P35913
PR
Gene name |
PDE6B |
Protein name |
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta |
Names |
GMP-PDE beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5158 |
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
1 structures for P35913
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P35913-F1 | Predicted | AlphaFoldDB |
962 variants for P35913
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000504868 rs781003757 |
1 | M>V | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140441389 RCV001243720 CA2793822 RCV002568571 |
9 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2793831 rs201287238 RCV002563810 RCV001234218 |
19 | A>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001301724 CA2793834 rs781251175 RCV001151130 RCV001151131 |
20 | R>H | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2793841 RCV002489380 rs148829093 RCV000964955 |
34 | A>V | Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA355906178 rs1208473466 RCV001151134 RCV002559458 RCV001154204 |
37 | E>G | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001151133 rs376908835 RCV002032394 RCV003163338 RCV001151132 CA2793844 |
37 | E>K | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Inborn genetic diseases Congenital stationary night blindness autosomal dominant 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001257810 rs1734056711 |
41 | P>missing | Autosomal recessive retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200297 RCV000173098 RCV001518969 RCV000337389 rs199974771 RCV000398223 |
44 | C>W | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2793852 RCV000341531 RCV000298325 rs138423108 RCV001320505 |
45 | D>N | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000396544 RCV000611751 RCV000301702 RCV000086942 CA228883 rs113842820 |
48 | R>Q | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs79826315 RCV000358857 RCV000127395 CA292718 RCV000439432 RCV000271035 |
49 | D>Y | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000309731 RCV001861233 RCV000362223 CA2793860 rs149359860 |
57 | T>M | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1734061767 RCV001199503 RCV001293396 |
60 | L>missing | Retinitis pigmentosa Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117739 CA2793865 rs767438881 RCV001075048 |
61 | E>* | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000269946 RCV001211414 CA2793868 RCV000334160 rs200079698 |
68 | E>D | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs750147338 RCV000787645 |
70 | I>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144590560 RCV001040277 RCV001156703 VAR_009283 CA2793876 RCV001156702 |
74 | R>C | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa (rp) RP40; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1734066547 RCV001199506 |
75 | V>missing | Cone-rod dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1734066308 RCV001293397 |
75 | V>missing | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553801591 RCV000013987 |
83 | L>missing | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876657718 RCV000220232 CA10576636 RCV001390110 RCV000225461 |
97 | Y>* | Retinitis pigmentosa Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001856211 CA2793900 rs776050413 RCV000787646 |
98 | R>H | Congenital stationary night blindness [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs537263212 RCV001151257 RCV002070830 RCV001151256 CA2793903 |
100 | R>C | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs555600300 VAR_068361 RCV000779449 CA238578 RCV000173097 RCV001156704 RCV001376247 |
100 | R>H | Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa (rp) RP40 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001075109 rs1734075026 |
105 | E>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA220605 rs398123299 RCV000078554 RCV001074335 RCV000778735 RCV001151258 |
105 | E>K | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 Retinal dystrophy Retinitis pigmentosa (rp) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs189172362 RCV002032423 RCV001154323 CA2793914 RCV001154324 |
115 | P>L | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000959565 RCV000336454 RCV000320551 rs28414606 RCV000279181 CA2793920 |
125 | P>A | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2793928 rs752303143 RCV000339519 RCV000405340 |
129 | E>D | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2793926 RCV001873210 RCV001198798 RCV001073444 RCV000787647 rs749657417 |
129 | E>K | Retinitis pigmentosa Retinitis pigmentosa 40 Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000487749 RCV001724026 CA2793936 rs781658083 |
137 | G>R | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001003114 CA355907184 RCV001860529 rs759382635 |
143 | A>D | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2793978 RCV001436063 RCV000332008 RCV000288636 rs574098823 RCV000785739 |
161 | S>N | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs115775983 CA2793981 RCV000958533 RCV000350373 RCV000406027 VAR_009284 |
166 | E>K | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000626650 CA2793990 CA2793989 rs368094720 RCV001197585 |
182 | N>K | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA2793998 RCV001197051 rs138615156 |
187 | V>M | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000678597 rs1212998897 CA355908338 |
195 | K>* | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000488132 RCV000987384 RCV000078556 CA145993 VAR_009286 RCV001151689 rs62295357 |
219 | Y>H | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 RP40; autosomal recessive [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_009287 | 228 | L>H | RP40; autosomal recessive and autosomal dominant [UniProt] | Yes | UniProt |
|
CA2794053 VAR_009288 RCV000282880 RCV000379626 RCV001340998 rs201584824 |
228 | L>I | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs201593198 RCV001075134 CA2794054 RCV001373842 |
232 | E>K | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001241170 rs752852029 RCV000406399 CA2794055 RCV000340461 |
233 | T>M | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000504695 CA2794105 RCV001543444 rs780521818 RCV001376332 RCV000377308 |
247 | F>I | Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001039864 CA2794113 rs766492141 RCV002551458 |
257 | F>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA122842 RCV000013986 VAR_009289 rs121918582 |
258 | H>N | Congenital stationary night blindness autosomal dominant 2 CSNBAD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1735848896 RCV001073265 |
258 | H>Q | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2794117 RCV001154830 RCV001154829 rs761281062 RCV001225840 RCV002557324 |
263 | T>A | Retinitis pigmentosa Inborn genetic diseases Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000178068 CA245084 RCV000346036 RCV000288799 rs144562730 |
265 | R>Q | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA355911385 RCV001075156 RCV001061541 RCV001724224 RCV001257887 RCV001543162 rs145605739 |
270 | C>* | Autosomal recessive retinitis pigmentosa Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1365261261 RCV001065290 RCV001075292 |
271 | E>G | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000595342 rs374156343 CA2794132 RCV001075665 |
271 | E>K | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001318188 CA2794133 RCV002543745 rs150497650 |
272 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746141070 RCV000678598 RCV001725195 RCV001073753 |
279 | D>missing | Retinitis pigmentosa 40 Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064797304 RCV000488380 CA16621814 RCV001199718 RCV001293398 |
296 | E>* | Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 Leber congenital amaurosis [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121918579 RCV000013982 RCV001074585 RCV000504946 RCV000627220 CA256715 |
298 | Q>* | Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA245910 RCV000331462 rs146646008 RCV000178746 RCV001699056 RCV000276359 |
302 | G>D | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000327738 CA2794178 RCV000382287 RCV001244128 rs145756948 |
309 | R>Q | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000287962 RCV001341650 rs886059543 CA10619044 RCV000324291 |
311 | I>T | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000987385 RCV001544040 RCV000153663 rs10902758 RCV001544041 VAR_054868 CA180274 RCV001515392 |
320 | V>I | Retinitis pigmentosa Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001394923 CA2794239 rs140224236 RCV001154093 RCV001154092 |
323 | G>S | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001154095 RCV001154094 rs1736021671 |
329 | V>A | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257885 rs1736178477 RCV002570627 |
337 | H>R | Autosomal recessive retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560121685 RCV000678592 |
348 | V>missing | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2794296 RCV001053363 RCV002553755 rs201953373 |
350 | E>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001073260 rs1736334634 |
388 | I>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001074864 rs1736345541 |
409 | P>R | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000361712 RCV001861237 rs539768252 RCV000267066 CA2794445 |
433 | D>N | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001199501 rs1736425011 RCV001293400 |
464 | Q>* | Retinitis pigmentosa Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000895003 rs143908642 CA2794512 RCV001151137 RCV001151136 |
472 | R>C | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003115 rs1577288305 |
473 | L>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295511 rs375032863 RCV002543038 CA2794515 |
474 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000279112 CA2794516 RCV001361710 rs746783836 RCV000373646 |
476 | E>K | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA91085635 RCV001074963 rs978566517 |
477 | P>T | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs139369984 RCV001151138 RCV001858987 RCV001154205 CA2794529 |
487 | E>K | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001238372 RCV000505033 rs1360937549 |
496 | P>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880317 RCV000013984 |
497 | T>missing | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398123298 RCV001376462 RCV000174237 |
514 | L>missing | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA355916145 rs1553812554 RCV000504664 |
516 | L>P | Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000481387 CA2794573 RCV001074334 rs369561957 |
518 | K>I | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000132574 RCV001857472 rs527236091 CA270008 |
