← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-197051654-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197051654&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197051654,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004087.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "NM_001366207.1",
"protein_id": "NP_001353136.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000667157.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366207.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "ENST00000667157.1",
"protein_id": "ENSP00000499414.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366207.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667157.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "ENST00000346964.6",
"protein_id": "ENSP00000345731.2",
"transcript_support_level": 1,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346964.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "ENST00000419354.5",
"protein_id": "ENSP00000407531.1",
"transcript_support_level": 1,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419354.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "ENST00000448528.6",
"protein_id": "ENSP00000391732.2",
"transcript_support_level": 1,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448528.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "ENST00000357674.9",
"protein_id": "ENSP00000350303.6",
"transcript_support_level": 1,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357674.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "NM_004087.2",
"protein_id": "NP_004078.2",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004087.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "ENST00000887908.1",
"protein_id": "ENSP00000557967.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887908.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "ENST00000918290.1",
"protein_id": "ENSP00000588349.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918290.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "ENST00000918296.1",
"protein_id": "ENSP00000588355.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918296.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "ENST00000948487.1",
"protein_id": "ENSP00000618546.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948487.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "ENST00000948489.1",
"protein_id": "ENSP00000618548.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948489.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2594G>A",
"hgvs_p": "p.Arg865His",
"transcript": "NM_001366214.1",
"protein_id": "NP_001353143.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 925,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366214.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2594G>A",
"hgvs_p": "p.Arg865His",
"transcript": "ENST00000660898.1",
"protein_id": "ENSP00000499363.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 925,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660898.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2594G>A",
"hgvs_p": "p.Arg865His",
"transcript": "ENST00000887910.1",
"protein_id": "ENSP00000557969.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 925,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887910.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2594G>A",
"hgvs_p": "p.Arg865His",
"transcript": "ENST00000918291.1",
"protein_id": "ENSP00000588350.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 925,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918291.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2594G>A",
"hgvs_p": "p.Arg865His",
"transcript": "ENST00000918292.1",
"protein_id": "ENSP00000588351.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 925,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918292.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2555G>A",
"hgvs_p": "p.Arg852His",
"transcript": "ENST00000948486.1",
"protein_id": "ENSP00000618545.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 912,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948486.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2543G>A",
"hgvs_p": "p.Arg848His",
"transcript": "ENST00000948496.1",
"protein_id": "ENSP00000618555.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 908,
"cds_start": 2543,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948496.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "NM_001098424.1",
"protein_id": "NP_001091894.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098424.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "NM_001290983.2",
"protein_id": "NP_001277912.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290983.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "NM_001366218.1",
"protein_id": "NP_001353147.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366218.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "ENST00000670935.1",
"protein_id": "ENSP00000499437.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000670935.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "ENST00000918289.1",
"protein_id": "ENSP00000588348.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918289.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "NM_001363865.1",
"protein_id": "NP_001350794.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363865.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "NM_001366210.1",
"protein_id": "NP_001353139.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366210.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "NM_001366215.1",
"protein_id": "NP_001353144.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366215.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "ENST00000450955.5",
"protein_id": "ENSP00000411278.1",
"transcript_support_level": 5,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450955.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "ENST00000669565.1",
"protein_id": "ENSP00000499413.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000669565.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "ENST00000670455.1",
"protein_id": "ENSP00000499542.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 893,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000670455.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "NM_001204386.1",
"protein_id": "NP_001191315.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204386.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "NM_001366205.1",
"protein_id": "NP_001353134.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366205.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "NM_001366213.1",
"protein_id": "NP_001353142.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366213.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000656944.1",
"protein_id": "ENSP00000499584.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656944.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000657381.1",
"protein_id": "ENSP00000499507.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000657381.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000659221.1",
"protein_id": "ENSP00000499269.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000659221.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000661013.1",
"protein_id": "ENSP00000499440.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000661013.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000887911.1",
"protein_id": "ENSP00000557970.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887911.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000918294.1",
