{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338127080", "communityStandardTitle": [ "NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861327[alleleid]", "alleleId": 861327, "preferredName": "NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873314", "RCV": [ "RCV001095532" ], "variationId": 873314 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.6530920G>A?assembly=hg19", "id": "chr1:g.6530920G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.6470860G>A?assembly=hg38", "id": "chr1:g.6470860G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1435710212", "rs": 1435710212 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-6530920-G-A?dataset=gnomad_r2_1", "id": "1-6530920-G-A", "variant": "1:6530920 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-6470860-G-A?dataset=gnomad_r4", "id": "1-6470860-G-A", "variant": "1:6470860 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 6470860, "referenceAllele": "G", "start": 6470859 } ], "hgvs": [ "NC_000001.11:g.6470860G>A", "CM000663.2:g.6470860G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 6530920, "referenceAllele": "G", "start": 6530919 } ], "hgvs": [ "NC_000001.10:g.6530920G>A", "CM000663.1:g.6530920G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 6453507, "referenceAllele": "G", "start": 6453506 } ], "hgvs": [ "NC_000001.9:g.6453507G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 54150, "referenceAllele": "C", "start": 54149 } ], "hgvs": [ "NG_007978.1:g.54150C>T", "LRG_262:g.54150C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000746" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "hgvs": [ "NG_029910.1:g.336C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004773" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000340850.10:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000344570.5:p.Gln473Ter", "hgvsWellDefined": "ENSP00000344570.5:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747937" }, { "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377728.8:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000366957.3:p.Gln473Ter", "hgvsWellDefined": "ENSP00000366957.3:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751960", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377728.8:c.1417C>T" }, "RefSeq": { "hgvs": "NM_020631.6:c.1417C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366957.3:p.Gln473Ter" }, "RefSeq": { "hgvs": "NP_065682.2:p.Gln473Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377740.5:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000366969.4:p.Gln473Ter", "hgvsWellDefined": "ENSP00000366969.4:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751962" }, { "coordinates": [ { "allele": "T", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377748.6:c.1591C>T" ], "proteinEffect": { "hgvs": "ENSP00000366977.2:p.Gln531Ter", "hgvsWellDefined": "ENSP00000366977.2:p.Gln531_Val1064delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751964" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000400913.6:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000383704.1:p.Gln473Ter", "hgvsWellDefined": "ENSP00000383704.1:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753948" }, { "coordinates": [ { "allele": "T", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000400915.8:c.1528C>T" ], "proteinEffect": { "hgvs": "ENSP00000383706.4:p.Gln510Ter", "hgvsWellDefined": "ENSP00000383706.4:p.Gln510_Val1043delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753949" }, { "coordinates": [ { "allele": "T", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000489097.6:n.1893C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757605" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000535355.6:c.1624C>T" ], "proteinEffect": { "hgvs": "ENSP00000441445.1:p.Gln542Ter", "hgvsWellDefined": "ENSP00000441445.1:p.Gln542_Val1075delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759439" }, { "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000537245.6:c.1528C>T" ], "proteinEffect": { "hgvs": "ENSP00000439625.2:p.Gln510Ter", "hgvsWellDefined": "ENSP00000439625.2:p.Gln510_Val1043delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759522" }, { "coordinates": [ { "allele": "T", "end": 1714, "referenceAllele": "C", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000673471.2:c.1714C>T" ], "proteinEffect": { "hgvs": "ENSP00000500749.1:p.Gln572Ter", "hgvsWellDefined": "ENSP00000500749.1:p.Gln572_Val1105delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773695" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000674685.1:n.450C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774618" }, { "coordinates": [ { "allele": "T", "end": 1841, "referenceAllele": "C", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000674790.1:c.*1629C>T" ], "proteinEffect": { "hgvs": "ENSP00000502815.1:n.*1629C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774704" }, { "coordinates": [ { "allele": "T", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000674943.1:n.79C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774827" }, { "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000675123.1:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000502132.1:p.Gln473Ter", "hgvsWellDefined": "ENSP00000502132.1:p.Gln473_Val775delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisTrpLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774989" }, { "coordinates": [ { "allele": "T", "end": 1655, "referenceAllele": "C", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000675548.1:c.