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"http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "XM_011512980.1:c.1519G>T" ], "proteinEffect": { "hgvs": "XP_011511282.1:p.Glu507Ter", "hgvsWellDefined": "XP_011511282.1:p.Glu507_Glu1264delinsCysLeuPheSerPheHisSerGlyAlaIleGluAlaValAlaValSerProLeuThrTyrLeuMetAlaThrThrAlaLeuAspCysSerValArgIleTyrAspPheAlaSerLysThrProLeuAlaGlnMetLysPheLysGlnGlyGlyThrAlaLeuValTrpValProArgMetValAsnPheThrGlyAlaGlnIleIleValGlyPheGluAspGlyValValArgIleLeuGluLeuTyrAspProLysGlyLeuThrIlePheAlaGlyArgLysLysIleLeuAspAlaAspIleGlnLeuLysGlnValPheLysProHisThrAlaCysValThrAlaLeuAlaTyrGluArgAspGlyGluIleLeuAlaThrGlySerLysAspGlnThrValPhePhePheGluValGluArgAspTyrLysProIleGlyTyrIleAsnThrProGlyProValCysGlnLeuMetTrpSerProMetSerHisProGluSerThrLeuLeuIleIleCysGluAsnGlyTyrIleLeuGluAlaProLeuProThrIleLysGlnGluGluAspAspHisAspValValSerTyrGluIleLysAspMetCysIleLysCysPheHisPheSerSerValLysSerLysIleLeuArgLeuIleGluIleGluLysArgGluArgGlnArgGluLeuLysGluLysIleArgGluGluArgArgAsnLysLeuAlaAlaGluMetGlyGluAspGlyGluLysGluPheGlnGluGluGluGluGluLysGluGluGluGluGluGluGluGluProLeuProGluIlePheIleProSerThrProSerProIleLeuCysGlyPheTyrSerGluProGlyLysPheTrpValSerLeuGlyGlyTyrAspSerGlyPheLeuTyrHisCysGluPheProProCysAspGluSerSerAspPheLysGluGlnLysAspGluProIleAspValArgTyrLeuAlaAspThrGluAspAsnProIleGlnThrIleThrPheAsnIleAsnLysValMetMetPheCysGlyMetLysAsnGlyAlaIleArgValTyrValLeuAsnGlnAsnAspProSerLeuThrSerLeuValAspTyrTrpHisPheAsnMetHisAspAsnAsnTyrGlyCysIleLysSerIleAlaAsnSerPheAspAspArgPheLeuValThrAlaGlyAlaAspGlyAsnIlePheValPheAsnIlePheSerGluPheMetLeuArgLysAspMetLysAlaLysValProSerProArgPheGlyIleGluThrGluProIleProGluAspIleGluAspProLysAlaTyrSerIleGluAsnAlaArgArgLysArgGluHisAspLysLeuMetLysGluValGlyGluIleLysAlaArgLysArgGluGlnIleLysAlaLeuArgSerGluPheCysAsnLeuLeuGluMetAsnGluLysLeuProLysHisMetGlnPheLysArgThrAspPheAspValAspSerGlnIleArgAlaGluMetHisArgLysThrAlaPheLysIleGlnGlnValGluLysGluLeuAlaTrpGluLysGluLysHisGluLeuGlyLeuMetLysLeuLysAsnArgPheArgAspProLeuGluSerAspThrIleValValHisAlaIleLeuSerAspHisLysIleSerSerTyrArgLeuValGlnProSerLysTyrSerLysPheLysArgAlaSerGlnSerGluArgLysProSerLysLeuAspArgPheGluLysGluGlyProGlyArgLysAspSerGlnArgAspAlaGlyGlySerValThrIleGlnGluGluSerIleIleGluLysGlyLysLysPheArgProLysThrLeuSerGluIleIleValGluAsnGlnIleGluLysThrArgLysLeuIleLeuLysAlaGluArgAlaGlnLeuLysIleGlnGlnArgLysLysGluTrpGluGluLeuTyrLysSerLysProGlyAspAspTyrGluAspProLysAspLeuGlnAlaIleLysGluAlaGlnValTyrMetGlyAspPheAsnLeuLysThrAlaProAspTyrLysIleProGluHisMetArgIleAsnAlaAlaLysLysGluGluGluLeuGlyHisLeuAspSerLeuArgValSerSerLeuAsnLysAlaProGlyArgThrSerMