{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5534631", "communityStandardTitle": [ "NM_001368882.1(COL13A1):c.1184G>A (p.Arg395Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2052982[alleleid]", "alleleId": 2052982, "preferredName": "NM_001368882.1(COL13A1):c.1184G>A (p.Arg395Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1994616", "RCV": [ "RCV002791266" ], "variationId": 1994616 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-71682504-G-A", "id": "10-71682504-G-A", "variant": "10:71682504 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71682504G>A?assembly=hg19", "id": "chr10:g.71682504G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.69922748G>A?assembly=hg38", "id": "chr10:g.69922748G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/761948329", "rs": 761948329 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71682504-G-A?dataset=gnomad_r2_1", "id": "10-71682504-G-A", "variant": "10:71682504 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-69922748-G-A?dataset=gnomad_r3", "id": "10-69922748-G-A", "variant": "10:69922748 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-69922748-G-A?dataset=gnomad_r4", "id": "10-69922748-G-A", "variant": "10:69922748 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 69922748, "referenceAllele": "G", "start": 69922747 } ], "hgvs": [ "NC_000010.11:g.69922748G>A", "CM000672.2:g.69922748G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71682504, "referenceAllele": "G", "start": 71682503 } ], "hgvs": [ "NC_000010.10:g.71682504G>A", "CM000672.1:g.71682504G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71352510, "referenceAllele": "G", "start": 71352509 } ], "hgvs": [ "NC_000010.9:g.71352510G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 125861, "referenceAllele": "G", "start": 125860 } ], "hgvs": [ "NG_046344.1:g.125861G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616380" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000398969.8:c.1210G>A" ], "proteinEffect": { "hgvs": "ENSP00000381941.5:n.1210G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS824536" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673628.2:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000501050.2:p.Arg362Lys", "hgvsWellDefined": "ENSP00000501050.2:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS826876" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673641.2:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000501125.2:p.Arg362Lys", "hgvsWellDefined": "ENSP00000501125.2:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS826879" }, { "coordinates": [ { "allele": "A", "end": 1007, "referenceAllele": "G", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673802.2:c.1007G>A" ], "proteinEffect": { "hgvs": "ENSP00000501147.2:p.Arg336Lys", "hgvsWellDefined": "ENSP00000501147.2:p.Arg336Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS826883" }, { "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "G", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673914.2:c.1017G>A" ], "proteinEffect": { "hgvs": "ENSP00000501202.2:n.1017G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826884" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673957.2:c.1122G>A" ], "proteinEffect": { "hgvs": "ENSP00000500966.2:n.1122G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826887" }, { "coordinates": [ { "allele": "A", "end": 1211, "referenceAllele": "G", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674008.2:c.1211G>A" ], "proteinEffect": { "hgvs": "ENSP00000501091.2:n.1211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826888" }, { "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "G", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674040.2:c.1174G>A" ], "proteinEffect": { "hgvs": "ENSP00000501131.2:n.1174G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826889" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "G", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674124.2:c.838G>A" ], "proteinEffect": { "hgvs": "ENSP00000501072.2:n.838G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826893" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000682048.1:n.371G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827046" }, { "coordinates": [ { "allele": "A", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000682511.1:n.94G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827501" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000682679.1:c.1210G>A" ], "proteinEffect": { "hgvs": "ENSP00000507571.1:n.1210G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827668" }, { "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000683194.1:n.608G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828176" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000683633.1:n.536G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828605" }, { "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000683667.1:n.608G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828638" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000683993.1:n.371G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828956" }, { "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000684309.1:n.608G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829265" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000684323.1:n.92G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829278" }, { "coordinates": [ { "allele": "A", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000684376.1:n.94G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829331" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "G", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000684387.1:n.802G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829342" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "G", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000357811.8:c.1148G>A" ], "proteinEffect": { "hgvs": "ENSP00000350463.4:p.Arg383Lys", "hgvsWellDefined": "ENSP00000350463.4:p.Arg383Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748996" }, { "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "G", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000398978.8:c.1151G>A" ], "proteinEffect": { "hgvs": "ENSP00000381949.3:p.Arg384Lys", "hgvsWellDefined": "ENSP00000381949.3:p.Arg384Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753801" }, { "coordinates": [ { "allele": "A", "end": 1702, "referenceAllele": "G", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000645393.2:c.1184G>A" ], "proteinEffect": { "hgvs": "ENSP00000496051.1:p.Arg395Lys", "hgvsWellDefined": "ENSP00000496051.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS768328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645393.2:c.1184G>A" }, "RefSeq": { "hgvs": "NM_001368882.1:c.1184G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496051.1:p.Arg395Lys" }, "RefSeq": { "hgvs": "NP_001355811.1:p.Arg395Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673628.1:c.976G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773741" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673641.1:c.901G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773750" }, { "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "G", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673802.1:c.823G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773881" }, { "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673842.1:c.1097G>A" ], "proteinEffect": { "hgvs": "ENSP00000501058.1:p.Arg366Lys", "hgvsWellDefined": "ENSP00000501058.1:p.Arg366Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773911" }, { "coordinates": [ { "allele": "A", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673850.1:c.94G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773916" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673914.1:c.934G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773969" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673931.1:c.103G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773985" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "G", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000673957.1:c.911G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774006" }, { "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "G", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674008.1:c.1174G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774041" }, { "coordinates": [ { "allele": "A", "end": 1091, "referenceAllele": "G", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674040.1:c.1091G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774066" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674050.1:c.462G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774075" }, { "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674121.1:c.980G>A" ], "proteinEffect": { "hgvs": "ENSP00000501084.1:p.Arg327Lys", "hgvsWellDefined": "ENSP00000501084.1:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS774140" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000674124.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000501072.1:p.Arg179Lys", "hgvsWellDefined": "ENSP00000501072.1:p.Arg179Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS774143" }, { "coordinates": [ { "allele": "A", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000354547.7:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000346553.3:p.Arg362Lys", "hgvsWellDefined": "ENSP00000346553.3:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS263160" }, { "coordinates": [ { "allele": "A", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000357811.7:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000350463.3:p.Arg362Lys", "hgvsWellDefined": "ENSP00000350463.3:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS264243" }, { "coordinates": [ { "allele": "A", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000398969.7:c.971G>A" ], "proteinEffect": { "hgvs": "ENSP00000381941.4:p.Arg324Lys", "hgvsWellDefined": "ENSP00000381941.4:p.Arg324Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS278492" }, { "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000398978.7:c.1151G>A" ], "proteinEffect": { "hgvs": "ENSP00000381949.3:p.Arg384Lys", "hgvsWellDefined": "ENSP00000381949.3:p.Arg384Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS278496" }, { "coordinates": [ { "allele": "A", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000479733.5:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000430089.1:p.Arg393Lys", "hgvsWellDefined": "ENSP00000430089.1:p.Arg393Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS320040" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000517713.5:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000430061.1:p.Arg362Lys", "hgvsWellDefined": "ENSP00000430061.1:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS345330" }, { "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "G", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000520133.5:c.998G>A" ], "proteinEffect": { "hgvs": "ENSP00000430173.1:p.Arg333Lys", "hgvsWellDefined": "ENSP00000430173.1:p.Arg333Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS347235" }, { "coordinates": [ { "allele": "A", "end": 1286, "referenceAllele": "G", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000520267.5:c.980G>A" ], "proteinEffect": { "hgvs": "ENSP00000428057.1:p.Arg327Lys", "hgvsWellDefined": "ENSP00000428057.1:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS347343" }, { "coordinates": [ { "allele": "A", "end": 1094, "referenceAllele": "G", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "ENST00000522165.5:c.1094G>A" ], "proteinEffect": { "hgvs": "ENSP00000428342.1:p.Arg365Lys", "hgvsWellDefined": "ENSP00000428342.1:p.Arg365Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS348837" }, { "@id": "http://reg.genome.network/allele/PA2825740232", "coordinates": [ { "allele": "A", "end": 1687, "referenceAllele": "G", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001130103.1:c.1151G>A" ], "proteinEffect": { "hgvs": "NP_001123575.1:p.Arg384Lys", "hgvsWellDefined": "NP_001123575.1:p.Arg384Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011980" }, { "@id": "http://reg.genome.network/allele/PA2830162171", "coordinates": [ { "allele": "A", "end": 1516, "referenceAllele": "G", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080798.3:c.980G>A" ], "proteinEffect": { "hgvs": "NP_542988.3:p.Arg327Lys", "hgvsWellDefined": "NP_542988.3:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040288" }, { "@id": "http://reg.genome.network/allele/PA2830162460", "coordinates": [ { "allele": "A", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080800.3:c.1094G>A" ], "proteinEffect": { "hgvs": "NP_542990.3:p.Arg365Lys", "hgvsWellDefined": "NP_542990.3:p.Arg365Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040289" }, { "@id": "http://reg.genome.network/allele/PA2830162742", "coordinates": [ { "allele": "A", "end": 1621, "referenceAllele": "G", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080801.3:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_542991.3:p.Arg362Lys", "hgvsWellDefined": "NP_542991.3:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040290" }, { "@id": "http://reg.genome.network/allele/PA2830163022", "coordinates": [ { "allele": "A", "end": 1621, "referenceAllele": "G", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080802.3:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_542992.3:p.Arg362Lys", "hgvsWellDefined": "NP_542992.3:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040291" }, { "@id": "http://reg.genome.network/allele/PA2830163244", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080805.3:c.998G>A" ], "proteinEffect": { "hgvs": "NP_542995.3:p.Arg333Lys", "hgvsWellDefined": "NP_542995.3:p.Arg333Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040292" }, { "coordinates": [ { "allele": "A", "end": 1741, "referenceAllele": "G", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539292.1:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_011537594.1:p.Arg395Lys", "hgvsWellDefined": "XP_011537594.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106242" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539293.1:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_011537595.1:p.Arg395Lys", "hgvsWellDefined": "XP_011537595.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106243" }, { "coordinates": [ { "allele": "A", "end": 1677, "referenceAllele": "G", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539294.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011537596.1:p.Arg374Lys", "hgvsWellDefined": "XP_011537596.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106244" }, { "coordinates": [ { "allele": "A", "end": 1739, "referenceAllele": "G", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539295.1:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_011537597.1:p.Arg395Lys", "hgvsWellDefined": "XP_011537597.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106245" }, { "@id": "http://reg.genome.network/allele/PA2827061345", "coordinates": [ { "allele": "A", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001320951.1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001307880.1:p.Arg374Lys", "hgvsWellDefined": "NP_001307880.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS513922" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539292.3:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_011537594.1:p.Arg395Lys", "hgvsWellDefined": "XP_011537594.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553592" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539293.3:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_011537595.1:p.Arg395Lys", "hgvsWellDefined": "XP_011537595.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553593" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539294.3:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011537596.1:p.Arg374Lys", "hgvsWellDefined": "XP_011537596.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553594" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_011539295.3:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_011537597.1:p.Arg395Lys", "hgvsWellDefined": "XP_011537597.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553595" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015676.2:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_016871165.1:p.Arg395Lys", "hgvsWellDefined": "XP_016871165.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568318" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015677.2:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_016871166.1:p.Arg395Lys", "hgvsWellDefined": "XP_016871166.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568319" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015679.2:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_016871168.1:p.Arg395Lys", "hgvsWellDefined": "XP_016871168.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568320" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015680.2:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_016871169.1:p.Arg395Lys", "hgvsWellDefined": "XP_016871169.