*1245C>T" ], "proteinEffect": { "hgvs": "ENSP00000502684.1:n.*1245C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775350" }, { "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "C", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000675694.1:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000501925.1:p.Gln473Ter", "hgvsWellDefined": "ENSP00000501925.1:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775480" }, { "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000340850.9:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000344570.5:p.Gln473Ter", "hgvsWellDefined": "ENSP00000344570.5:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261188" }, { "coordinates": [ { "allele": "T", "end": 1630, "referenceAllele": "C", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377725.5:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000366954.1:p.Gln473Ter", "hgvsWellDefined": "ENSP00000366954.1:p.Gln473_Ala930delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProAlaGlnGluAlaAspProGlyProAlaLeuProAsnGlnAspHisProAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271707" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377728.7:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000366957.3:p.Gln473Ter", "hgvsWellDefined": "ENSP00000366957.3:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271710" }, { "coordinates": [ { "allele": "T", "end": 1708, "referenceAllele": "C", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377732.5:c.1528C>T" ], "proteinEffect": { "hgvs": "ENSP00000366961.1:p.Gln510Ter", "hgvsWellDefined": "ENSP00000366961.1:p.Gln510_Val1043delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271711" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377740.4:c.1648C>T" ], "proteinEffect": { "hgvs": "ENSP00000366969.3:p.Gln550Ter", "hgvsWellDefined": "ENSP00000366969.3:p.Gln550_Val852delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisTrpLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271714" }, { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000377748.5:c.1648C>T" ], "proteinEffect": { "hgvs": "ENSP00000366977.1:p.Gln550Ter", "hgvsWellDefined": "ENSP00000366977.1:p.Gln550_Val1083delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271718" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000400913.5:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000383704.1:p.Gln473Ter", "hgvsWellDefined": "ENSP00000383704.1:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279149" }, { "coordinates": [ { "allele": "T", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000400915.7:c.1585C>T" ], "proteinEffect": { "hgvs": "ENSP00000383706.3:p.Gln529Ter", "hgvsWellDefined": "ENSP00000383706.3:p.Gln529_Val1062delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279150" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000487949.4:n.619C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326383" }, { "coordinates": [ { "allele": "T", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000489097.5:n.1893C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327229" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000535355.5:c.1624C>T" ], "proteinEffect": { "hgvs": "ENSP00000441445.1:p.Gln542Ter", "hgvsWellDefined": "ENSP00000441445.1:p.Gln542_Val1075delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359684" }, { "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "ENST00000537245.5:c.1654C>T" ], "proteinEffect": { "hgvs": "ENSP00000439625.1:p.Gln552Ter", "hgvsWellDefined": "ENSP00000439625.1:p.Gln552_Val1085delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360675" }, { "coordinates": [ { "allele": "T", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001042663.1:c.1585C>T" ], "proteinEffect": { "hgvs": "NP_001036128.1:p.Gln529Ter", "hgvsWellDefined": "NP_001036128.1:p.Gln529_Val1062delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009788" }, { "@id": "http://reg.genome.network/allele/PA2825416432", "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001042664.1:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_001036129.1:p.Gln473Ter", "hgvsWellDefined": "NP_001036129.1:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009789" }, { "@id": "http://reg.genome.network/allele/PA2825417280", "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "C", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001042665.1:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_001036130.1:p.Gln473Ter", "hgvsWellDefined": "NP_001036130.1:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009790" }, { "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001265592.1:c.1654C>T" ], "proteinEffect": { "hgvs": "NP_001252521.1:p.Gln552Ter", "hgvsWellDefined": "NP_001252521.1:p.Gln552_Val1085delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020049" }, { "@id": "http://reg.genome.network/allele/PA2826486048", "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001265593.1:c.1624C>T" ], "proteinEffect": { "hgvs": "NP_001252522.1:p.Gln542Ter", "hgvsWellDefined": "NP_001252522.1:p.Gln542_Val1075delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020050" }, { "@id": "http://reg.genome.network/allele/PA2826486682", "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001265594.1:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_001252523.1:p.Gln473Ter", "hgvsWellDefined": "NP_001252523.1:p.Gln473_Ala930delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProAlaGlnGluAlaAspProGlyProAlaLeuProAsnGlnAspHisProAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020051" }, { "@id": "http://reg.genome.network/allele/PA2829943388", "coordinates": [ { "allele": "T", "end": 1569, "referenceAllele": "C", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_020631.4:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_065682.2:p.Gln473Ter", "hgvsWellDefined": "NP_065682.2:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036457" }, { "@id": "http://reg.genome.network/allele/PA1139767745", "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_198681.3:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_941374.2:p.Gln550Ter", "hgvsWellDefined": "NP_941374.2:p.Gln550_Val1083delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044687" }, { "coordinates": [ { "allele": "T", "end": 1706, "referenceAllele": "C", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001042663.2:c.1585C>T" ], "proteinEffect": { "hgvs": "NP_001036128.1:p.Gln529Ter", "hgvsWellDefined": "NP_001036128.1:p.Gln529_Val1062delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676074" }, { "@id": "http://reg.genome.network/allele/PA2826486682", "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001265594.2:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_001252523.1:p.Gln473Ter", "hgvsWellDefined": "NP_001252523.1:p.Gln473_Ala930delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProAlaGlnGluAlaAspProGlyProAlaLeuProAsnGlnAspHisProAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680919" }, { "@id": "http://reg.genome.network/allele/PA2829943388", "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_020631.5:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_065682.2:p.Gln473Ter", "hgvsWellDefined": "NP_065682.2:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698255" }, { "@id": "http://reg.genome.network/allele/PA2825415584", "coordinates": [ { "allele": "T", "end": 1674, "referenceAllele": "C", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001042663.3:c.1528C>T" ], "proteinEffect": { "hgvs": "NP_001036128.2:p.Gln510Ter", "hgvsWellDefined": "NP_001036128.2:p.Gln510_Val1043delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711720" }, { "@id": "http://reg.genome.network/allele/PA2826485431", "coordinates": [ { "allele": "T", "end": 1854, "referenceAllele": "C", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_001265592.2:c.1528C>T" ], "proteinEffect": { "hgvs": "NP_001252521.2:p.Gln510Ter", "hgvsWellDefined": "NP_001252521.2:p.Gln510_Val1043delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715051" }, { "@id": "http://reg.genome.network/allele/PA2829943388", "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_020631.6:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_065682.2:p.Gln473Ter", "hgvsWellDefined": "NP_065682.2:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377728.8:c.1417C>T" }, "RefSeq": { "hgvs": "NM_020631.6:c.1417C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366957.3:p.Gln473Ter" }, "RefSeq": { "hgvs": "NP_065682.2:p.Gln473Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830457788", "coordinates": [ { "allele": "T", "end": 2229, "referenceAllele": "C", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN029105", "geneNCBI_id": 57449, "geneSymbol": "PLEKHG5", "hgvs": [ "NM_198681.4:c.1417C>T" ], "proteinEffect": { "hgvs": "NP_941374.3:p.Gln473Ter", "hgvsWellDefined": "NP_941374.3:p.Gln473_Val1006delinsArgLeuLysLeuSerAspMetLeuAlaLysProHisGlnArgLeuThrLysTyrProLeuLeuLeuLysSerValLeuArgLysThrGluGluProArgAlaLysGluAlaValValAlaMetIleGlySerValGluArgPheIleHisHisValAsnAlaCysMetArgGlnArgGlnGluArgGlnArgLeuAlaAlaValValSerArgIleAspAlaTyrGluValValGluSerSerSerAspGluValAspLysLeuLeuLysGluPheLeuHisLeuAspLeuThrAlaProIleProGlyAlaSerProGluGluThrArgGlnLeuLeuLeuGluGlySerLeuArgMetLysGluGlyLysAspSerLysMetAspValTyrCysPheLeuPheThrAspLeuLeuLeuValThrLysAlaValLysLysAlaGluArgThrArgValIleArgProProLeuLeuValAspLysIleValCysArgGluLeuArgAspProGlySerPheLeuLeuIleTyrLeuAsnGluPheHisSerAlaValGlyAlaTyrThrPheGlnAlaSerGlyGlnAlaLeuCysArgGlyTrpValAspThrIleTyrAsnAlaGlnAsnGlnLeuGlnGlnLeuArgAlaGlnGluProProGlySerGlnGlnProLeuGlnSerLeuGluGluGluGluAspGluGlnGluGluGluGluGluGluGluGluGluGluGluGluGlyGluAspSerGlyThrSerAlaAlaSerSerProThrIleMetArgLysSerSerGlySerProAspSerGlnHisCysAlaSerAspGlySerThrGluThrLeuAlaMetValValValGluProGlyAspThrLeuSerSerProGluPheAspSerGlyProPheSerSerGlnSerAspGluThrSerLeuSerThrThrAlaSerSerAlaThrProThrSerGluLeuLeuProLeuGlyProValAspGlyArgSerCysSerMetAspSerAlaTyrGlyThrLeuSerProThrSerLeuGlnAspPheValAlaProGlyProMetAlaGluLeuValProArgAlaProGluSerProArgValProSerProProProSerProArgLeuArgArgArgThrProValGlnLeuLeuSerCysProProHisLeuLeuLysSerLysSerGluAlaSerLeuLeuGlnLeuLeuAlaGlyAlaGlyThrHisGlyThrProSerAlaProSerArgSerLeuSerGluLeuCysLeuAlaValProAlaProGlyIleArgThrGlnGlySerProGlnGluAlaGlyProSerTrpAspCysArgGlyAlaProSerProGlySerGlyProGlyLeuValGlyCysLeuAlaGlyGluProAlaGlySerHisArgLysArgCysGlyAspLeuProSerGlyAlaSerProArgValGlnProGluProProProGlyValSerAlaGlnHisArgLysLeuThrLeuAlaGlnLeuTyrArgIleArgThrThrLeuLeuLeuAsnSerThrLeuThrAlaSerGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729924" } ], "type": "nucleotide" }