{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7267331", "communityStandardTitle": [ "NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360112[alleleid]", "alleleId": 360112, "preferredName": "NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372930", "RCV": [ "RCV000414128", "RCV001034174", "RCV002523924" ], "variationId": 372930 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-74766869-C-G", "id": "14-74766869-C-G", "variant": "14:74766869 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.74766869C>G?assembly=hg19", "id": "chr14:g.74766869C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.74300166C>G?assembly=hg38", "id": "chr14:g.74300166C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/147446660", "rs": 147446660 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-74766869-C-G?dataset=gnomad_r2_1", "id": "14-74766869-C-G", "variant": "14:74766869 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-74300166-C-G?dataset=gnomad_r3", "id": "14-74300166-C-G", "variant": "14:74300166 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-74300166-C-G?dataset=gnomad_r4", "id": "14-74300166-C-G", "variant": "14:74300166 C / G" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 74300166, "referenceAllele": "C", "start": 74300165 } ], "hgvs": [ "NC_000014.9:g.74300166C>G", "CM000676.2:g.74300166C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 74766869, "referenceAllele": "C", "start": 74766868 } ], "hgvs": [ "NC_000014.8:g.74766869C>G", "CM000676.1:g.74766869C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 73836622, "referenceAllele": "C", "start": 73836621 } ], "hgvs": [ "NC_000014.7:g.73836622C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "C", "end": 7899, "referenceAllele": "G", "start": 7898 } ], "hgvs": [ "NG_032875.1:g.7899G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS005248" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000356924.9:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000349396.4:p.Leu47Phe", "hgvsWellDefined": "ENSP00000349396.4:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS748864", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356924.9:c.141G>C" }, "RefSeq": { "hgvs": "NM_005050.4:c.141G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349396.4:p.Leu47Phe" }, "RefSeq": { "hgvs": "NP_005041.1:p.Leu47Phe" } } } }, { "coordinates": [ { "allele": "C", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000356924.8:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000349396.4:p.Leu47Phe", "hgvsWellDefined": "ENSP00000349396.4:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS263923" }, { "coordinates": [ { "allele": "C", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000460308.6:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000436527.2:p.Leu47Phe", "hgvsWellDefined": "ENSP00000436527.2:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS305065" }, { "coordinates": [ { "allele": "C", "end": 118, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 118, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000469672.5:c.39-491G>C" ], "proteinEffect": { "hgvs": "ENSP00000434626.1:n.39-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS312301" }, { "coordinates": [ { "allele": "C", "end": 188, "referenceAllele": "G", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000470637.1:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000432630.1:p.Leu47Phe", "hgvsWellDefined": "ENSP00000432630.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS313027" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000475240.5:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS316563" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000477803.5:n.216G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS318538" }, { "coordinates": [ { "allele": "C", "end": 166, "referenceAllele": "G", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000481935.5:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000436782.1:p.Leu47Phe", "hgvsWellDefined": "ENSP00000436782.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS321751" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000489207.1:n.226G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS327319" }, { "coordinates": [ { "allele": "C", "end": 121, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000493427.1:n.122-491G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS330577" }, { "coordinates": [ { "allele": "C", "end": 205, "referenceAllele": "G", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000493752.5:n.205G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS330839" }, { "coordinates": [ { "allele": "C", "end": 174, "referenceAllele": "G", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000553486.5:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000450611.1:p.Leu47Phe", "hgvsWellDefined": "ENSP00000450611.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS369891" }, { "coordinates": [ { "allele": "C", "end": 95, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 95, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000553745.5:c.39-491G>C" ], "proteinEffect": { "hgvs": "ENSP00000451778.1:n.39-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS370101" }, { "coordinates": [ { "allele": "C", "end": 147, "referenceAllele": "G", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000554453.5:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000451457.1:p.Leu47Phe", "hgvsWellDefined": "ENSP00000451457.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS370649" }, { "coordinates": [ { "allele": "C", "end": 85, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 85, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000555617.5:c.39-491G>C" ], "proteinEffect": { "hgvs": "ENSP00000451521.1:n.39-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS371577" }, { "coordinates": [ { "allele": "C", "end": 42, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 42, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000556119.5:c.39-491G>C" ], "proteinEffect": { "hgvs": "ENSP00000450491.1:n.39-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS371972" }, { "coordinates": [ { "allele": "C", "end": 36, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 36, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000556971.1:c.37-491G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS372640" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000557554.5:n.226G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS373123" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000557588.5:c.141G>C" ], "proteinEffect": { "hgvs": "ENSP00000451993.1:p.Leu47Phe", "hgvsWellDefined": "ENSP00000451993.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS373155" }, { "@id": "http://reg.genome.network/allele/PA645440597", "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_005050.3:c.141G>C" ], "proteinEffect": { "hgvs": "NP_005041.1:p.Leu47Phe", "hgvsWellDefined": "NP_005041.