← 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: 9-13106973-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13106973&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 13106973,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001375413.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "NM_001378778.1",
"protein_id": "NP_001365707.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6555,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "ENST00000319217.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378778.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "ENST00000319217.12",
"protein_id": "ENSP00000320006.7",
"transcript_support_level": 5,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6555,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "NM_001378778.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319217.12"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6118C>G",
"hgvs_p": "p.Leu2040Val",
"transcript": "ENST00000541718.5",
"protein_id": "ENSP00000439807.1",
"transcript_support_level": 1,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2041,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 6340,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541718.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "ENST00000447879.6",
"protein_id": "ENSP00000415208.1",
"transcript_support_level": 1,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6328,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447879.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6019C>G",
"hgvs_p": "p.Leu2007Val",
"transcript": "ENST00000536827.5",
"protein_id": "ENSP00000444151.1",
"transcript_support_level": 1,
"aa_start": 2007,
"aa_end": null,
"aa_length": 2008,
"cds_start": 6019,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 6062,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536827.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6304C>G",
"hgvs_p": "p.Leu2102Val",
"transcript": "NM_001375413.1",
"protein_id": "NP_001362342.1",
"transcript_support_level": null,
"aa_start": 2102,
"aa_end": null,
"aa_length": 2103,
"cds_start": 6304,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 6727,
"cdna_end": null,
"cdna_length": 7993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375413.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6247C>G",
"hgvs_p": "p.Leu2083Val",
"transcript": "ENST00000546205.5",
"protein_id": "ENSP00000446358.1",
"transcript_support_level": 5,
"aa_start": 2083,
"aa_end": null,
"aa_length": 2084,
"cds_start": 6247,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 6312,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546205.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "NM_001330637.2",
"protein_id": "NP_001317566.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6391,
"cdna_end": null,
"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330637.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "ENST00000883518.1",
"protein_id": "ENSP00000553577.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6333,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883518.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "ENST00000883519.1",
"protein_id": "ENSP00000553578.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6362,
"cdna_end": null,
"cdna_length": 6774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883519.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "ENST00000959908.1",
"protein_id": "ENSP00000629967.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6598,
"cdna_end": null,
"cdna_length": 7869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959908.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6118C>G",
"hgvs_p": "p.Leu2040Val",
"transcript": "NM_003829.5",
"protein_id": "NP_003820.2",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2041,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 6468,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003829.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6118C>G",
"hgvs_p": "p.Leu2040Val",
"transcript": "ENST00000918415.1",
"protein_id": "ENSP00000588474.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2041,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 6537,
"cdna_end": null,
"cdna_length": 7801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918415.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6118C>G",
"hgvs_p": "p.Leu2040Val",
"transcript": "ENST00000959910.1",
"protein_id": "ENSP00000629969.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2041,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 6303,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959910.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "NM_001261406.2",
"protein_id": "NP_001248335.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6456,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261406.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "NM_001375416.1",
"protein_id": "NP_001362345.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6292,
"cdna_end": null,
"cdna_length": 7558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375416.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "NM_001375417.1",
"protein_id": "NP_001362346.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6529,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375417.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "NM_001375418.1",
"protein_id": "NP_001362347.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6490,
"cdna_end": null,
"cdna_length": 7756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375418.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "ENST00000883517.1",
"protein_id": "ENSP00000553576.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6390,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883517.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "ENST00000959911.1",
"protein_id": "ENSP00000629970.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6346,
"cdna_end": null,
"cdna_length": 7609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959911.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6019C>G",
"hgvs_p": "p.Leu2007Val",
"transcript": "NM_001261407.2",
"protein_id": "NP_001248336.1",
"transcript_support_level": null,
"aa_start": 2007,
"aa_end": null,
"aa_length": 2008,
"cds_start": 6019,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 6369,
"cdna_end": null,
"cdna_length": 7635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261407.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6019C>G",
"hgvs_p": "p.Leu2007Val",
"transcript": "NM_001375419.1",
"protein_id": "NP_001362348.1",
"transcript_support_level": null,
"aa_start": 2007,
"aa_end": null,
"aa_length": 2008,
"cds_start": 6019,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 6205,
"cdna_end": null,
"cdna_length": 7471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375419.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "NM_001375420.1",
"protein_id": "NP_001362349.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6181,
"cdna_end": null,
"cdna_length": 7447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375420.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "NM_001375421.1",
"protein_id": "NP_001362350.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6913,
"cdna_end": null,
"cdna_length": 8179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375421.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "NM_001375422.1",
"protein_id": "NP_001362351.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6715,
"cdna_end": null,
"cdna_length": 7981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375422.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "NM_001375423.1",
"protein_id": "NP_001362352.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6379,
