← 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: 12-55685173-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55685173&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"hgvs_c": "c.3431T>C",
"hgvs_p": "p.Leu1144Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001410977.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 44,
"alphamissense_prediction": null,
"alphamissense_score": 0.153,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Congenital muscular dystrophy due to integrin alpha-7 deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12620937824249268,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "L",
"aa_start": 1100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3521,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3299,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_002206.3",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3299T>C",
"hgvs_p": "p.Leu1100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257879.11",
"protein_coding": true,
"protein_id": "NP_002197.2",
"strand": false,
"transcript": "NM_002206.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "L",
"aa_start": 1100,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3521,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3299,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000257879.11",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3299T>C",
"hgvs_p": "p.Leu1100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002206.3",
"protein_coding": true,
"protein_id": "ENSP00000257879.7",
"strand": false,
"transcript": "ENST00000257879.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "L",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3533,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000553804.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3311T>C",
"hgvs_p": "p.Leu1104Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452120.1",
"strand": false,
"transcript": "ENST00000553804.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "L",
"aa_start": 1144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4258,
"cdna_start": 3653,
"cds_end": null,
"cds_length": 3546,
"cds_start": 3431,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001410977.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3431T>C",
"hgvs_p": "p.Leu1144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397906.1",
"strand": false,
"transcript": "NM_001410977.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "L",
"aa_start": 1144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 3460,
"cds_end": null,
"cds_length": 3546,
"cds_start": 3431,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000555728.5",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3431T>C",
"hgvs_p": "p.Leu1144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452387.1",
"strand": false,
"transcript": "ENST00000555728.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "L",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 3633,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3413,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888141.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3413T>C",
"hgvs_p": "p.Leu1138Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558199.1",
"strand": false,
"transcript": "ENST00000888141.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "L",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 3623,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3398,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888137.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3398T>C",
"hgvs_p": "p.Leu1133Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558196.1",
"strand": false,
"transcript": "ENST00000888137.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "L",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3521,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3332,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888151.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3332T>C",
"hgvs_p": "p.Leu1111Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558210.1",
"strand": false,
"transcript": "ENST00000888151.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "L",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3533,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001144996.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3311T>C",
"hgvs_p": "p.Leu1104Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138468.1",
"strand": false,
"transcript": "NM_001144996.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "L",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 3500,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888150.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3308T>C",
"hgvs_p": "p.Leu1103Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558209.1",
"strand": false,
"transcript": "ENST00000888150.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "L",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 3516,
"cds_end": null,
"cds_length": 3411,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000945417.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3296T>C",
"hgvs_p": "p.Leu1099Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615476.1",
"strand": false,
"transcript": "ENST00000945417.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "L",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 3515,
"cds_end": null,
"cds_length": 3408,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001414029.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3293T>C",
"hgvs_p": "p.Leu1098Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400958.1",
"strand": false,
"transcript": "NM_001414029.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "L",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 3546,
"cds_end": null,
"cds_length": 3408,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888129.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3293T>C",
"hgvs_p": "p.Leu1098Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558189.1",
"strand": false,
"transcript": "ENST00000888129.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "L",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 3512,
"cds_end": null,
"cds_length": 3402,
"cds_start": 3287,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888135.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3287T>C",
"hgvs_p": "p.Leu1096Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558193.1",
"strand": false,
"transcript": "ENST00000888135.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "L",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 3503,
"cds_end": null,
"cds_length": 3396,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001374465.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3281T>C",
"hgvs_p": "p.Leu1094Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361394.1",
"strand": false,
"transcript": "NM_001374465.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "L",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 3483,
"cds_end": null,
"cds_length": 3396,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000347027.10",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3281T>C",
"hgvs_p": "p.Leu1094Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343009.6",
"strand": false,
"transcript": "ENST00000347027.10",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "L",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 3393,
"cds_start": 3278,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888145.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3278T>C",
"hgvs_p": "p.Leu1093Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558204.1",
"strand": false,
