← 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: 1-226986631-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226986631&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PS3",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "COQ8A",
"hgnc_id": 16812,
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"inheritance_mode": "AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_020247.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PP5_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"hgvs_c": "n.*6571dupG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 12,
"score": 12,
"transcript": "ENST00000366779.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PS3,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Autosomal recessive ataxia due to ubiquinone deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_020247.5",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366777.4",
"protein_coding": true,
"protein_id": "NP_064632.2",
"strand": true,
"transcript": "NM_020247.5",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000366777.4",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020247.5",
"protein_coding": true,
"protein_id": "ENSP00000355739.3",
"strand": true,
"transcript": "ENST00000366777.4",
"transcript_support_level": 1
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 595,
"aa_ref": "G",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1689,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000366778.5",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1688dupG",
"hgvs_p": "p.Ser564fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355740.1",
"strand": true,
"transcript": "ENST00000366778.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 9497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000366779.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288674",
"hgvs_c": "n.*6571dupG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000355741.2",
"strand": true,
"transcript": "ENST00000366779.6",
"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": 1938,
"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": "ENST00000479852.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "n.1031dupG",
"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": "ENST00000479852.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000485462.5",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "n.1234dupG",
"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": "ENST00000485462.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 9497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000366779.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288674",
"hgvs_c": "n.*6571dupG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000355741.2",
"strand": true,
"transcript": "ENST00000366779.6",
"transcript_support_level": 2
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 699,
"aa_ref": "G",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 2100,
"cds_start": 2001,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950277.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.2000dupG",
"hgvs_p": "p.Ser668fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620336.1",
"strand": true,
"transcript": "ENST00000950277.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 693,
"aa_ref": "G",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1983,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950276.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1982dupG",
"hgvs_p": "p.Ser662fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620335.1",
"strand": true,
"transcript": "ENST00000950276.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 651,
"aa_ref": "G",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1857,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950279.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1856dupG",
"hgvs_p": "p.Ser620fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620338.1",
"strand": true,
"transcript": "ENST00000950279.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873690.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543749.1",
"strand": true,
"transcript": "ENST00000873690.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873691.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543750.1",
"strand": true,
"transcript": "ENST00000873691.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873693.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543752.1",
"strand": true,
"transcript": "ENST00000873693.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873694.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543753.1",
"strand": true,
"transcript": "ENST00000873694.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 2114,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873696.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543755.1",
"strand": true,
"transcript": "ENST00000873696.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873697.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543756.1",
"strand": true,
"transcript": "ENST00000873697.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873698.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543757.1",
"strand": true,
"transcript": "ENST00000873698.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873699.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543758.1",
"strand": true,
"transcript": "ENST00000873699.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000873700.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543759.1",
"strand": true,
"transcript": "ENST00000873700.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000873701.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543760.1",
"strand": true,
"transcript": "ENST00000873701.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873702.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543761.1",
"strand": true,
"transcript": "ENST00000873702.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873703.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543762.1",
"strand": true,
"transcript": "ENST00000873703.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873704.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543763.1",
"strand": true,
"transcript": "ENST00000873704.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873705.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543764.1",
"strand": true,
"transcript": "ENST00000873705.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873706.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543765.1",
"strand": true,
"transcript": "ENST00000873706.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000873707.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543766.1",
"strand": true,
"transcript": "ENST00000873707.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000873709.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543768.1",
"strand": true,
"transcript": "ENST00000873709.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873710.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543769.1",
"strand": true,
"transcript": "ENST00000873710.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000873712.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543771.1",
"strand": true,
"transcript": "ENST00000873712.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000873713.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543772.1",
"strand": true,
"transcript": "ENST00000873713.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000873714.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543773.1",
"strand": true,
"transcript": "ENST00000873714.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873716.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543775.1",
"strand": true,
"transcript": "ENST00000873716.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 2059,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873717.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543776.1",
"strand": true,
"transcript": "ENST00000873717.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873718.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543777.1",
"strand": true,
"transcript": "ENST00000873718.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873719.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543778.1",
"strand": true,
"transcript": "ENST00000873719.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873720.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543779.1",
"strand": true,
"transcript": "ENST00000873720.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873721.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543780.1",
"strand": true,
"transcript": "ENST00000873721.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000912837.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582896.1",
"strand": true,
"transcript": "ENST00000912837.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000912838.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582897.1",
"strand": true,
"transcript": "ENST00000912838.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000912839.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582898.1",
"strand": true,
"transcript": "ENST00000912839.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950267.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620326.1",
"strand": true,
"transcript": "ENST00000950267.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950268.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620327.1",
"strand": true,
"transcript": "ENST00000950268.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950273.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620332.1",
"strand": true,
"transcript": "ENST00000950273.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950275.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620334.1",
"strand": true,
"transcript": "ENST00000950275.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950280.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620339.1",
"strand": true,
"transcript": "ENST00000950280.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3073,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950282.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620341.1",
"strand": true,
"transcript": "ENST00000950282.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 2149,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950286.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620345.1",
"strand": true,
"transcript": "ENST00000950286.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950288.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620347.1",
"strand": true,
"transcript": "ENST00000950288.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950291.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620350.1",
"strand": true,
