{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368158496", "communityStandardTitle": [ "NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457572[alleleid]", "alleleId": 457572, "preferredName": "NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/468220", "RCV": [ "RCV000542725" ], "variationId": 468220 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.91864155C>T?assembly=hg19", "id": "chr7:g.91864155C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92234841C>T?assembly=hg38", "id": "chr7:g.92234841C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554527779", "rs": 1554527779 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 92234841, "referenceAllele": "C", "start": 92234840 } ], "hgvs": [ "NC_000007.14:g.92234841C>T", "CM000669.2:g.92234841C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91864155, "referenceAllele": "C", "start": 91864154 } ], "hgvs": [ "NC_000007.13:g.91864155C>T", "CM000669.1:g.91864155C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91702091, "referenceAllele": "C", "start": 91702090 } ], "hgvs": [ "NC_000007.12:g.91702091C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 16260, "referenceAllele": "G", "start": 16259 } ], "hgvs": [ "NG_012964.1:g.16260G>A", "LRG_650:g.16260G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002634" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3973, "referenceAllele": "G", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425073.2:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000404790.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000404790.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824766" }, { "coordinates": [ { "allele": "A", "end": 1981, "referenceAllele": "G", "start": 1980 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000410104.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000410104.2:p.Trp271_Ser483delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuArgMetMetPhePheArgProSerThrGlnThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824846" }, { "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000444960.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000388076.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000388076.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824957" }, { "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.2:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000404084.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000404084.2:p.Trp271_Ser526delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnLeuLeuMetLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824964" }, { "coordinates": [ { "allele": "A", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000405835.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000405835.2:p.Trp271_Ser582delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825048" }, { "coordinates": [ { "allele": "A", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.7:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825091" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "hgvs": [ "ENST00000458493.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000396352.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000396352.2:p.Trp271_Phe896delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspGluLysIleLeuGluLysIlePheLysIleValAlaAsnAsnIleThrGluThrAsnPheGluPheLeuCysGlnLysLeuAsnLeuAlaAsnSerGluThrAspMetProThrLysSerThrValSerLeuSerGluArgAlaHisGlnAlaLeuValIleTrpLysThrGlnSerAsnLysLeuSerLeuThrAlaAlaAlaLeuArgAspGlnLeuIleArgAlaLeuThrMetIleGlyAlaTyrGluIleMetAspLysIleThrAlaLeuAsnLeuPheThrArgAlaIleLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825095" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.6:n.1043G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825265" }, { "coordinates": [ { "allele": "A", "end": 1314, "referenceAllele": "G", "start": 1313 } ], "hgvs": [ "ENST00000650585.2:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000498010.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000498010.2:p.Trp271_His799delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826807" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000684808.1:c.*319G>A" ], "proteinEffect": { "hgvs": "ENSP00000508621.1:n.*319G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829744" }, { "coordinates": [ { "allele": "A", "end": 1781, "referenceAllele": "G", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685285.1:n.1781G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829988" }, { "coordinates": [ { "allele": "A", "end": 1302, "referenceAllele": "G", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685431.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509995.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509995.1:p.Trp271_Phe629delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830070" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686043.1:c.*75G>A" ], "proteinEffect": { "hgvs": "ENSP00000510108.1:n.*75G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830373" }, { "coordinates": [ { "allele": "A", "end": 1120, "referenceAllele": "G", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686094.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000510015.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000510015.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830397" }, { "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "G", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686149.1:n.2291G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830422" }, { "coordinates": [ { "allele": "A", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686233.1:n.1200G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830468" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "G", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686527.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509139.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509139.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830615" }, { "coordinates": [ { "allele": "A", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686619.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509512.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509512.1:p.Trp271_Val424delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProLeuSerPheLeuValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830662" }, { "coordinates": [ { "allele": "A", "end": 1079, "endIntronDirection": "+", "endIntronOffset": 562, "referenceAllele": "G", "start": 1079, "startIntronDirection": "+", "startIntronOffset": 561 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686785.1:c.*178+562G>A" ], "proteinEffect": { "hgvs": "ENSP00000508596.1:n.*178+562G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830741" }, { "coordinates": [ { "allele": "A", "end": 1417, "referenceAllele": "G", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687135.