{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406646932", "communityStandardTitle": [ "NM_001184900.3(CARD8):c.306C>A (p.Phe102Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.48737704G>T?assembly=hg19", "id": "chr19:g.48737704G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.48234447G>T?assembly=hg38", "id": "chr19:g.48234447G>T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 48234447, "referenceAllele": "G", "start": 48234446 } ], "hgvs": [ "NC_000019.10:g.48234447G>T", "CM000681.2:g.48234447G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 48737704, "referenceAllele": "G", "start": 48737703 } ], "hgvs": [ "NC_000019.9:g.48737704G>T", "CM000681.1:g.48737704G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 53429516, "referenceAllele": "G", "start": 53429515 } ], "hgvs": [ "NC_000019.8:g.53429516G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 26500, "referenceAllele": "C", "start": 26499 } ], "hgvs": [ "NG_029574.1:g.26500C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004504" }, { "coordinates": [ { "allele": "A", "end": 26823, "referenceAllele": "C", "start": 26822 } ], "hgvs": [ "NG_029574.2:g.26823C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616310" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000519940.6:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000428883.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000428883.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS758666" }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000651546.1:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000499211.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000499211.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS771729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651546.1:c.306C>A" }, "RefSeq": { "hgvs": "NM_001184900.3:c.306C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000499211.1:p.Phe102Leu" }, "RefSeq": { "hgvs": "NP_001171829.1:p.Phe102Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000391898.7:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000375767.3:p.Phe102Leu", "hgvsWellDefined": "ENSP00000375767.3:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS274817" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000447740.6:c.156C>A" ], "proteinEffect": { "hgvs": "ENSP00000391248.2:p.Phe52Leu", "hgvsWellDefined": "ENSP00000391248.2:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS299396" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000517510.5:c.156C>A" ], "proteinEffect": { "hgvs": "ENSP00000428662.1:p.Phe52Leu", "hgvsWellDefined": "ENSP00000428662.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS345176" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000517778.5:n.441C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS345373" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000518596.5:n.421C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS346016" }, { "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000518622.5:c.156C>A" ], "proteinEffect": { "hgvs": "ENSP00000430057.1:p.Phe52Leu", "hgvsWellDefined": "ENSP00000430057.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS346033" }, { "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000518979.5:c.156C>A" ], "proteinEffect": { "hgvs": "ENSP00000430495.1:p.Phe52Leu", "hgvsWellDefined": "ENSP00000430495.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS346315" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000519302.6:c.156C>A" ], "proteinEffect": { "hgvs": "ENSP00000429741.1:p.Phe52Leu", "hgvsWellDefined": "ENSP00000429741.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS346569" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000519646.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000430836.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000430836.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS346856" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "C", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000519940.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000428883.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000428883.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS347087" }, { "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000520015.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000430747.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000430747.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS347147" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000520153.5:c.156C>A" ], "proteinEffect": { "hgvs": "ENSP00000428736.1:p.Phe52Leu", "hgvsWellDefined": "ENSP00000428736.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS347252" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000520753.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000429839.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000429839.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS347734" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000521092.5:n.386C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347996" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000521415.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000428862.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000428862.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS348241" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000521613.5:c.156C>A" ], "proteinEffect": { "hgvs": "ENSP00000427858.1:p.Phe52Leu", "hgvsWellDefined": "ENSP00000427858.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS348394" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000522051.5:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS348743" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000522068.5:n.447C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS348758" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000522773.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000429362.1:p.Phe102Leu", "hgvsWellDefined": "ENSP00000429362.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS349306" }, { "coordinates": [ { "allele": "A", "end": 18, "referenceAllele": "C", "start": 17 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "ENST00000523750.1:n.18C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350057" }, { "coordinates": [ { "allele": "T", "end": 44, "endIntronDirection": "-", "endIntronOffset": 3488, "referenceAllele": "G", "start": 44, "startIntronDirection": "-", "startIntronOffset": 3489 } ], "gene": "http://reg.genome.network/gene/GN012894", "geneNCBI_id": 163071, "geneSymbol": "ZNF114", "hgvs": [ "ENST00000597695.1:c.-211-3489G>T" ], "proteinEffect": { "hgvs": "ENSP00000472747.1:n.-211-3489G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS396075" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001184900.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001171829.1:p.Phe102Leu", "hgvsWellDefined": "NP_001171829.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS016031" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001184901.1:c.156C>A" ], "proteinEffect": { "hgvs": "NP_001171830.1:p.Phe52Leu", "hgvsWellDefined": "NP_001171830.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS016032" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001184902.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001171831.1:p.Phe102Leu", "hgvsWellDefined": "NP_001171831.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS016033" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "C", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001184903.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001171832.1:p.Phe102Leu", "hgvsWellDefined": "NP_001171832.