← 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: 18-50273799-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50273799&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50273799,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001323942.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_015846.4",
"protein_id": "NP_056671.2",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269468.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015846.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000269468.10",
"protein_id": "ENSP00000269468.5",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015846.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269468.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000590208.5",
"protein_id": "ENSP00000468785.1",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 655,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590208.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000588937.5",
"protein_id": "ENSP00000467763.1",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 586,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588937.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354His",
"transcript": "ENST00000585672.5",
"protein_id": "ENSP00000466092.1",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 567,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585672.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "ENST00000353909.7",
"protein_id": "ENSP00000269469.5",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 556,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353909.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000339998.10",
"protein_id": "ENSP00000339546.5",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 550,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339998.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000347968.7",
"protein_id": "ENSP00000285102.5",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347968.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000591535.5",
"protein_id": "ENSP00000465923.1",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 536,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591535.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000398488.5",
"protein_id": "ENSP00000381502.1",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 503,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398488.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248His",
"transcript": "ENST00000592060.5",
"protein_id": "ENSP00000467606.1",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 415,
"cds_start": 743,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592060.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001323942.2",
"protein_id": "NP_001310871.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 680,
"cds_start": 1286,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323942.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000705655.1",
"protein_id": "ENSP00000516153.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 680,
"cds_start": 1286,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705655.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001323947.2",
"protein_id": "NP_001310876.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 665,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323947.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388145.1",
"protein_id": "NP_001375074.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 662,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388145.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001399879.1",
"protein_id": "NP_001386808.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 657,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399879.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "NM_001399880.1",
"protein_id": "NP_001386809.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 656,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399880.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001204136.2",
"protein_id": "NP_001191065.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 655,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204136.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399881.1",
"protein_id": "NP_001386810.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 654,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399881.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399882.1",
"protein_id": "NP_001386811.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 651,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399882.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388146.1",
"protein_id": "NP_001375075.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 647,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388146.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388147.1",
"protein_id": "NP_001375076.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 642,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388147.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "NM_001399883.1",
"protein_id": "NP_001386812.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399883.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001388148.1",
"protein_id": "NP_001375077.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 640,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388148.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001388149.1",
"protein_id": "NP_001375078.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 637,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388149.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399884.1",
"protein_id": "NP_001386813.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 636,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399884.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399885.1",
"protein_id": "NP_001386814.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 636,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399885.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388150.1",
"protein_id": "NP_001375079.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 634,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388150.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001204137.2",
"protein_id": "NP_001191066.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204137.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388140.1",
"protein_id": "NP_001375069.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388140.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001399886.1",
"protein_id": "NP_001386815.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399886.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "NM_001399887.1",
"protein_id": "NP_001386816.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 630,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399887.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000457839.6",
"protein_id": "ENSP00000405268.2",
"transcript_support_level": 2,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457839.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000585595.5",
"protein_id": "ENSP00000468430.1",
"transcript_support_level": 2,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585595.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000865889.1",
"protein_id": "ENSP00000535948.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865889.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000865913.1",
"protein_id": "ENSP00000535972.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865913.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919205.1",
"protein_id": "ENSP00000589264.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919205.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919207.1",
"protein_id": "ENSP00000589266.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919207.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919220.1",
"protein_id": "ENSP00000589279.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 630,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919220.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "NM_001204138.2",
"protein_id": "NP_001191067.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204138.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "NM_001388141.1",
"protein_id": "NP_001375070.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388141.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "NM_001399888.1",
"protein_id": "NP_001386817.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399888.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "ENST00000865926.1",
"protein_id": "ENSP00000535985.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865926.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "ENST00000919217.1",
"protein_id": "ENSP00000589276.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919217.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "ENST00000919221.1",