"cdna_end": null,
"cdna_length": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375423.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "NM_001375424.1",
"protein_id": "NP_001362353.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6345,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375424.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5908C>G",
"hgvs_p": "p.Leu1970Val",
"transcript": "NM_001375425.1",
"protein_id": "NP_001362354.1",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 1971,
"cds_start": 5908,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 6094,
"cdna_end": null,
"cdna_length": 7360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375425.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5908C>G",
"hgvs_p": "p.Leu1970Val",
"transcript": "NM_001375426.1",
"protein_id": "NP_001362355.1",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 1971,
"cds_start": 5908,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 6258,
"cdna_end": null,
"cdna_length": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375426.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5908C>G",
"hgvs_p": "p.Leu1970Val",
"transcript": "ENST00000959912.1",
"protein_id": "ENSP00000629971.1",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 1971,
"cds_start": 5908,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 6231,
"cdna_end": null,
"cdna_length": 7492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959912.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5908C>G",
"hgvs_p": "p.Leu1970Val",
"transcript": "ENST00000959913.1",
"protein_id": "ENSP00000629972.1",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 1971,
"cds_start": 5908,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 6065,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959913.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5824C>G",
"hgvs_p": "p.Leu1942Val",
"transcript": "ENST00000959909.1",
"protein_id": "ENSP00000629968.1",
"transcript_support_level": null,
"aa_start": 1942,
"aa_end": null,
"aa_length": 1943,
"cds_start": 5824,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 6021,
"cdna_end": null,
"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959909.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5797C>G",
"hgvs_p": "p.Leu1933Val",
"transcript": "NM_001375427.1",
"protein_id": "NP_001362356.1",
"transcript_support_level": null,
"aa_start": 1933,
"aa_end": null,
"aa_length": 1934,
"cds_start": 5797,
"cds_end": null,
"cds_length": 5805,
"cdna_start": 6147,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375427.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.3013C>G",
"hgvs_p": "p.Leu1005Val",
"transcript": "ENST00000545857.5",
"protein_id": "ENSP00000444230.1",
"transcript_support_level": 5,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1006,
"cds_start": 3013,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 3013,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545857.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2782C>G",
"hgvs_p": "p.Leu928Val",
"transcript": "ENST00000538841.5",
"protein_id": "ENSP00000444717.1",
"transcript_support_level": 2,
"aa_start": 928,
"aa_end": null,
"aa_length": 929,
"cds_start": 2782,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538841.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1828C>G",
"hgvs_p": "p.Leu610Val",
"transcript": "ENST00000438511.5",
"protein_id": "ENSP00000415964.1",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 611,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438511.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6304C>G",
"hgvs_p": "p.Leu2102Val",
"transcript": "XM_047424046.1",
"protein_id": "XP_047280002.1",
"transcript_support_level": null,
"aa_start": 2102,
"aa_end": null,
"aa_length": 2103,
"cds_start": 6304,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 7289,
"cdna_end": null,
"cdna_length": 8555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424046.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_006716886.4",
"protein_id": "XP_006716949.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6589,
"cdna_end": null,
"cdna_length": 7855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716886.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_024447708.2",
"protein_id": "XP_024303476.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6454,
"cdna_end": null,
"cdna_length": 7720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447708.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424009.1",
"protein_id": "XP_047279965.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6753,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424009.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424010.1",
"protein_id": "XP_047279966.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6826,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424010.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424012.1",
"protein_id": "XP_047279968.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6628,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424012.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424013.1",
"protein_id": "XP_047279969.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6652,
"cdna_end": null,
"cdna_length": 7918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424013.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424014.1",
"protein_id": "XP_047279970.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6925,
"cdna_end": null,
"cdna_length": 8191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424014.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424015.1",
"protein_id": "XP_047279971.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6759,
"cdna_end": null,
"cdna_length": 8025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424015.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424016.1",
"protein_id": "XP_047279972.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 7026,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424016.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424017.1",
"protein_id": "XP_047279973.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 6359,
"cdna_end": null,
"cdna_length": 7625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424017.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424018.1",
"protein_id": "XP_047279974.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 7441,
"cdna_end": null,
"cdna_length": 8707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424018.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424019.1",
"protein_id": "XP_047279975.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 7214,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424019.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424020.1",
"protein_id": "XP_047279976.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 7511,
"cdna_end": null,
"cdna_length": 8777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424020.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6205C>G",
"hgvs_p": "p.Leu2069Val",
"transcript": "XM_047424022.1",
"protein_id": "XP_047279978.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 7388,
"cdna_end": null,
"cdna_length": 8654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424022.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6121C>G",
"hgvs_p": "p.Leu2041Val",
"transcript": "XM_017015252.2",
"protein_id": "XP_016870741.1",
"transcript_support_level": null,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2042,
"cds_start": 6121,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 6307,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015252.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6118C>G",
