← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-2086782-CGC-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2086782&ref=CGC&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TSC2",
"hgnc_id": 12363,
"hgvs_c": "c.4900_4902delCGCinsTTA",
"hgvs_p": "p.Arg1634Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000548.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "R",
"aa_start": 1634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 5010,
"cds_end": null,
"cds_length": 5424,
"cds_start": 4900,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000548.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4900_4902delCGCinsTTA",
"hgvs_p": "p.Arg1634Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219476.9",
"protein_coding": true,
"protein_id": "NP_000539.2",
"strand": true,
"transcript": "NM_000548.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "R",
"aa_start": 1634,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 5010,
"cds_end": null,
"cds_length": 5424,
"cds_start": 4900,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000219476.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4900_4902delCGCinsTTA",
"hgvs_p": "p.Arg1634Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000548.5",
"protein_coding": true,
"protein_id": "ENSP00000219476.3",
"strand": true,
"transcript": "ENST00000219476.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "R",
"aa_start": 1611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 4906,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4831,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350773.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4831_4833delCGCinsTTA",
"hgvs_p": "p.Arg1611Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344383.4",
"strand": true,
"transcript": "ENST00000350773.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "R",
"aa_start": 1567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 4805,
"cds_end": null,
"cds_length": 5223,
"cds_start": 4699,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000401874.7",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4699_4701delCGCinsTTA",
"hgvs_p": "p.Arg1567Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384468.2",
"strand": true,
"transcript": "ENST00000401874.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*4067_*4069delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406980.2",
"strand": true,
"transcript": "ENST00000439117.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*4067_*4069delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406980.2",
"strand": true,
"transcript": "ENST00000439117.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "R",
"aa_start": 1664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 5100,
"cds_end": null,
"cds_length": 5514,
"cds_start": 4990,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645186.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4990_4992delCGCinsTTA",
"hgvs_p": "p.Arg1664Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495110.2",
"strand": true,
"transcript": "ENST00000645186.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "R",
"aa_start": 1633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 5007,
"cds_end": null,
"cds_length": 5421,
"cds_start": 4897,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406663.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4897_4899delCGCinsTTA",
"hgvs_p": "p.Arg1633Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393592.1",
"strand": true,
"transcript": "NM_001406663.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "R",
"aa_start": 1633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 4968,
"cds_end": null,
"cds_length": 5421,
"cds_start": 4897,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642365.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4897_4899delCGCinsTTA",
"hgvs_p": "p.Arg1633Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495459.2",
"strand": true,
"transcript": "ENST00000642365.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "R",
"aa_start": 1632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 4980,
"cds_end": null,
"cds_length": 5418,
"cds_start": 4894,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646388.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4894_4896delCGCinsTTA",
"hgvs_p": "p.Arg1632Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495921.1",
"strand": true,
"transcript": "ENST00000646388.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "R",
"aa_start": 1626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 4989,
"cds_end": null,
"cds_length": 5400,
"cds_start": 4876,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941763.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4876_4878delCGCinsTTA",
"hgvs_p": "p.Arg1626Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611822.1",
"strand": true,
"transcript": "ENST00000941763.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "R",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 4977,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4867,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903285.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4867_4869delCGCinsTTA",
"hgvs_p": "p.Arg1623Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573344.1",
"strand": true,
"transcript": "ENST00000903285.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "R",
"aa_start": 1611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": 4941,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4831,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001114382.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4831_4833delCGCinsTTA",
"hgvs_p": "p.Arg1611Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107854.1",
"strand": true,
"transcript": "NM_001114382.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "R",
"aa_start": 1610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 4938,
"cds_end": null,
"cds_length": 5352,
"cds_start": 4828,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406664.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4828_4830delCGCinsTTA",
"hgvs_p": "p.Arg1610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393593.1",
"strand": true,
"transcript": "NM_001406664.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 4943,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4825,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643946.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4825_4827delCGCinsTTA",
"hgvs_p": "p.Arg1609Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495927.1",
"strand": true,
"transcript": "ENST00000643946.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "R",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 4932,
"cds_end": null,
"cds_length": 5346,
"cds_start": 4822,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406665.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4822_4824delCGCinsTTA",
"hgvs_p": "p.Arg1608Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393594.1",
"strand": true,
"transcript": "NM_001406665.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "R",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 4899,
"cds_end": null,
"cds_length": 5346,
"cds_start": 4822,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941766.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4822_4824delCGCinsTTA",
