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Items: 1 to 20 of 327

1.

rs1486708691 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:158713045 (GRCh38)
    5:158140053 (GRCh37)
    Canonical SPDI:
    NC_000005.10:158713044:C:T
    Gene:
    EBF1 (Varview)
    Functional Consequence:
    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000111/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.158713045C>T, NC_000005.9:g.158140053C>T, NM_024007.5:c.1294G>A, NM_024007.4:c.1294G>A, NM_024007.3:c.1294G>A, XM_017009200.3:c.676G>A, XM_017009200.2:c.676G>A, XM_017009200.1:c.676G>A, NM_001290360.3:c.1297G>A, NM_001290360.2:c.1297G>A, NM_001290360.1:c.1297G>A, NM_182708.3:c.1201G>A, NM_182708.2:c.1201G>A, NM_182708.1:c.1201G>A, NM_001364157.2:c.1183G>A, NM_001364157.1:c.1183G>A, NM_001364156.2:c.1180G>A, NM_001364156.1:c.1180G>A, NM_001324111.2:c.898G>A, NM_001324111.1:c.898G>A, NM_001324101.2:c.1297G>A, NM_001324101.1:c.1297G>A, NM_001324103.2:c.1294G>A, NM_001324103.1:c.1294G>A, NM_001324106.2:c.1270G>A, NM_001324106.1:c.1270G>A, NM_001324107.2:c.1273G>A, NM_001324107.1:c.1273G>A, NM_001324108.2:c.1270G>A, NM_001324108.1:c.1270G>A, NM_001364159.2:c.895G>A, NM_001364159.1:c.895G>A, NM_001364158.2:c.871G>A, NM_001364158.1:c.871G>A, NM_001324109.2:c.1297G>A, NM_001324109.1:c.1297G>A, NM_001364155.2:c.1294G>A, NM_001364155.1:c.1294G>A, XM_017009199.2:c.676G>A, XM_017009199.1:c.676G>A, XM_017009197.2:c.1180G>A, XM_017009197.1:c.1180G>A, XM_017009194.2:c.1273G>A, XM_017009194.1:c.1273G>A, XM_024454390.2:c.898G>A, XM_024454390.1:c.898G>A, XM_024454391.2:c.898G>A, XM_024454391.1:c.898G>A, XM_047416891.1:c.676G>A, XM_047416889.1:c.1183G>A, XM_047416890.1:c.1156G>A, XM_047416888.1:c.1156G>A, NP_076870.1:p.Gly432Arg, XP_016864689.1:p.Gly226Arg, NP_001277289.1:p.Gly433Arg, NP_874367.1:p.Gly401Arg, NP_001351086.1:p.Gly395Arg, NP_001351085.1:p.Gly394Arg, NP_001311040.1:p.Gly300Arg, NP_001311030.1:p.Gly433Arg, NP_001311032.1:p.Gly432Arg, NP_001311035.1:p.Gly424Arg, NP_001311036.1:p.Gly425Arg, NP_001311037.1:p.Gly424Arg, NP_001351088.1:p.Gly299Arg, NP_001351087.1:p.Gly291Arg, NP_001311038.1:p.Gly433Arg, NP_001351084.1:p.Gly432Arg, XP_016864688.1:p.Gly226Arg, XP_016864686.1:p.Gly394Arg, XP_016864683.1:p.Gly425Arg, XP_024310158.1:p.Gly300Arg, XP_024310159.1:p.Gly300Arg, XP_047272847.1:p.Gly226Arg, XP_047272845.1:p.Gly395Arg, XP_047272846.1:p.Gly386Arg, XP_047272844.1:p.Gly386Arg

    2.

