{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA364594162", "communityStandardTitle": [ "NM_001281747.2(MLIP):c.628C>T (p.Gln210Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1858609[alleleid]", "alleleId": 1858609, "preferredName": "NM_001281747.2(MLIP):c.628C>T (p.Gln210Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1801322", "RCV": [ "RCV002463383" ], "variationId": 1801322 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.53989646C>T?assembly=hg19", "id": "chr6:g.53989646C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.54124848C>T?assembly=hg38", "id": "chr6:g.54124848C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2481647144", "rs": 2481647144 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-54124848-C-T?dataset=gnomad_r4", "id": "6-54124848-C-T", "variant": "6:54124848 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 54124848, "referenceAllele": "C", "start": 54124847 } ], "hgvs": [ "NC_000006.12:g.54124848C>T", "CM000668.2:g.54124848C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 53989646, "referenceAllele": "C", "start": 53989645 } ], "hgvs": [ "NC_000006.11:g.53989646C>T", "CM000668.1:g.53989646C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 54097605, "referenceAllele": "C", "start": 54097604 } ], "hgvs": [ "NC_000006.10:g.54097605C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000502396.6:c.628C>T" ], "proteinEffect": { "hgvs": "ENSP00000426290.1:p.Gln210Ter", "hgvsWellDefined": "ENSP00000426290.1:p.Gln211_Gln993delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757936", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000502396.6:c.628C>T" }, "RefSeq": { "hgvs": "NM_001281747.2:c.628C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426290.1:p.Gln210Ter" }, "RefSeq": { "hgvs": "NP_001268676.1:p.Gln210Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000274897.9:c.595C>T" ], "proteinEffect": { "hgvs": "ENSP00000274897.5:p.Gln199Ter", "hgvsWellDefined": "ENSP00000274897.5:p.Gln200_Gln458delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252586" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000370876.6:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000359913.2:p.Gln137Ter", "hgvsWellDefined": "ENSP00000359913.2:p.Gln138_Gln234delinsLysHisGlyGlnThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268299" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000370877.6:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000359914.2:p.Gln147Ter", "hgvsWellDefined": "ENSP00000359914.2:p.Gln148_Gln268delinsLysHisGlyGlnAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268300" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000447836.6:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000411917.2:p.Gln81Ter", "hgvsWellDefined": "ENSP00000411917.2:p.Gln81_Glu196del" }, "referenceSequence": "http://reg.genome.network/refseq/RS299448" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000502396.5:c.628C>T" ], "proteinEffect": { "hgvs": "ENSP00000426290.1:p.Gln210Ter", "hgvsWellDefined": "ENSP00000426290.1:p.Gln211_Gln993delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334971" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000503951.5:c.472C>T" ], "proteinEffect": { "hgvs": "ENSP00000426830.1:p.Gln158Ter", "hgvsWellDefined": "ENSP00000426830.1:p.Gln158Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS336149" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000509997.5:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000427584.1:p.Gln147Ter", "hgvsWellDefined": "ENSP00000427584.1:p.Gln148_Gln226delinsLysHisGlyGlnThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340627" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000511678.5:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000427057.1:p.Gln81Ter", "hgvsWellDefined": "ENSP00000427057.1:p.Gln81_Gly123del" }, "referenceSequence": "http://reg.genome.network/refseq/RS341893" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000511744.1:n.661C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS341943" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000514433.1:c.598C>T" ], "proteinEffect": { "hgvs": "ENSP00000421444.1:p.Gln200Ter", "hgvsWellDefined": "ENSP00000421444.1:p.Gln200Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS343915" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "ENST00000514921.5:c.595C>T" ], "proteinEffect": { "hgvs": "ENSP00000425142.1:p.Gln199Ter", "hgvsWellDefined": "ENSP00000425142.1:p.Gln200_Leu915delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAlaAlaHisSerValAspSerTyrCysAsnGlySerAspThrSerGlyProTrpLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS344283" }, { "@id": "http://reg.genome.network/allele/PA2826595780", "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "NM_001281746.1:c.595C>T" ], "proteinEffect": { "hgvs": "NP_001268675.1:p.Gln199Ter", "hgvsWellDefined": "NP_001268675.1:p.Gln200_Leu915delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAlaAlaHisSerValAspSerTyrCysAsnGlySerAspThrSerGlyProTrpLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021707" }, { "@id": "http://reg.genome.network/allele/PA2580186952", "