← 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: 1-45331238-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45331238&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45331238,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000456914.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001048174.2",
"protein_id": "NP_001041639.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": "ENST00000456914.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "ENST00000456914.7",
"protein_id": "ENSP00000407590.2",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": "NM_001048174.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"transcript": "ENST00000372098.7",
"protein_id": "ENSP00000361170.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 546,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461Cys",
"transcript": "ENST00000372110.7",
"protein_id": "ENSP00000361182.3",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 536,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "ENST00000372115.7",
"protein_id": "ENSP00000361187.3",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "ENST00000448481.5",
"protein_id": "ENSP00000409718.1",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 532,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "ENST00000354383.10",
"protein_id": "ENSP00000346354.6",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 522,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "ENST00000355498.6",
"protein_id": "ENSP00000347685.2",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "ENST00000372104.5",
"protein_id": "ENSP00000361176.1",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1149C>T",
"hgvs_p": null,
"transcript": "ENST00000475516.5",
"protein_id": "ENSP00000433843.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1149C>T",
"hgvs_p": null,
"transcript": "ENST00000481571.5",
"protein_id": "ENSP00000436597.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288208",
"gene_hgnc_id": null,
"hgvs_c": "n.1924C>T",
"hgvs_p": null,
"transcript": "ENST00000671898.1",
"protein_id": "ENSP00000499896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1149C>T",
"hgvs_p": null,
"transcript": "ENST00000475516.5",
"protein_id": "ENSP00000433843.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1149C>T",
"hgvs_p": null,
"transcript": "ENST00000481571.5",
"protein_id": "ENSP00000436597.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474Cys",
"transcript": "NM_001128425.2",
"protein_id": "NP_001121897.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 549,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474Cys",
"transcript": "ENST00000710952.2",
"protein_id": "ENSP00000518552.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 549,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"transcript": "NM_012222.3",
"protein_id": "NP_036354.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 546,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"transcript": "ENST00000672818.3",
"protein_id": "ENSP00000500891.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 546,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461Cys",
"transcript": "NM_001293190.2",
"protein_id": "NP_001280119.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 536,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "NM_001407083.1",
"protein_id": "NP_001394012.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "NM_001407085.1",
"protein_id": "NP_001394014.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "ENST00000528013.6",
"protein_id": "ENSP00000433130.2",
"transcript_support_level": 5,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "NM_001293191.2",
"protein_id": "NP_001280120.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 532,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "NM_001407069.1",
"protein_id": "NP_001393998.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 532,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "NM_001407077.1",
"protein_id": "NP_001394006.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 532,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "ENST00000435155.2",
"protein_id": "ENSP00000403655.2",
"transcript_support_level": 5,
"aa_start": 457,
"aa_end": null,
"aa_length": 532,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Cys",
"transcript": "NM_001407087.1",
"protein_id": "NP_001394016.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 528,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Cys",
"transcript": "ENST00000713751.1",
"protein_id": "ENSP00000519052.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 528,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Arg452Cys",
"transcript": "ENST00000483127.2",
"protein_id": "ENSP00000436469.2",
"transcript_support_level": 5,
"aa_start": 452,
"aa_end": null,
"aa_length": 527,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "NM_001048172.2",
"protein_id": "NP_001041637.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 522,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "NM_001407071.1",
"protein_id": "NP_001394000.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 522,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "NM_001407078.1",
"protein_id": "NP_001394007.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 522,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "NM_001407086.1",
"protein_id": "NP_001394015.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 522,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001048171.2",
"protein_id": "NP_001041636.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001048173.2",
"protein_id": "NP_001041638.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001293195.2",
"protein_id": "NP_001280124.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001407070.1",
"protein_id": "NP_001393999.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001407072.1",
"protein_id": "NP_001394001.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001407073.1",
"protein_id": "NP_001394002.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001407081.1",
"protein_id": "NP_001394010.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001407088.1",
"protein_id": "NP_001394017.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "NM_001407089.1",
"protein_id": "NP_001394018.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "ENST00000672314.2",
"protein_id": "ENSP00000500828.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "ENST00000713750.1",
"protein_id": "ENSP00000519051.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 521,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "NM_001407079.1",
"protein_id": "NP_001394008.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 508,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"transcript": "NM_001407080.1",
"protein_id": "NP_001394009.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 507,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "NM_001407075.1",
"protein_id": "NP_001394004.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397Cys",
"transcript": "ENST00000529892.6",
"protein_id": "ENSP00000432528.2",
"transcript_support_level": 5,
"aa_start": 397,
"aa_end": null,
"aa_length": 472,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"transcript": "NM_001293192.2",
"protein_id": "NP_001280121.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 429,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"transcript": "NM_001293196.2",
"protein_id": "NP_001280125.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 429,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"transcript": "NM_001407091.1",
