← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-7208554-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7208554&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7208554,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001131023.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001351132.2",
"protein_id": "NP_001338061.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675855.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351132.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000675855.1",
"protein_id": "ENSP00000502374.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001351132.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675855.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000420616.6",
"protein_id": "ENSP00000410159.2",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420616.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "ENST00000266564.7",
"protein_id": "ENSP00000266564.3",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 631,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266564.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000266563.9",
"protein_id": "ENSP00000266563.5",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266563.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448*",
"transcript": "ENST00000412720.6",
"protein_id": "ENSP00000391601.2",
"transcript_support_level": 2,
"aa_start": 448,
"aa_end": null,
"aa_length": 660,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412720.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "NM_001131023.2",
"protein_id": "NP_001124495.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131023.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "ENST00000434354.6",
"protein_id": "ENSP00000407401.2",
"transcript_support_level": 2,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434354.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "ENST00000872555.1",
"protein_id": "ENSP00000542614.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872555.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "ENST00000872576.1",
"protein_id": "ENSP00000542635.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872576.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "ENST00000934627.1",
"protein_id": "ENSP00000604686.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934627.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "ENST00000934630.1",
"protein_id": "ENSP00000604689.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934630.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440*",
"transcript": "ENST00000958671.1",
"protein_id": "ENSP00000628730.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 652,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958671.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435*",
"transcript": "ENST00000872568.1",
"protein_id": "ENSP00000542627.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 647,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872568.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "ENST00000872574.1",
"protein_id": "ENSP00000542633.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 646,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872574.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "ENST00000934619.1",
"protein_id": "ENSP00000604678.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 646,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934619.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431*",
"transcript": "ENST00000872566.1",
"protein_id": "ENSP00000542625.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 643,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872566.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001131025.2",
"protein_id": "NP_001124497.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131025.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001131026.2",
"protein_id": "NP_001124498.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131026.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001300789.3",
"protein_id": "NP_001287718.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300789.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001351131.2",
"protein_id": "NP_001338060.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351131.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001351133.2",
"protein_id": "NP_001338062.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351133.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001351134.2",
"protein_id": "NP_001338063.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351134.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001374647.2",
"protein_id": "NP_001361576.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374647.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000455147.6",
"protein_id": "ENSP00000400647.2",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455147.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000872554.1",
"protein_id": "ENSP00000542613.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872554.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000872560.1",
"protein_id": "ENSP00000542619.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872560.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000934621.1",
"protein_id": "ENSP00000604680.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934621.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000934628.1",
"protein_id": "ENSP00000604687.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934628.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "ENST00000934634.1",
"protein_id": "ENSP00000604693.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934634.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_001351136.2",
"protein_id": "NP_001338065.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 636,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351136.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000872569.1",
"protein_id": "ENSP00000542628.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 636,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872569.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "ENST00000872567.1",
"protein_id": "ENSP00000542626.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 632,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872567.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "ENST00000934639.1",
"protein_id": "ENSP00000604698.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 632,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934639.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "ENST00000958672.1",
"protein_id": "ENSP00000628731.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 632,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958672.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_000319.5",
"protein_id": "NP_000310.2",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 631,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000319.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "ENST00000872553.1",
"protein_id": "ENSP00000542612.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 631,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872553.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "ENST00000872564.1",
"protein_id": "ENSP00000542623.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 631,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872564.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "ENST00000872578.1",
"protein_id": "ENSP00000542637.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 631,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872578.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417*",
"transcript": "ENST00000872570.1",
"protein_id": "ENSP00000542629.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 629,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872570.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417*",
"transcript": "ENST00000934624.1",
"protein_id": "ENSP00000604683.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 629,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934624.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417*",
"transcript": "ENST00000934637.1",
"protein_id": "ENSP00000604696.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 629,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934637.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1222C>T",
"hgvs_p": "p.Arg408*",
"transcript": "ENST00000872573.1",
"protein_id": "ENSP00000542632.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 620,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872573.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "NM_001351135.3",
"protein_id": "NP_001338064.2",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351135.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "NM_001351138.2",
"protein_id": "NP_001338067.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351138.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "ENST00000872559.1",
"protein_id": "ENSP00000542618.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872559.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "ENST00000872562.1",
"protein_id": "ENSP00000542621.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872562.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "ENST00000872575.1",
"protein_id": "ENSP00000542634.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872575.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "ENST00000934622.1",
"protein_id": "ENSP00000604681.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934622.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "ENST00000958667.1",
"protein_id": "ENSP00000628726.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958667.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "ENST00000958670.1",
"protein_id": "ENSP00000628729.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 617,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958670.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397*",
"transcript": "ENST00000872571.1",
"protein_id": "ENSP00000542630.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 609,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872571.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397*",
"transcript": "ENST00000934638.1",
"protein_id": "ENSP00000604697.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 609,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934638.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395*",
"transcript": "ENST00000934631.1",
"protein_id": "ENSP00000604690.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 607,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934631.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001131024.2",
