnomAD |
|
|
CA379648289 rs1564838916 |
47 | C>S | No |
ClinGen Ensembl |
|
|
CA5882535 rs138403236 |
49 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774226348 CA5882537 |
50 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1269941805 CA379648331 |
53 | E>V | No |
ClinGen gnomAD |
|
|
CA379648377 rs1208959061 |
60 | Q>E | No |
ClinGen gnomAD |
|
|
rs1267820786 CA379648379 |
60 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776041673 CA5882540 |
67 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA379648438 rs1417796779 |
68 | S>C | No |
ClinGen Ensembl |
|
|
rs200620189 CA5882542 |
70 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379648446 rs1472302387 |
70 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5882544 rs762457397 |
72 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA217664494 rs12418097 |
74 | R>G | No |
ClinGen Ensembl |
|
|
rs759018733 CA5882567 |
78 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766977576 CA5882568 |
80 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA379650244 COSM3791123 rs766977576 |
80 | M>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA217678403 rs937425335 |
83 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1564845737 CA379650318 |
85 | S>A | No |
ClinGen Ensembl |
|
|
rs752656041 CA5882570 |
87 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA379650344 rs1446560493 |
89 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755950396 CA5882571 |
90 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379650349 rs1302933874 |
90 | M>T | No |
ClinGen gnomAD |
|
|
rs1432845565 CA379650357 |
91 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1365629289 CA379650359 |
92 | P>S | No |
ClinGen gnomAD |
|
|
CA217678415 rs887869544 |
93 | Q>R | No |
ClinGen Ensembl |
|
|
rs1239408808 CA5882578 |
98 | G>A | No |
ClinGen TOPMed |
|
|
rs1252411938 CA379650429 |
99 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA379650435 rs1209441287 |
99 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA379650431 COSM1474960 rs1252411938 |
99 | P>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs369104893 CA5882580 |
100 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5882581 rs369104893 |
100 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs751130603 | 100 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751130603 | 101 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5882584 rs769041618 |
101 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA379650458 rs1379405261 |
101 | A>V | No |
ClinGen TOPMed |
|
|
rs777112392 CA5882585 |
103 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882587 rs770661067 |
104 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5882586 rs748440651 |
104 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759143042 CA5882589 |
105 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA379650520 rs1455231735 |
106 | M>I | No |
ClinGen gnomAD |
|
|
rs767030558 CA5882590 |
106 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 107 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319790158 CA379650533 |
108 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774974291 CA379650544 |
109 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA379650562 rs1432556518 |
110 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1432556518 CA379650559 |
110 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs760720772 CA5882592 |
110 | T>P | No |
ClinGen ExAC |
|
|
CA217678477 rs990438647 |
113 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5882596 rs765075836 |
116 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA217678489 rs997797928 |
116 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758624728 CA5882598 |
118 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780348844 CA379650682 |
121 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379650689 rs1452125064 |
122 | P>S | No |
ClinGen TOPMed |
|
|
CA5882601 rs755557739 |
123 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1431045611 CA379650708 |
124 | P>T | No |
ClinGen gnomAD |
|
|
rs1203200424 CA379650729 |
125 | Y>* | No |
ClinGen TOPMed |
|
|
rs781521325 CA5882602 |
125 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs889247544 CA217678540 |
127 | M>R | No |
ClinGen TOPMed |
|
|
CA379650769 rs1157779018 |
128 | P>L | No |
ClinGen gnomAD |
|
|
rs1591460679 CA379650763 |
128 | P>S | No |
ClinGen Ensembl |
|
|
rs748652391 CA5882603 |
132 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050978317 CA217678547 |
132 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA379650821 rs1370483916 |
133 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5882604 rs770082013 |
134 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1303972426 CA379650857 |
136 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 141 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379651011 rs1236768355 |
143 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5882634 rs766237847 |
143 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473096268 CA379651028 |
145 | L>V | No |
ClinGen gnomAD |
|
|
rs1403582994 CA379651047 |
146 | E>D | No |
ClinGen TOPMed |
|
|
CA379651036 rs1185153649 |
146 | E>K | No |
ClinGen gnomAD |
|
|
COSM3666045 CA5882636 rs147454158 |
147 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs147454158 CA5882635 |