526 | E>K | Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001154208 VAR_009290 RCV000427120 rs760766981 CA2794577 RCV000845026 RCV000504854 |
527 | L>P | Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 Retinitis pigmentosa (rp) RP40; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs121918580 RCV001546523 RCV000013983 CA256717 |
531 | R>* | Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1540548 RCV000294425 RCV001240311 rs144664551 RCV000349329 RCV003168538 CA2794585 |
531 | R>Q | lung Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Inborn genetic diseases Congenital stationary night blindness autosomal dominant 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_009291 rs527236088 RCV000132575 RCV002250571 RCV001857473 CA270010 |
535 | I>N | Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 RP40; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM1220026 RCV001053317 rs760042062 CA2794623 RCV001074240 RCV002479325 |
542 | R>W | large_intestine Congenital stationary night blindness autosomal dominant 2 Retinal dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1577296602 RCV000787643 |
552 | R>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2794628 rs751859807 RCV001238457 VAR_009292 |
552 | R>Q | RP40; autosomal recessive [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA2794629 RCV001293402 rs755577875 |
556 | Y>C | Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs536742386 RCV000850087 CA355916903 RCV000787860 |
557 | H>R | Progressive cone dystrophy (without rod involvement) [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001851841 rs121918581 VAR_006050 RCV000132576 CA256720 RCV000013985 |
557 | H>Y | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 RP40; autosomal dominant [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000201856 RCV000505045 CA277821 RCV001075447 RCV001853246 rs201541131 |
560 | R>C | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 Retinal dystrophy Retinitis pigmentosa (rp) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs774268095 RCV000174465 CA240006 RCV001376288 |
562 | G>D | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001234473 RCV001724153 RCV001075255 CA2794635 RCV000779450 rs772057239 |
567 | Q>* | Retinitis pigmentosa PDE6B-Related Disorders Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001155047 rs369980987 RCV001046319 RCV001155046 CA2794637 |
568 | T>M | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001206651 CA2794640 rs761619791 RCV001074863 |
571 | T>M | Variant assessed as Somatic; 0.0 impact. Retinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_006051 | 576 | G>D | RP40; autosomal recessive [UniProt] | Yes | UniProt |
|
rs1263635426 RCV001267691 CA355917271 |
581 | Y>C | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1737229618 RCV001199502 RCV001293403 |
582 | Y>H | Retinitis pigmentosa Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001723748 RCV000174671 RCV001075150 CA240231 rs766049601 |
594 | G>V | Retinitis pigmentosa Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752846577 CA2794685 RCV001156706 RCV001301231 RCV001156707 |
602 | R>H | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001155050 rs754298498 CA2794684 RCV001155051 |
602 | R>S | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2794688 rs752738349 RCV001314935 RCV000490521 |
604 | T>I | Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001156709 RCV001156708 rs752738349 |
604 | T>S | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1737239664 RCV001073937 RCV001862525 |
604 | T>S | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747970185 RCV001387644 RCV001073895 |
614 | N>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485804 RCV001073653 rs769671323 |
620 | H>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371908618 RCV001314210 CA355917798 RCV001075130 CA2794734 |
620 | H>Q | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001198799 rs1737315492 |
620 | H>R | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758052437 RCV000210313 CA351434 |
626 | E>* | Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001199504 CA2794740 rs371911345 RCV002549228 RCV001322860 |
627 | R>G | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003163757 RCV001225669 CA2794748 rs767873714 |
638 | S>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1560134806 RCV000678594 |
643 | N>missing | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869312177 RCV000504752 RCV001008764 RCV000210328 |
643 | N>missing | Retinitis pigmentosa Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1737428529 RCV001075361 |
643 | N>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002246264 RCV001267698 rs1325957874 |
643 | N>missing | Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002554727 RCV001074559 rs1737429976 |
645 | Y>* | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002523475 RCV000344856 rs768939011 CA2794787 RCV000402966 |
649 | N>D | Retinitis pigmentosa Inborn genetic diseases Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001074165 RCV001724236 rs373037737 RCV001376495 RCV002497489 CA2794791 RCV001382538 |
652 | Q>* | Retinitis pigmentosa Retinitis pigmentosa 40 (rp40) Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779474710 RCV001151262 RCV001054297 RCV001151261 CA2794799 |
666 | A>T | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1737442897 RCV001293404 RCV001199505 |
668 | D>G | Retinitis pigmentosa Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2794835 rs149423059 CA91090640 RCV000732337 RCV003165985 |
687 | K>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_006052 | 699 | L>R | RP40; autosomal recessive [UniProt] | Yes | UniProt |
|
RCV001067889 RCV000262459 RCV000356608 rs149880099 CA2794844 |
700 | S>T | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2794854 rs746552548 RCV001075337 |
706 | K>* | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1737503567 RCV001388286 RCV001073497 |
706 | K>* | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000845027 RCV001074241 CA2794908 RCV001387025 rs751413984 |
714 | M>L | Retinitis pigmentosa 40 Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2794910 rs142936195 RCV001208664 RCV002480684 |
717 | C>Y | Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000277605 rs150639487 RCV000297097 CA2794912 RCV002286728 RCV000332675 |
718 | D>N | Retinitis pigmentosa Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349794 rs150639487 CA2794913 RCV001073463 |
718 | D>Y | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000387116 rs886059546 CA10621522 RCV000292745 |
725 | P>L | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199521106 CA2794998 RCV000931351 RCV000303010 RCV000392694 |
765 | A>P | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_068362 CA2795009 RCV000404018 RCV001091293 rs141563823 RCV000678595 RCV000339477 |
776 | D>N | Retinitis pigmentosa Retinitis pigmentosa 40 Congenital stationary night blindness autosomal dominant 2 RP40 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001376297 rs775321796 RCV001058125 CA2795011 |
778 | V>M | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA241888 RCV000314427 RCV000176031 rs145124626 RCV000259243 |
782 | V>M | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002539381 RCV000888684 CA2795041 RCV001074333 rs74411086 |
791 | E>K | Inborn genetic diseases Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745856717 RCV001862593 RCV001075093 CA2795043 |
796 | M>T | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000987387 CA91094843 rs970990957 RCV000760503 |
799 | R>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000678596 rs771338607 CA2795051 |
803 | N>D | Retinitis pigmentosa 40 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs760105867 CA10619051 RCV000271339 RCV000326336 |
804 | R>T | Congenital Stationary Night Blindness, Dominant Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001257886 RCV000013988 rs121918583 CA256723 CA2795056 |
807 | W>R | Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 40 Retinitis pigmentosa 40 (rp40) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1737988951 RCV001073446 |
810 | L>P | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000987388 RCV001869344 rs1577311264 CA355920570 |
814 | Y>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2795068 RCV001209911 rs138682290 RCV001154417 RCV001154418 |
824 | K>E | Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV000591409 RCV001535673 CA2795114 RCV000283346 RCV000338358 rs141647790 |
850 | T>A | PDE6B-related disease Retinitis pigmentosa Congenital stationary night blindness autosomal dominant 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_009293 | 854 | L>R | RP40; autosomal recessive [UniProt] | Yes | UniProt |
|
RCV001201412 rs1734048235 |
1 | M>I | No |
ClinVar dbSNP |
|
|
rs369501371 CA355905828 |
4 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2793818 rs369501371 |
4 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91051687 rs898928851 |
5 | E>K | No |
ClinGen Ensembl |
|
|
rs769821115 CA2793819 |
7 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA355905871 rs750974030 |
8 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs750974030 CA2793820 |
8 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762518208 CA2793821 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355905883 rs76755568 |
9 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76755568 CA2793823 RCV000965664 |
9 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764396309 CA2793825 |
11 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762059087 CA2793827 |
13 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355905925 rs1285867711 |
13 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765828124 CA2793828 |
15 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA355905968 rs1360629462 |
16 | P>A | No |
ClinGen TOPMed |
|
|
rs866891056 CA91051729 |
17 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758552173 CA2793830 |
17 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2793832 rs751865604 |
19 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001229038 rs558368752 CA2793833 |
20 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM163375 rs781251175 CA355906022 |
20 | R>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV001226474 CA355906072 rs1339216331 |
24 | G>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA2793835 rs748035218 |
25 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2793836 rs769473166 |
26 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777693058 CA2793837 |
27 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355906119 rs1436573548 |
28 | S>R | No |
ClinGen gnomAD |
|
|
