← 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: 6-111661835-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111661835&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111661835,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002037.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "NM_002037.5",
"protein_id": "NP_002028.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354650.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002037.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000354650.7",
"protein_id": "ENSP00000346671.3",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002037.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354650.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "ENST00000229471.8",
"protein_id": "ENSP00000229471.4",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229471.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1674C>G",
"hgvs_p": "p.Asp558Glu",
"transcript": "ENST00000905552.1",
"protein_id": "ENSP00000575611.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 589,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905552.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1674C>G",
"hgvs_p": "p.Asp558Glu",
"transcript": "ENST00000912320.1",
"protein_id": "ENSP00000582379.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 589,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912320.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1674C>G",
"hgvs_p": "p.Asp558Glu",
"transcript": "ENST00000912326.1",
"protein_id": "ENSP00000582385.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 589,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912326.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1674C>G",
"hgvs_p": "p.Asp558Glu",
"transcript": "ENST00000912327.1",
"protein_id": "ENSP00000582386.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 589,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912327.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1602C>G",
"hgvs_p": "p.Asp534Glu",
"transcript": "ENST00000966567.1",
"protein_id": "ENSP00000636626.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 565,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966567.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1587C>G",
"hgvs_p": "p.Asp529Glu",
"transcript": "ENST00000912325.1",
"protein_id": "ENSP00000582384.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 560,
"cds_start": 1587,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912325.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1578C>G",
"hgvs_p": "p.Asp526Glu",
"transcript": "ENST00000912324.1",
"protein_id": "ENSP00000582383.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 557,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912324.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1548C>G",
"hgvs_p": "p.Asp516Glu",
"transcript": "ENST00000912314.1",
"protein_id": "ENSP00000582373.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 547,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912314.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "NM_001370529.1",
"protein_id": "NP_001357458.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370529.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000368667.6",
"protein_id": "ENSP00000357656.2",
"transcript_support_level": 5,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368667.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905530.1",
"protein_id": "ENSP00000575589.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905530.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905533.1",
"protein_id": "ENSP00000575592.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905533.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905535.1",
"protein_id": "ENSP00000575594.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905535.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905540.1",
"protein_id": "ENSP00000575599.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905540.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905541.1",
"protein_id": "ENSP00000575600.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905541.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905543.1",
"protein_id": "ENSP00000575602.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905543.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905548.1",
"protein_id": "ENSP00000575607.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905548.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905549.1",
"protein_id": "ENSP00000575608.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905549.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905550.1",
"protein_id": "ENSP00000575609.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905550.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000905551.1",
"protein_id": "ENSP00000575610.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905551.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000912322.1",
"protein_id": "ENSP00000582381.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912322.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000912323.1",
"protein_id": "ENSP00000582382.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912323.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966561.1",
"protein_id": "ENSP00000636620.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966561.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966563.1",
"protein_id": "ENSP00000636622.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966563.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966565.1",
"protein_id": "ENSP00000636624.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966565.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966566.1",
"protein_id": "ENSP00000636625.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966566.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966568.1",
"protein_id": "ENSP00000636627.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966568.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966569.1",
"protein_id": "ENSP00000636628.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966569.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966570.1",
"protein_id": "ENSP00000636629.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966570.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966572.1",
"protein_id": "ENSP00000636631.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966572.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966573.1",
"protein_id": "ENSP00000636632.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966573.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966575.1",
"protein_id": "ENSP00000636634.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966575.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000966576.1",
"protein_id": "ENSP00000636635.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966576.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "NM_153047.4",
"protein_id": "NP_694592.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153047.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000368678.8",
"protein_id": "ENSP00000357667.4",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368678.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000368682.8",
"protein_id": "ENSP00000357671.3",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368682.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905532.1",
"protein_id": "ENSP00000575591.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905532.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905534.1",
"protein_id": "ENSP00000575593.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905534.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905537.1",