147 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428926747 CA379651067 |
148 | Y>F | No |
ClinGen gnomAD |
|
|
rs1168183249 CA379651071 |
149 | E>K | No |
ClinGen gnomAD |
|
|
rs778219413 CA5882640 |
155 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs757637339 CA5882642 |
158 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5882641 rs200180931 |
158 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA5882647 rs747673137 |
160 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs780623304 CA5882646 |
160 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201639499 CA5882648 |
162 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201639499 CA5882649 |
162 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139917184 CA5882650 |
164 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379651289 rs1325713483 |
164 | K>R | No |
ClinGen gnomAD |
|
|
rs774133774 CA5882653 |
165 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882651 rs770866014 |
165 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882654 rs767753231 |
166 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760772452 CA5882656 |
167 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379651365 rs779211791 |
169 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882660 rs779211791 |
169 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779211791 CA379651363 |
169 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379651384 rs1591464737 |
170 | Y>S | No |
ClinGen Ensembl |
|
|
rs1339254914 CA379651404 |
171 | H>Q | No |
ClinGen gnomAD |
|
|
CA5882661 rs750786612 |
172 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882662 rs754636700 |
172 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs367749804 CA5882663 COSM242930 |
174 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs762205591 CA5882666 |
175 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5882665 rs755709235 |
175 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA379651470 rs1354147084 |
176 | I>M | No |
ClinGen TOPMed |
|
|
rs1327033264 CA379651481 |
177 | T>I | No |
ClinGen TOPMed |
|
|
rs1591464810 CA379651515 |
180 | Y>S | No |
ClinGen Ensembl |
|
|
CA379651534 rs1205089010 |
181 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379651540 rs1266094775 |
182 | G>S | No |
ClinGen gnomAD |
|
|
CA5882668 rs184537234 |
183 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5882669 rs774075201 |
184 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379651578 rs1564847456 |
185 | R>Q | No |
ClinGen Ensembl |
|
|
rs202051288 CA5882674 |
186 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202051288 CA5882673 |
186 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5882677 rs765752211 |
187 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5882676 rs777511548 |
187 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379651607 rs1410327245 |
188 | T>A | No |
ClinGen gnomAD |
|
|
rs750793624 CA5882679 |
189 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1727643 CA5882678 rs750793624 |
189 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5882681 rs752415155 |
191 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752415155 CA217680590 |
191 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564847498 CA379651658 |
192 | E>D | No |
ClinGen Ensembl |
|
|
rs1041230084 CA217680601 |
193 | E>V | No |
ClinGen Ensembl |
|
|
CA379651702 rs1322467352 |
196 | P>A | No |
ClinGen gnomAD |
|
|
rs1312740290 CA379652117 |
198 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1591467666 CA379652125 |
199 | H>Y | No |
ClinGen Ensembl |
|
|
CA379652159 rs1350155312 |
202 | P>L | No |
ClinGen TOPMed |
|
|
CA5882710 rs768905813 |
204 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1803101 CA217682052 |
205 | Q>K | No |
ClinGen Ensembl |
|
|
rs781424869 CA5882711 |
205 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA379652214 rs1353632129 |
208 | P>S | No |
ClinGen gnomAD |
|
|
rs1315700520 CA379652265 |
212 | D>E | No |
ClinGen gnomAD |
|
|
rs773101414 CA5882714 |
212 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA379652288 rs1384703022 |
214 | A>V | No |
ClinGen gnomAD |
|
|
rs771555030 CA379652305 |
216 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs771555030 CA5882716 |
216 | P>R | No |
ClinGen ExAC gnomAD |
|
| rs1298240902 | 217 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205243330 CA379652327 |
219 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA217682074 rs774305514 |
222 | V>I | No |
ClinGen Ensembl |
|
|
rs1349474040 CA379652386 |
223 | H>L | No |
ClinGen gnomAD |
|
|
CA379652387 rs34319136 |
223 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5882720 rs753551414 |
224 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs767419200 CA5882719 |
224 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761302527 CA5882721 |
225 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA379652414 rs1376754697 |
226 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 227 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379652467 rs1418284505 |
231 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866866033 CA217682099 |
233 | D>N | No |
ClinGen Ensembl |
|
|
rs1388052379 CA379652493 |
233 | D>V | No |
ClinGen TOPMed |
|
|
rs987924771 CA379652509 |
234 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA379652525 rs1171857652 |
236 | K>E | No |
