{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368158754", "communityStandardTitle": [ "NM_194454.3(KRIT1):c.780C>A (p.Tyr260Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.91864187G>T?assembly=hg19", "id": "chr7:g.91864187G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92234873G>T?assembly=hg38", "id": "chr7:g.92234873G>T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 92234873, "referenceAllele": "G", "start": 92234872 } ], "hgvs": [ "NC_000007.14:g.92234873G>T", "CM000669.2:g.92234873G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91864187, "referenceAllele": "G", "start": 91864186 } ], "hgvs": [ "NC_000007.13:g.91864187G>T", "CM000669.1:g.91864187G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91702123, "referenceAllele": "G", "start": 91702122 } ], "hgvs": [ "NC_000007.12:g.91702123G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 16228, "referenceAllele": "C", "start": 16227 } ], "hgvs": [ "NG_012964.1:g.16228C>A", "LRG_650:g.16228C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002634" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3941, "referenceAllele": "C", "start": 3940 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425073.2:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000404790.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000404790.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824766" }, { "coordinates": [ { "allele": "A", "end": 1949, "referenceAllele": "C", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000410104.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000410104.2:p.Tyr260_Ser483delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuArgMetMetPhePheArgProSerThrGlnThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824846" }, { "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000444960.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000388076.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000388076.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824957" }, { "coordinates": [ { "allele": "A", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.2:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000404084.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000404084.2:p.Tyr260_Ser526delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnLeuLeuMetLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824964" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000405835.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000405835.2:p.Tyr260_Ser582delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825048" }, { "coordinates": [ { "allele": "A", "end": 1461, "referenceAllele": "C", "start": 1460 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.7:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825091" }, { "coordinates": [ { "allele": "A", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "hgvs": [ "ENST00000458493.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000396352.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000396352.2:p.Tyr260_Phe896delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspGluLysIleLeuGluLysIlePheLysIleValAlaAsnAsnIleThrGluThrAsnPheGluPheLeuCysGlnLysLeuAsnLeuAlaAsnSerGluThrAspMetProThrLysSerThrValSerLeuSerGluArgAlaHisGlnAlaLeuValIleTrpLysThrGlnSerAsnLysLeuSerLeuThrAlaAlaAlaLeuArgAspGlnLeuIleArgAlaLeuThrMetIleGlyAlaTyrGluIleMetAspLysIleThrAlaLeuAsnLeuPheThrArgAlaIleLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825095" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.6:n.1011C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825265" }, { "coordinates": [ { "allele": "A", "end": 1282, "referenceAllele": "C", "start": 1281 } ], "hgvs": [ "ENST00000650585.2:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000498010.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000498010.2:p.Tyr260_His799delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826807" }, { "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000684808.1:c.*287C>A" ], "proteinEffect": { "hgvs": "ENSP00000508621.1:n.*287C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829744" }, { "coordinates": [ { "allele": "A", "end": 1749, "referenceAllele": "C", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685285.1:n.1749C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829988" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685431.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509995.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509995.1:p.Tyr260_Phe629delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830070" }, { "coordinates": [ { "allele": "A", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686043.1:c.*43C>A" ], "proteinEffect": { "hgvs": "ENSP00000510108.1:n.*43C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830373" }, { "coordinates": [ { "allele": "A", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686094.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000510015.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000510015.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830397" }, { "coordinates": [ { "allele": "A", "end": 2259, "referenceAllele": "C", "start": 2258 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686149.1:n.2259C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830422" }, { "coordinates": [ { "allele": "A", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686233.1:n.1168C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830468" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686527.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509139.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509139.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830615" }, { "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "C", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686619.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509512.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509512.1:p.Tyr260_Val424delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProLeuSerPheLeuValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830662" }, { "coordinates": [ { "allele": "A", "end": 1079, "endIntronDirection": "+", "endIntronOffset": 530, "referenceAllele": "C", "start": 1079, "startIntronDirection": "+", "startIntronOffset": 529 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686785.1:c.*178+530C>A" ], "proteinEffect": { "hgvs": "ENSP00000508596.1:n.*178+530C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830741" }, { "coordinates": [ { "allele": "A", "end": 1385, "referenceAllele": "C", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687135.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509617.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509617.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830925" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687627.1:n.1270C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831182" }, { "coordinates": [ { "allele": "A", "end": 1664, "referenceAllele": "C", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687876.1:c.*287C>A" ], "proteinEffect": { "hgvs": "ENSP00000509086.1:n.*287C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831306" }, { "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "C", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688196.1:n.1140C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831492" }, { "coordinates": [ { "allele": "A", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688314.1:c.*43C>A" ], "proteinEffect": { "hgvs": "ENSP00000510229.1:n.*43C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831557" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688404.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509939.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509939.