{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2831039208", "communityStandardTitle": [ "NM_194454.3(KRIT1):c.879_880delinsTT (p.His294Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3396503[alleleid]", "alleleId": 3396503, "preferredName": "NM_194454.3(KRIT1):c.879_880delinsTT (p.Arg294Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3237382", "RCV": [ "RCV004560374" ], "variationId": 3237382 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2536005162", "rs": 2536005162 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "AA", "end": 92234559, "referenceAllele": "GG", "start": 92234557 } ], "hgvs": [ "NC_000007.14:g.92234558_92234559delinsAA", "CM000669.2:g.92234558_92234559delinsAA" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "AA", "end": 91863873, "referenceAllele": "GG", "start": 91863871 } ], "hgvs": [ "NC_000007.13:g.91863872_91863873delinsAA", "CM000669.1:g.91863872_91863873delinsAA" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "AA", "end": 91701809, "referenceAllele": "GG", "start": 91701807 } ], "hgvs": [ "NC_000007.12:g.91701808_91701809delinsAA" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "TT", "end": 16543, "referenceAllele": "CC", "start": 16541 } ], "hgvs": [ "NG_012964.1:g.16542_16543delinsTT", "LRG_650:g.16542_16543delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS002634" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "TT", "end": 4041, "referenceAllele": "CC", "start": 4039 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425073.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000404790.2:p.His294Ter", "hgvsWellDefined": "ENSP00000404790.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824766" }, { "coordinates": [ { "allele": "TT", "end": 2049, "referenceAllele": "CC", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000410104.2:p.His294Ter", "hgvsWellDefined": "ENSP00000410104.2:p.Arg294_Ser483delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuArgMetMetPhePheArgProSerThrGlnThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824846" }, { "coordinates": [ { "allele": "TT", "end": 1381, "referenceAllele": "CC", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000444960.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000388076.2:p.His294Ter", "hgvsWellDefined": "ENSP00000388076.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824957" }, { "coordinates": [ { "allele": "TT", "end": 1173, "referenceAllele": "CC", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000404084.2:p.His294Ter", "hgvsWellDefined": "ENSP00000404084.2:p.Arg294_Ser526delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnLeuLeuMetLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824964" }, { "coordinates": [ { "allele": "TT", "end": 1419, "referenceAllele": "CC", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000405835.2:p.His294Ter", "hgvsWellDefined": "ENSP00000405835.2:p.Arg294_Ser582delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825048" }, { "coordinates": [ { "allele": "TT", "end": 1561, "referenceAllele": "CC", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.7:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.His294Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825091" }, { "coordinates": [ { "allele": "TT", "end": 1190, "referenceAllele": "CC", "start": 1188 } ], "hgvs": [ "ENST00000458493.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000396352.2:p.His294Ter", "hgvsWellDefined": "ENSP00000396352.2:p.Arg294_Phe896delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspGluLysIleLeuGluLysIlePheLysIleValAlaAsnAsnIleThrGluThrAsnPheGluPheLeuCysGlnLysLeuAsnLeuAlaAsnSerGluThrAspMetProThrLysSerThrValSerLeuSerGluArgAlaHisGlnAlaLeuValIleTrpLysThrGlnSerAsnLysLeuSerLeuThrAlaAlaAlaLeuArgAspGlnLeuIleArgAlaLeuThrMetIleGlyAlaTyrGluIleMetAspLysIleThrAlaLeuAsnLeuPheThrArgAlaIleLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825095" }, { "coordinates": [ { "allele": "TT", "end": 1326, "referenceAllele": "CC", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.6:n.1325_1326delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS825265" }, { "coordinates": [ { "allele": "TT", "end": 1382, "referenceAllele": "CC", "start": 1380 } ], "hgvs": [ "ENST00000650585.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000498010.2:p.His294Ter", "hgvsWellDefined": "ENSP00000498010.2:p.Arg294_His799delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS832846" }, { "coordinates": [ { "allele": "TT", "end": 1307, "endIntronDirection": "+", "endIntronOffset": 250, "referenceAllele": "CC", "start": 1307, "startIntronDirection": "+", "startIntronOffset": 248 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690751.1:c.*352+249_*352+250delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000509101.1:n.*352+249_*352+250delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS832859" }, { "coordinates": [ { "allele": "TT", "end": 1945, "endIntronDirection": "+", "endIntronOffset": 845, "referenceAllele": "CC", "start": 1945, "startIntronDirection": "+", "startIntronOffset": 843 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690904.1:n.1945+844_1945+845delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS832937" }, { 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"http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691622.1:n.1584_1585delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS833300" }, { "coordinates": [ { "allele": "TT", "end": 1313, "referenceAllele": "CC", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691827.1:c.