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568321" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015681.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016871170.1:p.Arg374Lys", "hgvsWellDefined": "XP_016871170.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568322" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015682.2:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_016871171.1:p.Arg395Lys", "hgvsWellDefined": "XP_016871171.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568323" }, { "coordinates": [ { "allele": "A", "end": 1737, "referenceAllele": "G", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015683.2:c.1148G>A" ], "proteinEffect": { "hgvs": "XP_016871172.1:p.Arg383Lys", "hgvsWellDefined": "XP_016871172.1:p.Arg383Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568324" }, { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "G", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015684.2:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_016871173.1:p.Arg362Lys", "hgvsWellDefined": "XP_016871173.1:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568325" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015685.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016871174.1:p.Arg374Lys", "hgvsWellDefined": "XP_016871174.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568326" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015686.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016871175.1:p.Arg374Lys", "hgvsWellDefined": "XP_016871175.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568327" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015687.2:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_016871176.1:p.Arg395Lys", "hgvsWellDefined": "XP_016871176.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568328" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015688.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016871177.1:p.Arg374Lys", "hgvsWellDefined": "XP_016871177.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568329" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015689.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016871178.1:p.Arg374Lys", "hgvsWellDefined": "XP_016871178.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568330" }, { "coordinates": [ { "allele": "A", "end": 1683, "referenceAllele": "G", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015690.2:c.1094G>A" ], "proteinEffect": { "hgvs": "XP_016871179.1:p.Arg365Lys", "hgvsWellDefined": "XP_016871179.1:p.Arg365Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568331" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015691.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016871180.1:p.Arg374Lys", "hgvsWellDefined": "XP_016871180.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568332" }, { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "G", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015692.2:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_016871181.1:p.Arg362Lys", "hgvsWellDefined": "XP_016871181.1:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568333" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015693.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016871182.1:p.Arg374Lys", "hgvsWellDefined": "XP_016871182.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568334" }, { "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "G", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015694.2:c.980G>A" ], "proteinEffect": { "hgvs": "XP_016871183.1:p.Arg327Lys", "hgvsWellDefined": "XP_016871183.1:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568335" }, { "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "G", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015695.2:c.980G>A" ], "proteinEffect": { "hgvs": "XP_016871184.1:p.Arg327Lys", "hgvsWellDefined": "XP_016871184.1:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568336" }, { "coordinates": [ { "allele": "A", "end": 1091, "referenceAllele": "G", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_017015697.2:c.521G>A" ], "proteinEffect": { "hgvs": "XP_016871186.1:p.Arg174Lys", "hgvsWellDefined": "XP_016871186.1:p.Arg174Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568337" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_024447815.1:c.1184G>A" ], "proteinEffect": { "hgvs": "XP_024303583.1:p.Arg395Lys", "hgvsWellDefined": "XP_024303583.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581396" }, { "coordinates": [ { "allele": "A", "end": 1587, "referenceAllele": "G", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_024447816.1:c.998G>A" ], "proteinEffect": { "hgvs": "XP_024303584.1:p.Arg333Lys", "hgvsWellDefined": "XP_024303584.1:p.Arg333Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581397" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_024447817.1:c.1007G>A" ], "proteinEffect": { "hgvs": "XP_024303585.1:p.Arg336Lys", "hgvsWellDefined": "XP_024303585.1:p.Arg336Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581398" }, { "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "G", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XM_024447818.1:c.980G>A" ], "proteinEffect": { "hgvs": "XP_024303586.1:p.Arg327Lys", "hgvsWellDefined": "XP_024303586.1:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581399" }, { "coordinates": [ { "allele": "A", "end": 1747, "referenceAllele": "G", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "XR_001747024.2:n.1747G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595247" }, { "@id": "http://reg.genome.network/allele/PA2825740232", "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "G", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001130103.2:c.1151G>A" ], "proteinEffect": { "hgvs": "NP_001123575.1:p.Arg384Lys", "hgvsWellDefined": "NP_001123575.1:p.Arg384Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677094" }, { "@id": "http://reg.genome.network/allele/PA2827061345", "coordinates": [ { "allele": "A", "end": 1639, "referenceAllele": "G", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001320951.2:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001307880.1:p.Arg374Lys", "hgvsWellDefined": "NP_001307880.