"protein_id": "ENSP00000588353.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918294.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000918297.1",
"protein_id": "ENSP00000588356.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918297.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2495G>A",
"hgvs_p": "p.Arg832His",
"transcript": "ENST00000918298.1",
"protein_id": "ENSP00000588357.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 892,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918298.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2468G>A",
"hgvs_p": "p.Arg823His",
"transcript": "NM_001366211.1",
"protein_id": "NP_001353140.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 883,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366211.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2468G>A",
"hgvs_p": "p.Arg823His",
"transcript": "NM_001366217.1",
"protein_id": "NP_001353146.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 883,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366217.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2468G>A",
"hgvs_p": "p.Arg823His",
"transcript": "ENST00000656087.1",
"protein_id": "ENSP00000499723.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 883,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656087.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2468G>A",
"hgvs_p": "p.Arg823His",
"transcript": "ENST00000662727.1",
"protein_id": "ENSP00000499774.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 883,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000662727.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819His",
"transcript": "ENST00000667971.1",
"protein_id": "ENSP00000499347.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 879,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667971.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2453G>A",
"hgvs_p": "p.Arg818His",
"transcript": "ENST00000658701.1",
"protein_id": "ENSP00000499531.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 878,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000658701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815His",
"transcript": "NM_001366206.1",
"protein_id": "NP_001353135.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 875,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366206.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815His",
"transcript": "ENST00000661336.1",
"protein_id": "ENSP00000499229.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 875,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000661336.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815His",
"transcript": "ENST00000887907.1",
"protein_id": "ENSP00000557966.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 875,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887907.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815His",
"transcript": "ENST00000918293.1",
"protein_id": "ENSP00000588352.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 875,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918293.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815His",
"transcript": "ENST00000918295.1",
"protein_id": "ENSP00000588354.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 875,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918295.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814His",
"transcript": "NM_001366220.1",
"protein_id": "NP_001353149.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 874,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366220.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814His",
"transcript": "ENST00000656428.1",
"protein_id": "ENSP00000499329.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 874,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656428.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814His",
"transcript": "ENST00000887909.1",
"protein_id": "ENSP00000557968.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 874,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887909.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814His",
"transcript": "ENST00000918299.1",
"protein_id": "ENSP00000588358.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 874,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918299.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814His",
"transcript": "ENST00000948493.1",
"protein_id": "ENSP00000618552.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 874,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948493.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814His",
"transcript": "ENST00000948494.1",
"protein_id": "ENSP00000618553.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 874,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948494.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "NM_001366204.1",
"protein_id": "NP_001353133.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366204.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "NM_001366208.1",
"protein_id": "NP_001353137.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366208.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "NM_001366209.1",
"protein_id": "NP_001353138.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366209.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "NM_001366212.1",
"protein_id": "NP_001353141.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366212.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "ENST00000392382.6",
"protein_id": "ENSP00000376187.2",
"transcript_support_level": 5,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392382.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "ENST00000655488.1",
"protein_id": "ENSP00000499657.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000655488.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "ENST00000659716.1",
"protein_id": "ENSP00000499602.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000659716.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "ENST00000661453.1",
"protein_id": "ENSP00000499514.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000661453.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "ENST00000663148.1",
"protein_id": "ENSP00000499384.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000663148.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "ENST00000671185.1",
"protein_id": "ENSP00000499580.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 871,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671185.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Arg808His",
"transcript": "ENST00000664991.1",
"protein_id": "ENSP00000499250.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 868,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664991.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2414G>A",
"hgvs_p": "p.Arg805His",
"transcript": "NM_001366203.1",
"protein_id": "NP_001353132.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 865,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366203.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2414G>A",
"hgvs_p": "p.Arg805His",
"transcript": "ENST00000667104.1",
"protein_id": "ENSP00000499313.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 865,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667104.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2414G>A",
"hgvs_p": "p.Arg805His",
"transcript": "ENST00000948491.1",