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS030179" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_003256.2:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS046236" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267938.3:c.141G>C" ], "proteinEffect": { "hgvs": "XP_005267995.1:p.Leu47Phe", "hgvsWellDefined": "XP_005267995.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS065555" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267939.2:c.-269G>C" ], "proteinEffect": { "hgvs": "XP_005267996.1:n.-269G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS065556" }, { "coordinates": [ { "allele": "C", "end": 60, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 60, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267940.2:c.-252-491G>C" ], "proteinEffect": { "hgvs": "XP_005267997.1:n.-252-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS065557" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267941.3:c.-141G>C" ], "proteinEffect": { "hgvs": "XP_005267998.1:n.-141G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS065558" }, { "coordinates": [ { "allele": "C", "end": 82, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 82, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267942.3:c.-124-2097G>C" ], "proteinEffect": { "hgvs": "XP_005267999.1:n.-124-2097G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS065559" }, { "coordinates": [ { "allele": "C", "end": 81, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 81, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267946.2:c.-192-2097G>C" ], "proteinEffect": { "hgvs": "XP_005268003.1:n.-192-2097G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS065560" }, { "coordinates": [ { "allele": "C", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267949.2:c.-197G>C" ], "proteinEffect": { "hgvs": "XP_005268006.1:n.-197G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS065561" }, { "coordinates": [ { "allele": "C", "end": 121, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_006720223.1:c.-104-491G>C" ], "proteinEffect": { "hgvs": "XP_006720286.1:n.-104-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS073555" }, { "coordinates": [ { "allele": "C", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_011537041.1:c.141G>C" ], "proteinEffect": { "hgvs": "XP_011535343.1:p.Leu47Phe", "hgvsWellDefined": "XP_011535343.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS104011" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_011537042.1:c.-69G>C" ], "proteinEffect": { "hgvs": "XP_011535344.1:n.-69G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS104012" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_245710.2:n.226G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS117024" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_943500.1:n.226G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS137523" }, { "@id": "http://reg.genome.network/allele/PA2827729884", "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353591.1:c.141G>C" ], "proteinEffect": { "hgvs": "NP_001340520.1:p.Leu47Phe", "hgvsWellDefined": "NP_001340520.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS521789" }, { "@id": "http://reg.genome.network/allele/PA2827730103", "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353592.1:c.141G>C" ], "proteinEffect": { "hgvs": "NP_001340521.1:p.Leu47Phe", "hgvsWellDefined": "NP_001340521.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS521790" }, { "coordinates": [ { "allele": "C", "end": 190, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 190, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353593.1:c.-104-491G>C" ], "proteinEffect": { "hgvs": "NP_001340522.1:n.-104-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521791" }, { "coordinates": [ { "allele": "C", "end": 190, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 190, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353594.1:c.-104-491G>C" ], "proteinEffect": { "hgvs": "NP_001340523.1:n.-104-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521792" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353595.1:c.-269G>C" ], "proteinEffect": { "hgvs": "NP_001340524.1:n.-269G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521793" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353596.1:c.-141G>C" ], "proteinEffect": { "hgvs": "NP_001340525.1:n.-141G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521794" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353597.1:c.-141G>C" ], "proteinEffect": { "hgvs": "NP_001340526.1:n.-141G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521795" }, { "coordinates": [ { "allele": "C", "end": 190, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 190, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353598.1:c.-192-2097G>C" ], "proteinEffect": { "hgvs": "NP_001340527.1:n.-192-2097G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521796" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353599.1:c.-197G>C" ], "proteinEffect": { "hgvs": "NP_001340528.1:n.-197G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521797" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353600.1:c.-209G>C" ], "proteinEffect": { "hgvs": "NP_001340529.1:n.-209G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521798" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353601.1:c.-69G>C" ], "proteinEffect": { "hgvs": "NP_001340530.1:n.-69G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521799" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353602.1:c.-549G>C" ], "proteinEffect": { "hgvs": "NP_001340531.1:n.-549G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521800" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353603.1:c.-426G>C" ], "proteinEffect": { "hgvs": "NP_001340532.1:n.-426G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521801" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353604.1:c.-286G>C" ], "proteinEffect": { "hgvs": "NP_001340533.1:n.-286G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521802" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353605.1:c.-554G>C" ], "proteinEffect": { "hgvs": "NP_001340534.1:n.-554G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521803" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353606.1:c.-426G>C" ], "proteinEffect": { "hgvs": "NP_001340535.1:n.-426G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521804" }, { "coordinates": [ { "allele": "C", "end": 190, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 190, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353607.1:c.-409-2097G>C" ], "proteinEffect": { "hgvs": "NP_001340536.1:n.-409-2097G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521805" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353608.1:c.-409G>C" ], "proteinEffect": { "hgvs": "NP_001340537.1:n.-409G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521806" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353609.1:c.-554G>C" ], "proteinEffect": { "hgvs": "NP_001340538.1:n.-554G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521807" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353610.1:c.