"transcript": "ENST00000888145.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "L",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 3407,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3275,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000945420.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3275T>C",
"hgvs_p": "p.Leu1092Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615479.1",
"strand": false,
"transcript": "ENST00000945420.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "L",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 3493,
"cds_end": null,
"cds_length": 3387,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000945415.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3272T>C",
"hgvs_p": "p.Leu1091Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615474.1",
"strand": false,
"transcript": "ENST00000945415.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "L",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 3384,
"cds_start": 3269,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000912204.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3269T>C",
"hgvs_p": "p.Leu1090Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582263.1",
"strand": false,
"transcript": "ENST00000912204.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "L",
"aa_start": 1089,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 3381,
"cds_start": 3266,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888152.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3266T>C",
"hgvs_p": "p.Leu1089Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558211.1",
"strand": false,
"transcript": "ENST00000888152.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 3444,
"cds_end": null,
"cds_length": 3363,
"cds_start": 3248,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888149.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3248T>C",
"hgvs_p": "p.Leu1083Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558208.1",
"strand": false,
"transcript": "ENST00000888149.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "L",
"aa_start": 1081,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4069,
"cdna_start": 3464,
"cds_end": null,
"cds_length": 3357,
"cds_start": 3242,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888138.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3242T>C",
"hgvs_p": "p.Leu1081Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558197.1",
"strand": false,
"transcript": "ENST00000888138.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1117,
"aa_ref": "L",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 3239,
"cds_end": null,
"cds_length": 3354,
"cds_start": 3239,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000691973.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3239T>C",
"hgvs_p": "p.Leu1080Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509141.1",
"strand": false,
"transcript": "ENST00000691973.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "L",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": 3449,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3227,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888147.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3227T>C",
"hgvs_p": "p.Leu1076Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558206.1",
"strand": false,
"transcript": "ENST00000888147.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1112,
"aa_ref": "L",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 3446,
"cds_end": null,
"cds_length": 3339,
"cds_start": 3224,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001414030.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3224T>C",
"hgvs_p": "p.Leu1075Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400959.1",
"strand": false,
"transcript": "NM_001414030.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1108,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": 3434,
"cds_end": null,
"cds_length": 3327,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001414031.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3212T>C",
"hgvs_p": "p.Leu1071Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400960.1",
"strand": false,
"transcript": "NM_001414031.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "L",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3309,
"cds_start": 3194,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000945422.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3194T>C",
"hgvs_p": "p.Leu1065Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615481.1",
"strand": false,
"transcript": "ENST00000945422.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "L",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 3401,
"cds_end": null,
"cds_length": 3294,
"cds_start": 3179,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001414032.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3179T>C",
"hgvs_p": "p.Leu1060Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400961.1",
"strand": false,
"transcript": "NM_001414032.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "L",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 3375,
"cds_end": null,
"cds_length": 3294,
"cds_start": 3179,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888148.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3179T>C",
"hgvs_p": "p.Leu1060Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558207.1",
"strand": false,
"transcript": "ENST00000888148.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "L",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 3417,
"cds_end": null,
"cds_length": 3288,
"cds_start": 3173,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888132.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3173T>C",
"hgvs_p": "p.Leu1058Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558191.1",
"strand": false,
"transcript": "ENST00000888132.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "L",
"aa_start": 1054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 3374,
"cds_end": null,
"cds_length": 3276,
"cds_start": 3161,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888144.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3161T>C",
"hgvs_p": "p.Leu1054Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558203.1",
"strand": false,
"transcript": "ENST00000888144.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "L",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 3369,
"cds_end": null,
"cds_length": 3264,
"cds_start": 3149,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888142.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3149T>C",
"hgvs_p": "p.Leu1050Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558201.1",
"strand": false,
"transcript": "ENST00000888142.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "L",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 3338,
"cds_end": null,
"cds_length": 3231,
"cds_start": 3116,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001414033.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Leu1039Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400962.1",
"strand": false,
"transcript": "NM_001414033.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "L",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 3338,
"cds_end": null,
"cds_length": 3231,
"cds_start": 3116,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888139.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Leu1039Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558198.1",
"strand": false,
"transcript": "ENST00000888139.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "L",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 3256,
"cds_end": null,
"cds_length": 3231,
"cds_start": 3116,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000912205.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Leu1039Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582264.1",