"protein_id": "ENSP00000618550.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 865,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948491.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2402G>A",
"hgvs_p": "p.Arg801His",
"transcript": "ENST00000948490.1",
"protein_id": "ENSP00000618549.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 861,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948490.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2399G>A",
"hgvs_p": "p.Arg800His",
"transcript": "ENST00000948495.1",
"protein_id": "ENSP00000618554.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 860,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948495.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "NM_001366216.1",
"protein_id": "NP_001353145.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 853,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366216.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "NM_001366219.1",
"protein_id": "NP_001353148.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 853,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366219.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "ENST00000422288.6",
"protein_id": "ENSP00000413238.1",
"transcript_support_level": 5,
"aa_start": 793,
"aa_end": null,
"aa_length": 853,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422288.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "ENST00000666007.1",
"protein_id": "ENSP00000499793.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 853,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666007.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "ENST00000948483.1",
"protein_id": "ENSP00000618542.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 853,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948483.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2366G>A",
"hgvs_p": "p.Arg789His",
"transcript": "ENST00000918300.1",
"protein_id": "ENSP00000588359.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 849,
"cds_start": 2366,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918300.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2336G>A",
"hgvs_p": "p.Arg779His",
"transcript": "ENST00000654737.1",
"protein_id": "ENSP00000499578.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 839,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654737.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774His",
"transcript": "ENST00000918301.1",
"protein_id": "ENSP00000588360.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 834,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918301.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2318G>A",
"hgvs_p": "p.Arg773His",
"transcript": "NM_001366221.1",
"protein_id": "NP_001353150.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 833,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366221.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2318G>A",
"hgvs_p": "p.Arg773His",
"transcript": "ENST00000653795.1",
"protein_id": "ENSP00000499599.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 833,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653795.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2318G>A",
"hgvs_p": "p.Arg773His",
"transcript": "ENST00000948485.1",
"protein_id": "ENSP00000618544.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 833,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948485.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771His",
"transcript": "ENST00000948488.1",
"protein_id": "ENSP00000618547.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 831,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948488.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2282G>A",
"hgvs_p": "p.Arg761His",
"transcript": "NM_001366222.1",
"protein_id": "NP_001353151.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 821,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366222.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2282G>A",
"hgvs_p": "p.Arg761His",
"transcript": "ENST00000671246.1",
"protein_id": "ENSP00000499692.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 821,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671246.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2279G>A",
"hgvs_p": "p.Arg760His",
"transcript": "ENST00000948492.1",
"protein_id": "ENSP00000618551.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 820,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948492.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"transcript": "ENST00000660553.1",
"protein_id": "ENSP00000499559.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 819,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660553.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2219G>A",
"hgvs_p": "p.Arg740His",
"transcript": "NM_001204387.2",
"protein_id": "NP_001191316.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 800,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204387.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2219G>A",
"hgvs_p": "p.Arg740His",
"transcript": "ENST00000443183.5",
"protein_id": "ENSP00000396658.1",
"transcript_support_level": 2,
"aa_start": 740,
"aa_end": null,
"aa_length": 800,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443183.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2183G>A",
"hgvs_p": "p.Arg728His",
"transcript": "NM_001204388.2",
"protein_id": "NP_001191317.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 788,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204388.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2183G>A",
"hgvs_p": "p.Arg728His",
"transcript": "ENST00000452595.5",
"protein_id": "ENSP00000398939.1",
"transcript_support_level": 2,
"aa_start": 728,
"aa_end": null,
"aa_length": 788,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452595.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727His",
"transcript": "ENST00000654733.1",
"protein_id": "ENSP00000499730.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 771,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654733.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2102G>A",
"hgvs_p": "p.Arg701His",
"transcript": "ENST00000658155.1",
"protein_id": "ENSP00000499257.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 744,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000658155.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Arg491His",
"transcript": "ENST00000436682.6",
"protein_id": "ENSP00000393771.2",
"transcript_support_level": 2,
"aa_start": 491,
"aa_end": null,
"aa_length": 551,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436682.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "XM_005269289.5",
"protein_id": "XP_005269346.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269289.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "XM_017005800.2",
"protein_id": "XP_016861289.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005800.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "XM_017005801.2",
"protein_id": "XP_016861290.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005801.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "XM_017005802.2",
"protein_id": "XP_016861291.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005802.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His",
"transcript": "XM_017005803.2",
"protein_id": "XP_016861292.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 926,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005803.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Arg844His",
