← 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: 10-76891709-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=76891709&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 76891709,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001161352.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "NM_001161352.2",
"protein_id": "NP_001154824.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": "ENST00000286628.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "ENST00000286628.14",
"protein_id": "ENSP00000286628.8",
"transcript_support_level": 1,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": "NM_001161352.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asn1036Ser",
"transcript": "ENST00000626620.3",
"protein_id": "ENSP00000485867.1",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3074A>G",
"hgvs_p": "p.Asn1025Ser",
"transcript": "ENST00000639406.1",
"protein_id": "ENSP00000491732.1",
"transcript_support_level": 1,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000286627.10",
"protein_id": "ENSP00000286627.5",
"transcript_support_level": 1,
"aa_start": 995,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 6194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2834A>G",
"hgvs_p": "p.Asn945Ser",
"transcript": "ENST00000640807.1",
"protein_id": "ENSP00000491555.1",
"transcript_support_level": 1,
"aa_start": 945,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 2834,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Asn860Ser",
"transcript": "ENST00000604624.6",
"protein_id": "ENSP00000473714.2",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 11400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1863A>G",
"hgvs_p": null,
"transcript": "ENST00000639691.1",
"protein_id": "ENSP00000491040.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.3208A>G",
"hgvs_p": null,
"transcript": "ENST00000639851.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1863A>G",
"hgvs_p": null,
"transcript": "ENST00000639691.1",
"protein_id": "ENSP00000491040.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1-AS1",
"gene_hgnc_id": 51213,
"hgvs_c": "n.238+3428T>C",
"hgvs_p": null,
"transcript": "ENST00000429850.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "ENST00000404771.8",
"protein_id": "ENSP00000385717.3",
"transcript_support_level": 5,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3167A>G",
"hgvs_p": "p.Asn1056Ser",
"transcript": "ENST00000639591.1",
"protein_id": "ENSP00000492793.1",
"transcript_support_level": 5,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3167,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3179A>G",
"hgvs_p": "p.Asn1060Ser",
"transcript": "ENST00000640523.1",
"protein_id": "ENSP00000491795.1",
"transcript_support_level": 5,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3179,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3652,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Asn1057Ser",
"transcript": "ENST00000638759.1",
"protein_id": "ENSP00000492632.1",
"transcript_support_level": 5,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3167A>G",
"hgvs_p": "p.Asn1056Ser",
"transcript": "ENST00000638575.1",
"protein_id": "ENSP00000492049.1",
"transcript_support_level": 5,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3167,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Asn1057Ser",
"transcript": "ENST00000638848.1",
"protein_id": "ENSP00000492414.1",
"transcript_support_level": 5,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3005A>G",
"hgvs_p": "p.Asn1002Ser",
"transcript": "ENST00000640605.1",
"protein_id": "ENSP00000491435.1",
"transcript_support_level": 5,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "ENST00000639544.1",
"protein_id": "ENSP00000492075.1",
"transcript_support_level": 5,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3158,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "ENST00000457953.6",
"protein_id": "ENSP00000396608.2",
"transcript_support_level": 5,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "ENST00000638606.1",
"protein_id": "ENSP00000491981.1",
"transcript_support_level": 5,
"aa_start": 999,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "ENST00000640182.1",
"protein_id": "ENSP00000492510.1",
"transcript_support_level": 5,
"aa_start": 999,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2993A>G",
"hgvs_p": "p.Asn998Ser",
"transcript": "ENST00000372440.6",
"protein_id": "ENSP00000361517.2",
"transcript_support_level": 5,
"aa_start": 998,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2993A>G",
"hgvs_p": "p.Asn998Ser",
"transcript": "ENST00000638351.1",
"protein_id": "ENSP00000491156.1",
"transcript_support_level": 5,
"aa_start": 998,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2990A>G",
"hgvs_p": "p.Asn997Ser",
"transcript": "ENST00000372437.6",
"protein_id": "ENSP00000361514.2",
"transcript_support_level": 5,
"aa_start": 997,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2990,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000638203.1",
"protein_id": "ENSP00000491123.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000639090.1",
"protein_id": "ENSP00000491673.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3116A>G",
"hgvs_p": "p.Asn1039Ser",
"transcript": "NM_001437422.1",
"protein_id": "NP_001424351.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 6219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2960A>G",
"hgvs_p": "p.Asn987Ser",
"transcript": "ENST00000638895.1",
