← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-57255016-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57255016&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57255016,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001351204.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "NM_001394031.1",
"protein_id": "NP_001380960.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402412.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394031.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000402412.6",
"protein_id": "ENSP00000385839.1",
"transcript_support_level": 1,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394031.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402412.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2688G>C",
"hgvs_p": "p.Lys896Asn",
"transcript": "ENST00000347140.7",
"protein_id": "ENSP00000317903.6",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 976,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347140.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "n.2524G>C",
"hgvs_p": null,
"transcript": "ENST00000393811.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000393811.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258830",
"gene_hgnc_id": null,
"hgvs_c": "n.*1682+974G>C",
"hgvs_p": null,
"transcript": "ENST00000548184.1",
"protein_id": "ENSP00000477227.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000548184.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2886G>C",
"hgvs_p": "p.Lys962Asn",
"transcript": "NM_001351204.2",
"protein_id": "NP_001338133.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2886,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351204.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2886G>C",
"hgvs_p": "p.Lys962Asn",
"transcript": "NM_001351205.2",
"protein_id": "NP_001338134.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2886,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351205.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2886G>C",
"hgvs_p": "p.Lys962Asn",
"transcript": "NM_001351206.2",
"protein_id": "NP_001338135.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2886,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351206.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2856G>C",
"hgvs_p": "p.Lys952Asn",
"transcript": "NM_001351207.2",
"protein_id": "NP_001338136.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2856,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351207.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Lys944Asn",
"transcript": "NM_001351208.2",
"protein_id": "NP_001338137.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2832,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351208.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2826G>C",
"hgvs_p": "p.Lys942Asn",
"transcript": "ENST00000945082.1",
"protein_id": "ENSP00000615141.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2826,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945082.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2790G>C",
"hgvs_p": "p.Lys930Asn",
"transcript": "NM_001330121.2",
"protein_id": "NP_001317050.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330121.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2790G>C",
"hgvs_p": "p.Lys930Asn",
"transcript": "NM_001330122.2",
"protein_id": "NP_001317051.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330122.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2790G>C",
"hgvs_p": "p.Lys930Asn",
"transcript": "ENST00000403821.6",
"protein_id": "ENSP00000385169.2",
"transcript_support_level": 5,
"aa_start": 930,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403821.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2784G>C",
"hgvs_p": "p.Lys928Asn",
"transcript": "NM_001351209.2",
"protein_id": "NP_001338138.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2784,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351209.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2784G>C",
"hgvs_p": "p.Lys928Asn",
"transcript": "ENST00000878714.1",
"protein_id": "ENSP00000548773.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2784,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878714.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2784G>C",
"hgvs_p": "p.Lys928Asn",
"transcript": "ENST00000878715.1",
"protein_id": "ENSP00000548774.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2784,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878715.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2784G>C",
"hgvs_p": "p.Lys928Asn",
"transcript": "ENST00000878717.1",
"protein_id": "ENSP00000548776.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2784,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878717.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2754G>C",
"hgvs_p": "p.Lys918Asn",
"transcript": "NM_001351211.2",
"protein_id": "NP_001338140.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 998,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351211.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2754G>C",
"hgvs_p": "p.Lys918Asn",
"transcript": "ENST00000878710.1",
"protein_id": "ENSP00000548769.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 998,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878710.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2754G>C",
"hgvs_p": "p.Lys918Asn",
"transcript": "ENST00000878711.1",
"protein_id": "ENSP00000548770.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 998,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878711.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2754G>C",
"hgvs_p": "p.Lys918Asn",
"transcript": "ENST00000945076.1",
"protein_id": "ENSP00000615135.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 998,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945076.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2754G>C",
"hgvs_p": "p.Lys918Asn",
"transcript": "ENST00000945078.1",
"protein_id": "ENSP00000615137.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 998,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945078.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2748G>C",
"hgvs_p": "p.Lys916Asn",
"transcript": "ENST00000945077.1",
"protein_id": "ENSP00000615136.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 996,
"cds_start": 2748,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945077.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2736G>C",
"hgvs_p": "p.Lys912Asn",
"transcript": "NM_001351212.2",
"protein_id": "NP_001338141.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 992,
"cds_start": 2736,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351212.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2736G>C",
"hgvs_p": "p.Lys912Asn",
"transcript": "NM_001351213.2",
"protein_id": "NP_001338142.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 992,
"cds_start": 2736,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351213.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2736G>C",
"hgvs_p": "p.Lys912Asn",
"transcript": "NM_001351214.2",
"protein_id": "NP_001338143.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 992,
"cds_start": 2736,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351214.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2736G>C",
"hgvs_p": "p.Lys912Asn",
"transcript": "NM_001351215.2",
"protein_id": "NP_001338144.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 992,
