{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4339454", "communityStandardTitle": [ "NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512829[alleleid]", "alleleId": 512829, "preferredName": "NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522191", "RCV": [ "RCV000624959" ], "variationId": 522191 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-91870373-G-A", "id": "7-91870373-G-A", "variant": "7:91870373 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.91870373G>A?assembly=hg19", "id": "chr7:g.91870373G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92241059G>A?assembly=hg38", "id": "chr7:g.92241059G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/771656368", "rs": 771656368 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-91870373-G-A?dataset=gnomad_r2_1", "id": "7-91870373-G-A", "variant": "7:91870373 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-92241059-G-A?dataset=gnomad_r4", "id": "7-92241059-G-A", "variant": "7:92241059 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 92241059, "referenceAllele": "G", "start": 92241058 } ], "hgvs": [ "NC_000007.14:g.92241059G>A", "CM000669.2:g.92241059G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 91870373, "referenceAllele": "G", "start": 91870372 } ], "hgvs": [ "NC_000007.13:g.91870373G>A", "CM000669.1:g.91870373G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 91708309, "referenceAllele": "G", "start": 91708308 } ], "hgvs": [ "NC_000007.12:g.91708309G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 10042, "referenceAllele": "C", "start": 10041 } ], "hgvs": [ "NG_012964.1:g.10042C>T", "LRG_650:g.10042C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002634" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000413688.6:n.593C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824636" }, { "coordinates": [ { "allele": "T", "end": 1502, "referenceAllele": "C", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000422347.6:n.1502C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824714" }, { "coordinates": [ { "allele": "T", "end": 3357, "referenceAllele": "C", "start": 3356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425073.2:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000404790.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000404790.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824766" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425919.6:n.1151C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824776" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000430102.6:n.834C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824814" }, { "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "C", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000410104.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000410104.2:p.Gln66_Ser483delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuArgMetMetPhePheArgProSerThrGlnThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824846" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000444960.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000388076.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000388076.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824957" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.2:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000404084.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000404084.2:p.Gln66_Ser526delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnLeuLeuMetLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824964" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000405835.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000405835.2:p.Gln66_Ser582delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825048" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.7:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825091" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "hgvs": [ "ENST00000458493.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000396352.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000396352.2:p.Gln66_Phe896delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspGluLysIleLeuGluLysIlePheLysIleValAlaAsnAsnIleThrGluThrAsnPheGluPheLeuCysGlnLysLeuAsnLeuAlaAsnSerGluThrAspMetProThrLysSerThrValSerLeuSerGluArgAlaHisGlnAlaLeuValIleTrpLysThrGlnSerAsnLysLeuSerLeuThrAlaAlaAlaLeuArgAspGlnLeuIleArgAlaLeuThrMetIleGlyAlaTyrGluIleMetAspLysIleThrAlaLeuAsnLeuPheThrArgAlaIleLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825095" }, { "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "C", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000489087.2:n.3969C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825401" }, { "coordinates": [ { "allele": "T", "end": 698, "referenceAllele": "C", "start": 697 } ], "hgvs": [ "ENST00000650585.2:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000498010.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000498010.2:p.Gln66_His799delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826807" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000684808.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000508621.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000508621.1:p.Gln66_Gly120delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829744" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685285.1:n.686C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829988" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685431.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509995.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509995.1:p.Gln66_Phe629delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830070" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686043.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510108.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510108.1:p.Gln66_Arg201delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830373" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686094.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510015.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510015.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830397" }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686233.1:n.591C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830468" }, { "coordinates": [ { "allele": "T", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686527.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509139.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509139.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830615" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686619.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509512.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509512.1:p.Gln66_Val424delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProLeuSerPheLeuValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830662" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686785.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000508596.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000508596.1:p.Gln66_Ser169delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspAsnPheIleProThrPheSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830741" }, { "coordinates": [ { "allele": "T", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687135.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509617.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509617.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830925" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687517.1:n.573C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831125" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687627.1:n.686C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831182" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687876.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509086.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509086.1:p.Gln66_Gly120delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831306" }, { "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688196.1:n.556C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831492" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688314.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510229.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510229.1:p.Gln66_Arg201delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831557" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688404.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509939.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509939.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831610" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688665.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509209.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509209.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831752" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688766.1:n.537C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831803" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688781.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510196.