← 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: 7-860134-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=860134&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 860134,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001367651.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "NM_001130965.3",
"protein_id": "NP_001124437.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "ENST00000401592.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130965.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000401592.6",
"protein_id": "ENSP00000384015.1",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "NM_001130965.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401592.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1306G>C",
"hgvs_p": "p.Val436Leu",
"transcript": "ENST00000429178.5",
"protein_id": "ENSP00000409909.1",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 710,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429178.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1640G>C",
"hgvs_p": null,
"transcript": "ENST00000475971.5",
"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": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475971.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "ENST00000963118.1",
"protein_id": "ENSP00000633177.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963118.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Val719Leu",
"transcript": "ENST00000963093.1",
"protein_id": "ENSP00000633151.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 993,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963093.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2152G>C",
"hgvs_p": "p.Val718Leu",
"transcript": "ENST00000963103.1",
"protein_id": "ENSP00000633162.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 992,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963103.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2107G>C",
"hgvs_p": "p.Val703Leu",
"transcript": "ENST00000963140.1",
"protein_id": "ENSP00000633199.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 977,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963140.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2104G>C",
"hgvs_p": "p.Val702Leu",
"transcript": "ENST00000963135.1",
"protein_id": "ENSP00000633194.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 976,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963135.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2080G>C",
"hgvs_p": "p.Val694Leu",
"transcript": "ENST00000963074.1",
"protein_id": "ENSP00000633133.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 968,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963074.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2077G>C",
"hgvs_p": "p.Val693Leu",
"transcript": "ENST00000963082.1",
"protein_id": "ENSP00000633141.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 967,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963082.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2071G>C",
"hgvs_p": "p.Val691Leu",
"transcript": "ENST00000963107.1",
"protein_id": "ENSP00000633166.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 965,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963107.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2044G>C",
"hgvs_p": "p.Val682Leu",
"transcript": "ENST00000963079.1",
"protein_id": "ENSP00000633138.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 956,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963079.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2041G>C",
"hgvs_p": "p.Val681Leu",
"transcript": "ENST00000881164.1",
"protein_id": "ENSP00000551223.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 955,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881164.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2011G>C",
"hgvs_p": "p.Val671Leu",
"transcript": "ENST00000881168.1",
"protein_id": "ENSP00000551227.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 945,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881168.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2077G>C",
"hgvs_p": "p.Val693Leu",
"transcript": "ENST00000963137.1",
"protein_id": "ENSP00000633196.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 936,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963137.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1978G>C",
"hgvs_p": "p.Val660Leu",
"transcript": "ENST00000963102.1",
"protein_id": "ENSP00000633161.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 934,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963102.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1945G>C",
"hgvs_p": "p.Val649Leu",
"transcript": "NM_001367651.1",
"protein_id": "NP_001354580.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 923,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367651.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1945G>C",
"hgvs_p": "p.Val649Leu",
"transcript": "ENST00000963124.1",
"protein_id": "ENSP00000633183.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 923,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963124.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1942G>C",
"hgvs_p": "p.Val648Leu",
"transcript": "ENST00000963113.1",
"protein_id": "ENSP00000633172.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 922,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963113.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1924G>C",
"hgvs_p": "p.Val642Leu",
"transcript": "NM_001367705.1",
"protein_id": "NP_001354634.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 916,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367705.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "NM_001367678.1",
"protein_id": "NP_001354607.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 915,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367678.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000881147.1",
"protein_id": "ENSP00000551206.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 915,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881147.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1924G>C",
"hgvs_p": "p.Val642Leu",
"transcript": "ENST00000963078.1",
"protein_id": "ENSP00000633137.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 915,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963078.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000963094.1",
"protein_id": "ENSP00000633153.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 915,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963094.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000963152.1",
"protein_id": "ENSP00000633211.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 915,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963152.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000963153.1",
"protein_id": "ENSP00000633212.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 915,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963153.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000963160.1",
"protein_id": "ENSP00000633219.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 915,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963160.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000963169.1",
"protein_id": "ENSP00000633228.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 915,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 4770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963169.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000963101.1",
