← 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: 3-49530842-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49530842&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DAG1",
"hgnc_id": 2666,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_004393.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1295,
"alphamissense_prediction": null,
"alphamissense_score": 0.0888,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " type A9,Autosomal recessive limb-girdle muscular dystrophy type 2P,DAG1-related disorder,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00788646936416626,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 614,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004393.6",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308775.7",
"protein_coding": true,
"protein_id": "NP_004384.5",
"strand": true,
"transcript": "NM_004393.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 614,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000308775.7",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004393.6",
"protein_coding": true,
"protein_id": "ENSP00000312435.2",
"strand": true,
"transcript": "ENST00000308775.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 711,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000479935.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "n.642G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000479935.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 975,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001165928.4",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159400.3",
"strand": true,
"transcript": "NM_001165928.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 918,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001177634.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171105.2",
"strand": true,
"transcript": "NM_001177634.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5280,
"cdna_start": 507,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177635.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171106.2",
"strand": true,
"transcript": "NM_001177635.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5669,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001177636.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171107.2",
"strand": true,
"transcript": "NM_001177636.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5507,
"cdna_start": 734,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177637.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171108.2",
"strand": true,
"transcript": "NM_001177637.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 765,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177638.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171109.2",
"strand": true,
"transcript": "NM_001177638.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5228,
"cdna_start": 455,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177639.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171110.2",
"strand": true,
"transcript": "NM_001177639.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 671,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177640.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171111.2",
"strand": true,
"transcript": "NM_001177640.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5534,
"cdna_start": 761,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177641.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171112.2",
"strand": true,
"transcript": "NM_001177641.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5439,
"cdna_start": 666,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177642.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171113.2",
"strand": true,
"transcript": "NM_001177642.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 555,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177643.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171114.2",
"strand": true,
"transcript": "NM_001177643.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 754,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177644.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171115.2",
"strand": true,
"transcript": "NM_001177644.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6032,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438880.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425809.1",
"strand": true,
"transcript": "NM_001438880.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438881.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425810.1",
"strand": true,
"transcript": "NM_001438881.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5905,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438882.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425811.1",
"strand": true,
"transcript": "NM_001438882.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 756,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438883.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425812.1",
"strand": true,
"transcript": "NM_001438883.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438884.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425813.1",
"strand": true,
"transcript": "NM_001438884.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5595,
"cdna_start": 822,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438885.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425814.1",
"strand": true,
"transcript": "NM_001438885.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 907,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438886.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425815.1",
"strand": true,
"transcript": "NM_001438886.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5957,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438887.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425816.1",
"strand": true,
"transcript": "NM_001438887.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": 590,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438888.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425817.1",
"strand": true,
"transcript": "NM_001438888.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 797,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000418588.6",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405859.2",
"strand": true,
"transcript": "ENST00000418588.6",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 590,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000421560.6",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412067.2",
"strand": true,
"transcript": "ENST00000421560.6",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 885,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000428779.7",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401382.3",
"strand": true,
"transcript": "ENST00000428779.7",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 889,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000430636.2",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401805.2",
"strand": true,
"transcript": "ENST00000430636.2",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 527,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000431960.6",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388833.2",
"strand": true,
"transcript": "ENST00000431960.6",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 724,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000435508.8",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415321.4",
"strand": true,
"transcript": "ENST00000435508.8",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 659,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000452060.7",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410145.3",
"strand": true,
"transcript": "ENST00000452060.7",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5673,
"cdna_start": 900,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000452317.6",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387859.2",
"strand": true,
"transcript": "ENST00000452317.6",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5672,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000466701.2",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513216.1",
"strand": true,
"transcript": "ENST00000466701.2",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 790,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000469139.2",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501165.2",
"strand": true,
"transcript": "ENST00000469139.2",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5886,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000496474.2",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513217.1",
"strand": true,
"transcript": "ENST00000496474.2",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 867,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000673708.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501140.1",
"strand": true,
"transcript": "ENST00000673708.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 883,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000697271.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513218.1",
"strand": true,
"transcript": "ENST00000697271.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882459.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552518.1",
"strand": true,
"transcript": "ENST00000882459.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 850,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882460.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552519.1",
"strand": true,
"transcript": "ENST00000882460.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5793,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882461.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552520.1",
"strand": true,