ClinGen gnomAD |
|
|
rs560405331 CA217682110 |
238 | L>P | No |
ClinGen 1000Genomes |
|
|
CA5882723 rs540688833 |
238 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758409888 CA5882724 |
239 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5882725 rs779934775 |
240 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA379652578 rs1413263350 |
240 | H>Q | No |
ClinGen TOPMed |
|
|
rs1209559684 CA379652580 |
241 | Q>K | No |
ClinGen gnomAD |
|
|
rs1408212210 CA379652585 |
241 | Q>R | No |
ClinGen gnomAD |
|
|
CA5882726 rs751459310 |
242 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA5882728 rs754789645 |
243 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296626752 CA379652616 |
244 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA379652631 rs1258358377 |
245 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs368122845 CA379652637 |
245 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1310504438 CA379652645 |
246 | L>R | No |
ClinGen gnomAD |
|
|
rs1463064649 CA379652662 |
248 | Y>* | No |
ClinGen gnomAD |
|
|
CA5882733 rs749309648 |
248 | Y>C | No |
ClinGen ExAC |
|
|
rs267602678 CA217682131 |
249 | P>L | No |
ClinGen Ensembl |
|
|
rs145610067 CA5882735 |
250 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA379652693 rs1422701553 |
251 | L>R | No |
ClinGen gnomAD |
|
|
CA379652688 rs1321500657 |
251 | L>V | No |
ClinGen TOPMed |
|
|
rs1407928229 CA379652695 |
252 | E>Q | No |
ClinGen Ensembl |
|
|
rs1176535426 CA379652712 |
253 | T>I | No |
ClinGen gnomAD |
|
|
CA379652722 rs1311495105 |
254 | Y>C | No |
ClinGen TOPMed |
|
|
rs772567174 CA5882737 |
255 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882739 rs761582303 |
256 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199564481 CA5882740 |
257 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1290853678 CA379652760 |
258 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs146416222 CA5882741 |
258 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379652807 rs1343879115 |
263 | A>T | No |
ClinGen gnomAD |
|
|
CA379652814 rs1222923347 |
264 | L>V | No |
ClinGen gnomAD |
|
|
CA379652821 rs1284029546 |
265 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162898657 CA379652843 |
267 | D>A | No |
ClinGen TOPMed |
|
|
rs140837736 CA217682142 |
267 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA379652858 rs1317887827 |
268 | G>V | No |
ClinGen gnomAD |
|
|
CA5882744 rs751512356 |
269 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5882745 rs754844590 |
270 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5882769 rs754007193 |
272 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757545666 CA5882770 |
273 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217683075 rs912495249 |
274 | C>R | No |
ClinGen TOPMed |
|
|
CA5882771 rs779189674 |
275 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1337058314 CA379653233 |
276 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA379653232 rs1337058314 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5882772 rs745918146 |
276 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5882773 rs553182811 |
277 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5882774 rs780455568 |
277 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378337478 CA379653266 |
282 | E>A | No |
ClinGen gnomAD |
|
|
CA5882778 rs749008541 |
287 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773902374 CA5882781 |
288 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777500401 CA5882779 |
288 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5882784 rs760590808 |
293 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5882786 rs753670698 |
295 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5882788 rs372251959 |
296 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379653373 rs1339132516 |
297 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200965115 CA217683135 |
301 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200965115 CA5882789 |
301 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196332379 CA379653427 |
304 | P>S | No |
ClinGen TOPMed |
|
|
rs1434367416 CA379653437 |
305 | H>Q | No |
ClinGen TOPMed |
|
|
rs1270464766 CA379653431 |
305 | H>Y | No |
ClinGen gnomAD |
|
|
CA5882793 rs76836360 |
306 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770816391 CA217683152 |
309 | Y>C | No |
ClinGen Ensembl |
|
|
CA5882795 rs781470085 |
309 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA379653465 rs1461727392 |
310 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379653513 rs1192729603 |
313 | K>N | No |
ClinGen gnomAD |
|
|
rs769716220 CA5882823 |
316 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs774336879 CA5882827 |
319 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs766604082 CA5882826 |
319 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5882830 rs753220264 |
322 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419033264 CA379646869 |
323 | C>F | No |
ClinGen gnomAD |
|
|
rs1268320534 CA379646872 |
324 | M>L | No |
ClinGen gnomAD |
|
|
CA379646899 rs1162530639 |
327 | K>R | No |
ClinGen gnomAD |
|
|
CA379646921 rs1425942523 |
331 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5882835 rs758038726 |
331 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882837 rs754541053 |
333 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA379646937 rs1391867524 |