    rs1486528293 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      5:158712261 (GRCh38)
      5:158139269 (GRCh37)
      Canonical SPDI:
      NC_000005.10:158712260:T:A
      Gene:
      EBF1 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.158712261T>A, NC_000005.9:g.158139269T>A, NM_024007.5:c.1442A>T, NM_024007.4:c.1442A>T, NM_024007.3:c.1442A>T, XM_017009200.3:c.824A>T, XM_017009200.2:c.824A>T, XM_017009200.1:c.824A>T, NM_001290360.3:c.1445A>T, NM_001290360.2:c.1445A>T, NM_001290360.1:c.1445A>T, NM_182708.3:c.1349A>T, NM_182708.2:c.1349A>T, NM_182708.1:c.1349A>T, NM_001364157.2:c.1331A>T, NM_001364157.1:c.1331A>T, NM_001364156.2:c.1328A>T, NM_001364156.1:c.1328A>T, NM_001324111.2:c.1046A>T, NM_001324111.1:c.1046A>T, NM_001324101.2:c.1445A>T, NM_001324101.1:c.1445A>T, NM_001324103.2:c.1442A>T, NM_001324103.1:c.1442A>T, NM_001324106.2:c.1418A>T, NM_001324106.1:c.1418A>T, NM_001324107.2:c.1421A>T, NM_001324107.1:c.1421A>T, NM_001324108.2:c.1418A>T, NM_001324108.1:c.1418A>T, NM_001364159.2:c.1043A>T, NM_001364159.1:c.1043A>T, NM_001364158.2:c.1019A>T, NM_001364158.1:c.1019A>T, XM_017009199.2:c.824A>T, XM_017009199.1:c.824A>T, XM_017009197.2:c.1328A>T, XM_017009197.1:c.1328A>T, XM_017009194.2:c.1421A>T, XM_017009194.1:c.1421A>T, XM_024454390.2:c.1046A>T, XM_024454390.1:c.1046A>T, XM_024454391.2:c.1046A>T, XM_024454391.1:c.1046A>T, XM_047416891.1:c.824A>T, XM_047416889.1:c.1331A>T, XM_047416890.1:c.1304A>T, XM_047416888.1:c.1304A>T, NP_076870.1:p.Tyr481Phe, XP_016864689.1:p.Tyr275Phe, NP_001277289.1:p.Tyr482Phe, NP_874367.1:p.Tyr450Phe, NP_001351086.1:p.Tyr444Phe, NP_001351085.1:p.Tyr443Phe, NP_001311040.1:p.Tyr349Phe, NP_001311030.1:p.Tyr482Phe, NP_001311032.1:p.Tyr481Phe, NP_001311035.1:p.Tyr473Phe, NP_001311036.1:p.Tyr474Phe, NP_001311037.1:p.Tyr473Phe, NP_001351088.1:p.Tyr348Phe, NP_001351087.1:p.Tyr340Phe, XP_016864688.1:p.Tyr275Phe, XP_016864686.1:p.Tyr443Phe, XP_016864683.1:p.Tyr474Phe, XP_024310158.1:p.Tyr349Phe, XP_024310159.1:p.Tyr349Phe, XP_047272847.1:p.Tyr275Phe, XP_047272845.1:p.Tyr444Phe, XP_047272846.1:p.Tyr435Phe, XP_047272844.1:p.Tyr435Phe

      3.

      rs1483534087 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        5:158796414 (GRCh38)
        5:158223422 (GRCh37)
        Canonical SPDI:
        NC_000005.10:158796413:C:T
        Gene:
        EBF1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000005.10:g.158796414C>T, NC_000005.9:g.158223422C>T, NM_024007.5:c.840G>A, NM_024007.4:c.840G>A, NM_024007.3:c.840G>A, XM_017009200.3:c.222G>A, XM_017009200.2:c.222G>A, XM_017009200.1:c.222G>A, NM_001290360.3:c.843G>A, NM_001290360.2:c.843G>A, NM_001290360.1:c.843G>A, NM_182708.3:c.747G>A, NM_182708.2:c.747G>A, NM_182708.1:c.747G>A, NM_001364157.2:c.729G>A, NM_001364157.1:c.729G>A, NM_001364156.2:c.726G>A, NM_001364156.1:c.726G>A, NM_001324111.2:c.444G>A, NM_001324111.1:c.444G>A, NM_001324101.2:c.843G>A, NM_001324101.1:c.843G>A, NM_001324103.2:c.840G>A, NM_001324103.1:c.840G>A, NM_001324106.2:c.816G>A, NM_001324106.1:c.816G>A, NM_001324107.2:c.819G>A, NM_001324107.1:c.819G>A, NM_001324108.2:c.816G>A, NM_001324108.1:c.816G>A, NM_001364159.2:c.441G>A, NM_001364159.1:c.441G>A, NM_001364158.2:c.417G>A, NM_001364158.1:c.417G>A, NM_001324109.2:c.843G>A, NM_001324109.1:c.843G>A, NM_001364155.2:c.840G>A, NM_001364155.1:c.840G>A, XM_017009199.2:c.222G>A, XM_017009199.1:c.222G>A, XM_017009197.2:c.726G>A, XM_017009197.1:c.726G>A, XM_017009194.2:c.819G>A, XM_017009194.1:c.819G>A, XM_024454390.2:c.444G>A, XM_024454390.1:c.444G>A, XM_017009202.2:c.843G>A, XM_017009202.1:c.843G>A, XM_017009203.2:c.840G>A, XM_017009203.1:c.840G>A, XM_024454391.2:c.444G>A, XM_024454391.1:c.444G>A, XM_047416891.1:c.222G>A, XM_047416889.1:c.729G>A, XM_047416890.1:c.702G>A, XM_047416888.1:c.702G>A, XM_047416892.1:c.702G>A

        4.