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685120" }, { "@id": "http://reg.genome.network/allele/PA2580229048", "coordinates": [ { "allele": "A", "end": 1702, "referenceAllele": "G", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368882.1:c.1184G>A" ], "proteinEffect": { "hgvs": "NP_001355811.1:p.Arg395Lys", "hgvsWellDefined": "NP_001355811.1:p.Arg395Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691444", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645393.2:c.1184G>A" }, "RefSeq": { "hgvs": "NM_001368882.1:c.1184G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496051.1:p.Arg395Lys" }, "RefSeq": { "hgvs": "NP_001355811.1:p.Arg395Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2828291626", "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368883.1:c.1148G>A" ], "proteinEffect": { "hgvs": "NP_001355812.1:p.Arg383Lys", "hgvsWellDefined": "NP_001355812.1:p.Arg383Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691445" }, { "@id": "http://reg.genome.network/allele/PA2828291876", "coordinates": [ { "allele": "A", "end": 1639, "referenceAllele": "G", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368884.1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001355813.1:p.Arg374Lys", "hgvsWellDefined": "NP_001355813.1:p.Arg374Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691446" }, { "@id": "http://reg.genome.network/allele/PA2828292144", "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368885.1:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_001355814.1:p.Arg362Lys", "hgvsWellDefined": "NP_001355814.1:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691447" }, { "@id": "http://reg.genome.network/allele/PA2828292288", "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "G", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368886.1:c.521G>A" ], "proteinEffect": { "hgvs": "NP_001355815.1:p.Arg174Lys", "hgvsWellDefined": "NP_001355815.1:p.Arg174Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691448" }, { "@id": "http://reg.genome.network/allele/PA2828295230", "coordinates": [ { "allele": "A", "end": 1612, "referenceAllele": "G", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368895.1:c.1094G>A" ], "proteinEffect": { "hgvs": "NP_001355824.1:p.Arg365Lys", "hgvsWellDefined": "NP_001355824.1:p.Arg365Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691457" }, { "@id": "http://reg.genome.network/allele/PA2828295478", "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "G", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368896.1:c.980G>A" ], "proteinEffect": { "hgvs": "NP_001355825.1:p.Arg327Lys", "hgvsWellDefined": "NP_001355825.1:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691458" }, { "@id": "http://reg.genome.network/allele/PA2828295728", "coordinates": [ { "allele": "A", "end": 1525, "referenceAllele": "G", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368897.1:c.1007G>A" ], "proteinEffect": { "hgvs": "NP_001355826.1:p.Arg336Lys", "hgvsWellDefined": "NP_001355826.1:p.Arg336Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691459" }, { "@id": "http://reg.genome.network/allele/PA2828295968", "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "G", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_001368898.1:c.980G>A" ], "proteinEffect": { "hgvs": "NP_001355827.1:p.Arg327Lys", "hgvsWellDefined": "NP_001355827.1:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS691460" }, { "@id": "http://reg.genome.network/allele/PA2830162171", "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "G", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080798.4:c.980G>A" ], "proteinEffect": { "hgvs": "NP_542988.3:p.Arg327Lys", "hgvsWellDefined": "NP_542988.3:p.Arg327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS699557" }, { "@id": "http://reg.genome.network/allele/PA2830162460", "coordinates": [ { "allele": "A", "end": 1612, "referenceAllele": "G", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080800.4:c.1094G>A" ], "proteinEffect": { "hgvs": "NP_542990.3:p.Arg365Lys", "hgvsWellDefined": "NP_542990.3:p.Arg365Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS699558" }, { "@id": "http://reg.genome.network/allele/PA2830162742", "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080801.4:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_542991.3:p.Arg362Lys", "hgvsWellDefined": "NP_542991.3:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS699559" }, { "@id": "http://reg.genome.network/allele/PA2830163022", "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080802.4:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_542992.3:p.Arg362Lys", "hgvsWellDefined": "NP_542992.3:p.Arg362Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS699560" }, { "@id": "http://reg.genome.network/allele/PA2830163244", "coordinates": [ { "allele": "A", "end": 1516, "referenceAllele": "G", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN002190", "geneNCBI_id": 1305, "geneSymbol": "COL13A1", "hgvs": [ "NM_080805.4:c.998G>A" ], "proteinEffect": { "hgvs": "NP_542995.3:p.Arg333Lys", "hgvsWellDefined": "NP_542995.3:p.Arg333Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS699561" } ], "type": "nucleotide" }