← 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: 7-44241702-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44241702&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44241702,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001220.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_001220.5",
"protein_id": "NP_001211.3",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 666,
"cds_start": 901,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": "ENST00000395749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000395749.7",
"protein_id": "ENSP00000379098.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 666,
"cds_start": 901,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": "NM_001220.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395749.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000440254.6",
"protein_id": "ENSP00000397937.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440254.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000395747.6",
"protein_id": "ENSP00000379096.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 518,
"cds_start": 901,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395747.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000258682.10",
"protein_id": "ENSP00000258682.6",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 517,
"cds_start": 901,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258682.10"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000358707.7",
"protein_id": "ENSP00000351542.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 503,
"cds_start": 901,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358707.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000347193.8",
"protein_id": "ENSP00000326544.6",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 492,
"cds_start": 901,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347193.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000353625.8",
"protein_id": "ENSP00000326427.5",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 479,
"cds_start": 901,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353625.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000346990.8",
"protein_id": "ENSP00000326518.5",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 449,
"cds_start": 901,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346990.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943346.1",
"protein_id": "ENSP00000613405.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 713,
"cds_start": 901,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943346.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943324.1",
"protein_id": "ENSP00000613383.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 709,
"cds_start": 901,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943324.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943323.1",
"protein_id": "ENSP00000613382.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 685,
"cds_start": 901,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943323.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896822.1",
"protein_id": "ENSP00000566881.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 684,
"cds_start": 901,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896822.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1015A>G",
"hgvs_p": "p.Lys339Glu",
"transcript": "ENST00000943353.1",
"protein_id": "ENSP00000613412.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 679,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943353.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896844.1",
"protein_id": "ENSP00000566903.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 674,
"cds_start": 901,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896844.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943349.1",
"protein_id": "ENSP00000613408.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 671,
"cds_start": 901,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943349.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896845.1",
"protein_id": "ENSP00000566904.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 670,
"cds_start": 901,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896845.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943344.1",
"protein_id": "ENSP00000613403.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 667,
"cds_start": 901,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943344.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943316.1",
"protein_id": "ENSP00000613375.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 666,
"cds_start": 901,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943316.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943333.1",
"protein_id": "ENSP00000613392.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 666,
"cds_start": 901,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943333.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943345.1",
"protein_id": "ENSP00000613404.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 666,
"cds_start": 901,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943345.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896824.1",
"protein_id": "ENSP00000566883.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 660,
"cds_start": 901,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896824.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943332.1",
"protein_id": "ENSP00000613391.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 647,
"cds_start": 901,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943332.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943350.1",
"protein_id": "ENSP00000613409.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 647,
"cds_start": 901,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943350.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896831.1",
"protein_id": "ENSP00000566890.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 646,
"cds_start": 901,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896831.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896823.1",
"protein_id": "ENSP00000566882.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 642,
"cds_start": 901,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896823.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943325.1",
"protein_id": "ENSP00000613384.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 642,
"cds_start": 901,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943325.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896817.1",
"protein_id": "ENSP00000566876.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 641,
"cds_start": 901,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896817.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896819.1",
"protein_id": "ENSP00000566878.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 641,
"cds_start": 901,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896819.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943318.1",
"protein_id": "ENSP00000613377.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 641,
"cds_start": 901,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943318.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943321.1",
"protein_id": "ENSP00000613380.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 641,
"cds_start": 901,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943321.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943341.1",
"protein_id": "ENSP00000613400.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 641,
"cds_start": 901,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943341.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943343.1",
"protein_id": "ENSP00000613402.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 641,
"cds_start": 901,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943343.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.898A>G",
"hgvs_p": "p.Lys300Glu",
"transcript": "ENST00000943315.1",
"protein_id": "ENSP00000613374.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 640,
"cds_start": 898,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943315.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896838.1",
"protein_id": "ENSP00000566897.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 632,
"cds_start": 901,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896838.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896841.1",
"protein_id": "ENSP00000566900.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 631,
"cds_start": 901,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896841.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943329.1",
"protein_id": "ENSP00000613388.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 629,
"cds_start": 901,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943329.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943313.1",
