P29973
PR
Gene name |
CNGA1 (CNCG, CNCG1) |
Protein name |
cGMP-gated cation channel alpha-1 |
Names |
Cyclic nucleotide-gated cation channel 1, Cyclic nucleotide-gated channel alpha-1, CNG channel alpha-1, CNG-1, CNG1, Cyclic nucleotide-gated channel, photoreceptor, Rod photoreceptor cGMP-gated channel subunit alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1259 |
EC number |
|
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
13 structures for P29973
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7LFT | EM | 260 A | A/B/C/D | 140-686 | PDB |
| 7LFW | EM | 290 A | A/B/C/D | 140-686 | PDB |
| 7LFX | EM | 310 A | A/B/C/D | 140-686 | PDB |
| 7LFY | EM | 360 A | A/B/C/D | 140-686 | PDB |
| 7LG1 | EM | 270 A | A/B/C/D | 140-686 | PDB |
| 7RH9 | EM | 261 A | A/C/D | 140-686 | PDB |
| 7RHG | EM | 288 A | A/C/D | 140-686 | PDB |
| 7RHH | EM | 331 A | A/C/D | 140-686 | PDB |
| 7RHI | EM | 331 A | A/C/D | 140-686 | PDB |
| 7RHJ | EM | 288 A | A/C/D | 140-686 | PDB |
| 7RHK | EM | 327 A | A/C/D | 140-686 | PDB |
| 7RHL | EM | 303 A | A/C/D | 140-686 | PDB |
| AF-P29973-F1 | Predicted | AlphaFoldDB |
584 variants for P29973
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001145411 CA96700302 rs981071919 |
12 | F>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001075248 RCV001002956 RCV001268020 rs199636364 RCV000662351 CA2911393 |
28 | R>* | Retinitis pigmentosa 49 Retinitis pigmentosa Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs76537883 VAR_009295 RCV001511560 CA2911392 RCV000398051 |
28 | R>Q | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356836484 RCV001075406 rs1237954156 |
35 | C>* | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001008797 rs527236058 RCV000132620 RCV000490404 |
60 | G>missing | Retinitis pigmentosa 49 Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515267 CA245890 RCV000178710 RCV000344585 rs201031527 |
60 | G>V | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778732 CA356834916 rs1490804242 |
74 | Q>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000018438 rs121909599 CA126986 |
76 | E>* | Retinitis pigmentosa 49 Retinitis pigmentosa 49 (rp49) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000490509 RCV002500683 rs749012133 RCV001073700 RCV001008796 |
85 | L>missing | Retinitis pigmentosa 49 Retinitis pigmentosa Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560621807 RCV001002955 |
102 | K>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000153037 RCV001518008 CA179889 rs28642966 VAR_009296 RCV000402609 VAR_047385 |
114 | D>N | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs539600817 RCV000348268 RCV003114506 CA2911307 |
117 | E>K | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs121909600 RCV000018439 CA126988 |
139 | K>* | Retinitis pigmentosa 49 Retinitis pigmentosa 49 (rp49) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2911266 RCV001002954 RCV001223666 rs373448145 |
168 | I>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000225642 CA2911227 rs775886085 |
210 | D>V | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs759781200 RCV001054103 RCV000987444 RCV001376331 CA351306 |
214 | R>* | Retinitis pigmentosa 49 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001148175 CA2911225 RCV002559422 rs776929323 |
214 | R>Q | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs767994904 RCV000778731 |
273 | R>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367772790 CA96689421 RCV001369698 RCV001073911 |
276 | R>C | Variant assessed as Somatic; impact. Retinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs375412499 CA270042 RCV001849951 RCV000132617 |
276 | R>H | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886059423 RCV000280243 CA10621104 |
277 | M>V | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs577505007 CA2911178 RCV001148173 RCV001882455 |
283 | R>K | Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs62625014 RCV001073687 RCV000018440 RCV001197999 RCV000778730 RCV000787818 VAR_009297 CA126990 RCV000787817 RCV002504802 RCV001059719 |
316 | S>F | Retinitis pigmentosa 49 Retinitis pigmentosa Retinitis pigmentosa 49 (rp49) Retinal dystrophy Cone-rod dystrophy Retinitis pigmentosa (rp) RP49 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000132618 rs527236059 CA270044 |
326 | D>G | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs752003888 RCV001199456 |
343 | R>T | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2911149 RCV000337492 RCV001147268 rs140419673 |
344 | K>R | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356827357 CA2911145 RCV001862808 RCV001002953 rs759079269 RCV001073748 RCV001322243 |
348 | S>R | Retinal dystrophy Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2911141 RCV001147267 rs183197573 RCV001443703 |
353 | T>I | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001862522 CA2911139 rs748126956 RCV001374882 RCV001073893 |
354 | L>P | Retinitis pigmentosa 49 Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs867483436 RCV001199457 |
365 | P>T | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551707 RCV001199458 rs765792753 CA2911129 RCV001376522 |
374 | V>A | Retinitis pigmentosa 49 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002551708 RCV001199459 rs749990018 CA2911124 |
381 | G>A | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1738719686 RCV001199460 |
404 | A>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200148364 RCV001147266 RCV001362393 CA2911108 RCV002559416 |
413 | I>V | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228205 CA2911107 RCV001075049 rs369717052 |
420 | R>* | Variant assessed as Somatic; 0.0 impact. Retinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000490331 CA2911106 RCV001509705 RCV000987443 rs192912733 |
420 | R>Q | Retinitis pigmentosa 49 Retinitis pigmentosa Retinitis pigmentosa 49 (rp49) Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2911101 RCV001147265 RCV000484265 rs762935052 |
433 | W>L | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001073750 RCV001054102 rs772867912 |
443 | T>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749947364 RCV002032374 RCV001147264 CA2911087 |
464 | N>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001323744 RCV000205113 CA349312 rs759487836 |
474 | R>H | Malignant tumor of prostate Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001075232 rs1738698692 |
479 | C>R | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2911072 rs374880057 RCV000324708 |