"protein_id": "ENSP00000589280.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919221.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "ENST00000919226.1",
"protein_id": "ENSP00000589285.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919226.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001399889.1",
"protein_id": "NP_001386818.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 627,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399889.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001388151.1",
"protein_id": "NP_001375080.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 624,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388151.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399890.1",
"protein_id": "NP_001386819.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 622,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399890.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000950629.1",
"protein_id": "ENSP00000620688.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 622,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950629.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001399891.1",
"protein_id": "NP_001386820.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 619,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399891.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388152.1",
"protein_id": "NP_001375081.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 616,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388152.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399892.1",
"protein_id": "NP_001386821.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 616,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399892.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388153.1",
"protein_id": "NP_001375082.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 615,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388153.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388154.1",
"protein_id": "NP_001375083.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 615,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388154.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000865904.1",
"protein_id": "ENSP00000535963.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 615,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865904.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000865914.1",
"protein_id": "ENSP00000535973.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 615,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865914.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919210.1",
"protein_id": "ENSP00000589269.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 615,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919210.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919234.1",
"protein_id": "ENSP00000589293.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 615,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919234.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "NM_001399893.1",
"protein_id": "NP_001386822.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 614,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399893.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919236.1",
"protein_id": "ENSP00000589295.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 614,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919236.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "ENST00000919237.1",
"protein_id": "ENSP00000589296.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 614,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919237.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001399894.1",
"protein_id": "NP_001386823.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 611,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399894.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001388155.1",
"protein_id": "NP_001375084.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 609,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388155.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001399895.1",
"protein_id": "NP_001386824.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 607,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399895.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001399896.1",
"protein_id": "NP_001386825.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 607,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399896.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001388156.1",
"protein_id": "NP_001375085.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 606,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388156.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001204139.2",
"protein_id": "NP_001191068.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204139.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001388138.1",
"protein_id": "NP_001375067.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388138.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399897.1",
"protein_id": "NP_001386826.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399897.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399898.1",
"protein_id": "NP_001386827.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399898.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000382948.9",
"protein_id": "ENSP00000372407.5",
"transcript_support_level": 2,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382948.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000591416.5",
"protein_id": "ENSP00000467017.1",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591416.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865888.1",
"protein_id": "ENSP00000535947.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865888.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865895.1",
"protein_id": "ENSP00000535954.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865895.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865900.1",
"protein_id": "ENSP00000535959.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865900.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865907.1",
"protein_id": "ENSP00000535966.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865907.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865916.1",
"protein_id": "ENSP00000535975.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865916.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865918.1",
"protein_id": "ENSP00000535977.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865918.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865924.1",
"protein_id": "ENSP00000535983.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865924.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000919230.1",
"protein_id": "ENSP00000589289.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919230.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000919240.1",
"protein_id": "ENSP00000589299.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919240.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000950621.1",
"protein_id": "ENSP00000620680.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950621.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000950630.1",
"protein_id": "ENSP00000620689.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950630.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399899.1",
"protein_id": "NP_001386828.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399899.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399900.1",
"protein_id": "NP_001386829.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399900.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399901.1",
"protein_id": "NP_001386830.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399901.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399902.1",
"protein_id": "NP_001386831.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399902.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865896.1",
"protein_id": "ENSP00000535955.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865896.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865898.1",
"protein_id": "ENSP00000535957.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865898.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865903.1",
"protein_id": "ENSP00000535962.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865903.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865908.1",
"protein_id": "ENSP00000535967.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865908.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865921.1",
"protein_id": "ENSP00000535980.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865921.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865932.1",
"protein_id": "ENSP00000535991.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865932.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000950596.1",