rs749166835 CA2793838 |
29 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA355906131 rs1553801522 |
30 | E>K | No |
ClinGen Ensembl |
|
|
CA2793839 rs770449748 |
31 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA355906157 rs1577233509 |
33 | A>V | No |
ClinGen Ensembl |
|
|
rs182545478 CA2793840 |
34 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA355906194 rs1479762379 |
39 | G>A | No |
ClinGen gnomAD |
|
|
rs151334566 CA2793846 |
39 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355906196 rs1577233563 |
40 | C>G | No |
ClinGen Ensembl |
|
|
rs1231216242 CA355906208 |
41 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV001307660 TCGA novel rs1231216242 |
41 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar dbSNP NCI-TCGA |
|
CA2793849 rs751741141 |
42 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs949398735 CA91051817 |
42 | P>T | No |
ClinGen gnomAD |
|
|
CA355906216 rs1405391370 |
43 | D>Y | No |
ClinGen gnomAD |
|
|
CA355906228 rs199974771 |
44 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355906241 rs749254565 |
46 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777494853 CA2793853 |
46 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA355906245 rs1378109538 |
47 | L>F | No |
ClinGen gnomAD |
|
|
CA355906247 rs1398286912 |
47 | L>P | No |
ClinGen TOPMed |
|
|
RCV001235848 rs191195745 CA2793856 |
48 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1198246370 CA355906257 |
49 | D>E | No |
ClinGen gnomAD |
|
|
CA355906255 rs1316203326 |
49 | D>G | No |
ClinGen gnomAD |
|
|
rs79826315 CA355906252 |
49 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs865898283 CA91051889 |
50 | L>F | No |
ClinGen Ensembl |
|
|
rs746580719 CA2793858 |
53 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746580719 CA355906283 |
53 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267600200 CA91051894 |
53 | V>M | No |
ClinGen TOPMed |
|
|
CA355906284 rs1173402643 |
54 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2793859 RCV001214987 rs770318126 |
55 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001207751 CA2793863 rs200898108 COSM374476 |
58 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749588111 CA91051936 |
59 | L>Q | No |
ClinGen gnomAD |
|
|
CA2793864 rs759667480 |
60 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756249591 CA2793867 |
62 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1340296893 CA355906355 |
64 | Q>H | No |
ClinGen gnomAD |
|
|
CA355906353 rs1323556975 |
64 | Q>R | No |
ClinGen TOPMed |
|
|
rs377415525 RCV001204351 CA91052006 |
65 | D>Y | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA355906373 rs1338435497 |
66 | M>T | No |
ClinGen gnomAD |
|
|
CA91052008 rs964274841 |
66 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1218102158 CA355906388 |
67 | Q>R | No |
ClinGen gnomAD |
|
|
RCV001327552 rs1258894644 CA355906394 |
68 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA2793870 rs370493176 |
69 | S>N | No |
ClinGen ESP ExAC |
|
|
CA355906421 rs757030384 |
70 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001226415 CA2793871 rs757030384 |
70 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs778885873 CA2793872 |
71 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs757935409 CA2793874 |
72 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2793873 RCV001044540 rs745722843 |
72 | M>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA355906460 rs1477176928 |
73 | E>D | No |
ClinGen gnomAD |
|
|
CA2793875 rs779379143 RCV000444954 |
73 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001320165 rs370187319 CA2793877 |
74 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376238566 CA2793879 |
75 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771356794 CA2793880 |
76 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759913109 CA2793882 |
78 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1359207012 CA355906509 |
78 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2793883 rs767666924 |
79 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs370894310 CA2793885 |
81 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2793884 rs775472684 RCV001316670 |
81 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2793887 RCV001209629 rs754051319 |
82 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2793888 rs757048461 |
82 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2793889 rs141729573 |
83 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91052115 rs538758910 |
83 | L>H | No |
ClinGen 1000Genomes |
|
|
rs1487940556 CA355906554 |
84 | C>R | No |
ClinGen gnomAD |
|
|
rs750393714 CA2793890 |
84 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758310958 CA2793891 |
85 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758310958 CA355906568 |
85 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs780023604 CA2793892 |
86 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751090505 CA2793893 |
87 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91052133 rs970768801 |
88 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1378894607 CA355906607 |
89 | A>V | No |
ClinGen gnomAD |
|
|
CA355906609 rs1299406502 |
90 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355906613 rs1299406502 |
90 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2793895 rs747747667 |
91 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2793896 rs142736367 |
91 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91052143 rs747747667 |
91 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385985703 CA355906647 |
93 | S>G | No |
ClinGen TOPMed |
|
|
rs1331925035 CA355906648 |
93 | S>N | No |
ClinGen gnomAD |
|
|
rs1235093326 CA355906654 |
93 | S>R | No |
ClinGen gnomAD |
|
|
rs779107171 CA2793897 |
94 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1734071567 RCV001067234 |
95 | F>S | No |
ClinVar dbSNP |
|
|
CA355906679 rs1240778339 |
96 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2793899 rs374578601 RCV001069492 |
98 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001345933 CA2793901 rs576548604 |
99 | Q>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
RCV001322161 rs555600300 |
100 | R>L | No |
ClinVar dbSNP |
|
|
CA2793906 rs762799836 |
102 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA355906753 rs762799836 |
102 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2793905 RCV001337666 rs750237172 |
102 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA355906754 rs762799836 |
102 | G>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001325899 CA91052303 rs769212020 |
103 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs751477149 CA2793908 RCV001051278 |
103 | V>M | Variant assessed as Somatic; 5.457e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1329635944 CA355906771 |
104 | A>T | No |
ClinGen gnomAD |
|
|
rs1433002725 CA355906788 |
105 | E>A | No |
ClinGen TOPMed |
|
|
rs752429712 CA355906795 |
106 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355906810 rs1338656898 |
107 | A>V | No |
ClinGen gnomAD |
|
|
CA355906821 rs1265490170 |
109 | R>T | No |
ClinGen gnomAD |
|
|
CA355906828 rs1418170179 |
110 | L>I | No |
ClinGen TOPMed |
|
|
CA2793911 rs755871033 |
113 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2793913 rs147382017 RCV000905504 |
115 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 116 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355906904 rs1369117287 |
116 | D>G | No |
ClinGen gnomAD |
|
|
CA355906900 rs1187523863 |
116 | D>Y | No |
ClinGen gnomAD |
|
|
rs1463082566 CA355906917 |
117 | S>N | No |
ClinGen gnomAD |
|
|
CA2793917 rs201253138 COSM3409389 |
118 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs776648520 CA2793918 |
119 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355906935 rs1222070042 |
119 | L>P | No |
ClinGen TOPMed |
|
|
rs1376762204 CA355906947 |
120 | E>G | No |
ClinGen gnomAD |
|
|
CA91052349 rs1010157675 |
121 | D>E | No |
ClinGen TOPMed |
|
|
CA355906954 rs1577234130 |
121 | D>N | No |
ClinGen Ensembl |
|
|
CA355906976 rs1313437038 |
122 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA355906969 rs1395366466 |
122 | C>R | No |
ClinGen gnomAD |
|
|
CA355906972 RCV001351154 rs1313437038 |
122 | C>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs769971462 CA2793921 |
125 | P>H | No |
ClinGen ExAC |
|
|
CA355907016 rs1253425548 |
126 | P>R | No |
ClinGen gnomAD |
|
|
rs1200186277 CA355907010 |
126 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766141814 RCV001309657 CA2793924 |
127 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs766141814 CA355907022 |
127 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2793927 rs767531877 |
129 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA355907051 rs1158621260 |
130 | I>F | No |
ClinGen Ensembl |
|
|
RCV001349674 COSM1430395 CA2793930 rs145863444 |
131 | V>I | large_intestine Variant assessed as Somatic; 5.688e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs753462853 CA2793931 |
132 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA355907074 rs1465365317 |
132 | F>L | No |
ClinGen gnomAD |
|
|
CA355907087 rs1397548781 |
133 | P>L | No |
ClinGen gnomAD |
|
|
CA355907084 rs1377226803 |
133 | P>S | No |
ClinGen gnomAD |
|
|
CA2793932 rs758700964 RCV001309766 |
134 | L>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2793934 rs747541112 |
136 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs780345903 CA2793933 |
136 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257059697 CA355907126 |
138 | V>I | No |
ClinGen gnomAD |
|
|
CA355907138 CA355907140 rs545001524 |
139 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545001524 CA2793938 |
139 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2793939 rs773322970 |
140 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs370159647 CA355907172 |
142 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370159647 CA2793942 |
142 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1176564756 CA355907178 |
143 | A>T | No |
ClinGen gnomAD |
|
|
CA2793943 rs759382635 |
143 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1417766876 CA355907214 |
145 | T>I | No |
ClinGen gnomAD |
|
|
rs1158037802 CA355907222 |
146 | K>R | No |
ClinGen gnomAD |
|
|
rs983701385 CA91052506 |
147 | K>E | No |
ClinGen Ensembl |
|
|
CA2793944 rs374446899 RCV001241576 |
147 | K>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2793945 rs775561306 |
148 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146599285 CA355907280 |
151 | V>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146599285 CA91052518 |
151 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146599285 CA355907278 |