"protein_id": "ENSP00000633160.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 914,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963101.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1915G>C",
"hgvs_p": "p.Val639Leu",
"transcript": "ENST00000963128.1",
"protein_id": "ENSP00000633187.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 913,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963128.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1909G>C",
"hgvs_p": "p.Val637Leu",
"transcript": "ENST00000963108.1",
"protein_id": "ENSP00000633167.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 911,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963108.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1900G>C",
"hgvs_p": "p.Val634Leu",
"transcript": "ENST00000963132.1",
"protein_id": "ENSP00000633191.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 908,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963132.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Val631Leu",
"transcript": "ENST00000881151.1",
"protein_id": "ENSP00000551210.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 905,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881151.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Val630Leu",
"transcript": "ENST00000881170.1",
"protein_id": "ENSP00000551229.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 904,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881170.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Val630Leu",
"transcript": "ENST00000881181.1",
"protein_id": "ENSP00000551240.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 904,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881181.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Val630Leu",
"transcript": "ENST00000963161.1",
"protein_id": "ENSP00000633220.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 904,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963161.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1882G>C",
"hgvs_p": "p.Val628Leu",
"transcript": "ENST00000963104.1",
"protein_id": "ENSP00000633163.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 902,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963104.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1879G>C",
"hgvs_p": "p.Val627Leu",
"transcript": "ENST00000963120.1",
"protein_id": "ENSP00000633179.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 901,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963120.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Val616Leu",
"transcript": "ENST00000963086.1",
"protein_id": "ENSP00000633145.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 890,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963086.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1843G>C",
"hgvs_p": "p.Val615Leu",
"transcript": "ENST00000963133.1",
"protein_id": "ENSP00000633192.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 889,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963133.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Val614Leu",
"transcript": "NM_001367692.1",
"protein_id": "NP_001354621.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 888,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367692.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Val614Leu",
"transcript": "ENST00000881149.1",
"protein_id": "ENSP00000551208.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 888,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881149.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Val614Leu",
"transcript": "ENST00000881153.1",
"protein_id": "ENSP00000551212.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 888,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881153.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Val614Leu",
"transcript": "ENST00000916986.1",
"protein_id": "ENSP00000587045.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 888,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916986.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Val614Leu",
"transcript": "ENST00000916987.1",
"protein_id": "ENSP00000587046.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 888,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 6081,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916987.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Val614Leu",
"transcript": "ENST00000963151.1",
"protein_id": "ENSP00000633210.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 888,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963151.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1837G>C",
"hgvs_p": "p.Val613Leu",
"transcript": "NM_001367677.1",
"protein_id": "NP_001354606.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 887,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367677.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1837G>C",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000881159.1",
"protein_id": "ENSP00000551218.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 887,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881159.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1837G>C",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000963146.1",
"protein_id": "ENSP00000633205.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 887,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963146.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1837G>C",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000963156.1",
"protein_id": "ENSP00000633215.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 887,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963156.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1837G>C",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000963166.1",
"protein_id": "ENSP00000633225.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 887,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963166.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1924G>C",
"hgvs_p": "p.Val642Leu",
"transcript": "NM_001367703.1",
"protein_id": "NP_001354632.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 885,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367703.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1924G>C",
"hgvs_p": "p.Val642Leu",
"transcript": "ENST00000963100.1",
"protein_id": "ENSP00000633159.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 885,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963100.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "NM_001367699.1",
"protein_id": "NP_001354628.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 884,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367699.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Val641Leu",
"transcript": "ENST00000963141.1",
"protein_id": "ENSP00000633200.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 884,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963141.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1825G>C",
"hgvs_p": "p.Val609Leu",
"transcript": "ENST00000881154.1",
"protein_id": "ENSP00000551213.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 883,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881154.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1825G>C",
"hgvs_p": "p.Val609Leu",
"transcript": "ENST00000963155.1",
"protein_id": "ENSP00000633214.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 883,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963155.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1822G>C",
"hgvs_p": "p.Val608Leu",
"transcript": "NM_001367690.1",