"hgvs_p": "p.Leu2040Val",
"transcript": "XM_006716888.4",
"protein_id": "XP_006716951.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2041,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 6304,
"cdna_end": null,
"cdna_length": 7570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716888.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424023.1",
"protein_id": "XP_047279979.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6654,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424023.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424024.1",
"protein_id": "XP_047279980.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6727,
"cdna_end": null,
"cdna_length": 7993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424024.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424025.1",
"protein_id": "XP_047279981.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6355,
"cdna_end": null,
"cdna_length": 7621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424025.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424026.1",
"protein_id": "XP_047279982.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6826,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424026.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424027.1",
"protein_id": "XP_047279983.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6342,
"cdna_end": null,
"cdna_length": 7608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424027.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424028.1",
"protein_id": "XP_047279984.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6553,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424028.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424029.1",
"protein_id": "XP_047279985.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 6260,
"cdna_end": null,
"cdna_length": 7526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424029.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424031.1",
"protein_id": "XP_047279987.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 7009,
"cdna_end": null,
"cdna_length": 8275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424031.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6106C>G",
"hgvs_p": "p.Leu2036Val",
"transcript": "XM_047424032.1",
"protein_id": "XP_047279988.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2037,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 7047,
"cdna_end": null,
"cdna_length": 8313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424032.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6034C>G",
"hgvs_p": "p.Leu2012Val",
"transcript": "XM_047424033.1",
"protein_id": "XP_047279989.1",
"transcript_support_level": null,
"aa_start": 2012,
"aa_end": null,
"aa_length": 2013,
"cds_start": 6034,
"cds_end": null,
"cds_length": 6042,
"cdna_start": 6220,
"cdna_end": null,
"cdna_length": 7486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424033.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6022C>G",
"hgvs_p": "p.Leu2008Val",
"transcript": "XM_047424034.1",
"protein_id": "XP_047279990.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2009,
"cds_start": 6022,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 6570,
"cdna_end": null,
"cdna_length": 7836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424034.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6022C>G",
"hgvs_p": "p.Leu2008Val",
"transcript": "XM_047424035.1",
"protein_id": "XP_047279991.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2009,
"cds_start": 6022,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 6406,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424035.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.6019C>G",
"hgvs_p": "p.Leu2007Val",
"transcript": "XM_054328427.1",
"protein_id": "XP_054184402.1",
"transcript_support_level": null,
"aa_start": 2007,
"aa_end": null,
"aa_length": 2008,
"cds_start": 6019,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 6442,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328427.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424036.1",
"protein_id": "XP_047279992.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6616,
"cdna_end": null,
"cdna_length": 7882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424036.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424037.1",
"protein_id": "XP_047279993.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6543,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424037.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424038.1",
"protein_id": "XP_047279994.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6591,
"cdna_end": null,
"cdna_length": 7857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424038.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424039.1",
"protein_id": "XP_047279995.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6442,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424039.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424041.1",
"protein_id": "XP_047279997.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6284,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424041.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424042.1",
"protein_id": "XP_047279998.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6583,
"cdna_end": null,
"cdna_length": 7849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424042.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424043.1",
"protein_id": "XP_047279999.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6898,
"cdna_end": null,
"cdna_length": 8164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424043.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424044.1",
"protein_id": "XP_047280000.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6385,
"cdna_end": null,
"cdna_length": 7651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424044.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.5995C>G",
"hgvs_p": "p.Leu1999Val",
"transcript": "XM_047424045.1",
"protein_id": "XP_047280001.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5995,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 6549,
"cdna_end": null,
"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.2705C>G",
"hgvs_p": null,
"transcript": "ENST00000319198.10",
"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": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000319198.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.1765C>G",
"hgvs_p": null,
"transcript": "ENST00000381017.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000381017.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.6092C>G",
"hgvs_p": null,
"transcript": "ENST00000539508.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000539508.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.*2240C>G",
"hgvs_p": null,
"transcript": "ENST00000542806.5",
"protein_id": "ENSP00000437651.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000542806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.*2240C>G",
"hgvs_p": null,
"transcript": "ENST00000542806.5",
"protein_id": "ENSP00000437651.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000542806.5"
}
],
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"dbsnp": "rs762562059",
"frequency_reference_population": 6.843381e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84338e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.369285523891449,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.1912,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.477,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375413.1",
"gene_symbol": "MPDZ",
"hgnc_id": 7208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6304C>G",
"hgvs_p": "p.Leu2102Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}