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS016034" }, { "@id": "http://reg.genome.network/allele/PA3085847877", "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_014959.3:c.156C>A" ], "proteinEffect": { "hgvs": "NP_055774.2:p.Phe52Leu", "hgvsWellDefined": "NP_055774.2:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS033625" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NR_033678.1:n.310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS049073" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NR_033679.1:n.349C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS049074" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NR_033680.1:n.310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS049075" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723091.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723154.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723154.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074860" }, { "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "C", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723092.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723155.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723155.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074861" }, { "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723093.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723156.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723156.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074862" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723094.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723157.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723157.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074863" }, { "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723095.2:c.156C>A" ], "proteinEffect": { "hgvs": "XP_006723158.1:p.Phe52Leu", "hgvsWellDefined": "XP_006723158.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074864" }, { "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "C", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723096.2:c.156C>A" ], "proteinEffect": { "hgvs": "XP_006723159.1:p.Phe52Leu", "hgvsWellDefined": "XP_006723159.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074865" }, { "coordinates": [ { "allele": "A", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723097.2:c.156C>A" ], "proteinEffect": { "hgvs": "XP_006723160.1:p.Phe52Leu", "hgvsWellDefined": "XP_006723160.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074866" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723098.2:c.104C>A" ], "proteinEffect": { "hgvs": "XP_006723161.1:p.Ser35Tyr", "hgvsWellDefined": "XP_006723161.1:p.Ser35Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074867" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "C", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723099.2:c.104C>A" ], "proteinEffect": { "hgvs": "XP_006723162.1:p.Ser35Tyr", "hgvsWellDefined": "XP_006723162.1:p.Ser35Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074868" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723101.2:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723164.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723164.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074869" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723102.2:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723165.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723165.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074870" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723103.2:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723166.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723166.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074871" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723104.2:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723167.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723167.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074872" }, { "coordinates": [ { "allele": "A", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723106.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723169.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723169.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074873" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723107.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723170.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723170.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074874" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723109.2:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723172.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723172.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074875" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526641.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524943.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524943.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093743" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526642.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524944.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524944.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093744" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526643.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524945.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524945.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093745" }, { "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "C", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526644.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524946.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524946.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093746" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526645.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524947.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524947.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093747" }, { "coordinates": [ { "allele": "A", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526646.1:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011524948.1:p.Ser43Tyr", "hgvsWellDefined": "XP_011524948.1:p.Ser43Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS093748" }, { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526647.1:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011524949.1:p.Ser43Tyr", "hgvsWellDefined": "XP_011524949.1:p.Ser43Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS093749" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526648.1:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011524950.1:p.Ser43Tyr", "hgvsWellDefined": "XP_011524950.1:p.Ser43Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS093750" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526649.1:c.-183C>A" ], "proteinEffect": { "hgvs": "XP_011524951.1:n.-183C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS093751" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526650.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524952.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524952.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093752" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526651.1:c.32C>A" ], "proteinEffect": { "hgvs": "XP_011524953.1:p.Ser11Tyr", "hgvsWellDefined": "XP_011524953.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS093753" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526652.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524954.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524954.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093754" }, { "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526653.1:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011524955.1:p.Ser43Tyr", "hgvsWellDefined": "XP_011524955.1:p.Ser43Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS093755" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_430193.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118628" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935766.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131006" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935767.