← 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: 3-49531817-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49531817&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49531817,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004393.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_004393.6",
"protein_id": "NP_004384.5",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "ENST00000308775.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004393.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000308775.7",
"protein_id": "ENSP00000312435.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "NM_004393.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308775.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001165928.4",
"protein_id": "NP_001159400.3",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165928.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177634.3",
"protein_id": "NP_001171105.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177634.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177635.3",
"protein_id": "NP_001171106.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177635.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177636.3",
"protein_id": "NP_001171107.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177636.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177637.3",
"protein_id": "NP_001171108.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177637.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177638.3",
"protein_id": "NP_001171109.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177638.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177639.3",
"protein_id": "NP_001171110.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177639.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177640.3",
"protein_id": "NP_001171111.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177640.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177641.3",
"protein_id": "NP_001171112.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177641.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177642.3",
"protein_id": "NP_001171113.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177642.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177643.3",
"protein_id": "NP_001171114.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177643.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001177644.3",
"protein_id": "NP_001171115.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177644.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438880.1",
"protein_id": "NP_001425809.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438880.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438881.1",
"protein_id": "NP_001425810.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438881.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438882.1",
"protein_id": "NP_001425811.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 5905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438882.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438883.1",
"protein_id": "NP_001425812.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438883.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438884.1",
"protein_id": "NP_001425813.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 5774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438884.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438885.1",
"protein_id": "NP_001425814.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438885.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438886.1",
"protein_id": "NP_001425815.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438886.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438887.1",
"protein_id": "NP_001425816.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 5957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438887.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "NM_001438888.1",
"protein_id": "NP_001425817.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438888.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000418588.6",
"protein_id": "ENSP00000405859.2",
"transcript_support_level": 3,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418588.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000421560.6",
"protein_id": "ENSP00000412067.2",
"transcript_support_level": 4,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421560.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000428779.7",
"protein_id": "ENSP00000401382.3",
"transcript_support_level": 3,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428779.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000430636.2",
"protein_id": "ENSP00000401805.2",
"transcript_support_level": 4,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430636.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000431960.6",
"protein_id": "ENSP00000388833.2",
"transcript_support_level": 4,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431960.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000435508.8",
"protein_id": "ENSP00000415321.4",
"transcript_support_level": 3,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435508.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000452060.7",
"protein_id": "ENSP00000410145.3",
"transcript_support_level": 2,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452060.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000452317.6",
"protein_id": "ENSP00000387859.2",
"transcript_support_level": 4,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452317.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000466701.2",
"protein_id": "ENSP00000513216.1",
"transcript_support_level": 4,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466701.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000469139.2",
"protein_id": "ENSP00000501165.2",
"transcript_support_level": 4,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469139.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000496474.2",
"protein_id": "ENSP00000513217.1",
"transcript_support_level": 4,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 5886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496474.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000673708.1",
"protein_id": "ENSP00000501140.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673708.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000697271.1",
"protein_id": "ENSP00000513218.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697271.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882459.1",
"protein_id": "ENSP00000552518.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882459.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882460.1",
"protein_id": "ENSP00000552519.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882460.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882461.1",
"protein_id": "ENSP00000552520.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882461.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882462.1",
"protein_id": "ENSP00000552521.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 5776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882462.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882463.1",
"protein_id": "ENSP00000552522.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882463.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882464.1",
"protein_id": "ENSP00000552523.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882464.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882465.1",
"protein_id": "ENSP00000552524.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882465.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882466.1",
"protein_id": "ENSP00000552525.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 5940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882466.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882467.1",
"protein_id": "ENSP00000552526.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882467.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882468.1",
"protein_id": "ENSP00000552527.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882468.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882469.1",
"protein_id": "ENSP00000552528.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882469.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882470.1",
"protein_id": "ENSP00000552529.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 5883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882470.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882471.1",
"protein_id": "ENSP00000552530.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 5474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882471.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882472.1",
"protein_id": "ENSP00000552531.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882472.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882473.1",
"protein_id": "ENSP00000552532.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 5601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882473.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882474.1",
"protein_id": "ENSP00000552533.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882474.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882475.1",
"protein_id": "ENSP00000552534.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882475.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882476.1",
"protein_id": "ENSP00000552535.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882476.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882477.1",
"protein_id": "ENSP00000552536.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 5531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882477.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882478.1",
"protein_id": "ENSP00000552537.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882478.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882479.1",
"protein_id": "ENSP00000552538.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882479.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882480.1",
"protein_id": "ENSP00000552539.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882480.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882481.1",
"protein_id": "ENSP00000552540.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882481.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882482.1",
"protein_id": "ENSP00000552541.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882482.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882483.1",
"protein_id": "ENSP00000552542.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882483.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882484.1",
"protein_id": "ENSP00000552543.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882484.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882485.1",
"protein_id": "ENSP00000552544.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882485.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882486.1",
