P37088
PR
Gene name |
SCNN1A (SCNN1) |
Protein name |
Amiloride-sensitive sodium channel subunit alpha |
Names |
Alpha-NaCH, Epithelial Na(+) channel subunit alpha, Alpha-ENaC, ENaCA, Nonvoltage-gated sodium channel 1 subunit alpha, SCNEA |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6337 |
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
4 structures for P37088
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2M3O | NMR | - | P | 638-648 | PDB |
| 6BQN | EM | 390 A | A | 111-543 | PDB |
| 6WTH | EM | 306 A | A | 1-669 | PDB |
| AF-P37088-F1 | Predicted | AlphaFoldDB |
654 variants for P37088
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001535836 rs1565488675 RCV000722629 |
24 | N>missing | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768767909 CA6406319 RCV000275632 RCV000333089 |
25 | K>R | Bronchiectasis with or without elevated sweat chloride 2 Variant assessed as Somatic; impact. Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_060793 CA232368710 rs61758859 |
61 | F>L | BESC2; hypoactive mutation resulting in reduction of protein expression and a significant decrease of amiloride-sensitive sodium currents [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs765835593 RCV000009845 |
68 | I>missing | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61759860 RCV000009852 CA120276 |
81 | R>C | Bronchiectasis with or without elevated sweat chloride 2 Bronchiectasis with or without elevated sweat chloride 2 (besc2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144763378 COSM144403 RCV000262243 RCV002487369 CA6406258 RCV000355088 |
107 | G>R | Bronchiectasis with or without elevated sweat chloride 2 haematopoietic_and_lymphoid_tissue Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61759861 CA120273 RCV001762041 RCV000009850 VAR_060794 |
114 | V>I | Bronchiectasis with or without elevated sweat chloride 2 Bronchiectasis with or without elevated sweat chloride 2 (besc2) BESC2; hyperactive mutation resulting in a significant increase of amiloride-sensitive sodium currents [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs141756749 RCV000714667 RCV002507252 RCV000714666 CA6406239 |
129 | A>T | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000853223 RCV000216641 RCV002515612 RCV002500693 CA10576926 rs876657425 |
181 | R>W | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA202272 RCV000177108 VAR_060795 RCV000303655 RCV000360696 rs55797039 RCV001723752 RCV002503680 |
181 | R>W | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 significant increase of amiloride-sensitive sodium currents [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001328259 rs767638989 RCV002499461 |
192 | R>missing | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000009848 rs1592074026 |
245 | V>missing | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000343569 CA6406118 rs142409152 RCV000295692 |
249 | R>K | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002482203 rs866913999 RCV001111618 CA232358416 RCV001111617 |
259 | I>M | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6406100 RCV000330908 RCV000387793 rs759933475 |
276 | G>C | Bronchiectasis with or without elevated sweat chloride 2 Variant assessed as Somatic; 0.0 impact. Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000614949 rs1555112332 |
315 | N>missing | Idiopathic bronchiectasis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886049759 RCV000371894 CA10638282 RCV000324236 |
315 | N>S | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs974854786 VAR_026518 CA232352011 |
327 | G>C | PHA1B1; results in a significant reduction of channel function as compared to wild-type; significantly lowers both Li+ and Na+ ion currents [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV002478772 rs146177203 RCV000223571 CA6406022 |
333 | R>C | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000151812 VAR_060796 RCV000271641 CA177873 RCV000310345 RCV001651019 rs11542844 |
334 | A>T | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 significant decrease of amiloride-sensitive sodium currents [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs181065138 CA6406010 RCV000363726 RCV000306669 |
350 | R>G | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs569195112 CA6405996 RCV000350992 RCV000395520 |
358 | E>G | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs193920773 CA174155 RCV000149037 COSM1179185 |
377 | I>V | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002520827 RCV000395493 RCV000312398 rs886049758 RCV002504070 CA10642250 |
393 | D>N | Bronchiectasis with or without elevated sweat chloride 2 Variant assessed as Somatic; 0.0 impact. Autosomal recessive pseudohypoaldosteronism type 1 Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6405952 RCV002518202 RCV002518203 RCV000215836 rs149484264 RCV000337981 RCV000280531 |
406 | L>I | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1565478701 RCV000988777 |
410 | K>missing | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886049757 RCV000372776 RCV000334521 CA10642247 |
414 | Q>R | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001113508 RCV002491358 RCV001113509 CA383554439 rs72657557 |
454 | G>E | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001113507 rs369382063 CA6405882 RCV001111518 |
465 | S>F | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000735319 COSM126049 rs72657556 CA6405875 RCV002536534 |
476 | R>Q | upper_aerodigestive_tract Cognitive impairment [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001535947 rs201873521 CA6405873 RCV000680280 VAR_081179 |
479 | C>R | Liddle syndrome 3 Autosomal recessive pseudohypoaldosteronism type 1 LIDLS3; increased channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001579849 rs756434927 RCV000009847 |
484 | Y>missing | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000714669 rs1565475355 RCV000714668 CA383554225 |
484 | Y>C | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000173721 RCV000009851 rs5742912 VAR_015833 RCV000264087 CA120274 RCV001528586 |
493 | W>R | Bronchiectasis with or without elevated sweat chloride 2 Bronchiectasis with or without elevated sweat chloride 2 (besc2) Autosomal recessive pseudohypoaldosteronism type 1 results in a 4-fold increase of amiloride-sensitive sodium currents; found in BESC2 patients at higher frequency than in controls; associated with an increased risk for ischemic cerebrovascular events [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148749888 RCV000728158 CA6405834 RCV000949782 RCV000385070 RCV000328262 |
495 | S>L | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148959452 RCV001109184 RCV001109185 RCV002540873 RCV000914391 CA6405804 |
507 | S>L | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137852634 COSM1224943 RCV002482850 RCV002298438 CA120270 RCV000009846 |
508 | R>* | Bronchiectasis with or without elevated sweat chloride 2 large_intestine Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs72657550 RCV000337730 CA6405774 RCV000400458 |
520 | G>A | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_015834 RCV000009849 rs137852635 RCV003162223 CA120272 |
562 | S>L | Variant assessed as Somatic; 0.0 impact. Autosomal recessive pseudohypoaldosteronism type 1 PHA1B1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs59142484 RCV001114827 VAR_060797 CA6405726 RCV001114826 RCV000892931 |
