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"NP_000316.2:p.Gln75_Val324delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006388" }, { "@id": "http://reg.genome.network/allele/PA2826271529", "coordinates": [ { "allele": "T", "end": 2022, "referenceAllele": "C", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.1:c.199C>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Gln67Ter", "hgvsWellDefined": "NP_001191326.1:p.Gln68_Val317delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017634" }, { "@id": "http://reg.genome.network/allele/PA2826271604", "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204398.1:c.199C>T" ], "proteinEffect": { "hgvs": "NP_001191327.1:p.Gln67Ter", "hgvsWellDefined": "NP_001191327.1:p.Gln68_Val317delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017635" }, { "@id": "http://reg.genome.network/allele/PA2826271687", "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "C", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204399.1:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001191328.1:p.Gln21Ter", "hgvsWellDefined": "NP_001191328.1:p.Gln22_Val271delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017636" }, { "@id": "http://reg.genome.network/allele/PA2830327667", "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.2:c.199C>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Gln67Ter", "hgvsWellDefined": "NP_700475.1:p.Gln68_Val317delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042385" }, { "@id": "http://reg.genome.network/allele/PA2830327910", "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.2:c.61C>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Gln21Ter", "hgvsWellDefined": "NP_700476.1:p.Gln22_Val271delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042386" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_006714235.2:c.199C>T" ], "proteinEffect": { "hgvs": "XP_006714298.1:p.Gln67Ter", "hgvsWellDefined": "XP_006714298.1:p.Gln68_Val317delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070560" }, { "coordinates": [ { "allele": "T", "end": 1502, "referenceAllele": "C", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_011532027.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_011530329.1:p.Gln21Ter", "hgvsWellDefined": "XP_011530329.1:p.Gln22_Val271delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099055" }, { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_024454090.1:c.-135C>T" ], "proteinEffect": { "hgvs": "XP_024309858.1:n.-135C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS587460" }, { "@id": "http://reg.genome.network/allele/PA2580114219", "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.6:c.220C>T" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Gln74Ter", "hgvsWellDefined": "NP_000316.2:p.Gln75_Val324delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.220C>T" }, "RefSeq": { "hgvs": "NM_000325.6:c.220C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Gln74Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Gln74Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826271529", "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.2:c.199C>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Gln67Ter", "hgvsWellDefined": "NP_001191326.1:p.Gln68_Val317delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781738" }, { "@id": "http://reg.genome.network/allele/PA2830327667", "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.3:c.199C>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Gln67Ter", "hgvsWellDefined": "NP_700475.1:p.Gln68_Val317delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784313" }, { "@id": "http://reg.genome.network/allele/PA2830327910", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.3:c.61C>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Gln21Ter", "hgvsWellDefined": "NP_700476.1:p.Gln22_Val271delinsGlyLysAsnGluAspValGlyAlaGluAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784314" } ], "type": "nucleotide" }