151 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA355907287 rs1302387853 |
152 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 153 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2793949 RCV000523966 rs756889736 |
154 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA91052534 rs367907622 |
155 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751982910 COSM3409390 RCV001322859 CA2793951 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs757406419 CA91059939 |
157 | C>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001298278 rs757406419 |
157 | C>R | No |
ClinVar dbSNP |
|
|
rs757406419 CA2793976 |
157 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs751237724 CA91059958 |
158 | P>L | No |
ClinGen Ensembl |
|
|
CA2793977 rs779281806 |
158 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1233995602 CA355908098 |
159 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574098823 CA355908117 |
161 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA241322 rs772012465 RCV000175574 |
162 | S>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs746748194 CA355908136 RCV001233415 |
164 | A>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2793980 rs746748194 RCV001058242 |
164 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2793982 rs776431006 |
167 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA355908154 rs1241735853 |
167 | L>V | No |
ClinGen TOPMed |
|
|
rs1734559404 RCV001229726 |
168 | T>S | No |
ClinVar dbSNP |
|
| TCGA novel | 169 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559622142 CA2793984 |
170 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772876974 RCV001228932 CA2793986 |
175 | M>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA355908216 rs1577244873 |
175 | M>T | No |
ClinGen Ensembl |
|
|
CA355908241 rs1577244880 |
179 | P>L | No |
ClinGen Ensembl |
|
|
rs145046594 CA2793988 |
180 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145046594 CA2793987 |
180 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764727786 CA2793991 |
183 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA355908281 rs757424904 |
185 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754229829 CA2793992 |
185 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2793995 rs779085612 |
186 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2793994 rs779085612 |
186 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355908289 rs1269199153 |
187 | V>A | No |
ClinGen TOPMed |
|
|
CA355908286 rs138615156 |
187 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2793999 rs375253226 |
188 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1577244980 CA355908301 |
189 | V>G | No |
ClinGen Ensembl |
|
|
rs1270994327 CA355908297 |
189 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1488173680 CA355908309 |
191 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2794001 rs368548274 |
192 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2794002 rs769328879 |
193 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355908327 rs769328879 |
193 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355908337 rs1212998897 |
195 | K>E | No |
ClinGen gnomAD |
|
|
CA355908346 rs1410569885 |
196 | L>F | No |
ClinGen TOPMed |
|
|
rs1260391277 CA355908348 |
196 | L>P | No |
ClinGen gnomAD |
|
|
CA91060113 rs199690401 |
198 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355908358 rs199690401 |
198 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2794006 rs199690401 RCV001238703 |
198 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs761103835 CA2794007 |
199 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs567350397 CA91060131 |
201 | F>L | No |
ClinGen 1000Genomes |
|
| TCGA novel | 203 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001222006 rs765804881 CA2794011 |
204 | E>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs765804881 CA2794012 RCV001050834 |
204 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA355908407 CA2794014 rs149293844 |
205 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2794013 rs758535671 |
205 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1307543122 CA355908413 |
206 | E>D | No |
ClinGen TOPMed |
|
|
CA91060176 rs913609037 |
206 | E>G | No |
ClinGen Ensembl |
|
|
rs140444984 CA2794015 |
206 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1160129652 CA355908419 |
207 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375116150 CA91061240 |
211 | K>N | No |
ClinGen Ensembl |
|
|
CA91061235 rs931585780 |
211 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771666453 CA2794046 |
212 | Y>C | No |
ClinGen ExAC |
|
|
VAR_009285 rs551545798 CA2794045 |
212 | Y>H | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1221622349 CA355908823 |
216 | A>S | No |
ClinGen TOPMed |
|
|
rs1039941679 CA91061242 |
216 | A>V | No |
ClinGen TOPMed |
|
|
rs748586554 CA2794048 |
217 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355908880 rs1417132180 |
219 | Y>C | No |
ClinGen Ensembl |
|
|
rs771441828 CA2794051 |
222 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774344792 CA2794052 |
223 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA91061278 rs899890736 RCV001341272 |
224 | H>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 225 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355908966 rs1275552977 |
225 | L>R | No |
ClinGen TOPMed |
|
|
rs201584824 CA91061298 |
228 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355909067 rs1310019569 |
231 | C>F | No |
ClinGen TOPMed |
|
|
rs374915809 COSM3303264 CA2794058 RCV001294874 |
234 | R>C | large_intestine Variant assessed as Somatic; 4.633e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs369318359 CA2794059 RCV001315425 |
234 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2794061 rs749955507 |
235 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001233965 rs757918699 CA2794062 |
235 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1577247215 CA355909144 |
236 | G>D | No |
ClinGen Ensembl |
|
|
CA2794065 rs75543439 |
236 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001055132 rs75543439 CA2794064 |
236 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767081247 CA2794099 |
240 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA91077654 rs752338559 |
240 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794100 rs752338559 |
240 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16618052 RCV000481840 rs1064796921 |
241 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs757587074 CA2794101 |
242 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794104 rs758953034 |
243 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA355910712 rs1299193084 |
249 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747155909 CA2794106 |
251 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355910731 rs1210313417 |
252 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 252 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210313417 RCV001339911 |
252 | D>Y | No |
ClinVar dbSNP |
|
|
rs748364111 CA355910739 |
253 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794110 rs769878878 |
253 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794109 rs748364111 |
253 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146204075 RCV001236278 CA2794112 |
254 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1735846674 RCV001055482 |
255 | R>T | No |
ClinVar dbSNP |
|
|
CA355910763 rs1369159322 |
256 | Q>H | No |
ClinGen gnomAD |
|
|
rs993808582 CA355910771 |
257 | F>L | No |
ClinGen gnomAD |
|
|
CA355910783 rs1373787252 |
259 | K>R | No |
ClinGen gnomAD |
|
|
rs1553808737 CA355910791 |
260 | A>D | No |
ClinGen Ensembl |
|
|
rs774364862 CA2794114 |
260 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355910793 rs1439602845 |
261 | F>L | No |
ClinGen gnomAD |
|
|
rs767006704 CA355910807 |
262 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755828989 RCV001318954 CA2794118 |
263 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs750845388 CA2794120 RCV001040659 |
265 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2794124 rs781375358 |
267 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794123 rs190999087 |
267 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794127 rs777857198 |
268 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2794126 rs770115481 |
268 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA355911358 rs770792606 |
269 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774454585 CA2794130 |
270 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA355911404 rs1365261261 RCV001294704 |
271 | E>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA2794134 rs760089278 |
272 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753418753 CA2794136 |
273 | Y>C | No |
ClinGen ExAC |
|
|
CA355911455 rs199768318 |
275 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794138 rs199768318 |
275 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751893043 CA2794139 |
277 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355911495 rs1577271504 |
278 | L>P | No |
ClinGen Ensembl |
|
|
CA91077875 rs200821359 |
279 | D>G | No |
ClinGen gnomAD |
|
|
CA355911536 rs1198876448 |
280 | M>K | No |
ClinGen TOPMed |
|
|
CA355911540 rs1198876448 |
280 | M>T | No |
ClinGen TOPMed |
|
|
rs368480280 CA2794141 |
280 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370941664 CA2794142 |
281 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2794143 rs752892692 |
282 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2794144 rs756082042 |
283 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2794158 rs751980802 |
287 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262918922 CA355911690 |
287 | F>V | No |
ClinGen TOPMed |
|
|
CA2794162 rs756242997 |
289 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001238291 CA2794160 rs377200859 |
289 | V>L | No |
ClinVar dbSNP ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2794161 rs377200859 |
289 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355911727 rs1241365850 |
290 | W>* | No |
ClinGen Ensembl |
|
|
CA355911744 rs1560118465 |
291 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs753941022 CA2794163 |
296 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355911800 rs1270535721 CA355911801 |
296 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757599099 CA2794164 |
297 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1279538484 CA355911818 |
298 | Q>P | No |
ClinGen gnomAD |
|
|
CA2794165 rs745739451 |
299 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536967553 CA91078070 |
300 | Y>H | No |
ClinGen 1000Genomes |
|
|
rs369995075 CA2794168 |
301 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1446047065 CA355911847 |