488 | V>A | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1738695098 RCV001074010 |
492 | Q>P | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002489723 RCV001075247 rs372770176 RCV001862604 CA2911065 |
500 | D>G | Retinitis pigmentosa Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1009901175 CA96688521 RCV001073712 RCV002554675 |
509 | G>E | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199584830 CA2911061 RCV001376521 RCV000225417 RCV001246009 RCV000505102 RCV002478826 |
510 | R>* | Retinitis pigmentosa 49 Retinitis pigmentosa Retinitis pigmentosa 49 (rp49) Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001854794 RCV000225524 CA2911059 rs761947277 |
512 | M>R | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356825120 rs373946784 RCV000844915 |
524 | A>P | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA96688450 RCV001073749 rs1018800266 RCV001862519 |
528 | V>I | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000264829 CA2911042 rs370912894 RCV001349798 |
536 | D>N | Variant assessed as Somatic; 0.0 impact. Retinitis Pigmentosa, Recessive [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA356824868 rs1578059695 RCV001002952 |
540 | F>C | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132619 CA270046 RCV001857475 rs527236057 |
541 | G>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000504735 rs567961453 RCV001857216 CA2911032 |
556 | R>* | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Retinitis pigmentosa (rp) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs151223668 RCV001862518 RCV001073736 CA2911031 |
558 | T>M | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1738673948 RCV001074497 |
563 | S>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10621162 RCV000328261 rs886059422 |
571 | C>Y | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001073711 RCV001724230 RCV001236237 rs768694789 |
582 | T>missing | Retinitis pigmentosa Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375049806 RCV003145426 RCV002562615 RCV001226840 CA2911018 |
590 | M>V | Retinitis pigmentosa 49 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2911003 RCV002499434 rs376959147 RCV001248447 |
625 | R>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2911002 rs373782782 RCV002553115 RCV001045017 |
625 | R>Q | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002504496 RCV001319885 CA2910998 rs756433866 |
633 | L>R | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2910997 RCV001381268 rs750954043 RCV000778729 |
639 | R>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA96700330 rs866375716 |
3 | N>I | No |
ClinGen Ensembl |
|
|
CA356836784 rs1259820486 |
5 | I>N | No |
ClinGen gnomAD |
|
|
RCV001231715 CA356836782 rs1259820486 |
5 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs760929254 CA2911403 |
6 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2911404 rs534317245 RCV001219951 |
6 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs772481945 CA2911401 |
10 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs772481945 RCV001305694 |
10 | Q>K | No |
ClinVar dbSNP |
|
|
rs1202147662 CA356836677 |
13 | V>I | No |
ClinGen TOPMed |
|
|
rs962604071 CA96700287 |
14 | T>A | No |
ClinGen TOPMed |
|
|
rs1458520292 CA356836657 |
14 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911398 rs774780336 |
17 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748755294 CA356836615 |
17 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2911397 rs768157440 |
17 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779778468 CA2911395 |
19 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034698604 CA96700229 |
21 | P>T | No |
ClinGen Ensembl |
|
|
CA356836572 rs1398996857 |
23 | I>V | No |
ClinGen gnomAD |
|
|
rs1379819494 CA356836555 |
25 | K>T | No |
ClinGen gnomAD |
|
|
rs377132724 CA2911390 |
30 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578078398 CA356836524 |
30 | M>V | No |
ClinGen Ensembl |
|
|
rs80034294 CA96700184 |
33 | G>* | No |
ClinGen Ensembl |
|
|
CA356836489 rs1578078378 |
35 | C>R | No |
ClinGen Ensembl |
|
|
CA356836481 rs1212211403 |
36 | S>G | No |
ClinGen gnomAD |
|
|
CA356835719 rs1300146808 |
37 | S>F | No |
ClinGen TOPMed |
|
|
CA2911372 rs777692611 |
38 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1340398264 CA356835693 |
39 | S>A | No |
ClinGen gnomAD |
|
|
CA356835691 rs1340398264 |
39 | S>T | No |
ClinGen gnomAD |
|
|
CA356835631 rs1401884636 |
42 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 43 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370181922 CA2911369 |
46 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA96699467 rs1042383 |
46 | S>Y | No |
ClinGen Ensembl |
|
|
CA356835528 rs1304247434 |
47 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942474540 CA96699463 |
50 | E>D | No |
ClinGen TOPMed |
|
|
rs906420383 CA96699458 |
51 | S>P | No |
ClinGen Ensembl |
|
|
rs375481961 CA2911367 |
52 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2911365 rs762187089 CA2911366 |
55 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291858210 CA356835301 |
56 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2911364 rs200810027 |
56 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372341480 CA2911363 |
57 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1478506166 CA356835266 |
58 | A>P | No |
ClinGen gnomAD |
|
|
RCV001241314 rs757969694 |
60 | G>C | No |
ClinVar dbSNP |
|
|
rs201031527 CA356835219 |
60 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757969694 CA96699398 |
60 | G>S | No |
ClinGen Ensembl |
|
|
rs1578076849 CA356835178 |
62 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911362 rs776048604 |
63 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs769198976 CA2911361 |
65 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA356835046 rs1317730341 |
68 | R>G | No |
ClinGen gnomAD |
|
|
CA2911360 rs759049596 |
69 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96699359 rs867446529 |
70 | G>E | No |
ClinGen Ensembl |
|
|
CA2911359 rs375993772 |
70 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186611254 CA2911358 |
71 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1369941342 CA356834946 |
72 | P>L | No |
ClinGen gnomAD |
|
|
CA356834961 rs1315086330 |
72 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV001306296 CA356834955 rs1315086330 |
72 | P>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs771980222 CA2911355 |
74 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001240425 rs898266295 CA96698369 |
