← 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: 7-869511-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=869511&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 869511,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000401592.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Ile",
"transcript": "NM_001130965.3",
"protein_id": "NP_001124437.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 785,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "ENST00000401592.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Ile",
"transcript": "ENST00000401592.6",
"protein_id": "ENSP00000384015.1",
"transcript_support_level": 1,
"aa_start": 715,
"aa_end": null,
"aa_length": 785,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "NM_001130965.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Val640Ile",
"transcript": "ENST00000429178.5",
"protein_id": "ENSP00000409909.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 710,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2252G>A",
"hgvs_p": null,
"transcript": "ENST00000475971.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2557G>A",
"hgvs_p": "p.Val853Ile",
"transcript": "NM_001367651.1",
"protein_id": "NP_001354580.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 923,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2536G>A",
"hgvs_p": "p.Val846Ile",
"transcript": "NM_001367705.1",
"protein_id": "NP_001354634.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 916,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2533G>A",
"hgvs_p": "p.Val845Ile",
"transcript": "NM_001367678.1",
"protein_id": "NP_001354607.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 915,
"cds_start": 2533,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2584,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2452G>A",
"hgvs_p": "p.Val818Ile",
"transcript": "NM_001367692.1",
"protein_id": "NP_001354621.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 888,
"cds_start": 2452,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Ile",
"transcript": "NM_001367677.1",
"protein_id": "NP_001354606.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 887,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2536G>A",
"hgvs_p": "p.Val846Ile",
"transcript": "NM_001367703.1",
"protein_id": "NP_001354632.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 885,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2533G>A",
"hgvs_p": "p.Val845Ile",
"transcript": "NM_001367699.1",
"protein_id": "NP_001354628.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 884,
"cds_start": 2533,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 2584,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2434G>A",
"hgvs_p": "p.Val812Ile",
"transcript": "NM_001367690.1",
"protein_id": "NP_001354619.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 882,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2485,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Val809Ile",
"transcript": "NM_001367641.1",
"protein_id": "NP_001354570.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 879,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Val808Ile",
"transcript": "NM_001367698.1",
"protein_id": "NP_001354627.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 878,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Val796Ile",
"transcript": "NM_001367666.1",
"protein_id": "NP_001354595.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 866,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_001367691.1",
"protein_id": "NP_001354620.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 865,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Val785Ile",
"transcript": "NM_001367655.1",
"protein_id": "NP_001354584.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 855,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Val785Ile",
"transcript": "NM_001367700.1",
"protein_id": "NP_001354629.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 855,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Val781Ile",
"transcript": "NM_001367674.1",
"protein_id": "NP_001354603.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 851,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Ile",
"transcript": "NM_001367697.1",
"protein_id": "NP_001354626.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 850,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Val779Ile",
"transcript": "NM_001367643.1",
"protein_id": "NP_001354572.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 849,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Val809Ile",
"transcript": "NM_001367682.1",
"protein_id": "NP_001354611.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 848,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "NM_001367676.1",
"protein_id": "NP_001354605.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 846,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Val775Ile",
"transcript": "NM_001367640.1",
"protein_id": "NP_001354569.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 845,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2302G>A",
"hgvs_p": "p.Val768Ile",
"transcript": "NM_001367684.1",
"protein_id": "NP_001354613.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 838,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2293G>A",
"hgvs_p": "p.Val765Ile",
"transcript": "NM_001367675.1",
"protein_id": "NP_001354604.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 835,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_001367636.1",
"protein_id": "NP_001354565.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 834,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2275G>A",
"hgvs_p": "p.Val759Ile",
"transcript": "NM_001367673.1",
"protein_id": "NP_001354602.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 829,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2272G>A",
"hgvs_p": "p.Val758Ile",
"transcript": "NM_001367646.1",
"protein_id": "NP_001354575.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 828,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Val752Ile",
"transcript": "NM_001367664.1",
"protein_id": "NP_001354593.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 822,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Val752Ile",
"transcript": "ENST00000405266.5",
"protein_id": "ENSP00000384116.1",
"transcript_support_level": 5,
"aa_start": 752,
"aa_end": null,
"aa_length": 822,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Val751Ile",
"transcript": "NM_001367638.1",
"protein_id": "NP_001354567.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 821,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Ile",
"transcript": "NM_001367693.1",
"protein_id": "NP_001354622.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 819,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2227G>A",
"hgvs_p": "p.Val743Ile",
"transcript": "NM_001367683.1",
"protein_id": "NP_001354612.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 813,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Val742Ile",
"transcript": "NM_001367688.1",
"protein_id": "NP_001354617.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 812,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2221G>A",
"hgvs_p": "p.Val741Ile",
"transcript": "NM_001367696.1",
"protein_id": "NP_001354625.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 811,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Val731Ile",
"transcript": "NM_001367645.1",
"protein_id": "NP_001354574.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 801,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Val731Ile",
"transcript": "NM_001367681.1",
"protein_id": "NP_001354610.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 801,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Val730Ile",
"transcript": "NM_001367649.1",
"protein_id": "NP_001354578.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 800,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2292,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Val729Ile",
"transcript": "NM_001367668.1",
"protein_id": "NP_001354597.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 799,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2275G>A",
"hgvs_p": "p.Val759Ile",
"transcript": "NM_001367706.1",
"protein_id": "NP_001354635.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 798,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Val724Ile",
