{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA262038", "communityStandardTitle": [ "NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57270[alleleid]", "alleleId": 57270, "preferredName": "NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48106", "RCV": [ "RCV000041392", "RCV000763604", "RCV001849294", "RCV002243687" ], "variationId": 48106 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.72111606A>G?assembly=hg19", "id": "chr8:g.72111606A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.71199371A>G?assembly=hg38", "id": "chr8:g.71199371A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397517920", "rs": 397517920 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 71199371, "referenceAllele": "A", "start": 71199370 } ], "hgvs": [ "NC_000008.11:g.71199371A>G", "CM000670.2:g.71199371A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 72111606, "referenceAllele": "A", "start": 72111605 } ], "hgvs": [ "NC_000008.10:g.72111606A>G", "CM000670.1:g.72111606A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "G", "end": 72274160, "referenceAllele": "A", "start": 72274159 } ], "hgvs": [ "NC_000008.9:g.72274160A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "C", "end": 167862, "referenceAllele": "T", "start": 167861 } ], "hgvs": [ "NG_011735.2:g.167862T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001938" }, { "coordinates": [ { "allele": "C", "end": 353760, "referenceAllele": "T", "start": 353759 } ], "hgvs": [ "NG_011735.3:g.353760T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616149" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2225, "referenceAllele": "T", "start": 2224 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000340726.8:c.1748T>C" ], "proteinEffect": { "hgvs": "ENSP00000342626.3:p.Leu583Pro", "hgvsWellDefined": "ENSP00000342626.3:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS747927", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340726.8:c.1748T>C" }, "RefSeq": { "hgvs": "NM_000503.6:c.1748T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342626.3:p.Leu583Pro" }, "RefSeq": { "hgvs": "NP_000494.2:p.Leu583Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 2161, "referenceAllele": "T", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388741.7:c.1646T>C" ], "proteinEffect": { "hgvs": "ENSP00000373393.2:p.Leu549Pro", "hgvsWellDefined": "ENSP00000373393.2:p.Leu549Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS752747" }, { "coordinates": [ { "allele": "C", "end": 1697, "referenceAllele": "T", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000419131.6:c.1643T>C" ], "proteinEffect": { "hgvs": "ENSP00000410176.1:p.Leu548Pro", "hgvsWellDefined": "ENSP00000410176.1:p.Leu548Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS754777" }, { "coordinates": [ { "allele": "C", "end": 1805, "referenceAllele": "T", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000465115.6:c.*1027T>C" ], "proteinEffect": { "hgvs": "ENSP00000428391.1:n.*1027T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS756822" }, { "coordinates": [ { "allele": "C", "end": 2211, "referenceAllele": "T", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000496494.6:n.2211T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS757833" }, { "coordinates": [ { "allele": "C", "end": 1911, "referenceAllele": "T", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000642391.1:c.*1425T>C" ], "proteinEffect": { "hgvs": "ENSP00000496700.1:n.*1425T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS766716" }, { "coordinates": [ { "allele": "C", "end": 2180, "referenceAllele": "T", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000643681.1:c.1835T>C" ], "proteinEffect": { "hgvs": "ENSP00000495390.1:p.Leu612Pro", "hgvsWellDefined": "ENSP00000495390.1:p.Leu612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767406" }, { "coordinates": [ { "allele": "C", "end": 1935, "referenceAllele": "T", "start": 1934 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000644229.1:c.1730T>C" ], "proteinEffect": { "hgvs": "ENSP00000494568.1:p.Leu577Pro", "hgvsWellDefined": "ENSP00000494568.1:p.Leu577Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767712" }, { "coordinates": [ { "allele": "C", "end": 818, "referenceAllele": "T", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000644424.1:n.818T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767810" }, { "coordinates": [ { "allele": "C", "end": 1991, "referenceAllele": "T", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000644712.1:c.1727T>C" ], "proteinEffect": { "hgvs": "ENSP00000496188.1:p.Leu576Pro", "hgvsWellDefined": "ENSP00000496188.1:p.Leu576Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767959" }, { "coordinates": [ { "allele": "C", "end": 2394, "referenceAllele": "T", "start": 2393 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000645793.1:c.1748T>C" ], "proteinEffect": { "hgvs": "ENSP00000496255.1:p.Leu583Pro", "hgvsWellDefined": "ENSP00000496255.1:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS768549" }, { "coordinates": [ { "allele": "C", "end": 2093, "referenceAllele": "T", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000647540.1:c.1748T>C" ], "proteinEffect": { "hgvs": "ENSP00000494438.1:p.Leu583Pro", "hgvsWellDefined": "ENSP00000494438.1:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS769473" }, { "coordinates": [ { "allele": "C", "end": 1998, "referenceAllele": "T", "start": 1997 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000303824.11:c.1730T>C" ], "proteinEffect": { "hgvs": "ENSP00000303221.7:p.Leu577Pro", "hgvsWellDefined": "ENSP00000303221.7:p.Leu577Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS255367" }, { "coordinates": [ { "allele": "C", "end": 2388, "referenceAllele": "T", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000340726.7:c.1748T>C" ], "proteinEffect": { "hgvs": "ENSP00000342626.3:p.Leu583Pro", "hgvsWellDefined": "ENSP00000342626.3:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS261159" }, { "coordinates": [ { "allele": "C", "end": 1852, "referenceAllele": "T", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388740.4:c.1649T>C" ], "proteinEffect": { "hgvs": "ENSP00000373392.3:p.Leu550Pro", "hgvsWellDefined": "ENSP00000373392.3:p.Leu550Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS274064" }, { "coordinates": [ { "allele": "C", "end": 2161, "referenceAllele": "T", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388741.6:c.1646T>C" ], "proteinEffect": { "hgvs": "ENSP00000373393.2:p.Leu549Pro", "hgvsWellDefined": "ENSP00000373393.2:p.Leu549Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS274065" }, { "coordinates": [ { "allele": "C", "end": 1969, "referenceAllele": "T", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388742.8:c.1748T>C" ], "proteinEffect": { "hgvs": "ENSP00000373394.4:p.Leu583Pro", "hgvsWellDefined": "ENSP00000373394.4:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS274066" }, { "coordinates": [ { "allele": "C", "end": 1897, "referenceAllele": "T", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000388743.6:c.1745T>C" ], "proteinEffect": { "hgvs": "ENSP00000373395.2:p.Leu582Pro", "hgvsWellDefined": "ENSP00000373395.2:p.Leu582Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS274067" }, { "coordinates": [ { "allele": "C", "end": 1672, "referenceAllele": "T", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000419131.5:c.1643T>C" ], "proteinEffect": { "hgvs": "ENSP00000410176.1:p.Leu548Pro", "hgvsWellDefined": "ENSP00000410176.1:p.Leu548Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS285740" }, { "coordinates": [ { "allele": "C", "end": 1805, "referenceAllele": "T", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000465115.5:c.*1027T>C" ], "proteinEffect": { "hgvs": "ENSP00000428391.1:n.*1027T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS308784" }, { "coordinates": [ { "allele": "C", "end": 2243, "referenceAllele": "T", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "ENST00000496494.5:n.2243T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS332943" }, { "@id": "http://reg.genome.network/allele/PA096900", "coordinates": [ { "allele": "C", "end": 2388, "referenceAllele": "T", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_000503.5:c.1748T>C" ], "proteinEffect": { "hgvs": "NP_000494.2:p.Leu583Pro", "hgvsWellDefined": "NP_000494.2:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006557" }, { "@id": "http://reg.genome.network/allele/PA2826707573", "coordinates": [ { "allele": "C", "end": 2370, "referenceAllele": "T", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288574.1:c.1730T>C" ], "proteinEffect": { "hgvs": "NP_001275503.1:p.Leu577Pro", "hgvsWellDefined": "NP_001275503.1:p.Leu577Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS023477" }, { "@id": "http://reg.genome.network/allele/PA2826707954", "coordinates": [ { "allele": "C", "end": 2306, "referenceAllele": "T", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288575.1:c.1382T>C" ], "proteinEffect": { "hgvs": "NP_001275504.1:p.Leu461Pro", "hgvsWellDefined": "NP_001275504.1:p.Leu461Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS023478" }, { "@id": "http://reg.genome.network/allele/PA262039", "coordinates": [ { "allele": "C", "end": 1980, "referenceAllele": "T", "start": 1979 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172058.3:c.1748T>C" ], "proteinEffect": { "hgvs": "NP_742055.1:p.Leu583Pro", "hgvsWellDefined": "NP_742055.1:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS042627" }, { "coordinates": [ { "allele": "C", "end": 1697, "referenceAllele": "T", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.3:c.1643T>C" ], "proteinEffect": { "hgvs": "NP_742056.1:p.Leu548Pro", "hgvsWellDefined": "NP_742056.1:p.Leu548Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS042628" }, { "coordinates": [ { "allele": "C", "end": 1852, "referenceAllele": "T", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172060.3:c.1649T>C" ], "proteinEffect": { "hgvs": "NP_742057.1:p.Leu550Pro", "hgvsWellDefined": "NP_742057.1:p.Leu550Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS042629" }, { "coordinates": [ { "allele": "C", "end": 1930, "referenceAllele": "T", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517481.1:c.1821T>C" ], "proteinEffect": { "hgvs": "XP_011515783.1:p.Pro607=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084675" }, { "coordinates": [ { "allele": "C", "end": 1969, "referenceAllele": "T", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517482.1:c.1836T>C" ], "proteinEffect": { "hgvs": "XP_011515784.1:p.Pro612=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084676" }, { "coordinates": [ { "allele": "C", "end": 1799, "referenceAllele": "T", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517483.1:c.1745T>C" ], "proteinEffect": { "hgvs": "XP_011515785.1:p.Leu582Pro", "hgvsWellDefined": "XP_011515785.1:p.Leu582Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS084677" }, { "coordinates": [ { "allele": "C", "end": 1787, "referenceAllele": "T", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517484.1:c.1733T>C" ], "proteinEffect": { "hgvs": "XP_011515786.1:p.Leu578Pro", "hgvsWellDefined": "XP_011515786.1:p.Leu578Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS084678" }, { "coordinates": [ { "allele": "C", "end": 2125, "referenceAllele": "T", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517485.1:c.1749T>C" ], "proteinEffect": { "hgvs": "XP_011515787.1:p.Pro583=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084679" }, { "coordinates": [ { "allele": "C", "end": 2975, "referenceAllele": "T", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517486.1:c.1749T>C" ], "proteinEffect": { "hgvs": "XP_011515788.1:p.Pro583=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084680" }, { "coordinates": [ { "allele": "C", "end": 1896, "referenceAllele": "T", "start": 1895 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517487.1:c.1749T>C" ], "proteinEffect": { "hgvs": "XP_011515789.1:p.Pro583=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084681" }, { "coordinates": [ { "allele": "C", "end": 2252, "referenceAllele": "T", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517488.1:c.1746T>C" ], "proteinEffect": { "hgvs": "XP_011515790.1:p.Pro582=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084682" }, { "coordinates": [ { "allele": "C", "end": 2026, "referenceAllele": "T", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517489.1:c.1686T>C" ], "proteinEffect": { "hgvs": "XP_011515791.1:p.Pro562=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084683" }, { "coordinates": [ { "allele": "C", "end": 2158, "referenceAllele": "T", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517490.1:c.1650T>C" ], "proteinEffect": { "hgvs": "XP_011515792.1:p.Pro550=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084684" }, { "coordinates": [ { "allele": "C", "end": 1997, "referenceAllele": "T", "start": 1996 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517491.1:c.1650T>C" ], "proteinEffect": { "hgvs": "XP_011515793.1:p.Pro550=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084685" }, { "coordinates": [ { "allele": "C", "end": 1931, "referenceAllele": "T", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517492.1:c.1398T>C" ], "proteinEffect": { "hgvs": "XP_011515794.1:p.Pro466=" }, "referenceSequence": "http://reg.genome.network/refseq/RS084686" }, { "@id": "http://reg.genome.network/allele/PA2830341284", "coordinates": [ { "allele": "C", "end": 1945, "referenceAllele": "T", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.4:c.1730T>C" ], "proteinEffect": { "hgvs": "NP_742056.2:p.Leu577Pro", "hgvsWellDefined": "NP_742056.2:p.Leu577Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS526725" }, { "coordinates": [ { "allele": "C", "end": 6685, "referenceAllele": "T", "start": 6684 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517483.2:c.1745T>C" ], "proteinEffect": { "hgvs": "XP_011515785.1:p.Leu582Pro", "hgvsWellDefined": "XP_011515785.1:p.Leu582Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS544551" }, { "coordinates": [ { "allele": "C", "end": 2132, "referenceAllele": "T", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_011517484.3:c.1820T>C" ], "proteinEffect": { "hgvs": "XP_011515786.2:p.Leu607Pro", "hgvsWellDefined": "XP_011515786.2:p.Leu607Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS544552" }, { "coordinates": [ { "allele": "C", "end": 2174, "referenceAllele": "T", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013201.1:c.1835T>C" ], "proteinEffect": { "hgvs": "XP_016868690.1:p.Leu612Pro", "hgvsWellDefined": "XP_016868690.1:p.Leu612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566568" }, { "coordinates": [ { "allele": "C", "end": 2018, "referenceAllele": "T", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013202.1:c.1835T>C" ], "proteinEffect": { "hgvs": "XP_016868691.1:p.Leu612Pro", "hgvsWellDefined": "XP_016868691.1:p.Leu612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566569" }, { "coordinates": [ { "allele": "C", "end": 2144, "referenceAllele": "T", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013203.2:c.1832T>C" ], "proteinEffect": { "hgvs": "XP_016868692.1:p.Leu611Pro", "hgvsWellDefined": "XP_016868692.1:p.Leu611Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566570" }, { "coordinates": [ { "allele": "C", "end": 2130, "referenceAllele": "T", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013204.2:c.1817T>C" ], "proteinEffect": { "hgvs": "XP_016868693.1:p.Leu606Pro", "hgvsWellDefined": "XP_016868693.1:p.Leu606Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566571" }, { "coordinates": [ { "allele": "C", "end": 2127, "referenceAllele": "T", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013206.1:c.1748T>C" ], "proteinEffect": { "hgvs": "XP_016868695.1:p.Leu583Pro", "hgvsWellDefined": "XP_016868695.1:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566573" }, { "coordinates": [ { "allele": "C", "end": 2056, "referenceAllele": "T", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013207.2:c.1745T>C" ], "proteinEffect": { "hgvs": "XP_016868696.1:p.Leu582Pro", "hgvsWellDefined": "XP_016868696.1:p.Leu582Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566574" }, { "coordinates": [ { "allele": "C", "end": 2251, "referenceAllele": "T", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013208.2:c.1745T>C" ], "proteinEffect": { "hgvs": "XP_016868697.1:p.Leu582Pro", "hgvsWellDefined": "XP_016868697.1:p.Leu582Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566575" }, { "coordinates": [ { "allele": "C", "end": 2040, "referenceAllele": "T", "start": 2039 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013210.2:c.1727T>C" ], "proteinEffect": { "hgvs": "XP_016868699.1:p.Leu576Pro", "hgvsWellDefined": "XP_016868699.1:p.Leu576Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566576" }, { "coordinates": [ { "allele": "C", "end": 2017, "referenceAllele": "T", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013211.2:c.1685T>C" ], "proteinEffect": { "hgvs": "XP_016868700.1:p.Leu562Pro", "hgvsWellDefined": "XP_016868700.1:p.Leu562Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566577" }, { "coordinates": [ { "allele": "C", "end": 2280, "referenceAllele": "T", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013212.2:c.1649T>C" ], "proteinEffect": { "hgvs": "XP_016868701.1:p.Leu550Pro", "hgvsWellDefined": "XP_016868701.1:p.Leu550Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566578" }, { "coordinates": [ { "allele": "C", "end": 6823, "referenceAllele": "T", "start": 6822 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "XM_017013213.1:c.1397T>C" ], "proteinEffect": { "hgvs": "XP_016868702.1:p.Leu466Pro", "hgvsWellDefined": "XP_016868702.1:p.Leu466Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS566579" }, { "coordinates": [ { "allele": "G", "end": 5008, "endIntronDirection": "+", "endIntronOffset": 26, "referenceAllele": "A", "start": 5008, "startIntronDirection": "+", "startIntronOffset": 25 } ], "hgvs": [ "XR_001745954.1:n.5008+26A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594352" }, { "@id": "http://reg.genome.network/allele/PA096900", "coordinates": [ { "allele": "C", "end": 2225, "referenceAllele": "T", "start": 2224 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_000503.6:c.1748T>C" ], "proteinEffect": { "hgvs": "NP_000494.2:p.Leu583Pro", "hgvsWellDefined": "NP_000494.2:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS662465", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340726.8:c.1748T>C" }, "RefSeq": { "hgvs": "NM_000503.6:c.1748T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342626.3:p.Leu583Pro" }, "RefSeq": { "hgvs": "NP_000494.2:p.Leu583Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA2826707573", "coordinates": [ { "allele": "C", "end": 2207, "referenceAllele": "T", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288574.2:c.1730T>C" ], "proteinEffect": { "hgvs": "NP_001275503.1:p.Leu577Pro", "hgvsWellDefined": "NP_001275503.1:p.Leu577Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS682451" }, { "@id": "http://reg.genome.network/allele/PA2826707954", "coordinates": [ { "allele": "C", "end": 2143, "referenceAllele": "T", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001288575.2:c.1382T>C" ], "proteinEffect": { "hgvs": "NP_001275504.1:p.Leu461Pro", "hgvsWellDefined": "NP_001275504.1:p.Leu461Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS682452" }, { "@id": "http://reg.genome.network/allele/PA916048430", "coordinates": [ { "allele": "C", "end": 2138, "referenceAllele": "T", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370333.1:c.1835T>C" ], "proteinEffect": { "hgvs": "NP_001357262.1:p.Leu612Pro", "hgvsWellDefined": "NP_001357262.1:p.Leu612Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS692340" }, { "@id": "http://reg.genome.network/allele/PA2828406928", "coordinates": [ { "allele": "C", "end": 2171, "referenceAllele": "T", "start": 2170 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370334.1:c.1748T>C" ], "proteinEffect": { "hgvs": "NP_001357263.1:p.Leu583Pro", "hgvsWellDefined": "NP_001357263.1:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS692341" }, { "@id": "http://reg.genome.network/allele/PA2828407177", "coordinates": [ { "allele": "C", "end": 2427, "referenceAllele": "T", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370335.1:c.1748T>C" ], "proteinEffect": { "hgvs": "NP_001357264.1:p.Leu583Pro", "hgvsWellDefined": "NP_001357264.1:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS692342" }, { "@id": "http://reg.genome.network/allele/PA2828407418", "coordinates": [ { "allele": "C", "end": 2030, "referenceAllele": "T", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_001370336.1:c.1727T>C" ], "proteinEffect": { "hgvs": "NP_001357265.1:p.Leu576Pro", "hgvsWellDefined": "NP_001357265.1:p.Leu576Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS692343" }, { "@id": "http://reg.genome.network/allele/PA262039", "coordinates": [ { "allele": "C", "end": 1997, "referenceAllele": "T", "start": 1996 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172058.4:c.1748T>C" ], "proteinEffect": { "hgvs": "NP_742055.1:p.Leu583Pro", "hgvsWellDefined": "NP_742055.1:p.Leu583Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS700463" }, { "@id": "http://reg.genome.network/allele/PA2830341284", "coordinates": [ { "allele": "C", "end": 1992, "referenceAllele": "T", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN003519", "geneNCBI_id": 2138, "geneSymbol": "EYA1", "hgvs": [ "NM_172059.5:c.1730T>C" ], "proteinEffect": { "hgvs": "NP_742056.2:p.Leu577Pro", "hgvsWellDefined": "NP_742056.2:p.Leu577Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS700464" } ], "type": "nucleotide" }