573 | V>I | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000286142 rs775290860 RCV000343386 CA6405713 |
589 | R>Q | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001114825 CA6405711 RCV000779111 rs771949339 |
591 | R>* | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6405702 RCV001113426 RCV001113425 rs755287192 |
601 | G>R | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001113423 RCV001113424 CA6405701 rs751903373 |
602 | A>V | Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA201022 VAR_022142 RCV001636709 RCV000174501 COSM126048 RCV000378232 rs3741913 RCV000339865 |
618 | C>F | Bronchiectasis with or without elevated sweat chloride 2 upper_aerodigestive_tract Bronchiectasis with or without elevated sweat chloride 2 (besc2) Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001668303 RCV000151811 VAR_015835 RCV000295920 rs2228576 RCV001807094 RCV000325126 CA177870 |
663 | T>A | Bronchiectasis with or without elevated sweat chloride 2 Liddle syndrome 3 Bronchiectasis with or without elevated sweat chloride 2 (besc2) Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA232368887 rs953601749 |
2 | E>K | No |
ClinGen TOPMed |
|
|
CA6406331 rs752387748 |
3 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1247800377 CA383560326 |
3 | G>R | No |
ClinGen gnomAD |
|
|
rs1262305703 CA383560298 |
7 | E>K | No |
ClinGen gnomAD |
|
|
rs1264181481 CA383560295 |
7 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142937915 CA6406328 |
9 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6406327 rs766263579 |
10 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 10 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868448935 CA232368862 |
11 | S>P | No |
ClinGen Ensembl |
|
|
rs868448935 CA383560270 |
11 | S>T | No |
ClinGen Ensembl |
|
|
CA232368857 rs372909867 |
12 | S>R | No |
ClinGen ESP |
|
|
CA383560242 rs1382639154 |
15 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335280234 CA383560233 |
16 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1335280234 CA383560235 |
16 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA383560227 rs1437786055 |
17 | T>I | No |
ClinGen gnomAD |
|
|
CA6406322 rs765012846 |
20 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761572575 CA6406321 |
21 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383560195 rs1361575245 |
22 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs148581573 CA6406320 |
24 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383560172 rs931090568 |
26 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs72645127 CA6406317 |
26 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs72645127 CA6406318 |
26 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6406316 rs72645127 |
26 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232368853 rs931090568 |
26 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383560163 rs1450797160 |
28 | E>K | No |
ClinGen TOPMed |
|
|
CA383560154 rs1181659852 |
29 | Q>E | No |
ClinGen gnomAD |
|
|
CA383560142 rs1466136827 |
30 | G>E | No |
ClinGen gnomAD |
|
|
CA6406314 COSM942501 rs775062010 |
31 | L>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6406313 rs771310951 |
31 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771310951 CA383560140 |
31 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406310 rs72645126 |
34 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6406309 rs746472088 |
35 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757970565 CA6406307 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750349787 CA6406306 |
36 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757014172 CA6406304 |
37 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1473852563 CA383560081 |
41 | P>S | No |
ClinGen TOPMed |
|
|
CA6406302 rs551220820 |
42 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232368783 rs1001441625 |
42 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6406299 rs759745474 |
43 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406300 rs146187461 |
43 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6406298 rs759745474 |
43 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771345288 CA6406296 |
44 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs200068111 CA6406295 |
45 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs945701189 CA232368749 |
47 | A>G | No |
ClinGen TOPMed |
|
|
RCV000722452 CA891862936 rs1565488558 |
47 | A>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6406294 rs185241340 |
48 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232368729 rs779740460 |
50 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1041436086 CA232368724 |
50 | E>D | No |
ClinGen Ensembl |
|
|
rs779740460 CA383560032 |
50 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6406291 rs779740460 |
50 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1592088782 CA383560020 |
51 | F>V | No |
ClinGen Ensembl |
|
|
rs757847873 CA6406290 |
53 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406289 rs201823143 |
53 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6406288 rs778872550 |
56 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383559974 rs778872550 |
56 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3812774 rs1270014896 CA383559972 |
56 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1225751398 CA383559934 |
60 | E>K | No |
ClinGen gnomAD |
|
|
CA383559906 rs1333173752 |
62 | F>S | No |
ClinGen gnomAD |
|
|
rs1303035277 CA383559887 |
64 | N>H | No |
ClinGen gnomAD |
|
|
CA6406286 rs753866692 |
65 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372407730 CA383559863 |
66 | T>S | No |
ClinGen Ensembl |
|
|
CA383559856 rs1592088706 |
67 | T>P | No |
ClinGen Ensembl |
|
|
CA6406282 rs752951128 |
70 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs370299321 CA232368693 |
70 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6406279 rs540601108 |
71 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232368685 rs976502902 |
72 | I>T | No |
ClinGen TOPMed |
|
|
CA383559806 rs1333537295 |
72 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6406278 rs763345732 |
73 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770042605 CA6406276 |
75 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs762180968 CA6406275 |
77 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA383559716 rs1256945931 |
81 | R>H | No |
ClinGen gnomAD |
|
|
rs775058248 CA383559708 |
82 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA6406274 rs775058248 |
82 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA383559679 rs1280930633 |
84 | T>M | No |
ClinGen gnomAD |
|
|
rs1335775694 CA383559677 |
85 | A>T | No |
ClinGen gnomAD |
|
|
CA383559652 COSM224418 rs1328106628 |
87 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs778268845 CA6406271 |
88 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6406270 rs770518117 |
91 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749174523 CA6406269 |
94 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277917682 CA383559561 |
96 | G>V | No |
ClinGen TOPMed |
|
|
CA6406266 rs752542101 CA6406267 |
97 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406265 rs755271752 |
