{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA251755", "communityStandardTitle": [ "NM_019032.6(ADAMTSL4):c.1785T>G (p.Tyr595Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16388[alleleid]", "alleleId": 16388, "preferredName": "NM_019032.6(ADAMTSL4):c.1785T>G (p.Tyr595Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1349", "RCV": [ "RCV000001414", "RCV001390397" ], "variationId": 1349 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-150529450-T-G", "id": "1-150529450-T-G", "variant": "1:150529450 T / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.150529450T>G?assembly=hg19", "id": "chr1:g.150529450T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.150556974T>G?assembly=hg38", "id": "chr1:g.150556974T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203985", "rs": 118203985 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-150529450-T-G?dataset=gnomad_r2_1", "id": "1-150529450-T-G", "variant": "1:150529450 T / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-150556974-T-G?dataset=gnomad_r3", "id": "1-150556974-T-G", "variant": "1:150556974 T / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-150556974-T-G?dataset=gnomad_r4", "id": "1-150556974-T-G", "variant": "1:150556974 T / G" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 150556974, "referenceAllele": "T", "start": 150556973 } ], "hgvs": [ "NC_000001.11:g.150556974T>G", "CM000663.2:g.150556974T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 150529450, "referenceAllele": "T", "start": 150529449 } ], "hgvs": [ "NC_000001.10:g.150529450T>G", "CM000663.1:g.150529450T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 148796074, "referenceAllele": "T", "start": 148796073 } ], "hgvs": [ "NC_000001.9:g.148796074T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 12553, "referenceAllele": "T", "start": 12552 } ], "hgvs": [ "NG_012172.1:g.12553T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002255" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2035, "referenceAllele": "T", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000271643.9:c.1785T>G" ], "proteinEffect": { "hgvs": "ENSP00000271643.4:p.Tyr595Ter", "hgvsWellDefined": "ENSP00000271643.4:p.Tyr595_Ser1074delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743206", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000271643.9:c.1785T>G" }, "RefSeq": { "hgvs": "NM_019032.6:c.1785T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000271643.4:p.Tyr595Ter" }, "RefSeq": { "hgvs": "NP_061905.2:p.Tyr595Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1995, "referenceAllele": "T", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000674043.1:c.1854T>G" ], "proteinEffect": { "hgvs": "ENSP00000501295.1:p.Tyr618Ter", "hgvsWellDefined": "ENSP00000501295.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774069" }, { "coordinates": [ { "allele": "G", "end": 1995, "referenceAllele": "T", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000674058.1:c.1854T>G" ], "proteinEffect": { "hgvs": "ENSP00000501255.1:p.Tyr618Ter", "hgvsWellDefined": "ENSP00000501255.1:p.Tyr618_Ser1035delinsGlnThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774082" }, { "coordinates": [ { "allele": "G", "end": 2074, "referenceAllele": "T", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000271643.8:c.1785T>G" ], "proteinEffect": { "hgvs": "ENSP00000271643.4:p.Tyr595Ter", "hgvsWellDefined": "ENSP00000271643.4:p.Tyr595_Ser1074delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252313" }, { "coordinates": [ { "allele": "G", "end": 1986, "referenceAllele": "T", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000369038.6:c.1785T>G" ], "proteinEffect": { "hgvs": "ENSP00000358034.2:p.Tyr595Ter", "hgvsWellDefined": "ENSP00000358034.2:p.Tyr595_Ser1074delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267324" }, { "coordinates": [ { "allele": "G", "end": 2143, "referenceAllele": "T", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000369039.9:c.1854T>G" ], "proteinEffect": { "hgvs": "ENSP00000358035.5:p.Tyr618Ter", "hgvsWellDefined": "ENSP00000358035.5:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267325" }, { "coordinates": [ { "allele": "G", "end": 2035, "referenceAllele": "T", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000369041.9:c.1785T>G" ], "proteinEffect": { "hgvs": "ENSP00000358037.5:p.Tyr595Ter", "hgvsWellDefined": "ENSP00000358037.5:p.Tyr595_Ala877delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysValSerProGluProProAlaIleSerCysIleLeuGlyAsnHisAlaGlnAspThrSerAlaPheProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267327" }, { "coordinates": [ { "allele": "G", "end": 607, "referenceAllele": "T", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "ENST00000622417.4:c.399T>G" ], "proteinEffect": { "hgvs": "ENSP00000477897.