P51160
PR
Gene name |
PDE6C (PDEA2) |
Protein name |
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' |
Names |
cGMP phosphodiesterase 6C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5146 |
EC number |
3.1.4.35: Phosphoric diester hydrolases |
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
4 structures for P51160
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3JWQ | X-ray | 287 A | A/B/C/D | 746-785 | PDB |
| 3JWR | X-ray | 299 A | A/B | 746-785 | PDB |
| 5E8F | X-ray | 210 A | D/E | 851-855 | PDB |
| AF-P51160-F1 | Predicted | AlphaFoldDB |
682 variants for P51160
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000664193 rs1554888353 |
27 | K>missing | Achromatopsia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121918537 VAR_062408 RCV000761206 RCV001389961 RCV000009308 CA340825 |
29 | R>W | Cone dystrophy 4 Cone dystrophy 4 (cod4) Achromatopsia 5 COD4 and ACHM5; severely decreases cGMP phosphodiesterase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000357767 RCV000309969 RCV001314357 CA5609761 rs772889663 |
34 | G>E | Cone dystrophy 4 Variant assessed as Somatic; 0.0 impact. Achromatopsia [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000322796 CA5609765 RCV001850594 rs774245507 RCV000265430 |
42 | V>M | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000259406 RCV000361122 CA5609775 RCV000965861 rs62642544 RCV000253954 |
68 | T>I | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756324901 RCV000664190 CA5609777 |
71 | E>* | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2058399145 RCV001073910 |
84 | L>P | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786200908 RCV001851759 RCV000009310 |
87 | L>missing | Achromatopsia 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001106046 rs757099539 CA5609797 RCV001106045 RCV001856424 |
95 | R>C | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000664196 rs375795507 RCV002506388 CA377622445 |
102 | R>W | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769506319 CA5609806 VAR_079307 |
104 | R>W | ACHM5; severely decreases cGMP phosphodiesterase activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001297987 RCV000344692 RCV000398597 rs201231586 CA5609810 |
106 | G>S | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5609819 rs142772345 RCV000348172 RCV000290927 RCV001212083 |
119 | P>L | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001519424 rs139456217 RCV001108268 CA5609831 RCV001108269 RCV002249692 |
138 | L>S | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001029762 CA377622850 rs1589690942 |
145 | W>* | Cone dystrophy 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139652451 RCV001418873 RCV000303788 RCV000406720 CA5609837 |
149 | T>M | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145591492 RCV001108270 RCV001438555 RCV001108271 CA5609846 |
156 | P>S | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_025470 RCV000153668 RCV001108272 CA180279 RCV001103074 RCV000900748 rs76999928 |
157 | D>E | Cone dystrophy 4 Cone dystrophy 4 (cod4) Achromatopsia [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA377625969 rs1589693002 RCV001003117 |
164 | F>L | Cone dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554888848 RCV000664194 |
166 | D>missing | Achromatopsia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000406692 rs200506932 CA10636904 RCV000360763 |
168 | M>K | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5609873 rs760690854 RCV001298792 RCV000354990 RCV000297834 |
181 | A>V | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000504665 rs1554888858 CA377626617 |
199 | K>E | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000261733 CA10636906 rs886047481 RCV001859791 RCV000319250 RCV002520644 |
208 | Q>R | Cone dystrophy 4 Inborn genetic diseases Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA377626893 RCV000504786 rs1554888861 |
211 | E>* | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA119901 rs387906401 RCV000009313 |
211 | E>D | Achromatopsia 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000171184 CA235810 rs762426409 RCV001781531 |
238 | R>* | Cone dystrophy 4 Cone dystrophy 4 (cod4) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA377628103 RCV001075711 rs1256862126 RCV001862627 |
246 | S>P | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000332176 rs140524715 RCV000178258 CA245304 RCV000389057 |
248 | N>D | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001853831 RCV000664191 CA5609938 RCV001809677 rs757622521 |
259 | R>* | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5609947 RCV000988435 RCV001516039 RCV000326264 VAR_050475 rs701865 RCV000249739 |
270 | S>T | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000009318 rs267606937 CA119907 |
276 | R>* | Achromatopsia 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_079308 | 276 | R>del | ACHM5 [UniProt] | Yes | UniProt |
|
CA5609954 RCV000664197 rs762152984 RCV002529035 RCV000761207 |
279 | I>T | Achromatopsia 5 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000664195 rs1554888978 |
286 | K>missing | Achromatopsia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_062409 CA119899 rs121918538 RCV000009309 |
323 | Y>N | Achromatopsia 5 ACHM5; decreases cGMP phosphodiesterase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA5610004 rs758391651 RCV000298614 RCV000399348 RCV001230664 |
329 | E>A | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5610005 RCV000338325 RCV001207957 rs777483878 RCV000408180 |
335 | P>Q | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001074365 rs1403661741 |
363 | N>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079309 | 391 | P>L | ACHM5; severely decreases cGMP phosphodiesterase activity [UniProt] | Yes | UniProt |
|
CA5610117 rs746820022 RCV001073908 |
417 | H>R | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001106228 RCV002555036 RCV001105102 rs762249684 CA5610145 |
436 | T>S | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA119900 rs121918539 RCV000009312 VAR_062410 |
455 | M>V | Achromatopsia 5 ACHM5; decreases cGMP phosphodiesterase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000349132 CA5610219 rs779174659 RCV002522172 RCV000282504 |
502 | R>H | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1028838062 RCV001044021 RCV000664192 CA211539823 |
527 | R>* | Variant assessed as Somatic; 0.0 impact. Achromatopsia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000399098 RCV000314224 rs554790963 CA5610234 RCV001060326 |
527 | R>Q | Cone dystrophy 4 Variant assessed as Somatic; 0.0 impact. Achromatopsia [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000735778 rs1564801134 CA377618007 |
530 | F>S | Cone dystrophy 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001003118 rs766703340 CA211539830 |
532 | I>R | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001108450 RCV001108451 rs2058552494 |
543 | E>D | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143394832 RCV000664198 CA377618411 |
546 | T>N | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA212909 rs786200911 TCGA novel RCV000009320 |
561 | Y>* | Variant assessed as Somatic; impact. Achromatopsia 5 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar Ensembl dbSNP |
|
RCV001103272 RCV000968895 rs45522236 CA5610291 RCV000625372 |
585 | K>N | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001073906 rs2058556624 |
586 | Y>H | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_079310 rs267606934 CA119905 RCV000009317 |
602 | H>L | Achromatopsia 5 ACHM5; severely decreases cGMP phosphodiesterase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs878853345 RCV000225510 CA10581677 |