"protein_id": "NP_001354619.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 882,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367690.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Val605Leu",
"transcript": "NM_001367641.1",
"protein_id": "NP_001354570.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 879,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367641.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "NM_001367698.1",
"protein_id": "NP_001354627.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367698.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000881150.1",
"protein_id": "ENSP00000551209.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881150.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000881173.1",
"protein_id": "ENSP00000551232.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881173.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963145.1",
"protein_id": "ENSP00000633204.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 4658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963145.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963158.1",
"protein_id": "ENSP00000633217.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963158.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963163.1",
"protein_id": "ENSP00000633222.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963163.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963164.1",
"protein_id": "ENSP00000633223.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963164.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963165.1",
"protein_id": "ENSP00000633224.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963165.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963168.1",
"protein_id": "ENSP00000633227.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2719,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963168.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963175.1",
"protein_id": "ENSP00000633234.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 4771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963175.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963179.1",
"protein_id": "ENSP00000633238.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 878,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963179.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1807G>C",
"hgvs_p": "p.Val603Leu",
"transcript": "ENST00000916964.1",
"protein_id": "ENSP00000587023.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 877,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916964.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Val630Leu",
"transcript": "ENST00000881172.1",
"protein_id": "ENSP00000551231.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 873,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881172.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Val599Leu",
"transcript": "ENST00000963126.1",
"protein_id": "ENSP00000633185.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 873,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963126.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1792G>C",
"hgvs_p": "p.Val598Leu",
"transcript": "ENST00000963142.1",
"protein_id": "ENSP00000633201.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 872,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963142.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1789G>C",
"hgvs_p": "p.Val597Leu",
"transcript": "ENST00000963172.1",
"protein_id": "ENSP00000633231.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 871,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963172.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"transcript": "ENST00000881160.1",
"protein_id": "ENSP00000551219.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 868,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881160.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"transcript": "ENST00000963162.1",
"protein_id": "ENSP00000633221.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 868,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963162.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Val593Leu",
"transcript": "ENST00000963089.1",
"protein_id": "ENSP00000633148.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 867,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963089.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Val592Leu",
"transcript": "NM_001367666.1",
"protein_id": "NP_001354595.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 866,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367666.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1771G>C",
"hgvs_p": "p.Val591Leu",
"transcript": "NM_001367691.1",
"protein_id": "NP_001354620.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 865,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367691.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1762G>C",
"hgvs_p": "p.Val588Leu",
"transcript": "ENST00000963099.1",
"protein_id": "ENSP00000633158.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 862,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963099.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1759G>C",
"hgvs_p": "p.Val587Leu",
"transcript": "ENST00000963134.1",
"protein_id": "ENSP00000633193.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 861,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963134.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Val614Leu",
"transcript": "ENST00000963144.1",
"protein_id": "ENSP00000633203.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 857,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963144.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1741G>C",
"hgvs_p": "p.Val581Leu",
"transcript": "NM_001367655.1",
"protein_id": "NP_001354584.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 855,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367655.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1741G>C",
"hgvs_p": "p.Val581Leu",
"transcript": "NM_001367700.1",
"protein_id": "NP_001354629.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 855,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367700.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1738G>C",
"hgvs_p": "p.Val580Leu",
"transcript": "ENST00000963087.1",
"protein_id": "ENSP00000633146.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 854,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963087.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1738G>C",
"hgvs_p": "p.Val580Leu",
"transcript": "ENST00000963119.1",
"protein_id": "ENSP00000633178.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 854,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963119.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1735G>C",
"hgvs_p": "p.Val579Leu",
"transcript": "ENST00000963075.1",
"protein_id": "ENSP00000633134.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 853,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963075.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1729G>C",
"hgvs_p": "p.Val577Leu",
"transcript": "NM_001367674.1",
"protein_id": "NP_001354603.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 851,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367674.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1729G>C",
"hgvs_p": "p.Val577Leu",
"transcript": "ENST00000881180.1",
"protein_id": "ENSP00000551239.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 851,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881180.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1729G>C",
"hgvs_p": "p.Val577Leu",
"transcript": "ENST00000916981.1",