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000477897.1:p.Tyr133_Pro435delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405715" }, { "@id": "http://reg.genome.network/allele/PA2826709476", "coordinates": [ { "allele": "G", "end": 2143, "referenceAllele": "T", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_001288607.1:c.1854T>G" ], "proteinEffect": { "hgvs": "NP_001275536.1:p.Tyr618Ter", "hgvsWellDefined": "NP_001275536.1:p.Tyr618_Ser1035delinsGlnThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023493" }, { "@id": "http://reg.genome.network/allele/PA916016992", "coordinates": [ { "allele": "G", "end": 2143, "referenceAllele": "T", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_001288608.1:c.1854T>G" ], "proteinEffect": { "hgvs": "NP_001275537.1:p.Tyr618Ter", "hgvsWellDefined": "NP_001275537.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023494" }, { "@id": "http://reg.genome.network/allele/PA251756", "coordinates": [ { "allele": "G", "end": 2074, "referenceAllele": "T", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_019032.5:c.1785T>G" ], "proteinEffect": { "hgvs": "NP_061905.2:p.Tyr595Ter", "hgvsWellDefined": "NP_061905.2:p.Tyr595_Ser1074delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036033" }, { "@id": "http://reg.genome.network/allele/PA2830049736", "coordinates": [ { "allele": "G", "end": 2074, "referenceAllele": "T", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_025008.4:c.1785T>G" ], "proteinEffect": { "hgvs": "NP_079284.2:p.Tyr595Ter", "hgvsWellDefined": "NP_079284.2:p.Tyr595_Ala877delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysValSerProGluProProAlaIleSerCysIleLeuGlyAsnHisAlaGlnAspThrSerAlaPheProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038159" }, { "coordinates": [ { "allele": "G", "end": 2138, "referenceAllele": "T", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509644.1:c.1953T>G" ], "proteinEffect": { "hgvs": "XP_011507946.1:p.Tyr651Ter", "hgvsWellDefined": "XP_011507946.1:p.Tyr651_Ser1130delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076911" }, { "coordinates": [ { "allele": "G", "end": 2069, "referenceAllele": "T", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509645.1:c.1884T>G" ], "proteinEffect": { "hgvs": "XP_011507947.1:p.Tyr628Ter", "hgvsWellDefined": "XP_011507947.1:p.Tyr628_Ser1107delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076912" }, { "coordinates": [ { "allele": "G", "end": 2266, "referenceAllele": "T", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509646.1:c.1854T>G" ], "proteinEffect": { "hgvs": "XP_011507948.1:p.Tyr618Ter", "hgvsWellDefined": "XP_011507948.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076913" }, { "coordinates": [ { "allele": "G", "end": 2923, "referenceAllele": "T", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509647.1:c.1854T>G" ], "proteinEffect": { "hgvs": "XP_011507949.1:p.Tyr618Ter", "hgvsWellDefined": "XP_011507949.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076914" }, { "coordinates": [ { "allele": "G", "end": 2057, "referenceAllele": "T", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509648.1:c.1854T>G" ], "proteinEffect": { "hgvs": "XP_011507950.1:p.Tyr618Ter", "hgvsWellDefined": "XP_011507950.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076915" }, { "coordinates": [ { "allele": "G", "end": 2138, "referenceAllele": "T", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509649.1:c.1953T>G" ], "proteinEffect": { "hgvs": "XP_011507951.1:p.Tyr651Ter", "hgvsWellDefined": "XP_011507951.1:p.Tyr651_Ile864delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnGlnLysLeuPheThrAsnArgValSerTyrGlyProProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076916" }, { "coordinates": [ { "allele": "G", "end": 