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510196.1:p.Gln66_Met99delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgValPhePheLysValHisProSerProPheLysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831816" }, { "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "C", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689411.1:n.1365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832156" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689539.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510360.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510360.1:p.Gln66_Phe677delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832228" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689556.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000508543.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000508543.1:p.Gln66_Ser688delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832238" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689778.1:n.735C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832359" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689789.1:n.917C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832367" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690292.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510303.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510303.1:p.Gln66_Lys162delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832635" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690529.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510733.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510733.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832745" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690720.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509832.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509832.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832846" }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690751.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509101.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509101.1:p.Gln66_Gly89delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832859" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690904.1:n.646C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832937" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690908.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510110.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510110.1:p.Gln66_Ser688delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832940" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "C", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691222.1:n.2057C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833106" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691239.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000508475.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000508475.1:p.Gln66_Ala262delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgGluLeuGlnThrThrGlnLysSerLysTyrLeuAsnArgLysAsnGlyArgGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833117" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691622.1:n.686C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833300" }, { 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"hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS833472" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692000.1:n.573C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833487" }, { "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "C", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692157.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509514.1:p.Gln66Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS833571" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692205.1:n.573C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833598" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "hgvs": [ "ENST00000692281.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510568.1:p.Gln66Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS833638" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692361.1:n.573C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833682" }, { "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692428.1:n.1217C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833716" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692690.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000509642.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000509642.1:p.Gln66_Gly89delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833834" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692807.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000508564.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000508564.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833900" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000693563.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000510120.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000510120.1:p.Gln66_Arg201delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834312" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.7:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.196C>T" }, "RefSeq": { "hgvs": "NM_194454.3:c.196C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Gln66Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Gln66Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756625" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "hgvs": [ "ENST00000650585.1:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000498010.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000498010.1:p.Gln66_Lys708del" }, "referenceSequence": "http://reg.genome.network/refseq/RS771194" }, { "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000340022.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000344668.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000344668.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261003" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394503.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000378011.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000378011.2:p.Gln66_Ser688delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276194" }, { "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "C", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276195" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394507.5:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000378015.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000378015.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276196" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000412043.6:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000410909.2:p.Gln66Ter", "hgvsWellDefined": "ENSP00000410909.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282437" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000413688.5:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000410467.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000410467.1:p.Gln66Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS283184" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000430102.5:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000391540.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000391540.1:p.Gln66_Pro98del" }, "referenceSequence": "http://reg.genome.network/refseq/RS290984" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.5:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000410104.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000410104.1:p.Gln66Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS292344" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000440209.5:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000396042.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000396042.1:p.Gln66_Ile112del" }, "referenceSequence": "http://reg.genome.network/refseq/RS295777" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.5:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000405835.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000405835.1:p.Gln66Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302379" }, { "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.5:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000391675.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000391675.1:p.Gln66_Arg243del" }, "referenceSequence": "http://reg.genome.network/refseq/RS304284" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458493.5:c.196C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304428" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000470309.5:n.370C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312777" }, { "coordinates": [ { "allele": "T", "end": 61, "referenceAllele": "C", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000486261.5:n.61C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS325108" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000611677.4:c.196C>T" ], "proteinEffect": { "hgvs": "ENSP00000478777.1:p.Gln66Ter", "hgvsWellDefined": "ENSP00000478777.1:p.Gln66_Leu565delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnSerLeuTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400961" }, { "@id": "http://reg.genome.network/allele/PA2825316817", "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Gln66Ter", "hgvsWellDefined": "NP_001013424.1:p.Gln66_Ser688delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008403" }, { "@id": "http://reg.genome.network/allele/PA2829579271", "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.3:c.196C>T" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Gln66Ter", "hgvsWellDefined": "NP_004903.