{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350837253", "communityStandardTitle": [ "NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=952954[alleleid]", "alleleId": 952954, "preferredName": "NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/966572", "RCV": [ "RCV001241289", "RCV001250157", "RCV001835097", "RCV002499402" ], "variationId": 966572 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227895199G>C?assembly=hg19", "id": "chr2:g.227895199G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227030483G>C?assembly=hg38", "id": "chr2:g.227030483G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1433065763", "rs": 1433065763 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-227895199-G-C?dataset=gnomad_r2_1", "id": "2-227895199-G-C", "variant": "2:227895199 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-227030483-G-C?dataset=gnomad_r4", "id": "2-227030483-G-C", "variant": "2:227030483 G / C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 227030483, "referenceAllele": "G", "start": 227030482 } ], "hgvs": [ "NC_000002.12:g.227030483G>C", "CM000664.2:g.227030483G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 227895199, "referenceAllele": "G", "start": 227895198 } ], "hgvs": [ "NC_000002.11:g.227895199G>C", "CM000664.1:g.227895199G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 227603443, "referenceAllele": "G", "start": 227603442 } ], "hgvs": [ "NC_000002.10:g.227603443G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 139077, "referenceAllele": "C", "start": 139076 } ], "hgvs": [ "NG_011592.1:g.139077C>G", "LRG_231:g.139077C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001840" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4233, "referenceAllele": "C", "start": 4232 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.5:c.3933C>G" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Tyr1311Ter", "hgvsWellDefined": "ENSP00000379866.3:p.Tyr1311_Ser1690delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.3933C>G" }, "RefSeq": { "hgvs": "NM_000092.5:c.3933C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Tyr1311Ter" }, "RefSeq": { "hgvs": "NP_000083.3:p.Tyr1311Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 4141, "referenceAllele": "C", "start": 4140 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.3:c.3933C>G" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Tyr1311Ter", "hgvsWellDefined": "ENSP00000379866.3:p.Tyr1311_Ser1690delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277360" }, { "@id": "http://reg.genome.network/allele/PA1139697615", "coordinates": [ { "allele": "G", "end": 4587, "referenceAllele": "C", "start": 4586 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.4:c.3933C>G", "LRG_231t1:c.3933C>G" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Tyr1311Ter", "hgvsWellDefined": "NP_000083.3:p.Tyr1311_Ser1690delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006156" }, { "coordinates": [ { "allele": "G", "end": 4118, "referenceAllele": "C", "start": 4117 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_005246338.1:p.Tyr1311_Ser1690delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057551" }, { "coordinates": [ { "allele": "G", "end": 3688, "referenceAllele": "C", "start": 3687 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.2:c.3378C>G" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Tyr1126Ter", "hgvsWellDefined": "XP_005246339.1:p.Tyr1126_Ser1505delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057552" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_006712309.1:p.Tyr1311_Ser1627delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069541" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712249.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_006712312.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_006712312.1:p.Tyr1311_Val1611delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValValSerAlaSerArgTyrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069542" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712251.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_006712314.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_006712314.1:p.Tyr1311_Ser1445delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyThrGlnGluLeuGluAlaGluLeuAsnPheValProLeuValPheLeuValValProGlnAsnGlnGluValLysCysProArgAspValProLeuAsnArgSerGlnThrArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069543" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712252.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_006712315.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_006712315.1:p.Tyr1311_Asn1420delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069544" }, { "coordinates": [ { "allele": "G", "end": 4162, "referenceAllele": "C", "start": 4161 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.1:c.3852C>G" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Tyr1284Ter", "hgvsWellDefined": "XP_011508859.1:p.Tyr1284_Ser1663delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077820" }, { "coordinates": [ { "allele": "G", "end": 4135, "referenceAllele": "C", "start": 4134 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.1:c.3825C>G" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Tyr1275Ter", "hgvsWellDefined": "XP_011508860.1:p.Tyr1275_Ser1654delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077821" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510559.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508861.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508861.1:p.Tyr1311_Leu1612delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077822" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510560.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508862.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508862.1:p.Tyr1311_Leu1612delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077823" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Tyr1311Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS077824" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510562.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508864.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508864.1:p.Tyr1311_Phe1608delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetLeuMetGlyValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077825" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510563.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508865.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508865.1:p.Tyr1311_Leu1470delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyValProLeuCysProGluLysArgGlnIleLeuLeuAlaGlyGlnArgCysAlaProProHisAspAlaThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077826" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510564.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508866.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508866.1:p.Tyr1311_Leu1431delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyValProLeuCysProGluLysArgGlnIleLeuLeuAlaGlyGlnArgCysAlaProProHisAspAlaThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077827" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510565.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508867.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508867.1:p.Tyr1311_Pro1424delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyGluCysLeuSerLeuCysLeuMetLeuHisThrCysCysLeuSerSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077828" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510566.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508868.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508868.1:p.Tyr1311_Asn1420delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077829" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510567.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508869.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508869.1:p.Tyr1311_Asn1420delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077830" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510568.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508870.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508870.1:p.Tyr1311_Ile1419delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyAlaAlaAlaAlaAlaAlaGlyProValThrThrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077831" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510569.