*689_*690delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000508551.1:n.*689_*690delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS833399" }, { "coordinates": [ { "allele": "TT", "end": 1640, "referenceAllele": "CC", "start": 1638 } ], "hgvs": [ "ENST00000691972.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000510591.1:p.His294Ter", "hgvsWellDefined": "ENSP00000510591.1:p.Arg294_His799delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS833571" }, { "coordinates": [ { "allele": "TT", "end": 1257, "referenceAllele": "CC", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692205.1:n.1256_1257delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS833598" }, { "coordinates": [ { "allele": "TT", "end": 1398, "referenceAllele": "CC", "start": 1396 } ], "hgvs": [ "ENST00000692281.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000510568.1:p.His294Ter", "hgvsWellDefined": 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"ENSP00000508564.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833900" }, { "coordinates": [ { "allele": "TT", "end": 3136, "referenceAllele": "CC", "start": 3134 } ], "hgvs": [ "ENST00000693096.1:n.3135_3136delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS834060" }, { "coordinates": [ { "allele": "TT", "end": 778, "referenceAllele": "CC", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000693563.1:c.*142_*143delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000510120.1:n.*142_*143delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS834312" }, { "coordinates": [ { "allele": "TT", "end": 1425, "referenceAllele": "CC", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.7:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.His294Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.879_880delinsTT" }, "RefSeq": { "hgvs": "NM_194454.3:c.879_880delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.His294Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.His294Ter" } } } }, { "coordinates": [ { "allele": "TT", "end": 1664, "referenceAllele": "CC", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.His294Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756625" }, { "coordinates": [ { "allele": "TT", "end": 1398, "referenceAllele": "CC", "start": 1396 } ], "hgvs": [ "ENST00000650585.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000498010.1:p.His294Ter", "hgvsWellDefined": "ENSP00000498010.1:p.Arg294_Lys708del" }, "referenceSequence": "http://reg.genome.network/refseq/RS771194" }, { "coordinates": [ { "allele": "TT", "end": 1899, "referenceAllele": "CC", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000340022.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000344668.2:p.His294Ter", "hgvsWellDefined": "ENSP00000344668.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261003" }, { "coordinates": [ { "allele": "TT", "end": 1242, "endIntronDirection": "+", "endIntronOffset": 250, "referenceAllele": "CC", "start": 1242, "startIntronDirection": "+", "startIntronOffset": 248 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394503.6:c.845+249_845+250delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000378011.2:n.845+249_845+250delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS276194" }, { "coordinates": [ { "allele": "TT", "end": 1434, "referenceAllele": "CC", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.His294Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276195" }, { "coordinates": [ { "allele": "TT", "end": 1664, "referenceAllele": "CC", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394507.5:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000378015.1:p.His294Ter", "hgvsWellDefined": "ENSP00000378015.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276196" }, { "coordinates": [ { "allele": "TT", "end": 1669, "referenceAllele": "CC", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000412043.6:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000410909.2:p.His294Ter", "hgvsWellDefined": "ENSP00000410909.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282437" }, { "coordinates": [ { "allele": "TT", "end": 233, "referenceAllele": "CC", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.1:c.165_166delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000404084.1:p.His56Ter", "hgvsWellDefined": "ENSP00000404084.1:p.Arg56Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS298317" }, { "coordinates": [ { "allele": "TT", "end": 522, "referenceAllele": "CC", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.5:n.521_522delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS316976" }, { "coordinates": [ { "allele": "TT", "end": 1511, "referenceAllele": "CC", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000486261.5:n.1510_1511delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS325108" }, { "coordinates": [ { "allele": "TT", "end": 1364, "referenceAllele": "CC", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000611677.4:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000478777.1:p.His294Ter", "hgvsWellDefined": "ENSP00000478777.1:p.Arg294_Leu565delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnSerLeuTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400961" }, { "coordinates": [ { "allele": "TT", "end": 1242, "endIntronDirection": "+", "endIntronOffset": 250, "referenceAllele": "CC", "start": 1242, "startIntronDirection": "+", "startIntronOffset": 248 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.1:c.845+249_845+250delinsTT" ], "proteinEffect": { "hgvs": "NP_001013424.1:n.845+249_845+250delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS008403" }, { "coordinates": [ { "allele": "TT", "end": 1772, "referenceAllele": "CC", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_004903.2:p.His294Ter", "hgvsWellDefined": "NP_004903.