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"geneSymbol": "PITX2", "hgvs": [ "NM_001204397.1:c.286C>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Gln96Ter", "hgvsWellDefined": "NP_001191326.1:p.Gln96_Val317delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017634" }, { "@id": "http://reg.genome.network/allele/PA2826271617", "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204398.1:c.286C>T" ], "proteinEffect": { "hgvs": "NP_001191327.1:p.Gln96Ter", "hgvsWellDefined": "NP_001191327.1:p.Gln96_Val317delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017635" }, { "@id": "http://reg.genome.network/allele/PA2826271700", "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204399.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001191328.1:p.Gln50Ter", "hgvsWellDefined": "NP_001191328.1:p.Gln50_Val271delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017636" }, { "@id": "http://reg.genome.network/allele/PA916055309", "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.2:c.286C>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Gln96Ter", "hgvsWellDefined": "NP_700475.1:p.Gln96_Val317delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042385" }, { "@id": "http://reg.genome.network/allele/PA658741279", "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Gln50Ter", "hgvsWellDefined": "NP_700476.1:p.Gln50_Val271delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042386" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_006714235.2:c.286C>T" ], "proteinEffect": { "hgvs": "XP_006714298.1:p.Gln96Ter", "hgvsWellDefined": "XP_006714298.1:p.Gln96_Val317delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070560" }, { "coordinates": [ { "allele": "T", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_011532027.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_011530329.1:p.Gln50Ter", "hgvsWellDefined": "XP_011530329.1:p.Gln50_Val271delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099055" }, { "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_024454090.1:c.-48C>T" ], "proteinEffect": { "hgvs": "XP_024309858.1:n.-48C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS587460" }, { "@id": "http://reg.genome.network/allele/PA2825123324", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.6:c.307C>T" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Gln103Ter", "hgvsWellDefined": "NP_000316.2:p.Gln103_Val324delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.307C>T" }, "RefSeq": { "hgvs": "NM_000325.6:c.307C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Gln103Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Gln103Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826271542", "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.2:c.286C>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Gln96Ter", "hgvsWellDefined": "NP_001191326.1:p.Gln96_Val317delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781738" }, { "@id": "http://reg.genome.network/allele/PA916055309", "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.3:c.286C>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Gln96Ter", "hgvsWellDefined": "NP_700475.1:p.Gln96_Val317delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784313" }, { "@id": "http://reg.genome.network/allele/PA658741279", "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "C", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.3:c.148C>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Gln50Ter", "hgvsWellDefined": "NP_700476.1:p.Gln50_Val271delinsLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784314" } ], "type": "nucleotide" }