76 | E>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2911341 rs121909599 |
76 | E>K | Retinitis pigmentosa 49 (rp49) [Ensembl] | No |
ClinGen ESP ExAC gnomAD |
|
rs1023439906 CA96698354 |
77 | Q>P | No |
ClinGen TOPMed |
|
|
rs1436425494 CA356834547 |
78 | Y>* | No |
ClinGen gnomAD |
|
|
rs370983023 RCV001203254 CA2911339 |
83 | I>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA356834450 rs1238418426 |
84 | A>S | No |
ClinGen gnomAD |
|
|
CA356834446 rs1238418426 |
84 | A>T | No |
ClinGen gnomAD |
|
|
CA2911338 rs760462644 |
84 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA356834427 rs530208903 |
85 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530208903 CA2911336 |
85 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356834352 rs1284059893 |
89 | N>Y | No |
ClinGen gnomAD |
|
|
CA2911333 rs778736952 |
91 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768687517 CA2911332 |
92 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1055857820 CA96698305 |
93 | N>S | No |
ClinGen Ensembl |
|
|
rs781312301 CA2911330 |
95 | D>E | No |
ClinGen ExAC |
|
|
rs749149075 CA356834214 |
95 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749149075 CA2911331 |
95 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356834188 rs1560624914 |
96 | Q>K | No |
ClinGen Ensembl |
|
|
CA96693964 rs1023306743 |
98 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1023306743 CA356832479 |
98 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA96693969 rs79647861 |
98 | P>T | No |
ClinGen Ensembl |
|
|
rs766004809 CA2911322 |
101 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2911321 rs760198986 |
102 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1357232779 CA356832437 |
104 | K>E | No |
ClinGen gnomAD |
|
|
CA356832434 rs1276261054 |
104 | K>N | No |
ClinGen gnomAD |
|
|
rs1057518486 RCV000413649 CA16042567 |
104 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356832420 rs1398818310 |
106 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356832419 rs1398818310 |
106 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 107 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911320 rs773033454 |
108 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA96693916 rs773033454 |
108 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA356832394 RCV001326653 rs952618231 |
110 | S>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1389575721 CA356832392 |
110 | S>N | No |
ClinGen gnomAD |
|
|
rs952618231 CA96693906 |
110 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1271366557 CA356832355 |
113 | D>E | No |
ClinGen gnomAD |
|
|
rs748314222 CA2911310 |
114 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2911311 rs758688361 |
114 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2911308 rs755244560 |
116 | N>K | No |
ClinGen ExAC TOPMed |
|
|
CA356832328 rs1458761447 |
117 | E>D | No |
ClinGen gnomAD |
|
|
rs28642966 VAR_047385 |
118 | N>D | No |
UniProt dbSNP |
|
|
rs766955357 CA2911306 |
118 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA356832323 rs1298952249 |
118 | N>S | No |
ClinGen Ensembl |
|
|
CA2911305 rs755705235 |
119 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1213631101 CA356832305 |
121 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA96693814 rs868453867 |
122 | P>T | No |
ClinGen Ensembl |
|
|
CA356832278 rs1247475814 |
124 | K>N | No |
ClinGen gnomAD |
|
|
CA96693805 rs889829783 |
125 | K>E | No |
ClinGen TOPMed |
|
|
CA2911304 rs766903165 |
125 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2911303 rs761590177 |
126 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356832262 rs1197786545 |
127 | K>E | No |
ClinGen gnomAD |
|
|
CA2911301 RCV001213147 rs773862362 |
127 | K>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1275057708 CA356832252 |
128 | K>E | No |
ClinGen gnomAD |
|
|
CA2911300 rs763963244 |
129 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553930021 CA356832191 |
132 | E>* | No |
ClinGen Ensembl |
|
|
rs867857102 CA96693794 |
132 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 133 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911299 rs775436707 |
134 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775436707 CA2911298 |
134 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380502778 CA356832159 |
134 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 135 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356832120 rs1374201182 |
137 | E>K | No |
ClinGen gnomAD |
|
|
CA356832038 rs1448010735 |
143 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2911296 rs769774868 |
143 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA96693756 rs1043046270 |
145 | E>G | No |
ClinGen TOPMed |
|
|
CA356831974 rs1350198455 |
146 | E>A | No |
ClinGen gnomAD |
|
|
CA356831847 rs1578066976 |
147 | E>K | No |
ClinGen Ensembl |
|
|
rs762758257 CA2911281 |
148 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA2911280 rs752531208 |
149 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2911276 rs776379497 |
152 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2911277 rs759527602 |
152 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2911275 rs772202043 |
154 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs761762421 CA2911274 |
155 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1242819719 CA356831731 |
156 | P>S | No |
ClinGen TOPMed |
|
|
CA2911272 rs769046389 |
157 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1310945611 CA356831707 |
158 | G>R | No |
ClinGen gnomAD |
|
|
rs1185349642 CA356831684 |
159 | N>K | No |
ClinGen TOPMed |
|
|
RCV001207772 rs1739117918 |
160 | T>R | No |
ClinVar dbSNP |
|
|
rs1390121708 CA356831670 |
161 | Y>H | No |
ClinGen TOPMed |
|
|
rs1295690419 CA356831609 |
164 | W>C | No |
ClinGen gnomAD |
|
|
CA96693093 rs1052230058 |
164 | W>R | No |
ClinGen TOPMed |
|
|
CA2911268 rs746399774 |
165 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs781484513 CA2911267 |
166 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578066864 CA356831590 |
166 | F>V | No |
ClinGen Ensembl |
|
|
rs1323747794 CA356831569 |
167 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1162369775 CA356831546 |
169 | T>S | No |
ClinGen gnomAD |
|
|
rs1166612130 CA356831511 |
172 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1166612130 CA356831510 |
172 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750983363 CA356831452 |
175 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs777235692 CA2911264 |