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831610" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688665.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509209.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509209.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831752" }, { "coordinates": [ { "allele": "A", "end": 1887, "referenceAllele": "C", "start": 1886 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688766.1:n.1887C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831803" }, { "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "C", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688781.1:c.*590C>A" ], "proteinEffect": { "hgvs": "ENSP00000510196.1:n.*590C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831816" }, { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "C", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689082.1:n.1602C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831978" }, { "coordinates": [ { "allele": "A", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689411.1:n.2715C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832156" }, { "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "C", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689539.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000510360.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000510360.1:p.Tyr260_Phe677delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832228" }, { "coordinates": [ { "allele": "A", "end": 1317, "referenceAllele": "C", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689556.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000508543.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000508543.1:p.Tyr260_Ser688delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832238" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689778.1:n.1319C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832359" }, { "coordinates": [ { "allele": "A", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690292.1:c.*415C>A" ], "proteinEffect": { "hgvs": "ENSP00000510303.1:n.*415C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832635" }, { "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690529.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000510733.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000510733.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832745" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690720.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509832.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509832.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832846" }, { "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690751.1:c.*287C>A" ], "proteinEffect": { "hgvs": "ENSP00000509101.1:n.*287C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832859" }, { "coordinates": [ { "allele": "A", "end": 1945, "endIntronDirection": "+", "endIntronOffset": 530, "referenceAllele": "C", "start": 1945, "startIntronDirection": "+", "startIntronOffset": 529 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690904.1:n.1945+530C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832937" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690908.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000510110.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000510110.1:p.Tyr260_Ser688delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832940" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691239.1:c.743C>A" ], "proteinEffect": { "hgvs": "ENSP00000508475.1:p.Thr248Asn", "hgvsWellDefined": "ENSP00000508475.1:p.Thr248Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS833117" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691622.1:n.1270C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833300" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691827.1:c.*590C>A" ], "proteinEffect": { "hgvs": "ENSP00000508551.1:n.*590C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833399" }, { "coordinates": [ { "allele": "A", "end": 1540, "referenceAllele": "C", "start": 1539 } ], "hgvs": [ "ENST00000691972.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000510591.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000510591.1:p.Tyr260_His799delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833472" }, { "coordinates": [ { "allele": "A", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692000.1:n.1923C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833487" }, { "coordinates": [ { "allele": "A", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692157.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000509514.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000509514.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833571" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692205.1:n.1157C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833598" }, { "coordinates": [ { "allele": "A", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "hgvs": [ "ENST00000692281.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000510568.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000510568.1:p.Tyr260_Lys1120delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLysSerProProTyrIlePheSerProIleProPheLeuGlyHisAlaIleAlaPheGlyLysSerProIleGluPheLeuGluAsnAlaTyrGluLysTyrGlyProValPheSerPheThrMetValGlyLysThrPheThrTyrLeuLeuGlySerAspAlaAlaAlaLeuLeuPheAsnSerLysAsnGluAspLeuAsnAlaGluAspValTyrSerArgLeuThrThrProValPheGlyLysGlyValAlaTyrAspValProAsnProValPheLeuGluGlnLysLysMetLeuLysSerGlyLeuAsnIleAlaHisPheLysGlnHisValSerIleIleGluLysGluThrLysGluTyrPheGluSerTrpGlyGluSerGlyGluLysAsnValPheGluAlaLeuSerGluLeuIleIleLeuThrAlaSerHisCysLeuHisGlyLysGluIleArgSerGlnLeuAsnGluLysValAlaGlnLeuTyrAlaAspLeuAspGlyGlyPheSerHisAlaAlaTrpLeuLeuProGlyTrpLeuProLeuProSerPheArgArgArgAspArgAlaHisArgGluIleLysAspIlePheTyrLysAlaIleGlnLysArgArgGlnSerGlnGluLysIleAspAspIleLeuGlnThrLeuLeuAspAlaThrTyrLysAspGlyArgProLeuThrAspAspGluValAlaGlyMetLeuIleGlyLeuLeuLeuAlaGlyGlnHisThrSerSerThrThrSerAlaTrpMetGlyPhePheLeuAlaArgAspLysThrLeuGlnLysLysCysTyrLeuGluGlnLysThrValCysGlyGluAsnLeuProProLeuThrTyrAspGlnLeuLysAspLeuAsnLeuLeuAspArgCysIleLysGluThrLeuArgLeuArgProProIleMetIleMetMetArgMetAlaArgThrProGlnThrValAlaGlyTyrThrIleProProGlyHisGlnValCysValSerProThrValAsnGlnArgLeuLysAspSerTrpValGluArgLeuAspPheAsnProAspArgTyrLeuGlnAspAsnProAlaSerGlyGluLysPheAlaTyrValProPheGlyAlaGlyArgHisArgCysIleGlyGluAsnPheAlaTyrValGlnIleLysThrIleTrpSerThrMetLeuArgLeuTyrGluPheAspLeuIleAspGlyTyrPheProThrValAsnTyrThrThrMetIleHisThrProGluAsnProValIleArgTyrLysArgArgSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833638" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692361.1:n.1157C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833682" }, { "coordinates": [ { "allele": "A", "end": 3046, "referenceAllele": "C", "start": 3045 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692428.1:n.3046C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833716" }, { "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "C", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692690.1:c.*287C>A" ], "proteinEffect": { "hgvs": "ENSP00000509642.1:n.*287C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833834" }, { "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "C", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692807.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000508564.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000508564.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833900" }, { "coordinates": [ { "allele": "A", "end": 2821, "referenceAllele": "C", "start": 2820 } ], "hgvs": [ "ENST00000693096.1:n.2821C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834060" }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000693563.1:c.