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131007" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935768.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131008" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935769.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131009" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935770.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131010" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935771.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131011" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935772.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131012" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935773.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131013" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_935774.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131014" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001184900.2:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001171829.1:p.Phe102Leu", "hgvsWellDefined": "NP_001171829.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511755" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351782.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001338711.1:p.Phe102Leu", "hgvsWellDefined": "NP_001338711.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS520451" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351783.1:c.156C>A" ], "proteinEffect": { "hgvs": "NP_001338712.1:p.Phe52Leu", "hgvsWellDefined": "NP_001338712.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS520452" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351784.1:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338713.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338713.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS520453" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351786.1:c.-183C>A" ], "proteinEffect": { "hgvs": "NP_001338715.1:n.-183C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520454" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351787.1:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338716.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338716.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS520455" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351788.1:c.156C>A" ], "proteinEffect": { "hgvs": "NP_001338717.1:p.Phe52Leu", "hgvsWellDefined": "NP_001338717.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS520456" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "C", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351789.1:c.156C>A" ], "proteinEffect": { "hgvs": "NP_001338718.1:p.Phe52Leu", "hgvsWellDefined": "NP_001338718.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS520457" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351790.1:c.104C>A" ], "proteinEffect": { "hgvs": "NP_001338719.1:p.Ser35Tyr", "hgvsWellDefined": "NP_001338719.1:p.Ser35Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS520458" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351791.1:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338720.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338720.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS520459" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351792.1:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338721.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338721.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS520460" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001365950.1:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001352879.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001352879.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS524339" }, { "@id": "http://reg.genome.network/allele/PA3085847877", "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_014959.4:c.156C>A" ], "proteinEffect": { "hgvs": "NP_055774.2:p.Phe52Leu", "hgvsWellDefined": "NP_055774.2:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS525638" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NR_147707.1:n.562C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530834" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723091.4:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723154.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723154.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540675" }, { "coordinates": [ { "allele": "A", "end": 1099, "referenceAllele": "C", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723092.4:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723155.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723155.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540676" }, { "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723093.4:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723156.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723156.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540677" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723094.4:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723157.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723157.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540678" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723096.4:c.156C>A" ], "proteinEffect": { "hgvs": "XP_006723159.1:p.Phe52Leu", "hgvsWellDefined": "XP_006723159.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540679" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723097.4:c.156C>A" ], "proteinEffect": { "hgvs": "XP_006723160.1:p.Phe52Leu", "hgvsWellDefined": "XP_006723160.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540680" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723098.3:c.104C>A" ], "proteinEffect": { "hgvs": "XP_006723161.1:p.Ser35Tyr", "hgvsWellDefined": "XP_006723161.1:p.Ser35Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540681" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723102.4:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723165.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723165.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540682" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723104.3:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723167.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723167.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540683" }, { "coordinates": [ { "allele": "A", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723106.4:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723169.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723169.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540684" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723107.3:c.306C>A" ], "proteinEffect": { "hgvs": "XP_006723170.1:p.Phe102Leu", "hgvsWellDefined": "XP_006723170.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540685" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_006723109.3:c.32C>A" ], "proteinEffect": { "hgvs": "XP_006723172.1:p.Ser11Tyr", "hgvsWellDefined": "XP_006723172.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540686" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526641.3:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524943.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524943.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS548340" }, { "coordinates": [ { "allele": "A", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526643.3:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524945.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524945.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS548341" }, { "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526644.3:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524946.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524946.