100 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs755271752 CA6406264 |
100 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6406263 rs751856853 |
101 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1184952259 CA383559495 |
101 | Q>R | No |
ClinGen TOPMed |
|
|
rs766337568 CA383559475 |
102 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383559469 rs1278545218 |
103 | G>S | No |
ClinGen gnomAD |
|
|
rs777004900 CA6406257 |
108 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs769061042 CA383559388 |
110 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs769061042 CA6406256 |
110 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA383559359 rs1592088461 |
112 | Y>S | No |
ClinGen Ensembl |
|
|
CA6406255 rs774123732 |
113 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774123732 CA6406254 |
113 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432385551 CA383559327 |
115 | S>N | No |
ClinGen TOPMed |
|
|
CA6406252 rs777501442 |
116 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747901081 CA6406250 |
119 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs575699161 CA6406249 |
120 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751718311 CA6406247 |
121 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA383559260 rs1309746516 |
122 | S>L | No |
ClinGen TOPMed |
|
|
rs758345341 CA6406245 |
123 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA232368537 rs1024199659 |
126 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1460264228 CA383559199 |
127 | F>L | No |
ClinGen gnomAD |
|
|
CA6406241 rs141756749 |
129 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6406238 rs764441874 |
130 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1447192848 CA383559164 |
131 | T>N | No |
ClinGen gnomAD |
|
|
rs766056130 CA383559119 |
135 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766056130 CA6406235 |
135 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383559083 rs1565488147 |
138 | Y>H | No |
ClinGen Ensembl |
|
|
rs370256768 CA232368476 |
139 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6406214 rs564898684 |
140 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1417727135 CA383558254 |
141 | P>R | No |
ClinGen gnomAD |
|
|
rs985909159 CA232359859 |
143 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA383558240 rs1184476716 |
143 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768671376 CA6406212 |
146 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs746734280 CA6406211 |
151 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1193384138 CA383558188 |
151 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs953191440 CA232359836 |
152 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1306774013 CA383558180 |
152 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6406209 rs775335440 |
153 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771805486 CA6406208 |
156 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs865917379 CA232359825 |
157 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs865917379 CA232359826 |
157 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383558144 rs1375549352 |
158 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA383558139 rs1299245580 |
159 | F>L | No |
ClinGen gnomAD |
|
|
CA6406205 rs757265424 |
160 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779168356 CA6406206 |
160 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749370935 CA6406204 |
161 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201532601 CA6406203 |
162 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6406201 rs753190765 |
163 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406202 rs756664267 |
163 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs781587925 CA6406200 |
164 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383558097 rs1444792166 |
165 | S>N | No |
ClinGen TOPMed |
|
|
rs1252047866 CA383558089 |
166 | S>F | No |
ClinGen gnomAD |
|
|
CA6406199 rs755365105 |
167 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA232359738 rs973475246 |
170 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1281528341 CA383558049 |
173 | G>D | No |
ClinGen Ensembl |
|
|
CA383558041 COSM1299767 rs1262766728 |
174 | S>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750086795 CA6406198 |
175 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA383558032 rs1307775608 |
176 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383558022 rs1344583893 |
177 | R>L | No |
ClinGen TOPMed |
|
|
rs1391370301 CA383558018 |
178 | R>H | No |
ClinGen gnomAD |
|
|
CA383558015 rs1301066039 |
179 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1453857110 CA383558001 |
181 | R>Q | No |
ClinGen gnomAD |
|
|
rs775360187 CA383557998 CA6406194 |
182 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557993 rs1315609296 |
183 | T>P | No |
ClinGen TOPMed |
|
|
CA383557977 rs1365085910 |
185 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383557973 rs1592076021 |
186 | H>P | No |
ClinGen Ensembl |
|
|
CA383557970 rs1417959525 |
186 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA383557964 rs1461189622 |
187 | P>L | No |
ClinGen TOPMed |
|
|
CA6406190 rs774485921 |
187 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383557968 rs774485921 |
187 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs771170845 CA6406189 |
188 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA383557955 rs1182591861 |
189 | Q>* | No |
ClinGen TOPMed |
|
|
CA6406188 rs199573198 |
189 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201246087 CA6406187 |
190 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202071008 CA383557947 |
190 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769803163 CA6406185 |
192 | R>K | No |
ClinGen ExAC |
|
|
CA6406183 rs574592585 |
192 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6406186 rs769803163 |
192 | R>T | No |
ClinGen ExAC |
|
|
rs893607742 CA232359652 |
192 | R>W | No |
ClinGen Ensembl |
|
|
rs1315147260 CA383557926 |
194 | P>L | No |
ClinGen gnomAD |
|
|
CA6406180 rs752004499 |
196 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778660547 CA6406179 |
197 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753587879 CA6406177 |
199 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753587879 CA383557900 |
199 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289037083 CA383557894 |
200 | A>T | No |
ClinGen gnomAD |
|
|
CA6406175 rs752626882 |
201 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6406174 rs752626882 |
201 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752626882 CA6406173 |
201 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557887 rs1165464622 |
202 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1445152613 CA383557884 |
202 | R>P | No |
ClinGen gnomAD |
|
|
rs1445152613 CA383557885 |
202 | R>Q | No |
ClinGen gnomAD |
|
|
CA6406172 rs767356889 |
203 | A>V | No |
ClinGen ExAC |
|
|
CA6406171 rs759283975 |
204 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557876 rs759283975 |
204 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383557873 rs1181489147 |
204 | R>H | No |
ClinGen gnomAD |
|
|
rs1400326355 CA383557870 |
205 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs147866964 CA6406170 RCV000930615 |
205 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383557867 rs1204709630 |