631 | E>G | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853346 RCV000225586 CA10581678 |
632 | R>W | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA279030 RCV000199969 rs863224908 RCV001054819 |
653 | L>P | Cone dystrophy 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs150112560 RCV001105189 RCV001106314 RCV000416160 CA222911 |
694 | M>I | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106315 rs41290222 RCV001482817 RCV001106316 CA5610394 |
696 | T>M | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000372284 RCV000324696 RCV000965812 rs12261131 CA5610398 VAR_050476 |
699 | E>A | Cone dystrophy 4 Cone dystrophy 4 (cod4) Achromatopsia [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16621606 RCV000487525 rs1064797148 RCV000664199 |
714 | I>N | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000664200 RCV002526931 CA377624953 rs1460255181 |
719 | M>T | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001858692 RCV000988436 CA377625102 rs1589705946 |
731 | W>* | Cone dystrophy 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA377627370 RCV000664201 rs1554892155 |
749 | G>E | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001108535 rs2058668455 RCV001108536 |
757 | Q>K | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000664202 CA377627907 rs1554892197 |
763 | M>T | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000664203 rs1554892199 CA377627970 |
765 | D>G | Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001074364 RCV001241959 rs1236291370 |
769 | R>* | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119903 rs267606936 RCV000009314 VAR_079311 |
790 | E>K | Achromatopsia 5 ACHM5; decreases cGMP phosphodiesterase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs768171384 RCV001103363 CA5610493 RCV001103364 |
796 | K>E | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2058673701 RCV001075121 |
809 | R>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119909 rs267606935 RCV000009319 |
819 | Y>* | Achromatopsia 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_079312 | 819 | Y>del | ACHM5 [UniProt] | Yes | UniProt |
|
VAR_025471 RCV001213628 RCV001105280 rs79487435 RCV001103366 CA5610502 |
822 | K>N | Cone dystrophy 4 Cone dystrophy 4 (cod4) Achromatopsia [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779769374 RCV000399831 RCV000339292 CA5610509 |
827 | E>D | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000245363 RCV001439901 RCV001105282 rs148661165 VAR_025472 RCV001105281 CA5610513 |
834 | E>G | Cone dystrophy 4 Cone dystrophy 4 (cod4) Achromatopsia [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5610514 RCV000248472 rs142876079 RCV001205632 RCV000361348 RCV000304274 |
835 | G>R | Cone dystrophy 4 Achromatopsia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5610516 COSM276693 RCV000393010 rs777275171 RCV001069466 RCV000304576 |
838 | E>K | Cone dystrophy 4 Variant assessed as Somatic; 0.0 impact. large_intestine Achromatopsia [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554888349 CA377621408 |
6 | Q>K | No |
ClinGen Ensembl |
|
|
CA5609750 rs141312777 |
7 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750739971 COSM921591 RCV001055092 CA5609753 |
9 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1286872320 CA377621434 |
10 | E>G | No |
ClinGen gnomAD |
|
|
rs951947945 CA211567879 |
11 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA377621451 RCV001232675 rs1012765041 CA211567883 |
12 | Y>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs780667399 CA5609755 |
16 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460337124 CA377621478 |
16 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196791389 CA377621490 |
18 | Q>R | No |
ClinGen gnomAD |
|
|
rs145053431 CA5609756 |
19 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377621503 rs1589690743 |
20 | A>S | No |
ClinGen Ensembl |
|
|
rs755079486 CA5609757 |
21 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160232679 CA377621545 |
25 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781628816 RCV000658572 CA5609758 |
29 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1589690756 CA377621590 |
32 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 34 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211567929 rs990285040 |
35 | E>D | No |
ClinGen TOPMed |
|
|
CA5609762 rs749075337 |
35 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377621616 rs1273686470 |
37 | F>V | No |
ClinGen TOPMed |
|
|
CA377621631 rs1217971434 |
39 | N>D | No |
ClinGen TOPMed |
|
|
rs199691209 CA5609764 |
40 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377621657 rs1271769381 |
42 | V>G | No |
ClinGen TOPMed |
|
|
CA5609766 rs759082069 RCV001320791 |
44 | V>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1240020599 CA377621688 |
47 | S>I | No |
ClinGen gnomAD |
|
|
rs566501091 CA211567979 CA377621697 |
48 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes gnomAD NCI-TCGA |
|
CA211567975 rs760329824 |
48 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA377621695 rs760329824 |
48 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377621694 rs760329824 |
48 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA211567988 rs535099102 |
54 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5609768 rs535099102 |
54 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767007825 RCV001298136 CA5609767 |
54 | T>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5609770 rs763733585 |
55 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763733585 CA5609771 |
55 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377621750 rs1490835026 |
57 | E>G | No |
ClinGen gnomAD |
|
|
CA377621784 rs1164078148 |
62 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA377621781 rs1394754478 |
62 | C>R | No |
ClinGen TOPMed |
|
|
CA377621783 rs1164078148 |
62 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA377621803 rs1385955277 |
65 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390359516 CA377621824 |
67 | W>R | No |
ClinGen gnomAD |
|
|
RCV000173397 rs568930062 CA238849 |
69 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA377621905 rs778007668 |
72 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475857643 CA377621892 |
72 | E>Q | No |
ClinGen gnomAD |
|
|
CA5609780 rs749089806 |
73 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA377621907 rs1264336692 |
73 | G>R | No |
ClinGen TOPMed gnomAD |
|
| rs770812539 | 74 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5609783 rs557957487 |
74 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5609782 rs557957487 |
74 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1184137007 CA377621930 |
75 | T>I | No |
ClinGen gnomAD |
|
|
rs1184137007 CA377621926 |
75 | T>N | No |
ClinGen gnomAD |
|
|
CA5609785 rs774984663 |
77 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169824243 CA377622026 RCV001237875 |
80 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs763675675 CA5609787 |
81 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1040611662 CA211568081 |
81 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs534132522 CA5609789 |
83 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 85 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2058399264 RCV001317599 |
85 | Q>P | No |
ClinVar dbSNP |
|
|
rs772318774 CA211568144 |
86 | R>S | No |
ClinGen Ensembl |
|
|
CA377622162 rs1229169743 |
87 | L>Q | No |
ClinGen gnomAD |
|
|
rs760127153 CA5609792 |
89 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264742811 CA377622233 |
91 | L>F | No |
ClinGen gnomAD |
|
|
rs1264742811 CA377622236 |
91 | L>I | No |
ClinGen gnomAD |
|
|
CA377622281 rs1482257148 |
93 | A>V | No |
ClinGen gnomAD |
|
|
rs12781149 CA377622310 |