176 | W>* | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs758115366 CA2911263 |
176 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
RCV001054936 rs1476546899 |
177 | T>missing | No |
ClinVar dbSNP |
|
|
CA2911262 rs192411346 |
178 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs192411346 RCV001345045 |
178 | M>T | No |
ClinVar dbSNP |
|
|
rs566735021 CA2911260 |
180 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753848348 CA2911259 |
180 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1285032547 CA356831372 |
182 | R>I | No |
ClinGen TOPMed |
|
|
CA356831192 rs1327601687 |
183 | A>E | No |
ClinGen gnomAD |
|
|
rs1373475487 CA356831199 |
183 | A>P | No |
ClinGen gnomAD |
|
|
CA2911234 rs754827700 |
184 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs753628252 CA2911233 |
189 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769062399 CA96691990 |
196 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911229 RCV000732336 rs764278660 |
202 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001338957 rs1739028112 |
203 | S>P | No |
ClinVar dbSNP |
|
|
CA2911228 rs763060262 |
205 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1177114201 CA356830851 |
205 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356830852 rs1177114201 |
205 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001312564 CA356830822 rs1198139574 |
210 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA356830810 rs1578065365 |
211 | M>T | No |
ClinGen Ensembl |
|
|
CA2911226 rs765505542 |
213 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2911223 rs747484315 |
216 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA356830776 rs1560619924 |
217 | T>S | No |
ClinGen Ensembl |
|
|
rs1302809943 CA356830770 |
218 | G>S | No |
ClinGen gnomAD |
|
|
rs758573260 CA356828926 |
219 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767521498 CA2911212 |
219 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs752871155 CA2911210 |
220 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2911209 rs200766377 |
222 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 223 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759736707 CA2911208 |
223 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA356828766 rs1379954205 |
226 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 227 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911205 rs761061038 |
228 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356828708 rs761061038 |
228 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356828546 rs1578061625 |
233 | I>T | No |
ClinGen Ensembl |
|
|
CA2911203 rs772619232 |
239 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2911201 rs773914693 |
240 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2911200 rs748902647 |
241 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748902647 CA2911199 |
241 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 245 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356828310 rs1578061573 |
246 | V>I | No |
ClinGen Ensembl |
|
|
rs1004761809 CA96689534 |
251 | P>S | No |
ClinGen TOPMed |
|
|
CA356828262 rs1206638374 |
252 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356828263 rs1206638374 |
252 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374697239 CA96689529 |
254 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356828252 rs1354051567 |
254 | L>V | No |
ClinGen gnomAD |
|
|
CA2911195 rs745609370 |
260 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781110930 CA2911194 |
261 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2911193 rs751530506 |
261 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2911192 rs751530506 |
261 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs778874113 CA2911191 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2911190 rs755019047 |
263 | Y>H | No |
ClinGen ExAC |
|
|
rs754039741 CA2911189 |
264 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1273672526 CA356828176 |
265 | E>V | No |
ClinGen TOPMed |
|
|
rs760868392 CA2911187 CA356828154 |
268 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356828152 rs1166285292 |
269 | N>D | No |
ClinGen gnomAD |
|
|
CA356828150 rs1463417081 |
269 | N>S | No |
ClinGen gnomAD |
|
|
rs750829222 CA2911186 |
270 | R>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001058967 CA356828144 rs1170003583 |
270 | R>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1475803857 CA356828135 |
271 | L>W | No |
ClinGen gnomAD |
|
|
rs371238926 RCV000483259 CA2911182 |
273 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001314936 rs999576624 CA96689436 |
273 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs774860626 CA2911181 |
274 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2911180 rs138053512 |
278 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356828076 rs1256044975 |
280 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372314713 CA2911179 |
282 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577505007 CA2911177 |
283 | R>I | Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1007483699 CA96689391 |
286 | T>P | No |
ClinGen TOPMed |
|
|
rs770794275 CA2911175 |
287 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327058441 CA356828007 |
291 | P>T | No |
ClinGen gnomAD |
|
|
CA2911173 rs777726635 |
293 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2911172 rs552783293 |
296 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868391338 CA96689320 |
297 | S>F | No |
ClinGen Ensembl |
|
|
CA356827955 rs1328717158 |
298 | N>K | No |
ClinGen gnomAD |
|
|
rs1560617740 CA356827957 |
298 | N>S | No |
ClinGen Ensembl |
|
|
rs754002570 CA2911171 |
301 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA356827938 rs1475259449 |
301 | M>T | No |
ClinGen gnomAD |
|
|
CA10606410 rs534487862 RCV000360368 |
302 | Y>H | No |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
| TCGA novel | 303 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756398915 CA2911169 |
304 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775825837 CA96689286 |
305 | I>V | No |
ClinGen Ensembl |
|
|
rs567427901 CA2911168 |
307 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1560617687 CA356827888 |
308 | H>Q | No |
ClinGen Ensembl |
|
|
CA356827892 rs1469616197 |
308 | H>R | No |
ClinGen gnomAD |
|
|
CA2911166 rs762095051 |
311 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1215736269 CA356827865 |
312 | C>S | No |
ClinGen TOPMed |
|
|
CA356827861 rs1288031179 |
312 | C>Y | No |
