← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-228106828-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228106828&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228106828,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181462.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_181463.3",
"protein_id": "NP_852128.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336520.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181463.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000336520.8",
"protein_id": "ENSP00000337342.3",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181463.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336520.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000366738.5",
"protein_id": "ENSP00000355699.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366738.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366735.5",
"protein_id": "ENSP00000355696.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366735.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366746.7",
"protein_id": "ENSP00000355707.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366746.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366747.7",
"protein_id": "ENSP00000355708.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366747.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "NM_181462.3",
"protein_id": "NP_852127.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181462.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000430433.5",
"protein_id": "ENSP00000403614.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430433.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000877035.1",
"protein_id": "ENSP00000547094.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877035.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000877036.1",
"protein_id": "ENSP00000547095.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877036.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000877040.1",
"protein_id": "ENSP00000547099.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877040.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000877055.1",
"protein_id": "ENSP00000547114.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877055.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000927950.1",
"protein_id": "ENSP00000598009.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927950.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000927953.1",
"protein_id": "ENSP00000598012.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927953.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000927958.1",
"protein_id": "ENSP00000598017.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927958.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000927968.1",
"protein_id": "ENSP00000598027.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927968.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000927982.1",
"protein_id": "ENSP00000598041.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927982.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"transcript": "ENST00000957207.1",
"protein_id": "ENSP00000627266.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 164,
"cds_start": 427,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957207.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_001321284.2",
"protein_id": "NP_001308213.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321284.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_181441.3",
"protein_id": "NP_852106.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181441.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_181454.3",
"protein_id": "NP_852119.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181454.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_181455.3",
"protein_id": "NP_852120.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181455.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_181456.3",
"protein_id": "NP_852121.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181456.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_181464.3",
"protein_id": "NP_852129.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181464.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "NM_181465.3",
"protein_id": "NP_852130.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181465.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000295008.8",
"protein_id": "ENSP00000295008.4",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295008.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000336300.9",
"protein_id": "ENSP00000337361.5",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336300.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000348259.9",
"protein_id": "ENSP00000338189.5",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348259.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366733.5",
"protein_id": "ENSP00000355694.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366733.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366734.5",
"protein_id": "ENSP00000355695.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366734.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366736.5",
"protein_id": "ENSP00000355697.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366736.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366739.5",
"protein_id": "ENSP00000355700.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366739.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366740.5",
"protein_id": "ENSP00000355701.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366740.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366741.5",
"protein_id": "ENSP00000355702.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366741.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366742.5",
"protein_id": "ENSP00000355703.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366742.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000366744.5",
"protein_id": "ENSP00000355705.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366744.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000391867.8",
"protein_id": "ENSP00000375740.3",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391867.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877018.1",
"protein_id": "ENSP00000547077.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877018.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877019.1",
"protein_id": "ENSP00000547078.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877019.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877020.1",
"protein_id": "ENSP00000547079.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877020.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877021.1",
"protein_id": "ENSP00000547080.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877021.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877022.1",
"protein_id": "ENSP00000547081.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877022.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877023.1",
"protein_id": "ENSP00000547082.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877023.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877024.1",
"protein_id": "ENSP00000547083.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877024.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877025.1",
"protein_id": "ENSP00000547084.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877025.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877026.1",
"protein_id": "ENSP00000547085.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877026.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877027.1",
"protein_id": "ENSP00000547086.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877027.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877028.1",
"protein_id": "ENSP00000547087.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877028.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877029.1",
"protein_id": "ENSP00000547088.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877029.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877030.1",
"protein_id": "ENSP00000547089.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877030.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877031.1",
"protein_id": "ENSP00000547090.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877031.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877032.1",
"protein_id": "ENSP00000547091.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877032.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877033.1",
"protein_id": "ENSP00000547092.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877033.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877034.1",
"protein_id": "ENSP00000547093.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877034.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877037.1",
"protein_id": "ENSP00000547096.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877037.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877038.1",
"protein_id": "ENSP00000547097.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877038.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877039.1",
"protein_id": "ENSP00000547098.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877039.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877041.1",
"protein_id": "ENSP00000547100.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877041.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877042.1",
"protein_id": "ENSP00000547101.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877042.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877043.1",
"protein_id": "ENSP00000547102.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877043.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877044.1",
"protein_id": "ENSP00000547103.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877044.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877045.1",
"protein_id": "ENSP00000547104.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877045.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877046.1",
"protein_id": "ENSP00000547105.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877046.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877047.1",
"protein_id": "ENSP00000547106.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877047.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877048.1",
"protein_id": "ENSP00000547107.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877048.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877049.1",
"protein_id": "ENSP00000547108.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877049.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877050.1",
"protein_id": "ENSP00000547109.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877050.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877051.1",
"protein_id": "ENSP00000547110.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877051.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877052.1",
"protein_id": "ENSP00000547111.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877052.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877053.1",
"protein_id": "ENSP00000547112.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877053.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877054.1",
