← 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: 18-34794065-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34794065&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 34794065,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000444659.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386795.1",
"protein_id": "NP_001373724.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 770,
"cds_start": 177,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "ENST00000444659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000444659.6",
"protein_id": "ENSP00000405819.2",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 770,
"cds_start": 177,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "NM_001386795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000598334.5",
"protein_id": "ENSP00000470152.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 724,
"cds_start": 177,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000399121.9",
"protein_id": "ENSP00000382072.5",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 690,
"cds_start": 177,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000598142.5",
"protein_id": "ENSP00000470716.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 686,
"cds_start": 177,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000595022.5",
"protein_id": "ENSP00000473078.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000348997.9",
"protein_id": "ENSP00000336682.4",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 567,
"cds_start": 177,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000598774.6",
"protein_id": "ENSP00000472031.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 513,
"cds_start": 177,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000315456.10",
"protein_id": "ENSP00000322519.5",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 374,
"cds_start": 177,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000554864.7",
"protein_id": "ENSP00000451516.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000684377.1",
"protein_id": "ENSP00000506757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": -4,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000680767.2",
"protein_id": "ENSP00000505379.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": -4,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000682581.1",
"protein_id": "ENSP00000507924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000682923.1",
"protein_id": "ENSP00000508131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000681274.1",
"protein_id": "ENSP00000505183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000585446.1",
"protein_id": "ENSP00000507645.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386788.1",
"protein_id": "NP_001373717.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 770,
"cds_start": 177,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000679796.1",
"protein_id": "ENSP00000506659.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 770,
"cds_start": 177,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001390.5",
"protein_id": "NP_001381.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 743,
"cds_start": 177,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000399113.7",
"protein_id": "ENSP00000382064.3",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 743,
"cds_start": 177,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001198938.2",
"protein_id": "NP_001185867.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 724,
"cds_start": 177,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386753.1",
"protein_id": "NP_001373682.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 724,
"cds_start": 177,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386754.1",
"protein_id": "NP_001373683.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386755.1",
"protein_id": "NP_001373684.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386756.1",
"protein_id": "NP_001373685.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386757.1",
"protein_id": "NP_001373686.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386758.1",
"protein_id": "NP_001373687.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 6401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386759.1",
"protein_id": "NP_001373688.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000680822.1",
"protein_id": "ENSP00000505718.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000684266.1",
"protein_id": "ENSP00000507106.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386760.1",
"protein_id": "NP_001373689.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 712,
"cds_start": 177,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001198939.2",
"protein_id": "NP_001185868.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 690,
"cds_start": 177,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 6513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386761.1",
"protein_id": "NP_001373690.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 686,
"cds_start": 177,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_032975.4",
"protein_id": "NP_116757.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 686,
"cds_start": 177,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000683379.1",
"protein_id": "ENSP00000507995.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 686,
"cds_start": 177,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000684359.1",
"protein_id": "ENSP00000507300.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 686,
"cds_start": 177,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386762.1",
"protein_id": "NP_001373691.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 685,
"cds_start": 177,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001198940.2",
"protein_id": "NP_001185869.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386763.1",
"protein_id": "NP_001373692.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386764.1",
"protein_id": "NP_001373693.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386765.1",
"protein_id": "NP_001373694.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386766.1",
"protein_id": "NP_001373695.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 6311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386767.1",
"protein_id": "NP_001373696.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000283365.14",
"protein_id": "ENSP00000283365.10",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000681241.1",
"protein_id": "ENSP00000506495.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000683705.1",
"protein_id": "ENSP00000507911.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386768.1",
"protein_id": "NP_001373697.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 682,
"cds_start": 177,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386769.1",
"protein_id": "NP_001373698.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 682,
"cds_start": 177,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000681470.1",
"protein_id": "ENSP00000505722.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 682,
"cds_start": 177,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 5776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001391.5",
"protein_id": "NP_001382.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 570,
"cds_start": 177,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_032978.7",
"protein_id": "NP_116760.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 567,
"cds_start": 177,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386770.1",
"protein_id": "NP_001373699.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 540,
"cds_start": 177,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_032979.5",
"protein_id": "NP_116761.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 513,
"cds_start": 177,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000679936.1",
"protein_id": "ENSP00000506586.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 513,
"cds_start": 177,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000680346.1",
"protein_id": "ENSP00000505947.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 513,
"cds_start": 177,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001198941.2",
"protein_id": "NP_001185870.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 177,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386771.1",
"protein_id": "NP_001373700.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 177,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386772.1",
"protein_id": "NP_001373701.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 177,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000597599.5",
"protein_id": "ENSP00000473119.1",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 177,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000682483.1",
"protein_id": "ENSP00000508159.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 177,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000683370.1",
"protein_id": "ENSP00000507104.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 177,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386773.1",
"protein_id": "NP_001373702.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 509,
"cds_start": 177,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386774.1",
