← 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: 2-85661480-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85661480&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85661480,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000542.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "NM_000542.5",
"protein_id": "NP_000533.4",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": "ENST00000519937.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000542.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000519937.7",
"protein_id": "ENSP00000428719.2",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": "NM_000542.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519937.7"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000393822.7",
"protein_id": "ENSP00000377409.4",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393822.7"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000409383.7",
"protein_id": "ENSP00000386346.2",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409383.7"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1211A>T",
"hgvs_p": "p.Asp404Val",
"transcript": "ENST00000860691.1",
"protein_id": "ENSP00000530750.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 405,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860691.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1211A>T",
"hgvs_p": "p.Asp404Val",
"transcript": "ENST00000860727.1",
"protein_id": "ENSP00000530786.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 405,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860727.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1199A>T",
"hgvs_p": "p.Asp400Val",
"transcript": "ENST00000954883.1",
"protein_id": "ENSP00000624942.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 401,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954883.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1199A>T",
"hgvs_p": "p.Asp400Val",
"transcript": "ENST00000954901.1",
"protein_id": "ENSP00000624960.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 401,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954901.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1199A>T",
"hgvs_p": "p.Asp400Val",
"transcript": "ENST00000954904.1",
"protein_id": "ENSP00000624963.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 401,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954904.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1193A>T",
"hgvs_p": "p.Asp398Val",
"transcript": "ENST00000954890.1",
"protein_id": "ENSP00000624949.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 399,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954890.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1193A>T",
"hgvs_p": "p.Asp398Val",
"transcript": "ENST00000954907.1",
"protein_id": "ENSP00000624966.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 399,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954907.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1181A>T",
"hgvs_p": "p.Asp394Val",
"transcript": "ENST00000954932.1",
"protein_id": "ENSP00000624991.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 395,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954932.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1172A>T",
"hgvs_p": "p.Asp391Val",
"transcript": "ENST00000860698.1",
"protein_id": "ENSP00000530757.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 392,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860698.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1172A>T",
"hgvs_p": "p.Asp391Val",
"transcript": "ENST00000860721.1",
"protein_id": "ENSP00000530780.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 392,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860721.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "NM_198843.3",
"protein_id": "NP_942140.3",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198843.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860670.1",
"protein_id": "ENSP00000530729.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860670.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860672.1",
"protein_id": "ENSP00000530731.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860672.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860673.1",
"protein_id": "ENSP00000530732.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860673.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860674.1",
"protein_id": "ENSP00000530733.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860674.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860682.1",
"protein_id": "ENSP00000530741.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860682.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860683.1",
"protein_id": "ENSP00000530742.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860683.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860699.1",
"protein_id": "ENSP00000530758.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860699.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860705.1",
"protein_id": "ENSP00000530764.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860705.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860708.1",
"protein_id": "ENSP00000530767.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860708.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860710.1",
"protein_id": "ENSP00000530769.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860710.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860720.1",
"protein_id": "ENSP00000530779.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860720.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000860728.1",
"protein_id": "ENSP00000530787.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860728.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000954881.1",
"protein_id": "ENSP00000624940.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954881.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000954882.1",
"protein_id": "ENSP00000624941.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954882.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000954884.1",
"protein_id": "ENSP00000624943.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954884.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000954886.1",
"protein_id": "ENSP00000624945.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954886.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000954944.1",
"protein_id": "ENSP00000625003.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954944.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val",
"transcript": "ENST00000954946.1",
"protein_id": "ENSP00000625005.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 381,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954946.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860671.1",
"protein_id": "ENSP00000530730.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860671.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860675.1",
"protein_id": "ENSP00000530734.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860675.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860676.1",