333 | I>M | No |
ClinGen gnomAD |
|
|
CA379646933 rs754541053 |
333 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA217652814 rs375967847 |
334 | K>E | No |
ClinGen ESP |
|
|
rs780791990 CA5882838 |
334 | K>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748153289 CA5882839 |
336 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773180646 CA5882841 |
337 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769849103 CA5882840 |
337 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379647026 rs201115705 |
339 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775547255 CA5882846 |
343 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA217652904 rs886990242 |
344 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA379647059 rs1196871447 |
344 | T>S | No |
ClinGen gnomAD |
|
|
CA5882847 rs531200117 |
345 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373399680 CA5882849 |
346 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA217652942 rs765454178 |
349 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201733675 CA5882852 |
349 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765454178 CA5882851 |
349 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754663855 CA5882853 |
350 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA217652969 rs923445722 |
351 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5882854 rs780915004 |
351 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5882855 rs185472192 |
353 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379647111 rs1591477414 |
354 | T>P | No |
ClinGen Ensembl |
|
|
CA217652985 rs929360583 |
355 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
RCV000969602 CA5882859 rs61388455 |
356 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA217653027 rs895702152 |
358 | V>G | No |
ClinGen Ensembl |
|
|
CA5882860 rs778510210 |
358 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA379647138 rs1591477445 |
359 | F>V | No |
ClinGen Ensembl |
|
|
rs374252233 CA5882861 |
360 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5882864 rs760768317 |
362 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1203391751 CA379647187 |
366 | P>R | No |
ClinGen gnomAD |
|
|
CA5882867 rs762169437 |
368 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217653098 rs370627386 |
369 | L>F | No |
ClinGen Ensembl |
|
|
CA379647210 rs1260690805 |
370 | T>A | No |
ClinGen gnomAD |
|
|
CA5882869 rs750748513 |
375 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767255627 CA5882871 |
378 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882872 rs538116291 |
378 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5882922 rs749864147 |
380 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777939609 CA5882921 |
380 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564853900 CA379647291 |
381 | Q>R | No |
ClinGen Ensembl |
|
|
CA379647305 rs1564853910 |
383 | F>C | No |
ClinGen Ensembl |
|
|
CA379647301 rs1258614134 |
383 | F>L | No |
ClinGen gnomAD |
|
|
rs1393280518 CA379647310 |
384 | H>Y | No |
ClinGen TOPMed |
|
|
CA5882924 rs774908738 |
385 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746245438 CA5882925 |
385 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3808218 CA5882926 rs772445349 |
391 | S>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5882927 rs776155457 |
392 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA379647377 rs1167459042 |
392 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5882929 rs761471998 |
395 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA217654548 rs368114311 |
395 | P>S | No |
ClinGen ESP |
|
| TCGA novel | 398 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5882931 rs772705069 |
398 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs577741945 CA217654578 |
400 | E>V | No |
ClinGen gnomAD |
|
|
CA5882934 rs751465671 |
402 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171235727 CA379647496 |
406 | L>M | No |
ClinGen gnomAD |
|
|
CA5882936 rs767274643 |
411 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA379647535 rs767274643 |
411 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA5882937 rs370697339 |
412 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221554350 CA379647546 |
413 | G>E | No |
ClinGen gnomAD |
|
|
rs1345451189 CA379647568 |
416 | Y>F | No |
ClinGen gnomAD |
|
|
rs1280971294 CA379647575 |
417 | F>S | No |
ClinGen gnomAD |
|
|
CA5882938 rs756343066 |
417 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778061442 CA5882941 |
419 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374394284 CA5882939 |
419 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA379647592 rs1478851358 |
420 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5882943 rs374790366 |
420 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379647595 rs949894741 |
421 | V>F | No |
ClinGen gnomAD |
|
|
CA217654699 rs949894741 |
421 | V>I | No |
ClinGen gnomAD |
|
|
CA5882944 rs779599345 |
422 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882972 rs375146544 |
424 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882971 rs375146544 |
424 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772010345 CA379647631 |
425 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772010345 CA5882973 |
425 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882975 rs373969791 |