"protein_id": "ENSP00000491207.1",
"transcript_support_level": 5,
"aa_start": 987,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asn1036Ser",
"transcript": "NM_001161353.2",
"protein_id": "NP_001154825.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3086A>G",
"hgvs_p": "p.Asn1029Ser",
"transcript": "NM_001322830.2",
"protein_id": "NP_001309759.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 12072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3086A>G",
"hgvs_p": "p.Asn1029Ser",
"transcript": "ENST00000638223.1",
"protein_id": "ENSP00000492492.1",
"transcript_support_level": 5,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3077A>G",
"hgvs_p": "p.Asn1026Ser",
"transcript": "NM_001322837.2",
"protein_id": "NP_001309766.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3077A>G",
"hgvs_p": "p.Asn1026Ser",
"transcript": "ENST00000372443.6",
"protein_id": "ENSP00000361520.2",
"transcript_support_level": 5,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3804,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3074A>G",
"hgvs_p": "p.Asn1025Ser",
"transcript": "NM_001271519.2",
"protein_id": "NP_001258448.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3240,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3077A>G",
"hgvs_p": "p.Asn1026Ser",
"transcript": "NM_001322835.2",
"protein_id": "NP_001309764.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 12060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3074A>G",
"hgvs_p": "p.Asn1025Ser",
"transcript": "ENST00000639913.1",
"protein_id": "ENSP00000492241.1",
"transcript_support_level": 5,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 12071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3071A>G",
"hgvs_p": "p.Asn1024Ser",
"transcript": "NM_001437423.1",
"protein_id": "NP_001424352.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 12057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3071A>G",
"hgvs_p": "p.Asn1024Ser",
"transcript": "ENST00000434208.6",
"protein_id": "ENSP00000402150.2",
"transcript_support_level": 5,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3071A>G",
"hgvs_p": "p.Asn1024Ser",
"transcript": "ENST00000640969.1",
"protein_id": "ENSP00000492200.1",
"transcript_support_level": 5,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3235,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3011A>G",
"hgvs_p": "p.Asn1004Ser",
"transcript": "ENST00000639370.1",
"protein_id": "ENSP00000491277.1",
"transcript_support_level": 5,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3011,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3116A>G",
"hgvs_p": "p.Asn1039Ser",
"transcript": "ENST00000638514.1",
"protein_id": "ENSP00000491840.1",
"transcript_support_level": 5,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3593,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Asn960Ser",
"transcript": "ENST00000639498.1",
"protein_id": "ENSP00000492835.1",
"transcript_support_level": 5,
"aa_start": 960,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Asn960Ser",
"transcript": "ENST00000372408.7",
"protein_id": "ENSP00000361485.3",
"transcript_support_level": 5,
"aa_start": 960,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2870A>G",
"hgvs_p": "p.Asn957Ser",
"transcript": "ENST00000372403.9",
"protein_id": "ENSP00000361480.4",
"transcript_support_level": 5,
"aa_start": 957,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 2870,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2843A>G",
"hgvs_p": "p.Asn948Ser",
"transcript": "ENST00000639344.1",
"protein_id": "ENSP00000492559.1",
"transcript_support_level": 5,
"aa_start": 948,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 2845,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "NM_001014797.3",
"protein_id": "NP_001014797.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 11982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2993A>G",
"hgvs_p": "p.Asn998Ser",
"transcript": "NM_001322836.2",
"protein_id": "NP_001309765.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3159,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "ENST00000372421.10",
"protein_id": "ENSP00000361498.6",
"transcript_support_level": 5,
"aa_start": 999,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2993A>G",
"hgvs_p": "p.Asn998Ser",
"transcript": "ENST00000638991.1",
"protein_id": "ENSP00000490978.1",
"transcript_support_level": 5,
"aa_start": 998,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 11990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "ENST00000639489.1",
"protein_id": "ENSP00000491927.1",
"transcript_support_level": 5,
"aa_start": 999,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2993A>G",
"hgvs_p": "p.Asn998Ser",
"transcript": "ENST00000640141.1",
"protein_id": "ENSP00000491418.1",
"transcript_support_level": 5,
"aa_start": 998,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2993A>G",
"hgvs_p": "p.Asn998Ser",
"transcript": "NM_001322829.2",
"protein_id": "NP_001309758.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3159,
"cdna_end": null,
"cdna_length": 11976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "NM_001410940.1",
"protein_id": "NP_001397869.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 11970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "NM_002247.4",
"protein_id": "NP_002238.2",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000639601.1",
"protein_id": "ENSP00000492806.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 11920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000640029.1",