"protein_id": "ENSP00000530735.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860676.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860694.1",
"protein_id": "ENSP00000530753.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860694.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860695.1",
"protein_id": "ENSP00000530754.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860695.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860700.1",
"protein_id": "ENSP00000530759.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860700.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860707.1",
"protein_id": "ENSP00000530766.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860707.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860713.1",
"protein_id": "ENSP00000530772.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860713.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860717.1",
"protein_id": "ENSP00000530776.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860717.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000860726.1",
"protein_id": "ENSP00000530785.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860726.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000954899.1",
"protein_id": "ENSP00000624958.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954899.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000954940.1",
"protein_id": "ENSP00000624999.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954940.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "ENST00000954942.1",
"protein_id": "ENSP00000625001.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954942.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1124A>T",
"hgvs_p": "p.Asp375Val",
"transcript": "ENST00000954913.1",
"protein_id": "ENSP00000624972.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 376,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954913.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1118A>T",
"hgvs_p": "p.Asp373Val",
"transcript": "ENST00000954936.1",
"protein_id": "ENSP00000624995.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 374,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954936.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1115A>T",
"hgvs_p": "p.Asp372Val",
"transcript": "ENST00000428225.5",
"protein_id": "ENSP00000415347.1",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 373,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428225.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1112A>T",
"hgvs_p": "p.Asp371Val",
"transcript": "ENST00000860684.1",
"protein_id": "ENSP00000530743.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 372,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860684.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1112A>T",
"hgvs_p": "p.Asp371Val",
"transcript": "ENST00000860715.1",
"protein_id": "ENSP00000530774.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 372,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860715.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1112A>T",
"hgvs_p": "p.Asp371Val",
"transcript": "ENST00000954945.1",
"protein_id": "ENSP00000625004.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 372,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954945.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1100A>T",
"hgvs_p": "p.Asp367Val",
"transcript": "ENST00000860724.1",
"protein_id": "ENSP00000530783.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 368,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860724.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1100A>T",
"hgvs_p": "p.Asp367Val",
"transcript": "ENST00000954929.1",
"protein_id": "ENSP00000624988.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 368,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954929.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1091A>T",
"hgvs_p": "p.Asp364Val",
"transcript": "ENST00000860690.1",
"protein_id": "ENSP00000530749.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 365,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860690.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1091A>T",
"hgvs_p": "p.Asp364Val",
"transcript": "ENST00000860703.1",
"protein_id": "ENSP00000530762.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 365,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860703.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1091A>T",
"hgvs_p": "p.Asp364Val",
"transcript": "ENST00000954915.1",
"protein_id": "ENSP00000624974.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 365,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954915.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1091A>T",
"hgvs_p": "p.Asp364Val",
"transcript": "ENST00000954920.1",
"protein_id": "ENSP00000624979.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 365,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954920.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1088A>T",
"hgvs_p": "p.Asp363Val",
"transcript": "ENST00000954924.1",
"protein_id": "ENSP00000624983.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 364,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954924.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1088A>T",
"hgvs_p": "p.Asp363Val",
"transcript": "ENST00000954938.1",
"protein_id": "ENSP00000624997.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 364,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954938.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1082A>T",
"hgvs_p": "p.Asp361Val",
"transcript": "ENST00000954917.1",
"protein_id": "ENSP00000624976.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 362,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954917.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1079A>T",
"hgvs_p": "p.Asp360Val",
"transcript": "ENST00000860706.1",
"protein_id": "ENSP00000530765.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 361,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860706.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1079A>T",
"hgvs_p": "p.Asp360Val",
"transcript": "ENST00000954900.1",
"protein_id": "ENSP00000624959.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 361,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954900.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1079A>T",
"hgvs_p": "p.Asp360Val",
"transcript": "ENST00000954912.1",
"protein_id": "ENSP00000624971.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 361,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954912.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1070A>T",
"hgvs_p": "p.Asp357Val",
"transcript": "ENST00000954905.1",
"protein_id": "ENSP00000624964.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 358,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954905.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1067A>T",
"hgvs_p": "p.Asp356Val",
"transcript": "ENST00000954925.1",
"protein_id": "ENSP00000624984.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 357,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954925.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1058A>T",
"hgvs_p": "p.Asp353Val",
"transcript": "ENST00000954902.1",