"protein_id": "ENSP00000620655.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950596.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000950603.1",
"protein_id": "ENSP00000620662.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950603.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000950612.1",
"protein_id": "ENSP00000620671.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 604,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950612.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001323951.2",
"protein_id": "NP_001310880.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 602,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323951.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399903.1",
"protein_id": "NP_001386832.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 601,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399903.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001388157.1",
"protein_id": "NP_001375086.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 599,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388157.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "NM_001399904.1",
"protein_id": "NP_001386833.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 598,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399904.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399905.1",
"protein_id": "NP_001386834.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 597,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399905.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000950605.1",
"protein_id": "ENSP00000620664.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 597,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950605.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388158.1",
"protein_id": "NP_001375087.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 596,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388158.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399906.1",
"protein_id": "NP_001386835.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 596,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399906.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399907.1",
"protein_id": "NP_001386836.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 595,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399907.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "NM_001399908.1",
"protein_id": "NP_001386837.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 594,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399908.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "NM_001399909.1",
"protein_id": "NP_001386838.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 592,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399909.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399910.1",
"protein_id": "NP_001386839.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 591,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399910.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399911.1",
"protein_id": "NP_001386840.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399911.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399912.1",
"protein_id": "NP_001386841.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399912.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399913.1",
"protein_id": "NP_001386842.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399913.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399914.1",
"protein_id": "NP_001386843.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399914.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865890.1",
"protein_id": "ENSP00000535949.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865890.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865891.1",
"protein_id": "ENSP00000535950.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865891.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865894.1",
"protein_id": "ENSP00000535953.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865894.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865902.1",
"protein_id": "ENSP00000535961.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865902.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865919.1",
"protein_id": "ENSP00000535978.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865919.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000919213.1",
"protein_id": "ENSP00000589272.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919213.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000950595.1",
"protein_id": "ENSP00000620654.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950595.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001323950.2",
"protein_id": "NP_001310879.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "NM_001323950.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_001399915.1",
"protein_id": "NP_001386844.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "NM_001399915.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865886.1",
"protein_id": "ENSP00000535945.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "ENST00000865886.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865912.1",
"protein_id": "ENSP00000535971.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "ENST00000865912.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865931.1",
"protein_id": "ENSP00000535990.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "ENST00000865931.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000950597.1",
"protein_id": "ENSP00000620656.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "ENST00000950597.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000950598.1",
"protein_id": "ENSP00000620657.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "ENST00000950598.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Arg351His",
"transcript": "NM_001399916.1",
"protein_id": "NP_001386845.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 587,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399916.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001388139.1",
"protein_id": "NP_001375068.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 586,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388139.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "NM_015845.4",
"protein_id": "NP_056670.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 586,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015845.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000269471.9",
"protein_id": "ENSP00000269471.5",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 586,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269471.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "NM_001399917.1",
"protein_id": "NP_001386846.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 585,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399917.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388159.1",
"protein_id": "NP_001375088.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388159.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001388160.1",
"protein_id": "NP_001375089.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388160.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399918.1",
"protein_id": "NP_001386847.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 584,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399918.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000865906.1",
"protein_id": "ENSP00000535965.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865906.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919209.1",
"protein_id": "ENSP00000589268.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919209.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919231.1",
"protein_id": "ENSP00000589290.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919231.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000919239.1",
"protein_id": "ENSP00000589298.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919239.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000950617.1",
"protein_id": "ENSP00000620676.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950617.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001399919.1",
"protein_id": "NP_001386848.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 583,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399919.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "ENST00000919235.1",
"protein_id": "ENSP00000589294.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 583,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919235.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "NM_001399920.1",
"protein_id": "NP_001386849.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 582,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399920.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000919238.1",