94 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5609798 rs143356640 |
95 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143356640 CA5609799 |
95 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368555084 CA5609800 |
96 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1421844115 CA377622332 |
96 | C>G | No |
ClinGen gnomAD |
|
|
rs1477611102 CA377622336 |
96 | C>Y | No |
ClinGen gnomAD |
|
|
CA211568195 rs979715598 |
98 | M>V | No |
ClinGen Ensembl |
|
|
rs372972245 CA211568203 |
100 | L>P | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 101 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375795507 RCV001348076 CA5609804 |
102 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377622450 rs1441591017 |
102 | R>Q | No |
ClinGen TOPMed |
|
|
rs548437074 CA5609807 RCV001239156 |
104 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5609808 rs759933390 |
105 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA377622482 rs143619428 |
105 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753799663 RCV001238292 CA5609813 |
107 | I>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5609812 rs764217729 |
107 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA377622501 rs1261175342 |
107 | I>V | No |
ClinGen gnomAD |
|
|
rs779065446 CA377622515 |
108 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5609815 rs779065446 |
108 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757473047 CA5609814 |
108 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377622527 rs1416241436 |
109 | E>V | No |
ClinGen TOPMed |
|
|
rs560963943 CA211568267 |
111 | A>T | No |
ClinGen Ensembl |
|
|
rs758166605 CA5609817 |
113 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA211568278 rs1048987485 |
113 | R>S | No |
ClinGen gnomAD |
|
|
CA5609818 rs779895570 |
114 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1375610278 CA377622610 |
116 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377622604 rs1364937343 |
116 | D>Y | No |
ClinGen gnomAD |
|
|
rs886332434 CA211568284 |
118 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5609820 rs768420448 |
120 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768420448 CA377622650 |
120 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1398399059 CA377622686 |
123 | F>C | No |
ClinGen TOPMed |
|
|
CA5609821 rs780760282 |
123 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5609822 rs147367341 RCV001346662 |
124 | E>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5609823 rs769594772 |
126 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5609826 rs772556818 |
129 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1237833534 CA377622734 |
129 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377622733 rs1237833534 |
129 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377622743 rs1255116715 |
130 | P>L | No |
ClinGen TOPMed |
|
|
CA5609827 rs775916109 |
131 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223504572 RCV001349189 |
132 | K>N | No |
ClinVar dbSNP |
|
|
rs1564794122 CA377622763 |
133 | E>G | No |
ClinGen Ensembl |
|
|
rs761255161 CA5609828 |
137 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442117491 CA377622802 |
139 | D>G | No |
ClinGen gnomAD |
|
|
CA377622810 rs1157328604 |
140 | I>T | No |
ClinGen gnomAD |
|
|
rs150593293 CA211568389 |
142 | I>L | No |
ClinGen ESP |
|
|
rs750612919 CA5609833 |
142 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5609834 rs758248205 |
143 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA377622825 rs879202598 |
143 | V>L | No |
ClinGen gnomAD |
|
|
rs879202598 CA211568395 |
143 | V>M | No |
ClinGen gnomAD |
|
|
RCV001222399 rs533337383 CA5609835 |
144 | G>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs2058400784 RCV001043322 |
144 | G>C | No |
ClinVar dbSNP |
|
|
CA377622851 RCV001322563 rs1347821543 |
146 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs2058400858 RCV001203407 |
148 | H>Y | No |
ClinVar dbSNP |
|
|
CA211568426 rs139652451 |
149 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5609839 rs747712973 |
152 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377622951 rs755658134 |
153 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149739681 CA5609843 CA5609842 |
154 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775924148 CA5609844 |
155 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1346429453 CA377622964 |
155 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765296989 CA5609848 |
160 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA377625912 rs1186585692 |
161 | N>D | No |
ClinGen gnomAD |
|
|
CA211573473 rs371374089 |
161 | N>S | No |
ClinGen Ensembl |
|
|
CA377625919 rs371374089 |
161 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 162 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5609865 rs770220518 |
162 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5609866 rs202230942 |
163 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs2058440989 RCV001308155 |
165 | S>Y | No |
ClinVar dbSNP |
|
|
rs1416122174 CA377626026 |
167 | F>L | No |
ClinGen gnomAD |
|
|
CA5609868 rs200506932 RCV001314988 |
168 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5609869 rs774408368 |
169 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs972687833 CA211573492 |
170 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377626133 rs1206938395 |
172 | T>A | No |
ClinGen gnomAD |
|
|
rs1342671616 CA377626150 |
172 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1342671616 CA377626147 |
172 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759446618 CA5609870 |
173 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377626263 rs1185160252 |
179 | L>M | No |
ClinGen TOPMed |
|
|
CA377626281 rs1243047595 |
181 | A>T | No |
ClinGen TOPMed |
|
|
CA5609875 rs753424342 |
183 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs2058441485 RCV001232673 |
184 | I>N | No |
ClinVar dbSNP |
|
|
CA5609878 rs372506563 RCV001246202 |
185 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377626361 rs1478847637 |
186 | V>L | No |
ClinGen gnomAD |
|
|
rs369094542 CA5609881 |
187 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA377626445 rs1292709043 |
190 | V>A | No |
ClinGen TOPMed |
|
|
CA5609883 rs778229370 |
191 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5609884 rs749422574 |
192 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs749422574 CA5609885 COSM267154 |
192 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA377626511 rs1440496469 |
194 | I>T | No |
ClinGen TOPMed |
|
|
rs1398408640 CA377626534 |
195 | M>I | No |
ClinGen gnomAD |
|
|
rs1417733256 CA377626520 |
195 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377626550 rs1297759325 |
196 | A>G | No |
ClinGen gnomAD |
|
|
CA5609886 rs774688744 |
199 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs200445032 CA5609887 |
200 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1461980387 CA377626690 |
202 | A>S | No |
ClinGen TOPMed |
|
|
CA377626691 rs1461980387 |
202 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985529108 CA211573582 |
205 | F>L | No |
ClinGen Ensembl |
|
|
CA377626749 rs1169037887 |
205 | F>S | No |
ClinGen TOPMed |
|
|
CA377626816 rs1430794896 |
208 | Q>E | No |
ClinGen TOPMed |
|
|
CA211573593 rs554434639 |
209 | D>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 210 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377626983 rs1265495951 |
212 | V>D | No |
ClinGen gnomAD |
|
|
rs1395931295 CA377626979 |
212 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 215 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5609905 rs772449005 |
215 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377627094 rs1589693101 |