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509617.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509617.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830925" }, { "coordinates": [ { "allele": "A", "end": 1302, "referenceAllele": "G", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687627.1:n.1302G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831182" }, { "coordinates": [ { "allele": "A", "end": 1696, "referenceAllele": "G", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687876.1:c.*319G>A" ], "proteinEffect": { "hgvs": "ENSP00000509086.1:n.*319G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831306" }, { "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688196.1:n.1172G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831492" }, { "coordinates": [ { "allele": "A", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688314.1:c.*75G>A" ], "proteinEffect": { "hgvs": "ENSP00000510229.1:n.*75G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831557" }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "G", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688404.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509939.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509939.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831610" }, { "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688665.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509209.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509209.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831752" }, { "coordinates": [ { "allele": "A", "end": 1919, "referenceAllele": "G", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688766.1:n.1919G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831803" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "G", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688781.1:c.*622G>A" ], "proteinEffect": { "hgvs": "ENSP00000510196.1:n.*622G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831816" }, { "coordinates": [ { "allele": "A", "end": 1634, "referenceAllele": "G", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689082.1:n.1634G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831978" }, { "coordinates": [ { "allele": "A", "end": 2747, "referenceAllele": "G", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689411.1:n.2747G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832156" }, { "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689539.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000510360.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000510360.1:p.Trp271_Phe677delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832228" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689556.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000508543.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000508543.1:p.Trp271_Ser688delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832238" }, { "coordinates": [ { "allele": "A", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689778.1:n.1351G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832359" }, { "coordinates": [ { "allele": "A", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690292.1:c.*447G>A" ], "proteinEffect": { "hgvs": "ENSP00000510303.1:n.*447G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832635" }, { "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690529.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000510733.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000510733.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832745" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690720.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509832.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509832.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832846" }, { "coordinates": [ { "allele": "A", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690751.1:c.*319G>A" ], "proteinEffect": { "hgvs": "ENSP00000509101.1:n.*319G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832859" }, { "coordinates": [ { "allele": "A", "end": 1945, "endIntronDirection": "+", "endIntronOffset": 562, "referenceAllele": "G", "start": 1945, "startIntronDirection": "+", "startIntronOffset": 561 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690904.1:n.1945+562G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832937" }, { "coordinates": [ { "allele": "A", "end": 1302, "referenceAllele": "G", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690908.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000510110.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000510110.1:p.Trp271_Ser688delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832940" }, { "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691239.1:c.775G>A" ], "proteinEffect": { "hgvs": "ENSP00000508475.1:p.Gly259Ser", "hgvsWellDefined": "ENSP00000508475.1:p.Gly259Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS833117" }, { "coordinates": [ { "allele": "A", "end": 1302, "referenceAllele": "G", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691622.1:n.1302G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833300" }, { "coordinates": [ { "allele": "A", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691827.1:c.*622G>A" ], "proteinEffect": { "hgvs": "ENSP00000508551.1:n.*622G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833399" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "hgvs": [ "ENST00000691972.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000510591.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000510591.1:p.Trp271_His799delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLeuThrArgLeuProGlyGluLeuSerAsnMetThrGlnLeuLysGluLeuAspIleSerAsnAsnAlaIleArgGluIleProArgAsnIleGlyGluLeuArgAsnLeuValSerLeuHisAlaTyrAsnAsnGlnIleSerTyrLeuProProSerLeuLeuSerLeuAsnAspLeuGlnGlnLeuAsnLeuSerGlyAsnAsnLeuThrAlaLeuProSerAlaIleTyrAsnIlePheSerLeuLysGluIleAsnPheAspAspAsnProLeuLeuArgProProValGluIleCysLysGlyLysGlnLeuTyrThrIleAlaArgTyrLeuGlnArgAlaAspGluArgAspAlaLeuPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833472" }, { "coordinates": [ { "allele": "A", "end": 1955, "referenceAllele": "G", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692000.1:n.1955G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833487" }, { "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692157.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000509514.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000509514.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833571" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692205.1:n.1189G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833598" }, { "coordinates": [ { "allele": "A", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "hgvs": [ "ENST00000692281.