"protein_id": "ENSP00000589297.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 582,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919238.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000950619.1",
"protein_id": "ENSP00000620678.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 582,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950619.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001388161.1",
"protein_id": "NP_001375090.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 581,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388161.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399921.1",
"protein_id": "NP_001386850.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 581,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399921.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "NM_001399922.1",
"protein_id": "NP_001386851.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 581,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399922.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "ENST00000919228.1",
"protein_id": "ENSP00000589287.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 581,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919228.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000865905.1",
"protein_id": "ENSP00000535964.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 580,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865905.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000865930.1",
"protein_id": "ENSP00000535989.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 580,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865930.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000950594.1",
"protein_id": "ENSP00000620653.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 580,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950594.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"transcript": "ENST00000919223.1",
"protein_id": "ENSP00000589282.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 579,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919223.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"transcript": "ENST00000950606.1",
"protein_id": "ENSP00000620665.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 579,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950606.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001323954.2",
"protein_id": "NP_001310883.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 576,
"cds_start": 974,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323954.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000950618.1",
"protein_id": "ENSP00000620677.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 576,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950618.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Arg324His",
"transcript": "NM_001399923.1",
"protein_id": "NP_001386852.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 575,
"cds_start": 971,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399923.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001204140.2",
"protein_id": "NP_001191069.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204140.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001388142.1",
"protein_id": "NP_001375071.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388142.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001388143.1",
"protein_id": "NP_001375072.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388143.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"transcript": "NM_001399924.1",
"protein_id": "NP_001386853.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 574,
"cds_start": 968,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399924.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001399925.1",
"protein_id": "NP_001386854.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399925.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000865915.1",
"protein_id": "ENSP00000535974.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865915.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000865925.1",
"protein_id": "ENSP00000535984.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865925.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919208.1",
"protein_id": "ENSP00000589267.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919208.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919214.1",
"protein_id": "ENSP00000589273.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919214.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919215.1",
"protein_id": "ENSP00000589274.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919215.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919218.1",
"protein_id": "ENSP00000589277.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919218.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919227.1",
"protein_id": "ENSP00000589286.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 574,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919227.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "NM_001399926.1",
"protein_id": "NP_001386855.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 573,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399926.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001399927.1",
"protein_id": "NP_001386856.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 573,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399927.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372His",
"transcript": "ENST00000950607.1",
"protein_id": "ENSP00000620666.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 573,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950607.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000950625.1",
"protein_id": "ENSP00000620684.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 572,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950625.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001388162.1",
"protein_id": "NP_001375091.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 571,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388162.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354His",
"transcript": "NM_001204141.2",
"protein_id": "NP_001191070.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 567,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204141.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000950628.1",
"protein_id": "ENSP00000620687.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 567,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950628.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399928.1",
"protein_id": "NP_001386857.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 566,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399928.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "NM_001399929.1",
"protein_id": "NP_001386858.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 566,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399929.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000398495.6",
"protein_id": "ENSP00000381508.2",
"transcript_support_level": 5,
"aa_start": 373,
"aa_end": null,
"aa_length": 566,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398495.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919222.1",
"protein_id": "ENSP00000589281.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 566,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919222.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "NM_001399930.1",
"protein_id": "NP_001386859.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1136,
"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": "NM_001399930.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000865901.1",
"protein_id": "ENSP00000535960.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1136,
"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": "ENST00000865901.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000865922.1",
"protein_id": "ENSP00000535981.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1136,
"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": "ENST00000865922.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000950601.1",
"protein_id": "ENSP00000620660.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1136,
"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": "ENST00000950601.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001399931.1",
"protein_id": "NP_001386860.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 563,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399931.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001399932.1",
"protein_id": "NP_001386861.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 561,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399932.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001399933.1",