301 | S>P | No |
ClinGen gnomAD |
|
|
CA2794170 rs776170484 |
302 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794172 rs772785020 |
303 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs573290599 CA2794173 |
304 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794174 rs140118694 |
304 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001060441 CA2794176 rs776099625 |
305 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs938120406 CA91078095 |
306 | P>L | No |
ClinGen Ensembl |
|
|
CA91078103 rs113666063 |
307 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2794177 rs764673374 |
309 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355912068 rs1577275090 |
312 | V>A | No |
ClinGen Ensembl |
|
|
CA355912079 rs1467931287 |
313 | F>S | No |
ClinGen gnomAD |
|
|
CA91079097 rs926897288 |
313 | F>V | No |
ClinGen TOPMed |
|
|
rs200694314 CA2794234 |
316 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355912138 rs1157883655 |
318 | D>N | No |
ClinGen gnomAD |
|
|
CA2794236 rs781718211 |
319 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2794235 rs769174906 |
319 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs769174906 CA355912154 |
319 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs143711050 CA355912194 |
322 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151029036 CA2794240 |
323 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560120083 CA355912214 |
324 | K>M | No |
ClinGen Ensembl |
|
|
rs774592016 CA2794241 |
325 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928426907 CA91079143 |
328 | K>Q | No |
ClinGen Ensembl |
|
|
CA2794242 rs759797366 |
328 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355912297 rs146116505 |
331 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146116505 CA91079159 |
331 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2794281 rs138955314 |
333 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2794283 rs769916800 |
334 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2794284 rs773227731 |
335 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs751003798 CA2794287 |
336 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355912440 rs751003798 |
336 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759285354 CA2794288 |
338 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1239573465 CA355912484 |
339 | A>S | No |
ClinGen gnomAD |
|
|
CA2794289 rs767066999 |
341 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2794290 rs754298712 |
342 | S>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001227862 CA2794291 rs368173258 |
343 | G>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779403316 CA2794292 |
345 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780144677 CA2794295 |
348 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355912808 rs1427985854 |
351 | S>N | No |
ClinGen TOPMed |
|
|
CA2794298 rs781265218 |
352 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355912817 rs1298105541 |
352 | G>V | No |
ClinGen gnomAD |
|
|
rs1553809864 CA2794300 |
353 | F>C | No |
ClinGen Ensembl |
|
|
CA355912845 rs1413886785 |
355 | C>G | No |
ClinGen gnomAD |
|
|
CA2794331 rs763303621 |
355 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001230135 rs1736225856 |
356 | N>D | No |
ClinVar dbSNP |
|
|
rs1343618576 CA355912856 |
356 | N>K | No |
ClinGen TOPMed |
|
|
CA355912858 rs1164089890 |
357 | I>L | No |
ClinGen gnomAD |
|
|
rs376325785 CA2794332 |
357 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA355912869 rs1388468540 |
358 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425628308 CA355912882 |
360 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 362 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755118928 CA2794334 |
362 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs969407523 CA91082690 |
362 | A>V | No |
ClinGen Ensembl |
|
|
rs150360174 CA355912904 |
363 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352683933 CA355912911 |
364 | E>D | No |
ClinGen gnomAD |
|
|
CA2794336 rs373029524 |
364 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756466841 CA2794337 |
365 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs376244350 CA2794339 |
367 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91083547 rs370353606 |
370 | E>A | No |
ClinGen ESP |
|
|
rs747796458 CA2794366 |
370 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355912995 rs1216311106 |
371 | G>R | No |
ClinGen TOPMed |
|
|
CA355913003 rs369775273 |
372 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2794367 rs369775273 |
372 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299826925 CA355913012 |
373 | L>Q | No |
ClinGen gnomAD |
|
|
rs759944711 CA2794370 |
375 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759944711 CA2794369 |
375 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794371 rs373742526 RCV001037046 |
377 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs373742526 CA355913053 |
377 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367889201 CA355913064 |
378 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355913069 rs1360000258 |
378 | W>* | No |
ClinGen TOPMed |
|
|
rs367889201 CA2794372 |
378 | W>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355913080 rs1312137169 |
379 | L>P | No |
ClinGen TOPMed |
|
|
rs1191669298 RCV001229025 CA355913105 |
381 | K>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1364365536 CA355913109 |
382 | N>H | No |
ClinGen TOPMed |
|
|
rs753934850 CA2794376 |
383 | V>M | No |
ClinGen ExAC TOPMed |
|
|
RCV001247476 rs754453234 |
384 | L>missing | No |
ClinVar dbSNP |
|
|
rs138037719 CA2794377 |
386 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355913149 rs1359000001 |
386 | M>V | No |
ClinGen TOPMed |
|
|
rs1392709495 CA355913168 |
387 | P>R | No |
ClinGen gnomAD |
|
|
rs765481943 CA2794378 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2794380 rs149477100 |
389 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355913193 rs1560123660 |
390 | N>Y | No |
ClinGen Ensembl |
|
|
CA355913210 rs1560123678 |
391 | K>N | No |
ClinGen Ensembl |
|
|
CA2794382 rs377468112 |
392 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs545913636 CA2794383 |
393 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2794384 rs754879517 |
394 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355913259 rs1260790280 |
395 | I>M | No |
ClinGen TOPMed |
|
|
rs968368477 CA91083641 |
398 | V>I | No |
ClinGen Ensembl |
|
|
RCV001327877 rs532583140 CA2794386 |
399 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs769401309 CA2794387 |
400 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777419808 CA2794388 |
401 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA355913337 rs1553810330 RCV000585307 |
402 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA91083675 rs993168480 |
402 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1736342067 RCV001314934 |
404 | R>G | No |
ClinVar dbSNP |
|
|
rs1275688200 CA355913384 |
405 | K>R | No |
ClinGen gnomAD |
|
|
CA2794392 rs60635284 RCV001235852 |
407 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs60635284 CA355913421 |
407 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794395 rs769260729 |
412 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769260729 CA355913490 |
412 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776905782 CA2794396 |
412 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181236974 CA2794398 |
414 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA91083716 rs879172834 |
414 | D>N | No |
ClinGen TOPMed |
|
|
CA355913531 rs879172834 |
414 | D>Y | No |
ClinGen TOPMed |
|
|
rs750599200 CA2794399 |
415 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750599200 CA2794400 |
415 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201691661 CA2794402 |
418 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374136816 CA91083738 |
419 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA355913614 rs1374268842 |
419 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA355913697 rs1179515943 |
420 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1483156436 CA355913702 |
421 | L>V | No |
ClinGen gnomAD |
|
|
rs1416540019 CA355913720 |
422 | T>I | No |
ClinGen gnomAD |
|
|
CA2794436 rs202194404 |
424 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355913753 rs1167974170 |
425 | L>P | No |
ClinGen gnomAD |
|
|
rs1390870221 CA355913762 |
426 | G>D | No |
ClinGen gnomAD |
|
|
CA355913773 RCV000520318 rs771148614 |
427 | W>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2794439 rs774502142 |
427 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771148614 CA2794438 |
427 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1332504594 CA355913769 |
427 | W>R | No |
ClinGen gnomAD |
|
|
CA355913797 rs1304399193 |
429 | V>E | No |
ClinGen gnomAD |
|
|
CA2794441 rs554095276 |
430 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 431 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775120495 CA2794442 |
432 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794444 rs539768252 |
433 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794446 rs756759117 |
434 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2794448 rs750045921 RCV001245151 |
436 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA355913868 rs750045921 |
436 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463881617 CA355913916 |
438 | M>I | No |
ClinGen gnomAD |
|
|
rs1311368050 CA355913908 |
438 | M>T | No |
ClinGen TOPMed |
|
|
rs781650518 CA2794450 |
439 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248704667 CA355913986 |
442 | E>Q | No |
ClinGen gnomAD |
|
|
RCV000585580 rs189094454 CA2794451 |
444 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756711483 COSM178031 CA355914038 |
444 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756711483 CA2794452 |
444 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs189094454 CA355914031 |
444 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355914046 rs1424672145 |
445 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355914058 rs1415273491 |
445 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1424672145 CA355914050 |
445 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2794455 rs180768440 |
447 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794453 rs778076721 |
447 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794456 rs779139841 |
448 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794459 rs772166846 |
449 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA355914159 rs1439824126 |
450 | D>E | No |
ClinGen TOPMed |
|
|
CA355914147 rs1433628378 |
450 | D>H | No |
ClinGen gnomAD |
|
|