"protein_id": "ENSP00000552545.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 5471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882486.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000882487.1",
"protein_id": "ENSP00000552546.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 5627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882487.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936846.1",
"protein_id": "ENSP00000606905.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 5666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936846.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936847.1",
"protein_id": "ENSP00000606906.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936847.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936848.1",
"protein_id": "ENSP00000606907.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936848.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936849.1",
"protein_id": "ENSP00000606908.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 5523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936849.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936850.1",
"protein_id": "ENSP00000606909.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936850.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936851.1",
"protein_id": "ENSP00000606910.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936851.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936852.1",
"protein_id": "ENSP00000606911.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936852.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936853.1",
"protein_id": "ENSP00000606912.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 5512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936853.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936854.1",
"protein_id": "ENSP00000606913.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936854.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936855.1",
"protein_id": "ENSP00000606914.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936855.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936856.1",
"protein_id": "ENSP00000606915.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936856.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936857.1",
"protein_id": "ENSP00000606916.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936857.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936858.1",
"protein_id": "ENSP00000606917.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936858.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936859.1",
"protein_id": "ENSP00000606918.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 5679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936859.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936860.1",
"protein_id": "ENSP00000606919.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 5869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936860.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936861.1",
"protein_id": "ENSP00000606920.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936861.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936862.1",
"protein_id": "ENSP00000606921.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936862.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936863.1",
"protein_id": "ENSP00000606922.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936863.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936864.1",
"protein_id": "ENSP00000606923.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936864.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000936865.1",
"protein_id": "ENSP00000606924.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936865.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000966346.1",
"protein_id": "ENSP00000636405.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966346.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000966347.1",
"protein_id": "ENSP00000636406.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 5752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966347.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000966348.1",
"protein_id": "ENSP00000636407.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966348.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000966349.1",
"protein_id": "ENSP00000636408.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966349.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "ENST00000966350.1",
"protein_id": "ENSP00000636409.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966350.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447542.1",
"protein_id": "XP_047303498.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447542.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447543.1",
"protein_id": "XP_047303499.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447543.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447545.1",
"protein_id": "XP_047303501.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 5752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447545.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447546.1",
"protein_id": "XP_047303502.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447546.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447549.1",
"protein_id": "XP_047303505.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 5843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447549.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447550.1",
"protein_id": "XP_047303506.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447550.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447551.1",
"protein_id": "XP_047303507.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447551.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447552.1",
"protein_id": "XP_047303508.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447552.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447553.1",
"protein_id": "XP_047303509.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447553.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447555.1",
"protein_id": "XP_047303511.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447555.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447557.1",
"protein_id": "XP_047303513.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447557.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447558.1",
"protein_id": "XP_047303514.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447558.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447559.1",
"protein_id": "XP_047303515.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447559.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447560.1",
"protein_id": "XP_047303516.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447560.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447561.1",
"protein_id": "XP_047303517.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 5726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447561.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447562.1",
"protein_id": "XP_047303518.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447562.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447563.1",
"protein_id": "XP_047303519.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447563.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447564.1",
"protein_id": "XP_047303520.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447564.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447565.1",
"protein_id": "XP_047303521.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447565.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447566.1",
"protein_id": "XP_047303522.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 5806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447566.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447567.1",
"protein_id": "XP_047303523.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447567.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447568.1",
"protein_id": "XP_047303524.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447568.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447569.1",
"protein_id": "XP_047303525.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 5704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447569.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447570.1",
"protein_id": "XP_047303526.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447570.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447571.1",
"protein_id": "XP_047303527.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447571.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447572.1",
"protein_id": "XP_047303528.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447572.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447573.1",
"protein_id": "XP_047303529.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447573.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447574.1",
"protein_id": "XP_047303530.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447574.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447575.1",
"protein_id": "XP_047303531.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447575.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447576.1",
"protein_id": "XP_047303532.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 5649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447576.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447577.1",
"protein_id": "XP_047303533.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 5682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447577.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447578.1",
"protein_id": "XP_047303534.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447578.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala",
"transcript": "XM_047447579.1",
"protein_id": "XP_047303535.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 895,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447579.1"
}
],
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"dbsnp": "rs149838438",
"frequency_reference_population": 0.00013200936,
"hom_count_reference_population": 0,
"allele_count_reference_population": 213,
"gnomad_exomes_af": 0.000136809,
"gnomad_genomes_af": 0.0000857339,
"gnomad_exomes_ac": 200,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11153429746627808,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0823,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.285,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004393.6",
"gene_symbol": "DAG1",
"hgnc_id": 2666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Thr436Ala"
}
],
"clinvar_disease": " type A9,Autosomal recessive limb-girdle muscular dystrophy type 2P,Inborn genetic diseases,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Inborn genetic diseases|Autosomal recessive limb-girdle muscular dystrophy type 2P;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}