"protein_id": "ENSP00000613372.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 628,
"cds_start": 901,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943313.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943320.1",
"protein_id": "ENSP00000613379.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 628,
"cds_start": 901,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943320.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896821.1",
"protein_id": "ENSP00000566880.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 627,
"cds_start": 901,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896821.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896820.1",
"protein_id": "ENSP00000566879.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 626,
"cds_start": 901,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896820.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943312.1",
"protein_id": "ENSP00000613371.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 626,
"cds_start": 901,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943312.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943317.1",
"protein_id": "ENSP00000613376.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 623,
"cds_start": 901,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943317.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943348.1",
"protein_id": "ENSP00000613407.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 623,
"cds_start": 901,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943348.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943330.1",
"protein_id": "ENSP00000613389.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 618,
"cds_start": 901,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943330.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896839.1",
"protein_id": "ENSP00000566898.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 617,
"cds_start": 901,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896839.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896826.1",
"protein_id": "ENSP00000566885.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 615,
"cds_start": 901,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896826.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896835.1",
"protein_id": "ENSP00000566894.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 604,
"cds_start": 901,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896835.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943336.1",
"protein_id": "ENSP00000613395.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 604,
"cds_start": 901,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943336.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896818.1",
"protein_id": "ENSP00000566877.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 603,
"cds_start": 901,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896818.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896847.1",
"protein_id": "ENSP00000566906.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 603,
"cds_start": 901,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896847.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943311.1",
"protein_id": "ENSP00000613370.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 603,
"cds_start": 901,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943311.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943334.1",
"protein_id": "ENSP00000613393.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 602,
"cds_start": 901,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943334.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.898A>G",
"hgvs_p": "p.Lys300Glu",
"transcript": "ENST00000943355.1",
"protein_id": "ENSP00000613414.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 602,
"cds_start": 898,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943355.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943339.1",
"protein_id": "ENSP00000613398.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 591,
"cds_start": 901,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943339.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896829.1",
"protein_id": "ENSP00000566888.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 589,
"cds_start": 901,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896829.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896830.1",
"protein_id": "ENSP00000566889.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 588,
"cds_start": 901,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896830.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943326.1",
"protein_id": "ENSP00000613385.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 585,
"cds_start": 901,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943326.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943357.1",
"protein_id": "ENSP00000613416.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 585,
"cds_start": 901,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943357.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896846.1",
"protein_id": "ENSP00000566905.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 584,
"cds_start": 901,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896846.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.844A>G",
"hgvs_p": "p.Lys282Glu",
"transcript": "ENST00000943337.1",
"protein_id": "ENSP00000613396.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 584,
"cds_start": 844,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943337.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943352.1",
"protein_id": "ENSP00000613411.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 580,
"cds_start": 901,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943352.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943314.1",
"protein_id": "ENSP00000613373.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 579,
"cds_start": 901,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943314.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943327.1",
"protein_id": "ENSP00000613386.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 577,
"cds_start": 901,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943327.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896837.1",
"protein_id": "ENSP00000566896.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 570,
"cds_start": 901,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896837.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943342.1",
"protein_id": "ENSP00000613401.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 566,
"cds_start": 901,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943342.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943354.1",
"protein_id": "ENSP00000613413.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 564,
"cds_start": 901,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943354.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000700235.1",
"protein_id": "ENSP00000514874.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 561,
"cds_start": 901,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700235.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896833.1",
"protein_id": "ENSP00000566892.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 556,
"cds_start": 901,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896833.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.799A>G",
"hgvs_p": "p.Lys267Glu",
"transcript": "ENST00000700287.1",
"protein_id": "ENSP00000514919.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 546,
"cds_start": 799,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700287.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943340.1",
"protein_id": "ENSP00000613399.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 543,
"cds_start": 901,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943340.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_001293170.2",
"protein_id": "NP_001280099.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293170.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_172078.3",
"protein_id": "NP_742075.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172078.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000350811.7",
"protein_id": "ENSP00000326375.5",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350811.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000700285.1",
"protein_id": "ENSP00000514918.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700285.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896828.1",
"protein_id": "ENSP00000566887.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896828.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896834.1",
"protein_id": "ENSP00000566893.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896834.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943319.1",
"protein_id": "ENSP00000613378.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943319.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943322.1",