rs375564041 CA2794460 RCV001244213 |
451 | M>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs942860617 CA91084376 |
453 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 455 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91084382 rs769048468 |
455 | H>Y | No |
ClinGen Ensembl |
|
|
CA91084422 rs903902006 |
456 | V>G | No |
ClinGen Ensembl |
|
|
CA91084407 rs376028657 |
456 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376028657 CA2794462 |
456 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794463 rs574676553 |
457 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2794464 rs761428338 RCV001063692 |
458 | C>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs762715924 CA2794467 |
459 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs368069770 CA2794466 |
459 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196779925 CA355914325 |
460 | R>G | No |
ClinGen gnomAD |
|
|
rs1246209750 COSM1694056 CA355914339 |
461 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs369946269 CA2794470 |
462 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs560334464 CA2794468 |
462 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456546093 CA355914473 |
466 | I>T | No |
ClinGen gnomAD |
|
|
CA355915300 rs1420482878 |
468 | P>L | No |
ClinGen TOPMed |
|
|
CA91085583 rs970820632 |
468 | P>T | No |
ClinGen Ensembl |
|
|
rs1482812520 CA355915309 |
470 | R>K | No |
ClinGen gnomAD |
|
|
RCV000998203 CA2794510 rs182071364 |
471 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2794513 rs759164479 RCV000732158 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs759164479 CA91085620 |
472 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342420559 CA355915322 |
473 | L>M | No |
ClinGen gnomAD |
|
|
RCV001064066 rs1736701038 |
475 | K>M | No |
ClinVar dbSNP |
|
|
rs765743401 CA2794517 |
477 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765743401 RCV001071981 |
477 | P>R | No |
ClinVar dbSNP |
|
|
CA2794518 rs750844410 |
478 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758534668 CA2794519 |
478 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2794520 rs766408864 |
479 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355915375 rs755308738 |
480 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794521 rs751635987 |
480 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA2794522 rs755308738 |
480 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747971172 CA2794524 |
481 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355915379 rs200018423 |
481 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794523 rs200018423 |
481 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794525 rs200443661 |
482 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2794527 rs749225833 |
484 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355915437 rs1327132399 |
486 | G>S | No |
ClinGen TOPMed |
|
|
CA355915710 rs1577292553 |
490 | K>N | No |
ClinGen Ensembl |
|
|
CA355915704 rs1484767096 |
490 | K>R | No |
ClinGen Ensembl |
|
|
CA2794555 rs771355491 |
492 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388485575 CA355915760 |
494 | P>L | No |
ClinGen gnomAD |
|
|
CA355915754 rs1157436132 |
494 | P>S | No |
ClinGen gnomAD |
|
|
rs1553812485 RCV000658987 |
498 | T>missing | No |
ClinVar dbSNP |
|
|
CA2794559 rs767744209 |
498 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767744209 CA2794558 |
498 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA2794557 rs759718245 |
498 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2794561 rs150000610 RCV001477287 RCV001002243 |
499 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1287509484 CA355915823 RCV001309034 |
500 | D>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs753575384 CA2794562 |
500 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2794563 rs757022727 |
501 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001307567 rs1270538372 CA355915892 |
503 | E>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2794566 rs758303497 |
503 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV001812474 rs758303497 |
503 | E>Q | No |
ClinVar dbSNP |
|
|
rs1471418829 CA355915912 |
504 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355915920 rs1180394855 |
505 | H>Y | No |
ClinGen gnomAD |
|
|
CA355915987 rs1420199358 |
508 | D>N | No |
ClinGen gnomAD |
|
|
CA91087453 rs923477519 |
510 | E>D | No |
ClinGen Ensembl |
|
|
rs976686132 CA355916027 |
510 | E>K | No |
ClinGen gnomAD |
|
|
rs976686132 CA91087438 |
510 | E>Q | No |
ClinGen gnomAD |
|
|
rs746510596 CA2794568 |
511 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355916053 rs746510596 |
511 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303860503 CA355916070 |
512 | T>A | No |
ClinGen gnomAD |
|
|
rs1367624576 CA355916079 |
512 | T>S | No |
ClinGen gnomAD |
|
|
CA355916093 rs1307178553 |
513 | E>A | No |
ClinGen gnomAD |
|
|
rs768260906 CA91087472 |
513 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768260906 CA2794569 |
513 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771286479 CA2794572 |
514 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs780830241 RCV001339876 CA2794571 |
514 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1321075683 CA355916114 |
515 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1321075683 CA355916119 |
515 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs868797069 CA91087497 |
517 | V>I | No |
ClinGen Ensembl |
|
|
rs1489751964 CA355916189 |
519 | C>R | No |
ClinGen TOPMed |
|
|
CA355916267 CA355916271 rs1204692489 |
523 | M>I | No |
ClinGen TOPMed |
|
|
CA91087508 rs977903615 |
523 | M>R | No |
ClinGen TOPMed |
|
|
rs760168093 CA2794574 |
524 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs760168093 CA2794575 |
524 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA355916273 rs1293336173 |
524 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA355916276 rs1293336173 |
524 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs373724992 CA91087537 |
525 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251527113 CA355916319 |
527 | L>V | No |
ClinGen gnomAD |
|
|
rs764240745 CA2794578 |
528 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2794581 rs765122515 |
529 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs121918580 CA2794584 |
531 | R>G | Retinitis pigmentosa 40 (rp40) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2794587 rs144664551 |
531 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2794586 rs144664551 |
531 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355916380 TCGA novel rs1444051828 |
532 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs1197816052 CA355916389 |
533 | F>S | No |
ClinGen TOPMed |
|
|
RCV001053231 rs568331063 CA2794589 |
536 | P>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 537 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147847379 CA2794591 |
538 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777340979 CA91088634 |
539 | V>D | No |
ClinGen TOPMed |
|
|
CA355916739 rs1319627398 |
541 | V>M | No |
ClinGen TOPMed |
|
|
rs190470432 CA91088654 |
542 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190470432 COSM3826059 CA2794624 |
542 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA355916813 rs1219607825 |
547 | I>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs1268389019 CA355916831 |
548 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1201231261 CA355916870 |
552 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA355916882 rs1293093659 |
554 | I>V | No |
ClinGen TOPMed |
|
|
rs905974187 CA91088678 |
555 | T>N | No |
ClinGen TOPMed |
|
|
rs891153038 CA91088675 |
555 | T>P | No |
ClinGen Ensembl |
|
|
rs536742386 CA2794630 |
557 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403054132 CA355916929 |
559 | W>* | No |
ClinGen gnomAD |
|
|
RCV001212202 rs777799273 CA2794631 |
560 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs771128058 CA91088698 |
561 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1305333312 CA355916955 |
561 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749560815 CA2794632 |
561 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA355916960 rs1238932275 |
562 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA91088703 rs888035302 |
563 | F>L | No |
ClinGen TOPMed |
|
|
rs376023541 CA91088713 |
565 | V>M | No |
ClinGen TOPMed |
|
|
CA2794634 rs759183187 |
566 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1013206462 CA91088717 |
568 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA355917033 rs369980987 |
568 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355917046 rs1211179765 |
569 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2794639 rs753379480 |
571 | T>S | No |
ClinGen ExAC |
|
|
CA355917090 rs1376038623 |
573 | L>F | No |
ClinGen TOPMed |
|
|
rs1426150804 CA355917098 |
574 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1228510803 CA355917190 |
575 | T>S | No |
ClinGen gnomAD |
|
|
CA2794667 RCV000479658 rs753925314 |
576 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2794668 rs757275662 |
579 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779222916 CA2794669 |
582 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA355917294 rs1233486391 |
583 | T>A | No |
ClinGen TOPMed |
|
|
rs377243929 CA2794671 |
583 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377243929 CA355917301 |
583 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355917321 rs1448980326 |
585 | L>V | No |
ClinGen TOPMed |
|
|
CA355917375 rs1375112923 |
589 | A>T | No |
ClinGen gnomAD |
|
|
rs369416193 CA91089012 |
590 | M>I | No |
ClinGen gnomAD |
|
|
CA355917382 rs1400957482 |
590 | M>V | No |
ClinGen TOPMed |
|
|
CA2794676 rs747684283 |
592 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs536681553 CA2794679 |
594 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1026011922 CA91089027 |
595 | L>P | No |
ClinGen TOPMed |
|
|
CA2794682 COSM1694057 rs764605140 |
600 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754298498 CA2794683 |
602 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239661808 CA355917543 |
603 | G>D | No |
ClinGen gnomAD |
|
|
CA2794687 rs758617342 |
603 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751415675 CA2794689 |
605 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748138553 CA355917619 |
609 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956462633 CA91089067 |
609 | Q>L | No |
ClinGen gnomAD |
|
|
rs769757459 CA2794693 |
610 | M>I | No |
ClinGen ExAC |
|
|
rs777215608 CA2794694 |
611 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777215608 CA355917638 |
611 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355917722 rs1397659562 |