"transcript": "NM_001367669.1",
"protein_id": "NP_001354598.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 794,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Val752Ile",
"transcript": "NM_001367685.1",
"protein_id": "NP_001354614.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 791,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Val719Ile",
"transcript": "NM_001367704.1",
"protein_id": "NP_001354633.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 789,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Ile",
"transcript": "NM_001367633.1",
"protein_id": "NP_001354562.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 785,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Ile",
"transcript": "NM_001367634.1",
"protein_id": "NP_001354563.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 785,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Ile",
"transcript": "NM_001367694.1",
"protein_id": "NP_001354623.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 784,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Val710Ile",
"transcript": "NM_001367642.1",
"protein_id": "NP_001354571.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 780,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Val704Ile",
"transcript": "NM_001367672.1",
"protein_id": "NP_001354601.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 774,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Ile",
"transcript": "NM_001367689.1",
"protein_id": "NP_001354618.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 772,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Val701Ile",
"transcript": "NM_001367679.1",
"protein_id": "NP_001354608.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 771,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Val729Ile",
"transcript": "NM_001367647.1",
"protein_id": "NP_001354576.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 768,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Val719Ile",
"transcript": "NM_001367702.1",
"protein_id": "NP_001354631.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 766,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2077G>A",
"hgvs_p": "p.Val693Ile",
"transcript": "NM_001367680.1",
"protein_id": "NP_001354609.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 763,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "NM_001367644.1",
"protein_id": "NP_001354573.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 762,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2065G>A",
"hgvs_p": "p.Val689Ile",
"transcript": "NM_001367695.1",
"protein_id": "NP_001354624.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 759,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Ile",
"transcript": "NM_001367653.1",
"protein_id": "NP_001354582.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 754,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Ile",
"transcript": "NM_001367665.1",
"protein_id": "NP_001354594.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 753,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2044G>A",
"hgvs_p": "p.Val682Ile",
"transcript": "NM_001367701.1",
"protein_id": "NP_001354630.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 752,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Ile",
"transcript": "NM_001367667.1",
"protein_id": "NP_001354596.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 741,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Val669Ile",
"transcript": "NM_001367648.1",
"protein_id": "NP_001354577.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 739,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Val665Ile",
"transcript": "NM_001367670.1",
"protein_id": "NP_001354599.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 735,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Ile",
"transcript": "NM_001367671.1",
"protein_id": "NP_001354600.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 734,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1975G>A",
"hgvs_p": "p.Val659Ile",
"transcript": "NM_001367686.1",
"protein_id": "NP_001354615.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 729,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Val654Ile",
"transcript": "NM_001367660.1",
"protein_id": "NP_001354589.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 724,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Ile",
"transcript": "NM_001367662.1",
"protein_id": "NP_001354591.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 703,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Val632Ile",
"transcript": "NM_025154.6",
"protein_id": "NP_079430.3",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 702,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Val632Ile",
"transcript": "ENST00000389574.7",
"protein_id": "ENSP00000374225.3",
"transcript_support_level": 2,
"aa_start": 632,
"aa_end": null,
"aa_length": 702,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Val632Ile",
"transcript": "ENST00000425407.6",
"protein_id": "ENSP00000392309.2",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 702,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Val612Ile",
"transcript": "NM_001171944.2",
"protein_id": "NP_001165415.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 682,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Val612Ile",
"transcript": "ENST00000452783.6",
"protein_id": "ENSP00000413439.2",
"transcript_support_level": 2,
"aa_start": 612,
"aa_end": null,
"aa_length": 682,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Val598Ile",
"transcript": "NM_001367635.1",
"protein_id": "NP_001354564.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 668,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Val563Ile",
"transcript": "ENST00000433212.5",
"protein_id": "ENSP00000406653.1",
"transcript_support_level": 5,
"aa_start": 563,
"aa_end": null,
"aa_length": 633,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Val562Ile",
"transcript": "NM_001367639.1",
"protein_id": "NP_001354568.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 632,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Val526Ile",
"transcript": "NM_001367708.1",
"protein_id": "NP_001354637.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 596,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Ile",
"transcript": "NM_001367658.1",
"protein_id": "NP_001354587.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 547,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2702G>A",
"hgvs_p": null,
"transcript": "ENST00000413171.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1038G>A",
"hgvs_p": null,
"transcript": "ENST00000497943.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2191G>A",
"hgvs_p": null,
"transcript": "NR_160281.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2517G>A",
"hgvs_p": null,
"transcript": "NR_160282.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2295G>A",
"hgvs_p": null,
"transcript": "NR_160283.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1131+3444G>A",
"hgvs_p": null,
"transcript": "ENST00000457861.1",
"protein_id": "ENSP00000406444.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124901568",
"gene_hgnc_id": null,
"hgvs_c": "n.282-1818C>T",
"hgvs_p": null,
"transcript": "XR_007060177.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"dbsnp": "rs200907784",
"frequency_reference_population": 0.00079916476,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1289,
"gnomad_exomes_af": 0.000804401,
"gnomad_genomes_af": 0.000748916,
"gnomad_exomes_ac": 1175,
"gnomad_genomes_ac": 114,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04442721605300903,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.337,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0951,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.689,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000401592.6",
"gene_symbol": "SUN1",
"hgnc_id": 18587,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Ile"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007060177.1",
"gene_symbol": "LOC124901568",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.282-1818C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Emery-Dreifuss muscular dystrophy,SUN1-related disorder,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy|not specified|SUN1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}