"protein_id": "ENSP00000624961.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 354,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954902.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1058A>T",
"hgvs_p": "p.Asp353Val",
"transcript": "ENST00000954922.1",
"protein_id": "ENSP00000624981.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 354,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954922.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1058A>T",
"hgvs_p": "p.Asp353Val",
"transcript": "ENST00000954926.1",
"protein_id": "ENSP00000624985.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 354,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954926.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1055A>T",
"hgvs_p": "p.Asp352Val",
"transcript": "ENST00000954931.1",
"protein_id": "ENSP00000624990.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 353,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954931.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Asp350Val",
"transcript": "ENST00000860678.1",
"protein_id": "ENSP00000530737.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 351,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860678.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Asp350Val",
"transcript": "ENST00000860709.1",
"protein_id": "ENSP00000530768.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 351,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860709.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Asp350Val",
"transcript": "ENST00000860725.1",
"protein_id": "ENSP00000530784.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 351,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860725.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Asp350Val",
"transcript": "ENST00000954879.1",
"protein_id": "ENSP00000624938.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 351,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954879.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Asp350Val",
"transcript": "ENST00000954887.1",
"protein_id": "ENSP00000624946.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 351,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954887.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Asp350Val",
"transcript": "ENST00000954914.1",
"protein_id": "ENSP00000624973.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 351,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954914.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Asp350Val",
"transcript": "ENST00000954939.1",
"protein_id": "ENSP00000624998.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 351,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954939.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1046A>T",
"hgvs_p": "p.Asp349Val",
"transcript": "ENST00000954923.1",
"protein_id": "ENSP00000624982.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 350,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954923.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1037A>T",
"hgvs_p": "p.Asp346Val",
"transcript": "ENST00000860679.1",
"protein_id": "ENSP00000530738.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 347,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860679.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1037A>T",
"hgvs_p": "p.Asp346Val",
"transcript": "ENST00000860711.1",
"protein_id": "ENSP00000530770.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 347,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860711.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1037A>T",
"hgvs_p": "p.Asp346Val",
"transcript": "ENST00000954937.1",
"protein_id": "ENSP00000624996.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 347,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954937.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1013A>T",
"hgvs_p": "p.Asp338Val",
"transcript": "ENST00000860681.1",
"protein_id": "ENSP00000530740.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 339,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860681.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1013A>T",
"hgvs_p": "p.Asp338Val",
"transcript": "ENST00000860712.1",
"protein_id": "ENSP00000530771.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 339,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860712.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1013A>T",
"hgvs_p": "p.Asp338Val",
"transcript": "ENST00000860714.1",
"protein_id": "ENSP00000530773.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 339,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860714.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1013A>T",
"hgvs_p": "p.Asp338Val",
"transcript": "ENST00000954895.1",
"protein_id": "ENSP00000624954.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 339,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954895.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1007A>T",
"hgvs_p": "p.Asp336Val",
"transcript": "ENST00000954927.1",
"protein_id": "ENSP00000624986.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 337,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954927.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1007A>T",
"hgvs_p": "p.Asp336Val",
"transcript": "ENST00000954935.1",
"protein_id": "ENSP00000624994.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 337,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954935.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1001A>T",
"hgvs_p": "p.Asp334Val",
"transcript": "ENST00000860722.1",
"protein_id": "ENSP00000530781.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 335,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860722.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1001A>T",
"hgvs_p": "p.Asp334Val",
"transcript": "ENST00000954885.1",
"protein_id": "ENSP00000624944.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 335,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954885.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1001A>T",
"hgvs_p": "p.Asp334Val",
"transcript": "ENST00000954888.1",
"protein_id": "ENSP00000624947.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 335,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954888.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.950A>T",
"hgvs_p": "p.Asp317Val",
"transcript": "ENST00000860697.1",
"protein_id": "ENSP00000530756.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 318,
"cds_start": 950,
"cds_end": null,
"cds_length": 957,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860697.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.950A>T",
"hgvs_p": "p.Asp317Val",
"transcript": "ENST00000954892.1",
"protein_id": "ENSP00000624951.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 318,
"cds_start": 950,
"cds_end": null,
"cds_length": 957,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954892.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.950A>T",
"hgvs_p": "p.Asp317Val",
"transcript": "ENST00000954928.1",
"protein_id": "ENSP00000624987.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 318,
"cds_start": 950,
"cds_end": null,
"cds_length": 957,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954928.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.941A>T",