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508871.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508871.1:p.Tyr1311_Lys1414delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077832" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510570.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508872.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508872.1:p.Tyr1311_Lys1414delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077833" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510571.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508873.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508873.1:p.Tyr1311_Lys1414delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077834" }, { "coordinates": [ { "allele": "G", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510572.1:c.2259C>G" ], "proteinEffect": { "hgvs": "XP_011508874.1:p.Tyr753Ter", "hgvsWellDefined": "XP_011508874.1:p.Tyr753_Ser1132delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077835" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922837.1:n.4243C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS119899" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922838.1:n.4243C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS119900" }, { "coordinates": [ { "allele": "G", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922839.1:n.4243C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS119901" }, { "coordinates": [ { "allele": "G", "end": 4243, 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"XP_005246338.1:p.Tyr1311_Ser1690delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532576" }, { "coordinates": [ { "allele": "G", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.3:c.3378C>G" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Tyr1126Ter", "hgvsWellDefined": "XP_005246339.1:p.Tyr1126_Ser1505delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532577" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.3:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_006712309.1:p.Tyr1311_Ser1627delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538214" }, { "coordinates": [ { "allele": "G", "end": 4178, "referenceAllele": "C", "start": 4177 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.2:c.3852C>G" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Tyr1284Ter", "hgvsWellDefined": "XP_011508859.1:p.Tyr1284_Ser1663delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541766" }, { "coordinates": [ { "allele": "G", "end": 4151, "referenceAllele": "C", "start": 4150 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.2:c.3825C>G" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Tyr1275Ter", "hgvsWellDefined": "XP_011508860.1:p.Tyr1275_Ser1654delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541767" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510559.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508861.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508861.1:p.Tyr1311_Leu1612delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541768" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510560.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508862.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508862.1:p.Tyr1311_Leu1612delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541769" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508863.1:p.Tyr1311_Phe1608delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetLeuMetGlyValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541770" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510562.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508864.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508864.1:p.Tyr1311_Phe1608delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetLeuMetGlyValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541771" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510565.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508867.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508867.1:p.Tyr1311_Pro1424delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyGluCysLeuSerLeuCysLeuMetLeuHisThrCysCysLeuSerSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541772" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510566.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508868.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508868.1:p.Tyr1311_Asn1420delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541773" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510567.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508869.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508869.1:p.Tyr1311_Asn1420delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541774" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510568.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508870.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508870.1:p.Tyr1311_Ile1419delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyAlaAlaAlaAlaAlaAlaGlyProValThrThrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541775" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510569.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508871.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508871.1:p.Tyr1311_Lys1414delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541776" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510570.2:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_011508872.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_011508872.1:p.Tyr1311_Lys1414delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541777" }, { "coordinates": [ { "allele": "G", "end": 2487, "referenceAllele": "C", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510572.3:c.2259C>G" ], "proteinEffect": { "hgvs": "XP_011508874.1:p.Tyr753Ter", "hgvsWellDefined": "XP_011508874.1:p.Tyr753_Ser1132delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541778" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003296.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_016858785.1:p.Tyr1311Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559067" }, { "coordinates": [ { "allele": "G", "end": 4142, "referenceAllele": "C", "start": 4141 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003297.1:c.3816C>G" ], "proteinEffect": { "hgvs": "XP_016858786.1:p.Tyr1272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559068" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003298.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_016858787.1:p.Tyr1311Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS559069" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003299.1:c.3933C>G" ], "proteinEffect": { "hgvs": "XP_016858788.1:p.Tyr1311Ter", "hgvsWellDefined": "XP_016858788.1:p.Tyr1311_Ala1518delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyMetAspThrGlySerProIleSerIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559070" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003300.1:c.3933C>G" ], "proteinEffect": { "hgvs": 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"referenceSequence": "http://reg.genome.network/refseq/RS589092" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738604.1:n.4259C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS589093" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738606.1:n.4259C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS589094" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738607.1:n.4259C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS589095" }, { "coordinates": [ { "allele": "G", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922837.2:n.4259C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS607167" }, { "@id": "http://reg.genome.network/allele/PA1139697615", "coordinates": [ { "allele": "G", "end": 4233, "referenceAllele": "C", "start": 4232 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.5:c.3933C>G" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Tyr1311Ter", "hgvsWellDefined": "NP_000083.3:p.Tyr1311_Ser1690delinsLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.3933C>G" }, "RefSeq": { "hgvs": "NM_000092.5:c.3933C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Tyr1311Ter" }, "RefSeq": { "hgvs": "NP_000083.3:p.Tyr1311Ter" } } } } ], "type": "nucleotide" }