205 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 207 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763129361 CA6406168 |
207 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763129361 CA383557858 |
207 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294027336 CA383557855 |
207 | A>V | No |
ClinGen gnomAD |
|
|
rs748189603 CA6406165 |
209 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs769902968 CA6406166 |
209 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6406164 rs781695328 |
210 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327332629 CA383557832 |
211 | R>L | No |
ClinGen gnomAD |
|
|
rs1295850311 CA383557809 |
214 | N>K | No |
ClinGen gnomAD |
|
|
rs747570345 CA6406163 |
215 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6406162 rs747570345 |
215 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs868571366 CA232359556 |
216 | Q>* | No |
ClinGen Ensembl |
|
|
rs1565482674 CA383557801 |
216 | Q>R | No |
ClinGen Ensembl |
|
|
rs1425261812 CA383557794 |
217 | V>A | No |
ClinGen gnomAD |
|
|
rs200510319 CA6406160 |
217 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200510319 CA232359549 |
217 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767902038 CA6406158 |
218 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557789 rs1463338372 |
218 | D>G | No |
ClinGen gnomAD |
|
|
rs748960792 CA383557792 |
218 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748960792 CA6406159 |
218 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557783 rs1192821401 |
219 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs755588373 CA6406157 |
220 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6406156 rs748173628 |
221 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA383557758 rs1468208667 |
222 | W>* | No |
ClinGen TOPMed |
|
|
CA383557757 rs1200270245 |
222 | W>* | No |
ClinGen gnomAD |
|
|
CA6406155 rs767436357 |
223 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA383557744 rs1198002959 |
224 | I>N | No |
ClinGen gnomAD |
|
|
CA383557743 rs1198002959 |
224 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6406152 CA383557724 rs751536696 |
226 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474151114 CA383557731 |
226 | F>S | No |
ClinGen gnomAD |
|
|
CA383557704 rs1405047563 |
228 | L>Q | No |
ClinGen gnomAD |
|
|
CA383557513 rs1376660989 |
229 | C>Y | No |
ClinGen TOPMed |
|
|
rs1244122158 CA383557488 |
232 | N>K | No |
ClinGen gnomAD |
|
|
CA6406127 rs765128439 |
232 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761907917 CA6406126 |
234 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1350694942 CA383557469 |
235 | D>G | No |
ClinGen gnomAD |
|
|
CA383557472 rs1224992597 COSM1639204 |
235 | D>H | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs764253958 CA6406124 |
236 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA232358508 rs925282686 |
237 | F>V | No |
ClinGen Ensembl |
|
|
CA6406123 rs760847083 |
238 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557449 rs1592074063 |
238 | Y>S | No |
ClinGen Ensembl |
|
|
CA383557435 rs1429002172 |
240 | T>A | No |
ClinGen TOPMed |
|
|
rs1306147739 CA383557422 |
242 | S>A | No |
ClinGen TOPMed |
|
|
CA232358504 rs1044323709 |
242 | S>L | No |
ClinGen TOPMed |
|
|
rs772732812 RCV000994829 CA6406121 |
243 | S>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs776069930 CA6406122 |
243 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1405389316 CA383557412 |
244 | G>R | No |
ClinGen TOPMed |
|
|
CA6406120 rs746199428 |
247 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557377 rs1157445534 |
249 | R>S | No |
ClinGen gnomAD |
|
|
rs747753624 CA6406117 |
250 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs180729483 CA6406115 |
252 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs180729483 CA383557357 |
252 | Y>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6406114 rs771168777 |
253 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs72645111 CA6406113 |
253 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232358443 rs551706206 |
255 | H>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs746527103 CA6406112 COSM329016 |
256 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 256 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779918209 CA6406111 |
257 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA232358421 rs912450085 |
259 | I>F | No |
ClinGen Ensembl |
|
|
rs1284669753 CA383557309 |
259 | I>S | No |
ClinGen gnomAD |
|
|
CA232358400 rs951154187 |
261 | S>L | No |
ClinGen gnomAD |
|
|
CA6406107 rs757131301 |
263 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6406105 rs781146561 |
266 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs72645109 CA232358342 |
269 | S>F | No |
ClinGen Ensembl |
|
|
CA6406104 rs147702347 |
269 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375898173 CA6406103 |
271 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367305100 CA383557207 |
274 | T>A | No |
ClinGen TOPMed |
|
|
CA232358324 rs150033111 |
274 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1422089362 CA383557191 |
275 | L>P | No |
ClinGen gnomAD |
|
|
rs1422089362 CA383557189 |
275 | L>R | No |
ClinGen gnomAD |
|
|
CA383557188 rs759933475 |
276 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406099 rs774991447 |
280 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs771188060 CA6406098 |
280 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6406094 rs201553658 |
281 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406096 rs201553658 |
281 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406095 rs201553658 |
281 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406093 rs779507200 |
281 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406092 rs771678842 |
282 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs745777993 CA6406091 |
283 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368942111 CA6406090 |
283 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs892603183 CA232358223 |
286 | Q>* | No |
ClinGen Ensembl |
|
|
rs749335164 CA6406089 |
287 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383557063 rs1592073844 |
288 | S>F | No |
ClinGen Ensembl |
|
|
rs1487077405 CA383557052 |
289 | C>F | No |
ClinGen TOPMed |
|
|
CA383557059 rs1565481840 |
289 | C>R | No |
ClinGen Ensembl |
|
|
CA383557047 rs1276486117 |
290 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1248316244 CA383557039 |
290 | N>I | No |
ClinGen TOPMed |
|
|
rs778088118 CA6406087 |
292 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778088118 CA6406086 |
292 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592068273 CA383556249 |
294 | Y>S | No |
ClinGen Ensembl |
|
|
rs1430906919 CA383556228 |
296 | H>R | No |
ClinGen gnomAD |
|
|
CA6406063 rs751693113 |
299 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6406061 rs755217190 |
300 | P>L | Variant assessed as Somatic; 0.0003695 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383556183 rs755217190 |
300 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457207210 COSM1163020 CA383556186 |
300 | P>S | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs750994375 CA383556171 CA6406060 |
301 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765571538 CA383556158 |
