{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16621814", "communityStandardTitle": [ "NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413658[alleleid]", "alleleId": 413658, "preferredName": "NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425324", "RCV": [ "RCV000488380", "RCV001293398", "RCV001199718" ], "variationId": 425324 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.647902G>T?assembly=hg19", "id": "chr4:g.647902G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.654113G>T?assembly=hg38", "id": "chr4:g.654113G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064797304", "rs": 1064797304 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 654113, "referenceAllele": "G", "start": 654112 } ], "hgvs": [ "NC_000004.12:g.654113G>T", "CM000666.2:g.654113G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 647902, "referenceAllele": "G", "start": 647901 } ], "hgvs": [ "NC_000004.11:g.647902G>T", "CM000666.1:g.647902G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 637902, "referenceAllele": "G", "start": 637901 } ], "hgvs": [ "NC_000004.10:g.637902G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 33540, "referenceAllele": "G", "start": 33539 } ], "hgvs": [ "NG_009839.1:g.33540G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001671" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000496514.6:c.886G>T" ], "proteinEffect": { "hgvs": "ENSP00000420295.1:p.Glu296Ter", "hgvsWellDefined": "ENSP00000420295.1:p.Glu296_Leu854delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757834", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000496514.6:c.886G>T" }, "RefSeq": { "hgvs": "NM_000283.4:c.886G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000420295.1:p.Glu296Ter" }, "RefSeq": { "hgvs": "NP_000274.3:p.Glu296Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "G", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000255622.10:c.886G>T" ], "proteinEffect": { "hgvs": "ENSP00000255622.6:p.Glu296Ter", "hgvsWellDefined": "ENSP00000255622.6:p.Glu296_Leu853delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250117" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "G", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000429163.6:c.49G>T" ], "proteinEffect": { "hgvs": "ENSP00000406334.2:p.Glu17Ter", "hgvsWellDefined": "ENSP00000406334.2:p.Glu17_Leu575delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290537" }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000465426.5:c.49G>T" ], "proteinEffect": { "hgvs": "ENSP00000418454.1:p.Glu17Ter", "hgvsWellDefined": "ENSP00000418454.1:p.Glu17_Leu42del" }, "referenceSequence": "http://reg.genome.network/refseq/RS309033" }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000467152.1:n.284G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310341" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000474251.5:n.337G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS315802" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000476034.5:n.456G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317185" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "G", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000487902.5:c.49G>T" ], "proteinEffect": { "hgvs": "ENSP00000418256.1:p.Glu17Ter", "hgvsWellDefined": "ENSP00000418256.1:p.Glu17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS326352" }, { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "ENST00000496514.5:c.886G>T" ], "proteinEffect": { "hgvs": "ENSP00000420295.1:p.Glu296Ter", "hgvsWellDefined": "ENSP00000420295.1:p.Glu296_Leu854delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS332956" }, { "@id": "http://reg.genome.network/allele/PA645494847", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_000283.3:c.886G>T" ], "proteinEffect": { "hgvs": "NP_000274.2:p.Glu296Ter", "hgvsWellDefined": "NP_000274.2:p.Glu296_Leu854delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrIleLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006344" }, { "@id": "http://reg.genome.network/allele/PA915982615", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145291.1:c.886G>T" ], "proteinEffect": { "hgvs": "NP_001138763.1:p.Glu296Ter", "hgvsWellDefined": "NP_001138763.1:p.Glu296_Leu853delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrIleLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013566" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145292.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001138764.1:p.Glu17Ter", "hgvsWellDefined": "NP_001138764.1:p.Glu17_Leu575delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrIleLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013567" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513473.1:c.1105G>T" ], "proteinEffect": { "hgvs": "XP_011511775.1:p.Glu369Ter", "hgvsWellDefined": "XP_011511775.1:p.Glu369_Lys941delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080720" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513474.1:c.1105G>T" ], "proteinEffect": { "hgvs": "XP_011511776.1:p.Glu369Ter", "hgvsWellDefined": "XP_011511776.1:p.Glu369_Leu927delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080721" }, { "coordinates": [ { "allele": "T", "end": 2311, "referenceAllele": "G", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513475.1:c.886G>T" ], "proteinEffect": { "hgvs": "XP_011511777.1:p.Glu296Ter", "hgvsWellDefined": "XP_011511777.1:p.Glu296_Lys868delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080722" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513476.1:c.1105G>T" ], "proteinEffect": { "hgvs": "XP_011511778.1:p.Glu369Ter", "hgvsWellDefined": "XP_011511778.1:p.Glu369_Lys857delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080723" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513477.1:c.-512G>T" ], "proteinEffect": { "hgvs": "XP_011511779.1:n.-512G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS080724" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513478.1:c.-855G>T" ], "proteinEffect": { "hgvs": "XP_011511780.1:n.