612 | S>P | No |
ClinGen gnomAD |
|
|
rs767781179 CA2794730 |
615 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA355917762 rs1313383856 |
615 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1169477125 CA355917778 |
618 | K>Q | No |
ClinGen gnomAD |
|
|
rs1452663775 CA355917802 |
621 | G>D | No |
ClinGen gnomAD |
|
|
CA2794736 rs757161177 |
621 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373925141 CA91089440 |
622 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs373925141 CA355917812 |
622 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1316551854 CA355917807 |
622 | S>P | No |
ClinGen gnomAD |
|
|
CA2794737 rs368095904 RCV001294663 |
623 | S>L | Variant assessed as Somatic; 0.0006929 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1737317313 RCV001301909 |
623 | S>missing | No |
ClinVar dbSNP |
|
|
CA2794738 rs745381251 |
624 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs758052437 CA355917843 |
626 | E>K | Retinitis pigmentosa 40 (rp40) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2794739 rs758052437 |
626 | E>Q | Retinitis pigmentosa 40 (rp40) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2794741 rs748487676 |
627 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs371911345 CA355917857 |
627 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA355917880 rs1427162687 |
629 | H>Y | No |
ClinGen TOPMed |
|
|
rs201165004 CA91089490 |
630 | L>R | No |
ClinGen 1000Genomes |
|
|
rs1046213247 CA91089503 |
631 | E>* | No |
ClinGen gnomAD |
|
|
rs1046213247 CA355917901 |
631 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 631 | E>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2794743 rs773420808 |
632 | F>S | Retinitis pigmentosa 40 (rp40) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1211020696 CA355917933 |
633 | G>E | No |
ClinGen TOPMed |
|
|
CA2794744 rs377106018 CA355917950 |
634 | K>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs968905749 CA91089511 |
634 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771559007 CA355917977 |
637 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794745 rs771559007 |
637 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794746 rs774575442 |
637 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA355917992 rs767873714 |
638 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA2794749 rs775737936 |
639 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2794750 rs372761934 |
640 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757655937 CA2794780 |
641 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1422340072 CA355918105 |
641 | T>I | No |
ClinGen gnomAD |
|
|
CA355918115 rs1365838681 |
642 | L>V | No |
ClinGen gnomAD |
|
|
rs746421870 RCV001226413 CA2794782 |
644 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA91090250 rs369323080 |
645 | Y>N | No |
ClinGen ESP |
|
|
RCV001210356 rs748679882 |
645 | Y>missing | No |
ClinVar dbSNP |
|
|
rs376438767 CA91090252 |
646 | Q>* | No |
ClinGen ESP gnomAD |
|
|
rs780243503 CA2794785 |
647 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2794784 rs772442419 |
647 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs776789430 CA2794788 |
649 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1182502700 CA355918253 |
650 | R>Q | No |
ClinGen gnomAD |
|
|
rs1437154616 CA355918252 |
650 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs761630795 CA2794789 |
651 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138626553 CA2794790 |
651 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761630795 CA355918259 |
651 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91090315 rs17849286 VAR_054869 |
654 | E>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1021018052 CA91090304 |
654 | E>G | No |
ClinGen Ensembl |
|
|
rs766224891 CA2794793 |
654 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766224891 CA355918320 |
654 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794795 rs758919065 |
655 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA2794794 rs751093662 |
655 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA355918370 rs1255468511 |
657 | I>V | No |
ClinGen TOPMed |
|
|
CA355918391 rs1330095073 RCV001231328 |
658 | H>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA355918417 rs1403114097 |
660 | M>L | No |
ClinGen gnomAD |
|
|
CA2794796 rs767229916 |
663 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752437687 CA2794797 |
665 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1338555787 CA355918520 |
665 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 666 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577301521 CA355918552 |
667 | T>M | No |
ClinGen Ensembl |
|
|
rs1560135164 CA355918591 |
670 | A>S | No |
ClinGen Ensembl |
|
|
CA355918607 rs1560135168 |
671 | L>M | No |
ClinGen Ensembl |
|
|
rs1033621333 CA91090331 |
671 | L>P | No |
ClinGen Ensembl |
|
|
rs1560135168 CA355918609 |
671 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 674 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355918739 rs1350929754 |
675 | K>N | No |
ClinGen gnomAD |
|
|
CA355918748 rs1218394459 |
676 | R>T | No |
ClinGen gnomAD |
|
|
rs756335597 CA2794828 COSM1056581 |
677 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs777922188 CA2794829 |
678 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2794830 rs146171339 |
680 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355918800 RCV001207433 rs1432322807 |
680 | Q>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA2794831 rs770670867 |
682 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA355918870 CA91090635 rs199531882 |
685 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1577302540 CA355918881 |
686 | S>F | No |
ClinGen Ensembl |
|
|
rs1423697828 CA355918904 |
688 | N>I | No |
ClinGen gnomAD |
|
|
CA2794836 rs760202873 |
689 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1190475435 CA355918927 |
690 | Q>* | No |
ClinGen Ensembl |
|
|
CA355918929 RCV001346061 rs1560135667 |
690 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA355918964 rs1305642045 |
692 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs528393303 CA2794839 |
693 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355919008 rs1241719893 |
695 | W>* | No |
ClinGen gnomAD |
|
|
rs1241719893 CA355919010 |
695 | W>C | No |
ClinGen gnomAD |
|
|
CA355919019 rs1358307626 |
696 | V>E | No |
ClinGen gnomAD |
|
|
CA2794840 rs761498587 |
696 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91090647 rs761498587 |
696 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794841 RCV001308628 rs766706231 |
697 | E>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs755504625 CA2794843 |
698 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751940474 CA2794842 |
698 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001210861 CA2794845 rs752794968 |
700 | S>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2794847 rs777799123 |
701 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA355919517 rs1440353483 |
701 | L>V | No |
ClinGen gnomAD |
|
|
rs749521240 CA355919527 |
702 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355919520 rs1215551371 |
702 | E>K | No |
ClinGen TOPMed |
|
|
rs757484823 CA2794849 |
703 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91091827 rs1039888923 |
704 | T>N | No |
ClinGen TOPMed |
|
|
rs200397909 CA2794852 |
705 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768325431 CA2794855 |
706 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs776187472 CA2794856 |
708 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs1737505080 RCV001301906 |
709 | V>I | No |
ClinVar dbSNP |
|
|
CA2794859 rs367950333 |
710 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768040855 CA2794861 |
710 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs367950333 CA2794860 |
710 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355919586 rs1489127015 |
711 | A>S | No |
ClinGen gnomAD |
|
|
rs1290797512 CA355919596 |
712 | M>R | No |
ClinGen TOPMed |
|
|
CA355919592 rs1268022492 |
712 | M>V | No |
ClinGen gnomAD |
|
|
rs1192415425 CA355919605 |
713 | M>I | No |
ClinGen gnomAD |
|
|
CA2794907 rs371322951 |
713 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355919611 rs1399723682 |
714 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1272499752 CA355919624 |
715 | T>I | No |
ClinGen TOPMed |
|
|
rs754756020 CA2794909 |
716 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV001241353 CA355919661 rs748726198 |
718 | D>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs150639487 CA355919652 |
718 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355919671 rs1276669254 |
719 | L>P | No |
ClinGen gnomAD |
|
|
rs1388290058 CA355919681 |
720 | S>F | No |
ClinGen TOPMed |
|
|
CA355919688 rs1371333838 |
721 | A>D | No |
ClinGen gnomAD |
|
|
rs756911878 CA2794915 |
722 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA355919757 rs1450006306 |
726 | W>* | No |
ClinGen TOPMed |
|
|
CA355919759 rs1450006306 |
726 | W>C | No |
ClinGen TOPMed |
|
| rs370954725 | 732 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91092959 rs367879245 |
733 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367879245 CA2794952 |
733 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2794953 rs749898070 |
733 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259399134 CA355919932 |
735 | L>P | No |
ClinGen gnomAD |
|
|
CA2794955 RCV001349376 rs779518964 |
736 | V>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA355919951 rs574529843 |
737 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574529843 CA2794957 |
737 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs962147195 CA91092969 |
739 | E>D | No |
ClinGen Ensembl |
|
|
rs778255348 CA2794958 |
739 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355919977 rs1271506493 |
740 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1560137638 CA355919983 |
740 | F>S | No |
ClinGen Ensembl |
|
|
CA355920015 RCV000998204 rs1477762818 |
742 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1261540842 CA355920013 |
742 | E>V | No |
ClinGen gnomAD |
|
|
rs1171957489 CA355920019 |
743 | Q>* | No |
ClinGen gnomAD |
|
|
CA355920039 rs1426436377 |
744 | G>D | No |
ClinGen gnomAD |
|
|
rs1320189389 CA355920037 |
744 | G>R | No |
ClinGen gnomAD |
|
|
CA355920041 rs1426436377 |
744 | G>V | No |
ClinGen gnomAD |
|
|
RCV001063562 CA2794959 rs749866009 |
748 | R>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA91092987 rs976147000 |
751 | L>F | No |
ClinGen Ensembl |
|
|
CA355920139 rs200667817 |
752 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2794960 RCV001341931 rs200667817 |
752 | D>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs779052095 CA2794961 |