-554G>C" ], "proteinEffect": { "hgvs": "NP_001340539.1:n.-554G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521808" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020324.2:c.-197G>C" ], "proteinEffect": { "hgvs": "NP_064720.1:n.-197G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS525965" }, { "@id": "http://reg.genome.network/allele/PA916073648", "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020325.2:c.141G>C" ], "proteinEffect": { "hgvs": "NP_064730.1:p.Leu47Phe", "hgvsWellDefined": "NP_064730.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS525966" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148466.1:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531184" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148467.1:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531185" }, { "coordinates": [ { "allele": "C", "end": 190, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 190, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148468.1:n.191-2097G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531186" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148469.1:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531187" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148470.1:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531188" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148471.1:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531189" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148472.1:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531190" }, { "coordinates": [ { "allele": "C", "end": 190, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 190, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148473.1:n.191-491G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531191" }, { "coordinates": [ { "allele": "C", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148474.1:n.293G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531192" }, { "coordinates": [ { "allele": "C", "end": 121, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267940.3:c.-252-491G>C" ], "proteinEffect": { "hgvs": "XP_005267997.1:n.-252-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS536485" }, { "coordinates": [ { "allele": "C", "end": 91, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 91, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267942.4:c.-124-2097G>C" ], "proteinEffect": { "hgvs": "XP_005267999.1:n.-124-2097G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS536486" }, { "coordinates": [ { "allele": "C", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_011537041.2:c.141G>C" ], "proteinEffect": { "hgvs": "XP_011535343.1:p.Leu47Phe", "hgvsWellDefined": "XP_011535343.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS552729" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021531.2:c.141G>C" ], "proteinEffect": { "hgvs": "XP_016877020.1:p.Leu47Phe", "hgvsWellDefined": "XP_016877020.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS572707" }, { "coordinates": [ { "allele": "C", "end": 52, "referenceAllele": "G", "start": 51 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021534.1:c.-327G>C" ], "proteinEffect": { "hgvs": "XP_016877023.1:n.-327G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS572708" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021539.1:c.-421G>C" ], "proteinEffect": { "hgvs": "XP_016877028.1:n.-421G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS572709" }, { "coordinates": [ { "allele": "C", "end": 100, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 100, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021540.2:c.-397-491G>C" ], "proteinEffect": { "hgvs": "XP_016877029.1:n.-397-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS572710" }, { "coordinates": [ { "allele": "C", "end": 195, "referenceAllele": "G", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021541.2:c.-428G>C" ], "proteinEffect": { "hgvs": "XP_016877030.1:n.-428G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS572711" }, { "coordinates": [ { "allele": "C", "end": 85, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 85, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021542.1:c.-271-491G>C" ], "proteinEffect": { "hgvs": "XP_016877031.1:n.-271-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS572712" }, { "coordinates": [ { "allele": "C", "end": 121, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449675.1:c.-104-491G>C" ], "proteinEffect": { "hgvs": "XP_024305443.1:n.-104-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS583222" }, { "coordinates": [ { "allele": "C", "end": 100, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 100, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449676.1:c.-180-491G>C" ], "proteinEffect": { "hgvs": "XP_024305444.1:n.-180-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS583223" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449677.1:c.-69G>C" ], "proteinEffect": { "hgvs": "XP_024305445.1:n.-69G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS583224" }, { "coordinates": [ { "allele": "C", "end": 52, "referenceAllele": "G", "start": 51 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449678.1:c.-414G>C" ], "proteinEffect": { "hgvs": "XP_024305446.1:n.-414G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS583225" }, { "coordinates": [ { "allele": "C", "end": 80, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 80, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449679.1:c.-411-491G>C" ], "proteinEffect": { "hgvs": "XP_024305447.1:n.-411-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS583226" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750476.2:n.216G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597748" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750478.2:n.216G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597749" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750480.2:n.216G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597750" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750481.2:n.216G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597751" }, { "coordinates": [ { "allele": "C", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750482.1:n.291G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597752" }, { "coordinates": [ { "allele": "C", "end": 224, "referenceAllele": "G", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750484.1:n.224G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597753" }, { "coordinates": [ { "allele": "C", "end": 205, "referenceAllele": "G", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_002957565.1:n.205G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS603699" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_245710.4:n.216G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS606193" }, { "coordinates": [ { "allele": "C", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_943500.3:n.216G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS613432" }, { "@id": "http://reg.genome.network/allele/PA645440597", "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_005050.4:c.141G>C" ], "proteinEffect": { "hgvs": "NP_005041.1:p.Leu47Phe", "hgvsWellDefined": "NP_005041.