426 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5882976 rs763919044 |
431 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882977 rs754128342 |
433 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs765301994 CA217655397 |
434 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882979 rs765301994 |
434 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249122721 CA379647691 |
434 | Q>R | No |
ClinGen gnomAD |
|
|
CA379647721 rs1442354612 |
438 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 439 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951954537 CA217655423 |
439 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5882985 rs781476074 |
441 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5882987 rs756895453 |
444 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3808219 rs745357827 CA5882989 |
445 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs151145579 CA5882990 |
445 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151145579 CA379647759 |
445 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5882991 rs775506721 |
446 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379647786 rs1322405117 |
449 | E>G | No |
ClinGen gnomAD |
|
|
rs971127218 CA217655499 |
452 | N>S | No |
ClinGen TOPMed |
|
|
CA379647815 rs1366919341 |
453 | L>P | No |
ClinGen gnomAD |
|
|
rs746887841 CA379647817 |
454 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746887841 CA5882992 |
454 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA217655510 rs924858555 |
456 | W>G | No |
ClinGen TOPMed |
|
|
CA5882994 rs776564281 |
456 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560583400 CA5882995 |
457 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460271136 CA379647850 |
459 | Q>E | No |
ClinGen gnomAD |
|
|
CA379647874 rs773260324 |
462 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882998 rs773260324 |
462 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882997 rs773260324 |
462 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883000 rs766302802 |
463 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379647887 rs1167763858 |
464 | S>Y | No |
ClinGen gnomAD |
|
|
CA5883001 rs141786561 |
465 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1564854643 CA379647899 |
466 | N>S | No |
ClinGen Ensembl |
|
|
CA217655608 rs780151825 |
467 | M>R | No |
ClinGen Ensembl |
|
|
CA5883003 rs147091692 |
468 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5883004 rs753026219 |
468 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1188171 CA5883005 rs753026219 |
468 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA379647942 rs1302475012 |
472 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778647342 CA5883007 |
472 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs778647342 CA5883006 |
472 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1564854701 CA379647947 |
473 | V>E | No |
ClinGen Ensembl |
|
|
rs1380236031 CA379647944 |
473 | V>L | No |
ClinGen gnomAD |
|
|
rs1293474730 CA379647956 |
475 | R>Q | No |
ClinGen gnomAD |
|
|
rs138513318 CA5883009 |
475 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761075787 CA5883040 |
480 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1052970378 CA217656774 |
480 | F>L | No |
ClinGen TOPMed |
|
|
CA379648510 rs1308934681 |
481 | R>G | No |
ClinGen TOPMed |
|
|
rs144107914 CA5883041 |
482 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436322391 CA379648530 |
484 | K>E | No |
ClinGen gnomAD |
|
|
rs371018918 CA217656800 |
484 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766152854 CA5883043 |
487 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA217656820 rs888946866 |
488 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 489 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379648579 rs1308052074 |
491 | K>N | No |
ClinGen gnomAD |
|
|
CA217656821 rs1007413846 |
492 | M>I | No |
ClinGen Ensembl |
|
|
CA217656833 rs147243781 |
494 | E>* | No |
ClinGen ESP |
|
| TCGA novel | 494 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375460827 CA5883044 |
495 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5883047 rs755999730 |
502 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5883048 rs777659495 |
503 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749010948 CA217656899 |
504 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883049 rs749010948 |
504 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779133734 CA5883051 |
505 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746035950 CA5883053 |
506 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413306389 CA379648671 |
506 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs150860475 CA5883055 |
511 | R>* | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5883056 rs139315187 |
511 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379648727 rs1331054011 |
514 | H>Q | No |
ClinGen gnomAD |
|
|
rs144082890 CA5883057 |
514 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5883058 rs762118197 |
515 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379648732 rs1238343368 |
515 | L>R | No |
ClinGen TOPMed |
|
|
rs765631548 CA5883059 |
517 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775155002 CA5883081 |
521 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379648806 rs1193572555 |
524 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM238774 rs1478995460 CA379648815 |
