← 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: 18-74508848-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=74508848&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 74508848,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018235.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_018235.3",
"protein_id": "NP_060705.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324262.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018235.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000324262.9",
"protein_id": "ENSP00000325548.4",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018235.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324262.9"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000584768.5",
"protein_id": "ENSP00000482227.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 157,
"cds_start": 376,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584768.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000324301.12",
"protein_id": "ENSP00000325756.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324301.12"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Tyr165His",
"transcript": "ENST00000880651.1",
"protein_id": "ENSP00000550710.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 514,
"cds_start": 493,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880651.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.409T>C",
"hgvs_p": "p.Tyr137His",
"transcript": "ENST00000969808.1",
"protein_id": "ENSP00000639867.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 486,
"cds_start": 409,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969808.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Tyr136His",
"transcript": "ENST00000880665.1",
"protein_id": "ENSP00000550724.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 485,
"cds_start": 406,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880665.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.403T>C",
"hgvs_p": "p.Tyr135His",
"transcript": "ENST00000880668.1",
"protein_id": "ENSP00000550727.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 484,
"cds_start": 403,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880668.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.403T>C",
"hgvs_p": "p.Tyr135His",
"transcript": "ENST00000921561.1",
"protein_id": "ENSP00000591620.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 484,
"cds_start": 403,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921561.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.403T>C",
"hgvs_p": "p.Tyr135His",
"transcript": "ENST00000969810.1",
"protein_id": "ENSP00000639869.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 484,
"cds_start": 403,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969810.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880643.1",
"protein_id": "ENSP00000550702.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 480,
"cds_start": 376,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880643.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880659.1",
"protein_id": "ENSP00000550718.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 480,
"cds_start": 376,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880659.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_001370248.1",
"protein_id": "NP_001357177.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370248.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_001370249.1",
"protein_id": "NP_001357178.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370249.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_001370250.1",
"protein_id": "NP_001357179.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370250.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000579847.5",
"protein_id": "ENSP00000462311.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579847.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880639.1",
"protein_id": "ENSP00000550698.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880639.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880640.1",
"protein_id": "ENSP00000550699.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880640.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880641.1",
"protein_id": "ENSP00000550700.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880641.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880644.1",
"protein_id": "ENSP00000550703.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880644.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880645.1",
"protein_id": "ENSP00000550704.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880645.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880646.1",
"protein_id": "ENSP00000550705.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880646.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880647.1",
"protein_id": "ENSP00000550706.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880647.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880648.1",
"protein_id": "ENSP00000550707.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880648.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880649.1",
"protein_id": "ENSP00000550708.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880649.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880650.1",
"protein_id": "ENSP00000550709.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880650.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880652.1",
"protein_id": "ENSP00000550711.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880652.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880653.1",
"protein_id": "ENSP00000550712.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880653.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880654.1",
"protein_id": "ENSP00000550713.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880654.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880657.1",
"protein_id": "ENSP00000550716.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880657.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880658.1",
"protein_id": "ENSP00000550717.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880658.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880660.1",
"protein_id": "ENSP00000550719.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880660.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880662.1",
"protein_id": "ENSP00000550721.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880662.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880663.1",
"protein_id": "ENSP00000550722.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880663.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880664.1",
"protein_id": "ENSP00000550723.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880664.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880667.1",
"protein_id": "ENSP00000550726.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880667.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880669.1",
"protein_id": "ENSP00000550728.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880669.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880672.1",
"protein_id": "ENSP00000550731.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880672.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880674.1",
"protein_id": "ENSP00000550733.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880674.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880675.1",
"protein_id": "ENSP00000550734.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880675.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880676.1",
"protein_id": "ENSP00000550735.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880676.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880677.1",
"protein_id": "ENSP00000550736.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880677.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880678.1",
"protein_id": "ENSP00000550737.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880678.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880679.1",
"protein_id": "ENSP00000550738.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880679.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880680.1",
"protein_id": "ENSP00000550739.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880680.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880681.1",
"protein_id": "ENSP00000550740.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880681.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880682.1",
"protein_id": "ENSP00000550741.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880682.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880683.1",
"protein_id": "ENSP00000550742.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880683.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880684.1",
"protein_id": "ENSP00000550743.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880684.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880685.1",
"protein_id": "ENSP00000550744.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880685.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880686.1",
"protein_id": "ENSP00000550745.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880686.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880687.1",
"protein_id": "ENSP00000550746.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880687.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880688.1",
"protein_id": "ENSP00000550747.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880688.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880689.1",
"protein_id": "ENSP00000550748.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880689.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880691.1",
"protein_id": "ENSP00000550750.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880691.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921557.1",
"protein_id": "ENSP00000591616.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921557.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921569.1",
"protein_id": "ENSP00000591628.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921569.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921576.1",
"protein_id": "ENSP00000591635.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921576.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969806.1",
"protein_id": "ENSP00000639865.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969806.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969807.1",
"protein_id": "ENSP00000639866.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969807.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969811.1",