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080235" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "XM_011512981.1:c.1519G>T" ], "proteinEffect": { "hgvs": "XP_011511283.1:p.Glu507Ter", "hgvsWellDefined": "XP_011511283.1:p.Glu507_Asn1260delinsCysLeuPheSerPheHisSerGlyAlaIleGluAlaValAlaValSerProLeuThrTyrLeuMetAlaThrThrAlaLeuAspCysSerValArgIleTyrAspPheAlaSerLysThrProLeuAlaGlnMetLysPheLysGlnGlyGlyThrAlaLeuValTrpValProArgMetValAsnPheThrGlyAlaGlnIleIleValGlyPheGluAspGlyValValArgIleLeuGluLeuTyrAspProLysGlyLeuThrIlePheAlaGlyArgLysLysIleLeuAspAlaAspIleGlnLeuLysGlnValPheLysProHisThrAlaCysValThrAlaLeuAlaTyrGluArgAspGlyGluIleLeuAlaThrGlySerLysAspGlnThrValPhePhePheGluValGluArgAspTyrLysProIleGlyTyrIleAsnThrProGlyProValCysGlnLeuMetTrpSerProMetSerHisProGluSerThrLeuLeuIleIleCysGluAsnGlyTyrIleLeuGluAlaProLeuProThrIleLysGlnGluGluAspAspHisAspValValSerTyrGluIleLysAspMetCysIleLysCysPheHisPheSerSerValLysSerLysIleLeuArgLeuIleGluIleGluLysArgGluArgGlnArgGluLeuLysGluLysIleArgGluGluArgArgAsnLysLeuAlaAlaGluMetGlyGluAspGlyGluLysGluPheGlnGluGluGluGluGluLysGluGluGluGluGluGluGluGluProLeuProGluIlePheIleProSerThrProSerProIleLeuCysGlyPheTyrSerGluProGlyLysPheTrpValSerLeuGlyGlyTyrAspSerGlyPheLeuTyrHisCysGluPheProProCysAspGluSerSerAspPheLysGluGlnLysAspGluProIleAspValArgTyrLeuAlaAspThrGluAspAsnProIleGlnThrIleThrPheAsnIleAsnLysValMetMetPheCysGlyMetLysAsnGlyAlaIleArgValTyrValLeuAsnGlnAsnAspProSerLeuThrSerLeuValAspTyrTrpHisPheAsnMetHisAspAsnAsnTyrGlyCysIleLysSerIleAlaAsnSerPheAspAspArgPheLeuValThrAlaGlyAlaAspGlyAsnIlePheValPheAsnIlePheSerGluPheMetLeuArgLysAspMetLysAlaLysValProSerProArgPheGlyIleGluThrGluProIleProGluAspIleGluAspProLysAlaTyrSerIleGluAsnAlaArgArgLysArgGluHisAspLysLeuMetLysGluValGlyGluIleLysAlaArgLysArgGluGlnIleLysAlaLeuArgSerGluPheCysAsnLeuLeuGluMetAsnGluLysLeuProLysHisMetGlnPheLysArgThrAspPheAspValAspSerGlnIleArgAlaGluMetHisArgLysThrAlaPheLysIleGlnGlnValGluLysGluLeuAlaTrpGluLysGluLysHisGluLeuGlyLeuMetLysLeuLysAsnArgPheArgAspProLeuGluSerAspThrIleValValHisAlaIleLeuSerAspHisLysIleSerSerTyrArgLeuValGlnProSerLysTyrSerLysPheLysArgAlaSerGlnSerGluArgLysProSerLysLeuAspArgPheGluLysGluGlyProGlyArgLysAspSerGlnArgAspAlaGlyGlySerValThrIleGlnGluGluSerIleIleGluLysGlyLysLysPheArgProLysThrLeuSerGluIleIleValGluAsnGlnIleGluLysThrArgLysLeuIleLeuLysAlaGluArgAlaGlnLeuLysIleGlnGlnArgLysLysGluTrpGluGluLeuTyrLysSerLysProGlyAspAspTyrGluAspProLysAspLeuGlnAlaIleLysGluAlaGlnValTyrMetGlyAspPheAsnLeuLysThrAlaProAspTyrLysIleProGluHisMetArgIleAsnAlaAlaLysLysGluGluGluLeuGlyHisLeuAspSerLeuProValPheArgPheValTrpTyrLeuLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080236" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "XM_011512982.1:c.1519G>T" ], "proteinEffect": { "hgvs": "XP_011511284.1:p.Glu507Ter", "hgvsWellDefined": "XP_011511284.1:p.Glu507_Asn1260delinsCysLeuPheSerPheHisSerGlyAlaIleGluAlaValAlaValSerProLeuThrTyrLeuMetAlaThrThrAlaLeuAspCysSerValArgIleTyrAspPheAlaSerLysThrProLeuAlaGlnMetLysPheLysGlnGlyGlyThrAlaLeuValTrpValProArgMetValAsnPheThrGlyAlaGlnIleIleValGlyPheGluAspGlyValValArgIleLeuGluLeuTyrAspProLysGlyLeuThrIlePheAlaGlyArgLysLysIleLeuAspAlaAspIleGlnLeuLysGlnValPheLysProHisThrAlaCysValThrAlaLeuAlaTyrGluArgAspGlyGluIleLeuAlaThrGlySerLysAspGlnThrValPhePhePheGluValGluArgAspTyrLysProIleGlyTyrIleAsnThrProGlyProValCysGlnLeuMetTrpSerProMetSerHisProGluSerThrLeuLeuIleIleCysGluAsnGlyTyrIleLeuGluAlaProLeuProThrIleLysGlnGluGluAspAspHisAspValValSerTyrGluIleLysAspMetCysIleLysCysPheHisPheSerSerValLysSerLysIleLeuArgLeuIleGluIleGluLysArgGluArgGlnArgGluLeuLysGluLysIleArgGluGluArgArgAsnLysLeuAlaAlaGluMetGlyGluAspGlyGluLysGluPheGlnGluGluGluGluGluLysGluGluGluGluGluGluGluGluProLeuProGluIlePheIleProSerThrProSerProIleLeuCysGlyPheTyrSerGluProGlyLysPheTrpValSerLeuGlyGlyTyrAspSerGlyPheLeuTyrHisCysGluPheProProCysAspGluSerSerAspPheLysGluGlnLysAspGluProIleAspValArgTyrLeuAlaAspThrGluAspAsnProIleGlnThrIleThrPheAsnIleAsnLysValMetMetPheCysGlyMetLysAsnGlyAlaIleArgValTyrValLeuAsnGlnAsnAspProSerLeuThrSerLeuValAspTyrTrpHisPheAsnMetHisAspAsnAsnTyrGlyCysIleLysSerIleAlaAsnSerPheAspAspArgPheLeuValThrAlaGlyAlaAspGlyAsnIlePheValPheAsnIlePheSerGluPheMetLeuArgLysAspMetLysAlaLysValProSerProArgPheGlyIleGluThrGluProIleProGluAspIleGluAspProLysAlaTyrSerIleGluAsnAlaArgArgLysArgGluHisAspLysLeuMetLysGluValGlyGluIleLysAlaArgLysArgGluGlnIleLysAlaLeuArgSerGluPheCysAsnLeuLeuGluMetAsnGluLysLeuProLysHisMetGlnPheLysArgThrAspPheAspValAspSerGlnIleArgAlaGluMetHisArgLysThrAlaPheLysIleGlnGlnValGluLysGluLeuAlaTrpGluLysGluLysHisGluLeuGlyLeuMetLysLeuLysAsnArgPheArgAspProLeuGluSerAspThrIleValValHisAlaIleLeuSerAspHisLysIleSerSerTyrArgLeuValGlnProSerLysTyrSerLysPheLysArgAlaSerGlnSerGluArgLysProSerLysLeuAspArgPheGluLysGluGlyProGlyArgLysAspSerGlnArgAspAlaGlyGlySerValThrIleGlnGluGluSerIleIleGluLysGlyLysLysPheArgProLysThrLeuSerGluIleIleValGluAsnGlnIleGluLysThrArgLysLeuIleLeuLysAlaGluArgAlaGlnLeuLysIleGlnGlnArgLysLysGluTrpGluGluLeuTyrLysSerLysProGlyAspAspTyrGluAspProLysAspLeuGlnAlaIleLysGluAlaGlnValTyrMetGlyAspPheAsnLeuLysThrAlaProAspTyrLysIleProGluHisMetArgIleAsnAlaAlaLysLysGluGluGluLeuGlyHisLeuAspSerLeuProValPheArgPheValTrpTyrLeuLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080237" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "XM_011512983.1:c.1519G>T" ], "proteinEffect": { "hgvs": "XP_011511285.1:p.Glu507Ter", "hgvsWellDefined": "XP_011511285.1:p.Glu507_Lys1194delinsCysLeuPheSerPheHisSerGlyAlaIleGluAlaValAlaValSerProLeuThrTyrLeuMetAlaThrThrAlaLeuAspCysSerValArgIleTyrAspPheAlaSerLysThrProLeuAlaGlnMetLysPheLysGlnGlyGlyThrAlaLeuValTrpValProArgMetValAsnPheThrGlyAlaGlnIleIleValGlyPheGluAspGlyValValArgIleLeuGluLeuTyrAspProLysGlyLeuThrIlePheAlaGlyArgLysLysIleLeuAspAlaAspIleGlnLeuLysGlnValPheLysProHisThrAlaCysValThrAlaLeuAlaTyrGluArgAspGlyGluIleLeuAlaThrGlySerLysAspGlnThrValPhePhePheGluValGluArgAspTyrLysProIleGlyTyrIleAsnThrProGlyProValCysGlnLeuMetTrpSerProMetSerHisProGluSerThrLeuLeuIleIleCysGluAsnGlyTyrIleLeuGluAlaProLeuProThrIleLysGlnGluGluAspAspHisAspValValSerTyrGluIleLysAspMetCysIleLysCysPheHisPheSerSerValLysSerLysIleLeuArgLeuIleGluIleGluLysArgGluArgGlnArgGluLeuLysGluLysIleArgGluGluArgArgAsnLysLeuAlaAlaGluMetGlyGluAspGlyGluLysGluPheGlnGluGluGluGluGluLysGluGluGluGluGluGluGluGluProLeuProGluIlePheIleProSerThrProSerProIleLeuCysGlyPheTyrSerGluProGlyLysPheTrpValSerLeuGlyGlyTyrAspSerGlyPheLeuTyrHisCysGluPheProProCysAspGluSerSerAspPheLysGluGlnLysAspGluProIleAspValArgTyrLeuAlaAspThrGluAspAsnProIleGlnThrIleThrPheAsnIleAsnLysValMetMetPheCysGlyMetLysAsnGlyAlaIleArgValTyrValLeuAsnGlnAsnAspProSerLeuThrSerLeuValAspTyrTrpHisPheAsnMetHisAspAsnAsnTyrGlyCysIleLysSerIleAlaAsnSerPheAspAspArgPheLeuValThrAlaGlyAlaAspGlyAsnIlePheValPheAsnIlePheSerGluPheMetLeuArgLysAspMetLysAlaLysValProSerProArgPheGlyIleGluThrGluProIleProGluAspIleGluAspProLysAlaTyrSerIleGluAsnAlaArgArgLysArgGluHisAspLysLeuMetLysGluValGlyGluIleLysAlaArgLysArgGluGlnIleLysAlaLeuArgSerGluPheCysAsnLeuLeuGluMetAsnGluLysLeuProLysHisMetGlnPheLysArgThrAspPheAspValAspSerGlnIleArgAlaGluMetHisArgLysThrAlaPheLysIleGlnGlnValGluLysGluLeuAlaTrpGluLysGluLysHisGluLeuGlyLeuMetLysLeuLysAsnArgPheArgAspProLeuGluSerAspThrIleValValHisAlaIleLeuSerAspHisLysIleSerSerTyrArgLeuValGlnProSerLysTyrSerLysPheLysArgAlaSerGlnSerGluArgLysProSerLysLeuAspArgPheGluLysGluGlyProGlyArgLysAspSerGlnArgAspAlaGlyGlySerValThrIleGlnGluGluSerIleIleGluLysGlyLysLysPheArgProLysThrLeuSerGluIleIleValGluAsnGlnIleGluLysThrArgLysLeuIleLeuLysAlaGluArgAlaGlnLeuLysIleGlnGlnArgLysLysGluTrpGluGluLeuThrTyrSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080238" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "XM_011512984.1:c.1519G>T" ], "proteinEffect": { "hgvs": "XP_011511286.1:p.Glu507Ter", "hgvsWellDefined": "XP_011511286