526 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1401978843 CA379648824 |
527 | D>G | No |
ClinGen gnomAD |
|
|
CA379648822 rs1171231003 |
527 | D>H | No |
ClinGen gnomAD |
|
|
CA5883083 rs763590271 |
528 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA379648852 rs1335794923 |
531 | K>Q | No |
ClinGen gnomAD |
|
|
CA5883084 rs753780705 |
531 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs757185298 CA5883085 |
532 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1283548234 CA379648869 |
533 | S>N | No |
ClinGen TOPMed |
|
|
CA5883088 rs750200570 |
534 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883089 rs780170456 |
535 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA5883092 rs369847579 |
536 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747189842 CA5883091 |
536 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA379648892 rs1282820834 |
537 | F>I | No |
ClinGen gnomAD |
|
|
rs376881899 CA5883094 |
539 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372073804 CA5883095 |
540 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5883096 rs139950075 |
542 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1377367096 CA379648939 |
543 | N>K | No |
ClinGen gnomAD |
|
|
rs749689967 CA5883098 |
544 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs749689967 CA5883097 |
544 | P>R | No |
ClinGen ExAC TOPMed |
|
|
rs768121776 CA379648954 |
546 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768121776 CA5883101 |
546 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883103 rs761792246 |
548 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217660932 rs1049104552 |
552 | N>S | No |
ClinGen Ensembl |
|
|
rs765184879 CA5883104 |
553 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591485422 CA379649010 |
554 | P>S | No |
ClinGen Ensembl |
|
|
CA5883106 rs369963984 |
556 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322821478 CA379649042 |
558 | Y>C | No |
ClinGen gnomAD |
|
|
CA379649047 rs148830658 |
559 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379649058 rs1591485466 |
560 | Y>* | No |
ClinGen Ensembl |
|
|
rs755221321 CA5883109 |
561 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs372507080 CA5883110 |
562 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA217661037 rs900960965 |
563 | Y>C | No |
ClinGen Ensembl |
|
|
rs1286765464 CA379649081 |
564 | A>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1352951203 CA379649085 |
564 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778451668 CA5883113 |
567 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1267343879 CA379649104 |
567 | M>L | No |
ClinGen gnomAD |
|
|
rs1267343879 CA379649103 |
567 | M>V | No |
ClinGen gnomAD |
|
|
rs1195944889 CA379649110 |
568 | V>M | No |
ClinGen gnomAD |
|
|
CA5883114 rs771210624 |
573 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379649169 rs1236546570 |
575 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA379649177 rs1475904696 |
576 | R>C | No |
ClinGen gnomAD |
|
|
CA5883150 rs760963439 |
576 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379649183 rs1478011100 |
577 | G>V | No |
ClinGen gnomAD |
|
|
CA5883156 rs757239966 |
578 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs765809522 CA379649192 |
579 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883157 rs765809522 |
579 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379649196 rs1591486989 |
580 | T>P | No |
ClinGen Ensembl |
|
|
CA5883160 rs780385072 |
581 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA379649205 rs1276837323 |
581 | F>Y | No |
ClinGen gnomAD |
|
|
rs777313112 CA5883163 |
584 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5883162 rs755730345 |
584 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748852415 CA379649227 |
585 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748852415 CA5883165 |
585 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379649232 rs1331960358 |
586 | H>R | No |
ClinGen TOPMed |
|
|
CA379649260 rs1256292347 |
590 | A>T | No |
ClinGen gnomAD |
|
|
CA5883169 COSM3735094 rs147078197 |
592 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
CA217662667 rs1040363193 |
592 | S>P | No |
ClinGen gnomAD |
|
|
CA5883170 rs201382264 |
593 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897264095 CA217662689 |
594 | T>S | No |
ClinGen TOPMed |
|
|
CA379649286 rs1422718459 |
595 | H>Y | No |
ClinGen gnomAD |
|
|
CA379649294 rs1175616610 |
596 | L>Q | No |
ClinGen gnomAD |
|
|
CA379649293 rs1432452960 |
596 | L>V | No |
ClinGen gnomAD |
|
|
CA379649298 rs1395977232 |
597 | V>L | No |
ClinGen gnomAD |
|
|
CA5883171 rs764436315 |
599 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs764436315 CA379649313 |
599 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776681572 CA5883172 |
602 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761962112 CA5883173 |
603 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379649358 rs994132050 |
606 | I>N | No |
ClinGen TOPMed |
|
|
CA217662708 rs994132050 |
606 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 607 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201980416 CA5883177 |
608 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301507874 CA379649373 |
609 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1301507874 CA379649375 |