"protein_id": "ENSP00000587040.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 851,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916981.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1726G>C",
"hgvs_p": "p.Val576Leu",
"transcript": "NM_001367697.1",
"protein_id": "NP_001354626.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 850,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367697.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1726G>C",
"hgvs_p": "p.Val576Leu",
"transcript": "ENST00000916975.1",
"protein_id": "ENSP00000587034.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 850,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916975.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1723G>C",
"hgvs_p": "p.Val575Leu",
"transcript": "NM_001367643.1",
"protein_id": "NP_001354572.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 849,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367643.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1723G>C",
"hgvs_p": "p.Val575Leu",
"transcript": "ENST00000963138.1",
"protein_id": "ENSP00000633197.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 849,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963138.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Val605Leu",
"transcript": "NM_001367682.1",
"protein_id": "NP_001354611.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 848,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367682.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Val605Leu",
"transcript": "ENST00000881167.1",
"protein_id": "ENSP00000551226.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 848,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881167.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000963125.1",
"protein_id": "ENSP00000633184.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 847,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963125.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "NM_001367676.1",
"protein_id": "NP_001354605.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367676.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000881156.1",
"protein_id": "ENSP00000551215.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881156.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000881178.1",
"protein_id": "ENSP00000551237.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881178.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000963088.1",
"protein_id": "ENSP00000633147.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963088.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1717G>C",
"hgvs_p": "p.Val573Leu",
"transcript": "ENST00000963123.1",
"protein_id": "ENSP00000633182.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 846,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963123.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000963167.1",
"protein_id": "ENSP00000633226.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963167.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000963173.1",
"protein_id": "ENSP00000633232.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963173.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000963174.1",
"protein_id": "ENSP00000633233.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963174.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000963177.1",
"protein_id": "ENSP00000633236.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2260,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963177.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000963180.1",
"protein_id": "ENSP00000633239.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 846,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963180.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "NM_001367640.1",
"protein_id": "NP_001354569.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 845,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367640.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "ENST00000881155.1",
"protein_id": "ENSP00000551214.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 845,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881155.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "ENST00000963149.1",
"protein_id": "ENSP00000633208.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 845,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963149.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "ENST00000963154.1",
"protein_id": "ENSP00000633213.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 845,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963154.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Val566Leu",
"transcript": "ENST00000963176.1",
"protein_id": "ENSP00000633235.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 840,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963176.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1693G>C",
"hgvs_p": "p.Val565Leu",
"transcript": "ENST00000916983.1",
"protein_id": "ENSP00000587042.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 839,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916983.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1690G>C",
"hgvs_p": "p.Val564Leu",
"transcript": "NM_001367684.1",
"protein_id": "NP_001354613.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 838,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367684.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1684G>C",
"hgvs_p": "p.Val562Leu",
"transcript": "ENST00000881179.1",
"protein_id": "ENSP00000551238.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 836,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 4115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881179.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Val561Leu",
"transcript": "NM_001367675.1",
"protein_id": "NP_001354604.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 835,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367675.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Val561Leu",
"transcript": "ENST00000881177.1",
"protein_id": "ENSP00000551236.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 835,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881177.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1771G>C",
"hgvs_p": "p.Val591Leu",
"transcript": "NM_001367636.1",
"protein_id": "NP_001354565.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 834,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367636.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1675G>C",
"hgvs_p": "p.Val559Leu",
"transcript": "ENST00000963131.1",
"protein_id": "ENSP00000633190.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 833,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963131.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1666G>C",
"hgvs_p": "p.Val556Leu",
"transcript": "ENST00000963110.1",
"protein_id": "ENSP00000633169.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 830,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963110.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Val555Leu",
"transcript": "NM_001367673.1",
"protein_id": "NP_001354602.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 829,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367673.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Val555Leu",
"transcript": "ENST00000963147.1",
"protein_id": "ENSP00000633206.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 829,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963147.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Val555Leu",
"transcript": "ENST00000963170.1",