302 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255587668 CA383556163 |
302 | Y>C | No |
ClinGen gnomAD |
|
|
rs762177076 CA6406058 |
304 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 304 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6406057 rs774936628 |
306 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs764914260 CA232352059 |
306 | Y>N | No |
ClinGen gnomAD |
|
|
CA383556090 rs1448761997 |
309 | N>S | No |
ClinGen TOPMed |
|
|
CA232352034 TCGA novel rs946745034 |
310 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA6406055 rs758918630 |
312 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1257907150 CA383556057 |
312 | N>Y | No |
ClinGen TOPMed |
|
|
rs1565479415 CA383556049 |
313 | N>H | No |
ClinGen Ensembl |
|
|
CA232352032 rs918291093 |
313 | N>K | No |
ClinGen TOPMed |
|
|
CA6406054 rs773885589 |
313 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261844990 CA383556015 COSM1737450 |
316 | L>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6406053 rs770392706 |
318 | M>L | No |
ClinGen ExAC |
|
|
rs749237003 CA6406052 |
318 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466735791 CA383555978 |
319 | S>F | No |
ClinGen gnomAD |
|
|
rs1459329549 CA383555965 |
321 | M>V | No |
ClinGen TOPMed |
|
|
rs1438980604 CA383555917 |
325 | N>S | No |
ClinGen gnomAD |
|
|
rs773342959 CA6406051 |
326 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA383555901 rs974854786 |
327 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779341775 CA6406024 |
329 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6406023 rs757735280 |
331 | M>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3772706 rs778199680 CA6406021 |
333 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000723268 rs1565479131 CA891862938 |
334 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232351556 rs1018297068 |
335 | E>G | No |
ClinGen Ensembl |
|
|
CA383555772 rs1450959018 |
336 | Q>R | No |
ClinGen TOPMed |
|
|
rs375310967 CA6406018 |
337 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749978185 CA6406017 |
337 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223845426 CA383555754 |
338 | D>N | No |
ClinGen TOPMed |
|
|
CA6406016 rs764889782 |
339 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA232351521 rs985419660 |
341 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383555718 rs985419660 |
341 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383555695 rs1217625686 |
344 | S>F | No |
ClinGen gnomAD |
|
|
rs768438286 CA6406013 |
346 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6406008 rs534158738 |
350 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6406007 rs534158738 |
350 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181065138 CA6406009 |
350 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6406006 rs139861603 |
351 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778158546 CA6406005 |
352 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs753035419 CA6406003 |
354 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764826366 CA6405999 |
355 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6406001 rs189376498 CA6406000 |
355 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6405998 rs761243273 |
356 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753740830 CA6405997 |
356 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA383555561 rs149430403 |
358 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767336946 CA6405993 |
359 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405994 rs767336946 |
359 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375159701 CA6405992 |
360 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375159701 CA6405991 |
360 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770990050 CA6405990 |
360 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406025836 CA383555503 |
364 | D>H | No |
ClinGen TOPMed |
|
|
rs1468532720 CA383555467 |
367 | F>S | No |
ClinGen TOPMed |
|
|
CA232351351 rs369734906 |
369 | L>F | No |
ClinGen TOPMed |
|
|
CA6405989 rs749335890 |
369 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs372873824 CA6405987 |
370 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529383103 CA6405988 |
370 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs929395353 CA232351338 |
371 | P>A | No |
ClinGen TOPMed |
|
|
CA383555413 rs1592067404 |
373 | V>G | No |
ClinGen Ensembl |
|
|
rs368471914 CA6405985 |
373 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6405984 rs755461944 |
375 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383555401 rs755461944 |
375 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1420817723 CA383555386 |
378 | S>G | No |
ClinGen gnomAD |
|
|
CA232351326 rs949695816 |
378 | S>R | No |
ClinGen Ensembl |
|
|
rs778711245 CA6405983 |
380 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs866610244 CA232350985 |
382 | E>K | No |
ClinGen Ensembl |
|
|
CA6405969 rs777289941 |
383 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6405967 rs201214012 |
385 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373986349 CA6405966 |
387 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200557019 CA6405964 COSM1704953 |
390 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1354542564 CA383555294 |
390 | D>V | No |
ClinGen gnomAD |
|
|
rs1339931569 CA383555283 |
392 | G>S | No |
ClinGen gnomAD |
|
|
rs886049758 CA383555276 |
393 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201365745 CA6405961 |
395 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767449498 CA6405960 |
395 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751381592 CA6405958 |
397 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766246552 CA383555231 CA6405957 |
399 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs763054871 CA6405956 |
400 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324939664 CA383555229 |
400 | D>H | No |
ClinGen TOPMed |
|
|
CA6405955 rs13306616 VAR_052035 |
402 | P>H | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs866470382 CA232350918 |
402 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA383555204 rs1481824011 |
404 | E>G | No |
ClinGen TOPMed |
|
|
rs149484264 CA6405953 |
406 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383555186 rs1482429093 |
407 | Y>H | No |
ClinGen TOPMed |
|
|
rs1220583350 CA383555175 |
408 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383555177 rs1220583350 |
408 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6405951 rs769308083 |
408 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405950 rs761309529 |
410 | K>E | No |
ClinGen ExAC |
|
|
CA383555166 rs1449591910 |
410 | K>T | No |
ClinGen gnomAD |
|
|
CA383555157 rs1259806319 |
411 | Y>C | No |
ClinGen gnomAD |
|
|
rs975159676 CA232350904 |
412 | T>I | No |
ClinGen TOPMed |
|
|
CA383555147 rs983949899 |
413 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs983949899 CA232350902 |
413 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs138011635 CA6405949 |
414 | Q>* | No |
ClinGen ESP ExAC |
|
|
rs1183809478 CA383555118 |
415 | V>G | No |
ClinGen gnomAD |
|
|
CA383555122 TCGA novel rs1236590330 |
415 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1236590330 CA383555123 |
415 | V>M | No |
ClinGen gnomAD |
|
|