609 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5883179 rs755285212 |
613 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs751897287 CA5883178 |
613 | K>R | No |
ClinGen ExAC |
|
|
CA5883198 rs767712561 |
616 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883201 rs756852081 |
618 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1166300522 CA379649447 |
619 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 619 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5883202 rs778522897 |
619 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379649458 rs1464447065 |
620 | Y>C | No |
ClinGen gnomAD |
|
|
rs749978382 CA5883203 |
621 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757944528 CA5883205 |
621 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs757944528 CA5883204 |
621 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1443963462 CA379649469 |
622 | Y>C | No |
ClinGen gnomAD |
|
|
rs1564858720 CA379649475 |
623 | Y>F | No |
ClinGen Ensembl |
|
|
rs751906808 CA217663694 |
623 | Y>H | No |
ClinGen TOPMed |
|
|
CA379649473 rs751906808 |
623 | Y>N | No |
ClinGen TOPMed |
|
|
CA5883208 rs768554651 |
626 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs200359931 CA217663708 |
627 | I>N | No |
ClinGen Ensembl |
|
|
CA5883209 rs780845864 |
628 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883210 rs780845864 |
628 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197827986 CA379649517 |
629 | I>T | No |
ClinGen gnomAD |
|
|
rs374699886 CA5883211 |
629 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202212138 CA5883212 |
631 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1438569827 CA379649542 |
632 | S>T | No |
ClinGen gnomAD |
|
|
CA217663784 rs965012048 |
633 | P>S | No |
ClinGen TOPMed |
|
|
rs763051182 CA5883213 |
634 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770930083 CA5883214 |
636 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA5883215 rs142638731 |
636 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1189254874 CA379649630 |
639 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA379649645 rs1420715771 |
641 | L>F | No |
ClinGen gnomAD |
|
|
rs1420702644 CA379649654 |
642 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5883217 rs767990716 COSM922466 |
642 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA379649691 rs1411242117 |
645 | K>R | No |
ClinGen gnomAD |
|
|
rs1386035435 CA379649696 |
646 | N>H | No |
ClinGen TOPMed |
|
|
rs1031653860 CA217663838 |
653 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs761053041 CA5883219 |
654 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 655 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 655 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764830978 CA379649813 |
657 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA379649816 rs1338385182 |
657 | H>R | No |
ClinGen gnomAD |
|
|
CA5883220 rs764830978 |
657 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379649837 rs1156983748 |
659 | S>C | No |
ClinGen TOPMed |
|
|
rs1270504026 CA379649863 |
662 | T>I | No |
ClinGen gnomAD |
|
|
rs757995637 CA5883222 |
663 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5883223 rs765978318 |
666 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379649920 rs1269995839 |
667 | Q>R | No |
ClinGen TOPMed |
|
|
CA379649933 rs1485374104 |
668 | F>S | No |
ClinGen gnomAD |
|
|
CA379649953 rs1359768149 |
670 | Y>D | No |
ClinGen TOPMed |
|
|
CA5883247 rs749577438 |
679 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs867679614 CA379650507 |
680 | A>G | No |
ClinGen gnomAD |
|
|
CA217665242 rs867679614 |
680 | A>V | No |
ClinGen gnomAD |
|
|
CA5883249 rs779012262 |
682 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA379650541 rs1322592842 |
683 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5883250 rs745967234 |
683 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379650568 rs1451317527 |
685 | V>E | No |
ClinGen Ensembl |
|
|
rs772124788 CA5883251 |
685 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775875448 CA5883252 |
688 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs976083908 CA217665380 |
694 | C>R | No |
ClinGen TOPMed |
|
|
rs956338794 CA217665386 |
696 | I>F | No |
ClinGen Ensembl |
|
|
rs533012852 CA5883255 |
696 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758822482 CA217665405 |
697 | A>T | No |
ClinGen gnomAD |
|
|
CA379650770 rs1470369042 |
700 | S>N | No |
ClinGen TOPMed |
|
|
CA5883260 rs764421503 |
701 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379650793 rs1181855276 |
702 | L>M | No |
ClinGen gnomAD |
|
|
CA379650800 rs1591489950 |
702 | L>P | No |
ClinGen Ensembl |
|
|
CA5883261 rs766990825 |
704 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA217665433 rs992038150 |
705 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 706 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752148858 CA379650865 |
707 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752148858 CA5883264 |
707 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752148858 CA5883263 |
707 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883267 rs757666658 |
708 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379650872 rs757666658 |
708 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883266 rs200743308 |
708 | H>Y | No |
ClinGen 1000Genomes ExAC |
|
|