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "NM_001281747.1:c.628C>T" ], "proteinEffect": { "hgvs": "NP_001268676.1:p.Gln210Ter", "hgvsWellDefined": "NP_001268676.1:p.Gln211_Gln993delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021708" }, { "@id": "http://reg.genome.network/allele/PA2830251799", "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "NM_138569.2:c.595C>T" ], "proteinEffect": { "hgvs": "NP_612636.2:p.Gln199Ter", "hgvsWellDefined": "NP_612636.2:p.Gln200_Gln458delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040785" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_005249476.3:c.595C>T" ], "proteinEffect": { "hgvs": "XP_005249533.1:p.Gln199Ter", "hgvsWellDefined": "XP_005249533.1:p.Gln200_His984delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058839" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_005249477.3:c.565C>T" ], "proteinEffect": { "hgvs": "XP_005249534.1:p.Gln189Ter", "hgvsWellDefined": "XP_005249534.1:p.Gln190_His974delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058840" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_005249478.3:c.439C>T" ], "proteinEffect": { "hgvs": "XP_005249535.1:p.Gln147Ter", "hgvsWellDefined": "XP_005249535.1:p.Gln148_His932delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058841" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_005249480.3:c.595C>T" ], "proteinEffect": { "hgvs": "XP_005249537.1:p.Gln199Ter", "hgvsWellDefined": "XP_005249537.1:p.Gln200_His460delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058842" }, { "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_006715245.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_006715308.1:p.Gln193Ter", "hgvsWellDefined": "XP_006715308.1:p.Gln194_His978delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071070" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_006715247.2:c.241C>T" ], "proteinEffect": { "hgvs": "XP_006715310.1:p.Gln81Ter", "hgvsWellDefined": "XP_006715310.1:p.Gln82_His866delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071071" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_006715248.2:c.241C>T" ], "proteinEffect": { "hgvs": "XP_006715311.1:p.Gln81Ter", "hgvsWellDefined": "XP_006715311.1:p.Gln82_His866delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071072" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_011514990.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_011513292.1:p.Gln199Ter", "hgvsWellDefined": "XP_011513292.1:p.Gln200_His984delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082211" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_005249476.5:c.595C>T" ], "proteinEffect": { "hgvs": "XP_005249533.1:p.Gln199Ter", "hgvsWellDefined": "XP_005249533.1:p.Gln200_His984delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533265" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "C", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_005249478.5:c.439C>T" ], "proteinEffect": { "hgvs": "XP_005249535.1:p.Gln147Ter", "hgvsWellDefined": "XP_005249535.1:p.Gln148_His932delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533266" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_005249480.5:c.595C>T" ], "proteinEffect": { "hgvs": "XP_005249537.1:p.Gln199Ter", "hgvsWellDefined": "XP_005249537.1:p.Gln200_His460delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533267" }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_006715245.3:c.628C>T" ], "proteinEffect": { "hgvs": "XP_006715308.2:p.Gln210Ter", "hgvsWellDefined": "XP_006715308.2:p.Gln211_His995delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538897" }, { "coordinates": [ { "allele": "T", "end": 797, "referenceAllele": "C", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_017011465.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_016866954.1:p.Gln210Ter", "hgvsWellDefined": "XP_016866954.1:p.Gln211_His947delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565305" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_017011466.2:c.628C>T" ], "proteinEffect": { "hgvs": "XP_016866955.1:p.Gln210Ter", "hgvsWellDefined": "XP_016866955.1:p.Gln211_Gln945delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565306" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_017011467.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_016866956.1:p.Gln210Ter", "hgvsWellDefined": "XP_016866956.1:p.Gln211_His925delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565307" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_017011468.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_016866957.1:p.Gln210Ter", "hgvsWellDefined": "XP_016866957.1:p.Gln211_Gln877delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565308" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_017011469.1:c.241C>T" ], "proteinEffect": { "hgvs": "XP_016866958.1:p.Gln81Ter", "hgvsWellDefined": "XP_016866958.1:p.Gln82_Gln816delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565309" }, { "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_017011470.1:c.565C>T" ], "proteinEffect": { "hgvs": "XP_016866959.1:p.Gln189Ter", "hgvsWellDefined": "XP_016866959.1:p.Gln190_His402delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565310" }, { "coordinates": [ { "allele": "T", "end": 558, "referenceAllele": "C", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_024446578.1:c.241C>T" ], "proteinEffect": { "hgvs": "XP_024302346.1:p.Gln81Ter", "hgvsWellDefined": "XP_024302346.1:p.Gln82_His866delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluAsnLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580237" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_024446579.