*43C>A" ], "proteinEffect": { "hgvs": "ENSP00000510120.1:n.*43C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834312" }, { "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "C", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.7:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.780C>A" }, "RefSeq": { "hgvs": "NM_194454.3:c.780C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Tyr260Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Tyr260Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756625" }, { "coordinates": [ { "allele": "A", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "hgvs": [ "ENST00000650585.1:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000498010.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000498010.1:p.Tyr260_Lys708del" }, "referenceSequence": "http://reg.genome.network/refseq/RS771194" }, { "coordinates": [ { "allele": "A", "end": 1799, "referenceAllele": "C", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000340022.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000344668.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000344668.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261003" }, { "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394503.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000378011.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000378011.2:p.Tyr260_Ser688delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276194" }, { "coordinates": [ { "allele": "A", "end": 1334, "referenceAllele": "C", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276195" }, { "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394507.5:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000378015.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000378015.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276196" }, { "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "C", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000412043.6:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000410909.2:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000410909.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282437" }, { "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.1:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000404084.1:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000404084.1:p.Tyr22Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS298317" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.5:n.422C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316976" }, { "coordinates": [ { "allele": "A", "end": 1411, "referenceAllele": "C", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000486261.5:n.1411C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325108" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000611677.4:c.780C>A" ], "proteinEffect": { "hgvs": "ENSP00000478777.1:p.Tyr260Ter", "hgvsWellDefined": "ENSP00000478777.1:p.Tyr260_Leu565delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnSerLeuTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400961" }, { "@id": "http://reg.genome.network/allele/PA2825316935", "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001013424.1:p.Tyr260_Ser688delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008403" }, { "@id": "http://reg.genome.network/allele/PA2829579365", "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.3:c.780C>A" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Tyr260Ter", "hgvsWellDefined": "NP_004903.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030049" }, { "@id": "http://reg.genome.network/allele/PA2830425725", "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "C", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Tyr260Ter", "hgvsWellDefined": "NP_919436.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044364" }, { "@id": "http://reg.genome.network/allele/PA2830425852", "coordinates": [ { "allele": "A", "end": 1799, "referenceAllele": "C", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194455.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_919437.1:p.Tyr260Ter", "hgvsWellDefined": "NP_919437.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044365" }, { "@id": "http://reg.genome.network/allele/PA2580554778", "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194456.1:c.780C>A", "LRG_650t1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_919438.1:p.Tyr260Ter", "hgvsWellDefined": "NP_919438.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044366" }, { "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250660.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250717.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250717.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059246" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250662.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250719.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250719.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059247" }, { "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250664.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250721.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250721.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059248" }, { "coordinates": [ { "allele": "A", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250665.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250722.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250722.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059249" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250723.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059250" }, { "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250667.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250724.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250724.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059251" }, { "coordinates": [ { "allele": "A", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250668.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250725.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250725.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059252" }, { "coordinates": [ { "allele": "A", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250669.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250726.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250726.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059253" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716160.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_006716223.1:p.Tyr260Ter", "hgvsWellDefined": "XP_006716223.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071530" }, { "coordinates": [ { "allele": "A", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716161.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_006716224.1:p.Tyr260Ter", "hgvsWellDefined": "XP_006716224.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071531" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Tyr260Ter", "hgvsWellDefined": "XP_006716225.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071532" }, { "coordinates": [ { "allele": "A", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716163.2:c.780C>A" ], "proteinEffect": { "hgvs": "XP_006716226.1:p.Tyr260Ter", "hgvsWellDefined": "XP_006716226.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071533" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514953.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083851" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516652.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514954.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514954.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083852" }, { "coordinates": [ { "allele": "A", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516653.