217 | L>I | No |
ClinGen Ensembl |
|
|
CA377627124 rs1458000995 |
218 | N>K | No |
ClinGen gnomAD |
|
|
CA5609906 rs775835078 |
219 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1464011373 CA377627220 |
221 | S>F | No |
ClinGen TOPMed |
|
|
rs1336988861 RCV001058858 CA377627231 |
222 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5609907 rs746842805 |
226 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV001247737 CA5609908 rs564848309 |
227 | H>Y | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA377627429 rs1407979316 |
229 | T>N | No |
ClinGen gnomAD |
|
|
rs1473910480 CA377627481 |
231 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA211573758 rs887059289 |
232 | M>I | No |
ClinGen TOPMed |
|
|
CA377627514 rs1390467989 |
232 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001303639 rs1051004545 CA211573750 |
232 | M>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA377627568 rs1466527826 |
234 | N>D | No |
ClinGen gnomAD |
|
|
rs766058431 CA5609913 |
238 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756525787 CA5609915 |
239 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs764375899 CA5609916 |
240 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA211573806 rs906202673 |
240 | S>T | No |
ClinGen TOPMed |
|
|
rs370504949 CA5609935 |
244 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377628078 RCV001044235 rs1198848724 |
245 | W>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA377628150 rs1196055366 |
248 | N>S | No |
ClinGen gnomAD |
|
|
rs1428224722 CA377628209 |
251 | F>L | No |
ClinGen gnomAD |
|
|
rs543093064 CA5609936 |
254 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1379943341 CA377628309 |
255 | T>I | No |
ClinGen gnomAD |
|
|
RCV001055439 CA5609937 rs762557292 |
256 | D>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1589693436 CA377628349 |
257 | V>A | No |
ClinGen Ensembl |
|
|
RCV001041884 rs1171515355 CA377628347 |
257 | V>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1401473851 CA377628408 |
259 | R>Q | No |
ClinGen gnomAD |
|
|
CA5609940 RCV001299124 rs143673530 |
264 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs151029989 CA5609942 RCV001345289 |
265 | L>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377628641 rs199926911 |
267 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1160965 CA5609944 RCV001246551 rs199926911 |
267 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5609945 rs199926911 |
267 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377628719 RCV001303940 rs701865 |
270 | S>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs150268540 CA5609948 |
270 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749234358 CA5609949 |
274 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5609950 rs770784784 |
274 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001316755 CA5609952 rs139251833 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5609953 rs775179463 |
277 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA377628928 rs1344288054 |
278 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377628999 rs1053554397 |
281 | L>P | No |
ClinGen TOPMed |
|
|
CA211574509 rs1053554397 |
281 | L>R | No |
ClinGen TOPMed |
|
|
rs750759291 CA5609956 |
284 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs112455473 CA5609955 |
284 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348723176 CA377630627 |
292 | D>E | No |
ClinGen TOPMed |
|
|
CA377630615 rs1315180804 |
292 | D>N | No |
ClinGen gnomAD |
|
|
rs763386959 CA5609974 |
293 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs398124218 CA222913 RCV000081365 |
296 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1233110611 CA377630676 |
296 | I>V | No |
ClinGen gnomAD |
|
|
rs1459501579 CA377630700 |
297 | K>N | No |
ClinGen gnomAD |
|
|
rs1241033540 CA377630727 |
300 | E>K | No |
ClinGen TOPMed |
|
|
rs143162788 CA5609975 |
302 | E>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA377630753 rs1227043444 |
302 | E>K | No |
ClinGen gnomAD |
|
|
rs752106542 CA5609976 |
303 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1483252847 CA377630776 |
303 | P>R | No |
ClinGen gnomAD |
|
|
RCV001230265 rs2058469600 |
304 | Y>N | No |
ClinVar dbSNP |
|
|
CA377630787 rs1564797317 |
304 | Y>S | No |
ClinGen Ensembl |
|
|
CA5609977 rs759590474 |
305 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752650713 CA5609979 |
306 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs767644884 CA5609978 |
306 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377630851 rs1335367092 RCV001211621 |
312 | G>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs756385811 CA5609980 |
313 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001297909 rs764343834 CA5609999 |
314 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs754057368 CA5610000 |
315 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001339533 rs374898557 CA5610002 |
316 | N>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377631541 rs1221399630 |
319 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 322 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377631599 rs1275925576 |
322 | D>Y | No |
ClinGen gnomAD |
|
|
rs547283077 CA211576952 |
325 | L>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750120472 CA5610003 |
326 | H>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000179460 rs369628525 CA246713 |
331 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5610006 rs777483878 RCV001056781 |
335 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs202016434 CA5610031 |
336 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs534544480 CA5610034 |
338 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780670758 CA5610033 |
338 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 341 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211577100 rs201268879 |
346 | S>C | No |
ClinGen Ensembl |
|
|
rs776725979 CA5610036 |
346 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5610037 rs761832974 |
347 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5610040 rs762863835 |
354 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5610041 rs766098565 |
356 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 358 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 362 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377632777 rs1432497522 |
363 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1311830766 CA377632787 |
364 | A>T | No |
ClinGen gnomAD |
|
|
rs769748176 CA5610056 |
364 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763089517 CA5610059 RCV001238373 |
366 | A>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5610058 rs763089517 |
366 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs556892228 CA5610062 CA5610064 RCV001230451 |
367 | D>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs759378752 CA5610061 |
367 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs141632582 COSM109638 CA211578641 |
368 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5610066 rs753326047 |
371 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5610067 rs756890941 |
372 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA377632877 rs1175132446 |
372 | F>S | No |
ClinGen TOPMed |
|
|
CA211578646 rs773230219 |
373 | Q>R | No |
ClinGen gnomAD |
|
|
rs1246031961 CA377612994 |
376 | P>R | No |
ClinGen gnomAD |
|
|
CA5610095 rs779339015 |
376 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772358173 CA5610097 |
377 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746108727 CA5610096 |
377 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5610099 rs148611776 |
379 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA211535647 rs879067314 |