ClinGen TOPMed |
|
|
rs1198214424 CA356827857 |
313 | V>M | No |
ClinGen gnomAD |
|
|
CA356827839 rs1303643864 |
315 | Y>F | No |
ClinGen gnomAD |
|
|
rs914018863 CA96689262 |
315 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2911163 rs62625014 RCV001242660 |
316 | S>C | Retinitis pigmentosa 49 (rp49) Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1236990671 CA356827834 |
316 | S>P | No |
ClinGen gnomAD |
|
|
CA2911162 rs764834521 |
320 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370559396 CA2911161 |
323 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2911160 rs770880423 |
327 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356827662 rs1229050008 |
329 | V>D | No |
ClinGen Ensembl |
|
|
rs1303242394 CA356827621 |
332 | D>Y | No |
ClinGen gnomAD |
|
|
RCV001071551 rs377508142 CA2911159 |
333 | I>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001341927 rs759687707 CA96689180 |
336 | P>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA96689168 CA2911157 rs772091709 |
337 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356827534 rs1560617571 RCV001301408 |
337 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2911155 rs780241363 |
339 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2911156 rs748034014 |
339 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2911154 rs756125453 |
340 | R>C | Variant assessed as Somatic; 9.278e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000905364 rs150374036 CA2911153 |
340 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2911152 rs781347335 |
341 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2911151 rs757637308 |
342 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2911150 rs752003888 |
343 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs752003888 CA356827445 |
343 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs376177601 CA2911147 RCV001206167 |
346 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA96689094 rs376177601 |
346 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764845127 CA356827366 |
348 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs764845127 CA2911146 |
348 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs776445769 CA2911144 |
349 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766184739 CA2911143 |
350 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2911142 rs760217797 |
351 | W>C | No |
ClinGen ExAC |
|
|
CA2911140 rs771754004 |
354 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96689033 rs749874187 |
359 | I>T | No |
ClinGen gnomAD |
|
|
CA96689021 rs965734036 |
360 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA96689027 rs536327629 |
360 | G>R | No |
ClinGen Ensembl |
|
|
CA356827137 rs1258871979 |
363 | P>L | No |
ClinGen TOPMed |
|
|
CA96688988 rs999544084 |
363 | P>T | No |
ClinGen Ensembl |
|
| rs1428479359 | 364 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757509793 CA2911134 |
365 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867483436 CA96688983 |
365 | P>S | No |
ClinGen Ensembl |
|
|
rs758625358 CA2911131 |
366 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356827067 rs1319054360 |
368 | D>E | No |
ClinGen gnomAD |
|
|
CA356827024 rs1233137805 |
372 | V>I | No |
ClinGen gnomAD |
|
|
rs1295260012 CA356826997 |
374 | V>M | No |
ClinGen gnomAD |
|
|
CA356826989 rs1289621744 |
375 | V>L | No |
ClinGen gnomAD |
|
|
CA356826980 rs1474465510 |
376 | V>A | No |
ClinGen gnomAD |
|
|
CA356826982 rs1474465510 |
376 | V>G | No |
ClinGen gnomAD |
|
|
CA356826985 rs1560617326 |
376 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 377 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760437638 CA2911125 |
378 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911123 rs767346086 |
383 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1418458611 CA356826900 |
384 | I>V | No |
ClinGen gnomAD |
|
|
rs1249722048 CA356826852 |
387 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2911120 rs774292169 |
388 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761470459 CA2911121 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356826829 rs762844454 |
389 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762844454 CA2911118 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001039360 CA356826785 rs1213442244 |
392 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2911117 RCV001349212 rs562266812 |
392 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs770901877 CA2911116 |
393 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA356826767 rs1275559044 |
394 | S>A | No |
ClinGen gnomAD |
|
|
rs1216905031 CA356826740 |
395 | M>I | No |
ClinGen gnomAD |
|
|
CA356826748 rs1560617220 |
395 | M>K | No |
ClinGen Ensembl |
|
|
rs200157946 CA2911115 |
398 | N>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001299951 CA2911114 rs777818344 |
399 | M>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2911113 rs772508507 |
401 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs779391842 CA2911111 |
402 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439854780 CA356826576 |
405 | E>V | No |
ClinGen gnomAD |
|
|
rs755612603 CA2911110 |
407 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96688850 rs903791783 |
408 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1281656808 CA356826509 |
409 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA356826491 rs1371928519 |
410 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2911109 rs754385864 |
410 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199253278 CA356826462 |
412 | A>T | No |
ClinGen TOPMed |
|
|
CA356826442 rs1438778416 |
413 | I>M | No |
ClinGen TOPMed |
|
|
CA356826436 rs1429989982 |
414 | K>E | No |
ClinGen gnomAD |
|
|
rs1182035539 CA356826419 |
415 | Q>K | No |
ClinGen TOPMed |
|
|
rs1381823986 CA356826412 |
415 | Q>P | No |
ClinGen TOPMed |
|
|
CA96688843 rs1050696484 |
417 | M>T | No |
ClinGen Ensembl |
|
|
rs1009438460 CA96688839 |
425 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 425 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911105 rs767025982 |
425 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356826212 rs1560617118 |
426 | M>T | No |
ClinGen Ensembl |
|
|
rs761502235 CA2911104 |
427 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2911103 rs751394076 RCV001240310 |
429 | R>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs751394076 CA96688828 |
429 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1292231725 RCV001230033 |
429 | R>S | No |