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030049" }, { "@id": "http://reg.genome.network/allele/PA2830425486", "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Gln66Ter", "hgvsWellDefined": "NP_919436.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044364" }, { "@id": "http://reg.genome.network/allele/PA2830425774", "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194455.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_919437.1:p.Gln66Ter", "hgvsWellDefined": "NP_919437.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044365" }, { "@id": "http://reg.genome.network/allele/PA658809166", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194456.1:c.196C>T", "LRG_650t1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_919438.1:p.Gln66Ter", "hgvsWellDefined": "NP_919438.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044366" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250660.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250717.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250717.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059246" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250662.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250719.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250719.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059247" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250664.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250721.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250721.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059248" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250665.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250722.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250722.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059249" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250723.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059250" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250667.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250724.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250724.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059251" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250668.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250725.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250725.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059252" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250669.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250726.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250726.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059253" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716160.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_006716223.1:p.Gln66Ter", "hgvsWellDefined": "XP_006716223.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071530" }, { "coordinates": [ { "allele": "T", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716161.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_006716224.1:p.Gln66Ter", "hgvsWellDefined": "XP_006716224.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071531" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Gln66Ter", "hgvsWellDefined": "XP_006716225.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071532" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716163.2:c.196C>T" ], "proteinEffect": { "hgvs": "XP_006716226.1:p.Gln66Ter", "hgvsWellDefined": "XP_006716226.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071533" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514953.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083851" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516652.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514954.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514954.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083852" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516653.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514955.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514955.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083853" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514956.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083854" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514957.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083855" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516656.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514958.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514958.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083856" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516657.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514959.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514959.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083857" }, { "coordinates": [ { "allele": "T", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514960.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083858" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514961.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083859" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514962.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083860" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516661.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514963.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514963.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083861" }, { "@id": "http://reg.genome.network/allele/PA2825316817", "coordinates": [ { "allele": "T", "end": 779, "referenceAllele": "C", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.2:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Gln66Ter", "hgvsWellDefined": "NP_001013424.1:p.Gln66_Ser688delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511027" }, { "@id": "http://reg.genome.network/allele/PA2827559232", "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350669.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337598.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337598.1:p.Gln66_Ser688delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519552" }, { "@id": "http://reg.genome.network/allele/PA2827559501", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350670.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337599.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337599.1:p.Gln66_Ser688delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519553" }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350671.1:c.-388C>T" ], "proteinEffect": { "hgvs": "NP_001337600.1:n.-388C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS519554" }, { "@id": "http://reg.genome.network/allele/PA2827559943", "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "C", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350672.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337601.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337601.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519555" }, { "@id": "http://reg.genome.network/allele/PA2827560232", "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350673.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337602.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337602.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519556" }, { "@id": "http://reg.genome.network/allele/PA2827560520", "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350674.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337603.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337603.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519557" }, { "@id": "http://reg.genome.network/allele/PA2827560807", "coordinates": [ { "allele": "T", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350675.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337604.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337604.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519558" }, { "@id": "http://reg.genome.network/allele/PA2827561095", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350676.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337605.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337605.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519559" }, { "@id": "http://reg.genome.network/allele/PA2827561384", "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350677.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337606.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337606.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519560" }, { "@id": "http://reg.genome.network/allele/PA2827561671", "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350678.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337607.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337607.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519561" }, { "@id": "http://reg.genome.network/allele/PA2827561959", "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350679.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337608.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337608.