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS548342" }, { "coordinates": [ { "allele": "A", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526646.3:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011524948.1:p.Ser43Tyr", "hgvsWellDefined": "XP_011524948.1:p.Ser43Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS548343" }, { "coordinates": [ { "allele": "A", "end": 965, "referenceAllele": "C", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526647.3:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011524949.1:p.Ser43Tyr", "hgvsWellDefined": "XP_011524949.1:p.Ser43Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS548344" }, { "coordinates": [ { "allele": "A", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526648.3:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011524950.1:p.Ser43Tyr", "hgvsWellDefined": "XP_011524950.1:p.Ser43Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS548345" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_011526650.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011524952.1:p.Phe102Leu", "hgvsWellDefined": "XP_011524952.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS548346" }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026482.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_016881971.1:p.Phe102Leu", "hgvsWellDefined": "XP_016881971.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576626" }, { "coordinates": [ { "allele": "A", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026483.2:c.156C>A" ], "proteinEffect": { "hgvs": "XP_016881972.1:p.Phe52Leu", "hgvsWellDefined": "XP_016881972.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576627" }, { "coordinates": [ { "allele": "A", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026484.2:c.156C>A" ], "proteinEffect": { "hgvs": "XP_016881973.1:p.Phe52Leu", "hgvsWellDefined": "XP_016881973.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576628" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026485.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_016881974.1:p.Phe102Leu", "hgvsWellDefined": "XP_016881974.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576629" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "C", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026487.2:c.-605C>A" ], "proteinEffect": { "hgvs": "XP_016881976.1:n.-605C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS576630" }, { "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026488.2:c.-183C>A" ], "proteinEffect": { "hgvs": "XP_016881977.1:n.-183C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS576631" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026492.2:c.156C>A" ], "proteinEffect": { "hgvs": "XP_016881981.1:p.Phe52Leu", "hgvsWellDefined": "XP_016881981.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576632" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026498.1:c.32C>A" ], "proteinEffect": { "hgvs": "XP_016881987.1:p.Ser11Tyr", "hgvsWellDefined": "XP_016881987.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS576633" }, { "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_017026499.1:c.-1934C>A" ], "proteinEffect": { "hgvs": "XP_016881988.1:n.-1934C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS576634" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_024451421.1:c.104C>A" ], "proteinEffect": { "hgvs": "XP_024307189.1:p.Ser35Tyr", "hgvsWellDefined": "XP_024307189.1:p.Ser35Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584937" }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_024451422.1:c.104C>A" ], "proteinEffect": { "hgvs": "XP_024307190.1:p.Ser35Tyr", "hgvsWellDefined": "XP_024307190.1:p.Ser35Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584938" }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_024451423.1:c.32C>A" ], "proteinEffect": { "hgvs": "XP_024307191.1:p.Ser11Tyr", "hgvsWellDefined": "XP_024307191.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584939" }, { "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_024451424.1:c.-1934C>A" ], "proteinEffect": { "hgvs": "XP_024307192.1:n.-1934C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS584940" }, { "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XM_024451425.1:c.-1512C>A" ], "proteinEffect": { "hgvs": "XP_024307193.1:n.-1512C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS584941" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_001753636.1:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600118" }, { "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_001753637.2:n.916C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600119" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "XR_430193.3:n.543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606767" }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001184900.3:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001171829.1:p.Phe102Leu", "hgvsWellDefined": "NP_001171829.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS663929", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651546.1:c.306C>A" }, "RefSeq": { "hgvs": "NM_001184900.3:c.306C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000499211.1:p.Phe102Leu" }, "RefSeq": { "hgvs": "NP_001171829.1:p.Phe102Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001184902.2:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001171831.1:p.Phe102Leu", "hgvsWellDefined": "NP_001171831.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679036" }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351782.2:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001338711.1:p.Phe102Leu", "hgvsWellDefined": "NP_001338711.1:p.Phe102Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688969" }, { "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351783.2:c.156C>A" ], "proteinEffect": { "hgvs": "NP_001338712.1:p.Phe52Leu", "hgvsWellDefined": "NP_001338712.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688970" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351784.2:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338713.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338713.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS688971" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351786.2:c.-183C>A" ], "proteinEffect": { "hgvs": "NP_001338715.1:n.-183C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS688972" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351788.2:c.156C>A" ], "proteinEffect": { "hgvs": "NP_001338717.1:p.Phe52Leu", "hgvsWellDefined": "NP_001338717.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688973" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351789.2:c.156C>A" ], "proteinEffect": { "hgvs": "NP_001338718.1:p.Phe52Leu", "hgvsWellDefined": "NP_001338718.1:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688974" }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351790.2:c.104C>A" ], "proteinEffect": { "hgvs": "NP_001338719.1:p.Ser35Tyr", "hgvsWellDefined": "NP_001338719.1:p.Ser35Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS688975" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351791.2:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338720.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338720.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS688976" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351792.2:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338721.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338721.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS688977" }, { "@id": "http://reg.genome.network/allele/PA3085847877", "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_014959.5:c.156C>A" ], "proteinEffect": { "hgvs": "NP_055774.2:p.Phe52Leu", "hgvsWellDefined": "NP_055774.2:p.Phe52Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS697402" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017057", "geneNCBI_id": 22900, "geneSymbol": "CARD8", "hgvs": [ "NM_001351787.2:c.32C>A" ], "proteinEffect": { "hgvs": "NP_001338716.1:p.Ser11Tyr", "hgvsWellDefined": "NP_001338716.1:p.Ser11Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS719904" } ], "type": "nucleotide" }