"protein_id": "ENSP00000639870.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969811.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969812.1",
"protein_id": "ENSP00000639871.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969812.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969813.1",
"protein_id": "ENSP00000639872.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969813.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969814.1",
"protein_id": "ENSP00000639873.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969814.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969815.1",
"protein_id": "ENSP00000639874.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969815.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969816.1",
"protein_id": "ENSP00000639875.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969816.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969817.1",
"protein_id": "ENSP00000639876.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969817.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880656.1",
"protein_id": "ENSP00000550715.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880656.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880670.1",
"protein_id": "ENSP00000550729.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880670.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000969818.1",
"protein_id": "ENSP00000639877.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969818.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000880655.1",
"protein_id": "ENSP00000550714.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 466,
"cds_start": 349,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880655.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000921570.1",
"protein_id": "ENSP00000591629.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 466,
"cds_start": 349,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921570.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.232T>C",
"hgvs_p": "p.Tyr78His",
"transcript": "ENST00000921558.1",
"protein_id": "ENSP00000591617.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 427,
"cds_start": 232,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921558.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880666.1",
"protein_id": "ENSP00000550725.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 420,
"cds_start": 376,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880666.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921559.1",
"protein_id": "ENSP00000591618.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 420,
"cds_start": 376,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921559.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921567.1",
"protein_id": "ENSP00000591626.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 420,
"cds_start": 376,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921567.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921564.1",
"protein_id": "ENSP00000591623.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 408,
"cds_start": 376,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921564.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921565.1",
"protein_id": "ENSP00000591624.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 408,
"cds_start": 376,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921565.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000880642.1",
"protein_id": "ENSP00000550701.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 381,
"cds_start": 376,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880642.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921566.1",
"protein_id": "ENSP00000591625.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 326,
"cds_start": 376,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921566.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921572.1",
"protein_id": "ENSP00000591631.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 326,
"cds_start": 376,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921572.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921573.1",
"protein_id": "ENSP00000591632.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 319,
"cds_start": 376,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921573.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000921574.1",
"protein_id": "ENSP00000591633.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 271,
"cds_start": 376,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921574.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000583785.5",
"protein_id": "ENSP00000463222.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 248,
"cds_start": 376,
"cds_end": null,
"cds_length": 749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583785.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.322T>C",
"hgvs_p": "p.Tyr108His",
"transcript": "ENST00000580672.5",
"protein_id": "ENSP00000464214.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 203,
"cds_start": 322,
"cds_end": null,
"cds_length": 613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580672.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000583216.5",
"protein_id": "ENSP00000462673.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 148,
"cds_start": 376,
"cds_end": null,
"cds_length": 448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583216.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000581272.5",
"protein_id": "ENSP00000464151.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 133,
"cds_start": 376,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581272.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000582589.5",
"protein_id": "ENSP00000463182.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 127,
"cds_start": 376,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582589.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Tyr87His",
"transcript": "ENST00000577355.2",
"protein_id": "ENSP00000479635.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 124,
"cds_start": 259,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577355.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Tyr83His",
"transcript": "ENST00000582666.5",
"protein_id": "ENSP00000461941.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 87,
"cds_start": 247,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582666.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "XM_047437623.1",
"protein_id": "XP_047293579.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437623.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "XM_047437624.1",
"protein_id": "XP_047293580.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.-562T>C",
"hgvs_p": null,
"transcript": "NM_001370254.1",
"protein_id": "NP_001357183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "NM_001168499.2",
"protein_id": "NP_001161971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168499.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000880661.1",
"protein_id": "ENSP00000550720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000880671.1",
"protein_id": "ENSP00000550730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000880673.1",
"protein_id": "ENSP00000550732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000880690.1",
"protein_id": "ENSP00000550749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000921571.1",
"protein_id": "ENSP00000591630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000921577.1",
"protein_id": "ENSP00000591636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.367+2837T>C",
"hgvs_p": null,
"transcript": "ENST00000969809.1",
"protein_id": "ENSP00000639868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-3600T>C",
"hgvs_p": null,
"transcript": "ENST00000880692.1",
"protein_id": "ENSP00000550751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-3600T>C",
"hgvs_p": null,
"transcript": "ENST00000921562.1",
"protein_id": "ENSP00000591621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921562.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.367+2837T>C",
"hgvs_p": null,
"transcript": "ENST00000921575.1",
"protein_id": "ENSP00000591634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.204+7376T>C",
"hgvs_p": null,
"transcript": "ENST00000921568.1",
"protein_id": "ENSP00000591627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.204+7376T>C",
"hgvs_p": null,
"transcript": "ENST00000921560.1",
"protein_id": "ENSP00000591619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.204+7376T>C",
"hgvs_p": null,
"transcript": "ENST00000921563.1",
"protein_id": "ENSP00000591622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000579583.5",
"protein_id": "ENSP00000464122.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579583.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.*243T>C",
"hgvs_p": null,
"transcript": "ENST00000582260.5",
"protein_id": "ENSP00000464319.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000582260.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.4T>C",
"hgvs_p": null,
"transcript": "ENST00000584581.5",
"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": "ENST00000584581.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.1782T>C",
"hgvs_p": null,
"transcript": "ENST00000585263.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000585263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.*243T>C",
"hgvs_p": null,
"transcript": "ENST00000582260.5",
"protein_id": "ENSP00000464319.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000582260.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.412+2837T>C",
"hgvs_p": null,
"transcript": "ENST00000582620.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000582620.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.*5T>C",
"hgvs_p": null,
"transcript": "ENST00000581513.5",
"protein_id": "ENSP00000463702.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581513.5"
}
],
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"dbsnp": "rs2278161",
"frequency_reference_population": 0.22740035,
"hom_count_reference_population": 43585,
"allele_count_reference_population": 366719,
"gnomad_exomes_af": 0.230567,
"gnomad_genomes_af": 0.196976,
"gnomad_exomes_ac": 336772,
"gnomad_genomes_ac": 29947,
"gnomad_exomes_homalt": 40297,
"gnomad_genomes_homalt": 3288,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002690345048904419,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.437,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.458,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.653,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018235.3",
"gene_symbol": "CNDP2",
"hgnc_id": 24437,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}