"cds_start": 2736,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351215.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000878709.1",
"protein_id": "ENSP00000548768.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878709.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000938446.1",
"protein_id": "ENSP00000608505.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938446.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000938447.1",
"protein_id": "ENSP00000608506.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938447.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000938448.1",
"protein_id": "ENSP00000608507.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938448.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000945075.1",
"protein_id": "ENSP00000615134.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945075.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000945081.1",
"protein_id": "ENSP00000615139.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945081.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000945084.1",
"protein_id": "ENSP00000615143.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945084.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "ENST00000945085.1",
"protein_id": "ENSP00000615144.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945085.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2724G>C",
"hgvs_p": "p.Lys908Asn",
"transcript": "NM_001351216.2",
"protein_id": "NP_001338145.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 988,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351216.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2724G>C",
"hgvs_p": "p.Lys908Asn",
"transcript": "ENST00000878716.1",
"protein_id": "ENSP00000548775.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 988,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878716.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2724G>C",
"hgvs_p": "p.Lys908Asn",
"transcript": "ENST00000938444.1",
"protein_id": "ENSP00000608503.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 988,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938444.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2724G>C",
"hgvs_p": "p.Lys908Asn",
"transcript": "ENST00000938445.1",
"protein_id": "ENSP00000608504.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 988,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938445.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2688G>C",
"hgvs_p": "p.Lys896Asn",
"transcript": "NM_014925.5",
"protein_id": "NP_055740.3",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 976,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014925.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2688G>C",
"hgvs_p": "p.Lys896Asn",
"transcript": "ENST00000358907.6",
"protein_id": "ENSP00000351784.2",
"transcript_support_level": 5,
"aa_start": 896,
"aa_end": null,
"aa_length": 976,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358907.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2670G>C",
"hgvs_p": "p.Lys890Asn",
"transcript": "ENST00000878712.1",
"protein_id": "ENSP00000548771.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 970,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878712.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2658G>C",
"hgvs_p": "p.Lys886Asn",
"transcript": "NM_001330123.2",
"protein_id": "NP_001317052.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 966,
"cds_start": 2658,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330123.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2658G>C",
"hgvs_p": "p.Lys886Asn",
"transcript": "ENST00000634871.1",
"protein_id": "ENSP00000489424.1",
"transcript_support_level": 5,
"aa_start": 886,
"aa_end": null,
"aa_length": 966,
"cds_start": 2658,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634871.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2634G>C",
"hgvs_p": "p.Lys878Asn",
"transcript": "NM_001351217.2",
"protein_id": "NP_001338146.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 958,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351217.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2634G>C",
"hgvs_p": "p.Lys878Asn",
"transcript": "NM_001351218.2",
"protein_id": "NP_001338147.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 958,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351218.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2589G>C",
"hgvs_p": "p.Lys863Asn",
"transcript": "ENST00000878713.1",
"protein_id": "ENSP00000548772.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 943,
"cds_start": 2589,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878713.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2544G>C",
"hgvs_p": "p.Lys848Asn",
"transcript": "ENST00000945080.1",
"protein_id": "ENSP00000615138.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 928,
"cds_start": 2544,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945080.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1983G>C",
"hgvs_p": "p.Lys661Asn",
"transcript": "ENST00000429355.6",
"protein_id": "ENSP00000394676.2",
"transcript_support_level": 5,
"aa_start": 661,
"aa_end": null,
"aa_length": 741,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429355.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1773G>C",
"hgvs_p": "p.Lys591Asn",
"transcript": "ENST00000441731.6",
"protein_id": "ENSP00000408536.2",
"transcript_support_level": 5,
"aa_start": 591,
"aa_end": null,
"aa_length": 671,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441731.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.3057G>C",
"hgvs_p": "p.Lys1019Asn",
"transcript": "XM_047428506.1",
"protein_id": "XP_047284462.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3057,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428506.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.3006G>C",
"hgvs_p": "p.Lys1002Asn",
"transcript": "XM_047428507.1",
"protein_id": "XP_047284463.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428507.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2955G>C",
"hgvs_p": "p.Lys985Asn",
"transcript": "XM_047428508.1",
"protein_id": "XP_047284464.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428508.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2931G>C",
"hgvs_p": "p.Lys977Asn",
"transcript": "XM_047428509.1",
"protein_id": "XP_047284465.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428509.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Lys970Asn",
"transcript": "XM_047428510.1",
"protein_id": "XP_047284466.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428510.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Lys970Asn",
"transcript": "XM_047428511.1",
"protein_id": "XP_047284467.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428511.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Lys970Asn",
"transcript": "XM_047428512.1",
"protein_id": "XP_047284468.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428512.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Lys970Asn",
"transcript": "XM_047428513.1",
"protein_id": "XP_047284469.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428513.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Lys970Asn",
"transcript": "XM_047428514.1",
"protein_id": "XP_047284470.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428514.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Lys970Asn",
"transcript": "XM_047428515.1",