"hgvs_p": "p.Arg1608Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611825.1",
"strand": true,
"transcript": "ENST00000941766.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "R",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 4821,
"cds_end": null,
"cds_length": 5343,
"cds_start": 4819,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644399.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4819_4821delCGCinsTTA",
"hgvs_p": "p.Arg1607Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493990.1",
"strand": true,
"transcript": "ENST00000644399.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "R",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 4906,
"cds_end": null,
"cds_length": 5343,
"cds_start": 4819,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903287.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4819_4821delCGCinsTTA",
"hgvs_p": "p.Arg1607Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573346.1",
"strand": true,
"transcript": "ENST00000903287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1771,
"aa_ref": "R",
"aa_start": 1598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 4902,
"cds_end": null,
"cds_length": 5316,
"cds_start": 4792,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406667.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4792_4794delCGCinsTTA",
"hgvs_p": "p.Arg1598Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393596.1",
"strand": true,
"transcript": "NM_001406667.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "R",
"aa_start": 1597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 4899,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4789,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406668.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4789_4791delCGCinsTTA",
"hgvs_p": "p.Arg1597Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393597.1",
"strand": true,
"transcript": "NM_001406668.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1769,
"aa_ref": "R",
"aa_start": 1567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5453,
"cdna_start": 4761,
"cds_end": null,
"cds_length": 5310,
"cds_start": 4699,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644329.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4699_4701delCGCinsTTA",
"hgvs_p": "p.Arg1567Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496611.1",
"strand": true,
"transcript": "ENST00000644329.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "R",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": 4881,
"cds_end": null,
"cds_length": 5295,
"cds_start": 4771,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021055.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4771_4773delCGCinsTTA",
"hgvs_p": "p.Arg1591Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066399.2",
"strand": true,
"transcript": "NM_021055.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "R",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5457,
"cdna_start": 4825,
"cds_end": null,
"cds_length": 5295,
"cds_start": 4771,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644043.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4771_4773delCGCinsTTA",
"hgvs_p": "p.Arg1591Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496262.1",
"strand": true,
"transcript": "ENST00000644043.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "R",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6926,
"cdna_start": 5521,
"cds_end": null,
"cds_length": 5295,
"cds_start": 4771,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903281.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4771_4773delCGCinsTTA",
"hgvs_p": "p.Arg1591Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573340.1",
"strand": true,
"transcript": "ENST00000903281.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "R",
"aa_start": 1590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6283,
"cdna_start": 4878,
"cds_end": null,
"cds_length": 5292,
"cds_start": 4768,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370404.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4768_4770delCGCinsTTA",
"hgvs_p": "p.Arg1590Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357333.1",
"strand": true,
"transcript": "NM_001370404.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "R",
"aa_start": 1590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5507,
"cdna_start": 4877,
"cds_end": null,
"cds_length": 5292,
"cds_start": 4768,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642936.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4768_4770delCGCinsTTA",
"hgvs_p": "p.Arg1590Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494514.1",
"strand": true,
"transcript": "ENST00000642936.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "R",
"aa_start": 1590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 4855,
"cds_end": null,
"cds_length": 5292,
"cds_start": 4768,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903289.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4768_4770delCGCinsTTA",
"hgvs_p": "p.Arg1590Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573348.1",
"strand": true,
"transcript": "ENST00000903289.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1760,
"aa_ref": "R",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6274,
"cdna_start": 4881,
"cds_end": null,
"cds_length": 5283,
"cds_start": 4771,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370405.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4771_4773delCGCinsTTA",
"hgvs_p": "p.Arg1591Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357334.1",
"strand": true,
"transcript": "NM_001370405.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1760,
"aa_ref": "R",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 4823,
"cds_end": null,
"cds_length": 5283,
"cds_start": 4771,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642561.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4771_4773delCGCinsTTA",
"hgvs_p": "p.Arg1591Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495099.1",
"strand": true,
"transcript": "ENST00000642561.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1759,
"aa_ref": "R",
"aa_start": 1586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 4843,
"cds_end": null,
"cds_length": 5280,
"cds_start": 4756,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903288.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4756_4758delCGCinsTTA",
"hgvs_p": "p.Arg1586Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573347.1",
"strand": true,
"transcript": "ENST00000903288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1756,
"aa_ref": "R",
"aa_start": 1583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5485,
"cdna_start": 4863,
"cds_end": null,
"cds_length": 5271,
"cds_start": 4747,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642206.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4747_4749delCGCinsTTA",
"hgvs_p": "p.Arg1583Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495146.2",
"strand": true,
"transcript": "ENST00000642206.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1752,
"aa_ref": "R",
"aa_start": 1579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 4852,
"cds_end": null,
"cds_length": 5259,
"cds_start": 4735,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903286.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4735_4737delCGCinsTTA",
