{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4339444", "communityStandardTitle": [ "NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061143[alleleid]", "alleleId": 1061143, "preferredName": "NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074210", "RCV": [ "RCV001387434" ], "variationId": 1074210 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-91870319-G-A", "id": "7-91870319-G-A", "variant": "7:91870319 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.91870319G>A?assembly=hg19", "id": "chr7:g.91870319G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92241005G>A?assembly=hg38", "id": "chr7:g.92241005G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/751651833", "rs": 751651833 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-91870319-G-A?dataset=gnomad_r2_1", "id": "7-91870319-G-A", "variant": "7:91870319 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-92241005-G-A?dataset=gnomad_r4", "id": "7-92241005-G-A", "variant": "7:92241005 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 92241005, "referenceAllele": "G", "start": 92241004 } ], "hgvs": [ "NC_000007.14:g.92241005G>A", "CM000669.2:g.92241005G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 91870319, "referenceAllele": "G", "start": 91870318 } ], "hgvs": [ "NC_000007.13:g.91870319G>A", "CM000669.1:g.91870319G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 91708255, "referenceAllele": "G", "start": 91708254 } ], "hgvs": [ "NC_000007.12:g.91708255G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 10096, "referenceAllele": "C", "start": 10095 } ], "hgvs": [ "NG_012964.1:g.10096C>T", "LRG_650:g.10096C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002634" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000413688.6:n.647C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824636" }, { "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "C", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000422347.6:n.1556C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824714" }, { "coordinates": [ { "allele": "T", "end": 3411, "referenceAllele": "C", "start": 3410 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425073.2:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000404790.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000404790.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824766" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425919.6:n.1205C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824776" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000430102.6:n.888C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824814" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000410104.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000410104.2:p.Gln84_Ser483delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuArgMetMetPhePheArgProSerThrGlnThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824846" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000444960.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000388076.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000388076.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824957" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.2:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000404084.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000404084.2:p.Gln84_Ser526delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnLeuLeuMetLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824964" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000405835.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000405835.2:p.Gln84_Ser582delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825048" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.7:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825091" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "C", "start": 559 } ], "hgvs": [ "ENST00000458493.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000396352.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000396352.2:p.Gln84_Phe896delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspGluLysIleLeuGluLysIlePheLysIleValAlaAsnAsnIleThrGluThrAsnPheGluPheLeuCysGlnLysLeuAsnLeuAlaAsnSerGluThrAspMetProThrLysSerThrValSerLeuSerGluArgAlaHisGlnAlaLeuValIleTrpLysThrGlnSerAsnLysLeuSerLeuThrAlaAlaAlaLeuArgAspGlnLeuIleArgAlaLeuThrMetIleGlyAlaTyrGluIleMetAspLysIleThrAlaLeuAsnLeuPheThrArgAlaIleLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825095" }, { "coordinates": [ { "allele": "T", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000489087.2:n.4023C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825401" }, { "coordinates": [ { "allele": "T", "end": 752, "referenceAllele": "C", "start": 751 } ], "hgvs": [ "ENST00000650585.2:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000498010.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000498010.2:p.Gln84_His799delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826807" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000684808.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000508621.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000508621.1:p.Gln84_Gly120delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829744" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685285.1:n.740C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829988" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685431.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509995.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509995.1:p.Gln84_Phe629delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830070" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686043.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510108.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510108.1:p.Gln84_Arg201delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830373" }, { "coordinates": [ { "allele": "T", "end": 558, "referenceAllele": "C", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686094.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510015.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510015.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830397" }, { "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "C", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686233.1:n.645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830468" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686527.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509139.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509139.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830615" }, { "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686619.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509512.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509512.1:p.Gln84_Val424delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProLeuSerPheLeuValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830662" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686785.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000508596.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000508596.1:p.Gln84_Ser169delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspAsnPheIleProThrPheSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830741" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687135.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509617.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509617.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830925" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687517.1:n.627C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831125" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687627.1:n.740C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831182" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687876.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509086.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509086.1:p.Gln84_Gly120delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831306" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688196.1:n.610C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831492" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688314.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510229.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510229.1:p.Gln84_Arg201delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831557" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688404.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509939.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509939.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831610" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688665.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509209.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509209.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831752" }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688766.1:n.591C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831803" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688781.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510196.