← 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: 5-103003107-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=103003107&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 103003107,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001319943.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_001177306.2",
"protein_id": "NP_001170777.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": "ENST00000438793.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177306.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000438793.8",
"protein_id": "ENSP00000396493.3",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": "NM_001177306.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438793.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000304400.12",
"protein_id": "ENSP00000306100.8",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304400.12"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000455264.7",
"protein_id": "ENSP00000403461.2",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455264.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000348126.7",
"protein_id": "ENSP00000314638.3",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348126.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "ENST00000890197.1",
"protein_id": "ENSP00000560256.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 992,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890197.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890198.1",
"protein_id": "ENSP00000560257.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 992,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890198.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "NM_001319943.1",
"protein_id": "NP_001306872.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 991,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319943.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "ENST00000890204.1",
"protein_id": "ENSP00000560263.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 991,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890204.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "ENST00000957519.1",
"protein_id": "ENSP00000627578.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 991,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957519.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "ENST00000890210.1",
"protein_id": "ENSP00000560269.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 990,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890210.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1721A>G",
"hgvs_p": "p.Asp574Gly",
"transcript": "ENST00000939736.1",
"protein_id": "ENSP00000609795.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 983,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939736.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957489.1",
"protein_id": "ENSP00000627548.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 983,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957489.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957494.1",
"protein_id": "ENSP00000627553.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 982,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957494.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957509.1",
"protein_id": "ENSP00000627568.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 978,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957509.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957490.1",
"protein_id": "ENSP00000627549.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 975,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957490.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_000919.4",
"protein_id": "NP_000910.2",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000919.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000684529.1",
"protein_id": "ENSP00000507038.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684529.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1691A>G",
"hgvs_p": "p.Asp564Gly",
"transcript": "ENST00000890211.1",
"protein_id": "ENSP00000560270.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 974,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890211.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890215.1",
"protein_id": "ENSP00000560274.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890215.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890218.1",
"protein_id": "ENSP00000560277.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890218.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957510.1",
"protein_id": "ENSP00000627569.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957510.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957511.1",
"protein_id": "ENSP00000627570.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957511.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957516.1",
"protein_id": "ENSP00000627575.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957516.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_001364583.2",
"protein_id": "NP_001351512.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364583.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890216.1",
"protein_id": "ENSP00000560275.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890216.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890220.1",
"protein_id": "ENSP00000560279.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890220.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957497.1",
"protein_id": "ENSP00000627556.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957497.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957502.1",
"protein_id": "ENSP00000627561.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957502.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957517.1",
"protein_id": "ENSP00000627576.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957517.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_001364584.2",
"protein_id": "NP_001351513.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 972,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364584.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890194.1",
"protein_id": "ENSP00000560253.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 972,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890194.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890213.1",
"protein_id": "ENSP00000560272.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 972,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890213.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Asp561Gly",
"transcript": "ENST00000957484.1",
"protein_id": "ENSP00000627543.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 972,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957484.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "ENST00000957495.1",
"protein_id": "ENSP00000627554.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 972,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957495.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957500.1",
"protein_id": "ENSP00000627559.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 972,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957500.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957513.1",
"protein_id": "ENSP00000627572.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 972,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957513.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957518.1",
"protein_id": "ENSP00000627577.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 972,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957518.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Asp561Gly",
"transcript": "ENST00000957493.1",
"protein_id": "ENSP00000627552.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 971,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957493.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1679A>G",
"hgvs_p": "p.Asp560Gly",
"transcript": "ENST00000957504.1",
"protein_id": "ENSP00000627563.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 971,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957504.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Asp559Gly",
"transcript": "ENST00000957505.1",
"protein_id": "ENSP00000627564.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 969,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957505.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asp613Gly",
"transcript": "ENST00000939734.1",