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000510568.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000510568.1:p.Trp271_Lys1120delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysLysSerProProTyrIlePheSerProIleProPheLeuGlyHisAlaIleAlaPheGlyLysSerProIleGluPheLeuGluAsnAlaTyrGluLysTyrGlyProValPheSerPheThrMetValGlyLysThrPheThrTyrLeuLeuGlySerAspAlaAlaAlaLeuLeuPheAsnSerLysAsnGluAspLeuAsnAlaGluAspValTyrSerArgLeuThrThrProValPheGlyLysGlyValAlaTyrAspValProAsnProValPheLeuGluGlnLysLysMetLeuLysSerGlyLeuAsnIleAlaHisPheLysGlnHisValSerIleIleGluLysGluThrLysGluTyrPheGluSerTrpGlyGluSerGlyGluLysAsnValPheGluAlaLeuSerGluLeuIleIleLeuThrAlaSerHisCysLeuHisGlyLysGluIleArgSerGlnLeuAsnGluLysValAlaGlnLeuTyrAlaAspLeuAspGlyGlyPheSerHisAlaAlaTrpLeuLeuProGlyTrpLeuProLeuProSerPheArgArgArgAspArgAlaHisArgGluIleLysAspIlePheTyrLysAlaIleGlnLysArgArgGlnSerGlnGluLysIleAspAspIleLeuGlnThrLeuLeuAspAlaThrTyrLysAspGlyArgProLeuThrAspAspGluValAlaGlyMetLeuIleGlyLeuLeuLeuAlaGlyGlnHisThrSerSerThrThrSerAlaTrpMetGlyPhePheLeuAlaArgAspLysThrLeuGlnLysLysCysTyrLeuGluGlnLysThrValCysGlyGluAsnLeuProProLeuThrTyrAspGlnLeuLysAspLeuAsnLeuLeuAspArgCysIleLysGluThrLeuArgLeuArgProProIleMetIleMetMetArgMetAlaArgThrProGlnThrValAlaGlyTyrThrIleProProGlyHisGlnValCysValSerProThrValAsnGlnArgLeuLysAspSerTrpValGluArgLeuAspPheAsnProAspArgTyrLeuGlnAspAsnProAlaSerGlyGluLysPheAlaTyrValProPheGlyAlaGlyArgHisArgCysIleGlyGluAsnPheAlaTyrValGlnIleLysThrIleTrpSerThrMetLeuArgLeuTyrGluPheAspLeuIleAspGlyTyrPheProThrValAsnTyrThrThrMetIleHisThrProGluAsnProValIleArgTyrLysArgArgSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833638" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692361.1:n.1189G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833682" }, { "coordinates": [ { "allele": "A", "end": 3078, "referenceAllele": "G", "start": 3077 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692428.1:n.3078G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833716" }, { "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "G", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692690.1:c.*319G>A" ], "proteinEffect": { "hgvs": "ENSP00000509642.1:n.*319G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833834" }, { "coordinates": [ { "allele": "A", "end": 1311, "referenceAllele": "G", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692807.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000508564.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000508564.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833900" }, { "coordinates": [ { "allele": "A", "end": 2853, "referenceAllele": "G", "start": 2852 } ], "hgvs": [ "ENST00000693096.1:n.2853G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834060" }, { "coordinates": [ { "allele": "A", "end": 710, "referenceAllele": "G", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000693563.1:c.*75G>A" ], "proteinEffect": { "hgvs": "ENSP00000510120.1:n.*75G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834312" }, { "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.7:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.812G>A" }, "RefSeq": { "hgvs": "NM_194454.3:c.812G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Trp271Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Trp271Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000391675.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756625" }, { "coordinates": [ { "allele": "A", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "hgvs": [ "ENST00000650585.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000498010.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000498010.1:p.Trp271_Lys708del" }, "referenceSequence": "http://reg.genome.network/refseq/RS771194" }, { "coordinates": [ { "allele": "A", "end": 1831, "referenceAllele": "G", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000340022.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000344668.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000344668.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261003" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394503.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000378011.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000378011.2:p.Trp271_Ser688delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276194" }, { "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000378013.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276195" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394507.5:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000378015.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000378015.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276196" }, { "coordinates": [ { "allele": "A", "end": 1601, "referenceAllele": "G", "start": 1600 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000412043.6:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000410909.2:p.Trp271Ter", "hgvsWellDefined": "ENSP00000410909.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282437" }, { "coordinates": [ { "allele": "A", "end": 165, "referenceAllele": "G", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.1:c.98G>A" ], "proteinEffect": { "hgvs": "ENSP00000404084.1:p.Trp33Ter", "hgvsWellDefined": "ENSP00000404084.1:p.Trp33Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS298317" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.5:n.454G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316976" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000486261.5:n.1443G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325108" }, { "coordinates": [ { "allele": "A", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000611677.4:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000478777.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000478777.1:p.Trp271_Leu565delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnSerLeuTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400961" }, { "@id": "http://reg.genome.network/allele/PA2825316939", "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Trp271Ter", "hgvsWellDefined": "NP_001013424.1:p.Trp271_Ser688delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008403" }, { "@id": "http://reg.genome.network/allele/PA2829579369", "coordinates": [ { "allele": "A", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.3:c.812G>A" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Trp271Ter", "hgvsWellDefined": "NP_004903.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030049" }, { "@id": "http://reg.genome.network/allele/PA2830425726", "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Trp271Ter", "hgvsWellDefined": "NP_919436.