ClinVar dbSNP |
|
|
rs892301890 CA356826155 |
430 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs892301890 CA96688817 |
430 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 432 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911102 rs762935052 |
433 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401183436 CA356826077 |
435 | D>G | No |
ClinGen TOPMed |
|
|
CA356826083 rs1302904073 |
435 | D>N | No |
ClinGen gnomAD |
|
|
CA2911099 rs771075850 RCV001295771 |
437 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA356826049 rs1578060294 |
438 | W>* | No |
ClinGen Ensembl |
|
|
CA2911098 rs200583020 RCV000998236 |
438 | W>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 443 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772867912 | 443 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772867912 | 443 | T>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773321505 CA2911097 |
443 | T>R | No |
ClinGen ExAC |
|
|
rs575292558 CA2911095 |
444 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575292558 CA96688731 |
444 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356825979 rs1298298163 |
448 | E>Q | No |
ClinGen gnomAD |
|
|
CA2911093 rs748380011 |
449 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172573663 CA356825951 |
452 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356825937 rs1397351200 |
454 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 456 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911090 rs749821126 |
457 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs939558963 CA96688705 |
459 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1179059788 CA356825886 |
462 | A>T | No |
ClinGen gnomAD |
|
|
CA2911088 rs755667478 |
462 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96688671 rs983435442 RCV001305160 |
465 | V>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA356825866 rs983435442 |
465 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1257602287 CA356825860 |
466 | H>Y | No |
ClinGen gnomAD |
|
|
rs1434427970 CA356825851 |
467 | L>S | No |
ClinGen TOPMed |
|
|
CA2911082 CA2911081 rs369602927 |
472 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765136329 CA2911080 |
474 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356825803 rs759487836 |
474 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966680788 CA96688638 |
476 | F>L | No |
ClinGen gnomAD |
|
|
rs1376876607 CA356825788 |
477 | A>T | No |
ClinGen gnomAD |
|
|
CA2911079 rs773232695 |
477 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA356825735 rs1161842382 |
482 | G>S | No |
ClinGen gnomAD |
|
|
CA2911075 rs769177401 |
485 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1259872554 CA356825684 |
486 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754395605 CA96688544 |
493 | P>L | No |
ClinGen Ensembl |
|
|
CA356825549 rs1334741064 |
495 | V>A | No |
ClinGen Ensembl |
|
|
CA2911066 rs777356394 |
499 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 500 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160651707 CA356825449 |
502 | I>M | No |
ClinGen gnomAD |
|
|
CA2911064 rs752477071 |
504 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1417745126 CA356825416 |
505 | K>Q | No |
ClinGen gnomAD |
|
|
rs1165799316 CA356825389 |
507 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265699955 CA356825371 |
508 | I>V | No |
ClinGen TOPMed |
|
|
CA2911062 rs544588016 |
509 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767503938 CA2911060 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2911058 rs774732831 |
515 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1272432423 CA356825239 |
517 | E>* | No |
ClinGen gnomAD |
|
|
CA356825174 rs763233407 |
520 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2911056 rs763233407 |
520 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770180675 CA2911054 |
521 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323023562 CA356825138 |
522 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs577544200 RCV001064852 CA2911053 |
522 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2911052 rs373946784 |
524 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394431799 CA356825114 |
524 | A>V | No |
ClinGen gnomAD |
|
|
CA356825086 rs1327104116 |
526 | D>G | No |
ClinGen gnomAD |
|
|
CA356825078 rs1276893676 |
527 | G>R | No |
ClinGen TOPMed |
|
|
CA356825068 RCV001201764 rs1560616640 |
527 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2911051 rs770457952 |
528 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1018800266 CA96688437 |
528 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2911048 rs552871598 |
533 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753754324 CA2911045 |
534 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2911046 rs778589744 |
534 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1252312954 CA356824962 |
535 | S>N | No |
ClinGen gnomAD |
|
|
CA356824916 rs1270340881 |
538 | S>G | No |
ClinGen gnomAD |
|
|
CA356824877 rs1560616550 RCV000733692 |
539 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001223667 CA2911040 rs373120472 |
541 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1232575929 CA356824836 |
542 | E>D | No |
ClinGen gnomAD |
|
|
rs752905054 CA2911039 |
545 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752905054 CA356824790 |
545 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 547 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356824717 rs1328325910 |
548 | I>M | No |
ClinGen gnomAD |
|
|
rs759904304 CA96688299 |
548 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2911037 rs759904304 |
548 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2911038 rs765523630 |
548 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001068843 rs1738677183 |
550 | G>R | No |
ClinVar dbSNP |
|
|
rs776837749 CA2911036 |
551 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2911035 rs771469417 |
551 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA356824607 RCV001230796 rs1171947539 |
553 | A>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs761166989 CA2911034 |
555 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA96688276 rs867972995 |
556 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA356824527 rs1478995088 |
557 | R>S | No |
ClinGen gnomAD |
|
|
CA356824520 rs1578059573 |
558 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 559 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2911030 rs778592209 |