"protein_id": "NP_001394020.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 429,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"transcript": "NM_001350650.2",
"protein_id": "NP_001337579.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 406,
"cds_start": 991,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"transcript": "NM_001350651.2",
"protein_id": "NP_001337580.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 406,
"cds_start": 991,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"transcript": "NM_001407082.1",
"protein_id": "NP_001394011.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 406,
"cds_start": 991,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318Cys",
"transcript": "ENST00000412971.6",
"protein_id": "ENSP00000410263.2",
"transcript_support_level": 3,
"aa_start": 318,
"aa_end": null,
"aa_length": 393,
"cds_start": 952,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Arg155Cys",
"transcript": "ENST00000529984.6",
"protein_id": "ENSP00000437093.2",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 230,
"cds_start": 463,
"cds_end": null,
"cds_length": 693,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Cys",
"transcript": "ENST00000488731.6",
"protein_id": "ENSP00000432330.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 216,
"cds_start": 421,
"cds_end": null,
"cds_length": 651,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "XM_011541497.4",
"protein_id": "XP_011539799.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 541,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "XM_047421191.1",
"protein_id": "XP_047277147.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 538,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "XM_047421192.1",
"protein_id": "XP_047277148.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 538,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "XM_047421193.1",
"protein_id": "XP_047277149.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 538,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "XM_011541502.3",
"protein_id": "XP_011539804.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "XM_011541503.3",
"protein_id": "XP_011539805.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "XM_017001332.2",
"protein_id": "XP_016856821.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "XM_017001333.2",
"protein_id": "XP_016856822.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "XM_047421194.1",
"protein_id": "XP_047277150.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Arg452Cys",
"transcript": "XM_047421197.1",
"protein_id": "XP_047277153.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 527,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 3421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Arg452Cys",
"transcript": "XM_047421198.1",
"protein_id": "XP_047277154.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 527,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1345C>T",
"hgvs_p": "p.Arg449Cys",
"transcript": "XM_047421199.1",
"protein_id": "XP_047277155.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 524,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"transcript": "XM_047421201.1",
"protein_id": "XP_047277157.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 507,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474Cys",
"transcript": "XM_047421202.1",
"protein_id": "XP_047277158.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 506,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Cys",
"transcript": "XM_047421203.1",
"protein_id": "XP_047277159.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 395,
"cds_start": 958,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "XM_047421204.1",
"protein_id": "XP_047277160.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 392,
"cds_start": 949,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*198C>T",
"hgvs_p": null,
"transcript": "ENST00000467459.6",
"protein_id": "ENSP00000435889.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.657C>T",
"hgvs_p": null,
"transcript": "ENST00000482094.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1336C>T",
"hgvs_p": null,
"transcript": "ENST00000485271.6",
"protein_id": "ENSP00000431264.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*665C>T",
"hgvs_p": null,
"transcript": "ENST00000533178.6",
"protein_id": "ENSP00000436430.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*665C>T",
"hgvs_p": null,
"transcript": "ENST00000672011.1",
"protein_id": "ENSP00000500418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1033C>T",
"hgvs_p": null,
"transcript": "ENST00000673134.1",
"protein_id": "ENSP00000500526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1400C>T",
"hgvs_p": null,
"transcript": "ENST00000713749.1",
"protein_id": "ENSP00000519050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1564C>T",
"hgvs_p": null,
"transcript": "NR_146882.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1413C>T",
"hgvs_p": null,
"transcript": "NR_146883.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1560C>T",
"hgvs_p": null,
"transcript": "NR_176269.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1423C>T",
"hgvs_p": null,
"transcript": "NR_176271.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1487C>T",
"hgvs_p": null,
"transcript": "NR_176272.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1445C>T",
"hgvs_p": null,
"transcript": "NR_176273.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.1500C>T",
"hgvs_p": null,
"transcript": "NR_176274.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*198C>T",
"hgvs_p": null,
"transcript": "ENST00000467459.6",
"protein_id": "ENSP00000435889.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*665C>T",
"hgvs_p": null,
"transcript": "ENST00000533178.6",
"protein_id": "ENSP00000436430.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*665C>T",
"hgvs_p": null,
"transcript": "ENST00000672011.1",
"protein_id": "ENSP00000500418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1033C>T",
"hgvs_p": null,
"transcript": "ENST00000673134.1",
"protein_id": "ENSP00000500526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1400C>T",
"hgvs_p": null,
"transcript": "ENST00000713749.1",
"protein_id": "ENSP00000519050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.116-1801C>T",
"hgvs_p": null,
"transcript": "ENST00000531105.5",
"protein_id": "ENSP00000431292.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*1562C>T",
"hgvs_p": null,
"transcript": "ENST00000672593.1",
"protein_id": "ENSP00000500455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"dbsnp": "rs200229669",
"frequency_reference_population": 0.00005328007,
"hom_count_reference_population": 0,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.0000547238,
"gnomad_genomes_af": 0.0000394156,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8459987640380859,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.546,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.833,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.16,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000456914.7",
"gene_symbol": "MUTYH",
"hgnc_id": 7527,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000671898.1",
"gene_symbol": "ENSG00000288208",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1924C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Carcinoma of colon,Familial adenomatous polyposis 2,Hereditary cancer-predisposing syndrome,Neoplasm of stomach,Pilomatrixoma,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:10",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2|Carcinoma of colon|Pilomatrixoma;Neoplasm of stomach;Familial adenomatous polyposis 2|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}