{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA121808", "communityStandardTitle": [ "NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1674670", "active": true, "id": "COSM1674670" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4369086", "active": true, "id": "COSM4369086" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26998[alleleid]", "alleleId": 26998, "preferredName": "NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11959", "RCV": [ "RCV000788845", "RCV000816190", "RCV000012737" ], "variationId": 11959 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.103046624C>T?assembly=hg19", "id": "chr9:g.103046624C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.100284342C>T?assembly=hg38", "id": "chr9:g.100284342C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121964994", "rs": 121964994 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-103046624-C-T?dataset=gnomad_r2_1", "id": "9-103046624-C-T", "variant": "9:103046624 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-100284342-C-T?dataset=gnomad_r4", "id": "9-100284342-C-T", "variant": "9:100284342 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 100284342, "referenceAllele": "C", "start": 100284341 } ], "hgvs": [ "NC_000009.12:g.100284342C>T", "CM000671.2:g.100284342C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 103046624, "referenceAllele": "C", "start": 103046623 } ], "hgvs": [ "NC_000009.11:g.103046624C>T", "CM000671.1:g.103046624C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 102086445, "referenceAllele": "C", "start": 102086444 } ], "hgvs": [ "NC_000009.10:g.102086445C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 190114, "referenceAllele": "C", "start": 190113 } ], "hgvs": [ "NG_008316.1:g.190114C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001023" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "ENST00000262457.7:c.1807C>T" ], "proteinEffect": { "hgvs": "ENSP00000262457.2:p.Arg603Ter", "hgvsWellDefined": "ENSP00000262457.2:p.Arg603_Pro1065delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742350", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262457.7:c.1807C>T" }, "RefSeq": { "hgvs": "NM_014425.5:c.1807C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262457.2:p.Arg603Ter" }, "RefSeq": { "hgvs": "NP_055240.2:p.Arg603Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "ENST00000262456.6:c.1807C>T" ], "proteinEffect": { "hgvs": "ENSP00000262456.2:p.Arg603Ter", "hgvsWellDefined": "ENSP00000262456.2:p.Arg603_Pro895delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251026" }, { "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "C", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "ENST00000262457.6:c.1807C>T" ], "proteinEffect": { "hgvs": "ENSP00000262457.2:p.Arg603Ter", "hgvsWellDefined": "ENSP00000262457.2:p.Arg603_Pro1065delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251027" }, { "@id": "http://reg.genome.network/allele/PA121809", "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_014425.3:c.1807C>T" ], "proteinEffect": { "hgvs": "NP_055240.2:p.Arg603Ter", "hgvsWellDefined": "NP_055240.2:p.Arg603_Pro1065delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033168" }, { "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_183245.2:c.1807C>T" ], "proteinEffect": { "hgvs": "NP_899068.1:p.Arg603Ter", "hgvsWellDefined": "NP_899068.1:p.Arg603_Pro895delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044253" }, { "coordinates": [ { "allele": "T", "end": 2116, "referenceAllele": "C", "start": 2115 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NR_051962.1:n.2116C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052333" }, { "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_005251923.3:c.1807C>T" ], "proteinEffect": { "hgvs": "XP_005251980.1:p.Arg603Ter", "hgvsWellDefined": "XP_005251980.1:p.Arg603_Pro1084delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059739" }, { "coordinates": [ { "allele": "T", "end": 2098, "referenceAllele": "C", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_005251924.3:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_005251981.1:p.Arg507Ter", "hgvsWellDefined": "XP_005251981.1:p.Arg507_Pro988delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059740" }, { "coordinates": [ { "allele": "T", "end": 2374, "referenceAllele": "C", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518531.1:c.1807C>T" ], "proteinEffect": { "hgvs": "XP_011516833.1:p.Arg603Ter", "hgvsWellDefined": "XP_011516833.1:p.Arg603_Pro1084delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085705" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518532.1:c.1807C>T" ], "proteinEffect": { "hgvs": "XP_011516834.1:p.Arg603Ter", "hgvsWellDefined": "XP_011516834.1:p.Arg603_Pro1084delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085706" }, { "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518533.1:c.1807C>T" ], "proteinEffect": { "hgvs": "XP_011516835.1:p.Arg603Ter", "hgvsWellDefined": "XP_011516835.1:p.Arg603_Pro1033delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085707" }, { "coordinates": [ { "allele": "T", "end": 2229, "referenceAllele": "C", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518534.1:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011516836.1:p.Arg507Ter", "hgvsWellDefined": "XP_011516836.1:p.Arg507_Pro988delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085708" }, { "coordinates": [ { "allele": "T", "end": 2113, "referenceAllele": "C", "start": 2112 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518535.1:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011516837.1:p.Arg507Ter", "hgvsWellDefined": "XP_011516837.1:p.Arg507_Pro988delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085709" }, { "coordinates": [ { "allele": "T", "end": 