"protein_id": "ENSP00000491463.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2984,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000640834.1",
"protein_id": "ENSP00000491920.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3080,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "NM_001322832.2",
"protein_id": "NP_001309761.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 11967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000638306.1",
"protein_id": "ENSP00000491008.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "ENST00000639486.1",
"protein_id": "ENSP00000492005.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 8850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2975A>G",
"hgvs_p": "p.Asn992Ser",
"transcript": "ENST00000640934.1",
"protein_id": "ENSP00000491539.1",
"transcript_support_level": 5,
"aa_start": 992,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3005A>G",
"hgvs_p": "p.Asn1002Ser",
"transcript": "ENST00000640773.1",
"protein_id": "ENSP00000491173.1",
"transcript_support_level": 5,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3006,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2888A>G",
"hgvs_p": "p.Asn963Ser",
"transcript": "ENST00000639823.1",
"protein_id": "ENSP00000490982.1",
"transcript_support_level": 5,
"aa_start": 963,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 2888,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2876A>G",
"hgvs_p": "p.Asn959Ser",
"transcript": "ENST00000404857.6",
"protein_id": "ENSP00000385806.3",
"transcript_support_level": 5,
"aa_start": 959,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Asn960Ser",
"transcript": "ENST00000639205.1",
"protein_id": "ENSP00000492718.1",
"transcript_support_level": 5,
"aa_start": 960,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2834A>G",
"hgvs_p": "p.Asn945Ser",
"transcript": "NM_001271518.2",
"protein_id": "NP_001258447.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 11820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2786A>G",
"hgvs_p": "p.Asn929Ser",
"transcript": "ENST00000638283.1",
"protein_id": "ENSP00000491300.1",
"transcript_support_level": 5,
"aa_start": 929,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2807A>G",
"hgvs_p": "p.Asn936Ser",
"transcript": "ENST00000638252.1",
"protein_id": "ENSP00000492178.1",
"transcript_support_level": 5,
"aa_start": 936,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2636A>G",
"hgvs_p": "p.Asn879Ser",
"transcript": "ENST00000640626.1",
"protein_id": "ENSP00000491545.1",
"transcript_support_level": 5,
"aa_start": 879,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2636,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2699A>G",
"hgvs_p": "p.Asn900Ser",
"transcript": "ENST00000707137.1",
"protein_id": "ENSP00000516759.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 11521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2663A>G",
"hgvs_p": "p.Asn888Ser",
"transcript": "ENST00000354353.9",
"protein_id": "ENSP00000346321.6",
"transcript_support_level": 5,
"aa_start": 888,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2663,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2570A>G",
"hgvs_p": "p.Asn857Ser",
"transcript": "ENST00000406533.7",
"protein_id": "ENSP00000385552.4",
"transcript_support_level": 5,
"aa_start": 857,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 5639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2531A>G",
"hgvs_p": "p.Asn844Ser",
"transcript": "NM_001322838.2",
"protein_id": "NP_001309767.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2531,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 3208,
"cdna_end": null,
"cdna_length": 12025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2510A>G",
"hgvs_p": "p.Asn837Ser",
"transcript": "ENST00000638754.1",
"protein_id": "ENSP00000491166.1",
"transcript_support_level": 5,
"aa_start": 837,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2510,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.Asn783Ser",
"transcript": "ENST00000639730.1",
"protein_id": "ENSP00000492519.1",
"transcript_support_level": 5,
"aa_start": 783,
"aa_end": null,
"aa_length": 976,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "ENST00000640353.1",
"protein_id": "ENSP00000492153.1",
"transcript_support_level": 5,
"aa_start": 805,
"aa_end": null,
"aa_length": 962,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Asn392Ser",
"transcript": "ENST00000639716.1",
"protein_id": "ENSP00000491131.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 575,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3383A>G",
"hgvs_p": "p.Asn1128Ser",
"transcript": "XM_017016207.3",
"protein_id": "XP_016871696.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3383,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 12369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3383A>G",
"hgvs_p": "p.Asn1128Ser",
"transcript": "XM_017016208.3",
"protein_id": "XP_016871697.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3383,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 12366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3371A>G",
"hgvs_p": "p.Asn1124Ser",
"transcript": "XM_017016209.3",
"protein_id": "XP_016871698.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3371,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 6474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "XM_024447987.2",