rs1591490002 CA379650888 |
709 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 710 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 718 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217666378 rs1033468421 |
718 | N>K | No |
ClinGen TOPMed |
|
|
rs1276634863 CA379651340 |
719 | Y>C | No |
ClinGen gnomAD |
|
|
rs1307290081 CA379651360 |
720 | Y>F | No |
ClinGen gnomAD |
|
|
rs1030869866 CA217666398 |
724 | P>H | No |
ClinGen Ensembl |
|
|
rs1483504134 CA379651465 |
728 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1483504134 CA379651469 |
728 | D>Y | No |
ClinGen TOPMed |
|
|
rs751685290 CA5883289 |
729 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5883290 rs755071594 COSM175247 |
730 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA379651494 rs755071594 |
730 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883291 rs781765090 |
730 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1401587999 CA379651565 |
735 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1310378011 CA379651593 |
737 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5883292 rs748604876 |
738 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260692672 CA379651596 |
738 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5883293 rs368883763 |
742 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379651647 rs1375048503 |
742 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5883294 rs778191609 |
743 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883297 rs774955166 |
747 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535586797 CA5883300 |
754 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764981023 CA5883302 |
757 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764981023 CA217666442 |
757 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773042667 CA379651825 |
762 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5883304 rs200399571 |
762 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5883303 rs773042667 |
762 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379651833 rs1473071210 |
763 | T>N | No |
ClinGen TOPMed |
|
|
rs767689124 CA5883308 |
764 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 765 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769854534 CA5883309 |
765 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379651860 rs756654872 |
767 | N>K | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q01432
[MIM: 612874]: Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. {ECO:0000269|PubMed:11139257, ECO:0000269|PubMed:7881427, ECO:0000269|PubMed:8004104, ECO:0000269|PubMed:9598089}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. {ECO:0000269|PubMed:11139257, ECO:0000269|PubMed:7881427, ECO:0000269|PubMed:8004104, ECO:0000269|PubMed:9598089}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q01432
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| active_site | Adenosine/AMP deaminase active site | 659 - 665 | IPR006650 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.5.4.6 | In cyclic amidines |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| AMP deaminase activity | Catalysis of the reaction: AMP + H2O = IMP + NH3. |
| metal ion binding | Binding to a metal ion. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| AMP catabolic process | The chemical reactions and pathways resulting in the breakdown of AMP, adenosine monophosphate. |
| AMP metabolic process | The chemical reactions and pathways involving AMP, adenosine monophosphate. |
| IMP biosynthetic process | The chemical reactions and pathways resulting in the formation of IMP, inosine monophosphate. |
| IMP salvage | Any process which produces inosine monophosphate from derivatives of it, without de novo synthesis. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPRQFPKLNI | SEVDEQVRLL | AEKVFAKVLR | EEDSKDALSL | FTVPEDCPIG | QKEAKERELQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KELAEQKSVE | TAKRKKSFKM | IRSQSLSLQM | PPQQDWKGPP | AASPAMSPTT | PVVTGATSLP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPAPYAMPEF | QRVTISGDYC | AGITLEDYEQ | AAKSLAKALM | IREKYARLAY | HRFPRITSQY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGHPRADTAP | PEEGLPDFHP | PPLPQEDPYC | LDDAPPNLDY | LVHMQGGILF | VYDNKKMLEH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QEPHSLPYPD | LETYTVDMSH | ILALITDGPT | KTYCHRRLNF | LESKFSLHEM | LNEMSEFKEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KSNPHRDFYN | VRKVDTHIHA | AACMNQKHLL | RFIKHTYQTE | PDRTVAEKRG | RKITLRQVFD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLHMDPYDLT | VDSLDVHAGR | QTFHRFDKFN | SKYNPVGASE | LRDLYLKTEN | YLGGEYFARM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VKEVARELEE | SKYQYSEPRL | SIYGRSPEEW | PNLAYWFIQH | KVYSPNMRWI | IQVPRIYDIF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RSKKLLPNFG | KMLENIFLPL | FKATINPQDH | RELHLFLKYV | TGFDSVDDES | KHSDHMFSDK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SPNPDVWTSE | QNPPYSYYLY | YMYANIMVLN | NLRRERGLST | FLFRPHCGEA | GSITHLVSAF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LTADNISHGL | LLKKSPVLQY | LYYLAQIPIA | MSPLSNNSLF | LEYSKNPLRE | FLHKGLHVSL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| STDDPMQFHY | TKEALMEEYA | IAAQVWKLST | CDLCEIARNS | VLQSGLSHQE | KQKFLGQNYY |
| 730 | 740 | 750 | 760 | ||
| KEGPEGNDIR | KTNVAQIRMA | FRYETLCNEL | SFLSDAMKSE | EITALTN |