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044364" }, { "@id": "http://reg.genome.network/allele/PA2830425855", "coordinates": [ { "allele": "A", "end": 1831, "referenceAllele": "G", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194455.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_919437.1:p.Trp271Ter", "hgvsWellDefined": "NP_919437.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044365" }, { "@id": "http://reg.genome.network/allele/PA658670829", "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194456.1:c.812G>A", "LRG_650t1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_919438.1:p.Trp271Ter", "hgvsWellDefined": "NP_919438.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044366" }, { "coordinates": [ { "allele": "A", "end": 1324, "referenceAllele": "G", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250660.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250717.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250717.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059246" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250662.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250719.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250719.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059247" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250664.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250721.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250721.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059248" }, { "coordinates": [ { "allele": "A", "end": 1231, "referenceAllele": "G", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250665.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250722.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250722.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059249" }, { "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250723.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059250" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250667.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250724.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250724.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059251" }, { "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250668.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250725.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250725.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059252" }, { "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250669.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250726.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250726.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059253" }, { "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "G", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716160.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_006716223.1:p.Trp271Ter", "hgvsWellDefined": "XP_006716223.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071530" }, { "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "G", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716161.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_006716224.1:p.Trp271Ter", "hgvsWellDefined": "XP_006716224.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071531" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Trp271Ter", "hgvsWellDefined": "XP_006716225.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071532" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716163.2:c.812G>A" ], "proteinEffect": { "hgvs": "XP_006716226.1:p.Trp271Ter", "hgvsWellDefined": "XP_006716226.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071533" }, { "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514953.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083851" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516652.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514954.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514954.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083852" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516653.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514955.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514955.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083853" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514956.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083854" }, { "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514957.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083855" }, { "coordinates": [ { "allele": "A", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516656.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514958.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514958.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083856" }, { "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516657.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514959.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514959.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083857" }, { "coordinates": [ { "allele": "A", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514960.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083858" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514961.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083859" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514962.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083860" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516661.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514963.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514963.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083861" }, { "@id": "http://reg.genome.network/allele/PA2825316939", "coordinates": [ { "allele": "A", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.2:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001013424.1:p.Trp271Ter", "hgvsWellDefined": "NP_001013424.1:p.Trp271_Ser688delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511027" }, { "@id": "http://reg.genome.network/allele/PA2827559315", "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350669.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337598.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337598.1:p.Trp271_Ser688delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519552" }, { "@id": "http://reg.genome.network/allele/PA2827559583", "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "G", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350670.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337599.