"hgvs_p": "p.Arg1579Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573345.1",
"strand": true,
"transcript": "ENST00000903286.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1751,
"aa_ref": "R",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6205,
"cdna_start": 4800,
"cds_end": null,
"cds_length": 5256,
"cds_start": 4732,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318832.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4732_4734delCGCinsTTA",
"hgvs_p": "p.Arg1578Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305761.1",
"strand": true,
"transcript": "NM_001318832.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1751,
"aa_ref": "R",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5429,
"cdna_start": 4800,
"cds_end": null,
"cds_length": 5256,
"cds_start": 4732,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000568454.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4732_4734delCGCinsTTA",
"hgvs_p": "p.Arg1578Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454487.1",
"strand": true,
"transcript": "ENST00000568454.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "R",
"aa_start": 1574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6235,
"cdna_start": 4830,
"cds_end": null,
"cds_length": 5244,
"cds_start": 4720,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406670.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4720_4722delCGCinsTTA",
"hgvs_p": "p.Arg1574Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393599.1",
"strand": true,
"transcript": "NM_001406670.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "R",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6217,
"cdna_start": 4812,
"cds_end": null,
"cds_length": 5226,
"cds_start": 4702,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363528.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4702_4704delCGCinsTTA",
"hgvs_p": "p.Arg1568Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350457.1",
"strand": true,
"transcript": "NM_001363528.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "R",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5388,
"cdna_start": 4756,
"cds_end": null,
"cds_length": 5226,
"cds_start": 4702,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642797.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4702_4704delCGCinsTTA",
"hgvs_p": "p.Arg1568Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493846.1",
"strand": true,
"transcript": "ENST00000642797.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "R",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 4773,
"cds_end": null,
"cds_length": 5226,
"cds_start": 4702,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941767.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4702_4704delCGCinsTTA",
"hgvs_p": "p.Arg1568Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611826.1",
"strand": true,
"transcript": "ENST00000941767.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "R",
"aa_start": 1567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6214,
"cdna_start": 4809,
"cds_end": null,
"cds_length": 5223,
"cds_start": 4699,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077183.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4699_4701delCGCinsTTA",
"hgvs_p": "p.Arg1567Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070651.1",
"strand": true,
"transcript": "NM_001077183.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1739,
"aa_ref": "R",
"aa_start": 1566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5433,
"cdna_start": 4796,
"cds_end": null,
"cds_length": 5220,
"cds_start": 4696,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644335.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4696_4698delCGCinsTTA",
"hgvs_p": "p.Arg1566Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496317.1",
"strand": true,
"transcript": "ENST00000644335.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "R",
"aa_start": 1565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 4811,
"cds_end": null,
"cds_length": 5217,
"cds_start": 4693,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643088.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4693_4695delCGCinsTTA",
"hgvs_p": "p.Arg1565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494747.1",
"strand": true,
"transcript": "ENST00000643088.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1737,
"aa_ref": "R",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6205,
"cdna_start": 4800,
"cds_end": null,
"cds_length": 5214,
"cds_start": 4690,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406671.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4690_4692delCGCinsTTA",
"hgvs_p": "p.Arg1564Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393600.1",
"strand": true,
"transcript": "NM_001406671.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "R",
"aa_start": 1563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 4797,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4687,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406673.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4687_4689delCGCinsTTA",
"hgvs_p": "p.Arg1563Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393602.1",
"strand": true,
"transcript": "NM_001406673.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1735,
"aa_ref": "R",
"aa_start": 1562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": 4774,
"cds_end": null,
"cds_length": 5208,
"cds_start": 4684,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406675.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4684_4686delCGCinsTTA",
"hgvs_p": "p.Arg1562Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393604.1",
"strand": true,
"transcript": "NM_001406675.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1734,
"aa_ref": "R",
"aa_start": 1561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 4771,
"cds_end": null,
"cds_length": 5205,
"cds_start": 4681,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406676.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4681_4683delCGCinsTTA",
"hgvs_p": "p.Arg1561Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393605.1",
"strand": true,
"transcript": "NM_001406676.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1729,
"aa_ref": "R",
"aa_start": 1556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": 4785,
"cds_end": null,
"cds_length": 5190,
"cds_start": 4666,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903282.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4666_4668delCGCinsTTA",
"hgvs_p": "p.Arg1556Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573341.1",
"strand": true,
"transcript": "ENST00000903282.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1723,
"aa_ref": "R",
"aa_start": 1550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 4732,
"cds_end": null,
"cds_length": 5172,
"cds_start": 4648,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903291.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4648_4650delCGCinsTTA",
"hgvs_p": "p.Arg1550Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573350.1",
"strand": true,
"transcript": "ENST00000903291.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1722,
"aa_ref": "R",
"aa_start": 1549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5379,
"cdna_start": 4755,
"cds_end": null,
"cds_length": 5169,
"cds_start": 4645,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903284.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4645_4647delCGCinsTTA",
