{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253592", "communityStandardTitle": [ "NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20767[alleleid]", "alleleId": 20767, "preferredName": "NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5728", "RCV": [ "RCV000006082", "RCV000239438" ], "variationId": 5728 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.91863765G>T?assembly=hg19", "id": "chr7:g.91863765G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92234451G>T?assembly=hg38", "id": "chr7:g.92234451G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267607204", "rs": 267607204 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-92234451-G-T?dataset=gnomad_r4", "id": "7-92234451-G-T", "variant": "7:92234451 G / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 92234451, "referenceAllele": "G", "start": 92234450 } ], "hgvs": [ "NC_000007.14:g.92234451G>T", "CM000669.2:g.92234451G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91863765, "referenceAllele": "G", "start": 91863764 } ], "hgvs": [ "NC_000007.13:g.91863765G>T", "CM000669.1:g.91863765G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91701701, "referenceAllele": "G", "start": 91701700 } ], "hgvs": [ "NC_000007.12:g.91701701G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 16650, "referenceAllele": "C", "start": 16649 } ], "hgvs": [ "NG_012964.1:g.16650C>A", "LRG_650:g.16650C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002634" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4148, "referenceAllele": "C", "start": 4147 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425073.2:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000404790.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000404790.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824766" }, { "coordinates": [ { "allele": "A", "end": 2156, "referenceAllele": "C", "start": 2155 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000410104.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000410104.2:p.Cys329_Ser483delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuArgMetMetPhePheArgProSerThrGlnThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824846" }, { "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "C", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000444960.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000388076.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000388076.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824957" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "C", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.2:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000404084.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000404084.2:p.Cys329_Ser526delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnLeuLeuMetLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824964" }, { "coordinates": [ { "allele": "A", "end": 1526, "referenceAllele": "C", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000405835.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000405835.2:p.Cys329_Ser582delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825048" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "C", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.7:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825091" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "hgvs": [ "ENST00000458493.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000396352.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000396352.2:p.Cys329_Phe896delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspGluLysIleLeuGluLysIlePheLysIleValAlaAsnAsnIleThrGluThrAsnPheGluPheLeuCysGlnLysLeuAsnLeuAlaAsnSerGluThrAspMetProThrLysSerThrValSerLeuSerGluArgAlaHisGlnAlaLeuValIleTrpLysThrGlnSerAsnLysLeuSerLeuThrAlaAlaAlaLeuArgAspGlnLeuIleArgAlaLeuThrMetIleGlyAlaTyrGluIleMetAspLysIleThrAlaLeuAsnLeuPheThrArgAlaIleLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825095" }, { "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "C", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.6:n.1433C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825265" }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "hgvs": [ "ENST00000650585.2:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000498010.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000498010.2:p.Cys329_His799delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826807" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000684808.1:c.*494C>A" ], "proteinEffect": { "hgvs": "ENSP00000508621.1:n.*494C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829744" }, { "coordinates": [ { "allele": "A", "end": 2171, "referenceAllele": "C", "start": 2170 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685285.1:n.2171C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829988" }, { "coordinates": [ { "allele": "A", "end": 1335, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1335, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685431.1:c.845+357C>A" ], "proteinEffect": { "hgvs": "ENSP00000509995.1:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830070" }, { "coordinates": [ { "allele": "A", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686043.1:c.*250C>A" ], "proteinEffect": { "hgvs": "ENSP00000510108.1:n.*250C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830373" }, { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "C", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686094.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000510015.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000510015.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" 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"http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686785.1:c.*178+952C>A" ], "proteinEffect": { "hgvs": "ENSP00000508596.1:n.*178+952C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830741" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "C", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687135.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000509617.1:p.Cys329Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS831492" }, { "coordinates": [ { "allele": "A", "end": 1539, "referenceAllele": "C", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688314.1:c.*250C>A" ], "proteinEffect": { "hgvs": "ENSP00000510229.1:n.*250C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831557" }, { "coordinates": [ { "allele": "A", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688404.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000509939.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000509939.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831610" }, { "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688665.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000509209.1:p.Cys329Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS831978" }, { "coordinates": [ { "allele": "A", "end": 2922, "referenceAllele": "C", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689411.1:n.2922C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832156" }, { "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689539.