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337599.1:p.Trp271_Ser688delinsGlnArgSerMetSerSerValThrGluAspLysTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519553" }, { "@id": "http://reg.genome.network/allele/PA916030610", "coordinates": [ { "allele": "A", "end": 1589, "referenceAllele": "G", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350671.1:c.98G>A" ], "proteinEffect": { "hgvs": "NP_001337600.1:p.Trp33Ter", "hgvsWellDefined": "NP_001337600.1:p.Trp33_Ser498delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519554" }, { "@id": "http://reg.genome.network/allele/PA2827560025", "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350672.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337601.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337601.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519555" }, { "@id": "http://reg.genome.network/allele/PA2827560313", "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "G", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350673.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337602.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337602.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519556" }, { "@id": "http://reg.genome.network/allele/PA2827560601", "coordinates": [ { "allele": "A", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350674.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337603.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337603.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519557" }, { "@id": "http://reg.genome.network/allele/PA2827560889", "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350675.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337604.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337604.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519558" }, { "@id": "http://reg.genome.network/allele/PA2827561177", "coordinates": [ { "allele": "A", "end": 1390, "referenceAllele": "G", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350676.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337605.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337605.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519559" }, { "@id": "http://reg.genome.network/allele/PA2827561465", "coordinates": [ { "allele": "A", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350677.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337606.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337606.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519560" }, { "@id": "http://reg.genome.network/allele/PA2827561753", "coordinates": [ { "allele": "A", "end": 1259, "referenceAllele": "G", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350678.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337607.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337607.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519561" }, { "@id": "http://reg.genome.network/allele/PA2827562041", "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350679.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337608.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337608.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519562" }, { "@id": "http://reg.genome.network/allele/PA2827562329", "coordinates": [ { "allele": "A", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350680.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337609.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337609.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519563" }, { "@id": "http://reg.genome.network/allele/PA2827562617", "coordinates": [ { "allele": "A", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350681.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337610.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337610.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519564" }, { "@id": "http://reg.genome.network/allele/PA2827562905", "coordinates": [ { "allele": "A", "end": 1718, "referenceAllele": "G", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350682.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337611.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337611.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519565" }, { "@id": "http://reg.genome.network/allele/PA2827563193", "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350683.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337612.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337612.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519566" }, { "@id": "http://reg.genome.network/allele/PA2827563481", "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "G", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350684.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337613.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337613.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519567" }, { "@id": "http://reg.genome.network/allele/PA2827563769", "coordinates": [ { "allele": "A", "end": 1511, "referenceAllele": "G", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350685.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337614.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337614.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519568" }, { "@id": "http://reg.genome.network/allele/PA2827564057", "coordinates": [ { "allele": "A", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350686.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337615.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337615.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519569" }, { "@id": "http://reg.genome.network/allele/PA2827564345", "coordinates": [ { "allele": "A", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350687.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337616.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337616.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519570" }, { "@id": "http://reg.genome.network/allele/PA2827564633", "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350688.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337617.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337617.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519571" }, { "@id": "http://reg.genome.network/allele/PA2827564921", "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "G", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350689.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337618.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337618.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519572" }, { "@id": "http://reg.genome.network/allele/PA2827565209", "coordinates": [ { "allele": "A", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350690.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337619.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337619.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519573" }, { "@id": "http://reg.genome.network/allele/PA2827565497", "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350691.