"protein_id": "ENSP00000613381.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943322.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943331.1",
"protein_id": "ENSP00000613390.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943331.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943351.1",
"protein_id": "ENSP00000613410.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 542,
"cds_start": 901,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943351.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.898A>G",
"hgvs_p": "p.Lys300Glu",
"transcript": "ENST00000943335.1",
"protein_id": "ENSP00000613394.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 541,
"cds_start": 898,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943335.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943347.1",
"protein_id": "ENSP00000613406.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 519,
"cds_start": 901,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943347.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_172079.3",
"protein_id": "NP_742076.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 518,
"cds_start": 901,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172079.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_172080.3",
"protein_id": "NP_742077.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 517,
"cds_start": 901,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172080.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000700233.1",
"protein_id": "ENSP00000514871.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 516,
"cds_start": 901,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700233.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896827.1",
"protein_id": "ENSP00000566886.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 516,
"cds_start": 901,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896827.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896843.1",
"protein_id": "ENSP00000566902.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 516,
"cds_start": 901,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896843.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943356.1",
"protein_id": "ENSP00000613415.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 516,
"cds_start": 901,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943356.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_172081.3",
"protein_id": "NP_742078.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 503,
"cds_start": 901,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172081.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896836.1",
"protein_id": "ENSP00000566895.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 503,
"cds_start": 901,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896836.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896832.1",
"protein_id": "ENSP00000566891.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 502,
"cds_start": 901,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896832.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943328.1",
"protein_id": "ENSP00000613387.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 501,
"cds_start": 901,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943328.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896840.1",
"protein_id": "ENSP00000566899.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 494,
"cds_start": 901,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896840.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000943338.1",
"protein_id": "ENSP00000613397.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 493,
"cds_start": 901,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943338.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_172082.3",
"protein_id": "NP_742079.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 492,
"cds_start": 901,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172082.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_172083.3",
"protein_id": "NP_742080.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 479,
"cds_start": 901,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172083.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896825.1",
"protein_id": "ENSP00000566884.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 477,
"cds_start": 901,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896825.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "ENST00000896842.1",
"protein_id": "ENSP00000566901.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 477,
"cds_start": 901,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896842.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "NM_172084.3",
"protein_id": "NP_742081.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 449,
"cds_start": 901,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172084.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000470984.6",
"protein_id": "ENSP00000514879.1",
"transcript_support_level": 4,
"aa_start": 172,
"aa_end": null,
"aa_length": 413,
"cds_start": 514,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470984.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000497584.5",
"protein_id": "ENSP00000514873.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 413,
"cds_start": 514,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497584.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000700237.1",
"protein_id": "ENSP00000514876.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 413,
"cds_start": 514,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700237.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000700240.1",
"protein_id": "ENSP00000514880.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 398,
"cds_start": 514,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700240.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000700238.1",
"protein_id": "ENSP00000514877.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 389,
"cds_start": 514,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700238.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000700290.1",
"protein_id": "ENSP00000514921.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 388,
"cds_start": 514,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700290.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.511A>G",
"hgvs_p": "p.Lys171Glu",
"transcript": "ENST00000700288.1",
"protein_id": "ENSP00000514920.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 371,
"cds_start": 511,
"cds_end": null,
"cds_length": 1118,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700288.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Lys57Glu",
"transcript": "ENST00000433930.2",
"protein_id": "ENSP00000388951.2",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 310,
"cds_start": 169,
"cds_end": null,
"cds_length": 935,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433930.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000495819.6",
"protein_id": "ENSP00000514882.1",
"transcript_support_level": 4,
"aa_start": 172,
"aa_end": null,
"aa_length": 286,
"cds_start": 514,
"cds_end": null,
"cds_length": 863,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495819.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000700243.1",
"protein_id": "ENSP00000514883.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 271,
"cds_start": 514,
"cds_end": null,
"cds_length": 816,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700243.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Lys95Glu",
"transcript": "ENST00000700292.1",
"protein_id": "ENSP00000514923.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 219,
"cds_start": 283,
"cds_end": null,
"cds_length": 660,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700292.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "ENST00000700246.1",
"protein_id": "ENSP00000514885.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 176,
"cds_start": 514,
"cds_end": null,
"cds_length": 532,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700246.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515547.2",
"protein_id": "XP_011513849.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 709,
"cds_start": 901,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515547.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515549.2",
"protein_id": "XP_011513851.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 694,
"cds_start": 901,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515549.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515550.2",
"protein_id": "XP_011513852.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 685,
"cds_start": 901,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515550.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515551.2",
"protein_id": "XP_011513853.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 685,