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000510360.1:p.Cys329Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS832228" }, { "coordinates": [ { "allele": "A", "end": 1382, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1382, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689556.1:c.845+357C>A" ], "proteinEffect": { "hgvs": "ENSP00000508543.1:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832238" }, { "coordinates": [ { "allele": "A", "end": 1526, "referenceAllele": "C", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689778.1:n.1526C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832359" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, 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"ENSP00000510733.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832745" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690720.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000509832.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000509832.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832846" }, { "coordinates": [ { "allele": "A", "end": 1307, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1307, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690751.1:c.*352+357C>A" ], "proteinEffect": { "hgvs": "ENSP00000509101.1:n.*352+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832859" }, { "coordinates": [ { "allele": "A", "end": 1945, "endIntronDirection": "+", "endIntronOffset": 952, "referenceAllele": "C", "start": 1945, "startIntronDirection": "+", "startIntronOffset": 951 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690904.1:n.1945+952C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832937" }, { "coordinates": [ { "allele": "A", "end": 1335, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1335, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690908.1:c.845+357C>A" ], "proteinEffect": { "hgvs": "ENSP00000510110.1:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832940" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "C", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691239.1:c.*161C>A" ], "proteinEffect": { "hgvs": "ENSP00000508475.1:n.*161C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833117" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "C", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691622.1:n.1692C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833300" }, { "coordinates": [ { "allele": "A", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691827.1:c.*797C>A" ], "proteinEffect": { "hgvs": "ENSP00000508551.1:n.*797C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833399" }, { "coordinates": [ { "allele": "A", "end": 1747, "referenceAllele": "C", "start": 1746 } ], "hgvs": [ "ENST00000691972.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000510591.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000510591.1:p.Cys329_His799delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833472" }, { "coordinates": [ { "allele": "A", "end": 2130, "referenceAllele": "C", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692000.1:n.2130C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833487" }, { "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692157.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000509514.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000509514.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833571" }, { "coordinates": [ { "allele": "A", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692205.1:n.1364C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833598" }, { "coordinates": [ { "allele": "A", "end": 1505, "referenceAllele": "C", "start": 1504 } ], "hgvs": [ "ENST00000692281.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000510568.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000510568.1:p.Cys329_Lys1120delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLysSerProProTyrIlePheSerProIleProPheLeuGlyHisAlaIleAlaPheGlyLysSerProIleGluPheLeuGluAsnAlaTyrGluLysTyrGlyProValPheSerPheThrMetValGlyLysThrPheThrTyrLeuLeuGlySerAspAlaAlaAlaLeuLeuPheAsnSerLysAsnGluAspLeuAsnAlaGluAspValTyrSerArgLeuThrThrProValPheGlyLysGlyValAlaTyrAspValProAsnProValPheLeuGluGlnLysLysMetLeuLysSerGlyLeuAsnIleAlaHisPheLysGlnHisValSerIleIleGluLysGluThrLysGluTyrPheGluSerTrpGlyGluSerGlyGluLysAsnValPheGluAlaLeuSerGluLeuIleIleLeuThrAlaSerHisCysLeuHisGlyLysGluIleArgSerGlnLeuAsnGluLysValAlaGlnLeuTyrAlaAspLeuAspGlyGlyPheSerHisAlaAlaTrpLeuLeuProGlyTrpLeuProLeuProSerPheArgArgArgAspArgAlaHisArgGluIleLysAspIlePheTyrLysAlaIleGlnLysArgArgGlnSerGlnGluLysIleAspAspIleLeuGlnThrLeuLeuAspAlaThrTyrLysAspGlyArgProLeuThrAspAspGluValAlaGlyMetLeuIleGlyLeuLeuLeuAlaGlyGlnHisThrSerSerThrThrSerAlaTrpMetGlyPhePheLeuAlaArgAspLysThrLeuGlnLysLysCysTyrLeuGluGlnLysThrValCysGlyGluAsnLeuProProLeuThrTyrAspGlnLeuLysAspLeuAsnLeuLeuAspArgCysIleLysGluThrLeuArgLeuArgProProIleMetIleMetMetArgMetAlaArgThrProGlnThrValAlaGlyTyrThrIleProProGlyHisGlnValCysValSerProThrValAsnGlnArgLeuLysAspSerTrpValGluArgLeuAspPheAsnProAspArgTyrLeuGlnAspAsnProAlaSerGlyGluLysPheAlaTyrValProPheGlyAlaGlyArgHisArgCysIleGlyGluAsnPheAlaTyrValGlnIleLysThrIleTrpSerThrMetLeuArgLeuTyrGluPheAspLeuIleAspGlyTyrPheProThrValAsnTyrThrThrMetIleHisThrProGluAsnProValIleArgTyrLysArgArgSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833638" }, { "coordinates": [ { "allele": "A", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692361.1:n.1364C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833682" }, { "coordinates": [ { "allele": "A", "end": 3468, "referenceAllele": "C", "start": 3467 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692428.1:n.3468C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833716" }, { "coordinates": [ { "allele": "A", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692690.1:c.*494C>A" ], "proteinEffect": { "hgvs": "ENSP00000509642.1:n.*494C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833834" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "C", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692807.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000508564.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000508564.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833900" }, { "coordinates": [ { "allele": "A", "end": 3243, "referenceAllele": "C", "start": 3242 } ], "hgvs": [ "ENST00000693096.1:n.3243C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834060" }, { "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000693563.1:c.*250C>A" ], "proteinEffect": { "hgvs": "ENSP00000510120.1:n.*250C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834312" }, { "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.7:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.987C>A" }, "RefSeq": { "hgvs": "NM_194454.3:c.987C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Cys329Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Cys329Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756625" }, { "coordinates": [ { "allele": "A", "end": 1505, "referenceAllele": "C", "start": 1504 } ], "hgvs": [ "ENST00000650585.1:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000498010.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000498010.1:p.Cys329_Lys708del" }, "referenceSequence": "http://reg.genome.network/refseq/RS771194" }, { "coordinates": [ { "allele": "A", "end": 2006, "referenceAllele": "C", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000340022.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000344668.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000344668.