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030049" }, { "coordinates": [ { "allele": "TT", "end": 1425, "referenceAllele": "CC", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_919436.1:p.His294Ter", "hgvsWellDefined": "NP_919436.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044364" }, { "coordinates": [ { "allele": "TT", "end": 1899, "referenceAllele": "CC", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194455.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_919437.1:p.His294Ter", "hgvsWellDefined": "NP_919437.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044365" }, { "coordinates": [ { "allele": "TT", "end": 1664, "referenceAllele": "CC", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194456.1:c.879_880delinsTT", "LRG_650t1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_919438.1:p.His294Ter", "hgvsWellDefined": "NP_919438.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044366" }, { "coordinates": [ { "allele": "TT", "end": 1392, "referenceAllele": "CC", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250660.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250717.1:p.His294Ter", "hgvsWellDefined": "XP_005250717.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059246" }, { "coordinates": [ { "allele": "TT", "end": 1371, "referenceAllele": "CC", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250662.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250719.1:p.His294Ter", "hgvsWellDefined": "XP_005250719.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059247" }, { "coordinates": [ { "allele": "TT", "end": 1277, "referenceAllele": "CC", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250664.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250721.1:p.His294Ter", "hgvsWellDefined": "XP_005250721.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059248" }, { "coordinates": [ { "allele": "TT", "end": 1299, "referenceAllele": "CC", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250665.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250722.1:p.His294Ter", "hgvsWellDefined": "XP_005250722.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059249" }, { "coordinates": [ { "allele": "TT", "end": 1475, "referenceAllele": "CC", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.His294Ter", "hgvsWellDefined": "XP_005250723.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059250" }, { "coordinates": [ { "allele": "TT", "end": 1183, "referenceAllele": "CC", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250667.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250724.1:p.His294Ter", "hgvsWellDefined": "XP_005250724.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059251" }, { "coordinates": [ { "allele": "TT", "end": 1245, "referenceAllele": "CC", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250668.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250725.1:p.His294Ter", "hgvsWellDefined": "XP_005250725.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059252" }, { "coordinates": [ { "allele": "TT", "end": 1223, "referenceAllele": "CC", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250669.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250726.1:p.His294Ter", "hgvsWellDefined": "XP_005250726.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059253" }, { "coordinates": [ { "allele": "TT", "end": 1750, "referenceAllele": "CC", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716160.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_006716223.1:p.His294Ter", "hgvsWellDefined": "XP_006716223.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071530" }, { "coordinates": [ { "allele": "TT", "end": 1523, "referenceAllele": "CC", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716161.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_006716224.1:p.His294Ter", "hgvsWellDefined": "XP_006716224.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071531" }, { "coordinates": [ { "allele": "TT", "end": 1340, "referenceAllele": "CC", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.His294Ter", "hgvsWellDefined": "XP_006716225.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071532" }, { "coordinates": [ { "allele": "TT", "end": 1190, "referenceAllele": "CC", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716163.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_006716226.1:p.His294Ter", "hgvsWellDefined": "XP_006716226.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071533" }, { "coordinates": [ { "allele": "TT", "end": 1506, "referenceAllele": "CC", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.His294Ter", "hgvsWellDefined": "XP_011514953.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083851" }, { "coordinates": [ { "allele": "TT", "end": 1371, "referenceAllele": "CC", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516652.