"hgvs_p": "p.Asp314Val",
"transcript": "ENST00000954894.1",
"protein_id": "ENSP00000624953.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 315,
"cds_start": 941,
"cds_end": null,
"cds_length": 948,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954894.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.941A>T",
"hgvs_p": "p.Asp314Val",
"transcript": "ENST00000954906.1",
"protein_id": "ENSP00000624965.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 315,
"cds_start": 941,
"cds_end": null,
"cds_length": 948,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954906.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.941A>T",
"hgvs_p": "p.Asp314Val",
"transcript": "ENST00000954919.1",
"protein_id": "ENSP00000624978.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 315,
"cds_start": 941,
"cds_end": null,
"cds_length": 948,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954919.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.938A>T",
"hgvs_p": "p.Asp313Val",
"transcript": "ENST00000954909.1",
"protein_id": "ENSP00000624968.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 314,
"cds_start": 938,
"cds_end": null,
"cds_length": 945,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954909.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.929A>T",
"hgvs_p": "p.Asp310Val",
"transcript": "ENST00000954891.1",
"protein_id": "ENSP00000624950.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 311,
"cds_start": 929,
"cds_end": null,
"cds_length": 936,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954891.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.929A>T",
"hgvs_p": "p.Asp310Val",
"transcript": "ENST00000954910.1",
"protein_id": "ENSP00000624969.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 311,
"cds_start": 929,
"cds_end": null,
"cds_length": 936,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954910.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.911A>T",
"hgvs_p": "p.Asp304Val",
"transcript": "ENST00000954893.1",
"protein_id": "ENSP00000624952.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 305,
"cds_start": 911,
"cds_end": null,
"cds_length": 918,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954893.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.902A>T",
"hgvs_p": "p.Asp301Val",
"transcript": "ENST00000954921.1",
"protein_id": "ENSP00000624980.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 302,
"cds_start": 902,
"cds_end": null,
"cds_length": 909,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954921.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.890A>T",
"hgvs_p": "p.Asp297Val",
"transcript": "ENST00000954898.1",
"protein_id": "ENSP00000624957.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 298,
"cds_start": 890,
"cds_end": null,
"cds_length": 897,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954898.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asp296Val",
"transcript": "ENST00000954934.1",
"protein_id": "ENSP00000624993.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 297,
"cds_start": 887,
"cds_end": null,
"cds_length": 894,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954934.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.848A>T",
"hgvs_p": "p.Asp283Val",
"transcript": "ENST00000954918.1",
"protein_id": "ENSP00000624977.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 284,
"cds_start": 848,
"cds_end": null,
"cds_length": 855,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954918.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Asp275Val",
"transcript": "ENST00000860680.1",
"protein_id": "ENSP00000530739.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 276,
"cds_start": 824,
"cds_end": null,
"cds_length": 831,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860680.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Asp275Val",
"transcript": "ENST00000860685.1",
"protein_id": "ENSP00000530744.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 276,
"cds_start": 824,
"cds_end": null,
"cds_length": 831,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860685.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Asp275Val",
"transcript": "ENST00000860696.1",
"protein_id": "ENSP00000530755.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 276,
"cds_start": 824,
"cds_end": null,
"cds_length": 831,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860696.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Asp275Val",
"transcript": "ENST00000860718.1",
"protein_id": "ENSP00000530777.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 276,
"cds_start": 824,
"cds_end": null,
"cds_length": 831,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860718.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Asp275Val",
"transcript": "ENST00000954908.1",
"protein_id": "ENSP00000624967.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 276,
"cds_start": 824,
"cds_end": null,
"cds_length": 831,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954908.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Asp275Val",
"transcript": "ENST00000954943.1",
"protein_id": "ENSP00000625002.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 276,
"cds_start": 824,
"cds_end": null,
"cds_length": 831,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954943.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asp271Val",
"transcript": "ENST00000860687.1",
"protein_id": "ENSP00000530746.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 272,
"cds_start": 812,
"cds_end": null,
"cds_length": 819,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860687.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asp271Val",
"transcript": "ENST00000860689.1",
"protein_id": "ENSP00000530748.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 272,
"cds_start": 812,
"cds_end": null,
"cds_length": 819,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860689.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asp271Val",
"transcript": "ENST00000954897.1",
"protein_id": "ENSP00000624956.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 272,
"cds_start": 812,
"cds_end": null,
"cds_length": 819,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954897.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asp271Val",
"transcript": "ENST00000954916.1",
"protein_id": "ENSP00000624975.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 272,
"cds_start": 812,
"cds_end": null,
"cds_length": 819,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954916.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.809A>T",
"hgvs_p": "p.Asp270Val",
"transcript": "ENST00000860693.1",
"protein_id": "ENSP00000530752.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 271,
"cds_start": 809,
"cds_end": null,
"cds_length": 816,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860693.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.809A>T",
"hgvs_p": "p.Asp270Val",
"transcript": "ENST00000954889.1",
"protein_id": "ENSP00000624948.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 271,
"cds_start": 809,
"cds_end": null,