"protein_id": "ENSP00000609793.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 956,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939734.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957512.1",
"protein_id": "ENSP00000627571.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 956,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957512.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_001364582.2",
"protein_id": "NP_001351511.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 955,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364582.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000682407.1",
"protein_id": "ENSP00000506966.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 955,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 3809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682407.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890203.1",
"protein_id": "ENSP00000560262.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 954,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890203.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Asp534Gly",
"transcript": "ENST00000957486.1",
"protein_id": "ENSP00000627545.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 944,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957486.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1559A>G",
"hgvs_p": "p.Asp520Gly",
"transcript": "ENST00000957487.1",
"protein_id": "ENSP00000627546.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 930,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957487.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Asp517Gly",
"transcript": "ENST00000939739.1",
"protein_id": "ENSP00000609798.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 927,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939739.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Asp517Gly",
"transcript": "ENST00000957501.1",
"protein_id": "ENSP00000627560.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 926,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957501.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1544A>G",
"hgvs_p": "p.Asp515Gly",
"transcript": "ENST00000957488.1",
"protein_id": "ENSP00000627547.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 925,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957488.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "ENST00000890202.1",
"protein_id": "ENSP00000560261.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 924,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890202.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "ENST00000890200.1",
"protein_id": "ENSP00000560259.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 923,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890200.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957508.1",
"protein_id": "ENSP00000627567.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 914,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957508.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890212.1",
"protein_id": "ENSP00000560271.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 910,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890212.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1694A>G",
"hgvs_p": "p.Asp565Gly",
"transcript": "ENST00000957499.1",
"protein_id": "ENSP00000627558.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 907,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957499.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_001364585.2",
"protein_id": "NP_001351514.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 906,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364585.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_001438446.1",
"protein_id": "NP_001425375.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438446.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_138766.2",
"protein_id": "NP_620121.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138766.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890221.1",
"protein_id": "ENSP00000560280.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890221.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000890222.1",
"protein_id": "ENSP00000560281.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890222.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957496.1",
"protein_id": "ENSP00000627555.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957496.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957506.1",
"protein_id": "ENSP00000627565.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957506.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000957514.1",
"protein_id": "ENSP00000627573.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957514.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Asp561Gly",
"transcript": "ENST00000957485.1",
"protein_id": "ENSP00000627544.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 904,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957485.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asp487Gly",
"transcript": "ENST00000684043.1",
"protein_id": "ENSP00000506915.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 897,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684043.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1430A>G",
"hgvs_p": "p.Asp477Gly",
"transcript": "ENST00000957491.1",
"protein_id": "ENSP00000627550.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 888,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957491.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "NM_138822.2",
"protein_id": "NP_620177.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 887,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138822.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "ENST00000346918.7",
"protein_id": "ENSP00000282992.3",
"transcript_support_level": 5,
"aa_start": 563,
"aa_end": null,
"aa_length": 887,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346918.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "ENST00000890195.1",
"protein_id": "ENSP00000560254.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 885,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890195.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "ENST00000890201.1",
"protein_id": "ENSP00000560260.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 884,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890201.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "ENST00000957482.1",
"protein_id": "ENSP00000627541.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 883,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957482.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1604A>G",
"hgvs_p": "p.Asp535Gly",
"transcript": "ENST00000939731.1",
"protein_id": "ENSP00000609790.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 878,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939731.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Asp466Gly",
"transcript": "ENST00000957498.1",
"protein_id": "ENSP00000627557.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 876,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957498.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Asp464Gly",
"transcript": "ENST00000957483.1",
"protein_id": "ENSP00000627542.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 874,
"cds_start": 1391,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957483.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "NM_001364586.2",
"protein_id": "NP_001351515.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 867,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364586.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000682972.1",
"protein_id": "ENSP00000507172.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 867,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682972.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890214.1",
"protein_id": "ENSP00000560273.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 867,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890214.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890219.1",
"protein_id": "ENSP00000560278.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 867,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890219.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "NM_001364587.2",
"protein_id": "NP_001351516.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 5058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364587.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "NM_138821.2",