"hgvs_p": "p.Arg1549Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573343.1",
"strand": true,
"transcript": "ENST00000903284.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1721,
"aa_ref": "R",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6137,
"cdna_start": 4732,
"cds_end": null,
"cds_length": 5166,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406677.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4642_4644delCGCinsTTA",
"hgvs_p": "p.Arg1548Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393606.1",
"strand": true,
"transcript": "NM_001406677.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1704,
"aa_ref": "R",
"aa_start": 1531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 4701,
"cds_end": null,
"cds_length": 5115,
"cds_start": 4591,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318827.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4591_4593delCGCinsTTA",
"hgvs_p": "p.Arg1531Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305756.1",
"strand": true,
"transcript": "NM_001318827.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1704,
"aa_ref": "R",
"aa_start": 1531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5287,
"cdna_start": 4672,
"cds_end": null,
"cds_length": 5115,
"cds_start": 4591,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439673.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4591_4593delCGCinsTTA",
"hgvs_p": "p.Arg1531Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399232.2",
"strand": true,
"transcript": "ENST00000439673.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1703,
"aa_ref": "R",
"aa_start": 1530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 4698,
"cds_end": null,
"cds_length": 5112,
"cds_start": 4588,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406678.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4588_4590delCGCinsTTA",
"hgvs_p": "p.Arg1530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393607.1",
"strand": true,
"transcript": "NM_001406678.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1703,
"aa_ref": "R",
"aa_start": 1530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 4698,
"cds_end": null,
"cds_length": 5112,
"cds_start": 4588,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920525.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4588_4590delCGCinsTTA",
"hgvs_p": "p.Arg1530Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590584.1",
"strand": true,
"transcript": "ENST00000920525.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "R",
"aa_start": 1528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 4680,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4582,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941765.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4582_4584delCGCinsTTA",
"hgvs_p": "p.Arg1528Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611824.1",
"strand": true,
"transcript": "ENST00000941765.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "R",
"aa_start": 1527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5315,
"cdna_start": 4689,
"cds_end": null,
"cds_length": 5103,
"cds_start": 4579,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903283.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4579_4581delCGCinsTTA",
"hgvs_p": "p.Arg1527Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573342.1",
"strand": true,
"transcript": "ENST00000903283.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "R",
"aa_start": 1527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 4688,
"cds_end": null,
"cds_length": 5103,
"cds_start": 4579,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920526.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4579_4581delCGCinsTTA",
"hgvs_p": "p.Arg1527Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590585.1",
"strand": true,
"transcript": "ENST00000920526.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1693,
"aa_ref": "R",
"aa_start": 1520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 4643,
"cds_end": null,
"cds_length": 5082,
"cds_start": 4558,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903290.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4558_4560delCGCinsTTA",
"hgvs_p": "p.Arg1520Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573349.1",
"strand": true,
"transcript": "ENST00000903290.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "R",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 4645,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318829.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4555_4557delCGCinsTTA",
"hgvs_p": "p.Arg1519Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305758.1",
"strand": true,
"transcript": "NM_001318829.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "R",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5264,
"cdna_start": 4650,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382538.10",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4555_4557delCGCinsTTA",
"hgvs_p": "p.Arg1519Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371978.6",
"strand": true,
"transcript": "ENST00000382538.10",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "R",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": 4665,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941764.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4555_4557delCGCinsTTA",
"hgvs_p": "p.Arg1519Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611823.1",
"strand": true,
"transcript": "ENST00000941764.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1691,
"aa_ref": "R",
"aa_start": 1518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6047,
"cdna_start": 4642,
"cds_end": null,
"cds_length": 5076,
"cds_start": 4552,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406679.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4552_4554delCGCinsTTA",
"hgvs_p": "p.Arg1518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393608.1",
"strand": true,
"transcript": "NM_001406679.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "R",
"aa_start": 1434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5226,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4300,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406680.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4300_4302delCGCinsTTA",
"hgvs_p": "p.Arg1434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393609.1",
"strand": true,
"transcript": "NM_001406680.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "R",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6200,
"cdna_start": 4795,
"cds_end": null,
"cds_length": 4764,
"cds_start": 4240,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406681.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4240_4242delCGCinsTTA",
"hgvs_p": "p.Arg1414Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393610.1",
"strand": true,
"transcript": "NM_001406681.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "R",
"aa_start": 1411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 4567,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4231,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406682.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4231_4233delCGCinsTTA",
"hgvs_p": "p.Arg1411Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393611.1",
"strand": true,