"protein_id": "NP_001386862.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 560,
"cds_start": 1118,
"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": "NM_001399933.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001388163.1",
"protein_id": "NP_001375092.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388163.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001388164.1",
"protein_id": "NP_001375093.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 559,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388164.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001399934.1",
"protein_id": "NP_001386863.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399934.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865887.1",
"protein_id": "ENSP00000535946.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865887.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865892.1",
"protein_id": "ENSP00000535951.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865892.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865893.1",
"protein_id": "ENSP00000535952.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865893.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865897.1",
"protein_id": "ENSP00000535956.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865897.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000865909.1",
"protein_id": "ENSP00000535968.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865909.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919211.1",
"protein_id": "ENSP00000589270.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 559,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919211.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919212.1",
"protein_id": "ENSP00000589271.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 559,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919212.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399935.1",
"protein_id": "NP_001386864.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 558,
"cds_start": 974,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399935.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000865910.1",
"protein_id": "ENSP00000535969.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 558,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865910.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000950626.1",
"protein_id": "ENSP00000620685.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 558,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950626.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000950627.1",
"protein_id": "ENSP00000620686.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 558,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950627.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399936.1",
"protein_id": "NP_001386865.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 557,
"cds_start": 974,
"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": "NM_001399936.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "NM_015847.4",
"protein_id": "NP_056723.2",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 556,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015847.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "ENST00000919216.1",
"protein_id": "ENSP00000589275.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 556,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919216.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399937.1",
"protein_id": "NP_001386866.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 553,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399937.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "NM_001399938.1",
"protein_id": "NP_001386867.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 553,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399938.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001399939.1",
"protein_id": "NP_001386868.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 551,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399939.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001399940.1",
"protein_id": "NP_001386869.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 551,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399940.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000919224.1",
"protein_id": "ENSP00000589283.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 551,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919224.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000950613.1",
"protein_id": "ENSP00000620672.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 551,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950613.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "NM_001204142.2",
"protein_id": "NP_001191071.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 550,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204142.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399941.1",
"protein_id": "NP_001386870.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399941.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399942.1",
"protein_id": "NP_001386871.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399942.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_015844.3",
"protein_id": "NP_056669.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015844.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000398493.5",
"protein_id": "ENSP00000381506.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398493.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000919206.1",
"protein_id": "ENSP00000589265.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919206.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000950610.1",
"protein_id": "ENSP00000620669.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950610.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "NM_001399943.1",
"protein_id": "NP_001386872.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 548,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399943.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "ENST00000865928.1",
"protein_id": "ENSP00000535987.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 548,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865928.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001388165.1",
"protein_id": "NP_001375094.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 546,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388165.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "NM_001399944.1",
"protein_id": "NP_001386873.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 541,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399944.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "NM_001388166.1",
"protein_id": "NP_001375095.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 540,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388166.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399945.1",
"protein_id": "NP_001386874.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 540,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399945.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001399946.1",
"protein_id": "NP_001386875.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 537,
"cds_start": 1049,
"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_001399946.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "NM_001204151.3",
"protein_id": "NP_001191080.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 536,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204151.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000919229.1",
"protein_id": "ENSP00000589288.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 536,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919229.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000950602.1",
"protein_id": "ENSP00000620661.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 536,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950602.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001204143.2",
"protein_id": "NP_001191072.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 535,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204143.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001388144.1",
"protein_id": "NP_001375073.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 535,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388144.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000587605.5",
"protein_id": "ENSP00000468042.1",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 535,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587605.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "ENST00000950608.1",
"protein_id": "ENSP00000620667.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 535,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950608.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399947.1",