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510196.1:p.Gln84_Met99delinsGlyIleArgValPhePheLysValHisProSerProPheLysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831816" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689411.1:n.1419C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832156" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689539.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510360.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510360.1:p.Gln84_Phe677delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832228" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689556.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000508543.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000508543.1:p.Gln84_Ser688delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832238" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689778.1:n.789C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832359" }, { "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689789.1:n.971C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832367" }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690292.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510303.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510303.1:p.Gln84_Lys162delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832635" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690529.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510733.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510733.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832745" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690720.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509832.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509832.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832846" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690751.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509101.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509101.1:p.Gln84_Gly89delinsGlyIleArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832859" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690904.1:n.700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832937" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690908.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510110.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510110.1:p.Gln84_Ser688delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832940" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691222.1:n.2111C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833106" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691239.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000508475.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000508475.1:p.Gln84_Ala262delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgGluLeuGlnThrThrGlnLysSerLysTyrLeuAsnArgLysAsnGlyArgGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833117" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691622.1:n.740C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833300" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691827.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000508551.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000508551.1:p.Gln84_Met99delinsGlyIleArgValPhePheLysValHisProSerProPheLysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833399" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691890.1:n.510C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833432" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "hgvs": [ "ENST00000691972.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510591.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510591.1:p.Gln84_His799delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833472" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692000.1:n.627C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833487" }, { "coordinates": [ { "allele": "T", "end": 763, "referenceAllele": "C", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692157.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509514.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509514.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833571" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692205.1:n.627C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833598" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "hgvs": [ "ENST00000692281.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510568.1:p.Gln84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS833638" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692361.1:n.627C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833682" }, { "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692428.1:n.1271C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833716" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692690.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000509642.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000509642.1:p.Gln84_Gly89delinsGlyIleArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833834" }, { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692807.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000508564.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000508564.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833900" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000693563.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000510120.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000510120.1:p.Gln84_Arg201delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834312" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.7:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.250C>T" }, "RefSeq": { "hgvs": "NM_194454.3:c.250C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Gln84Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Gln84Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756625" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "hgvs": [ "ENST00000650585.1:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000498010.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000498010.1:p.Gln84_Lys708del" }, "referenceSequence": "http://reg.genome.network/refseq/RS771194" }, { "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000340022.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000344668.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000344668.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261003" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394503.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000378011.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000378011.2:p.Gln84_Ser688delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276194" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276195" }, { "coordinates": [ { "allele": "T", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394507.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000378015.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000378015.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276196" }, { "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000412043.6:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000410909.2:p.Gln84Ter", "hgvsWellDefined": "ENSP00000410909.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282437" }, { "coordinates": [ { "allele": "T", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000430102.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000391540.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000391540.1:p.Gln84_Pro98del" }, "referenceSequence": "http://reg.genome.network/refseq/RS290984" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000410104.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000410104.1:p.Gln84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS292344" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000440209.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000396042.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000396042.1:p.Gln84_Ile112del" }, "referenceSequence": "http://reg.genome.network/refseq/RS295777" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000405835.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000405835.1:p.Gln84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302379" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000391675.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000391675.1:p.Gln84_Arg243del" }, "referenceSequence": "http://reg.genome.network/refseq/RS304284" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000470309.5:n.424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312777" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000486261.5:n.115C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS325108" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000611677.4:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000478777.