"protein_id": "NP_001124496.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131024.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001351124.3",
"protein_id": "NP_001338053.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351124.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001351126.2",
"protein_id": "NP_001338055.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351126.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001351127.2",
"protein_id": "NP_001338056.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351127.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001351128.2",
"protein_id": "NP_001338057.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351128.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001351130.3",
"protein_id": "NP_001338059.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351130.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001351137.3",
"protein_id": "NP_001338066.2",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351137.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001374645.1",
"protein_id": "NP_001361574.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374645.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001374646.1",
"protein_id": "NP_001361575.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374646.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001374648.2",
"protein_id": "NP_001361577.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374648.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000872556.1",
"protein_id": "ENSP00000542615.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872556.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000872557.1",
"protein_id": "ENSP00000542616.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872557.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000872558.1",
"protein_id": "ENSP00000542617.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872558.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000872565.1",
"protein_id": "ENSP00000542624.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872565.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000872572.1",
"protein_id": "ENSP00000542631.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872572.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000872577.1",
"protein_id": "ENSP00000542636.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872577.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000934620.1",
"protein_id": "ENSP00000604679.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934620.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000934623.1",
"protein_id": "ENSP00000604682.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934623.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000934625.1",
"protein_id": "ENSP00000604684.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 602,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934625.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387*",
"transcript": "ENST00000958668.1",
"protein_id": "ENSP00000628727.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 599,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958668.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "NM_001351139.2",
"protein_id": "NP_001338068.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 594,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351139.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "NM_001351140.2",
"protein_id": "NP_001338069.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 594,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351140.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "NM_001374649.2",
"protein_id": "NP_001361578.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 594,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374649.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "ENST00000872561.1",
"protein_id": "ENSP00000542620.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 594,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872561.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "ENST00000872563.1",
"protein_id": "ENSP00000542622.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 594,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872563.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "ENST00000934629.1",
"protein_id": "ENSP00000604688.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 594,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934629.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"transcript": "ENST00000934635.1",
"protein_id": "ENSP00000604694.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 592,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934635.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371*",
"transcript": "ENST00000934636.1",
"protein_id": "ENSP00000604695.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 583,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934636.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361*",
"transcript": "ENST00000934633.1",
"protein_id": "ENSP00000604692.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 573,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934633.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353*",
"transcript": "ENST00000934632.1",
"protein_id": "ENSP00000604691.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 565,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934632.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349*",
"transcript": "ENST00000934626.1",
"protein_id": "ENSP00000604685.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 561,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934626.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311*",
"transcript": "ENST00000958669.1",
"protein_id": "ENSP00000628728.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 523,
"cds_start": 931,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958669.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397*",
"transcript": "ENST00000396637.7",
"protein_id": "ENSP00000379877.3",
"transcript_support_level": 5,
"aa_start": 397,
"aa_end": null,
"aa_length": 409,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396637.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463*",
"transcript": "XM_011520793.3",
"protein_id": "XP_011519095.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 675,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520793.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463*",
"transcript": "XM_047429257.1",
"protein_id": "XP_047285213.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 675,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429257.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455*",
"transcript": "XM_047429258.1",
"protein_id": "XP_047285214.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 667,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429258.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448*",
"transcript": "XM_047429259.1",
"protein_id": "XP_047285215.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 660,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429259.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "XM_011520795.2",
"protein_id": "XP_011519097.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520795.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "XM_017019748.2",
"protein_id": "XP_016875237.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019748.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "XM_047429260.1",
"protein_id": "XP_047285216.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429260.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"transcript": "XM_047429262.1",
"protein_id": "XP_047285218.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 654,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429262.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440*",
"transcript": "XM_047429263.1",
"protein_id": "XP_047285219.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 652,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429263.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "XM_047429264.1",
"protein_id": "XP_047285220.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 646,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429264.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "XM_047429265.1",
"protein_id": "XP_047285221.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 639,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429265.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "XM_047429266.1",
"protein_id": "XP_047285222.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 632,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429266.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "XM_047429267.1",
"protein_id": "XP_047285223.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 631,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429267.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "XM_047429268.1",
"protein_id": "XP_047285224.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 615,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429268.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397*",
"transcript": "XM_047429269.1",
"protein_id": "XP_047285225.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 609,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429269.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "XM_047429270.1",
"protein_id": "XP_047285226.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 594,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "n.1635C>T",
"hgvs_p": null,
"transcript": "XR_007063107.1",
"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": "XR_007063107.1"
}
],
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"dbsnp": "rs61752137",
"frequency_reference_population": 0.000013631238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.000012998,
"gnomad_genomes_af": 0.0000197135,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5299999713897705,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.743,
"phylop100way_prediction": "Benign",
"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": 22,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 22,
"benign_score": 0,
"pathogenic_score": 22,
"criteria": [
"PVS1",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001131023.2",
"gene_symbol": "PEX5",
"hgnc_id": 9719,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*"
}
],
"clinvar_disease": "Peroxisome biogenesis disorder 2A (Zellweger),Peroxisome biogenesis disorder 2B,Rhizomelic chondrodysplasia punctata type 5,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Peroxisome biogenesis disorder 2A (Zellweger)|not provided|Peroxisome biogenesis disorder 2B|Peroxisome biogenesis disorder 2A (Zellweger);Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata type 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}