"transcript": "ENST00000882461.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5776,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882462.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552521.1",
"strand": true,
"transcript": "ENST00000882462.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5641,
"cdna_start": 868,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882463.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552522.1",
"strand": true,
"transcript": "ENST00000882463.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 887,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882464.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552523.1",
"strand": true,
"transcript": "ENST00000882464.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 882,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882465.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552524.1",
"strand": true,
"transcript": "ENST00000882465.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5940,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882466.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552525.1",
"strand": true,
"transcript": "ENST00000882466.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882467.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552526.1",
"strand": true,
"transcript": "ENST00000882467.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5723,
"cdna_start": 950,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882468.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552527.1",
"strand": true,
"transcript": "ENST00000882468.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5836,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882469.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552528.1",
"strand": true,
"transcript": "ENST00000882469.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5883,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882470.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552529.1",
"strand": true,
"transcript": "ENST00000882470.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5474,
"cdna_start": 701,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882471.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552530.1",
"strand": true,
"transcript": "ENST00000882471.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882472.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552531.1",
"strand": true,
"transcript": "ENST00000882472.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5601,
"cdna_start": 828,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882473.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552532.1",
"strand": true,
"transcript": "ENST00000882473.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5525,
"cdna_start": 754,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882474.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552533.1",
"strand": true,
"transcript": "ENST00000882474.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5565,
"cdna_start": 792,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882475.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552534.1",
"strand": true,
"transcript": "ENST00000882475.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5668,
"cdna_start": 900,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882476.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552535.1",
"strand": true,
"transcript": "ENST00000882476.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5531,
"cdna_start": 760,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882477.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552536.1",
"strand": true,
"transcript": "ENST00000882477.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5747,
"cdna_start": 974,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882478.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552537.1",
"strand": true,
"transcript": "ENST00000882478.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5613,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882479.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552538.1",
"strand": true,
"transcript": "ENST00000882479.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882480.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552539.1",
"strand": true,
"transcript": "ENST00000882480.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882481.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552540.1",
"strand": true,
"transcript": "ENST00000882481.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4535,
"cdna_start": 766,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882482.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552541.1",
"strand": true,
"transcript": "ENST00000882482.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882483.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552542.1",
"strand": true,
"transcript": "ENST00000882483.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4566,
"cdna_start": 880,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882484.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552543.1",
"strand": true,
"transcript": "ENST00000882484.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882485.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552544.1",
"strand": true,
"transcript": "ENST00000882485.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5471,
"cdna_start": 701,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882486.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552545.1",
"strand": true,
"transcript": "ENST00000882486.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5627,
"cdna_start": 854,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882487.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552546.1",
"strand": true,
"transcript": "ENST00000882487.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5666,
"cdna_start": 893,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936846.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606905.1",
"strand": true,
"transcript": "ENST00000936846.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5708,
"cdna_start": 938,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936847.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606906.1",
"strand": true,
"transcript": "ENST00000936847.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5289,
"cdna_start": 521,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000936848.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606907.1",
"strand": true,
"transcript": "ENST00000936848.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5523,
"cdna_start": 750,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936849.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606908.1",
"strand": true,
"transcript": "ENST00000936849.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5418,
"cdna_start": 645,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936850.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606909.1",
"strand": true,
"transcript": "ENST00000936850.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936851.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606910.1",
"strand": true,
"transcript": "ENST00000936851.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5503,
"cdna_start": 730,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936852.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606911.1",
"strand": true,
"transcript": "ENST00000936852.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5512,
"cdna_start": 739,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936853.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606912.1",
"strand": true,
"transcript": "ENST00000936853.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 725,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936854.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606913.1",
"strand": true,
"transcript": "ENST00000936854.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 693,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936855.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606914.1",
"strand": true,
"transcript": "ENST00000936855.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936856.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606915.1",
"strand": true,
"transcript": "ENST00000936856.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936857.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606916.1",
"strand": true,
"transcript": "ENST00000936857.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5738,
"cdna_start": 965,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936858.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606917.1",
"strand": true,
"transcript": "ENST00000936858.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": 906,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936859.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606918.1",
"strand": true,
"transcript": "ENST00000936859.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5869,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936860.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606919.1",
"strand": true,
"transcript": "ENST00000936860.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5602,
"cdna_start": 831,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936861.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606920.1",
"strand": true,
"transcript": "ENST00000936861.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936862.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606921.1",
"strand": true,
"transcript": "ENST00000936862.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 803,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936863.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606922.1",
"strand": true,