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514955.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514955.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083853" }, { "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514956.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083854" }, { "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514957.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083855" }, { "coordinates": [ { "allele": "A", "end": 1040, "referenceAllele": "C", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516656.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514958.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514958.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083856" }, { "coordinates": [ { "allele": "A", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516657.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514959.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514959.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083857" }, { "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "C", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514960.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083858" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514961.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083859" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514962.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083860" }, { "coordinates": [ { "allele": "A", "end": 805, "referenceAllele": "C", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516661.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514963.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514963.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083861" }, { "@id": "http://reg.genome.network/allele/PA2825316935", "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.2:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001013424.1:p.Tyr260_Ser688delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511027" }, { "@id": "http://reg.genome.network/allele/PA2827559312", "coordinates": [ { "allele": "A", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350669.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337598.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337598.1:p.Tyr260_Ser688delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519552" }, { "@id": "http://reg.genome.network/allele/PA2827559580", "coordinates": [ { "allele": "A", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350670.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337599.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337599.1:p.Tyr260_Ser688delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519553" }, { "@id": "http://reg.genome.network/allele/PA2827559757", "coordinates": [ { "allele": "A", "end": 1557, "referenceAllele": "C", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350671.1:c.66C>A" ], "proteinEffect": { "hgvs": "NP_001337600.1:p.Tyr22Ter", "hgvsWellDefined": "NP_001337600.1:p.Tyr22_Ser498delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519554" }, { "@id": "http://reg.genome.network/allele/PA2827560022", "coordinates": [ { "allele": "A", "end": 977, "referenceAllele": "C", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350672.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337601.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337601.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519555" }, { "@id": "http://reg.genome.network/allele/PA2827560310", "coordinates": [ { "allele": "A", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350673.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337602.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337602.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519556" }, { "@id": "http://reg.genome.network/allele/PA2827560598", "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350674.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337603.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337603.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519557" }, { "@id": "http://reg.genome.network/allele/PA2827560886", "coordinates": [ { "allele": "A", "end": 1395, "referenceAllele": "C", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350675.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337604.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337604.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519558" }, { "@id": "http://reg.genome.network/allele/PA2827561174", "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350676.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337605.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337605.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519559" }, { "@id": "http://reg.genome.network/allele/PA2827561462", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350677.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337606.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337606.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519560" }, { "@id": "http://reg.genome.network/allele/PA2827561750", "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350678.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337607.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337607.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519561" }, { "@id": "http://reg.genome.network/allele/PA2827562038", "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350679.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337608.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337608.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519562" }, { "@id": "http://reg.genome.network/allele/PA2827562326", "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "C", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350680.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337609.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337609.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519563" }, { "@id": "http://reg.genome.network/allele/PA2827562614", "coordinates": [ { "allele": "A", "end": 1724, "referenceAllele": "C", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350681.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337610.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337610.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519564" }, { "@id": "http://reg.genome.network/allele/PA2827562902", "coordinates": [ { "allele": "A", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350682.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337611.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337611.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519565" }, { "@id": "http://reg.genome.network/allele/PA2827563190", "coordinates": [ { "allele": "A", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350683.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337612.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337612.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519566" }, { "@id": "http://reg.genome.network/allele/PA2827563478", "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "C", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350684.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337613.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337613.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519567" }, { "@id": "http://reg.genome.network/allele/PA2827563766", "coordinates": [ { "allele": "A", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350685.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337614.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337614.