380 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1423999180 CA377613136 |
382 | W>C | No |
ClinGen gnomAD |
|
|
CA5610102 rs776602508 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377613213 rs1168307813 |
386 | N>H | No |
ClinGen TOPMed |
|
|
rs1564799689 CA377613272 |
388 | L>S | No |
ClinGen Ensembl |
|
|
CA5610104 rs200108487 |
389 | S>C | No |
ClinGen 1000Genomes ExAC |
|
|
rs1244734540 CA377613294 |
390 | L>P | No |
ClinGen TOPMed |
|
|
rs772639930 CA5610105 |
391 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1469983140 CA377613357 |
392 | I>T | No |
ClinGen TOPMed |
|
|
rs141384587 RCV001300653 CA5610106 |
392 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001342270 rs1444531186 CA377613378 |
393 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1296489141 CA377613447 |
395 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260494284 CA377614391 |
403 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 403 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199948964 CA5610109 |
404 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA5610112 rs757784780 |
405 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs779140836 CA5610113 |
408 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 408 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309755491 CA377614433 |
409 | K>R | No |
ClinGen gnomAD |
|
|
rs866611156 COSM1702775 CA211535675 |
410 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs750495412 CA5610114 |
412 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377614457 rs1589697828 |
413 | P>T | No |
ClinGen Ensembl |
|
|
rs780401922 CA5610116 |
415 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1373239503 CA377614479 |
416 | E>Q | No |
ClinGen gnomAD |
|
|
CA377614495 rs1371198434 RCV001295045 |
417 | H>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 419 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202050878 CA5610119 |
421 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5610120 rs144591862 |
422 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377614580 rs1329506889 |
423 | E>K | No |
ClinGen TOPMed |
|
|
rs1429246300 CA377614696 |
424 | T>S | No |
ClinGen gnomAD |
|
|
CA211536246 rs867462630 |
425 | L>F | No |
ClinGen Ensembl |
|
|
CA377614838 rs759234276 |
429 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001302358 rs759234276 CA5610142 |
429 | L>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001064803 rs2058524059 |
431 | W>* | No |
ClinVar dbSNP |
|
|
rs771586674 CA377614889 CA5610143 |
431 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA377614922 rs1235925330 |
433 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1300591929 CA377614992 |
435 | N>S | No |
ClinGen gnomAD |
|
|
rs1286087339 CA377615027 |
437 | D>G | No |
ClinGen gnomAD |
|
|
CA5610146 rs765886352 |
438 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610148 rs150787836 |
440 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766495929 CA5610149 |
441 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377615175 rs1443481372 |
442 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs988497621 CA211536299 |
442 | M>T | No |
ClinGen TOPMed |
|
|
rs751550482 CA5610150 |
443 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA211536316 rs914910477 |
445 | L>P | No |
ClinGen TOPMed |
|
|
rs1410436651 CA377615261 |
446 | E>* | No |
ClinGen gnomAD |
|
|
CA5610152 RCV001052369 rs139309656 |
447 | N>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA211536324 rs867202963 |
447 | N>K | No |
ClinGen Ensembl |
|
|
rs752525221 CA5610154 |
449 | K>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000797148 CA5610153 rs752525221 |
449 | K>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 449 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377615399 rs1395909911 |
450 | D>G | No |
ClinGen gnomAD |
|
|
CA377615411 rs1443684767 |
451 | I>V | No |
ClinGen gnomAD |
|
|
CA211536333 rs752947586 |
453 | Q>E | No |
ClinGen TOPMed |
|
|
rs1323321727 CA377615474 |
454 | E>D | No |
ClinGen gnomAD |
|
|
rs1564799916 CA377615472 |
454 | E>G | No |
ClinGen Ensembl |
|
|
rs1369521059 CA377615486 |
455 | M>I | No |
ClinGen gnomAD |
|
|
rs777742297 CA5610155 |
457 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5610156 rs749234477 |
458 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5610157 rs757078676 |
459 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5610158 rs778520560 |
460 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5610159 rs745324761 |
460 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001339544 rs2058525039 |
460 | T>M | No |
ClinVar dbSNP |
|
|
CA5610164 rs372449060 |
464 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5610163 rs369136931 |
464 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377615716 rs1345281133 |
466 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1468772608 CA377615796 |
470 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5610186 rs772054761 |
474 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA377616123 rs1412741999 |
475 | E>G | No |
ClinGen gnomAD |
|
|
CA5610187 rs775479738 |
476 | K>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001041436 rs760921285 CA5610188 |
478 | N>K | No |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
|
CA211537641 rs1055909971 |
480 | D>E | No |
ClinGen TOPMed |
|
|
rs764255562 CA5610189 |
484 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 485 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032329598 CA377616264 |
485 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1032329598 CA211537651 |
485 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5610190 rs753686162 |
487 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs761486573 CA5610191 |
488 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377616323 rs1344539888 |
488 | K>R | No |
ClinGen TOPMed |
|
|
rs1209207495 CA377616353 |
490 | L>P | No |
ClinGen gnomAD |
|
|
rs139638257 CA5610192 RCV001040594 |
492 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1304143448 CA377616415 |
494 | L>V | No |
ClinGen TOPMed |
|
|
CA377617267 rs1455193378 |
496 | E>G | No |
ClinGen gnomAD |
|
|
rs931593515 CA211539694 |
496 | E>K | No |
ClinGen Ensembl |
|
|
rs1170932553 CA377617329 |
499 | P>L | No |
ClinGen gnomAD |
|
|
CA377617350 rs1404993233 |
500 | D>E | No |
ClinGen TOPMed |
|
|
CA5610217 rs752301568 |
501 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 501 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145216599 RCV001323544 CA5610218 |
502 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001325130 rs145216599 |
502 | R>G | No |
ClinVar dbSNP |
|
|
rs1300930111 CA377617395 |
504 | A>E | No |
ClinGen gnomAD |
|
|
CA211539720 rs377715415 |
505 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs1317710071 CA377617414 |
506 | L>M | No |
ClinGen gnomAD |
|
|
rs887365196 CA211539721 |
506 | L>Q | No |
ClinGen Ensembl |
|
|
CA5610221 rs746197485 |
507 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750031200 COSM172626 CA211539733 |
508 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5610222 rs780511565 |
510 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610223 rs747162323 |
510 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA377617635 rs1589699649 |
514 | F>I | No |
ClinGen Ensembl |
|
|
rs768709527 CA5610224 |
515 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768709527 CA5610225 |
515 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs770019421 CA5610227 |
516 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770019421 CA377617700 |
516 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs770019421 CA377617702 |
