← 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: 19-58244034-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58244034&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58244034,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387410.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_014480.4",
"protein_id": "NP_055295.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000687789.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014480.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000687789.1",
"protein_id": "ENSP00000510489.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014480.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687789.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000269829.5",
"protein_id": "ENSP00000269829.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269829.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000596652.5",
"protein_id": "ENSP00000469635.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596652.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000594384.5",
"protein_id": "ENSP00000472614.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594384.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000596825.5",
"protein_id": "ENSP00000472512.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596825.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000599227.5",
"protein_id": "ENSP00000471480.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599227.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283515",
"gene_hgnc_id": null,
"hgvs_c": "n.11G>T",
"hgvs_p": null,
"transcript": "ENST00000637233.1",
"protein_id": "ENSP00000490395.1",
"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": "ENST00000637233.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001387410.1",
"protein_id": "NP_001374339.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 769,
"cds_start": 173,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387410.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001387413.1",
"protein_id": "NP_001374342.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 769,
"cds_start": 173,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387413.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320767.2",
"protein_id": "NP_001307696.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320767.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320769.2",
"protein_id": "NP_001307698.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320769.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387390.1",
"protein_id": "NP_001374319.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387390.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387391.1",
"protein_id": "NP_001374320.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387391.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387392.1",
"protein_id": "NP_001374321.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387392.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000853338.1",
"protein_id": "ENSP00000523397.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853338.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000853339.1",
"protein_id": "ENSP00000523398.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853339.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000853341.1",
"protein_id": "ENSP00000523400.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853341.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000853343.1",
"protein_id": "ENSP00000523402.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853343.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000914894.1",
"protein_id": "ENSP00000584953.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914894.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000914895.1",
"protein_id": "ENSP00000584954.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914895.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000914898.1",
"protein_id": "ENSP00000584957.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914898.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000942566.1",
"protein_id": "ENSP00000612625.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 715,
"cds_start": 11,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942566.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320770.2",
"protein_id": "NP_001307699.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 687,
"cds_start": 11,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320770.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320771.2",
"protein_id": "NP_001307700.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 687,
"cds_start": 11,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320771.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320773.2",
"protein_id": "NP_001307702.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 687,
"cds_start": 11,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320773.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000600044.5",
"protein_id": "ENSP00000472721.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 687,
"cds_start": 11,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600044.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000600220.5",
"protein_id": "ENSP00000471684.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 687,
"cds_start": 11,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600220.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000853344.1",
"protein_id": "ENSP00000523403.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 687,
"cds_start": 11,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853344.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000942565.1",
"protein_id": "ENSP00000612624.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 687,
"cds_start": 11,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942565.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320774.2",
"protein_id": "NP_001307703.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 480,
"cds_start": 11,
"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": "NM_001320774.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387393.1",
"protein_id": "NP_001374322.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 480,
"cds_start": 11,
"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": "NM_001387393.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000853340.1",
"protein_id": "ENSP00000523399.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 480,
"cds_start": 11,
"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": "ENST00000853340.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000853342.1",
"protein_id": "ENSP00000523401.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 480,
"cds_start": 11,
"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": "ENST00000853342.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000914896.1",
"protein_id": "ENSP00000584955.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 480,
"cds_start": 11,
"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": "ENST00000914896.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000914899.1",
"protein_id": "ENSP00000584958.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 480,
"cds_start": 11,
"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": "ENST00000914899.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001387416.1",
"protein_id": "NP_001374345.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 193,
"cds_start": 173,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387416.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001387417.1",
"protein_id": "NP_001374346.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 183,
"cds_start": 173,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387417.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001320776.2",
"protein_id": "NP_001307705.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 151,
"cds_start": 173,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320776.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387418.1",
"protein_id": "NP_001374347.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 139,
"cds_start": 11,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387418.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387419.1",
"protein_id": "NP_001374348.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 139,
"cds_start": 11,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387419.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000595981.5",
"protein_id": "ENSP00000470843.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 139,
"cds_start": 11,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595981.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001320777.2",
"protein_id": "NP_001307706.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 135,
"cds_start": 173,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320777.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320780.2",
"protein_id": "NP_001307709.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 129,
"cds_start": 11,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320780.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001320781.2",
"protein_id": "NP_001307710.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 129,
"cds_start": 173,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320781.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387394.1",
"protein_id": "NP_001374323.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 129,
"cds_start": 11,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387394.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387395.1",
"protein_id": "NP_001374324.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 129,
"cds_start": 11,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387395.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001387396.1",
"protein_id": "NP_001374325.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 129,
"cds_start": 173,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387396.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001387420.1",