"protein_id": "NP_001373703.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 509,
"cds_start": 177,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386775.1",
"protein_id": "NP_001373704.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 374,
"cds_start": 177,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001392.5",
"protein_id": "NP_001383.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 374,
"cds_start": 177,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000680366.1",
"protein_id": "ENSP00000506271.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 372,
"cds_start": 177,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001128175.2",
"protein_id": "NP_001121647.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386776.1",
"protein_id": "NP_001373705.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001386777.1",
"protein_id": "NP_001373706.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000684610.1",
"protein_id": "ENSP00000508348.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000684734.1",
"protein_id": "ENSP00000506928.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000683092.1",
"protein_id": "ENSP00000508057.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 329,
"cds_start": 177,
"cds_end": null,
"cds_length": 991,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000684560.1",
"protein_id": "ENSP00000507082.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 326,
"cds_start": 177,
"cds_end": null,
"cds_length": 982,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "NM_001198945.2",
"protein_id": "NP_001185874.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 320,
"cds_start": 177,
"cds_end": null,
"cds_length": 963,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000596745.5",
"protein_id": "ENSP00000469121.1",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 320,
"cds_start": 177,
"cds_end": null,
"cds_length": 963,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000590598.5",
"protein_id": "ENSP00000468473.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 132,
"cds_start": 177,
"cds_end": null,
"cds_length": 399,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "ENST00000590412.5",
"protein_id": "ENSP00000465063.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 118,
"cds_start": 177,
"cds_end": null,
"cds_length": 359,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437316.1",
"protein_id": "XP_047293272.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 788,
"cds_start": 177,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437317.1",
"protein_id": "XP_047293273.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 787,
"cds_start": 177,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437318.1",
"protein_id": "XP_047293274.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 761,
"cds_start": 177,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437319.1",
"protein_id": "XP_047293275.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 760,
"cds_start": 177,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_017025575.3",
"protein_id": "XP_016881064.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 754,
"cds_start": 177,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437320.1",
"protein_id": "XP_047293276.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 754,
"cds_start": 177,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437321.1",
"protein_id": "XP_047293277.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 747,
"cds_start": 177,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437340.1",
"protein_id": "XP_047293296.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 746,
"cds_start": 177,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437322.1",
"protein_id": "XP_047293278.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 743,
"cds_start": 177,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437323.1",
"protein_id": "XP_047293279.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 731,
"cds_start": 177,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437324.1",
"protein_id": "XP_047293280.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 724,
"cds_start": 177,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437325.1",
"protein_id": "XP_047293281.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 723,
"cds_start": 177,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437326.1",
"protein_id": "XP_047293282.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 716,
"cds_start": 177,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437327.1",
"protein_id": "XP_047293283.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 713,
"cds_start": 177,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437328.1",
"protein_id": "XP_047293284.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 712,
"cds_start": 177,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437329.1",
"protein_id": "XP_047293285.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 709,
"cds_start": 177,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 6389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437330.1",
"protein_id": "XP_047293286.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437331.1",
"protein_id": "XP_047293287.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437332.1",
"protein_id": "XP_047293288.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 683,
"cds_start": 177,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 6704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437333.1",
"protein_id": "XP_047293289.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 682,
"cds_start": 177,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 6489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437334.1",
"protein_id": "XP_047293290.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 682,
"cds_start": 177,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437335.1",
"protein_id": "XP_047293291.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 539,
"cds_start": 177,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437336.1",
"protein_id": "XP_047293292.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 512,
"cds_start": 177,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437337.1",
"protein_id": "XP_047293293.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 177,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437338.1",
"protein_id": "XP_047293294.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met",
"transcript": "XM_047437339.1",
"protein_id": "XP_047293295.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 371,
"cds_start": 177,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*188A>G",
"hgvs_p": null,
"transcript": "ENST00000588949.6",
"protein_id": "ENSP00000468631.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*188A>G",
"hgvs_p": null,
"transcript": "ENST00000679372.1",
"protein_id": "ENSP00000506098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.177A>G",
"hgvs_p": null,
"transcript": "ENST00000681065.1",
"protein_id": "ENSP00000504909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*188A>G",
"hgvs_p": null,
"transcript": "ENST00000682406.1",
"protein_id": "ENSP00000506790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000684377.1",
"protein_id": "ENSP00000506757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": -4,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000680767.2",
"protein_id": "ENSP00000505379.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": -4,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000682581.1",
"protein_id": "ENSP00000507924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000682923.1",
"protein_id": "ENSP00000508131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000681274.1",
"protein_id": "ENSP00000505183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.-109A>G",
"hgvs_p": null,
"transcript": "ENST00000585446.1",
"protein_id": "ENSP00000507645.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*188A>G",
"hgvs_p": null,
"transcript": "ENST00000588949.6",
"protein_id": "ENSP00000468631.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*188A>G",
"hgvs_p": null,
"transcript": "ENST00000679372.1",
"protein_id": "ENSP00000506098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "n.*188A>G",
"hgvs_p": null,
"transcript": "ENST00000682406.1",
"protein_id": "ENSP00000506790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"dbsnp": "rs1057518968",
"frequency_reference_population": 0.000009293738,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000820905,
"gnomad_genomes_af": 0.0000197125,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5272309184074402,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.517,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7321,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.072,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000444659.6",
"gene_symbol": "DTNA",
"hgnc_id": 3057,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.177A>G",
"hgvs_p": "p.Ile59Met"
}
],
"clinvar_disease": "Cardiac arrhythmia,Left ventricular noncompaction 1,Noncompaction cardiomyopathy",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "Noncompaction cardiomyopathy;Cardiac arrhythmia|Left ventricular noncompaction 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}