"protein_id": "ENSP00000633229.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 829,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963170.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1660G>C",
"hgvs_p": "p.Val554Leu",
"transcript": "NM_001367646.1",
"protein_id": "NP_001354575.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 828,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367646.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1660G>C",
"hgvs_p": "p.Val554Leu",
"transcript": "ENST00000963130.1",
"protein_id": "ENSP00000633189.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 828,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963130.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Val548Leu",
"transcript": "NM_001367664.1",
"protein_id": "NP_001354593.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 822,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367664.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Val548Leu",
"transcript": "ENST00000405266.5",
"protein_id": "ENSP00000384116.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 822,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405266.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Val548Leu",
"transcript": "ENST00000881162.1",
"protein_id": "ENSP00000551221.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 822,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881162.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Val548Leu",
"transcript": "ENST00000916963.1",
"protein_id": "ENSP00000587022.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 822,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916963.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Val548Leu",
"transcript": "ENST00000963178.1",
"protein_id": "ENSP00000633237.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 822,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963178.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Val547Leu",
"transcript": "NM_001367638.1",
"protein_id": "NP_001354567.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 821,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367638.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Val547Leu",
"transcript": "ENST00000881163.1",
"protein_id": "ENSP00000551222.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 821,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881163.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Val547Leu",
"transcript": "ENST00000963117.1",
"protein_id": "ENSP00000633176.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 821,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963117.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1726G>C",
"hgvs_p": "p.Val576Leu",
"transcript": "NM_001367693.1",
"protein_id": "NP_001354622.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 819,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367693.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1630G>C",
"hgvs_p": "p.Val544Leu",
"transcript": "ENST00000881165.1",
"protein_id": "ENSP00000551224.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 818,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881165.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1630G>C",
"hgvs_p": "p.Val544Leu",
"transcript": "ENST00000881176.1",
"protein_id": "ENSP00000551235.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 818,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881176.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1630G>C",
"hgvs_p": "p.Val544Leu",
"transcript": "ENST00000963129.1",
"protein_id": "ENSP00000633188.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 818,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963129.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "ENST00000916974.1",
"protein_id": "ENSP00000587033.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 817,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916974.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000963127.1",
"protein_id": "ENSP00000633186.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 815,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963127.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "ENST00000963081.1",
"protein_id": "ENSP00000633140.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 814,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963081.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1618G>C",
"hgvs_p": "p.Val540Leu",
"transcript": "ENST00000963143.1",
"protein_id": "ENSP00000633202.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 814,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963143.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1615G>C",
"hgvs_p": "p.Val539Leu",
"transcript": "NM_001367683.1",
"protein_id": "NP_001354612.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 813,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367683.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1615G>C",
"hgvs_p": "p.Val539Leu",
"transcript": "ENST00000881161.1",
"protein_id": "ENSP00000551220.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 813,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881161.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1615G>C",
"hgvs_p": "p.Val539Leu",
"transcript": "ENST00000963083.1",
"protein_id": "ENSP00000633142.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 813,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963083.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1615G>C",
"hgvs_p": "p.Val539Leu",
"transcript": "ENST00000963148.1",
"protein_id": "ENSP00000633207.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 813,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963148.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "NM_001367688.1",
"protein_id": "NP_001354617.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 812,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367688.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "ENST00000963073.1",
"protein_id": "ENSP00000633132.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 812,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963073.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1609G>C",
"hgvs_p": "p.Val537Leu",
"transcript": "NM_001367696.1",
"protein_id": "NP_001354625.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 811,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367696.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1609G>C",
"hgvs_p": "p.Val537Leu",
"transcript": "ENST00000916972.1",
"protein_id": "ENSP00000587031.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 811,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916972.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1606G>C",
"hgvs_p": "p.Val536Leu",
"transcript": "ENST00000881174.1",
"protein_id": "ENSP00000551233.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 810,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881174.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Val535Leu",
"transcript": "ENST00000963098.1",
"protein_id": "ENSP00000633157.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 809,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963098.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1591G>C",
"hgvs_p": "p.Val531Leu",
"transcript": "ENST00000963112.1",
"protein_id": "ENSP00000633171.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 805,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963112.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1582G>C",
"hgvs_p": "p.Val528Leu",
"transcript": "ENST00000963105.1",