rs1483651678 CA383555112 |
416 | C>Y | No |
ClinGen gnomAD |
|
|
CA383555052 rs1237221006 |
424 | S>N | No |
ClinGen gnomAD |
|
|
CA6405925 rs768222573 |
425 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA383555014 rs1221513280 |
428 | E>A | No |
ClinGen Ensembl |
|
|
rs200026546 CA6405923 |
430 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6405922 rs780056168 |
431 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA232350758 rs894335050 |
432 | A>T | No |
ClinGen TOPMed |
|
|
CA6405921 rs758087809 |
433 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778899717 CA6405919 |
434 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232350735 rs778899717 |
434 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383122426 CA383554935 |
435 | F>L | No |
ClinGen TOPMed |
|
|
rs372997123 CA383554930 |
436 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6405917 rs372997123 |
436 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs571384931 CA232350723 |
437 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6405914 rs551306856 |
438 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6405915 rs764254051 |
438 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418937220 CA383554898 |
440 | Q>R | No |
ClinGen gnomAD |
|
|
rs1361834078 CA383554892 |
441 | N>H | No |
ClinGen gnomAD |
|
|
CA383554883 rs753082199 |
441 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768103022 COSM468764 CA6405912 |
442 | V>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 445 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232350686 rs969902050 |
448 | R>G | No |
ClinGen gnomAD |
|
|
CA6405908 rs766770838 |
449 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6405909 rs774758564 |
449 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405907 rs761450468 |
451 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 452 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6405886 rs72657557 |
454 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771547810 CA6405885 |
456 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs933926812 CA232345506 |
456 | C>Y | No |
ClinGen TOPMed |
|
|
rs1565475557 CA383554416 |
457 | Y>* | No |
ClinGen Ensembl |
|
|
rs745800866 CA6405884 |
458 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1475031120 CA383554414 |
458 | Y>H | No |
ClinGen TOPMed |
|
|
CA383554399 rs1166708011 |
460 | L>V | No |
ClinGen TOPMed |
|
|
CA383554375 rs1257623145 |
463 | D>V | No |
ClinGen gnomAD |
|
|
CA6405883 rs774440622 |
464 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA383554355 rs1278029666 |
466 | S>L | No |
ClinGen gnomAD |
|
|
CA383554348 rs1354145095 |
467 | D>E | No |
ClinGen gnomAD |
|
|
rs749129164 CA6405880 |
468 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA383554344 rs1308882924 |
468 | H>N | No |
ClinGen gnomAD |
|
|
rs1342379354 CA383554333 |
470 | G>S | No |
ClinGen gnomAD |
|
|
CA6405878 rs756340988 |
472 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6405877 rs748362963 |
474 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA383554297 rs1424991775 |
475 | C>Y | No |
ClinGen TOPMed |
|
|
rs113622727 CA6405876 |
476 | R>W | Bronchiectasis with or without elevated sweat chloride 2 (besc2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs977165748 CA232345415 |
477 | K>R | No |
ClinGen TOPMed |
|
|
rs1380062084 CA383554280 |
478 | P>S | No |
ClinGen gnomAD |
|
|
COSM1704952 rs201693951 CA6405849 |
481 | V>M | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773081415 CA6405844 |
485 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1206232728 CA383554219 |
485 | Q>R | No |
ClinGen TOPMed |
|
|
CA383554213 rs1172216191 |
486 | L>F | No |
ClinGen gnomAD |
|
|
rs761519316 CA6405842 |
488 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6405841 rs768842453 |
489 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405840 rs768842453 |
489 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478918750 CA383554190 |
490 | Y>C | No |
ClinGen gnomAD |
|
|
rs775543049 CA6405838 |
492 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775543049 CA383554180 |
492 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405836 rs372568407 |
492 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372568407 CA383554179 |
492 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6405837 rs372568407 |
492 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 493 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757598099 CA6405835 |
494 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6405831 rs200923755 |
496 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405830 rs765978258 |
498 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344624335 CA383553836 |
501 | W>* | No |
ClinGen Ensembl |
|
|
CA6405805 rs775589042 |
502 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405806 rs760463562 |
502 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405802 rs137852634 |
508 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763359949 CA6405801 |
508 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948542634 CA232344782 |
509 | Q>* | No |
ClinGen Ensembl |
|
|
CA383553723 rs1287151348 |
509 | Q>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383553700 rs1369247069 |
511 | N>S | No |
ClinGen TOPMed |
|
|
rs915703605 CA232344768 |
513 | T>A | No |
ClinGen TOPMed |
|
|
CA383553672 rs1238730526 |
513 | T>I | No |
ClinGen gnomAD |
|
|
CA383553676 rs915703605 |
513 | T>P | No |
ClinGen TOPMed |
|
|
rs770217992 COSM942464 CA6405799 |
514 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA383553643 rs1365768681 |
515 | N>K | No |
ClinGen TOPMed |
|
|
CA6405775 rs72657550 |
520 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777311526 CA6405772 |
523 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6405771 rs756012753 |
523 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383553451 rs752700795 |
527 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752700795 CA6405770 |
527 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780837673 CA6405768 |
530 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1441300748 CA383553368 |
533 | Y>C | No |
ClinGen gnomAD |
|
|
rs754815751 CA6405767 |
534 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA383553336 rs1324130019 |
535 | T>S | No |
ClinGen gnomAD |
|
|
CA232344393 rs909327757 |
535 | T>S | No |
ClinGen TOPMed |
|
|
rs11542843 CA232344367 |
537 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1056949248 CA232344349 |
541 | S>F | No |
ClinGen TOPMed |
|
|
rs1167888500 CA383553288 |
541 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 542 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242915961 CA383553284 |
542 | V>L | No |
ClinGen TOPMed |
|
|
CA6405765 rs72657549 |
543 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757414357 CA6405742 |
545 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA383553253 rs1351685955 |
545 | V>F | No |
ClinGen gnomAD |
|
|
rs1592058304 CA383553248 |
546 | T>P | No |
ClinGen Ensembl |
|
|
rs967194739 CA232343771 |
550 | N>S | No |
ClinGen gnomAD |
|
|
CA383553221 rs967194739 |
550 | N>T | No |
ClinGen gnomAD |
|
|
CA383553214 rs1592058291 |
551 | L>R | No |
ClinGen Ensembl |
|
|
CA383553208 rs1592058285 |
552 | G>A | No |
ClinGen Ensembl |
|
|
CA6405739 rs761134966 |
