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"NP_001191326.1:p.Glu99_Val317delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017634" }, { "@id": "http://reg.genome.network/allele/PA2826271619", "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204398.1:c.295G>T" ], "proteinEffect": { "hgvs": "NP_001191327.1:p.Glu99Ter", "hgvsWellDefined": "NP_001191327.1:p.Glu99_Val317delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017635" }, { "@id": "http://reg.genome.network/allele/PA2826271702", "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204399.1:c.157G>T" ], "proteinEffect": { "hgvs": "NP_001191328.1:p.Glu53Ter", "hgvsWellDefined": "NP_001191328.1:p.Glu53_Val271delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017636" }, { "@id": "http://reg.genome.network/allele/PA2573305399", "coordinates": [ { "allele": "T", "end": 1884, "referenceAllele": "G", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.2:c.295G>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Glu99Ter", "hgvsWellDefined": "NP_700475.1:p.Glu99_Val317delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042385" }, { "@id": "http://reg.genome.network/allele/PA2830327944", "coordinates": [ { "allele": "T", "end": 1746, "referenceAllele": "G", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.2:c.157G>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Glu53Ter", "hgvsWellDefined": "NP_700476.1:p.Glu53_Val271delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042386" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "G", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_006714235.2:c.295G>T" ], "proteinEffect": { "hgvs": "XP_006714298.1:p.Glu99Ter", "hgvsWellDefined": "XP_006714298.1:p.Glu99_Val317delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070560" }, { "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_011532027.1:c.157G>T" ], "proteinEffect": { "hgvs": "XP_011530329.1:p.Glu53Ter", "hgvsWellDefined": "XP_011530329.1:p.Glu53_Val271delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099055" }, { "coordinates": [ { "allele": "T", "end": 681, "referenceAllele": "G", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_024454090.1:c.-39G>T" ], "proteinEffect": { "hgvs": "XP_024309858.1:n.-39G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS587460" }, { "@id": "http://reg.genome.network/allele/PA2825123326", "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "G", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.6:c.316G>T" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Glu106Ter", "hgvsWellDefined": "NP_000316.2:p.Glu106_Val324delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.316G>T" }, "RefSeq": { "hgvs": "NM_000325.6:c.316G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Glu106Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Glu106Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826271544", "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "G", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.2:c.295G>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Glu99Ter", "hgvsWellDefined": "NP_001191326.1:p.Glu99_Val317delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781738" }, { "@id": "http://reg.genome.network/allele/PA2573305399", "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.3:c.295G>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Glu99Ter", "hgvsWellDefined": "NP_700475.1:p.Glu99_Val317delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784313" }, { "@id": "http://reg.genome.network/allele/PA2830327944", "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.3:c.157G>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Glu53Ter", "hgvsWellDefined": "NP_700476.1:p.Glu53_Val271delinsLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784314" } ], "type": "nucleotide" }