"protein_id": "ENSP00000633164.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 802,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963105.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Val527Leu",
"transcript": "NM_001367645.1",
"protein_id": "NP_001354574.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 801,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367645.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Val527Leu",
"transcript": "NM_001367681.1",
"protein_id": "NP_001354610.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 801,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367681.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Val526Leu",
"transcript": "NM_001367649.1",
"protein_id": "NP_001354578.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 800,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367649.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1573G>C",
"hgvs_p": "p.Val525Leu",
"transcript": "NM_001367668.1",
"protein_id": "NP_001354597.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 799,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367668.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1573G>C",
"hgvs_p": "p.Val525Leu",
"transcript": "ENST00000963116.1",
"protein_id": "ENSP00000633175.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 799,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963116.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Val555Leu",
"transcript": "NM_001367706.1",
"protein_id": "NP_001354635.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 798,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367706.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1558G>C",
"hgvs_p": "p.Val520Leu",
"transcript": "NM_001367669.1",
"protein_id": "NP_001354598.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 794,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367669.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Val548Leu",
"transcript": "NM_001367685.1",
"protein_id": "NP_001354614.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 791,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367685.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Val548Leu",
"transcript": "ENST00000881175.1",
"protein_id": "ENSP00000551234.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 791,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881175.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001367704.1",
"protein_id": "NP_001354633.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 789,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367704.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "ENST00000881157.1",
"protein_id": "ENSP00000551216.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 789,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881157.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "ENST00000963121.1",
"protein_id": "ENSP00000633180.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 789,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963121.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1540G>C",
"hgvs_p": "p.Val514Leu",
"transcript": "ENST00000963111.1",
"protein_id": "ENSP00000633170.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 788,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963111.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "NM_001367633.1",
"protein_id": "NP_001354562.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367633.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "NM_001367634.1",
"protein_id": "NP_001354563.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367634.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000881148.1",
"protein_id": "ENSP00000551207.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881148.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000916984.1",
"protein_id": "ENSP00000587043.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916984.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000916985.1",
"protein_id": "ENSP00000587044.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916985.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000963076.1",
"protein_id": "ENSP00000633135.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963076.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000963157.1",
"protein_id": "ENSP00000633216.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963157.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000963171.1",
"protein_id": "ENSP00000633230.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 785,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963171.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Val510Leu",
"transcript": "NM_001367694.1",
"protein_id": "NP_001354623.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 784,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367694.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Val510Leu",
"transcript": "ENST00000881152.1",
"protein_id": "ENSP00000551211.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 784,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881152.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000963139.1",
"protein_id": "ENSP00000633198.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 784,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 3970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963139.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Val510Leu",
"transcript": "ENST00000963150.1",
"protein_id": "ENSP00000633209.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 784,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963150.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Val510Leu",
"transcript": "ENST00000963181.1",
"protein_id": "ENSP00000633240.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 784,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963181.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1615G>C",
"hgvs_p": "p.Val539Leu",
"transcript": "ENST00000963136.1",
"protein_id": "ENSP00000633195.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 782,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963136.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "ENST00000963114.1",
"protein_id": "ENSP00000633173.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 781,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963114.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1519G>C",
"hgvs_p": "p.Val507Leu",
"transcript": "ENST00000963122.1",
"protein_id": "ENSP00000633181.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 781,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963122.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1516G>C",
"hgvs_p": "p.Val506Leu",
"transcript": "NM_001367642.1",
"protein_id": "NP_001354571.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 780,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367642.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1516G>C",
"hgvs_p": "p.Val506Leu",
"transcript": "ENST00000881166.1",
"protein_id": "ENSP00000551225.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 780,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881166.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1516G>C",
"hgvs_p": "p.Val506Leu",
"transcript": "ENST00000963159.1",
"protein_id": "ENSP00000633218.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 780,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963159.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1513G>C",
"hgvs_p": "p.Val505Leu",
"transcript": "ENST00000881171.1",