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519562" }, { "@id": "http://reg.genome.network/allele/PA2827562248", "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350680.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337609.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337609.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519563" }, { "@id": "http://reg.genome.network/allele/PA2827562535", "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "C", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350681.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337610.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337610.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519564" }, { "@id": "http://reg.genome.network/allele/PA2827562823", "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350682.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337611.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337611.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519565" }, { "@id": "http://reg.genome.network/allele/PA2827563111", "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350683.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337612.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337612.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519566" }, { "@id": "http://reg.genome.network/allele/PA2827563400", "coordinates": [ { "allele": "T", "end": 890, "referenceAllele": "C", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350684.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337613.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337613.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519567" }, { "@id": "http://reg.genome.network/allele/PA2827563688", "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350685.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337614.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337614.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519568" }, { "@id": "http://reg.genome.network/allele/PA2827563975", "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350686.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337615.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337615.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519569" }, { "@id": "http://reg.genome.network/allele/PA2827564264", "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350687.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337616.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337616.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519570" }, { "@id": "http://reg.genome.network/allele/PA2827564551", "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350688.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337617.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337617.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519571" }, { "@id": "http://reg.genome.network/allele/PA2827564839", "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350689.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337618.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337618.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519572" }, { "@id": "http://reg.genome.network/allele/PA2827565128", "coordinates": [ { "allele": "T", "end": 779, "referenceAllele": "C", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350690.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337619.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337619.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519573" }, { "@id": "http://reg.genome.network/allele/PA2827565415", "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350691.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337620.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337620.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519574" }, { "@id": "http://reg.genome.network/allele/PA2827565704", "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350692.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337621.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337621.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519575" }, { "@id": "http://reg.genome.network/allele/PA2827565991", "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350693.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337622.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337622.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519576" }, { "@id": "http://reg.genome.network/allele/PA2827566280", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350694.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337623.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337623.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519577" }, { "@id": "http://reg.genome.network/allele/PA2827566568", "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350695.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337624.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337624.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519578" }, { "@id": "http://reg.genome.network/allele/PA2827566855", "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350696.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337625.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337625.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519579" }, { "@id": "http://reg.genome.network/allele/PA2827567144", "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350697.1:c.196C>T" ], "proteinEffect": { "hgvs": "NP_001337626.1:p.Gln66Ter", "hgvsWellDefined": "NP_001337626.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519580" }, { "@id": "http://reg.genome.network/allele/PA2829579271", "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.4:c.196C>T" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Gln66Ter", "hgvsWellDefined": "NP_004903.2:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525261" }, { "@id": "http://reg.genome.network/allele/PA2830425486", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.2:c.196C>T" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Gln66Ter", "hgvsWellDefined": "NP_919436.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526936" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.4:c.196C>T" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Gln66Ter", "hgvsWellDefined": "XP_005250723.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533474" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.4:c.196C>T" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Gln66Ter", "hgvsWellDefined": "XP_006716225.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539113" }, { "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.3:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514953.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544249" }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.3:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514956.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544250" }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.3:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514957.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544251" }, { "coordinates": [ { "allele": "T", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.3:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514960.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544252" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.3:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514961.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.196C>T" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Gln66Ter", "hgvsWellDefined": "XP_011514962.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.-388C>T" ], "proteinEffect": { "hgvs": "XP_016868247.1:n.-388C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_024302750.1:p.Gln66Ter", "hgvsWellDefined": "XP_024302750.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580610" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446983.1:c.196C>T" ], "proteinEffect": { "hgvs": "XP_024302751.1:p.Gln66Ter", "hgvsWellDefined": "XP_024302751.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.-1623C>T" ], "proteinEffect": { "hgvs": "XP_024302752.1:n.-1623C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "@id": "http://reg.genome.network/allele/PA2830425486", "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.196C>T" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Gln66Ter", "hgvsWellDefined": "NP_919436.1:p.Gln66_Ser736delinsGlyIleLeuAspTyrValValGluThrThrLysProIleSerProAlaAsnGlnGlyIleArgGlyLysArgValValLeuMetLysLysPheProLeuAspGlyGluLysMetGlyArgGluAlaSerLeuPheIleValProSerValValLysAspAsnThrLysTyrThrTyrThrProGlyCysProIlePheTyrCysLeuGlnAspIleMetArgValCysSerGluSerSerThrHisPheAlaThrLeuThrAlaArgMetLeuIleAlaLeuAspLysTrpLeuAspGluArgHisAlaGlnSerHisPheIleProAlaLeuPheArgProSerProLeuGluArgIleLysThrAsnValIleAsnProAlaTyrAlaThrGluSerGlyGlnThrGluAsnSerLeuHisMetGlyTyrSerAlaLeuGluIleLysSerLysMetLeuAlaLeuGluLysAlaAspThrCysIleTyrAsnProLeuPheGlySerAspLeuGlnTyrThrAsnArgValAspLysValValIleAsnProTyrPheGlyLeuGlyAlaProAspTyrSerLysIleGlnIleProLysGlnGluLysTrpGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.196C>T" }, "RefSeq": { "hgvs": "NM_194454.3:c.196C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Gln66Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Gln66Ter" } } } } ], "type": "nucleotide" }