"protein_id": "NP_620176.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138821.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890207.1",
"protein_id": "ENSP00000560266.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890207.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890217.1",
"protein_id": "ENSP00000560276.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890217.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000939742.1",
"protein_id": "ENSP00000609801.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939742.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "NM_001364588.2",
"protein_id": "NP_001351517.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 865,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 5055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364588.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890192.1",
"protein_id": "ENSP00000560251.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 865,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2004,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890192.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "NM_001364589.2",
"protein_id": "NP_001351518.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 848,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364589.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890196.1",
"protein_id": "ENSP00000560255.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 847,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890196.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Asp517Gly",
"transcript": "ENST00000957503.1",
"protein_id": "ENSP00000627562.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 841,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957503.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asp487Gly",
"transcript": "NM_001364590.2",
"protein_id": "NP_001351519.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 830,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364590.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asp487Gly",
"transcript": "ENST00000682882.1",
"protein_id": "ENSP00000507990.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 830,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682882.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1427A>G",
"hgvs_p": "p.Asp476Gly",
"transcript": "ENST00000939741.1",
"protein_id": "ENSP00000609800.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 819,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939741.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1427A>G",
"hgvs_p": "p.Asp476Gly",
"transcript": "ENST00000939740.1",
"protein_id": "ENSP00000609799.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 818,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939740.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "NM_001364591.2",
"protein_id": "NP_001351520.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 817,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364591.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "ENST00000890199.1",
"protein_id": "ENSP00000560258.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 817,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890199.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "NM_001364592.2",
"protein_id": "NP_001351521.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 816,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364592.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "ENST00000890205.1",
"protein_id": "ENSP00000560264.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 816,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890205.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Asp466Gly",
"transcript": "ENST00000890208.1",
"protein_id": "ENSP00000560267.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 808,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890208.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "NM_001364593.2",
"protein_id": "NP_001351522.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 799,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364593.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890191.1",
"protein_id": "ENSP00000560250.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 799,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890191.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890206.1",
"protein_id": "ENSP00000560265.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 799,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890206.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "NM_001364594.2",
"protein_id": "NP_001351523.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 798,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 4854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364594.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000510208.2",
"protein_id": "ENSP00000508091.1",
"transcript_support_level": 2,
"aa_start": 456,
"aa_end": null,
"aa_length": 798,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510208.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1421A>G",
"hgvs_p": "p.Asp474Gly",
"transcript": "ENST00000939732.1",
"protein_id": "ENSP00000609791.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 798,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939732.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000957515.1",
"protein_id": "ENSP00000627574.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 798,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957515.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000957492.1",
"protein_id": "ENSP00000627551.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 794,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957492.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000890193.1",
"protein_id": "ENSP00000560252.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 780,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890193.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "ENST00000957507.1",
"protein_id": "ENSP00000627566.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 780,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957507.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asp346Gly",
"transcript": "ENST00000890209.1",
"protein_id": "ENSP00000560268.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 689,
"cds_start": 1037,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890209.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.Asp335Gly",
"transcript": "ENST00000379799.7",
"protein_id": "ENSP00000369125.3",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 678,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379799.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_011543419.4",
"protein_id": "XP_011541721.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 992,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543419.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_024446066.2",
"protein_id": "XP_024301834.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 992,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446066.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_017009495.3",
"protein_id": "XP_016864984.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 991,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009495.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_017009496.3",
"protein_id": "XP_016864985.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 990,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009496.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_017009497.3",
"protein_id": "XP_016864986.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 974,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009497.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_024446069.2",
"protein_id": "XP_024301837.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 973,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446069.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_047417240.1",
"protein_id": "XP_047273196.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 973,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417240.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_047417241.1",
"protein_id": "XP_047273197.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 972,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417241.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_024446070.2",