-855G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS080725" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN040438", "geneNCBI_id": 101928521, "geneSymbol": "PDE6B-AS1", "hgvs": [ "XR_246615.2:n.966C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117222" }, { "coordinates": [ { "allele": "A", "end": 865, "endIntronDirection": "-", "endIntronOffset": 141, "referenceAllele": "C", "start": 865, "startIntronDirection": "-", "startIntronOffset": 142 } ], "gene": "http://reg.genome.network/gene/GN040438", "geneNCBI_id": 101928521, "geneSymbol": "PDE6B-AS1", "hgvs": [ "XR_925030.1:n.866-142C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS122031" }, { "@id": "http://reg.genome.network/allele/PA2827494661", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350154.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001337083.1:p.Glu17Ter", "hgvsWellDefined": "NP_001337083.1:p.Glu17_Lys589delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519158" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350155.1:c.-155G>T" ], "proteinEffect": { "hgvs": "NP_001337084.1:n.-155G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS519159" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513473.3:c.1105G>T" ], "proteinEffect": { "hgvs": "XP_011511775.1:p.Glu369Ter", "hgvsWellDefined": "XP_011511775.1:p.Glu369_Lys941delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542927" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513474.3:c.1105G>T" ], "proteinEffect": { "hgvs": "XP_011511776.1:p.Glu369Ter", "hgvsWellDefined": "XP_011511776.1:p.Glu369_Leu927delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542928" }, { "coordinates": [ { "allele": "T", "end": 2309, "referenceAllele": "G", "start": 2308 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513475.2:c.886G>T" ], "proteinEffect": { "hgvs": "XP_011511777.1:p.Glu296Ter", "hgvsWellDefined": "XP_011511777.1:p.Glu296_Lys868delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542929" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513476.3:c.1105G>T" ], "proteinEffect": { "hgvs": "XP_011511778.1:p.Glu369Ter", "hgvsWellDefined": "XP_011511778.1:p.Glu369_Lys857delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542930" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_011513478.2:c.-855G>T" ], "proteinEffect": { "hgvs": "XP_011511780.1:n.-855G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS542931" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_017008284.1:c.49G>T" ], "proteinEffect": { "hgvs": "XP_016863773.1:p.Glu17Ter", "hgvsWellDefined": "XP_016863773.1:p.Glu17_Lys589delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562820" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_017008285.1:c.49G>T" ], "proteinEffect": { "hgvs": "XP_016863774.1:p.Glu17Ter", "hgvsWellDefined": "XP_016863774.1:p.Glu17_Leu575delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562821" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_017008286.1:c.49G>T" ], "proteinEffect": { "hgvs": "XP_016863775.1:p.Glu17Ter", "hgvsWellDefined": "XP_016863775.1:p.Glu17_Leu575delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562822" }, { "coordinates": [ { "allele": "A", "end": 1107, "endIntronDirection": "-", "endIntronOffset": 141, "referenceAllele": "C", "start": 1107, "startIntronDirection": "-", "startIntronOffset": 142 } ], "gene": "http://reg.genome.network/gene/GN040438", "geneNCBI_id": 101928521, "geneSymbol": "PDE6B-AS1", "hgvs": [ "XR_001741541.1:n.1108-142C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591513" }, { "coordinates": [ { "allele": "A", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN040438", "geneNCBI_id": 101928521, "geneSymbol": "PDE6B-AS1", "hgvs": [ "XR_246615.3:n.1208C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606260" }, { "@id": "http://reg.genome.network/allele/PA2827494661", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350154.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001337083.1:p.Glu17Ter", "hgvsWellDefined": "NP_001337083.1:p.Glu17_Lys589delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688232" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350155.2:c.-155G>T" ], "proteinEffect": { "hgvs": "NP_001337084.1:n.-155G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS688233" }, { "@id": "http://reg.genome.network/allele/PA2825139692", "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_000283.4:c.886G>T" ], "proteinEffect": { "hgvs": "NP_000274.3:p.Glu296Ter", "hgvsWellDefined": "NP_000274.3:p.Glu296_Leu854delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710821", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000496514.6:c.886G>T" }, "RefSeq": { "hgvs": "NM_000283.4:c.886G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000420295.1:p.Glu296Ter" }, "RefSeq": { "hgvs": "NP_000274.3:p.Glu296Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573066120", "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145291.2:c.886G>T" ], "proteinEffect": { "hgvs": "NP_001138763.2:p.Glu296Ter", "hgvsWellDefined": "NP_001138763.2:p.Glu296_Leu853delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712791" }, { "@id": "http://reg.genome.network/allele/PA2825886107", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145292.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001138764.2:p.Glu17Ter", "hgvsWellDefined": "NP_001138764.2:p.Glu17_Leu575delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712792" }, { "@id": "http://reg.genome.network/allele/PA2827494661", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350154.3:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001337083.1:p.Glu17Ter", "hgvsWellDefined": "NP_001337083.1:p.Glu17_Lys589delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719479" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350155.3:c.-155G>T" ], "proteinEffect": { "hgvs": "NP_001337084.1:n.-155G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS719480" }, { "@id": "http://reg.genome.network/allele/PA2828816612", "coordinates": [ { "allele": "T", "end": 777, "referenceAllele": "G", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001379246.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001366175.1:p.Glu17Ter", "hgvsWellDefined": "NP_001366175.1:p.Glu17_Leu575delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721937" }, { "@id": "http://reg.genome.network/allele/PA2828817082", "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "G", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001379247.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001366176.1:p.Glu17Ter", "hgvsWellDefined": "NP_001366176.1:p.Glu17_Leu575delinsSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721938" } ], "type": "nucleotide" }