"protein_id": "XP_024303755.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 12170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3302A>G",
"hgvs_p": "p.Asn1101Ser",
"transcript": "XM_011539773.3",
"protein_id": "XP_011538075.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3855,
"cdna_start": 3468,
"cdna_end": null,
"cdna_length": 12288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3302A>G",
"hgvs_p": "p.Asn1101Ser",
"transcript": "XM_017016210.3",
"protein_id": "XP_016871699.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3468,
"cdna_end": null,
"cdna_length": 12285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3296A>G",
"hgvs_p": "p.Asn1099Ser",
"transcript": "XM_011539774.3",
"protein_id": "XP_011538076.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3296,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 6399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3290A>G",
"hgvs_p": "p.Asn1097Ser",
"transcript": "XM_011539775.3",
"protein_id": "XP_011538077.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3290,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3456,
"cdna_end": null,
"cdna_length": 12276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3251A>G",
"hgvs_p": "p.Asn1084Ser",
"transcript": "XM_011539777.3",
"protein_id": "XP_011538079.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 6354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3239A>G",
"hgvs_p": "p.Asn1080Ser",
"transcript": "XM_011539778.3",
"protein_id": "XP_011538080.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3239,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3405,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3065A>G",
"hgvs_p": "p.Asn1022Ser",
"transcript": "XM_005269776.5",
"protein_id": "XP_005269833.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3065,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 12077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3215A>G",
"hgvs_p": "p.Asn1072Ser",
"transcript": "XM_017016211.3",
"protein_id": "XP_016871700.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3215,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 12198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3209A>G",
"hgvs_p": "p.Asn1070Ser",
"transcript": "XM_047425195.1",
"protein_id": "XP_047281151.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Asn1068Ser",
"transcript": "XM_047425196.1",
"protein_id": "XP_047281152.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3203,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 12189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Asn1068Ser",
"transcript": "XM_017016213.3",
"protein_id": "XP_016871702.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3203,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 12186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3197A>G",
"hgvs_p": "p.Asn1066Ser",
"transcript": "XM_017016214.3",
"protein_id": "XP_016871703.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 6300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Asn1057Ser",
"transcript": "XM_011539780.3",
"protein_id": "XP_011538082.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 12156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3170A>G",
"hgvs_p": "p.Asn1057Ser",
"transcript": "XM_005269778.3",
"protein_id": "XP_005269835.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 12153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "XM_005269781.3",
"protein_id": "XP_005269838.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 12144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser",
"transcript": "XM_024447984.2",
"protein_id": "XP_024303752.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 12141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "XM_024447988.2",
"protein_id": "XP_024303756.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 12008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "XM_024447989.2",
"protein_id": "XP_024303757.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 12008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3152A>G",
"hgvs_p": "p.Asn1051Ser",
"transcript": "XM_047425197.1",
"protein_id": "XP_047281153.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3152,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 6255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "XM_005269787.5",
"protein_id": "XP_005269844.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 11996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "XM_024447990.2",
"protein_id": "XP_024303758.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 11996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3128A>G",
"hgvs_p": "p.Asn1043Ser",
"transcript": "XM_011539781.4",
"protein_id": "XP_011538083.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3294,
"cdna_end": null,
"cdna_length": 12114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3116A>G",
"hgvs_p": "p.Asn1039Ser",
"transcript": "XM_017016217.2",
"protein_id": "XP_016871706.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 12099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3083A>G",
"hgvs_p": "p.Asn1028Ser",
"transcript": "XM_011539783.3",
"protein_id": "XP_011538085.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3083,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3077A>G",
"hgvs_p": "p.Asn1026Ser",
"transcript": "XM_005269789.3",