"transcript": "NM_001406682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "R",
"aa_start": 1411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6562,
"cdna_start": 5157,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4231,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406683.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4231_4233delCGCinsTTA",
"hgvs_p": "p.Arg1411Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393612.1",
"strand": true,
"transcript": "NM_001406683.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1583,
"aa_ref": "R",
"aa_start": 1410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4564,
"cds_end": null,
"cds_length": 4752,
"cds_start": 4228,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406684.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4228_4230delCGCinsTTA",
"hgvs_p": "p.Arg1410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393613.1",
"strand": true,
"transcript": "NM_001406684.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "R",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5909,
"cdna_start": 4504,
"cds_end": null,
"cds_length": 4692,
"cds_start": 4168,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318831.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4168_4170delCGCinsTTA",
"hgvs_p": "p.Arg1390Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305760.1",
"strand": true,
"transcript": "NM_001318831.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "R",
"aa_start": 1368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5843,
"cdna_start": 4438,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4102,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406685.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4102_4104delCGCinsTTA",
"hgvs_p": "p.Arg1368Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393614.1",
"strand": true,
"transcript": "NM_001406685.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "R",
"aa_start": 1368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5676,
"cdna_start": 4271,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4102,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406686.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4102_4104delCGCinsTTA",
"hgvs_p": "p.Arg1368Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393615.1",
"strand": true,
"transcript": "NM_001406686.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "R",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6430,
"cdna_start": 5025,
"cds_end": null,
"cds_length": 4623,
"cds_start": 4099,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406687.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4099_4101delCGCinsTTA",
"hgvs_p": "p.Arg1367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393616.1",
"strand": true,
"transcript": "NM_001406687.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "R",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5840,
"cdna_start": 4435,
"cds_end": null,
"cds_length": 4623,
"cds_start": 4099,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406688.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4099_4101delCGCinsTTA",
"hgvs_p": "p.Arg1367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393617.1",
"strand": true,
"transcript": "NM_001406688.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 5028,
"cds_end": null,
"cds_length": 4011,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406689.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3487_3489delCGCinsTTA",
"hgvs_p": "p.Arg1163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393618.1",
"strand": true,
"transcript": "NM_001406689.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "R",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 4968,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406690.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3427_3429delCGCinsTTA",
"hgvs_p": "p.Arg1143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393619.1",
"strand": true,
"transcript": "NM_001406690.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "R",
"aa_start": 1142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 4965,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3424,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406691.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3424_3426delCGCinsTTA",
"hgvs_p": "p.Arg1142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393620.1",
"strand": true,
"transcript": "NM_001406691.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "R",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 4899,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3358,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406692.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3358_3360delCGCinsTTA",
"hgvs_p": "p.Arg1120Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393621.1",
"strand": true,
"transcript": "NM_001406692.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "R",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6610,
"cdna_start": 5205,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3358,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406693.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3358_3360delCGCinsTTA",
"hgvs_p": "p.Arg1120Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393622.1",
"strand": true,
"transcript": "NM_001406693.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "R",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6185,
"cdna_start": 4780,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3358,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406694.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3358_3360delCGCinsTTA",
"hgvs_p": "p.Arg1120Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393623.1",
"strand": true,
"transcript": "NM_001406694.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6182,
"cdna_start": 4777,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406695.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3355_3357delCGCinsTTA",
"hgvs_p": "p.Arg1119Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393624.1",
"strand": true,
"transcript": "NM_001406695.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6289,
"cdna_start": 4884,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406696.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3355_3357delCGCinsTTA",
"hgvs_p": "p.Arg1119Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393625.1",
"strand": true,
"transcript": "NM_001406696.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6301,
"cdna_start": 4896,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406697.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3355_3357delCGCinsTTA",
"hgvs_p": "p.Arg1119Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393626.1",
"strand": true,
"transcript": "NM_001406697.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "R",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6219,
"cdna_start": 4814,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3097,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406698.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3097_3099delCGCinsTTA",
"hgvs_p": "p.Arg1033Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393627.1",
"strand": true,
"transcript": "NM_001406698.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "R",
"aa_start": 1652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6469,