"protein_id": "NP_001386876.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 534,
"cds_start": 1043,
"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_001399947.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399948.1",
"protein_id": "NP_001386877.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 534,
"cds_start": 1043,
"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_001399948.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000865899.1",
"protein_id": "ENSP00000535958.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 534,
"cds_start": 1043,
"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": "ENST00000865899.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000865911.1",
"protein_id": "ENSP00000535970.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 534,
"cds_start": 1043,
"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": "ENST00000865911.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000950604.1",
"protein_id": "ENSP00000620663.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 534,
"cds_start": 1136,
"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": "ENST00000950604.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "ENST00000865923.1",
"protein_id": "ENSP00000535982.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 533,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865923.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001399949.1",
"protein_id": "NP_001386878.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 529,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399949.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919219.1",
"protein_id": "ENSP00000589278.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 528,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919219.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "ENST00000919225.1",
"protein_id": "ENSP00000589284.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 528,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919225.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399950.1",
"protein_id": "NP_001386879.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 526,
"cds_start": 974,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399950.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399952.1",
"protein_id": "NP_001386881.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 525,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399952.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Arg324His",
"transcript": "ENST00000919232.1",
"protein_id": "ENSP00000589291.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 525,
"cds_start": 971,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919232.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"transcript": "NM_001323952.2",
"protein_id": "NP_001310881.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 524,
"cds_start": 968,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323952.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"transcript": "ENST00000865929.1",
"protein_id": "ENSP00000535988.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 524,
"cds_start": 968,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865929.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"transcript": "ENST00000950614.1",
"protein_id": "ENSP00000620673.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 524,
"cds_start": 968,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950614.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399953.1",
"protein_id": "NP_001386882.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 517,
"cds_start": 974,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399953.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001388167.1",
"protein_id": "NP_001375096.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 515,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388167.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399954.1",
"protein_id": "NP_001386883.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 512,
"cds_start": 974,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399954.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301His",
"transcript": "NM_001399955.1",
"protein_id": "NP_001386884.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 506,
"cds_start": 902,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399955.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001399956.1",
"protein_id": "NP_001386885.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 505,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399956.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399957.1",
"protein_id": "NP_001386886.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 503,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399957.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_002384.3",
"protein_id": "NP_002375.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 503,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002384.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000865920.1",
"protein_id": "ENSP00000535979.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 502,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865920.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"transcript": "ENST00000950624.1",
"protein_id": "ENSP00000620683.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 500,
"cds_start": 896,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950624.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001399958.1",
"protein_id": "NP_001386887.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 494,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399958.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Arg260His",
"transcript": "NM_001399959.1",
"protein_id": "NP_001386888.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 493,
"cds_start": 779,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399959.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399960.1",
"protein_id": "NP_001386889.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 492,
"cds_start": 974,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399960.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"transcript": "NM_001399961.1",
"protein_id": "NP_001386890.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 489,
"cds_start": 827,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399961.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235His",
"transcript": "NM_001399962.1",
"protein_id": "NP_001386891.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 486,
"cds_start": 704,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399962.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"transcript": "ENST00000950600.1",
"protein_id": "ENSP00000620659.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 485,
"cds_start": 896,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950600.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399963.1",
"protein_id": "NP_001386892.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 480,
"cds_start": 974,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399963.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "NM_001399964.1",
"protein_id": "NP_001386893.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 480,
"cds_start": 974,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399964.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Arg324His",
"transcript": "ENST00000950616.1",
"protein_id": "ENSP00000620675.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 479,
"cds_start": 971,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950616.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"transcript": "ENST00000950609.1",
"protein_id": "ENSP00000620668.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 478,
"cds_start": 968,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950609.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Arg260His",
"transcript": "NM_001323949.2",
"protein_id": "NP_001310878.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 461,
"cds_start": 779,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323949.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000950611.1",
"protein_id": "ENSP00000620670.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 455,
"cds_start": 899,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950611.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"transcript": "ENST00000865917.1",
"protein_id": "ENSP00000535976.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 454,
"cds_start": 896,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865917.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"transcript": "ENST00000865927.1",
"protein_id": "ENSP00000535986.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 454,
"cds_start": 896,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865927.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Arg259His",