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514954.1:p.His294Ter", "hgvsWellDefined": "XP_011514954.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083852" }, { "coordinates": [ { "allele": "TT", "end": 1259, "referenceAllele": "CC", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516653.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514955.1:p.His294Ter", "hgvsWellDefined": "XP_011514955.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083853" }, { "coordinates": [ { "allele": "TT", "end": 1524, "referenceAllele": "CC", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.His294Ter", "hgvsWellDefined": "XP_011514956.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083854" }, { "coordinates": [ { "allele": "TT", "end": 1182, "referenceAllele": "CC", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.His294Ter", "hgvsWellDefined": "XP_011514957.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083855" }, { "coordinates": [ { "allele": "TT", "end": 1140, "referenceAllele": "CC", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516656.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514958.1:p.His294Ter", "hgvsWellDefined": "XP_011514958.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083856" }, { "coordinates": [ { "allele": "TT", "end": 1067, "referenceAllele": "CC", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516657.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514959.1:p.His294Ter", "hgvsWellDefined": "XP_011514959.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083857" }, { "coordinates": [ { "allele": "TT", "end": 1103, "referenceAllele": "CC", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.His294Ter", "hgvsWellDefined": "XP_011514960.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083858" }, { "coordinates": [ { "allele": "TT", "end": 1101, "referenceAllele": "CC", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.His294Ter", "hgvsWellDefined": "XP_011514961.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083859" }, { "coordinates": [ { "allele": "TT", "end": 983, "referenceAllele": "CC", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.His294Ter", "hgvsWellDefined": "XP_011514962.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083860" }, { "coordinates": [ { "allele": "TT", "end": 905, "referenceAllele": "CC", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516661.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514963.1:p.His294Ter", "hgvsWellDefined": "XP_011514963.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083861" }, { "coordinates": [ { "allele": "TT", "end": 1428, "endIntronDirection": "+", "endIntronOffset": 250, "referenceAllele": "CC", "start": 1428, "startIntronDirection": "+", "startIntronOffset": 248 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.2:c.845+249_845+250delinsTT" ], "proteinEffect": { "hgvs": "NP_001013424.1:n.845+249_845+250delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS511027" }, { "coordinates": [ { "allele": "TT", "end": 1396, "endIntronDirection": "+", "endIntronOffset": 250, "referenceAllele": "CC", "start": 1396, "startIntronDirection": "+", "startIntronOffset": 248 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350669.1:c.845+249_845+250delinsTT" ], "proteinEffect": { "hgvs": "NP_001337598.1:n.845+249_845+250delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS519552" }, { "coordinates": [ { "allele": "TT", "end": 1576, "endIntronDirection": "+", "endIntronOffset": 250, "referenceAllele": "CC", "start": 1576, "startIntronDirection": "+", "startIntronOffset": 248 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350670.1:c.845+249_845+250delinsTT" ], "proteinEffect": { "hgvs": "NP_001337599.1:n.845+249_845+250delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS519553" }, { "coordinates": [ { "allele": "TT", "end": 1657, "referenceAllele": "CC", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350671.1:c.165_166delinsTT" ], "proteinEffect": { "hgvs": "NP_001337600.1:p.His56Ter", "hgvsWellDefined": "NP_001337600.1:p.Arg56_Ser498delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519554" }, { "coordinates": [ { "allele": "TT", "end": 1077, "referenceAllele": "CC", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350672.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337601.1:p.His294Ter", "hgvsWellDefined": "NP_001337601.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519555" }, { "coordinates": [ { "allele": "TT", "end": 1347, "referenceAllele": "CC", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350673.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337602.1:p.His294Ter", "hgvsWellDefined": "NP_001337602.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519556" }, { "coordinates": [ { "allele": "TT", "end": 1576, "referenceAllele": "CC", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350674.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337603.1:p.His294Ter", "hgvsWellDefined": "NP_001337603.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519557" }, { "coordinates": [ { "allele": "TT", "end": 1495, "referenceAllele": "CC", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350675.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337604.1:p.His294Ter", "hgvsWellDefined": "NP_001337604.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519558" }, { "coordinates": [ { "allele": "TT", "end": 1458, "referenceAllele": "CC", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350676.