516 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1202970579 CA377617747 |
518 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 518 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5610228 rs772927831 |
519 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs267602622 CA5610231 |
520 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs267602621 CA5610230 CA211539788 |
520 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA211539803 rs267602622 |
520 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 521 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5610233 rs767137133 |
522 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs996893439 CA211539816 |
523 | K>R | No |
ClinGen TOPMed |
|
|
CA377617897 rs1292991479 |
524 | C>Y | No |
ClinGen gnomAD |
|
|
CA377617934 rs1374353987 |
526 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
CA377617937 rs1374353987 |
526 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs2058552244 RCV001341282 |
529 | F>C | No |
ClinVar dbSNP |
|
| TCGA novel | 530 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368857892 CA211539849 |
532 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV001312559 CA5610237 rs750797323 |
533 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA377618119 rs1589699695 |
534 | V>L | No |
ClinGen Ensembl |
|
|
rs780599757 CA5610239 |
535 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5610238 rs758761057 |
535 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235813 rs786205462 RCV000171186 |
538 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs956634026 CA211539855 |
539 | K>N | No |
ClinGen Ensembl |
|
|
rs747528678 CA5610240 |
541 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400794880 CA377618277 |
542 | V>I | No |
ClinGen TOPMed |
|
|
rs143394832 CA5610257 |
546 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751884839 CA5610258 |
548 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA377618454 rs755503558 |
549 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5610259 rs755503558 |
549 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389811259 CA377618491 |
551 | T>I | No |
ClinGen gnomAD |
|
|
rs147948935 CA211540142 |
555 | G>W | No |
ClinGen ESP |
|
|
CA5610261 rs781699886 |
557 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs201309785 CA5610262 |
557 | R>Q | Variant assessed as Somatic; 0.0007391 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs2058554091 RCV001316028 |
558 | A>G | No |
ClinVar dbSNP |
|
|
rs952628231 CA211540176 |
559 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777652595 CA5610263 |
559 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1290040673 CA377618619 |
563 | N>S | No |
ClinGen gnomAD |
|
|
rs1475889625 CA377618632 |
564 | W>* | No |
ClinGen gnomAD |
|
|
rs1051925 CA211540216 |
565 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5610265 rs771237873 |
565 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 567 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277937190 CA377618695 |
569 | N>D | No |
ClinGen gnomAD |
|
|
CA377618701 rs1441685797 |
569 | N>S | No |
ClinGen gnomAD |
|
|
CA211540232 rs1013418869 |
570 | V>M | No |
ClinGen gnomAD |
|
|
rs1024606564 CA211540233 |
573 | T>I | No |
ClinGen Ensembl |
|
|
rs775494689 CA5610269 |
576 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1383843538 CA377618815 |
577 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA377618832 rs1247424607 |
578 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1454882369 CA377618854 |
579 | M>I | No |
ClinGen gnomAD |
|
|
rs1395846616 CA377618941 |
581 | G>E | No |
ClinGen gnomAD |
|
|
RCV001344781 rs2058556639 |
587 | Y>H | No |
ClinVar dbSNP |
|
|
rs772835741 CA5610293 |
588 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001246317 rs2058556736 |
589 | D>G | No |
ClinVar dbSNP |
|
|
rs2058556721 RCV001208728 |
589 | D>Y | No |
ClinVar dbSNP |
|
| TCGA novel | 590 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752963712 CA377619101 |
591 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs752963712 RCV001035830 COSM1702777 CA5610296 |
591 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs761267165 CA5610297 |
592 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211540658 rs925939510 |
594 | A>S | No |
ClinGen Ensembl |
|
|
rs1589700003 CA377619180 |
595 | M>I | No |
ClinGen Ensembl |
|
|
CA5610300 rs757410457 |
595 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5610301 rs765614927 |
597 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs267606934 CA377619693 |
602 | H>R | No |
ClinGen gnomAD |
|
|
CA211540672 rs200837696 |
604 | I>T | No |
ClinGen 1000Genomes |
|
|
CA5610303 rs368058447 |
607 | R>S | No |
ClinGen ESP ExAC |
|
|
CA377619820 rs1476452820 |
608 | G>S | No |
ClinGen gnomAD |
|
|
rs1160956775 CA377619863 |
610 | N>S | No |
ClinGen gnomAD |
|
|
rs942671862 RCV001054648 CA211540678 |
611 | N>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA377619920 rs1361823125 |
612 | L>F | No |
ClinGen TOPMed |
|
|
CA377619932 rs1330554080 |
613 | Y>H | No |
ClinGen gnomAD |
|
|
CA377620760 rs1394051423 |
618 | T>A | No |
ClinGen gnomAD |
|
|
CA5610325 rs754752450 COSM921602 |
618 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1409100058 RCV001327767 CA377620863 |
624 | L>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1299872494 CA377620895 |
626 | G>D | No |
ClinGen gnomAD |
|
|
rs140801294 CA5610329 |
629 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281294413 CA377620956 |
631 | E>K | No |
ClinGen gnomAD |
|
|
rs770655209 CA5610331 |
632 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5610333 rs747466783 |
635 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377621081 rs1448034850 |
637 | Y>C | No |
ClinGen gnomAD |
|
|
rs1431931284 CA377621121 |
639 | K>R | No |
ClinGen TOPMed |
|
|
CA5610334 rs769156916 |
640 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377621169 rs1396499122 |
642 | L>S | No |
ClinGen gnomAD |
|
|
CA377621180 rs1464388983 |
643 | Q>K | No |
ClinGen gnomAD |
|
|
CA377621199 rs765794833 |
645 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5610336 rs369766290 |
645 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5610337 rs765794833 |
645 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs786205463 RCV000171187 CA235815 |
649 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs370842108 CA5610354 |
652 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770918079 CA240728 COSM466106 RCV000175062 |
656 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5610355 rs376438891 |
656 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377623005 rs1202204244 |
657 | Q>* | No |
ClinGen TOPMed |
|
|
CA5610358 rs759772837 |
659 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA377623038 rs1250795539 |
659 | E>K | No |
ClinGen gnomAD |
|
|
CA5610359 RCV001044080 rs767703174 |
660 | T>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs752529153 CA5610360 |
662 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165575586 CA377623074 |
664 | L>M | No |
ClinGen gnomAD |
|
|
CA5610363 rs764148537 |
665 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs542292048 COSM1349876 CA5610364 |
666 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs749904752 CA5610366 |
668 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034009149 CA211550725 |
668 | A>V | No |
ClinGen Ensembl |
|
|
rs1286790904 CA377623111 |
669 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 673 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779825105 CA5610368 |
673 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377624427 rs1303410846 |
680 | K>R | No |
ClinGen TOPMed |
|
|
CA5610389 rs778017428 |