2138, "referenceAllele": "T", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509650.1:c.1953T>G" ], "proteinEffect": { "hgvs": "XP_011507952.1:p.Tyr651Ter", "hgvsWellDefined": "XP_011507952.1:p.Tyr651_Ile863delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnLysLeuPheThrAsnArgValSerTyrGlyProProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076917" }, { "coordinates": [ { "allele": "G", "end": 606, "referenceAllele": "T", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509651.1:c.462T>G" ], "proteinEffect": { "hgvs": "XP_011507953.1:p.Tyr154Ter", "hgvsWellDefined": "XP_011507953.1:p.Tyr154_Ser633delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076918" }, { "coordinates": [ { "allele": "G", "end": 561, "referenceAllele": "T", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509652.1:c.462T>G" ], "proteinEffect": { "hgvs": "XP_011507954.1:p.Tyr154Ter", "hgvsWellDefined": "XP_011507954.1:p.Tyr154_Ser633delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076919" }, { "coordinates": [ { "allele": "G", "end": 2138, "referenceAllele": "T", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XR_921844.1:n.2138T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS118978" }, { "coordinates": [ { "allele": "C", "end": 139, "endIntronDirection": "+", "endIntronOffset": 719, "referenceAllele": "A", "start": 139, "startIntronDirection": "+", "startIntronOffset": 718 } ], "gene": "http://reg.genome.network/gene/GN040895", "geneNCBI_id": 100289061, "geneSymbol": "ADAMTSL4-AS2", "hgvs": [ "XR_922133.1:n.139+719A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS119195" }, { "coordinates": [ { "allele": "G", "end": 2104, "referenceAllele": "T", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509644.3:c.1953T>G" ], "proteinEffect": { "hgvs": "XP_011507946.1:p.Tyr651Ter", "hgvsWellDefined": "XP_011507946.1:p.Tyr651_Ser1130delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541350" }, { "coordinates": [ { "allele": "G", "end": 2032, "referenceAllele": "T", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509645.3:c.1884T>G" ], "proteinEffect": { "hgvs": "XP_011507947.1:p.Tyr628Ter", "hgvsWellDefined": "XP_011507947.1:p.Tyr628_Ser1107delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541351" }, { "coordinates": [ { "allele": "G", "end": 2060, "referenceAllele": "T", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509648.3:c.1854T>G" ], "proteinEffect": { "hgvs": "XP_011507950.1:p.Tyr618Ter", "hgvsWellDefined": "XP_011507950.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541352" }, { "coordinates": [ { "allele": "G", "end": 2111, "referenceAllele": "T", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509649.3:c.1953T>G" ], "proteinEffect": { "hgvs": "XP_011507951.1:p.Tyr651Ter", "hgvsWellDefined": "XP_011507951.1:p.Tyr651_Ile864delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnGlnLysLeuPheThrAsnArgValSerTyrGlyProProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541353" }, { "coordinates": [ { "allele": "G", "end": 2111, "referenceAllele": "T", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509650.3:c.1953T>G" ], "proteinEffect": { "hgvs": "XP_011507952.1:p.Tyr651Ter", "hgvsWellDefined": "XP_011507952.1:p.Tyr651_Ile863delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnLysLeuPheThrAsnArgValSerTyrGlyProProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541354" }, { "coordinates": [ { "allele": "G", "end": 855, "referenceAllele": "T", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509651.2:c.462T>G" ], "proteinEffect": { "hgvs": "XP_011507953.1:p.Tyr154Ter", "hgvsWellDefined": "XP_011507953.1:p.Tyr154_Ser633delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541355" }, { "coordinates": [ { "allele": "G", "end": 562, "referenceAllele": "T", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_011509652.2:c.462T>G" ], "proteinEffect": { "hgvs": "XP_011507954.1:p.Tyr154Ter", "hgvsWellDefined": "XP_011507954.1:p.Tyr154_Ser633delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541356" }, { "coordinates": [ { "allele": "G", "end": 2515, "referenceAllele": "T", "start": 2514 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_017001506.2:c.1854T>G" ], "proteinEffect": { "hgvs": "XP_016856995.1:p.Tyr618Ter", "hgvsWellDefined": "XP_016856995.