"protein_id": "ENSP00000547113.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877054.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877056.1",
"protein_id": "ENSP00000547115.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877056.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000877057.1",
"protein_id": "ENSP00000547116.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877057.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927937.1",
"protein_id": "ENSP00000597996.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927937.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927938.1",
"protein_id": "ENSP00000597997.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927938.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927939.1",
"protein_id": "ENSP00000597998.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927939.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927940.1",
"protein_id": "ENSP00000597999.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927940.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927941.1",
"protein_id": "ENSP00000598000.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927941.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927942.1",
"protein_id": "ENSP00000598001.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927942.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927943.1",
"protein_id": "ENSP00000598002.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927943.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927944.1",
"protein_id": "ENSP00000598003.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927944.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927945.1",
"protein_id": "ENSP00000598004.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927945.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927946.1",
"protein_id": "ENSP00000598005.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927946.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927947.1",
"protein_id": "ENSP00000598006.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927947.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927948.1",
"protein_id": "ENSP00000598007.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927948.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927949.1",
"protein_id": "ENSP00000598008.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927949.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927951.1",
"protein_id": "ENSP00000598010.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927951.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927952.1",
"protein_id": "ENSP00000598011.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927952.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927954.1",
"protein_id": "ENSP00000598013.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927954.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927955.1",
"protein_id": "ENSP00000598014.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927955.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927956.1",
"protein_id": "ENSP00000598015.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927956.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927957.1",
"protein_id": "ENSP00000598016.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927957.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927959.1",
"protein_id": "ENSP00000598018.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927959.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927960.1",
"protein_id": "ENSP00000598019.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927960.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927961.1",
"protein_id": "ENSP00000598020.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927961.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927962.1",
"protein_id": "ENSP00000598021.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927962.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927963.1",
"protein_id": "ENSP00000598022.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927963.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927964.1",
"protein_id": "ENSP00000598023.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927964.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927965.1",
"protein_id": "ENSP00000598024.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927965.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927966.1",
"protein_id": "ENSP00000598025.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927966.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927967.1",
"protein_id": "ENSP00000598026.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927967.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927969.1",
"protein_id": "ENSP00000598028.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927969.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927970.1",
"protein_id": "ENSP00000598029.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927970.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927971.1",
"protein_id": "ENSP00000598030.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927971.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927972.1",
"protein_id": "ENSP00000598031.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927972.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927973.1",
"protein_id": "ENSP00000598032.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927973.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927974.1",
"protein_id": "ENSP00000598033.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927974.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927975.1",
"protein_id": "ENSP00000598034.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927975.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927976.1",
"protein_id": "ENSP00000598035.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927976.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927977.1",
"protein_id": "ENSP00000598036.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927977.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927978.1",
"protein_id": "ENSP00000598037.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927978.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927979.1",
"protein_id": "ENSP00000598038.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927979.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927980.1",
"protein_id": "ENSP00000598039.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927980.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000927981.1",
"protein_id": "ENSP00000598040.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927981.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000957205.1",
"protein_id": "ENSP00000627264.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957205.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "ENST00000957206.1",
"protein_id": "ENSP00000627265.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957206.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Glu34Lys",
"transcript": "ENST00000366731.9",
"protein_id": "ENSP00000355692.6",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 55,
"cds_start": 100,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366731.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Glu34Lys",
"transcript": "ENST00000366732.5",
"protein_id": "ENSP00000355693.2",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 55,
"cds_start": 100,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366732.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Glu34Lys",
"transcript": "ENST00000459783.5",
"protein_id": "ENSP00000482290.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 55,
"cds_start": 100,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459783.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_005273059.4",
"protein_id": "XP_005273116.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273059.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_005273061.6",
"protein_id": "XP_005273118.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273061.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_005273062.4",
"protein_id": "XP_005273119.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273062.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_005273063.6",
"protein_id": "XP_005273120.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273063.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_011544095.4",
"protein_id": "XP_011542397.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544095.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446079.1",
"protein_id": "XP_047302035.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446079.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446095.1",
"protein_id": "XP_047302051.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446095.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446096.1",
"protein_id": "XP_047302052.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446096.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446098.1",
"protein_id": "XP_047302054.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446098.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446106.1",
"protein_id": "XP_047302062.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446106.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446113.1",
"protein_id": "XP_047302069.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446113.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446123.1",
"protein_id": "XP_047302079.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446123.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446133.1",
"protein_id": "XP_047302089.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446133.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446137.1",
"protein_id": "XP_047302093.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446137.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446139.1",
"protein_id": "XP_047302095.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446139.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Glu107Lys",
"transcript": "XM_047446143.1",
"protein_id": "XP_047302099.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 128,
"cds_start": 319,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446143.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "n.699G>A",
"hgvs_p": null,
"transcript": "ENST00000465268.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299474",
"gene_hgnc_id": null,
"hgvs_c": "n.310C>T",
"hgvs_p": null,
"transcript": "ENST00000763761.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000763761.1"
}
],
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"dbsnp": "rs375373877",
"frequency_reference_population": 0.00003098097,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000301025,
"gnomad_genomes_af": 0.0000394166,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04527440667152405,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0803,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.05,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_181462.3",
"gene_symbol": "MRPL55",
"hgnc_id": 16686,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000763761.1",
"gene_symbol": "ENSG00000299474",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.310C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}