753 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1339645006 CA355920164 |
755 | P>R | No |
ClinGen gnomAD |
|
|
CA2794963 rs772361551 |
756 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 757 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140857147 RCV001301531 CA2794990 |
758 | M>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001209161 rs1440621071 |
759 | M>K | No |
ClinVar dbSNP |
|
|
rs1440621071 CA355920202 |
759 | M>T | No |
ClinGen gnomAD |
|
|
CA2794992 RCV001344805 rs144727865 COSM178034 |
761 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001318386 rs756653121 CA2794991 |
761 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs757656130 CA2794994 |
763 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs897030115 CA91093878 |
764 | A>T | No |
ClinGen TOPMed |
|
|
rs750939302 CA2794996 |
764 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2794999 rs747025539 |
765 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs747972385 CA2795002 |
766 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781343108 CA2795001 |
766 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1414717796 CA355920290 |
773 | G>A | No |
ClinGen gnomAD |
|
|
CA2795007 rs369040252 |
775 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355920309 rs1411925900 |
776 | D>G | No |
ClinGen gnomAD |
|
|
RCV001321282 rs35792756 |
777 | F>L | No |
ClinVar dbSNP |
|
|
rs1370109594 CA355920325 |
778 | V>A | No |
ClinGen gnomAD |
|
|
rs1225038079 CA355920338 |
780 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1338476489 CA355920341 |
781 | F>L | No |
ClinGen gnomAD |
|
|
rs145124626 CA355920349 |
782 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs917391486 CA91093952 |
783 | Y>S | No |
ClinGen Ensembl |
|
|
rs1211131572 CA355920379 |
785 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1211131572 CA355920380 |
785 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV001202290 rs1737975912 |
785 | E>V | No |
ClinVar dbSNP |
|
|
rs954562282 RCV000998205 CA355920402 |
788 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA91094794 rs954562282 |
788 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777999727 RCV001227151 CA2795039 |
788 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA355920404 rs777999727 |
788 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355920420 COSM4159135 rs753602004 |
790 | H>Q | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs868339980 CA91094811 |
791 | E>G | No |
ClinGen Ensembl |
|
|
CA2795042 rs778827937 |
796 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2795044 RCV001212063 rs143154045 |
797 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355920469 rs1401493156 |
798 | D>E | No |
ClinGen TOPMed |
|
|
rs768215986 CA2795047 |
798 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs746471576 CA91094834 |
798 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001230174 rs746471576 CA2795046 |
798 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2795048 RCV001223570 rs546425862 |
799 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs559964930 CA2795049 RCV000760504 |
801 | Q>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1348351190 CA355920493 |
802 | N>K | No |
ClinGen gnomAD |
|
|
rs760105867 CA2795053 |
804 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA355920503 rs760105867 |
804 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA2795054 rs767951010 RCV001238598 |
805 | K>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs775452288 CA2795055 |
806 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1286551313 CA355920537 |
809 | A>T | No |
ClinGen gnomAD |
|
|
CA2795057 rs764046233 |
809 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765188397 CA2795060 |
812 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs750174591 CA2795061 |
813 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438757540 CA355920568 |
814 | Y>C | No |
ClinGen gnomAD |
|
|
CA2795062 rs758425161 |
814 | Y>H | No |
ClinGen ExAC |
|
|
rs1381358159 CA355920598 |
818 | V>A | No |
ClinGen gnomAD |
|
|
rs780093024 CA2795063 |
818 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2795065 rs754557819 |
819 | K>* | No |
ClinGen ExAC |
|
|
rs1349825834 CA355920612 |
821 | L>M | No |
ClinGen gnomAD |
|
|
RCV001346140 rs752433299 |
824 | K>missing | No |
ClinVar dbSNP |
|
|
rs1244980382 CA355920643 |
825 | E>A | No |
ClinGen TOPMed |
|
|
CA2795070 RCV001326154 rs368110918 |
826 | E>K | Variant assessed as Somatic; 4.733e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA355920649 rs368110918 |
826 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355920663 rs1444868316 |
828 | E>K | No |
ClinGen gnomAD |
|
|
rs1239758901 CA355920673 |
829 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA355920682 rs1577311408 |
830 | V>G | No |
ClinGen Ensembl |
|
|
rs769435109 CA2795073 |
831 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2795071 rs747897473 |
831 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769435109 CA2795072 |
831 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746179590 CA2795074 |
833 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs376829100 CA2795104 |
836 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2795105 rs751311259 |
838 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355920738 rs751311259 |
838 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355920770 rs1160263275 |
842 | G>D | No |
ClinGen TOPMed |
|
|
CA355920772 rs1160263275 |
842 | G>V | No |
ClinGen TOPMed |
|
|
CA2795108 rs752232854 |
843 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs367709559 CA2795107 |
843 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355920778 rs1199565925 |
844 | P>A | No |
ClinGen gnomAD |
|
|
rs777239497 CA2795110 |
845 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540571001 CA2795111 |
846 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2795112 rs540571001 |
846 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1486175729 CA355920788 |
846 | P>S | No |
ClinGen gnomAD |
|
|
rs975549043 CA91096520 |
847 | K>R | No |
ClinGen TOPMed |
|
|
CA355920812 rs141647790 |
850 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2795115 rs745390296 |
853 | I>E | No |
ClinGen ExAC gnomAD |
|
|
CA355920839 rs1286742972 |
854 | L>M | No |
ClinGen TOPMed |
|
|
rs1738347357 RCV001340568 |
855 | L>R | No |
ClinVar dbSNP |
2 associated diseases with P35913
[MIM: 613801]: Retinitis pigmentosa 40 (RP40)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:8394174, ECO:0000269|PubMed:8557257, ECO:0000269|PubMed:8595886, ECO:0000269|PubMed:8698075, ECO:0000269|PubMed:8956055, ECO:0000269|PubMed:9543643}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 163500]: Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2)
A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:8075643}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:8394174, ECO:0000269|PubMed:8557257, ECO:0000269|PubMed:8595886, ECO:0000269|PubMed:8698075, ECO:0000269|PubMed:8956055, ECO:0000269|PubMed:9543643}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:8075643}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P35913
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain | 481 - 814 | IPR002073 |
| domain | GAF domain | 71 - 230 | IPR003018-1 |
| domain | GAF domain | 252 - 439 | IPR003018-2 |
| domain | HD/PDEase domain | 554 - 741 | IPR003607 |
| conserved_site | 3'5'-cyclic nucleotide phosphodiesterase, conserved site | 597 - 608 | IPR023174 |
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| photoreceptor disc membrane | Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane. |
| photoreceptor outer segment membrane | The membrane surrounding the outer segment of a vertebrate photoreceptor. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 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. |
| metal ion binding | Binding to a metal ion. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
| 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. |
| retina development in camera-type eye | The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. |
| retinal cell apoptotic process | Any apoptotic process in a retinal cell. |
| 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. |
35 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 |
| P33726 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Canis lupus familiaris (Dog) (Canis familiaris) | 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 |
| P51160 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Homo sapiens (Human) | PR |
| O76074 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Homo sapiens (Human) | EV |
| 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 |
| P23440 | Pde6b | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Mus musculus (Mouse) | PR |
| 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 |
| MSLSEEQARS | FLDQNPDFAR | QYFGKKLSPE | NVAAACEDGC | PPDCDSLRDL | CQVEESTALL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELVQDMQESI | NMERVVFKVL | RRLCTLLQAD | RCSLFMYRQR | NGVAELATRL | FSVQPDSVLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DCLVPPDSEI | VFPLDIGVVG | HVAQTKKMVN | VEDVAECPHF | SSFADELTDY | KTKNMLATPI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MNGKDVVAVI | MAVNKLNGPF | FTSEDEDVFL | KYLNFATLYL | KIYHLSYLHN | CETRRGQVLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WSANKVFEEL | TDIERQFHKA | FYTVRAYLNC | ERYSVGLLDM | TKEKEFFDVW | SVLMGESQPY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SGPRTPDGRE | IVFYKVIDYV | LHGKEEIKVI | PTPSADHWAL | ASGLPSYVAE | SGFICNIMNA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SADEMFKFQE | GALDDSGWLI | KNVLSMPIVN | KKEEIVGVAT | FYNRKDGKPF | DEQDEVLMES |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LTQFLGWSVM | NTDTYDKMNK | LENRKDIAQD | MVLYHVKCDR | DEIQLILPTR | ARLGKEPADC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DEDELGEILK | EELPGPTTFD | IYEFHFSDLE | CTELDLVKCG | IQMYYELGVV | RKFQIPQEVL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VRFLFSISKG | YRRITYHNWR | HGFNVAQTMF | TLLMTGKLKS | YYTDLEAFAM | VTAGLCHDID |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HRGTNNLYQM | KSQNPLAKLH | GSSILERHHL | EFGKFLLSEE | TLNIYQNLNR | RQHEHVIHLM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DIAIIATDLA | LYFKKRAMFQ | KIVDESKNYQ | DKKSWVEYLS | LETTRKEIVM | AMMMTACDLS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AITKPWEVQS | KVALLVAAEF | WEQGDLERTV | LDQQPIPMMD | RNKAAELPKL | QVGFIDFVCT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FVYKEFSRFH | EEILPMFDRL | QNNRKEWKAL | ADEYEAKVKA | LEEKEEEERV | AAKKVGTEIC |
| 850 | |||||
| NGGPAPKSST | CCIL |