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_024302347.1:p.Gln199Ter", "hgvsWellDefined": "XP_024302347.1:p.Gln200_Gln430delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580238" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_024446580.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_024302348.1:p.Gln199Ter", "hgvsWellDefined": "XP_024302348.1:p.Gln200_Gln410delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580239" }, { "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_024446581.1:c.439C>T" ], "proteinEffect": { "hgvs": "XP_024302349.1:p.Gln147Ter", "hgvsWellDefined": "XP_024302349.1:p.Gln148_Gln406delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580240" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "XM_024446582.1:c.595C>T" ], "proteinEffect": { "hgvs": "XP_024302350.1:p.Gln199Ter", "hgvsWellDefined": "XP_024302350.1:p.Gln200_Gln296delinsLysHisGlyGlnThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580241" }, { "@id": "http://reg.genome.network/allele/PA2580186952", "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "NM_001281747.2:c.628C>T" ], "proteinEffect": { "hgvs": "NP_001268676.1:p.Gln210Ter", "hgvsWellDefined": "NP_001268676.1:p.Gln211_Gln993delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664192", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000502396.6:c.628C>T" }, "RefSeq": { "hgvs": "NM_001281747.2:c.628C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426290.1:p.Gln210Ter" }, "RefSeq": { "hgvs": "NP_001268676.1:p.Gln210Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826595780", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "NM_001281746.2:c.595C>T" ], "proteinEffect": { "hgvs": "NP_001268675.1:p.Gln199Ter", "hgvsWellDefined": "NP_001268675.1:p.Gln200_Leu915delinsLysHisGlyGlnLeuThrSerSerProThrThrSerGluGlnLeuAlaCysLysProProAlaPheSerPheValSerProThrAsnProAsnThrProProAspProValAsnLeuGluGlyAlaSerValLeuGluGluPheHisThrArgArgLeuAspValGlyGlyAlaValValGluGluSerAlaThrTyrPheGlnThrThrAlaHisSerThrProPheSerAlaSerLysGlyThrSerSerThrLeuLeuPheProHisSerThrGlnLeuSerGlySerAsnLeuProSerSerThrAlaAlaAspProLysProGlyLeuThrSerGluValLeuLysLysThrThrLeuThrSerHisValLeuSerHisGlyGluSerProArgThrSerSerSerProProSerSerSerAlaSerLeuLysSerAsnSerAlaSerTyrIleProValArgIleValThrHisSerLeuSerProSerProLysProPheThrSerSerPheHisGlySerSerSerThrIleCysSerGlnMetSerSerSerGlyAsnLeuSerLysSerGlyValLysSerProValProSerArgLeuAlaLeuLeuThrAlaIleLeuLysSerAsnProSerHisGlnArgProPheSerProAlaSerCysProThrPheSerLeuAsnSerProAlaSerSerThrLeuThrLeuAspGlnLysGluLysGlnThrProProThrProLysLysSerLeuSerSerCysSerLeuArgAlaGlySerProAspGlnGlyGluLeuGlnValSerGluLeuThrGlnGlnSerPheHisLeuProValPheThrLysSerThrProLeuSerGlnAlaProSerLeuSerProThrLysGlnAlaSerSerSerLeuAlaSerMetAsnValGluArgThrProSerProThrLeuLysSerAsnThrMetLeuSerLeuLeuGlnThrSerThrSerSerSerValGlyLeuProProValProProSerSerSerLeuSerSerLeuLysSerLysGlnAspGlyAspLeuArgGlyProGluAsnProArgAsnIleHisThrTyrProSerThrLeuAlaSerSerAlaLeuSerSerLeuSerProProIleAsnGlnArgAlaThrPheSerSerSerGluLysCysPheHisProSerProAlaLeuSerSerLeuIleAsnArgSerLysArgAlaSerSerGlnLeuSerGlyGlnGluLeuAsnProSerAlaLeuProSerLeuProValSerSerAlaAspPheAlaSerLeuProAsnLeuArgSerSerSerLeuProHisAlaAsnLeuProThrLeuValProGlnLeuSerProSerAlaLeuHisProHisCysGlySerGlyThrLeuProSerArgLeuGlyLysSerGluSerThrThrProAsnHisArgSerProValSerThrProSerLeuProIleSerLeuThrArgThrGluGluLeuIleSerProCysAlaLeuSerMetSerThrGlyProGluAsnLysLysSerLysGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAlaAlaHisSerValAspSerTyrCysAsnGlySerAspThrSerGlyProTrpLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681668" }, { "@id": "http://reg.genome.network/allele/PA2830251799", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN021355", "geneNCBI_id": 90523, "geneSymbol": "MLIP", "hgvs": [ "NM_138569.3:c.595C>T" ], "proteinEffect": { "hgvs": "NP_612636.2:p.Gln199Ter", "hgvsWellDefined": "NP_612636.2:p.Gln200_Gln458delinsLysHisGlyGlnGlnTyrLysThrLysSerSerTyrLysAlaPheAlaAlaIleProThrAsnThrLeuLeuLeuGluGlnLysAlaLeuAspGluProAlaLysThrGluSerValSerLysAspAsnThrLeuGluProProValGluLeuTyrPheProAlaGlnLeuArgGlnGlnThrGluGluLeuCysAlaThrIleAspLysValLeuGlnAspSerLeuSerMetHisSerSerAspSerProSerArgSerProLysThrLeuLeuGlySerAspThrValLysThrProThrThrLeuProArgAlaAlaGlyArgGluThrLysTyrAlaAsnLeuSerSerProSerSerThrValSerGluSerGlnLeuThrLysProGlyValIleArgProValProValLysSerArgIleLeuLeuLysLysGluGluGluValTyrGluProAsnProPheSerLysTyrLeuGluAspAsnSerAspLeuPheSerGluGlnAspValThrValProProLysProValSerLeuHisProLeuTyrGlnThrLysLeuTyrProProAlaLysSerLeuLeuHisProGlnThrLeuSerHisAlaAspCysLeuAlaProGlyProPheSerHisLeuSerPheSerLeuSerAspGluGlnGluAsnSerHisThrLeuLeuSerHisAsnAlaCysAsnLysLeuSerHisProMetValAlaIleProGluHisGluAlaLeuAspSerLysGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729163" } ], "type": "nucleotide" }