"transcript": "ENST00000950291.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950292.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620351.1",
"strand": true,
"transcript": "ENST00000950292.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 2063,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950293.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620352.1",
"strand": true,
"transcript": "ENST00000950293.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950294.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620353.1",
"strand": true,
"transcript": "ENST00000950294.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950295.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620354.1",
"strand": true,
"transcript": "ENST00000950295.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950297.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620356.1",
"strand": true,
"transcript": "ENST00000950297.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950299.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620358.1",
"strand": true,
"transcript": "ENST00000950299.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 645,
"aa_ref": "G",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1839,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873708.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1838dupG",
"hgvs_p": "p.Ser614fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543767.1",
"strand": true,
"transcript": "ENST00000873708.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 645,
"aa_ref": "G",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1839,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950271.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1838dupG",
"hgvs_p": "p.Ser614fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620330.1",
"strand": true,
"transcript": "ENST00000950271.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 645,
"aa_ref": "G",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1839,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950272.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1838dupG",
"hgvs_p": "p.Ser614fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620331.1",
"strand": true,
"transcript": "ENST00000950272.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 635,
"aa_ref": "G",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1809,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950274.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1808dupG",
"hgvs_p": "p.Ser604fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620333.1",
"strand": true,
"transcript": "ENST00000950274.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 630,
"aa_ref": "G",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1794,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950270.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1793dupG",
"hgvs_p": "p.Ser599fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620329.1",
"strand": true,
"transcript": "ENST00000950270.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 625,
"aa_ref": "G",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1779,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000912836.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1778dupG",
"hgvs_p": "p.Ser594fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582895.1",
"strand": true,
"transcript": "ENST00000912836.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873695.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1760dupG",
"hgvs_p": "p.Ser588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543754.1",
"strand": true,
"transcript": "ENST00000873695.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950269.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1760dupG",
"hgvs_p": "p.Ser588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620328.1",
"strand": true,
"transcript": "ENST00000950269.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950278.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1760dupG",
"hgvs_p": "p.Ser588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620337.1",
"strand": true,
"transcript": "ENST00000950278.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950281.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1760dupG",
"hgvs_p": "p.Ser588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620340.1",
"strand": true,
"transcript": "ENST00000950281.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950287.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1760dupG",
"hgvs_p": "p.Ser588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620346.1",
"strand": true,
"transcript": "ENST00000950287.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950290.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1760dupG",
"hgvs_p": "p.Ser588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620349.1",
"strand": true,
"transcript": "ENST00000950290.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950296.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1760dupG",
"hgvs_p": "p.Ser588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620355.1",
"strand": true,
"transcript": "ENST00000950296.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1704,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000873692.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1703dupG",
"hgvs_p": "p.Ser569fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543751.1",
"strand": true,
"transcript": "ENST00000873692.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1704,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000873715.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1703dupG",
"hgvs_p": "p.Ser569fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543774.1",
"strand": true,
"transcript": "ENST00000873715.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1704,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950283.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1703dupG",
"hgvs_p": "p.Ser569fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620342.1",
"strand": true,
"transcript": "ENST00000950283.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1704,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950284.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1703dupG",
"hgvs_p": "p.Ser569fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620343.1",
"strand": true,
"transcript": "ENST00000950284.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1704,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000950298.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1703dupG",
"hgvs_p": "p.Ser569fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620357.1",
"strand": true,
"transcript": "ENST00000950298.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 572,
"aa_ref": "G",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1620,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000950285.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1619dupG",
"hgvs_p": "p.Ser541fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620344.1",
"strand": true,
"transcript": "ENST00000950285.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 534,
"aa_ref": "G",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1506,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000950300.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1505dupG",
"hgvs_p": "p.Ser503fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620359.1",
"strand": true,
"transcript": "ENST00000950300.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 499,
"aa_ref": "G",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1401,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000873711.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1400dupG",
"hgvs_p": "p.Ser468fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543770.1",
"strand": true,
"transcript": "ENST00000873711.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 494,
"aa_ref": "G",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1386,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000950289.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1385dupG",
"hgvs_p": "p.Ser463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620348.1",
"strand": true,
"transcript": "ENST00000950289.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005273201.2",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273258.1",
"strand": true,
"transcript": "XM_005273201.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011544238.2",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542540.1",
"strand": true,
"transcript": "XM_011544238.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 2138,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011544239.3",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542541.1",
"strand": true,
"transcript": "XM_011544239.3",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 2060,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024448517.2",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304285.1",
"strand": true,
"transcript": "XM_024448517.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024448518.2",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304286.1",
"strand": true,
"transcript": "XM_024448518.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047425732.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281688.1",
"strand": true,
"transcript": "XM_047425732.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047425739.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281695.1",
"strand": true,
"transcript": "XM_047425739.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047425745.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281701.1",
"strand": true,
"transcript": "XM_047425745.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1845,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047425749.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.1844dupG",
"hgvs_p": "p.Ser616fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281705.1",
"strand": true,
"transcript": "XM_047425749.1",
"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": 3612,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000478406.5",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "n.2706dupG",
"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": "ENST00000478406.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs764847439",
"effect": "frameshift_variant",
"frequency_reference_population": 0.000022930379,
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"gnomad_exomes_ac": 30,
"gnomad_exomes_af": 0.0000205219,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000461346,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "not provided|Autosomal recessive ataxia due to ubiquinone deficiency",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.994,
"pos": 226986631,
"ref": "T",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020247.5"
}
]
}