553 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1374136191 CA383553188 |
555 | W>* | No |
ClinGen gnomAD |
|
|
rs1300459237 CA383553184 |
555 | W>C | No |
ClinGen gnomAD |
|
|
rs775891291 CA6405738 |
556 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011744389 CA232343748 |
557 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 557 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767835625 CA6405737 |
558 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6405735 rs772866436 |
560 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1419350836 CA383553148 |
561 | S>F | No |
ClinGen gnomAD |
|
|
rs1592058242 CA383553135 |
563 | V>G | No |
ClinGen Ensembl |
|
|
CA232343738 rs766598472 |
564 | L>S | No |
ClinGen Ensembl |
|
|
rs200443896 CA6405733 |
565 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768620050 CA6405732 |
566 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779896951 CA6405730 |
569 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA232343703 rs72657541 |
569 | M>T | No |
ClinGen Ensembl |
|
|
CA6405729 rs758279404 |
570 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs764120076 CA6405725 |
573 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764120076 CA6405724 |
573 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs59142484 CA6405727 |
573 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1592058196 CA383553063 |
575 | D>A | No |
ClinGen Ensembl |
|
|
CA6405723 rs756639079 |
577 | L>M | No |
ClinGen ExAC TOPMed |
|
|
rs367983061 CA6405721 |
578 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753200672 CA6405722 |
578 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405720 rs759899427 |
579 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs764895703 CA232343622 |
580 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405718 rs764895703 |
580 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750038511 CA6405719 |
580 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383553034 rs1396155824 |
581 | F>L | No |
ClinGen gnomAD |
|
|
rs1165023866 CA383553029 |
581 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1592058149 CA383553016 |
583 | M>R | No |
ClinGen Ensembl |
|
|
CA383553020 rs1565474491 |
583 | M>V | No |
ClinGen Ensembl |
|
|
rs1415667145 CA383553010 |
584 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1415667145 CA383553008 |
584 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6405717 rs761506062 |
586 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6405716 rs545954539 |
586 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201759987 CA6405715 |
587 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760600959 CA6405714 |
588 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs140175017 CA6405710 |
591 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1215635975 CA383552966 |
592 | Y>C | No |
ClinGen gnomAD |
|
|
CA383552956 rs1339259561 |
593 | W>* | No |
ClinGen gnomAD |
|
|
CA383552961 rs1367615472 |
593 | W>R | No |
ClinGen TOPMed |
|
|
rs1268808641 CA383552942 |
595 | P>L | No |
ClinGen gnomAD |
|
|
rs778899652 CA6405709 |
596 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs771246219 CA6405708 |
597 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202038572 CA6405707 |
597 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202038572 CA232343541 |
597 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6405706 rs202038572 |
597 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756163525 CA6405705 |
598 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232343523 rs991921402 |
598 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 598 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs72657540 CA6405704 |
599 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1410498668 CA383552926 |
600 | R>G | No |
ClinGen gnomAD |
|
|
rs1418645502 CA383552923 |
600 | R>T | No |
ClinGen gnomAD |
|
|
CA383552910 rs751903373 |
602 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766773131 CA6405700 |
603 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383552902 rs1488234387 |
604 | E>K | No |
ClinGen TOPMed |
|
|
rs1189532487 CA383552893 |
605 | V>L | No |
ClinGen TOPMed |
|
|
CA383552884 rs1450600390 |
606 | A>V | No |
ClinGen TOPMed |
|
|
CA232343483 rs967248503 |
607 | S>F | No |
ClinGen Ensembl |
|
|
rs1592058017 CA383552877 |
608 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 610 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205245522 COSM3812771 CA383552855 |
611 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1437771079 CA383552850 |
612 | S>C | No |
ClinGen gnomAD |
|
|
CA383552848 rs1237044151 |
613 | P>T | No |
ClinGen gnomAD |
|
|
CA232343451 rs1020555499 |
615 | S>P | No |
ClinGen Ensembl |
|
|
rs961082993 CA232343450 |
616 | H>Q | No |
ClinGen TOPMed |
|
|
CA383552815 rs1435191194 |
618 | C>R | No |
ClinGen TOPMed |
|
|
CA6405695 rs775445715 |
619 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405696 rs775445715 |
619 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592057950 CA383552801 |
620 | H>P | No |
ClinGen Ensembl |
|
|
rs1592057959 CA383552803 |
620 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 621 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6405693 rs772108915 |
622 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 622 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383552778 rs1168875267 |
623 | S>F | No |
ClinGen gnomAD |
|
|
rs866106880 CA232343425 |
628 | Q>* | No |
ClinGen Ensembl |
|
|
rs774283066 CA6405691 |
630 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA232343411 rs888042358 |
630 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 631 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749467368 CA6405689 |
632 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1172740432 CA383552718 |
634 | S>P | No |
ClinGen gnomAD |
|
|
CA383552708 rs1452831950 |
635 | P>L | No |
ClinGen gnomAD |
|
|
rs773040403 CA232343373 |
638 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 639 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383552680 rs1231728526 |
640 | P>R | No |
ClinGen gnomAD |
|
|
CA6405687 rs769880079 |
641 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1056440264 CA232343351 |
642 | P>A | No |
ClinGen TOPMed |
|
|
CA6405685 rs781302181 |
642 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA383552658 rs1310091605 |
644 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6405683 rs752130523 |
646 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 647 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780386780 CA6405682 |
647 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs758691159 CA232343318 |
648 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6405681 rs758691159 |
648 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182784000 CA383552630 |
649 | P>L | No |
ClinGen TOPMed |
|
|
CA6405680 rs753487231 |
650 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367681929 CA6405679 |
650 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367681929 CA383552627 |
650 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008455237 CA232343287 |
652 | S>C | No |
ClinGen TOPMed |
|
|
CA383552611 rs1457706072 |
653 | P>L | No |
ClinGen TOPMed |
|
|
CA383552600 rs1418624029 |