"protein_id": "NP_001374349.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 124,
"cds_start": 173,
"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": "NM_001387420.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387421.1",
"protein_id": "NP_001374350.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 120,
"cds_start": 11,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387421.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000627781.2",
"protein_id": "ENSP00000485736.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 106,
"cds_start": 11,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627781.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000914897.1",
"protein_id": "ENSP00000584956.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 105,
"cds_start": 11,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914897.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320782.3",
"protein_id": "NP_001307711.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320782.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320783.2",
"protein_id": "NP_001307712.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320783.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387397.1",
"protein_id": "NP_001374326.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387397.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387398.1",
"protein_id": "NP_001374327.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387398.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387399.1",
"protein_id": "NP_001374328.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387399.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387400.1",
"protein_id": "NP_001374329.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387400.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387401.1",
"protein_id": "NP_001374330.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387401.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387402.1",
"protein_id": "NP_001374331.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387402.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387403.1",
"protein_id": "NP_001374332.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387403.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000596929.5",
"protein_id": "ENSP00000470645.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 11,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596929.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000597240.5",
"protein_id": "ENSP00000468975.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 96,
"cds_start": 11,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597240.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387422.1",
"protein_id": "NP_001374351.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 93,
"cds_start": 11,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387422.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387423.1",
"protein_id": "NP_001374352.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 88,
"cds_start": 11,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387423.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387424.1",
"protein_id": "NP_001374353.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 88,
"cds_start": 11,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387424.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387425.1",
"protein_id": "NP_001374354.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 88,
"cds_start": 11,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387425.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387426.1",
"protein_id": "NP_001374355.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 83,
"cds_start": 11,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387426.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387427.1",
"protein_id": "NP_001374356.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 83,
"cds_start": 11,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387427.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387428.1",
"protein_id": "NP_001374357.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 83,
"cds_start": 11,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387428.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387429.1",
"protein_id": "NP_001374358.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 82,
"cds_start": 11,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387429.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387431.1",
"protein_id": "NP_001374360.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 82,
"cds_start": 11,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387431.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387432.1",
"protein_id": "NP_001374361.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 82,
"cds_start": 11,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387432.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387433.1",
"protein_id": "NP_001374362.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 82,
"cds_start": 11,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387433.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320785.2",
"protein_id": "NP_001307714.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 81,
"cds_start": 11,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320785.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320786.2",
"protein_id": "NP_001307715.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 81,
"cds_start": 11,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320786.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320787.2",
"protein_id": "NP_001307716.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 81,
"cds_start": 11,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320787.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387407.1",
"protein_id": "NP_001374336.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 81,
"cds_start": 11,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387407.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320788.2",
"protein_id": "NP_001307717.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320788.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320789.2",
"protein_id": "NP_001307718.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320789.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320791.2",
"protein_id": "NP_001307720.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320791.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001320792.2",
"protein_id": "NP_001307721.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320792.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387408.1",
"protein_id": "NP_001374337.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387408.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387409.1",
"protein_id": "NP_001374338.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387409.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000652201.1",
"protein_id": "ENSP00000498814.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 75,
"cds_start": 11,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652201.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387434.1",
"protein_id": "NP_001374363.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 74,
"cds_start": 11,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387434.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387435.1",
"protein_id": "NP_001374364.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 70,
"cds_start": 11,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387435.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "NM_001387436.1",
"protein_id": "NP_001374365.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 51,
"cds_start": 11,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-133G>T",
"hgvs_p": null,
"transcript": "NM_001387415.1",
"protein_id": "NP_001374344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": null,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387415.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-284-2341G>T",
"hgvs_p": null,
"transcript": "ENST00000599953.1",
"protein_id": "ENSP00000469514.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": null,
"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": "ENST00000599953.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "n.270G>T",
"hgvs_p": null,
"transcript": "ENST00000596597.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000596597.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "n.11G>T",
"hgvs_p": null,
"transcript": "ENST00000596677.5",
"protein_id": "ENSP00000471452.1",
"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": "ENST00000596677.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283515",
"gene_hgnc_id": null,
"hgvs_c": "n.11G>T",
"hgvs_p": null,
"transcript": "ENST00000637310.1",
"protein_id": "ENSP00000490586.1",
"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": "ENST00000637310.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "n.67-2341G>T",
"hgvs_p": null,
"transcript": "ENST00000598880.5",
"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": "ENST00000598880.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "n.67-2341G>T",
"hgvs_p": null,
"transcript": "ENST00000600775.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000600775.5"
}
],
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"dbsnp": "rs571507375",
"frequency_reference_population": 0.0000074605614,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000027468,
"gnomad_genomes_af": 0.0000525569,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04983600974082947,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.001,
"revel_prediction": "Benign",
"alphamissense_score": 0.1681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.276,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001387410.1",
"gene_symbol": "ZNF544",
"hgnc_id": 16759,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000637233.1",
"gene_symbol": "ENSG00000283515",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.11G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}