"transcript": "NM_001399965.1",
"protein_id": "NP_001386894.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 445,
"cds_start": 776,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399965.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235His",
"transcript": "NM_001399966.1",
"protein_id": "NP_001386895.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 440,
"cds_start": 704,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399966.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235His",
"transcript": "NM_001399967.1",
"protein_id": "NP_001386896.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 436,
"cds_start": 704,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399967.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235His",
"transcript": "NM_001399968.1",
"protein_id": "NP_001386897.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 436,
"cds_start": 704,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399968.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235His",
"transcript": "NM_001399970.1",
"protein_id": "NP_001386899.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 436,
"cds_start": 704,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399970.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "NM_001399971.1",
"protein_id": "NP_001386900.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 412,
"cds_start": 536,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399971.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Arg156His",
"transcript": "NM_001399973.1",
"protein_id": "NP_001386902.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 389,
"cds_start": 467,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399973.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "NM_001399974.1",
"protein_id": "NP_001386903.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 380,
"cds_start": 536,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399974.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212His",
"transcript": "NM_001323953.2",
"protein_id": "NP_001310882.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 379,
"cds_start": 635,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323953.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "NM_001399975.1",
"protein_id": "NP_001386904.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 371,
"cds_start": 536,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399975.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "NM_001399976.1",
"protein_id": "NP_001386905.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 365,
"cds_start": 536,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399976.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000589733.1",
"protein_id": "ENSP00000466429.1",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 254,
"cds_start": 575,
"cds_end": null,
"cds_length": 766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589733.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "ENST00000589541.5",
"protein_id": "ENSP00000466806.1",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 240,
"cds_start": 161,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589541.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "XM_047437510.1",
"protein_id": "XP_047293466.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 679,
"cds_start": 1283,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437510.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "XM_047437511.1",
"protein_id": "XP_047293467.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 629,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437511.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "XM_017025757.3",
"protein_id": "XP_016881246.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 615,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025757.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "XM_047437512.1",
"protein_id": "XP_047293468.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 614,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437512.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "XM_005258271.4",
"protein_id": "XP_005258328.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 605,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258271.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "XM_047437513.1",
"protein_id": "XP_047293469.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 604,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437513.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "XM_047437514.1",
"protein_id": "XP_047293470.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 601,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437514.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "XM_047437515.1",
"protein_id": "XP_047293471.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 591,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437515.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "XM_047437516.1",
"protein_id": "XP_047293472.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 590,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437516.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "XM_047437517.1",
"protein_id": "XP_047293473.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 589,
"cds_start": 1208,
"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": "XM_047437517.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "XM_011526002.3",
"protein_id": "XP_011524304.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526002.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "XM_047437518.1",
"protein_id": "XP_047293474.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 578,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437518.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "XM_011526007.3",
"protein_id": "XP_011524309.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 559,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526007.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "XM_024451180.2",
"protein_id": "XP_024306948.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 559,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451180.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "XM_017025770.3",
"protein_id": "XP_016881259.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 549,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025770.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "XM_047437519.1",
"protein_id": "XP_047293475.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 534,
"cds_start": 1043,
"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_047437519.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "XM_047437520.1",
"protein_id": "XP_047293476.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 528,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437520.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "XM_017025776.3",
"protein_id": "XP_016881265.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 503,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025776.3"
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1146+387G>A",
"hgvs_p": null,
"transcript": "ENST00000950599.1",
"protein_id": "ENSP00000620658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950599.1"
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1146+387G>A",
"hgvs_p": null,
"transcript": "ENST00000950620.1",
"protein_id": "ENSP00000620679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950620.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1146+387G>A",
"hgvs_p": null,
"transcript": "ENST00000950623.1",
"protein_id": "ENSP00000620682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950623.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1054-844G>A",
"hgvs_p": null,
"transcript": "ENST00000919233.1",
"protein_id": "ENSP00000589292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919233.1"
},
{
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.979-844G>A",
"hgvs_p": null,
"transcript": "ENST00000950622.1",
"protein_id": "ENSP00000620681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950622.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.910-844G>A",
"hgvs_p": null,
"transcript": "ENST00000950615.1",
"protein_id": "ENSP00000620674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950615.1"
}
],
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"dbsnp": "rs769115388",
"frequency_reference_population": 0.00003779936,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000396835,
"gnomad_genomes_af": 0.0000197086,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03982225060462952,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
"alphamissense_score": 0.0666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.008,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001323942.2",
"gene_symbol": "MBD1",
"hgnc_id": 6916,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}