"protein_id": "XP_024301838.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 955,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446070.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_047417242.1",
"protein_id": "XP_047273198.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 954,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417242.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_017009502.3",
"protein_id": "XP_016864991.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 924,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009502.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_024446072.2",
"protein_id": "XP_024301840.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 923,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446072.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Asp505Gly",
"transcript": "XM_024446085.2",
"protein_id": "XP_024301853.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 916,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446085.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_047417243.1",
"protein_id": "XP_047273199.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 906,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417243.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_017009505.3",
"protein_id": "XP_016864994.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 905,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009505.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_024446075.2",
"protein_id": "XP_024301843.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 905,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446075.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_024446076.2",
"protein_id": "XP_024301844.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 887,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446076.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_017009507.3",
"protein_id": "XP_016864996.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 867,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009507.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_024446078.2",
"protein_id": "XP_024301846.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446078.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_047417244.1",
"protein_id": "XP_047273200.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 866,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417244.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_047417245.1",
"protein_id": "XP_047273201.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 847,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 5523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417245.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_047417246.1",
"protein_id": "XP_047273202.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 840,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417246.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_047417247.1",
"protein_id": "XP_047273203.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 839,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417247.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_017009511.3",
"protein_id": "XP_016865000.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 838,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009511.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_024446080.2",
"protein_id": "XP_024301848.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 837,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446080.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asp487Gly",
"transcript": "XM_047417248.1",
"protein_id": "XP_047273204.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 829,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417248.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_047417249.1",
"protein_id": "XP_047273205.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 820,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417249.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly",
"transcript": "XM_024446081.2",
"protein_id": "XP_024301849.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 819,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446081.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_047417250.1",
"protein_id": "XP_047273206.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 819,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417250.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Asp563Gly",
"transcript": "XM_047417251.1",
"protein_id": "XP_047273207.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 801,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417251.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Asp380Gly",
"transcript": "XM_047417252.1",
"protein_id": "XP_047273208.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 790,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417252.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_024446084.2",
"protein_id": "XP_024301852.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 780,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446084.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_047417253.1",
"protein_id": "XP_047273209.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 715,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417253.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_047417254.1",
"protein_id": "XP_047273210.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 713,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417254.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_047417255.1",
"protein_id": "XP_047273211.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 712,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417255.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Asp456Gly",
"transcript": "XM_047417256.1",
"protein_id": "XP_047273212.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 694,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.*1102A>G",
"hgvs_p": null,
"transcript": "ENST00000345721.6",
"protein_id": "ENSP00000302544.4",
"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": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000345721.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.706A>G",
"hgvs_p": null,
"transcript": "ENST00000511429.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.*1503A>G",
"hgvs_p": null,
"transcript": "ENST00000682024.1",
"protein_id": "ENSP00000507752.1",
"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": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.*1102A>G",
"hgvs_p": null,
"transcript": "ENST00000684379.1",
"protein_id": "ENSP00000507375.1",
"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": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.2003A>G",
"hgvs_p": null,
"transcript": "NR_033440.1",
"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": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.*1102A>G",
"hgvs_p": null,
"transcript": "ENST00000345721.6",
"protein_id": "ENSP00000302544.4",
"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": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000345721.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.*1503A>G",
"hgvs_p": null,
"transcript": "ENST00000682024.1",
"protein_id": "ENSP00000507752.1",
"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": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"hgvs_c": "n.*1102A>G",
"hgvs_p": null,
"transcript": "ENST00000684379.1",
"protein_id": "ENSP00000507375.1",
"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": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684379.1"
}
],
"gene_symbol": "PAM",
"gene_hgnc_id": 8596,
"dbsnp": "rs35658696",
"frequency_reference_population": 0.04221772,
"hom_count_reference_population": 1705,
"allele_count_reference_population": 67515,
"gnomad_exomes_af": 0.0433905,
"gnomad_genomes_af": 0.0310723,
"gnomad_exomes_ac": 62784,
"gnomad_genomes_ac": 4731,
"gnomad_exomes_homalt": 1597,
"gnomad_genomes_homalt": 108,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008397847414016724,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.795,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.285,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001319943.1",
"gene_symbol": "PAM",
"hgnc_id": 8596,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.Asp581Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}