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337620.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337620.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519574" }, { "@id": "http://reg.genome.network/allele/PA2827565785", "coordinates": [ { "allele": "A", "end": 1636, "referenceAllele": "G", "start": 1635 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350692.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337621.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337621.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519575" }, { "@id": "http://reg.genome.network/allele/PA2827566073", "coordinates": [ { "allele": "A", "end": 1523, "referenceAllele": "G", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350693.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337622.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337622.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519576" }, { "@id": "http://reg.genome.network/allele/PA2827566361", "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "G", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350694.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337623.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337623.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519577" }, { "@id": "http://reg.genome.network/allele/PA2827566649", "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "G", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350695.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337624.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337624.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519578" }, { "@id": "http://reg.genome.network/allele/PA2827566937", "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350696.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337625.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337625.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519579" }, { "@id": "http://reg.genome.network/allele/PA2827567225", "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350697.1:c.812G>A" ], "proteinEffect": { "hgvs": "NP_001337626.1:p.Trp271Ter", "hgvsWellDefined": "NP_001337626.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519580" }, { "@id": "http://reg.genome.network/allele/PA2829579369", "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "G", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.4:c.812G>A" ], "proteinEffect": { "hgvs": "NP_004903.2:p.Trp271Ter", "hgvsWellDefined": "NP_004903.2:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525261" }, { "@id": "http://reg.genome.network/allele/PA2830425726", "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "G", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.2:c.812G>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Trp271Ter", "hgvsWellDefined": "NP_919436.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526936" }, { "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.4:c.812G>A" ], "proteinEffect": { "hgvs": "XP_005250723.1:p.Trp271Ter", "hgvsWellDefined": "XP_005250723.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533474" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.4:c.812G>A" ], "proteinEffect": { "hgvs": "XP_006716225.1:p.Trp271Ter", "hgvsWellDefined": "XP_006716225.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539113" }, { "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.3:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514953.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514953.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544249" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.3:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514956.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514956.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544250" }, { "coordinates": [ { "allele": "A", "end": 1110, "referenceAllele": "G", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.3:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514957.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514957.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544251" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.3:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514960.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514960.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544252" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.3:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514961.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514961.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.812G>A" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Trp271Ter", "hgvsWellDefined": "XP_011514962.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "G", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.98G>A" ], "proteinEffect": { "hgvs": "XP_016868247.1:p.Trp33Ter", "hgvsWellDefined": "XP_016868247.1:p.Trp33_Ser498delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_024302750.1:p.Trp271Ter", "hgvsWellDefined": "XP_024302750.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580610" }, { "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446983.1:c.812G>A" ], "proteinEffect": { "hgvs": "XP_024302751.1:p.Trp271Ter", "hgvsWellDefined": "XP_024302751.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "A", "end": 2113, "referenceAllele": "G", "start": 2112 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.-241G>A" ], "proteinEffect": { "hgvs": "XP_024302752.1:n.-241G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "@id": "http://reg.genome.network/allele/PA2830425726", "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.812G>A" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Trp271Ter", "hgvsWellDefined": "NP_919436.1:p.Trp271_Ser736delinsGlnArgSerMetSerSerValThrGluAspLysGluArgGlnTrpValAspAspPheProLeuHisArgSerAlaCysGluGlyAspSerGluLeuLeuSerArgLeuLeuSerGluArgPheSerValAsnGlnLeuAspSerAspHisTrpAlaProIleHisTyrAlaCysTrpTyrGlyLysValGluAlaThrArgIleLeuLeuGluLysGlyLysCysAsnProAsnLeuLeuAsnGlyGlnLeuSerSerProLeuHisPheAlaAlaGlyGlyGlyHisAlaGluIleValGlnIleLeuLeuAsnHisProGluThrAspArgHisIleThrAspGlnGlnGlyArgSerProLeuAsnIleCysGluGluAsnLysGlnAsnAsnTrpGluGluAlaAlaLysLeuLeuLysGluAlaIleAsnLysProTyrGluLysValArgIleTyrArgMetAspGlySerTyrArgSerValGluLeuLysHisGlyAsnAsnThrThrValGlnGlnIleMetGluGlyMetArgLeuSerGlnGluThrGlnGlnTyrPheThrIleTrpIleCysSerGluAsnLeuSerLeuGlnLeuLysProTyrHisLysProLeuGlnHisValArgAspTrpProGluIleLeuAlaGluLeuThrAsnLeuAspProGlnArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.812G>A" }, "RefSeq": { "hgvs": "NM_194454.3:c.812G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Trp271Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Trp271Ter" } } } } ], "type": "nucleotide" }