"protein_id": "XP_047284471.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428515.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2901G>C",
"hgvs_p": "p.Lys967Asn",
"transcript": "XM_047428516.1",
"protein_id": "XP_047284472.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2901,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428516.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2886G>C",
"hgvs_p": "p.Lys962Asn",
"transcript": "XM_047428517.1",
"protein_id": "XP_047284473.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2886,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428517.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2877G>C",
"hgvs_p": "p.Lys959Asn",
"transcript": "XM_047428518.1",
"protein_id": "XP_047284474.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2877,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428518.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2871G>C",
"hgvs_p": "p.Lys957Asn",
"transcript": "XM_024448885.2",
"protein_id": "XP_024304653.2",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2871,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448885.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2859G>C",
"hgvs_p": "p.Lys953Asn",
"transcript": "XM_017019009.2",
"protein_id": "XP_016874498.2",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2859,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019009.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2856G>C",
"hgvs_p": "p.Lys952Asn",
"transcript": "XM_047428519.1",
"protein_id": "XP_047284475.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2856,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428519.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2841G>C",
"hgvs_p": "p.Lys947Asn",
"transcript": "XM_017019012.2",
"protein_id": "XP_016874501.2",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019012.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2835G>C",
"hgvs_p": "p.Lys945Asn",
"transcript": "XM_047428520.1",
"protein_id": "XP_047284476.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2835,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428520.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Lys944Asn",
"transcript": "XM_047428521.1",
"protein_id": "XP_047284477.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2832,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428521.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2817G>C",
"hgvs_p": "p.Lys939Asn",
"transcript": "XM_047428522.1",
"protein_id": "XP_047284478.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2817,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428522.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2808G>C",
"hgvs_p": "p.Lys936Asn",
"transcript": "XM_047428523.1",
"protein_id": "XP_047284479.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428523.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2805G>C",
"hgvs_p": "p.Lys935Asn",
"transcript": "XM_047428524.1",
"protein_id": "XP_047284480.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2805,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428524.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2784G>C",
"hgvs_p": "p.Lys928Asn",
"transcript": "XM_047428525.1",
"protein_id": "XP_047284481.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2784,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428525.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2781G>C",
"hgvs_p": "p.Lys927Asn",
"transcript": "XM_047428526.1",
"protein_id": "XP_047284482.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2781,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428526.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2754G>C",
"hgvs_p": "p.Lys918Asn",
"transcript": "XM_047428527.1",
"protein_id": "XP_047284483.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 998,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428527.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2745G>C",
"hgvs_p": "p.Lys915Asn",
"transcript": "XM_017019020.2",
"protein_id": "XP_016874509.2",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 995,
"cds_start": 2745,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019020.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "XM_047428528.1",
"protein_id": "XP_047284484.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428528.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Lys910Asn",
"transcript": "XM_047428529.1",
"protein_id": "XP_047284485.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 990,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428529.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2727G>C",
"hgvs_p": "p.Lys909Asn",
"transcript": "XM_047428530.1",
"protein_id": "XP_047284486.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 989,
"cds_start": 2727,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428530.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2670G>C",
"hgvs_p": "p.Lys890Asn",
"transcript": "XM_047428532.1",
"protein_id": "XP_047284488.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 970,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428532.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2634G>C",
"hgvs_p": "p.Lys878Asn",
"transcript": "XM_047428533.1",
"protein_id": "XP_047284489.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 958,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428533.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2574G>C",
"hgvs_p": "p.Lys858Asn",
"transcript": "XM_047428534.1",
"protein_id": "XP_047284490.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 938,
"cds_start": 2574,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428534.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1971G>C",
"hgvs_p": "p.Lys657Asn",
"transcript": "XM_047428535.1",
"protein_id": "XP_047284491.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 737,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428535.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1671G>C",
"hgvs_p": "p.Lys557Asn",
"transcript": "XM_047428536.1",
"protein_id": "XP_047284492.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 637,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428536.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295078",
"gene_hgnc_id": null,
"hgvs_c": "n.808+14801C>G",
"hgvs_p": null,
"transcript": "ENST00000727836.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727836.1"
}
],
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"dbsnp": "rs1188128428",
"frequency_reference_population": 0.0000030985923,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273664,
"gnomad_genomes_af": 0.00000657947,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3118423819541931,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.9724,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.011,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001351204.2",
"gene_symbol": "R3HDM2",
"hgnc_id": 29167,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2886G>C",
"hgvs_p": "p.Lys962Asn"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548184.1",
"gene_symbol": "ENSG00000258830",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1682+974G>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000727836.1",
"gene_symbol": "ENSG00000295078",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.808+14801C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}