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261003" }, { "coordinates": [ { "allele": "A", "end": 1242, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1242, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394503.6:c.845+357C>A" ], "proteinEffect": { "hgvs": "ENSP00000378011.2:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS276194" }, { "coordinates": [ { "allele": "A", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276195" }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394507.5:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000378015.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000378015.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276196" }, { "coordinates": [ { "allele": "A", "end": 1776, "referenceAllele": "C", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000412043.6:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000410909.2:p.Cys329Ter", "hgvsWellDefined": "ENSP00000410909.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282437" }, { "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "C", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.1:c.273C>A" ], "proteinEffect": { "hgvs": "ENSP00000404084.1:p.Cys91Ter", "hgvsWellDefined": "ENSP00000404084.1:p.Cys91Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS298317" }, { "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.5:n.629C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316976" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "C", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000486261.5:n.1618C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325108" }, { "coordinates": [ { "allele": "A", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000611677.4:c.987C>A" ], "proteinEffect": { "hgvs": "ENSP00000478777.1:p.Cys329Ter", "hgvsWellDefined": "ENSP00000478777.1:p.Cys329_Leu565delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnSerLeuTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400961" }, { "coordinates": [ { "allele": "A", "end": 1242, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1242, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.1:c.845+357C>A" ], "proteinEffect": { "hgvs": "NP_001013424.1:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008403" }, { "@id": "http://reg.genome.network/allele/PA2829579397", "coordinates": [ { "allele": "A", "end": 1879, "referenceAllele": "C", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.3:c.987C>A" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Cys329Ter", "hgvsWellDefined": "NP_004903.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030049" }, { "@id": "http://reg.genome.network/allele/PA2830425575", "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Cys329Ter", "hgvsWellDefined": "NP_919436.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044364" }, { "@id": "http://reg.genome.network/allele/PA2830425877", "coordinates": [ { "allele": "A", "end": 2006, "referenceAllele": "C", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194455.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_919437.1:p.Cys329Ter", "hgvsWellDefined": "NP_919437.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044365" }, { "@id": "http://reg.genome.network/allele/PA253594", "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194456.1:c.987C>A", "LRG_650t1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_919438.1:p.Cys329Ter", "hgvsWellDefined": "NP_919438.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044366" }, { "coordinates": [ { "allele": "A", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250660.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250717.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250717.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059246" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250662.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250719.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250719.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059247" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250664.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250721.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250721.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059248" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250665.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250722.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250722.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059249" }, { "coordinates": [ { "allele": "A", "end": 1582, "referenceAllele": "C", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250723.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059250" }, { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250667.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250724.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250724.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059251" }, { "coordinates": [ { "allele": "A", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250668.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250725.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250725.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059252" }, { "coordinates": [ { "allele": "A", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250669.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250726.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250726.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059253" }, { "coordinates": [ { "allele": "A", "end": 1857, "referenceAllele": "C", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716160.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_006716223.1:p.Cys329Ter", "hgvsWellDefined": "XP_006716223.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071530" }, { "coordinates": [ { "allele": "A", "end": 1630, "referenceAllele": "C", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716161.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_006716224.1:p.Cys329Ter", "hgvsWellDefined": "XP_006716224.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071531" }, { "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Cys329Ter", "hgvsWellDefined": "XP_006716225.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071532" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716163.2:c.987C>A" ], "proteinEffect": { "hgvs": "XP_006716226.1:p.Cys329Ter", "hgvsWellDefined": "XP_006716226.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071533" }, { "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "C", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514953.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083851" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516652.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514954.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514954.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083852" }, { "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "C", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516653.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514955.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514955.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083853" }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514956.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083854" }, { "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514957.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083855" }, { "coordinates": [ { "allele": "A", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516656.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514958.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514958.