2184, "referenceAllele": "C", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518536.1:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011516838.1:p.Arg507Ter", "hgvsWellDefined": "XP_011516838.1:p.Arg507_Pro988delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085710" }, { "coordinates": [ { "allele": "T", "end": 1794, "referenceAllele": "C", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518537.1:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011516839.1:p.Arg507Ter", "hgvsWellDefined": "XP_011516839.1:p.Arg507_Pro988delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085711" }, { "coordinates": [ { "allele": "T", "end": 1543, "referenceAllele": "C", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518538.1:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011516840.1:p.Arg507Ter", "hgvsWellDefined": "XP_011516840.1:p.Arg507_Pro988delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085712" }, { "coordinates": [ { "allele": "T", "end": 2060, "referenceAllele": "C", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518539.1:c.1486C>T" ], "proteinEffect": { "hgvs": "XP_011516841.1:p.Arg496Ter", "hgvsWellDefined": "XP_011516841.1:p.Arg496_Pro958delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085713" }, { "coordinates": [ { "allele": "T", "end": 1664, "referenceAllele": "C", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518540.1:c.1486C>T" ], "proteinEffect": { "hgvs": "XP_011516842.1:p.Arg496Ter", "hgvsWellDefined": "XP_011516842.1:p.Arg496_Pro958delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085714" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518541.1:c.1486C>T" ], "proteinEffect": { "hgvs": "XP_011516843.1:p.Arg496Ter", "hgvsWellDefined": "XP_011516843.1:p.Arg496_Pro958delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085715" }, { "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518542.1:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011516844.1:p.Arg507Ter", "hgvsWellDefined": "XP_011516844.1:p.Arg507_Pro799delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085716" }, { "coordinates": [ { "allele": "T", "end": 1967, "referenceAllele": "C", "start": 1966 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518543.1:c.829C>T" ], "proteinEffect": { "hgvs": "XP_011516845.1:p.Arg277Ter", "hgvsWellDefined": "XP_011516845.1:p.Arg277_Pro739delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085717" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XM_011518544.1:c.829C>T" ], "proteinEffect": { "hgvs": "XP_011516846.1:p.Arg277Ter", "hgvsWellDefined": "XP_011516846.1:p.Arg277_Pro739delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085718" }, { "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XR_242585.1:n.2063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116311" }, { "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XR_242586.1:n.2063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116312" }, { "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "XR_428522.1:n.2063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118090" }, { "@id": "http://reg.genome.network/allele/PA2826989924", "coordinates": [ { "allele": "T", "end": 2151, "referenceAllele": "C", "start": 2150 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_001318381.1:c.1519C>T" ], "proteinEffect": { "hgvs": "NP_001305310.1:p.Arg507Ter", "hgvsWellDefined": "NP_001305310.1:p.Arg507_Pro969delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512867" }, { "@id": "http://reg.genome.network/allele/PA2826990370", "coordinates": [ { "allele": "T", "end": 2074, "referenceAllele": "C", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_001318382.1:c.829C>T" ], "proteinEffect": { "hgvs": "NP_001305311.1:p.Arg277Ter", "hgvsWellDefined": "NP_001305311.1:p.Arg277_Pro739delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512868" }, { "@id": "http://reg.genome.network/allele/PA121809", "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_014425.4:c.1807C>T" ], "proteinEffect": { "hgvs": "NP_055240.2:p.Arg603Ter", "hgvsWellDefined": "NP_055240.2:p.Arg603_Pro1065delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525581" }, { "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NR_134606.1:n.2063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527710" }, { "@id": "http://reg.genome.network/allele/PA121809", "coordinates": [ { "allele": "T", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_014425.5:c.1807C>T" ], "proteinEffect": { "hgvs": "NP_055240.2:p.Arg603Ter", "hgvsWellDefined": "NP_055240.2:p.Arg603_Pro1065delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668337", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262457.7:c.1807C>T" }, "RefSeq": { "hgvs": "NM_014425.5:c.1807C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262457.2:p.Arg603Ter" }, "RefSeq": { "hgvs": "NP_055240.2:p.Arg603Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826989924", "coordinates": [ { "allele": "T", "end": 2093, "referenceAllele": "C", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_001318381.2:c.1519C>T" ], "proteinEffect": { "hgvs": "NP_001305310.1:p.Arg507Ter", "hgvsWellDefined": "NP_001305310.1:p.Arg507_Pro969delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717547" }, { "@id": "http://reg.genome.network/allele/PA2826990370", "coordinates": [ { "allele": "T", "end": 2016, "referenceAllele": "C", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_001318382.2:c.829C>T" ], "proteinEffect": { "hgvs": "NP_001305311.1:p.Arg277Ter", "hgvsWellDefined": "NP_001305311.1:p.Arg277_Pro739delinsLysGluAlaGluGlnGlnLysGlyArgArgSerProAspSerCysArgProGlnAlaLeuProCysLeuProSerThrGlnAspValProSerArgGlnSerArgAlaProSerLysGlnProProAlaGlyAsnValAlaGlnGlyProGluProArgAspSerArgGlySerProGlyGlySerLeuGlyGlyAlaLeuGlnLysGluGlnHisValSerSerAspLeuGlnGlyThrAsnSerArgArgProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717548" }, { "coordinates": [ { "allele": "T", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NR_134606.2:n.2005C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730878" } ], "type": "nucleotide" }