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519568" }, { "@id": "http://reg.genome.network/allele/PA2827564054", "coordinates": [ { "allele": "A", "end": 1688, "referenceAllele": "C", "start": 1687 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350686.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337615.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337615.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519569" }, { "@id": "http://reg.genome.network/allele/PA2827564342", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "C", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350687.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337616.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337616.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519570" }, { "@id": "http://reg.genome.network/allele/PA2827564630", "coordinates": [ { "allele": "A", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350688.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337617.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337617.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519571" }, { "@id": "http://reg.genome.network/allele/PA2827564918", "coordinates": [ { "allele": "A", "end": 1457, "referenceAllele": "C", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350689.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337618.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337618.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519572" }, { "@id": "http://reg.genome.network/allele/PA2827565206", "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350690.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337619.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337619.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519573" }, { "@id": "http://reg.genome.network/allele/PA2827565494", "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350691.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337620.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337620.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519574" }, { "@id": "http://reg.genome.network/allele/PA2827565782", "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350692.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337621.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337621.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519575" }, { "@id": "http://reg.genome.network/allele/PA2827566070", "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "C", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350693.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337622.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337622.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519576" }, { "@id": "http://reg.genome.network/allele/PA2827566358", "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350694.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337623.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337623.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519577" }, { "@id": "http://reg.genome.network/allele/PA2827566646", "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "C", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350695.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337624.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337624.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519578" }, { "@id": "http://reg.genome.network/allele/PA2827566934", "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "C", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350696.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337625.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337625.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519579" }, { "@id": "http://reg.genome.network/allele/PA2827567222", "coordinates": [ { "allele": "A", "end": 1622, "referenceAllele": "C", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350697.1:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001337626.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001337626.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519580" }, { "@id": "http://reg.genome.network/allele/PA2829579365", "coordinates": [ { "allele": "A", "end": 1874, "referenceAllele": "C", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.4:c.780C>A" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Tyr260Ter", "hgvsWellDefined": "NP_004903.2:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525261" }, { "@id": "http://reg.genome.network/allele/PA2830425725", "coordinates": [ { "allele": "A", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.2:c.780C>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Tyr260Ter", "hgvsWellDefined": "NP_919436.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526936" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.4:c.780C>A" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Tyr260Ter", "hgvsWellDefined": "XP_005250723.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533474" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.4:c.780C>A" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Tyr260Ter", "hgvsWellDefined": "XP_006716225.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539113" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.3:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514953.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544249" }, { "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.3:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514956.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544250" }, { "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.3:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514957.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544251" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.3:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514960.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544252" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.3:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514961.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.780C>A" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Tyr260Ter", "hgvsWellDefined": "XP_011514962.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "A", "end": 1519, "referenceAllele": "C", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.66C>A" ], "proteinEffect": { "hgvs": "XP_016868247.1:p.Tyr22Ter", "hgvsWellDefined": "XP_016868247.1:p.Tyr22_Ser498delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "C", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_024302750.1:p.Tyr260Ter", "hgvsWellDefined": "XP_024302750.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580610" }, { "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "C", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446983.1:c.780C>A" ], "proteinEffect": { "hgvs": "XP_024302751.1:p.Tyr260Ter", "hgvsWellDefined": "XP_024302751.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "A", "end": 2081, "referenceAllele": "C", "start": 2080 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.-273C>A" ], "proteinEffect": { "hgvs": "XP_024302752.1:n.-273C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "@id": "http://reg.genome.network/allele/PA2830425725", "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "C", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.780C>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Tyr260Ter", "hgvsWellDefined": "NP_919436.1:p.Tyr260_Ser736delinsSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.780C>A" }, "RefSeq": { "hgvs": "NM_194454.3:c.780C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Tyr260Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Tyr260Ter" } } } } ], "type": "nucleotide" }