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000478777.1:p.Gln84_Leu565delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnSerLeuTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400961" }, { "@id": "http://reg.genome.network/allele/PA2825316827", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Gln84Ter", "hgvsWellDefined": "NP_001013424.1:p.Gln84_Ser688delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008403" }, { "@id": "http://reg.genome.network/allele/PA2829579281", "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.3:c.250C>T" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Gln84Ter", "hgvsWellDefined": "NP_004903.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030049" }, { "@id": "http://reg.genome.network/allele/PA2830425493", "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Gln84Ter", "hgvsWellDefined": "NP_919436.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044364" }, { "@id": "http://reg.genome.network/allele/PA2830425782", "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194455.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_919437.1:p.Gln84Ter", "hgvsWellDefined": "NP_919437.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044365" }, { "@id": "http://reg.genome.network/allele/PA2499303140", "coordinates": [ { "allele": "T", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194456.1:c.250C>T", "LRG_650t1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_919438.1:p.Gln84Ter", "hgvsWellDefined": "NP_919438.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044366" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250660.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250717.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250717.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059246" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250662.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250719.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250719.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059247" }, { "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250664.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250721.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250721.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059248" }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250665.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250722.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250722.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059249" }, { "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250723.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059250" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250667.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250724.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250724.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059251" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250668.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250725.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250725.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059252" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250669.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250726.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250726.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059253" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716160.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_006716223.1:p.Gln84Ter", "hgvsWellDefined": "XP_006716223.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071530" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716161.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_006716224.1:p.Gln84Ter", "hgvsWellDefined": "XP_006716224.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071531" }, { "coordinates": [ { "allele": "T", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Gln84Ter", "hgvsWellDefined": "XP_006716225.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071532" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716163.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_006716226.1:p.Gln84Ter", "hgvsWellDefined": "XP_006716226.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071533" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514953.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083851" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516652.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514954.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514954.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083852" }, { "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516653.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514955.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514955.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083853" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514956.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083854" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514957.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083855" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516656.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514958.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514958.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083856" }, { "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516657.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514959.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514959.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083857" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514960.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083858" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514961.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083859" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514962.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083860" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516661.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514963.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514963.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083861" }, { "@id": "http://reg.genome.network/allele/PA2825316827", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.2:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Gln84Ter", "hgvsWellDefined": "NP_001013424.1:p.Gln84_Ser688delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511027" }, { "@id": "http://reg.genome.network/allele/PA2827559241", "coordinates": [ { "allele": "T", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350669.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337598.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337598.1:p.Gln84_Ser688delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519552" }, { "@id": "http://reg.genome.network/allele/PA2827559509", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350670.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337599.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337599.1:p.Gln84_Ser688delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519553" }, { "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350671.1:c.-334C>T" ], "proteinEffect": { "hgvs": "NP_001337600.1:n.-334C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS519554" }, { "@id": "http://reg.genome.network/allele/PA2827559952", "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350672.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337601.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337601.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519555" }, { "@id": "http://reg.genome.network/allele/PA2827560240", "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350673.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337602.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337602.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519556" }, { "@id": "http://reg.genome.network/allele/PA2827560528", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350674.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337603.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337603.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519557" }, { "@id": "http://reg.genome.network/allele/PA2827560816", "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350675.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337604.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337604.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519558" }, { "@id": "http://reg.genome.network/allele/PA2827561104", "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350676.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337605.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337605.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519559" }, { "@id": "http://reg.genome.network/allele/PA2827561392", "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350677.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337606.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337606.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519560" }, { "@id": "http://reg.genome.network/allele/PA2827561680", "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350678.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337607.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337607.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519561" }, { "@id": "http://reg.genome.network/allele/PA2827561968", "coordinates": [ { "allele": "T", "end": 779, "referenceAllele": "C", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350679.