.1:p.Glu507_Glu1025delinsCysLeuPheSerPheHisSerGlyAlaIleGluAlaValAlaValSerProLeuThrTyrLeuMetAlaThrThrAlaLeuAspCysSerValArgIleTyrAspPheAlaSerLysThrProLeuAlaGlnMetLysPheLysGlnGlyGlyThrAlaLeuValTrpValProArgMetValAsnPheThrGlyAlaGlnIleIleValGlyPheGluAspGlyValValArgIleLeuGluLeuTyrAspProLysGlyLeuThrIlePheAlaGlyArgLysLysIleLeuAspAlaAspIleGlnLeuLysGlnValPheLysProHisThrAlaCysValThrAlaLeuAlaTyrGluArgAspGlyGluIleLeuAlaThrGlySerLysAspGlnThrValPhePhePheGluValGluArgAspTyrLysProIleGlyTyrIleAsnThrProGlyProValCysGlnLeuMetTrpSerProMetSerHisProGluSerThrLeuLeuIleIleCysGluAsnGlyTyrIleLeuGluAlaProLeuProThrIleLysGlnGluGluAspAspHisAspValValSerTyrGluIleLysAspMetCysIleLysCysPheHisPheSerSerValLysSerLysIleLeuArgLeuIleGluIleGluLysArgGluArgGlnArgGluLeuLysGluLysIleArgGluGluArgArgAsnLysLeuAlaAlaGluMetGlyGluAspGlyGluLysGluPheGlnGluGluGluGluGluLysGluGluGluGluGluGluGluGluProLeuProGluIlePheIleProSerThrProSerProIleLeuCysGlyPheTyrSerGluProGlyLysPheTrpValSerLeuGlyGlyTyrAspSerGlyPheLeuTyrHisCysGluPheProProCysAspGluSerSerAspPheLysGluGlnLysAspGluProIleAspValArgTyrLeuAlaAspThrGluAspAsnProIleGlnThrIleThrPheAsnIleAsnLysValMetMetPheCysGlyMetLysAsnGlyAlaIleArgValTyrValLeuAsnGlnAsnAspProSerLeuThrSerLeuValAspTyrTrpHisPheAsnMetHisAspAsnAsnTyrGlyCysIleLysSerIleAlaAsnSerPheAspAspArgPheLeuValThrAlaGlyAlaAspGlyAsnIlePheValPheAsnIlePheSerGluPheMetLeuArgLysAspMetLysAlaLysValProSerProArgPheGlyIleGluThrGluProIleProGluAspIleGluAspProLysAlaTyrSerIleGluAsnAlaArgArgLysArgGluHisAspLysLeuMetLysGluValGlyGluIleLysAlaArgLysArgGluGlnIleLysAlaLeuArgSerGluPheCysAsnLeuLeuGluMetAsnGluLysLeuProLysHisMetGlnPheLysArgThrArgHisGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080239" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "XR_427370.1:n.2044G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117710" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "XR_427371.2:n.2044G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117711" }, { "coordinates": [ { "allele": "T", "end": 1433, "referenceAllele": "G", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN025631", "geneNCBI_id": 55779, "geneSymbol": "CFAP44", "hgvs": [ "NM_001164496.2:c.1387G>T" ], "proteinEffect": { "hgvs": "NP_001157968.1:p.Glu463Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS663853", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393845.9:c.1387G>T" }, "RefSeq": { "hgvs": "NM_001164496.2:c.1387G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377428.2:p.Glu463Ter" }, "RefSeq": { "hgvs": "NP_001157968.1:p.Glu463Ter" } } } } ], "type": "nucleotide" }