"protein_id": "ENSP00000551230.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 779,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881171.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Val535Leu",
"transcript": "ENST00000963109.1",
"protein_id": "ENSP00000633168.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 778,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963109.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Val503Leu",
"transcript": "ENST00000963096.1",
"protein_id": "ENSP00000633155.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 777,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963096.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Val503Leu",
"transcript": "ENST00000963106.1",
"protein_id": "ENSP00000633165.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 777,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963106.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1504G>C",
"hgvs_p": "p.Val502Leu",
"transcript": "ENST00000916966.1",
"protein_id": "ENSP00000587025.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 776,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916966.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1498G>C",
"hgvs_p": "p.Val500Leu",
"transcript": "NM_001367672.1",
"protein_id": "NP_001354601.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 774,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367672.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1498G>C",
"hgvs_p": "p.Val500Leu",
"transcript": "ENST00000916969.1",
"protein_id": "ENSP00000587028.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 774,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916969.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1495G>C",
"hgvs_p": "p.Val499Leu",
"transcript": "ENST00000916973.1",
"protein_id": "ENSP00000587032.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 773,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916973.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1492G>C",
"hgvs_p": "p.Val498Leu",
"transcript": "NM_001367689.1",
"protein_id": "NP_001354618.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 772,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367689.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1489G>C",
"hgvs_p": "p.Val497Leu",
"transcript": "NM_001367679.1",
"protein_id": "NP_001354608.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 771,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367679.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1573G>C",
"hgvs_p": "p.Val525Leu",
"transcript": "NM_001367647.1",
"protein_id": "NP_001354576.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 768,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367647.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001367702.1",
"protein_id": "NP_001354631.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 766,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367702.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Val489Leu",
"transcript": "NM_001367680.1",
"protein_id": "NP_001354609.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 763,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367680.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Val488Leu",
"transcript": "NM_001367644.1",
"protein_id": "NP_001354573.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 762,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367644.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Val486Leu",
"transcript": "ENST00000916976.1",
"protein_id": "ENSP00000587035.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 760,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916976.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1453G>C",
"hgvs_p": "p.Val485Leu",
"transcript": "NM_001367695.1",
"protein_id": "NP_001354624.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 759,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367695.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "NM_001367653.1",
"protein_id": "NP_001354582.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 754,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367653.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Val511Leu",
"transcript": "ENST00000963090.1",
"protein_id": "ENSP00000633149.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 754,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963090.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Val510Leu",
"transcript": "NM_001367665.1",
"protein_id": "NP_001354594.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 753,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367665.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Val479Leu",
"transcript": "ENST00000881158.1",
"protein_id": "ENSP00000551217.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 753,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881158.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1432G>C",
"hgvs_p": "p.Val478Leu",
"transcript": "NM_001367701.1",
"protein_id": "NP_001354630.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 752,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367701.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1429G>C",
"hgvs_p": "p.Val477Leu",
"transcript": "ENST00000916965.1",
"protein_id": "ENSP00000587024.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 751,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916965.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"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>C",
"hgvs_p": "p.Val477Leu",
"transcript": "ENST00000916967.1",
"protein_id": "ENSP00000587026.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 751,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916967.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1429G>C",
"hgvs_p": "p.Val477Leu",
"transcript": "ENST00000916980.1",
"protein_id": "ENSP00000587039.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 751,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916980.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1516G>C",
"hgvs_p": "p.Val506Leu",
"transcript": "ENST00000963077.1",
"protein_id": "ENSP00000633136.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 749,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963077.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1516G>C",
"hgvs_p": "p.Val506Leu",
"transcript": "ENST00000963115.1",
"protein_id": "ENSP00000633174.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 749,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963115.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Val470Leu",
"transcript": "ENST00000963084.1",
"protein_id": "ENSP00000633143.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 744,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963084.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1405G>C",
"hgvs_p": "p.Val469Leu",
"transcript": "ENST00000963091.1",
"protein_id": "ENSP00000633150.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 743,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963091.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1492G>C",
"hgvs_p": "p.Val498Leu",
"transcript": "NM_001367667.1",
"protein_id": "NP_001354596.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 741,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367667.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1399G>C",
"hgvs_p": "p.Val467Leu",
"transcript": "ENST00000916968.1",
"protein_id": "ENSP00000587027.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 741,
"cds_start": 1399,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916968.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1396G>C",