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337608.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337608.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519562" }, { "@id": "http://reg.genome.network/allele/PA2827562256", "coordinates": [ { "allele": "T", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350680.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337609.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337609.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519563" }, { "@id": "http://reg.genome.network/allele/PA2827562544", "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350681.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337610.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337610.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519564" }, { "@id": "http://reg.genome.network/allele/PA2827562832", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350682.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337611.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337611.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519565" }, { "@id": "http://reg.genome.network/allele/PA2827563120", "coordinates": [ { "allele": "T", "end": 813, "referenceAllele": "C", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350683.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337612.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337612.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519566" }, { "@id": "http://reg.genome.network/allele/PA2827563408", "coordinates": [ { "allele": "T", "end": 944, "referenceAllele": "C", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350684.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337613.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337613.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519567" }, { "@id": "http://reg.genome.network/allele/PA2827563696", "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350685.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337614.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337614.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519568" }, { "@id": "http://reg.genome.network/allele/PA2827563984", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350686.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337615.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337615.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519569" }, { "@id": "http://reg.genome.network/allele/PA2827564272", "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350687.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337616.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337616.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519570" }, { "@id": "http://reg.genome.network/allele/PA2827564560", "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350688.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337617.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337617.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519571" }, { "@id": "http://reg.genome.network/allele/PA2827564848", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350689.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337618.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337618.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519572" }, { "@id": "http://reg.genome.network/allele/PA2827565136", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350690.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337619.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337619.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519573" }, { "@id": "http://reg.genome.network/allele/PA2827565424", "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350691.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337620.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337620.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519574" }, { "@id": "http://reg.genome.network/allele/PA2827565712", "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350692.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337621.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337621.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519575" }, { "@id": "http://reg.genome.network/allele/PA2827566000", "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350693.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337622.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337622.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519576" }, { "@id": "http://reg.genome.network/allele/PA2827566288", "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350694.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337623.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337623.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519577" }, { "@id": "http://reg.genome.network/allele/PA2827566576", "coordinates": [ { "allele": "T", "end": 926, "referenceAllele": "C", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350695.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337624.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337624.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519578" }, { "@id": "http://reg.genome.network/allele/PA2827566864", "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350696.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337625.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337625.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519579" }, { "@id": "http://reg.genome.network/allele/PA2827567152", "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350697.1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_001337626.1:p.Gln84Ter", "hgvsWellDefined": "NP_001337626.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519580" }, { "@id": "http://reg.genome.network/allele/PA2829579281", "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.4:c.250C>T" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Gln84Ter", "hgvsWellDefined": "NP_004903.2:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525261" }, { "@id": "http://reg.genome.network/allele/PA2830425493", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.2:c.250C>T" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Gln84Ter", "hgvsWellDefined": "NP_919436.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526936" }, { "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.4:c.250C>T" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Gln84Ter", "hgvsWellDefined": "XP_005250723.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533474" }, { "coordinates": [ { "allele": "T", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.4:c.250C>T" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Gln84Ter", "hgvsWellDefined": "XP_006716225.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539113" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.3:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514953.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544249" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.3:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514956.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544250" }, { "coordinates": [ { "allele": "T", "end": 548, "referenceAllele": "C", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.3:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514957.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544251" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.3:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514960.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544252" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.3:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514961.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.250C>T" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Gln84Ter", "hgvsWellDefined": "XP_011514962.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.-334C>T" ], "proteinEffect": { "hgvs": "XP_016868247.1:n.-334C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_024302750.1:p.Gln84Ter", "hgvsWellDefined": "XP_024302750.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580610" }, { "coordinates": [ { "allele": "T", "end": 584, "referenceAllele": "C", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446983.1:c.250C>T" ], "proteinEffect": { "hgvs": "XP_024302751.1:p.Gln84Ter", "hgvsWellDefined": "XP_024302751.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.-1569C>T" ], "proteinEffect": { "hgvs": "XP_024302752.1:n.-1569C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "@id": "http://reg.genome.network/allele/PA2830425493", "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.250C>T" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Gln84Ter", "hgvsWellDefined": "NP_919436.1:p.Gln84_Ser736delinsGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.250C>T" }, "RefSeq": { "hgvs": "NM_194454.3:c.250C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Gln84Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Gln84Ter" } } } } ], "type": "nucleotide" }