681 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 683 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001343936 rs1167023429 CA377624505 |
683 | M>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA377624612 rs1389752250 |
687 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 687 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377624651 rs1299735838 |
689 | D>E | No |
ClinGen TOPMed |
|
|
CA5610390 rs757744343 |
690 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001235501 CA5610391 rs779387187 |
690 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5610392 rs746003348 |
691 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs2058653541 RCV001230175 |
694 | M>T | No |
ClinVar dbSNP |
|
|
CA5610393 rs772151989 |
694 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs41290222 CA377624771 |
696 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768875501 CA5610397 |
697 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776444648 RCV001317909 |
699 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 699 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2058653756 RCV001230107 |
700 | A>T | No |
ClinVar dbSNP |
|
|
RCV001208079 rs769738331 |
709 | T>missing | No |
ClinVar dbSNP |
|
|
rs138155777 CA211552251 |
709 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377624875 rs1466343940 |
710 | K>N | No |
ClinGen gnomAD |
|
|
rs762930060 COSM921603 CA5610404 |
712 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA377624898 RCV001248392 rs1484346228 |
713 | I>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1483600092 CA377624909 |
715 | M>T | No |
ClinGen TOPMed |
|
|
rs200914002 CA211552360 |
718 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1245195235 CA377624944 |
718 | M>T | No |
ClinGen gnomAD |
|
|
rs200914002 CA5610426 |
718 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5610427 RCV001208758 rs776912070 |
720 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA377624972 rs1414867743 |
722 | C>Y | No |
ClinGen gnomAD |
|
|
rs773098954 CA5610430 |
727 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5610432 rs770966082 |
729 | K>N | No |
ClinGen ExAC TOPMed |
|
|
CA5610433 rs773770502 |
730 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377625126 rs1484618102 |
732 | E>G | No |
ClinGen TOPMed |
|
|
rs774331419 CA5610451 |
738 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1408988078 CA377627150 |
740 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5610452 rs759332523 RCV001321595 |
741 | V>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA377627173 rs1342170877 |
742 | A>T | No |
ClinGen gnomAD |
|
|
CA5610453 rs771615643 |
746 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA377627362 rs1282460312 |
749 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 749 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324956034 CA377627427 |
751 | L>M | No |
ClinGen gnomAD |
|
|
CA211553697 rs375320273 |
752 | E>G | No |
ClinGen ESP |
|
|
CA377627578 rs1358997637 |
756 | L>W | No |
ClinGen gnomAD |
|
|
rs1277017995 CA377627648 |
759 | Q>E | No |
ClinGen gnomAD |
|
|
rs917455690 CA211553704 |
760 | P>L | No |
ClinGen TOPMed |
|
|
rs774822052 CA5610454 |
761 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377627889 rs1323777397 |
762 | P>L | No |
ClinGen TOPMed |
|
|
rs201509952 CA5610471 |
763 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377627957 rs1187679872 |
764 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1589707109 CA377627941 |
764 | M>V | No |
ClinGen Ensembl |
|
|
rs916257726 CA377627974 |
765 | D>E | No |
ClinGen Ensembl |
|
|
rs1189910547 CA377627979 |
766 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 767 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5610472 rs376305734 |
767 | N>K | No |
ClinGen ESP ExAC |
|
|
CA377628027 rs1564806790 |
769 | R>G | No |
ClinGen Ensembl |
|
|
CA377628029 rs1390573149 |
769 | R>K | No |
ClinGen gnomAD |
|
|
rs1199305248 CA377628097 |
771 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377628202 rs1379094472 |
775 | L>R | No |
ClinGen gnomAD |
|
|
rs761399272 CA5610475 |
778 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs370735323 CA5610477 |
780 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377628387 rs1322595249 |
781 | D>Y | No |
ClinGen gnomAD |
|
|
rs867597289 CA211554047 |
783 | V>L | No |
ClinGen Ensembl |
|
|
CA377628514 rs1451804778 |
784 | C>S | No |
ClinGen TOPMed |
|
|
CA211554049 rs1051293364 |
785 | T>I | No |
ClinGen Ensembl |
|
|
CA377628556 rs1161628199 |
785 | T>S | No |
ClinGen gnomAD |
|
|
CA5610479 rs760134905 |
786 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302235355 CA377628607 |
787 | V>A | No |
ClinGen gnomAD |
|
|
rs779852612 CA5610491 |
793 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs776056402 CA5610494 |
796 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315881394 CA377629174 |
803 | S>G | No |
ClinGen gnomAD |
|
|
CA377629179 rs1564806921 COSM921605 |
803 | S>N | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs142641759 CA377629194 CA211554229 |
803 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV001202540 CA377629203 rs1266890004 |
804 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA377629258 rs1221473044 |
807 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs370273241 CA5610495 |
808 | N>D | No |
ClinGen ESP ExAC |
|
|
rs912743767 CA211554235 |
808 | N>K | No |
ClinGen Ensembl |
|
|
rs1039997248 CA211554242 |
809 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs939852854 CA211554245 |
810 | V>G | No |
ClinGen TOPMed |
|
|
CA377629325 rs1483906470 |
811 | E>D | No |
ClinGen gnomAD |
|
|
CA377629312 rs1564806944 |
811 | E>Q | No |
ClinGen Ensembl |
|
|
CA5610497 rs774815378 |
812 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180015498 CA377629336 |
812 | W>* | No |
ClinGen gnomAD |
|
|
rs2058673911 RCV001339892 |
817 | D>missing | No |
ClinVar dbSNP |
|
|
CA377629450 rs1370446126 |
819 | Y>H | No |
ClinGen gnomAD |
|
|
rs1381923913 CA377629477 |
820 | D>E | No |
ClinGen gnomAD |
|
|
CA377629475 rs1422900465 |
820 | D>V | No |
ClinGen gnomAD |
|
|
CA377629488 rs1163350371 |
821 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs2058674018 RCV001303105 |
821 | A>T | No |
ClinVar dbSNP |
|
|
rs1163350371 CA377629490 |
821 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA211554272 rs896165044 |
823 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs753918872 CA5610504 |
823 | M>T | No |
ClinGen ExAC |
|
|
RCV001061687 rs757548896 |
825 | V>F | No |
ClinVar dbSNP |
|
|
rs757548896 CA5610505 |
825 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211554275 rs765346660 |
826 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5610508 rs758116589 |
826 | I>M | No |
ClinGen ExAC gnomAD |
|
| VAR_064744 | 826 | I>S | found in a renal cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA5610507 rs199790457 |
826 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765346660 CA5610506 |
826 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA211554287 rs1002966034 |
827 | E>K | No |
ClinGen gnomAD |
|
|
CA5610510 rs746955848 RCV001041896 |
829 | E>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1244865919 CA377629613 |
829 | E>K | No |
ClinGen gnomAD |
|
|
rs754875058 CA5610511 |
830 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467953620 CA377629681 RCV000994479 |
833 | Q>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs757524417 | 834 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183291315 CA377629782 |
839 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs150628691 CA5610517 |