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337605.1:p.His294Ter", "hgvsWellDefined": "NP_001337605.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519559" }, { "coordinates": [ { "allele": "TT", "end": 1246, "referenceAllele": "CC", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350677.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337606.1:p.His294Ter", "hgvsWellDefined": "NP_001337606.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519560" }, { "coordinates": [ { "allele": "TT", "end": 1327, "referenceAllele": "CC", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350678.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337607.1:p.His294Ter", "hgvsWellDefined": "NP_001337607.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519561" }, { "coordinates": [ { "allele": "TT", "end": 1409, "referenceAllele": "CC", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350679.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337608.1:p.His294Ter", "hgvsWellDefined": "NP_001337608.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519562" }, { "coordinates": [ { "allele": "TT", "end": 1289, "referenceAllele": "CC", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350680.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337609.1:p.His294Ter", "hgvsWellDefined": "NP_001337609.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519563" }, { "coordinates": [ { "allele": "TT", "end": 1824, "referenceAllele": "CC", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350681.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337610.1:p.His294Ter", "hgvsWellDefined": "NP_001337610.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519564" }, { "coordinates": [ { "allele": "TT", "end": 1786, "referenceAllele": "CC", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350682.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337611.1:p.His294Ter", "hgvsWellDefined": "NP_001337611.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519565" }, { "coordinates": [ { "allele": "TT", "end": 1443, "referenceAllele": "CC", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350683.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337612.1:p.His294Ter", "hgvsWellDefined": "NP_001337612.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519566" }, { "coordinates": [ { "allele": "TT", "end": 1574, "referenceAllele": "CC", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350684.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337613.1:p.His294Ter", "hgvsWellDefined": "NP_001337613.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519567" }, { "coordinates": [ { "allele": "TT", "end": 1579, "referenceAllele": "CC", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350685.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337614.1:p.His294Ter", "hgvsWellDefined": "NP_001337614.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519568" }, { "coordinates": [ { "allele": "TT", "end": 1788, "referenceAllele": "CC", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350686.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337615.1:p.His294Ter", "hgvsWellDefined": "NP_001337615.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519569" }, { "coordinates": [ { "allele": "TT", "end": 1330, "referenceAllele": "CC", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350687.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337616.1:p.His294Ter", "hgvsWellDefined": "NP_001337616.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519570" }, { "coordinates": [ { "allele": "TT", "end": 1426, "referenceAllele": "CC", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350688.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337617.1:p.His294Ter", "hgvsWellDefined": "NP_001337617.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519571" }, { "coordinates": [ { "allele": "TT", "end": 1557, "referenceAllele": "CC", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350689.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337618.1:p.His294Ter", "hgvsWellDefined": "NP_001337618.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519572" }, { "coordinates": [ { "allele": "TT", "end": 1463, "referenceAllele": "CC", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350690.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337619.1:p.His294Ter", "hgvsWellDefined": "NP_001337619.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519573" }, { "coordinates": [ { "allele": "TT", "end": 1518, "referenceAllele": "CC", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350691.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337620.1:p.His294Ter", "hgvsWellDefined": "NP_001337620.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519574" }, { "coordinates": [ { "allele": "TT", "end": 1704, "referenceAllele": "CC", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350692.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337621.1:p.His294Ter", "hgvsWellDefined": "NP_001337621.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519575" }, { "coordinates": [ { "allele": "TT", "end": 1591, "referenceAllele": "CC", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350693.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337622.1:p.His294Ter", "hgvsWellDefined": "NP_001337622.