"protein_id": "XP_005269846.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 12063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3074A>G",
"hgvs_p": "p.Asn1025Ser",
"transcript": "XM_011539785.3",
"protein_id": "XP_011538087.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3240,
"cdna_end": null,
"cdna_length": 12057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3071A>G",
"hgvs_p": "p.Asn1024Ser",
"transcript": "XM_047425199.1",
"protein_id": "XP_047281155.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 12054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3065A>G",
"hgvs_p": "p.Asn1022Ser",
"transcript": "XM_006717826.3",
"protein_id": "XP_006717889.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3065,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.Asn999Ser",
"transcript": "XM_024447985.2",
"protein_id": "XP_024303753.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 11979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.Asn995Ser",
"transcript": "XM_017016222.3",
"protein_id": "XP_016871711.2",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 11967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2777A>G",
"hgvs_p": "p.Asn926Ser",
"transcript": "XM_024447986.2",
"protein_id": "XP_024303754.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 15706,
"cdna_end": null,
"cdna_length": 18643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2531A>G",
"hgvs_p": "p.Asn844Ser",
"transcript": "XM_017016223.1",
"protein_id": "XP_016871712.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2531,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 11363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2483A>G",
"hgvs_p": "p.Asn828Ser",
"transcript": "XM_047425200.1",
"protein_id": "XP_047281156.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2483,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.7347A>G",
"hgvs_p": null,
"transcript": "ENST00000638632.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*2115A>G",
"hgvs_p": null,
"transcript": "ENST00000638751.1",
"protein_id": "ENSP00000492172.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.2169A>G",
"hgvs_p": null,
"transcript": "ENST00000638999.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.2701A>G",
"hgvs_p": null,
"transcript": "ENST00000639069.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.1905A>G",
"hgvs_p": null,
"transcript": "ENST00000639321.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1680A>G",
"hgvs_p": null,
"transcript": "ENST00000639483.1",
"protein_id": "ENSP00000492406.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.3067A>G",
"hgvs_p": null,
"transcript": "ENST00000639657.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*2002A>G",
"hgvs_p": null,
"transcript": "ENST00000639968.1",
"protein_id": "ENSP00000491723.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*888A>G",
"hgvs_p": null,
"transcript": "ENST00000639995.1",
"protein_id": "ENSP00000491902.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1807A>G",
"hgvs_p": null,
"transcript": "ENST00000640093.1",
"protein_id": "ENSP00000492224.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.2688A>G",
"hgvs_p": null,
"transcript": "ENST00000640570.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*2115A>G",
"hgvs_p": null,
"transcript": "ENST00000638751.1",
"protein_id": "ENSP00000492172.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1680A>G",
"hgvs_p": null,
"transcript": "ENST00000639483.1",
"protein_id": "ENSP00000492406.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*2002A>G",
"hgvs_p": null,
"transcript": "ENST00000639968.1",
"protein_id": "ENSP00000491723.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*888A>G",
"hgvs_p": null,
"transcript": "ENST00000639995.1",
"protein_id": "ENSP00000491902.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1807A>G",
"hgvs_p": null,
"transcript": "ENST00000640093.1",
"protein_id": "ENSP00000492224.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1-AS1",
"gene_hgnc_id": 51213,
"hgvs_c": "n.69+3428T>C",
"hgvs_p": null,
"transcript": "ENST00000426234.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1-AS1",
"gene_hgnc_id": 51213,
"hgvs_c": "n.206+3428T>C",
"hgvs_p": null,
"transcript": "ENST00000458661.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNMA1-AS1",
"gene_hgnc_id": 51213,
"hgvs_c": "n.455+1941T>C",
"hgvs_p": null,
"transcript": "ENST00000595702.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1-AS1",
"gene_hgnc_id": 51213,
"hgvs_c": "n.238+3428T>C",
"hgvs_p": null,
"transcript": "NR_120655.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1-AS1",
"gene_hgnc_id": 51213,
"hgvs_c": "n.*89T>C",
"hgvs_p": null,
"transcript": "ENST00000609102.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"dbsnp": "rs886039469",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.803706169128418,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.71,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001161352.2",
"gene_symbol": "KCNMA1",
"hgnc_id": 6284,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3158A>G",
"hgvs_p": "p.Asn1053Ser"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000429850.2",
"gene_symbol": "KCNMA1-AS1",
"hgnc_id": 51213,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238+3428T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Generalized epilepsy-paroxysmal dyskinesia syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Generalized epilepsy-paroxysmal dyskinesia syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}