"cds_start": 901,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515551.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515552.2",
"protein_id": "XP_011513854.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 684,
"cds_start": 901,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515552.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515553.2",
"protein_id": "XP_011513855.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 671,
"cds_start": 901,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515553.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_017012660.2",
"protein_id": "XP_016868149.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 670,
"cds_start": 901,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012660.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515554.2",
"protein_id": "XP_011513856.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 669,
"cds_start": 901,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515554.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515555.2",
"protein_id": "XP_011513857.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 666,
"cds_start": 901,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515555.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515556.2",
"protein_id": "XP_011513858.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 661,
"cds_start": 901,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515556.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515557.2",
"protein_id": "XP_011513859.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 660,
"cds_start": 901,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515557.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_017012661.2",
"protein_id": "XP_016868150.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 656,
"cds_start": 901,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012661.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_047420880.1",
"protein_id": "XP_047276836.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 642,
"cds_start": 901,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420880.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_024446945.2",
"protein_id": "XP_024302713.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 628,
"cds_start": 901,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446945.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_047420881.1",
"protein_id": "XP_047276837.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 627,
"cds_start": 901,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420881.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_006715781.3",
"protein_id": "XP_006715844.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 626,
"cds_start": 901,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715781.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_011515558.3",
"protein_id": "XP_011513860.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 607,
"cds_start": 901,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515558.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_017012662.2",
"protein_id": "XP_016868151.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 603,
"cds_start": 901,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012662.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_047420882.1",
"protein_id": "XP_047276838.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 589,
"cds_start": 901,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420882.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"transcript": "XM_011515559.3",
"protein_id": "XP_011513861.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 580,
"cds_start": 514,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515559.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_005249862.4",
"protein_id": "XP_005249919.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 527,
"cds_start": 901,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249862.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_006715784.3",
"protein_id": "XP_006715847.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 518,
"cds_start": 901,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715784.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_017012664.2",
"protein_id": "XP_016868153.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 502,
"cds_start": 901,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012664.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_005249864.4",
"protein_id": "XP_005249921.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 494,
"cds_start": 901,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249864.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_017012665.2",
"protein_id": "XP_016868154.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 493,
"cds_start": 901,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012665.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu",
"transcript": "XM_047420883.1",
"protein_id": "XP_047276839.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 434,
"cds_start": 901,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.901A>G",
"hgvs_p": null,
"transcript": "ENST00000353185.7",
"protein_id": "ENSP00000326600.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000353185.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.974A>G",
"hgvs_p": null,
"transcript": "ENST00000484972.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484972.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*441A>G",
"hgvs_p": null,
"transcript": "ENST00000523845.5",
"protein_id": "ENSP00000428912.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523845.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.37A>G",
"hgvs_p": null,
"transcript": "ENST00000700234.1",
"protein_id": "ENSP00000514872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.181A>G",
"hgvs_p": null,
"transcript": "ENST00000700236.1",
"protein_id": "ENSP00000514875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*346A>G",
"hgvs_p": null,
"transcript": "ENST00000700239.1",
"protein_id": "ENSP00000514878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*602A>G",
"hgvs_p": null,
"transcript": "ENST00000700241.1",
"protein_id": "ENSP00000514881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.962A>G",
"hgvs_p": null,
"transcript": "ENST00000700242.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000700242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.858A>G",
"hgvs_p": null,
"transcript": "ENST00000700244.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000700244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.781A>G",
"hgvs_p": null,
"transcript": "ENST00000700283.1",
"protein_id": "ENSP00000514916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700283.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1130A>G",
"hgvs_p": null,
"transcript": "ENST00000700284.1",
"protein_id": "ENSP00000514917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700284.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.1402A>G",
"hgvs_p": null,
"transcript": "ENST00000700286.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000700286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.646A>G",
"hgvs_p": null,
"transcript": "ENST00000700289.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000700289.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.793A>G",
"hgvs_p": null,
"transcript": "ENST00000700291.1",
"protein_id": "ENSP00000514922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*441A>G",
"hgvs_p": null,
"transcript": "ENST00000523845.5",
"protein_id": "ENSP00000428912.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523845.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*346A>G",
"hgvs_p": null,
"transcript": "ENST00000700239.1",
"protein_id": "ENSP00000514878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*602A>G",
"hgvs_p": null,
"transcript": "ENST00000700241.1",
"protein_id": "ENSP00000514881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1130A>G",
"hgvs_p": null,
"transcript": "ENST00000700284.1",
"protein_id": "ENSP00000514917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700284.1"
}
],
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"dbsnp": "rs1554385111",
"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": 0.8830066323280334,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.36399999260902405,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.558,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.848,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0775479742551127,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001220.5",
"gene_symbol": "CAMK2B",
"hgnc_id": 1461,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Lys301Glu"
}
],
"clinvar_disease": " autosomal dominant 54,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Intellectual disability, autosomal dominant 54|Inborn genetic diseases|Intellectual disability|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}