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519576" }, { "coordinates": [ { "allele": "TT", "end": 1405, "referenceAllele": "CC", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350694.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337623.1:p.His294Ter", "hgvsWellDefined": "NP_001337623.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519577" }, { "coordinates": [ { "allele": "TT", "end": 1556, "referenceAllele": "CC", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350695.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337624.1:p.His294Ter", "hgvsWellDefined": "NP_001337624.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519578" }, { "coordinates": [ { "allele": "TT", "end": 1341, "referenceAllele": "CC", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350696.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337625.1:p.His294Ter", "hgvsWellDefined": "NP_001337625.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519579" }, { "coordinates": [ { "allele": "TT", "end": 1722, "referenceAllele": "CC", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350697.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_001337626.1:p.His294Ter", "hgvsWellDefined": "NP_001337626.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519580" }, { "coordinates": [ { "allele": "TT", "end": 1974, "referenceAllele": "CC", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.4:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_004903.2:p.His294Ter", "hgvsWellDefined": "NP_004903.2:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525261" }, { "coordinates": [ { "allele": "TT", "end": 1611, "referenceAllele": "CC", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.2:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_919436.1:p.His294Ter", "hgvsWellDefined": "NP_919436.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526936" }, { "coordinates": [ { "allele": "TT", "end": 1475, "referenceAllele": "CC", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.4:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.His294Ter", "hgvsWellDefined": "XP_005250723.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533474" }, { "coordinates": [ { "allele": "TT", "end": 1340, "referenceAllele": "CC", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.4:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.His294Ter", "hgvsWellDefined": "XP_006716225.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539113" }, { "coordinates": [ { "allele": "TT", "end": 1506, "referenceAllele": "CC", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.His294Ter", "hgvsWellDefined": "XP_011514953.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544249" }, { "coordinates": [ { "allele": "TT", "end": 1524, "referenceAllele": "CC", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.His294Ter", "hgvsWellDefined": "XP_011514956.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544250" }, { "coordinates": [ { "allele": "TT", "end": 1178, "referenceAllele": "CC", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.His294Ter", "hgvsWellDefined": "XP_011514957.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544251" }, { "coordinates": [ { "allele": "TT", "end": 1079, "referenceAllele": "CC", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.His294Ter", "hgvsWellDefined": "XP_011514960.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544252" }, { "coordinates": [ { "allele": "TT", "end": 1101, "referenceAllele": "CC", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.His294Ter", "hgvsWellDefined": "XP_011514961.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "TT", "end": 983, "referenceAllele": "CC", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.His294Ter", "hgvsWellDefined": "XP_011514962.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "TT", "end": 1619, "referenceAllele": "CC", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.165_166delinsTT" ], "proteinEffect": { "hgvs": "XP_016868247.1:p.His56Ter", "hgvsWellDefined": "XP_016868247.1:p.Arg56_Ser498delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "TT", "end": 1465, "referenceAllele": "CC", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_024302750.1:p.His294Ter", "hgvsWellDefined": "XP_024302750.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580610" }, { "coordinates": [ { "allele": "TT", "end": 1214, "referenceAllele": "CC", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446983.1:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "XP_024302751.1:p.His294Ter", "hgvsWellDefined": "XP_024302751.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "TT", "end": 2396, "referenceAllele": "CC", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.42_43delinsTT" ], "proteinEffect": { "hgvs": "XP_024302752.1:p.His15Ter", "hgvsWellDefined": "XP_024302752.1:p.Arg15_Ser457delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "coordinates": [ { "allele": "TT", "end": 1425, "referenceAllele": "CC", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.879_880delinsTT" ], "proteinEffect": { "hgvs": "NP_919436.1:p.His294Ter", "hgvsWellDefined": "NP_919436.1:p.Arg294_Ser736delinsSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.879_880delinsTT" }, "RefSeq": { "hgvs": "NM_194454.3:c.879_880delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.His294Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.His294Ter" } } } } ], "type": "nucleotide" }