561 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2911029 rs768363051 |
563 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1208196079 CA356824406 |
563 | S>I | No |
ClinGen gnomAD |
|
|
rs1208196079 CA356824409 |
563 | S>N | No |
ClinGen gnomAD |
|
|
rs1346695256 CA356824399 |
563 | S>R | No |
ClinGen gnomAD |
|
|
rs749152335 CA2911028 |
564 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356824384 rs1333894838 |
564 | I>T | No |
ClinGen gnomAD |
|
|
CA356824378 rs1221266964 |
565 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201633176 CA2911027 |
566 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1361201357 CA356824329 |
567 | S>L | No |
ClinGen TOPMed |
|
|
rs750411022 CA96688181 |
568 | D>E | No |
ClinGen Ensembl |
|
|
rs1352342372 CA356824118 |
577 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1352342372 CA356824120 |
577 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1415773374 CA356824087 |
578 | M>I | No |
ClinGen TOPMed |
|
|
CA2911024 rs750370709 |
578 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA2911021 rs758436235 |
585 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2911022 rs778010980 |
585 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356823901 rs1226215628 |
587 | A>T | No |
ClinGen TOPMed |
|
|
CA96688117 rs752892318 |
588 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2911020 rs752892318 |
588 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1472633518 CA356823845 |
589 | T>S | No |
ClinGen gnomAD |
|
|
rs761185333 CA356823817 TCGA novel CA2911015 |
590 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA2911017 rs766717829 |
590 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001203024 CA2911016 rs766717829 |
590 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs773644867 CA2911014 |
594 | K>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001066285 rs761341105 CA2911012 |
596 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs537196863 CA2911011 RCV001038509 |
601 | K>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA96688043 rs942857951 |
602 | D>G | No |
ClinGen TOPMed |
|
|
rs1238937393 CA356823654 |
603 | G>S | No |
ClinGen TOPMed |
|
|
CA356823644 rs1232716065 |
603 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 604 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs945651304 CA96688038 |
607 | L>V | No |
ClinGen Ensembl |
|
|
rs1482170065 CA356823580 |
608 | N>K | No |
ClinGen TOPMed |
|
|
rs1449963070 CA356823562 |
609 | I>M | No |
ClinGen gnomAD |
|
|
CA356823573 rs1304756194 |
609 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356823539 rs1381200823 |
611 | N>S | No |
ClinGen TOPMed |
|
|
CA2911007 rs769653731 CA2911008 |
614 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343143724 CA356823503 |
614 | S>R | No |
ClinGen gnomAD |
|
|
CA96688018 rs370636592 |
616 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs745803581 CA2911006 |
618 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 618 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356823426 rs1414055685 |
619 | L>F | No |
ClinGen gnomAD |
|
|
CA356823404 rs1162212187 |
620 | E>G | No |
ClinGen gnomAD |
|
|
rs781234380 CA2911005 |
622 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV001039316 CA2911004 rs758429898 |
623 | V>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA356823353 rs1183173979 |
624 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356823336 rs373782782 |
625 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 626 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356823323 rs1377258648 |
626 | M>T | No |
ClinGen TOPMed |
|
|
CA356823310 rs1209728010 |
627 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 627 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356823288 rs1466670237 |
628 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs199992510 CA2911001 |
630 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1453952323 CA356823241 |
631 | D>E | No |
ClinGen Ensembl |
|
|
rs754004038 CA2911000 |
631 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1738655838 RCV001327290 |
631 | D>Y | No |
ClinVar dbSNP |
|
|
CA2910999 rs766736379 |
632 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs756433866 CA356823227 |
633 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96687937 rs1018767693 |
636 | R>G | No |
ClinGen Ensembl |
|
|
rs189580090 CA96687931 |
638 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs768123452 CA356823183 |
639 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910996 RCV001232063 rs768123452 |
639 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 640 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910994 rs762191770 |
641 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762706687 CA356823151 |
644 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs371440311 CA2910992 |
644 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2910993 rs371440311 |
644 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376378429 CA2910990 RCV001238596 |
645 | E>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA96687875 rs867327430 |
646 | S>F | No |
ClinGen Ensembl |
|
|
CA356823137 rs549705696 |
647 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2910987 rs776545639 |
647 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910988 rs549705696 |
647 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs894837753 CA96687867 |
649 | Q>P | No |
ClinGen Ensembl |
|
|
CA356823115 rs1189644243 |
650 | K>E | No |
ClinGen gnomAD |
|
|
rs1237595082 CA356823097 |
652 | K>I | No |
ClinGen TOPMed |
|
|
rs770967964 CA2910986 |
653 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1251695870 CA356823089 |
653 | Q>H | No |
ClinGen gnomAD |
|
|
rs746908022 CA2910985 |
654 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2910984 rs566054486 |
656 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA96687830 rs540881872 |
657 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs548116727 CA2910983 |
658 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 660 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353750178 CA356823040 |
661 | F>L | No |
ClinGen gnomAD |
|
|
rs780203611 CA2910981 |
661 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756311008 CA2910980 |
662 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001043981 CA2910977 rs757837096 |
664 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2910978 RCV001349676 rs757837096 |
664 | P>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs750831228 CA2910979 |