"hgvs_p": "p.Val466Leu",
"transcript": "ENST00000916970.1",
"protein_id": "ENSP00000587029.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 740,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916970.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Val465Leu",
"transcript": "NM_001367648.1",
"protein_id": "NP_001354577.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367648.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1381G>C",
"hgvs_p": "p.Val461Leu",
"transcript": "NM_001367670.1",
"protein_id": "NP_001354599.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 735,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367670.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1378G>C",
"hgvs_p": "p.Val460Leu",
"transcript": "NM_001367671.1",
"protein_id": "NP_001354600.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 734,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367671.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1363G>C",
"hgvs_p": "p.Val455Leu",
"transcript": "NM_001367686.1",
"protein_id": "NP_001354615.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 729,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367686.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1351G>C",
"hgvs_p": "p.Val451Leu",
"transcript": "ENST00000916977.1",
"protein_id": "ENSP00000587036.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 725,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916977.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1348G>C",
"hgvs_p": "p.Val450Leu",
"transcript": "NM_001367660.1",
"protein_id": "NP_001354589.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 724,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367660.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1348G>C",
"hgvs_p": "p.Val450Leu",
"transcript": "ENST00000916979.1",
"protein_id": "ENSP00000587038.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 724,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916979.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1432G>C",
"hgvs_p": "p.Val478Leu",
"transcript": "ENST00000916978.1",
"protein_id": "ENSP00000587037.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 721,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916978.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1321G>C",
"hgvs_p": "p.Val441Leu",
"transcript": "ENST00000881169.1",
"protein_id": "ENSP00000551228.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 715,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881169.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1324G>C",
"hgvs_p": "p.Val442Leu",
"transcript": "ENST00000963080.1",
"protein_id": "ENSP00000633139.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 715,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963080.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1321G>C",
"hgvs_p": "p.Val441Leu",
"transcript": "ENST00000963085.1",
"protein_id": "ENSP00000633144.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 715,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963085.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1378G>C",
"hgvs_p": "p.Val460Leu",
"transcript": "NM_001367662.1",
"protein_id": "NP_001354591.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 703,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367662.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Val428Leu",
"transcript": "NM_025154.6",
"protein_id": "NP_079430.3",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 702,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025154.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Val428Leu",
"transcript": "ENST00000389574.7",
"protein_id": "ENSP00000374225.3",
"transcript_support_level": 2,
"aa_start": 428,
"aa_end": null,
"aa_length": 702,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389574.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Val428Leu",
"transcript": "ENST00000425407.6",
"protein_id": "ENSP00000392309.2",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 702,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425407.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Val409Leu",
"transcript": "ENST00000916971.1",
"protein_id": "ENSP00000587030.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 683,
"cds_start": 1225,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916971.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1222G>C",
"hgvs_p": "p.Val408Leu",
"transcript": "NM_001171944.2",
"protein_id": "NP_001165415.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 682,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171944.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1222G>C",
"hgvs_p": "p.Val408Leu",
"transcript": "ENST00000452783.6",
"protein_id": "ENSP00000413439.2",
"transcript_support_level": 2,
"aa_start": 408,
"aa_end": null,
"aa_length": 682,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452783.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Val407Leu",
"transcript": "ENST00000916982.1",
"protein_id": "ENSP00000587041.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 681,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916982.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1180G>C",
"hgvs_p": "p.Val394Leu",
"transcript": "NM_001367635.1",
"protein_id": "NP_001354564.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 668,
"cds_start": 1180,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367635.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1075G>C",
"hgvs_p": "p.Val359Leu",
"transcript": "ENST00000433212.5",
"protein_id": "ENSP00000406653.1",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 633,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433212.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Val358Leu",
"transcript": "NM_001367639.1",
"protein_id": "NP_001354568.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 632,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367639.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Val322Leu",
"transcript": "NM_001367708.1",
"protein_id": "NP_001354637.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 596,
"cds_start": 964,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367708.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"transcript": "NM_001367658.1",
"protein_id": "NP_001354587.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 547,
"cds_start": 817,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2090G>C",
"hgvs_p": null,
"transcript": "ENST00000413171.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000413171.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.682G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1579G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160281.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1942G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160282.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1683G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160283.1"
}
],
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"dbsnp": "rs369117433",
"frequency_reference_population": 6.8419763e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84198e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08034199476242065,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.1197,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.433,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367651.1",
"gene_symbol": "SUN1",
"hgnc_id": 18587,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1945G>C",
"hgvs_p": "p.Val649Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}