"transcript": "XM_011512502.4",
"protein_id": "XP_011510804.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 904,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512502.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815His",
"transcript": "XM_017005811.3",
"protein_id": "XP_016861300.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 875,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005811.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783His",
"transcript": "XM_017005821.3",
"protein_id": "XP_016861310.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 843,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005821.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Arg750His",
"transcript": "XM_017005823.3",
"protein_id": "XP_016861312.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 810,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005823.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.2272G>A",
"hgvs_p": null,
"transcript": "ENST00000469371.5",
"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": "retained_intron",
"feature": "ENST00000469371.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.787G>A",
"hgvs_p": null,
"transcript": "ENST00000475394.5",
"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": "retained_intron",
"feature": "ENST00000475394.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*552G>A",
"hgvs_p": null,
"transcript": "ENST00000653331.1",
"protein_id": "ENSP00000499752.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000653331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.2104G>A",
"hgvs_p": null,
"transcript": "ENST00000653583.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000653583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*516G>A",
"hgvs_p": null,
"transcript": "ENST00000657098.1",
"protein_id": "ENSP00000499247.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000657098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1914G>A",
"hgvs_p": null,
"transcript": "ENST00000660237.1",
"protein_id": "ENSP00000499707.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000660237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*2160G>A",
"hgvs_p": null,
"transcript": "ENST00000660432.1",
"protein_id": "ENSP00000499677.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000660432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*300G>A",
"hgvs_p": null,
"transcript": "ENST00000661229.1",
"protein_id": "ENSP00000499280.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000661229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*2223G>A",
"hgvs_p": null,
"transcript": "ENST00000661440.1",
"protein_id": "ENSP00000499381.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000661440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1602G>A",
"hgvs_p": null,
"transcript": "ENST00000664564.1",
"protein_id": "ENSP00000499320.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000664564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1693G>A",
"hgvs_p": null,
"transcript": "ENST00000665728.1",
"protein_id": "ENSP00000499682.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000665728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.2323G>A",
"hgvs_p": null,
"transcript": "ENST00000668578.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000668578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*552G>A",
"hgvs_p": null,
"transcript": "ENST00000669332.1",
"protein_id": "ENSP00000499499.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000669332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1123G>A",
"hgvs_p": null,
"transcript": "ENST00000669714.1",
"protein_id": "ENSP00000499698.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000669714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1572G>A",
"hgvs_p": null,
"transcript": "ENST00000670366.1",
"protein_id": "ENSP00000499310.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000670366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.3026G>A",
"hgvs_p": null,
"transcript": "NR_158764.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_158764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.3155G>A",
"hgvs_p": null,
"transcript": "NR_158765.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_158765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.2383G>A",
"hgvs_p": null,
"transcript": "NR_158766.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_158766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.2380G>A",
"hgvs_p": null,
"transcript": "NR_158767.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_158767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*552G>A",
"hgvs_p": null,
"transcript": "ENST00000653331.1",
"protein_id": "ENSP00000499752.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000653331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*516G>A",
"hgvs_p": null,
"transcript": "ENST00000657098.1",
"protein_id": "ENSP00000499247.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000657098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1914G>A",
"hgvs_p": null,
"transcript": "ENST00000660237.1",
"protein_id": "ENSP00000499707.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000660237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*2160G>A",
"hgvs_p": null,
"transcript": "ENST00000660432.1",
"protein_id": "ENSP00000499677.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000660432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*300G>A",
"hgvs_p": null,
"transcript": "ENST00000661229.1",
"protein_id": "ENSP00000499280.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000661229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*2223G>A",
"hgvs_p": null,
"transcript": "ENST00000661440.1",
"protein_id": "ENSP00000499381.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000661440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1602G>A",
"hgvs_p": null,
"transcript": "ENST00000664564.1",
"protein_id": "ENSP00000499320.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000664564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1693G>A",
"hgvs_p": null,
"transcript": "ENST00000665728.1",
"protein_id": "ENSP00000499682.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000665728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*552G>A",
"hgvs_p": null,
"transcript": "ENST00000669332.1",
"protein_id": "ENSP00000499499.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000669332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1123G>A",
"hgvs_p": null,
"transcript": "ENST00000669714.1",
"protein_id": "ENSP00000499698.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000669714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.*1572G>A",
"hgvs_p": null,
"transcript": "ENST00000670366.1",
"protein_id": "ENSP00000499310.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000670366.1"
}
],
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"dbsnp": "rs779555154",
"frequency_reference_population": 0.000019223351,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000198523,
"gnomad_genomes_af": 0.0000131721,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4324128031730652,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.482,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6508,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004087.2",
"gene_symbol": "DLG1",
"hgnc_id": 2900,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2597G>A",
"hgvs_p": "p.Arg866His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}