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS666788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356924.9:c.141G>C" }, "RefSeq": { "hgvs": "NM_005050.4:c.141G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349396.4:p.Leu47Phe" }, "RefSeq": { "hgvs": "NP_005041.1:p.Leu47Phe" } } } }, { "@id": "http://reg.genome.network/allele/PA2827729884", "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353591.2:c.141G>C" ], "proteinEffect": { "hgvs": "NP_001340520.1:p.Leu47Phe", "hgvsWellDefined": "NP_001340520.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS689797" }, { "@id": "http://reg.genome.network/allele/PA2827730103", "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353592.2:c.141G>C" ], "proteinEffect": { "hgvs": "NP_001340521.1:p.Leu47Phe", "hgvsWellDefined": "NP_001340521.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS689798" }, { "coordinates": [ { "allele": "C", "end": 60, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 60, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353593.2:c.-104-491G>C" ], "proteinEffect": { "hgvs": "NP_001340522.1:n.-104-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689799" }, { "coordinates": [ { "allele": "C", "end": 60, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 60, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353594.2:c.-104-491G>C" ], "proteinEffect": { "hgvs": "NP_001340523.1:n.-104-491G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689800" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353595.2:c.-269G>C" ], "proteinEffect": { "hgvs": "NP_001340524.1:n.-269G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689801" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353596.2:c.-141G>C" ], "proteinEffect": { "hgvs": "NP_001340525.1:n.-141G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689802" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353597.2:c.-141G>C" ], "proteinEffect": { "hgvs": "NP_001340526.1:n.-141G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689803" }, { "coordinates": [ { "allele": "C", "end": 60, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 60, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353598.2:c.-192-2097G>C" ], "proteinEffect": { "hgvs": "NP_001340527.1:n.-192-2097G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689804" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353599.2:c.-197G>C" ], "proteinEffect": { "hgvs": "NP_001340528.1:n.-197G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689805" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353600.2:c.-209G>C" ], "proteinEffect": { "hgvs": "NP_001340529.1:n.-209G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689806" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353601.2:c.-69G>C" ], "proteinEffect": { "hgvs": "NP_001340530.1:n.-69G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689807" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353602.2:c.-549G>C" ], "proteinEffect": { "hgvs": "NP_001340531.1:n.-549G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689808" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353603.2:c.-426G>C" ], "proteinEffect": { "hgvs": "NP_001340532.1:n.-426G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689809" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353604.2:c.-286G>C" ], "proteinEffect": { "hgvs": "NP_001340533.1:n.-286G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689810" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353605.2:c.-554G>C" ], "proteinEffect": { "hgvs": "NP_001340534.1:n.-554G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689811" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353606.2:c.-426G>C" ], "proteinEffect": { "hgvs": "NP_001340535.1:n.-426G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689812" }, { "coordinates": [ { "allele": "C", "end": 60, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 60, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353607.2:c.-409-2097G>C" ], "proteinEffect": { "hgvs": "NP_001340536.1:n.-409-2097G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689813" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353608.2:c.-409G>C" ], "proteinEffect": { "hgvs": "NP_001340537.1:n.-409G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689814" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353609.2:c.-554G>C" ], "proteinEffect": { "hgvs": "NP_001340538.1:n.-554G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689815" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353610.2:c.-554G>C" ], "proteinEffect": { "hgvs": "NP_001340539.1:n.-554G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689816" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020324.3:c.-197G>C" ], "proteinEffect": { "hgvs": "NP_064720.1:n.-197G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS698215" }, { "@id": "http://reg.genome.network/allele/PA916073648", "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020325.3:c.141G>C" ], "proteinEffect": { "hgvs": "NP_064730.1:p.Leu47Phe", "hgvsWellDefined": "NP_064730.1:p.Leu47Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS698216" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_003256.3:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS701830" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148466.2:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704762" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148467.2:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704763" }, { "coordinates": [ { "allele": "C", "end": 60, "endIntronDirection": "-", "endIntronOffset": 2096, "referenceAllele": "G", "start": 60, "startIntronDirection": "-", "startIntronOffset": 2097 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148468.2:n.61-2097G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704764" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148469.2:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704765" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148470.2:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704766" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148471.2:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704767" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148472.2:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704768" }, { "coordinates": [ { "allele": "C", "end": 60, "endIntronDirection": "-", "endIntronOffset": 490, "referenceAllele": "G", "start": 60, "startIntronDirection": "-", "startIntronOffset": 491 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148473.2:n.61-491G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704769" }, { "coordinates": [ { "allele": "C", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148474.2:n.163G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704770" } ], "type": "nucleotide" }