"strand": false,
"transcript": "ENST00000912205.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "L",
"aa_start": 1035,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 3336,
"cds_end": null,
"cds_length": 3219,
"cds_start": 3104,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888133.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3104T>C",
"hgvs_p": "p.Leu1035Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558192.1",
"strand": false,
"transcript": "ENST00000888133.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "L",
"aa_start": 1029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3898,
"cdna_start": 3308,
"cds_end": null,
"cds_length": 3201,
"cds_start": 3086,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888146.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3086T>C",
"hgvs_p": "p.Leu1029Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558205.1",
"strand": false,
"transcript": "ENST00000888146.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "L",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 3296,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3074,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001414034.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3074T>C",
"hgvs_p": "p.Leu1025Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400963.1",
"strand": false,
"transcript": "NM_001414034.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "L",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3904,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3074,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000888136.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3074T>C",
"hgvs_p": "p.Leu1025Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558194.1",
"strand": false,
"transcript": "ENST00000888136.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "L",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 3289,
"cds_end": null,
"cds_length": 3186,
"cds_start": 3071,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000945418.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3071T>C",
"hgvs_p": "p.Leu1024Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615477.1",
"strand": false,
"transcript": "ENST00000945418.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "L",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": 3276,
"cds_end": null,
"cds_length": 3171,
"cds_start": 3056,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000945416.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3056T>C",
"hgvs_p": "p.Leu1019Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615475.1",
"strand": false,
"transcript": "ENST00000945416.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "L",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 3159,
"cds_end": null,
"cds_length": 3135,
"cds_start": 3020,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001144997.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3020T>C",
"hgvs_p": "p.Leu1007Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138469.1",
"strand": false,
"transcript": "NM_001144997.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "L",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 3162,
"cds_end": null,
"cds_length": 3135,
"cds_start": 3020,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000452168.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3020T>C",
"hgvs_p": "p.Leu1007Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393844.2",
"strand": false,
"transcript": "ENST00000452168.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "L",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3135,
"cds_start": 3020,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000945419.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3020T>C",
"hgvs_p": "p.Leu1007Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615478.1",
"strand": false,
"transcript": "ENST00000945419.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "L",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 3135,
"cds_end": null,
"cds_length": 3120,
"cds_start": 3005,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000945421.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3005T>C",
"hgvs_p": "p.Leu1002Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615480.1",
"strand": false,
"transcript": "ENST00000945421.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "L",
"aa_start": 991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 3329,
"cds_end": null,
"cds_length": 3087,
"cds_start": 2972,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001367993.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2972T>C",
"hgvs_p": "p.Leu991Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354922.1",
"strand": false,
"transcript": "NM_001367993.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "L",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 3069,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2963,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000888153.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558212.1",
"strand": false,
"transcript": "ENST00000888153.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "L",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2960,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001414035.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2960T>C",
"hgvs_p": "p.Leu987Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400964.1",
"strand": false,
"transcript": "NM_001414035.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 979,
"aa_ref": "L",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000557257.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2825T>C",
"hgvs_p": "p.Leu942Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450578.2",
"strand": false,
"transcript": "ENST00000557257.2",
"transcript_support_level": 4
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 689,
"aa_ref": "L",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 3349,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1955,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001367994.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.1955T>C",
"hgvs_p": "p.Leu652Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354923.1",
"strand": false,
"transcript": "NM_001367994.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "L",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4240,
"cdna_start": 3635,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3413,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_005268840.3",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3413T>C",
"hgvs_p": "p.Leu1138Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268897.1",
"strand": false,
"transcript": "XM_005268840.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "L",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3992,
"cdna_start": 3387,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3092,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_005268844.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268901.1",
"strand": false,
"transcript": "XM_005268844.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "L",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 3405,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047428792.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284748.1",
"strand": false,
"transcript": "XM_047428792.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "L",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 3449,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3092,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047428793.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284749.1",