"protein_id": "ENSP00000575596.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905537.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905538.1",
"protein_id": "ENSP00000575597.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905538.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905539.1",
"protein_id": "ENSP00000575598.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905539.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905542.1",
"protein_id": "ENSP00000575601.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905542.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905544.1",
"protein_id": "ENSP00000575603.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905544.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905545.1",
"protein_id": "ENSP00000575604.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905545.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000905547.1",
"protein_id": "ENSP00000575606.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905547.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000912316.1",
"protein_id": "ENSP00000582375.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912316.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000912318.1",
"protein_id": "ENSP00000582377.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912318.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000912321.1",
"protein_id": "ENSP00000582380.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912321.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000966571.1",
"protein_id": "ENSP00000636630.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966571.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000966577.1",
"protein_id": "ENSP00000636636.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966577.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1419C>G",
"hgvs_p": "p.Asp473Glu",
"transcript": "ENST00000905531.1",
"protein_id": "ENSP00000575590.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 504,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905531.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1419C>G",
"hgvs_p": "p.Asp473Glu",
"transcript": "ENST00000912319.1",
"protein_id": "ENSP00000582378.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 504,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912319.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1410C>G",
"hgvs_p": "p.Asp470Glu",
"transcript": "ENST00000912317.1",
"protein_id": "ENSP00000582376.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 501,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912317.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "NM_153048.4",
"protein_id": "NP_694593.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153048.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "ENST00000905536.1",
"protein_id": "ENSP00000575595.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905536.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "ENST00000912315.1",
"protein_id": "ENSP00000582374.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912315.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.Asp391Glu",
"transcript": "ENST00000966562.1",
"protein_id": "ENSP00000636621.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 422,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966562.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1137C>G",
"hgvs_p": "p.Asp379Glu",
"transcript": "ENST00000966574.1",
"protein_id": "ENSP00000636633.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 410,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966574.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1023C>G",
"hgvs_p": "p.Asp341Glu",
"transcript": "ENST00000966564.1",
"protein_id": "ENSP00000636623.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 372,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966564.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000905546.1",
"protein_id": "ENSP00000575605.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 195,
"cds_start": 492,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905546.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010650.2",
"protein_id": "XP_016866139.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010650.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010651.2",
"protein_id": "XP_016866140.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010651.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010652.2",
"protein_id": "XP_016866141.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010652.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010653.2",
"protein_id": "XP_016866142.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010653.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418561.1",
"protein_id": "XP_047274517.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418561.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418562.1",
"protein_id": "XP_047274518.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418562.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418563.1",
"protein_id": "XP_047274519.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418563.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418565.1",
"protein_id": "XP_047274521.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418565.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418566.1",
"protein_id": "XP_047274522.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418566.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418567.1",
"protein_id": "XP_047274523.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418567.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418568.1",
"protein_id": "XP_047274524.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418568.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418569.1",
"protein_id": "XP_047274525.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418569.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418570.1",
"protein_id": "XP_047274526.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418570.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418571.1",
"protein_id": "XP_047274527.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418571.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "XM_005266892.5",
"protein_id": "XP_005266949.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266892.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "XM_047418572.1",
"protein_id": "XP_047274528.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418572.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1233C>G",
"hgvs_p": "p.Asp411Glu",
"transcript": "XM_047418573.1",
"protein_id": "XP_047274529.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 442,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "n.724C>G",
"hgvs_p": null,
"transcript": "ENST00000467921.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467921.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "n.371C>G",
"hgvs_p": null,
"transcript": "ENST00000491885.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491885.6"
}
],
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"dbsnp": "rs28763975",
"frequency_reference_population": 0.013498595,
"hom_count_reference_population": 172,
"allele_count_reference_population": 21789,
"gnomad_exomes_af": 0.0139486,
"gnomad_genomes_af": 0.00917925,
"gnomad_exomes_ac": 20391,
"gnomad_genomes_ac": 1398,
"gnomad_exomes_homalt": 166,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008390069007873535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.781,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002037.5",
"gene_symbol": "FYN",
"hgnc_id": 4037,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}