655 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761654238 CA232343271 |
655 | G>S | No |
ClinGen Ensembl |
|
|
CA383552598 rs1418624029 |
655 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6405677 rs752223228 |
656 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs767202786 CA6405676 |
657 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383552583 rs1475835428 |
658 | G>E | No |
ClinGen gnomAD |
|
|
rs1257362571 CA383552572 |
660 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383552568 rs1483429855 |
660 | S>R | No |
ClinGen gnomAD |
|
|
CA383552571 rs1257362571 |
660 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383552565 rs1186264772 |
661 | S>P | No |
ClinGen gnomAD |
|
|
rs762689971 COSM3688396 CA6405673 |
663 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA383552555 rs2228576 |
663 | T>P | Bronchiectasis with or without elevated sweat chloride 2 (besc2) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6405674 rs2228576 |
663 | T>S | Bronchiectasis with or without elevated sweat chloride 2 (besc2) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1265720391 CA383552547 |
664 | C>Y | No |
ClinGen gnomAD |
|
|
rs1234526371 CA383552540 |
665 | P>S | No |
ClinGen gnomAD |
|
|
CA383552526 rs1555110308 |
666 | L>R | No |
ClinGen Ensembl |
|
|
rs776691555 CA6405669 |
667 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383552518 rs776691555 |
667 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232343160 rs898612991 |
667 | G>R | No |
ClinGen gnomAD |
|
|
CA232343130 rs776691555 |
667 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383552520 rs898612991 |
667 | G>W | No |
ClinGen gnomAD |
|
|
CA232343114 rs1055874505 |
668 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 668 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1055874505 CA383552504 |
668 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761663786 RCV000519255 |
669 | P>missing | No |
ClinVar dbSNP |
|
|
CA232343072 rs576872942 |
669 | P>A | No |
ClinGen 1000Genomes |
|
|
CA6405664 rs780566959 |
669 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383552496 rs576872942 |
669 | P>S | No |
ClinGen 1000Genomes |
|
| rs758737621 | 670 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
3 associated diseases with P37088
[MIM: 264350]: Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)
A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269|PubMed:10586178, ECO:0000269|PubMed:15853823, ECO:0000269|PubMed:18634878}. Note=The disease is caused by variants affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878). {ECO:0000269|PubMed:18634878}.
[MIM: 613021]: Bronchiectasis with or without elevated sweat chloride 2 (BESC2)
A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO:0000269|PubMed:19462466}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618126]: Liddle syndrome 3 (LIDLS3)
A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269|PubMed:28710092}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269|PubMed:10586178, ECO:0000269|PubMed:15853823, ECO:0000269|PubMed:18634878}. Note=The disease is caused by variants affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878). {ECO:0000269|PubMed:18634878}.
- A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO:0000269|PubMed:19462466}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269|PubMed:28710092}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P37088
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Epithelial sodium channel, conserved site | 411 - 431 | IPR020903 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sodium channel complex | An ion channel complex through which sodium ions pass. |
| sperm principal piece | The segment of the sperm flagellum where the mitochondrial sheath ends, and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs. The principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ligand-gated sodium channel activity | Enables the transmembrane transfer of a sodium ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
| WW domain binding | Binding to a WW domain of a protein, a small module composed of 40 amino acids and plays a role in mediating protein-protein interactions via proline-rich regions. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to acidic pH | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus with pH < 7. pH is a measure of the acidity or basicity of an aqueous solution. |
| cellular response to aldosterone | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus. |
| cellular response to amiloride | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amiloride stimulus. |
| cellular response to vasopressin | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vasopressin stimulus. |
| cellular sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions at the level of a cell. |
| multicellular organismal water homeostasis | Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| sensory perception of salty taste | The series of events required to receive a salty taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| sensory perception of sour taste | The series of events required to receive a sour taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell. |
| sodium ion import across plasma membrane | The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1MJW3 | SCNN1G | Amiloride-sensitive sodium channel subunit gamma | Bos taurus (Bovine) | PR |
| H2QAR5 | SCNN1G | Amiloride-sensitive sodium channel subunit gamma | Pan troglodytes (Chimpanzee) | PR |
| P51170 | SCNN1G | Amiloride-sensitive sodium channel subunit gamma | Homo sapiens (Human) | PR |
| Q61180 | Scnn1a | Amiloride-sensitive sodium channel subunit alpha | Mus musculus (Mouse) | PR |
| P37089 | Scnn1a | Amiloride-sensitive sodium channel subunit alpha | Rattus norvegicus (Rat) | PR |
| Q10025 | del-10 | Degenerin-like protein del-10 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGNKLEEQD | SSPPQSTPGL | MKGNKREEQG | LGPEPAAPQQ | PTAEEEALIE | FHRSYRELFE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FFCNNTTIHG | AIRLVCSQHN | RMKTAFWAVL | WLCTFGMMYW | QFGLLFGEYF | SYPVSLNINL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NSDKLVFPAV | TICTLNPYRY | PEIKEELEEL | DRITEQTLFD | LYKYSSFTTL | VAGSRSRRDL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RGTLPHPLQR | LRVPPPPHGA | RRARSVASSL | RDNNPQVDWK | DWKIGFQLCN | QNKSDCFYQT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YSSGVDAVRE | WYRFHYINIL | SRLPETLPSL | EEDTLGNFIF | ACRFNQVSCN | QANYSHFHHP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MYGNCYTFND | KNNSNLWMSS | MPGINNGLSL | MLRAEQNDFI | PLLSTVTGAR | VMVHGQDEPA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FMDDGGFNLR | PGVETSISMR | KETLDRLGGD | YGDCTKNGSD | VPVENLYPSK | YTQQVCIHSC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FQESMIKECG | CAYIFYPRPQ | NVEYCDYRKH | SSWGYCYYKL | QVDFSSDHLG | CFTKCRKPCS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VTSYQLSAGY | SRWPSVTSQE | WVFQMLSRQN | NYTVNNKRNG | VAKVNIFFKE | LNYKTNSESP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SVTMVTLLSN | LGSQWSLWFG | SSVLSVVEMA | ELVFDLLVIM | FLMLLRRFRS | RYWSPGRGGR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GAQEVASTLA | SSPPSHFCPH | PMSLSLSQPG | PAPSPALTAP | PPAYATLGPR | PSPGGSAGAS |
| SSTCPLGGP |