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557666" }, { "coordinates": [ { "allele": "G", "end": 296, "referenceAllele": "T", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XM_017001507.1:c.198T>G" ], "proteinEffect": { "hgvs": "XP_016856996.1:p.Tyr66Ter", "hgvsWellDefined": "XP_016856996.1:p.Tyr66_Ser545delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557667" }, { "coordinates": [ { "allele": "G", "end": 1938, "referenceAllele": "T", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XR_001737242.2:n.1938T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS588035" }, { "coordinates": [ { "allele": "G", "end": 2111, "referenceAllele": "T", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "XR_921844.3:n.2111T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS606870" }, { "@id": "http://reg.genome.network/allele/PA2826709476", "coordinates": [ { "allele": "G", "end": 2104, "referenceAllele": "T", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_001288607.2:c.1854T>G" ], "proteinEffect": { "hgvs": "NP_001275536.1:p.Tyr618Ter", "hgvsWellDefined": "NP_001275536.1:p.Tyr618_Ser1035delinsGlnThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682459" }, { "@id": "http://reg.genome.network/allele/PA2830049736", "coordinates": [ { "allele": "G", "end": 2035, "referenceAllele": "T", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_025008.5:c.1785T>G" ], "proteinEffect": { "hgvs": "NP_079284.2:p.Tyr595Ter", "hgvsWellDefined": "NP_079284.2:p.Tyr595_Ala877delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysValSerProGluProProAlaIleSerCysIleLeuGlyAsnHisAlaGlnAspThrSerAlaPheProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698802" }, { "@id": "http://reg.genome.network/allele/PA916016992", "coordinates": [ { "allele": "G", "end": 2104, "referenceAllele": "T", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_001288608.2:c.1854T>G" ], "proteinEffect": { "hgvs": "NP_001275537.1:p.Tyr618Ter", "hgvsWellDefined": "NP_001275537.1:p.Tyr618_Ser1097delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716454" }, { "@id": "http://reg.genome.network/allele/PA2828792700", "coordinates": [ { "allele": "G", "end": 2413, "referenceAllele": "T", "start": 2412 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_001378596.1:c.1785T>G" ], "proteinEffect": { "hgvs": "NP_001365525.1:p.Tyr595Ter", "hgvsWellDefined": "NP_001365525.1:p.Tyr595_Ser1074delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721799" }, { "@id": "http://reg.genome.network/allele/PA251756", "coordinates": [ { "allele": "G", "end": 2035, "referenceAllele": "T", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN019706", "geneNCBI_id": 54507, "geneSymbol": "ADAMTSL4", "hgvs": [ "NM_019032.6:c.1785T>G" ], "proteinEffect": { "hgvs": "NP_061905.2:p.Tyr595Ter", "hgvsWellDefined": "NP_061905.2:p.Tyr595_Ser1074delinsGlnTyrValIleSerSerProProProIleLeuGluAsnProThrProGluProProValProGlnLeuGlnProGluIleLeuArgValGluProProLeuAlaProAlaProArgProAlaArgThrProGlyThrLeuGlnArgGlnValArgIleProGlnMetProAlaProProHisProArgThrProLeuGlySerProAlaAlaTyrTrpLysArgValGlyHisSerAlaCysSerAlaSerCysGlyLysGlyValTrpArgProIlePheLeuCysIleSerArgGluSerGlyGluGluLeuAspGluArgSerCysAlaAlaGlyAlaArgProProAlaSerProGluProCysHisGlyThrProCysProProTyrTrpGluAlaGlyGluTrpThrSerCysSerArgSerCysGlyProGlyThrGlnHisArgGlnLeuGlnCysArgGlnGluPheGlyGlyGlyGlySerSerValProProGluArgCysGlyHisLeuProArgProAsnIleThrGlnSerCysGlnLeuArgLeuCysGlyHisTrpGluValGlySerProTrpSerGlnCysSerValArgCysGlyArgGlyGlnArgSerArgGlnValArgCysValGlyAsnAsnGlyAspGluValSerGluGlnGluCysAlaSerGlyProProGlnProProSerArgGluAlaCysAspMetGlyProCysThrThrAlaTrpPheHisSerAspTrpSerSerLysCysSerAlaGluCysGlyThrGlyIleGlnArgArgSerValValCysLeuGlySerGlyAlaAlaLeuGlyProGlyGlnGlyGluAlaGlyAlaGlyThrGlyGlnSerCysProThrGlySerArgProProAspMetArgAlaCysSerLeuGlyProCysGluArgThrTrpArgTrpTyrThrGlyProTrpGlyGluCysSerSerGluCysGlySerGlyThrGlnArgArgAspIleIleCysValSerLysLeuGlyThrGluPheAsnValThrSerProSerAsnCysSerHisLeuProArgProProAlaLeuGlnProCysGlnGlyGlnAlaCysGlnAspArgTrpPheSerThrProTrpSerProCysSerArgSerCysGlnGlyGlyThrGlnThrArgGluValGlnCysLeuSerThrAsnGlnThrLeuSerThrArgCysProProGlnLeuArgProSerArgLysArgProCysAsnSerGlnProCysSerGlnArgProAspAspGlnCysLysAspSerSerProHisCysProLeuValValGlnAlaArgLeuCysValTyrProTyrTyrThrAlaThrCysCysArgSerCysAlaHisValLeuGluArgSerProGlnAspProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728384", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000271643.9:c.1785T>G" }, "RefSeq": { "hgvs": "NM_019032.6:c.1785T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000271643.4:p.Tyr595Ter" }, "RefSeq": { "hgvs": "NP_061905.2:p.Tyr595Ter" } } } } ], "type": "nucleotide" }