664 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763662167 CA356822994 |
668 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763662167 CA2910975 |
668 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910974 rs762511161 |
670 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs562189832 CA2910973 |
673 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs906690014 CA96687730 |
674 | E>K | No |
ClinGen Ensembl |
|
|
rs1042583349 CA96687724 |
675 | G>* | No |
ClinGen Ensembl |
|
|
CA356822948 rs1432021443 |
675 | G>A | No |
ClinGen gnomAD |
|
|
CA2910972 rs765030943 |
676 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759258126 CA2910971 |
677 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs550339165 CA2910970 |
678 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356822927 rs1370892066 |
679 | E>G | No |
ClinGen gnomAD |
|
|
rs1328911889 CA356822911 |
681 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 682 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96687628 rs867957895 |
684 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA96687652 rs867957895 |
684 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA96687615 rs761703024 |
685 | S>A | No |
ClinGen Ensembl |
|
|
rs1207651374 CA356822886 |
685 | S>F | No |
ClinGen gnomAD |
|
|
CA356822878 rs1345977289 |
687 | T>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 687 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P29973
[MIM: 613756]: Retinitis pigmentosa 49 (RP49)
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:15570217, ECO:0000269|PubMed:7479749}. 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:15570217, ECO:0000269|PubMed:7479749}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P29973
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cyclic nucleotide-binding domain | 475 - 599 | IPR000595 |
| domain | Ion transport domain | 163 - 402 | IPR005821 |
| conserved_site | Cyclic nucleotide-binding, conserved site | 502 - 518 | IPR018488-1 |
| conserved_site | Cyclic nucleotide-binding, conserved site | 540 - 563 | IPR018488-2 |
| domain | Cyclic nucleotide-gated channel, C-terminal leucine zipper domain | 591 - 660 | IPR032406 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intracellular cyclic nucleotide activated cation channel complex | A protein complex that forms a transmembrane channel through which cations ions may pass in response to an intracellular cyclic nucleotide binding to the channel complex or one of its constituent parts. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cGMP binding | Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate). |
| intracellular cAMP-activated cation channel activity | Enables the transmembrane transfer of a cation by a channel that opens when intracellular cAMP has been bound by the channel complex or one of its constituent parts. |
| intracellular cGMP-activated cation channel activity | Enables the transmembrane transfer of a cation by a channel that opens when intracellular cGMP has been bound by the channel complex or one of its constituent parts. |
| protein-containing complex binding | Binding to a macromolecular complex. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cation transmembrane transport | The process in which a cation is transported across a membrane. |
| response to stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. |
| 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. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q03041 | CNGA2 | Cyclic nucleotide-gated olfactory channel | Bos taurus (Bovine) | PR |
| Q29441 | CNGA3 | Cyclic nucleotide-gated cation channel alpha-3 | Bos taurus (Bovine) | PR |
| Q00194 | CNGA1 | cGMP-gated cation channel alpha-1 | Bos taurus (Bovine) | PR |
| Q90805 | Cyclic nucleotide-gated channel cone photoreceptor subunit alpha | Gallus gallus (Chicken) | PR | |
| Q90980 | Cyclic nucleotide-gated channel rod photoreceptor subunit alpha | Gallus gallus (Chicken) | PR | |
| Q28279 | CNGA1 | cGMP-gated cation channel alpha-1 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| Q16280 | CNGA2 | Cyclic nucleotide-gated olfactory channel | Homo sapiens (Human) | PR |
| Q16281 | CNGA3 | Cyclic nucleotide-gated cation channel alpha-3 | Homo sapiens (Human) | PR |
| Q62398 | Cnga2 | Cyclic nucleotide-gated olfactory channel | Mus musculus (Mouse) | PR |
| Q9JJZ8 | Cnga3 | Cyclic nucleotide-gated cation channel alpha-3 | Mus musculus (Mouse) | PR |
| P29974 | Cnga1 | cGMP-gated cation channel alpha-1 | Mus musculus (Mouse) | PR |
| Q00195 | Cnga2 | Cyclic nucleotide-gated olfactory channel | Rattus norvegicus (Rat) | PR |
| Q62927 | Cnga1 | cGMP-gated cation channel alpha-1 | Rattus norvegicus (Rat) | PR |
| Q9SKD7 | CNGC3 | Probable cyclic nucleotide-gated ion channel 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SU64 | CNGC16 | Probable cyclic nucleotide-gated ion channel 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDR2 | CNGC19 | Putative cyclic nucleotide-gated ion channel 19 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKNNIINTQQ | SFVTMPNVIV | PDIEKEIRRM | ENGACSSFSE | DDDSASTSEE | SENENPHARG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SFSYKSLRKG | GPSQREQYLP | GAIALFNVNN | SSNKDQEPEE | KKKKKKEKKS | KSDDKNENKN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DPEKKKKKKD | KEKKKKEEKS | KDKKEEEKKE | VVVIDPSGNT | YYNWLFCITL | PVMYNWTMVI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARACFDELQS | DYLEYWLILD | YVSDIVYLID | MFVRTRTGYL | EQGLLVKEEL | KLINKYKSNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QFKLDVLSLI | PTDLLYFKLG | WNYPEIRLNR | LLRFSRMFEF | FQRTETRTNY | PNIFRISNLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MYIVIIIHWN | ACVFYSISKA | IGFGNDTWVY | PDINDPEFGR | LARKYVYSLY | WSTLTLTTIG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ETPPPVRDSE | YVFVVVDFLI | GVLIFATIVG | NIGSMISNMN | AARAEFQARI | DAIKQYMHFR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NVSKDMEKRV | IKWFDYLWTN | KKTVDEKEVL | KYLPDKLRAE | IAINVHLDTL | KKVRIFADCE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AGLLVELVLK | LQPQVYSPGD | YICKKGDIGR | EMYIIKEGKL | AVVADDGVTQ | FVVLSDGSYF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GEISILNIKG | SKAGNRRTAN | IKSIGYSDLF | CLSKDDLMEA | LTEYPDAKTM | LEEKGKQILM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KDGLLDLNIA | NAGSDPKDLE | EKVTRMEGSV | DLLQTRFARI | LAEYESMQQK | LKQRLTKVEK |
| 670 | 680 | ||||
| FLKPLIDTEF | SSIEGPGAES | GPIDST |