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083856" }, { "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516657.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514959.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514959.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083857" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514960.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083858" }, { "coordinates": [ { "allele": "A", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514961.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083859" }, { "coordinates": [ { "allele": "A", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514962.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083860" }, { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516661.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514963.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514963.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083861" }, { "coordinates": [ { "allele": "A", "end": 1428, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1428, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.2:c.845+357C>A" ], "proteinEffect": { "hgvs": "NP_001013424.1:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS511027" }, { "coordinates": [ { "allele": "A", "end": 1396, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1396, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350669.1:c.845+357C>A" ], "proteinEffect": { "hgvs": "NP_001337598.1:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519552" }, { "coordinates": [ { "allele": "A", "end": 1576, "endIntronDirection": "+", "endIntronOffset": 357, "referenceAllele": "C", "start": 1576, "startIntronDirection": "+", "startIntronOffset": 356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350670.1:c.845+357C>A" ], "proteinEffect": { "hgvs": "NP_001337599.1:n.845+357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519553" }, { "@id": "http://reg.genome.network/allele/PA916030615", "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350671.1:c.273C>A" ], "proteinEffect": { "hgvs": "NP_001337600.1:p.Cys91Ter", "hgvsWellDefined": "NP_001337600.1:p.Cys91_Ser498delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519554" }, { "@id": "http://reg.genome.network/allele/PA2827560047", "coordinates": [ { "allele": "A", "end": 1184, "referenceAllele": "C", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350672.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337601.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337601.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519555" }, { "@id": "http://reg.genome.network/allele/PA2827560335", "coordinates": [ { "allele": "A", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350673.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337602.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337602.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519556" }, { "@id": "http://reg.genome.network/allele/PA2827560623", "coordinates": [ { "allele": "A", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350674.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337603.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337603.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519557" }, { "@id": "http://reg.genome.network/allele/PA2827560911", "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "C", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350675.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337604.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337604.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519558" }, { "@id": "http://reg.genome.network/allele/PA2827561199", "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350676.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337605.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337605.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519559" }, { "@id": "http://reg.genome.network/allele/PA2827561487", "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350677.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337606.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337606.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519560" }, { "@id": "http://reg.genome.network/allele/PA2827561775", "coordinates": [ { "allele": "A", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350678.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337607.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337607.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519561" }, { "@id": "http://reg.genome.network/allele/PA2827562063", "coordinates": [ { "allele": "A", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350679.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337608.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337608.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519562" }, { "@id": "http://reg.genome.network/allele/PA2827562351", "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350680.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337609.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337609.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519563" }, { "@id": "http://reg.genome.network/allele/PA2827562639", "coordinates": [ { "allele": "A", "end": 1931, "referenceAllele": "C", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350681.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337610.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337610.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519564" }, { "@id": "http://reg.genome.network/allele/PA2827562927", "coordinates": [ { "allele": "A", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350682.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337611.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337611.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519565" }, { "@id": "http://reg.genome.network/allele/PA2827563215", "coordinates": [ { "allele": "A", "end": 1550, "referenceAllele": "C", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350683.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337612.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337612.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519566" }, { "@id": "http://reg.genome.network/allele/PA2827563503", "coordinates": [ { "allele": "A", "end": 1681, "referenceAllele": "C", "start": 1680 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350684.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337613.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337613.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519567" }, { "@id": "http://reg.genome.network/allele/PA2827563791", "coordinates": [ { "allele": "A", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350685.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337614.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337614.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519568" }, { "@id": "http://reg.genome.network/allele/PA2827564079", "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350686.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337615.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337615.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519569" }, { "@id": "http://reg.genome.network/allele/PA2827564367", "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350687.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337616.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337616.