"transcript": "ENST00000936863.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 797,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936864.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606923.1",
"strand": true,
"transcript": "ENST00000936864.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5468,
"cdna_start": 695,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000936865.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606924.1",
"strand": true,
"transcript": "ENST00000936865.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966346.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636405.1",
"strand": true,
"transcript": "ENST00000966346.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5752,
"cdna_start": 981,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966347.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636406.1",
"strand": true,
"transcript": "ENST00000966347.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4905,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966348.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636407.1",
"strand": true,
"transcript": "ENST00000966348.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966349.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636408.1",
"strand": true,
"transcript": "ENST00000966349.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966350.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636409.1",
"strand": true,
"transcript": "ENST00000966350.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447542.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303498.1",
"strand": true,
"transcript": "XM_047447542.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5805,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447543.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303499.1",
"strand": true,
"transcript": "XM_047447543.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5752,
"cdna_start": 979,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447545.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303501.1",
"strand": true,
"transcript": "XM_047447545.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5741,
"cdna_start": 968,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447546.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303502.1",
"strand": true,
"transcript": "XM_047447546.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5843,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047447549.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303505.1",
"strand": true,
"transcript": "XM_047447549.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5524,
"cdna_start": 751,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447550.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303506.1",
"strand": true,
"transcript": "XM_047447550.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5548,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447551.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303507.1",
"strand": true,
"transcript": "XM_047447551.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 699,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047447552.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303508.1",
"strand": true,
"transcript": "XM_047447552.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 723,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047447553.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303509.1",
"strand": true,
"transcript": "XM_047447553.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5820,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447555.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303511.1",
"strand": true,
"transcript": "XM_047447555.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5846,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447557.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303513.1",
"strand": true,
"transcript": "XM_047447557.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6276,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447558.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303514.1",
"strand": true,
"transcript": "XM_047447558.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447559.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303515.1",
"strand": true,
"transcript": "XM_047447559.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5877,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447560.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303516.1",
"strand": true,
"transcript": "XM_047447560.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5726,
"cdna_start": 953,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447561.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303517.1",
"strand": true,
"transcript": "XM_047447561.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5700,
"cdna_start": 927,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447562.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303518.1",
"strand": true,
"transcript": "XM_047447562.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5721,
"cdna_start": 948,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447563.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303519.1",
"strand": true,
"transcript": "XM_047447563.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5695,
"cdna_start": 922,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447564.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303520.1",
"strand": true,
"transcript": "XM_047447564.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447565.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303521.1",
"strand": true,
"transcript": "XM_047447565.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5806,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447566.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303522.1",
"strand": true,
"transcript": "XM_047447566.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447567.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303523.1",
"strand": true,
"transcript": "XM_047447567.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447568.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303524.1",
"strand": true,
"transcript": "XM_047447568.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5704,
"cdna_start": 931,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447569.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303525.1",
"strand": true,
"transcript": "XM_047447569.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5754,
"cdna_start": 981,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447570.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303526.1",
"strand": true,
"transcript": "XM_047447570.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447571.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303527.1",
"strand": true,
"transcript": "XM_047447571.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6177,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447572.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303528.1",
"strand": true,
"transcript": "XM_047447572.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5553,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447573.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303529.1",
"strand": true,
"transcript": "XM_047447573.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6182,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447574.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303530.1",
"strand": true,
"transcript": "XM_047447574.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047447575.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303531.1",
"strand": true,
"transcript": "XM_047447575.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 876,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447576.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303532.1",
"strand": true,
"transcript": "XM_047447576.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5682,
"cdna_start": 909,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447577.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303533.1",
"strand": true,
"transcript": "XM_047447577.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": 802,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047447578.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303534.1",
"strand": true,
"transcript": "XM_047447578.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 895,
"aa_ref": "D",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": 833,
"cds_end": null,
"cds_length": 2688,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447579.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Asp111Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303535.1",
"strand": true,
"transcript": "XM_047447579.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000461492.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "n.211G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000461492.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs117209107",
"effect": "missense_variant",
"frequency_reference_population": 0.00080225,
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"gnomad_exomes_ac": 1149,
"gnomad_exomes_af": 0.000785972,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_ac": 146,
"gnomad_genomes_af": 0.000958471,
"gnomad_genomes_homalt": 4,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 7,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2P|not specified|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9;Autosomal recessive limb-girdle muscular dystrophy type 2P|not provided|DAG1-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.223,
"pos": 49530842,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.778,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004393.6"
}
]
}