"strand": false,
"transcript": "XM_047428793.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "L",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3897,
"cdna_start": 3292,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017019265.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3041T>C",
"hgvs_p": "p.Leu1014Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874754.1",
"strand": false,
"transcript": "XM_017019265.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "L",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 3336,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047428794.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3041T>C",
"hgvs_p": "p.Leu1014Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284750.1",
"strand": false,
"transcript": "XM_047428794.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "L",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": 3288,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047428795.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3041T>C",
"hgvs_p": "p.Leu1014Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284751.1",
"strand": false,
"transcript": "XM_047428795.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "L",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3937,
"cdna_start": 3332,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047428796.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3041T>C",
"hgvs_p": "p.Leu1014Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284752.1",
"strand": false,
"transcript": "XM_047428796.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "L",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": 3288,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2960,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047428797.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2960T>C",
"hgvs_p": "p.Leu987Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284753.1",
"strand": false,
"transcript": "XM_047428797.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "L",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3774,
"cdna_start": 3169,
"cds_end": null,
"cds_length": 3072,
"cds_start": 2957,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_005268848.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2957T>C",
"hgvs_p": "p.Leu986Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268905.1",
"strand": false,
"transcript": "XM_005268848.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "L",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": 3255,
"cds_end": null,
"cds_length": 3057,
"cds_start": 2942,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047428798.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2942T>C",
"hgvs_p": "p.Leu981Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284754.1",
"strand": false,
"transcript": "XM_047428798.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 926,
"aa_ref": "L",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 3354,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2666,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047428799.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2666T>C",
"hgvs_p": "p.Leu889Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284755.1",
"strand": false,
"transcript": "XM_047428799.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1122,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3739,
"cdna_start": null,
"cds_end": null,
"cds_length": 3369,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000557555.3",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.*55T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451039.3",
"strand": false,
"transcript": "ENST00000557555.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4371,
"cdna_start": null,
"cds_end": null,
"cds_length": 3489,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_005268841.3",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.*55T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268898.1",
"strand": false,
"transcript": "XM_005268841.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000553893.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*2923T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452467.1",
"strand": false,
"transcript": "ENST00000553893.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000554327.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*1036T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450693.2",
"strand": false,
"transcript": "ENST00000554327.6",
"transcript_support_level": 2
},
{
"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": 3302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000557058.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.2714T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000557058.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000686981.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*3010T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510795.1",
"strand": false,
"transcript": "ENST00000686981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000687390.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.1405T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000687390.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2964,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000688413.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.2413T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000688413.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000691052.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*1783T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508886.1",
"strand": false,
"transcript": "ENST00000691052.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000691846.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*1751T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508870.1",
"strand": false,
"transcript": "ENST00000691846.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000553893.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*2923T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452467.1",
"strand": false,
"transcript": "ENST00000553893.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000554327.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*1036T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450693.2",
"strand": false,
"transcript": "ENST00000554327.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000686981.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*3010T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510795.1",
"strand": false,
"transcript": "ENST00000686981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000691052.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*1783T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508886.1",
"strand": false,
"transcript": "ENST00000691052.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000691846.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "n.*1751T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508870.1",
"strand": false,
"transcript": "ENST00000691846.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs370654924",
"effect": "missense_variant",
"frequency_reference_population": 0.00002725903,
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"gnomad_exomes_ac": 34,
"gnomad_exomes_af": 0.0000232587,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000656487,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Congenital muscular dystrophy due to integrin alpha-7 deficiency|not provided|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.291,
"pos": 55685173,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.204,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001410977.1"
}
]
}