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519570" }, { "@id": "http://reg.genome.network/allele/PA2827564655", "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350688.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337617.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337617.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519571" }, { "@id": "http://reg.genome.network/allele/PA2827564943", "coordinates": [ { "allele": "A", "end": 1664, "referenceAllele": "C", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350689.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337618.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337618.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519572" }, { "@id": "http://reg.genome.network/allele/PA2827565231", "coordinates": [ { "allele": "A", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350690.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337619.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337619.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519573" }, { "@id": "http://reg.genome.network/allele/PA2827565519", "coordinates": [ { "allele": "A", "end": 1625, "referenceAllele": "C", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350691.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337620.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337620.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519574" }, { "@id": "http://reg.genome.network/allele/PA2827565807", "coordinates": [ { "allele": "A", "end": 1811, "referenceAllele": "C", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350692.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337621.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337621.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519575" }, { "@id": "http://reg.genome.network/allele/PA2827566095", "coordinates": [ { "allele": "A", "end": 1698, "referenceAllele": "C", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350693.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337622.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337622.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519576" }, { "@id": "http://reg.genome.network/allele/PA2827566383", "coordinates": [ { "allele": "A", "end": 1512, "referenceAllele": "C", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350694.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337623.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337623.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519577" }, { "@id": "http://reg.genome.network/allele/PA2827566671", "coordinates": [ { "allele": "A", "end": 1663, "referenceAllele": "C", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350695.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337624.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337624.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519578" }, { "@id": "http://reg.genome.network/allele/PA2827566959", "coordinates": [ { "allele": "A", "end": 1448, "referenceAllele": "C", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350696.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337625.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337625.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519579" }, { "@id": "http://reg.genome.network/allele/PA2827567247", "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "C", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350697.1:c.987C>A" ], "proteinEffect": { "hgvs": "NP_001337626.1:p.Cys329Ter", "hgvsWellDefined": "NP_001337626.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519580" }, { "@id": "http://reg.genome.network/allele/PA2829579397", "coordinates": [ { "allele": "A", "end": 2081, "referenceAllele": "C", "start": 2080 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.4:c.987C>A" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Cys329Ter", "hgvsWellDefined": "NP_004903.2:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525261" }, { "@id": "http://reg.genome.network/allele/PA2830425575", "coordinates": [ { "allele": "A", "end": 1718, "referenceAllele": "C", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.2:c.987C>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Cys329Ter", "hgvsWellDefined": "NP_919436.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526936" }, { "coordinates": [ { "allele": "A", "end": 1582, "referenceAllele": "C", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.4:c.987C>A" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Cys329Ter", "hgvsWellDefined": "XP_005250723.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533474" }, { "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.4:c.987C>A" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Cys329Ter", "hgvsWellDefined": "XP_006716225.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539113" }, { "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "C", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.3:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514953.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544249" }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.3:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514956.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544250" }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.3:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514957.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544251" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.3:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514960.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544252" }, { "coordinates": [ { "allele": "A", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.3:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514961.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "A", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.987C>A" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Cys329Ter", "hgvsWellDefined": "XP_011514962.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "A", "end": 1726, "referenceAllele": "C", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.273C>A" ], "proteinEffect": { "hgvs": "XP_016868247.1:p.Cys91Ter", "hgvsWellDefined": "XP_016868247.1:p.Cys91_Ser498delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "C", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_024302750.1:p.Cys329Ter", "hgvsWellDefined": "XP_024302750.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580610" }, { "coordinates": [ { "allele": "A", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446983.1:c.987C>A" ], "proteinEffect": { "hgvs": "XP_024302751.1:p.Cys329Ter", "hgvsWellDefined": "XP_024302751.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "C", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.150C>A" ], "proteinEffect": { "hgvs": "XP_024302752.1:p.Cys50Ter", "hgvsWellDefined": "XP_024302752.1:p.Cys50_Ser457delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "@id": "http://reg.genome.network/allele/PA2830425575", "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.987C>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Cys329Ter", "hgvsWellDefined": "NP_919436.1:p.Cys329_Ser736delinsTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.987C>A" }, "RefSeq": { "hgvs": "NM_194454.3:c.987C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Cys329Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Cys329Ter" } } } } ], "type": "nucleotide" }