← 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: 13-27440036-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=27440036&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 27440036,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152912.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "NM_152912.5",
"protein_id": "NP_690876.3",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381120.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152912.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000381120.8",
"protein_id": "ENSP00000370512.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152912.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381120.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000405591.3",
"protein_id": "ENSP00000384659.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405591.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "NM_001166261.2",
"protein_id": "NP_001159733.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166261.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "NM_001166262.2",
"protein_id": "NP_001159734.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166262.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "NM_001166263.2",
"protein_id": "NP_001159735.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166263.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000381116.5",
"protein_id": "ENSP00000370508.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381116.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884652.1",
"protein_id": "ENSP00000554711.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884652.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884653.1",
"protein_id": "ENSP00000554712.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884653.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884655.1",
"protein_id": "ENSP00000554714.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884655.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884656.1",
"protein_id": "ENSP00000554715.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884656.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884657.1",
"protein_id": "ENSP00000554716.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884657.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884658.1",
"protein_id": "ENSP00000554717.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884658.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884659.1",
"protein_id": "ENSP00000554718.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884659.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884660.1",
"protein_id": "ENSP00000554719.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884660.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884661.1",
"protein_id": "ENSP00000554720.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884661.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884662.1",
"protein_id": "ENSP00000554721.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884662.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920842.1",
"protein_id": "ENSP00000590901.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920842.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920843.1",
"protein_id": "ENSP00000590902.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920843.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920844.1",
"protein_id": "ENSP00000590903.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920844.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920846.1",
"protein_id": "ENSP00000590905.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920846.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920848.1",
"protein_id": "ENSP00000590907.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920848.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920849.1",
"protein_id": "ENSP00000590908.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920849.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920851.1",
"protein_id": "ENSP00000590910.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920851.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966039.1",
"protein_id": "ENSP00000636098.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966039.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966040.1",
"protein_id": "ENSP00000636099.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966040.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966041.1",
"protein_id": "ENSP00000636100.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966041.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966042.1",
"protein_id": "ENSP00000636101.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966042.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966043.1",
"protein_id": "ENSP00000636102.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966043.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966045.1",
"protein_id": "ENSP00000636104.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966045.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966046.1",
"protein_id": "ENSP00000636105.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966046.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966047.1",
"protein_id": "ENSP00000636106.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966047.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966048.1",
"protein_id": "ENSP00000636107.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966048.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966049.1",
"protein_id": "ENSP00000636108.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966049.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966050.1",
"protein_id": "ENSP00000636109.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966050.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966051.1",
"protein_id": "ENSP00000636110.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966051.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966052.1",
"protein_id": "ENSP00000636111.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966052.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966053.1",
"protein_id": "ENSP00000636112.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966053.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966054.1",
"protein_id": "ENSP00000636113.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966054.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966055.1",
"protein_id": "ENSP00000636114.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966055.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966056.1",
"protein_id": "ENSP00000636115.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966056.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966057.1",
"protein_id": "ENSP00000636116.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966057.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966058.1",
"protein_id": "ENSP00000636117.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966058.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966059.1",
"protein_id": "ENSP00000636118.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966059.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966060.1",
"protein_id": "ENSP00000636119.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966060.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966061.1",
"protein_id": "ENSP00000636120.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966061.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966062.1",
"protein_id": "ENSP00000636121.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966062.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966063.1",
"protein_id": "ENSP00000636122.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966063.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966064.1",
"protein_id": "ENSP00000636123.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966064.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966065.1",
"protein_id": "ENSP00000636124.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966065.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966066.1",
"protein_id": "ENSP00000636125.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966066.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966067.1",
"protein_id": "ENSP00000636126.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966067.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966068.1",
"protein_id": "ENSP00000636127.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966068.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966069.1",
"protein_id": "ENSP00000636128.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966069.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966070.1",
"protein_id": "ENSP00000636129.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966070.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966071.1",
"protein_id": "ENSP00000636130.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966071.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966072.1",
"protein_id": "ENSP00000636131.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966072.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966073.1",
"protein_id": "ENSP00000636132.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966073.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920841.1",
"protein_id": "ENSP00000590900.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 277,
"cds_start": 413,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920841.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920845.1",
"protein_id": "ENSP00000590904.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 277,
"cds_start": 413,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920845.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920847.1",
"protein_id": "ENSP00000590906.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 277,
"cds_start": 413,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920847.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000920850.1",
"protein_id": "ENSP00000590909.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 277,
"cds_start": 413,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920850.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000966044.1",
"protein_id": "ENSP00000636103.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 277,
"cds_start": 413,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966044.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000884654.1",
"protein_id": "ENSP00000554713.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 177,
"cds_start": 413,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884654.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_006719771.4",
"protein_id": "XP_006719834.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719771.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_006719772.5",
"protein_id": "XP_006719835.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719772.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_011534957.4",
"protein_id": "XP_011533259.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534957.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_011534958.4",
"protein_id": "XP_011533260.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534958.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_011534959.4",
"protein_id": "XP_011533261.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534959.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_011534960.3",
"protein_id": "XP_011533262.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534960.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_011534961.4",
"protein_id": "XP_011533263.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534961.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_011534962.3",
"protein_id": "XP_011533264.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534962.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_011534963.4",
"protein_id": "XP_011533265.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534963.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_017020417.2",
"protein_id": "XP_016875906.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020417.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430126.1",
"protein_id": "XP_047286082.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430126.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430127.1",
"protein_id": "XP_047286083.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430127.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430128.1",
"protein_id": "XP_047286084.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430128.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430129.1",
"protein_id": "XP_047286085.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430129.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430130.1",
"protein_id": "XP_047286086.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430130.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430131.1",
"protein_id": "XP_047286087.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430131.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430132.1",
"protein_id": "XP_047286088.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430132.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430133.1",
"protein_id": "XP_047286089.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430133.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "XM_047430134.1",
"protein_id": "XP_047286090.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 278,
"cds_start": 413,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430134.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.580A>G",
"hgvs_p": null,
"transcript": "ENST00000460973.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460973.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.532A>G",
"hgvs_p": null,
"transcript": "ENST00000461838.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461838.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.673A>G",
"hgvs_p": null,
"transcript": "ENST00000471771.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471771.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.627A>G",
"hgvs_p": null,
"transcript": "ENST00000485650.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485650.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.630A>G",
"hgvs_p": null,
"transcript": "ENST00000485959.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485959.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.584A>G",
"hgvs_p": null,
"transcript": "ENST00000493719.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493719.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.*245A>G",
"hgvs_p": null,
"transcript": "ENST00000464753.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464753.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.*240A>G",
"hgvs_p": null,
"transcript": "ENST00000483903.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"hgvs_c": "n.*170A>G",
"hgvs_p": null,
"transcript": "ENST00000484342.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484342.2"
}
],
"gene_symbol": "MTIF3",
"gene_hgnc_id": 29788,
"dbsnp": "rs140262959",
"frequency_reference_population": 0.009792856,
"hom_count_reference_population": 95,
"allele_count_reference_population": 15808,
"gnomad_exomes_af": 0.0100596,
"gnomad_genomes_af": 0.00723353,
"gnomad_exomes_ac": 14706,
"gnomad_genomes_ac": 1102,
"gnomad_exomes_homalt": 88,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00749167799949646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.0975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.836,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_152912.5",
"gene_symbol": "MTIF3",
"hgnc_id": 29788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}