"cdna_start": 5064,
"cds_end": null,
"cds_length": 5478,
"cds_start": 4954,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522636.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4954_4956delCGCinsTTA",
"hgvs_p": "p.Arg1652Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520938.1",
"strand": true,
"transcript": "XM_011522636.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1824,
"aa_ref": "R",
"aa_start": 1651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6466,
"cdna_start": 5061,
"cds_end": null,
"cds_length": 5475,
"cds_start": 4951,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522637.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4951_4953delCGCinsTTA",
"hgvs_p": "p.Arg1651Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520939.1",
"strand": true,
"transcript": "XM_011522637.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1788,
"aa_ref": "R",
"aa_start": 1615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 4953,
"cds_end": null,
"cds_length": 5367,
"cds_start": 4843,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522638.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4843_4845delCGCinsTTA",
"hgvs_p": "p.Arg1615Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520940.3",
"strand": true,
"transcript": "XM_011522638.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 4935,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4825,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522639.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4825_4827delCGCinsTTA",
"hgvs_p": "p.Arg1609Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520941.1",
"strand": true,
"transcript": "XM_011522639.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000497886.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2623_2625delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497886.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000568566.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3249_*3251delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455997.2",
"strand": true,
"transcript": "ENST00000568566.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000569110.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*174_*176delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455817.2",
"strand": true,
"transcript": "ENST00000569110.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000569930.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2782_2784delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000569930.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642728.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.1082_1084delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000642728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642791.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.497_499delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000642791.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643177.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.914_916delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000643177.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643426.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2548_2550delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000643426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000644278.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.382_384delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000644278.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000644417.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*5413_*5415delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493912.2",
"strand": true,
"transcript": "ENST00000644417.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000645024.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2984_2986delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000645024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000646464.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*7649_*7651delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496610.2",
"strand": true,
"transcript": "ENST00000646464.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000646557.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.61_63delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646557.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000646634.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.3715_3717delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646634.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000646674.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2152_2154delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646674.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000647042.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2123_2125delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000647042.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000647180.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2013_2015delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000647180.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000715163.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5677_5679delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000715163.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6257,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NR_176225.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4852_4854delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176225.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NR_176226.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5100_5102delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176226.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NR_176227.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5028_5030delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176227.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NR_176228.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4849_4851delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176228.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NR_176229.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4774_4776delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176229.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000568566.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3249_*3251delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455997.2",
"strand": true,
"transcript": "ENST00000568566.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000569110.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*174_*176delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455817.2",
"strand": true,
"transcript": "ENST00000569110.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000644417.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*5413_*5415delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493912.2",
"strand": true,
"transcript": "ENST00000644417.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000646464.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*7649_*7651delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496610.2",
"strand": true,
"transcript": "ENST00000646464.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.788,
"pos": 2086782,
"ref": "CGC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000548.5"
}
]
}