840 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 840 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781098414 CA5610531 |
840 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185158929 CA377630875 |
841 | A>T | No |
ClinGen gnomAD |
|
|
CA5610533 rs372346298 |
842 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178923344 CA377630935 |
844 | S>A | No |
ClinGen gnomAD |
|
|
CA377630946 COSM1741959 rs1404516040 |
845 | G>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA377630982 rs1284459688 |
848 | D>G | No |
ClinGen TOPMed |
|
|
rs1468856351 CA377630990 |
849 | D>N | No |
ClinGen gnomAD |
|
|
CA377631073 rs1320596390 |
854 | T>I | No |
ClinGen gnomAD |
|
|
CA377631108 rs1390386517 |
857 | M>T | No |
ClinGen gnomAD |
2 associated diseases with P51160
[MIM: 613093]: Cone dystrophy 4 (COD4)
An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269|PubMed:19615668}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613093]: Achromatopsia 5 (ACHM5)
A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. {ECO:0000269|PubMed:19615668, ECO:0000269|PubMed:21127010, ECO:0000269|PubMed:28583373}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269|PubMed:19615668}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. {ECO:0000269|PubMed:19615668, ECO:0000269|PubMed:21127010, ECO:0000269|PubMed:28583373}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P51160
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 65 - 193 | IPR000210 |
| repeat | Ankyrin repeat | 293 - 323 | IPR002110-1 |
| repeat | Ankyrin repeat | 327 - 356 | IPR002110-2 |
| domain | NPR1/NIM1-like, C-terminal | 369 - 571 | IPR021094 |
| domain | Regulatory protein NPR, central domain | 230 - 270 | IPR024228 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.35 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-GMP phosphodiesterase activity | Catalysis of the reaction: 3',5'-cyclic GMP + H2O = GMP + H+. |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate. |
| cGMP binding | Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate). |
| metal ion binding | Binding to a metal ion. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| phototransduction, visible light | The sequence of reactions within a cell required to convert absorbed photons from visible light into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. |
| retinal cone cell development | Development of a cone cell, one of the sensory cells in the eye that reacts to the presence of light. Cone cells contain the photopigment iodopsin or cyanopsin and are responsible for photopic (daylight) vision. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
34 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28156 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Bos taurus (Bovine) | SS |
| P23439 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Bos taurus (Bovine) | PR |
| P52731 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Gallus gallus (Chicken) | PR |
| H2QL32 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Pan troglodytes (Chimpanzee) | PR |
| Q9W4T4 | dnc | 3',5'-cyclic-AMP phosphodiesterase, isoform I | Drosophila melanogaster (Fruit fly) | SS |
| Q9VJ79 | Pde11 | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11 | Drosophila melanogaster (Fruit fly) | SS |
| O60658 | PDE8A | High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A | Homo sapiens (Human) | PR |
| P27815 | PDE4A | cAMP-specific 3',5'-cyclic phosphodiesterase 4A | Homo sapiens (Human) | EV SS |
| Q07343 | PDE4B | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Homo sapiens (Human) | EV SS |
| Q08493 | PDE4C | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Homo sapiens (Human) | EV SS |
| Q08499 | PDE4D | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Homo sapiens (Human) | EV |
| O76083 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Homo sapiens (Human) | PR |
| P54750 | PDE1A | Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A | Homo sapiens (Human) | PR |
| Q9Y233 | PDE10A | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Homo sapiens (Human) | PR |
| Q9HCR9 | PDE11A | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Homo sapiens (Human) | SS |
| P35913 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Homo sapiens (Human) | PR |
| O76074 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Homo sapiens (Human) | EV |
| P23440 | Pde6b | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Mus musculus (Mouse) | PR |
| O89084 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Mus musculus (Mouse) | SS |
| O70628 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Mus musculus (Mouse) | PR |
| Q8CG03 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Mus musculus (Mouse) | SS |
| Q8CA95 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Mus musculus (Mouse) | PR |
| P0C1Q2 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Mus musculus (Mouse) | SS |
| Q3UEI1 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Mus musculus (Mouse) | PR |
| Q01063 | Pde4d | 3',5'-cyclic-AMP phosphodiesterase 4D | Mus musculus (Mouse) | SS |
| Q8QZV1 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Rattus norvegicus (Rat) | PR |
| P14646 | Pde4b | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Rattus norvegicus (Rat) | SS |
| Q8VID6 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Rattus norvegicus (Rat) | SS |
| O54735 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Rattus norvegicus (Rat) | SS |
| P14644 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Rattus norvegicus (Rat) | PR |
| P54748 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Rattus norvegicus (Rat) | SS |
| Q9QYJ6 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Rattus norvegicus (Rat) | PR |
| P14270 | Pde4d | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Rattus norvegicus (Rat) | PR |
| Q22000 | pde-4 | Probable 3',5'-cyclic phosphodiesterase pde-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEINQVAVE | KYLEENPQFA | KEYFDRKLRV | EVLGEIFKNS | QVPVQSSMSF | SELTQVEESA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LCLELLWTVQ | EEGGTPEQGV | HRALQRLAHL | LQADRCSMFL | CRSRNGIPEV | ASRLLDVTPT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKFEDNLVGP | DKEVVFPLDI | GIVGWAAHTK | KTHNVPDVKK | NSHFSDFMDK | QTGYVTKNLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ATPIVVGKEV | LAVIMAVNKV | NASEFSKQDE | EVFSKYLNFV | SIILRLHHTS | YMYNIESRRS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QILMWSANKV | FEELTDVERQ | FHKALYTVRS | YLNCERYSIG | LLDMTKEKEF | YDEWPIKLGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VEPYKGPKTP | DGREVNFYKI | IDYILHGKEE | IKVIPTPPAD | HWTLISGLPT | YVAENGFICN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MMNAPADEYF | TFQKGPVDET | GWVIKNVLSL | PIVNKKEDIV | GVATFYNRKD | GKPFDEHDEY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ITETLTQFLG | WSLLNTDTYD | KMNKLENRKD | IAQEMLMNQT | KATPEEIKSI | LKFQEKLNVD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VIDDCEEKQL | VAILKEDLPD | PRSAELYEFR | FSDFPLTEHG | LIKCGIRLFF | EINVVEKFKV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PVEVLTRWMY | TVRKGYRAVT | YHNWRHGFNV | GQTMFTLLMT | GRLKKYYTDL | EAFAMLAAAF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CHDIDHRGTN | NLYQMKSTSP | LARLHGSSIL | ERHHLEYSKT | LLQDESLNIF | QNLNKRQFET |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VIHLFEVAII | ATDLALYFKK | RTMFQKIVDA | CEQMQTEEEA | IKYVTVDPTK | KEIIMAMMMT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ACDLSAITKP | WEVQSQVALM | VANEFWEQGD | LERTVLQQQP | IPMMDRNKRD | ELPKLQVGFI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DFVCTFVYKE | FSRFHKEITP | MLSGLQNNRV | EWKSLADEYD | AKMKVIEEEA | KKQEGGAEKA |
| 850 | |||||
| AEDSGGGDDK | KSKTCLML |