"cds_length": 816,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954889.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.794A>T",
"hgvs_p": "p.Asp265Val",
"transcript": "ENST00000860716.1",
"protein_id": "ENSP00000530775.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 266,
"cds_start": 794,
"cds_end": null,
"cds_length": 801,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860716.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.Asp251Val",
"transcript": "ENST00000860692.1",
"protein_id": "ENSP00000530751.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 252,
"cds_start": 752,
"cds_end": null,
"cds_length": 759,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860692.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.Asp251Val",
"transcript": "ENST00000860704.1",
"protein_id": "ENSP00000530763.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 252,
"cds_start": 752,
"cds_end": null,
"cds_length": 759,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860704.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.Asp251Val",
"transcript": "ENST00000860723.1",
"protein_id": "ENSP00000530782.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 252,
"cds_start": 752,
"cds_end": null,
"cds_length": 759,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860723.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "ENST00000954941.1",
"protein_id": "ENSP00000625000.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 249,
"cds_start": 743,
"cds_end": null,
"cds_length": 750,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954941.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.740A>T",
"hgvs_p": "p.Asp247Val",
"transcript": "ENST00000860701.1",
"protein_id": "ENSP00000530760.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 248,
"cds_start": 740,
"cds_end": null,
"cds_length": 747,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860701.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.734A>T",
"hgvs_p": "p.Asp245Val",
"transcript": "ENST00000860677.1",
"protein_id": "ENSP00000530736.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 246,
"cds_start": 734,
"cds_end": null,
"cds_length": 741,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860677.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.734A>T",
"hgvs_p": "p.Asp245Val",
"transcript": "ENST00000860688.1",
"protein_id": "ENSP00000530747.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 246,
"cds_start": 734,
"cds_end": null,
"cds_length": 741,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860688.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.734A>T",
"hgvs_p": "p.Asp245Val",
"transcript": "ENST00000860719.1",
"protein_id": "ENSP00000530778.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 246,
"cds_start": 734,
"cds_end": null,
"cds_length": 741,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860719.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.734A>T",
"hgvs_p": "p.Asp245Val",
"transcript": "ENST00000954903.1",
"protein_id": "ENSP00000624962.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 246,
"cds_start": 734,
"cds_end": null,
"cds_length": 741,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954903.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.734A>T",
"hgvs_p": "p.Asp245Val",
"transcript": "ENST00000954930.1",
"protein_id": "ENSP00000624989.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 246,
"cds_start": 734,
"cds_end": null,
"cds_length": 741,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954930.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.722A>T",
"hgvs_p": "p.Asp241Val",
"transcript": "ENST00000860686.1",
"protein_id": "ENSP00000530745.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 242,
"cds_start": 722,
"cds_end": null,
"cds_length": 729,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860686.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.722A>T",
"hgvs_p": "p.Asp241Val",
"transcript": "ENST00000860702.1",
"protein_id": "ENSP00000530761.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 242,
"cds_start": 722,
"cds_end": null,
"cds_length": 729,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860702.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.722A>T",
"hgvs_p": "p.Asp241Val",
"transcript": "ENST00000954880.1",
"protein_id": "ENSP00000624939.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 242,
"cds_start": 722,
"cds_end": null,
"cds_length": 729,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954880.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.722A>T",
"hgvs_p": "p.Asp241Val",
"transcript": "ENST00000954896.1",
"protein_id": "ENSP00000624955.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 242,
"cds_start": 722,
"cds_end": null,
"cds_length": 729,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954896.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.722A>T",
"hgvs_p": "p.Asp241Val",
"transcript": "ENST00000954911.1",
"protein_id": "ENSP00000624970.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 242,
"cds_start": 722,
"cds_end": null,
"cds_length": 729,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954911.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.662A>T",
"hgvs_p": "p.Asp221Val",
"transcript": "ENST00000954933.1",
"protein_id": "ENSP00000624992.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 222,
"cds_start": 662,
"cds_end": null,
"cds_length": 669,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954933.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.269A>T",
"hgvs_p": "p.Asp90Val",
"transcript": "ENST00000494165.1",
"protein_id": "ENSP00000476194.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 91,
"cds_start": 269,
"cds_end": null,
"cds_length": 276,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494165.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1175A>T",
"hgvs_p": "p.Asp392Val",
"transcript": "XM_047445414.1",
"protein_id": "XP_047301370.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 393,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445414.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "XM_005264488.5",
"protein_id": "XP_005264545.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264488.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1127A>T",
"hgvs_p": "p.Asp376Val",
"transcript": "XM_047445415.1",
"protein_id": "XP_047301371.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 377,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1002+1866A>T",
"hgvs_p": null,
"transcript": "NM_001367281.1",
"protein_id": "NP_001354210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367281.1"
}
],
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"dbsnp": null,
"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": 0.201332688331604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.122,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000542.5",
"gene_symbol": "SFTPB",
"hgnc_id": 10801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1139A>T",
"hgvs_p": "p.Asp380Val"
}
],
"clinvar_disease": "Hereditary pulmonary alveolar proteinosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary pulmonary alveolar proteinosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}