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"NP_000316.2:p.Lys70_Val324delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006388" }, { "@id": "http://reg.genome.network/allele/PA2826271527", "coordinates": [ { "allele": "T", "end": 2010, "referenceAllele": "A", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.1:c.187A>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Lys63Ter", "hgvsWellDefined": "NP_001191326.1:p.Lys63_Val317delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017634" }, { "@id": "http://reg.genome.network/allele/PA2826271602", "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "A", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204398.1:c.187A>T" ], "proteinEffect": { "hgvs": "NP_001191327.1:p.Lys63Ter", "hgvsWellDefined": "NP_001191327.1:p.Lys63_Val317delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017635" }, { "@id": "http://reg.genome.network/allele/PA2826271685", "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "A", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204399.1:c.49A>T" ], "proteinEffect": { "hgvs": "NP_001191328.1:p.Lys17Ter", "hgvsWellDefined": "NP_001191328.1:p.Lys17_Val271delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017636" }, { "@id": "http://reg.genome.network/allele/PA2830327662", "coordinates": [ { "allele": "T", "end": 1776, "referenceAllele": "A", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.2:c.187A>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Lys63Ter", "hgvsWellDefined": "NP_700475.1:p.Lys63_Val317delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042385" }, { "@id": "http://reg.genome.network/allele/PA2830327904", "coordinates": [ { "allele": "T", "end": 1638, "referenceAllele": "A", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.2:c.49A>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Lys17Ter", "hgvsWellDefined": "NP_700476.1:p.Lys17_Val271delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042386" }, { "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "A", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_006714235.2:c.187A>T" ], "proteinEffect": { "hgvs": "XP_006714298.1:p.Lys63Ter", "hgvsWellDefined": "XP_006714298.1:p.Lys63_Val317delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070560" }, { "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "A", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_011532027.1:c.49A>T" ], "proteinEffect": { "hgvs": "XP_011530329.1:p.Lys17Ter", "hgvsWellDefined": "XP_011530329.1:p.Lys17_Val271delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099055" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "A", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_024454090.1:c.-147A>T" ], "proteinEffect": { "hgvs": "XP_024309858.1:n.-147A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS587460" }, { "@id": "http://reg.genome.network/allele/PA2573062245", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "A", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.6:c.208A>T" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Lys70Ter", "hgvsWellDefined": "NP_000316.2:p.Lys70_Val324delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.208A>T" }, "RefSeq": { "hgvs": "NM_000325.6:c.208A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Lys70Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Lys70Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826271527", "coordinates": [ { "allele": "T", "end": 662, "referenceAllele": "A", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.2:c.187A>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Lys63Ter", "hgvsWellDefined": "NP_001191326.1:p.Lys63_Val317delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781738" }, { "@id": "http://reg.genome.network/allele/PA2830327662", "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "A", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.3:c.187A>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Lys63Ter", "hgvsWellDefined": "NP_700475.1:p.Lys63_Val317delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784313" }, { "@id": "http://reg.genome.network/allele/PA2830327904", "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "A", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.3:c.49A>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Lys17Ter", "hgvsWellDefined": "NP_700476.1:p.Lys17_Val271delinsAspLysSerGlnGlnGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784314" } ], "type": "nucleotide" }