        rs1472494756 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:158823303 (GRCh38)
          5:158250311 (GRCh37)
          Canonical SPDI:
          NC_000005.10:158823302:C:T
          Gene:
          EBF1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          T=0.000035/1 (TOMMO)
          HGVS:
          NC_000005.10:g.158823303C>T, NC_000005.9:g.158250311C>T, NM_024007.5:c.651G>A, NM_024007.4:c.651G>A, NM_024007.3:c.651G>A, XM_017009200.3:c.30G>A, XM_017009200.2:c.30G>A, XM_017009200.1:c.30G>A, NM_001290360.3:c.651G>A, NM_001290360.2:c.651G>A, NM_001290360.1:c.651G>A, NM_182708.3:c.582G>A, NM_182708.2:c.582G>A, NM_182708.1:c.582G>A, NM_001364157.2:c.537G>A, NM_001364157.1:c.537G>A, NM_001364156.2:c.537G>A, NM_001364156.1:c.537G>A, NM_001324111.2:c.252G>A, NM_001324111.1:c.252G>A, NM_001324101.2:c.651G>A, NM_001324101.1:c.651G>A, NM_001324103.2:c.651G>A, NM_001324103.1:c.651G>A, NM_001324106.2:c.651G>A, NM_001324106.1:c.651G>A, NM_001324107.2:c.651G>A, NM_001324107.1:c.651G>A, NM_001324108.2:c.651G>A, NM_001324108.1:c.651G>A, NM_001364159.2:c.252G>A, NM_001364159.1:c.252G>A, NM_001364158.2:c.252G>A, NM_001364158.1:c.252G>A, NM_001324109.2:c.651G>A, NM_001324109.1:c.651G>A, NM_001364155.2:c.651G>A, NM_001364155.1:c.651G>A, XM_017009199.2:c.30G>A, XM_017009199.1:c.30G>A, XM_017009197.2:c.537G>A, XM_017009197.1:c.537G>A, XM_017009194.2:c.651G>A, XM_017009194.1:c.651G>A, XM_024454390.2:c.252G>A, XM_024454390.1:c.252G>A, XM_017009202.2:c.651G>A, XM_017009202.1:c.651G>A, XM_017009203.2:c.651G>A, XM_017009203.1:c.651G>A, XM_024454391.2:c.252G>A, XM_024454391.1:c.252G>A, XM_047416891.1:c.30G>A, XM_047416889.1:c.537G>A, XM_047416890.1:c.537G>A, XM_047416888.1:c.537G>A, XM_047416892.1:c.537G>A

          5.

          rs1469667422 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            5:158708094 (GRCh38)
            5:158135102 (GRCh37)
            Canonical SPDI:
            NC_000005.10:158708093:G:A
            Gene:
            EBF1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000011/3 (TOPMED)
            A=0.000177/3 (TOMMO)
            HGVS:
            NC_000005.10:g.158708094G>A, NC_000005.9:g.158135102G>A, NM_024007.5:c.1629C>T, NM_024007.4:c.1629C>T, NM_024007.3:c.1629C>T, XM_017009200.3:c.1011C>T, XM_017009200.2:c.1011C>T, XM_017009200.1:c.1011C>T, NM_001290360.3:c.1632C>T, NM_001290360.2:c.1632C>T, NM_001290360.1:c.1632C>T, NM_182708.3:c.1536C>T, NM_182708.2:c.1536C>T, NM_182708.1:c.1536C>T, NM_001364157.2:c.1518C>T, NM_001364157.1:c.1518C>T, NM_001364156.2:c.1515C>T, NM_001364156.1:c.1515C>T, NM_001324111.2:c.1233C>T, NM_001324111.1:c.1233C>T, NM_001324101.2:c.1632C>T, NM_001324101.1:c.1632C>T, NM_001324103.2:c.1629C>T, NM_001324103.1:c.1629C>T, NM_001324106.2:c.1605C>T, NM_001324106.1:c.1605C>T, NM_001324107.2:c.1608C>T, NM_001324107.1:c.1608C>T, NM_001324108.2:c.1605C>T, NM_001324108.1:c.1605C>T, NM_001364159.2:c.1230C>T, NM_001364159.1:c.1230C>T, NM_001364158.2:c.1206C>T, NM_001364158.1:c.1206C>T, NM_001324109.2:c.1452C>T, NM_001324109.1:c.1452C>T, NM_001364155.2:c.1449C>T, NM_001364155.1:c.1449C>T, XM_017009199.2:c.1011C>T, XM_017009199.1:c.1011C>T, XM_017009197.2:c.1515C>T, XM_017009197.1:c.1515C>T, XM_017009194.2:c.1608C>T, XM_017009194.1:c.1608C>T, XM_024454390.2:c.1233C>T, XM_024454390.1:c.1233C>T, XM_024454391.2:c.1233C>T, XM_024454391.1:c.1233C>T, XM_047416891.1:c.1011C>T, XM_047416889.1:c.1518C>T, XM_047416890.1:c.1491C>T, XM_047416888.1:c.1491C>T

            6.

            rs1469210156 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:158712267 (GRCh38)
              5:158139275 (GRCh37)
              Canonical SPDI:
              NC_000005.10:158712266:G:A
              Gene:
              EBF1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
              HGVS:
              NC_000005.10:g.158712267G>A, NC_000005.9:g.158139275G>A, NM_024007.5:c.1436C>T, NM_024007.4:c.1436C>T, NM_024007.3:c.1436C>T, XM_017009200.3:c.818C>T, XM_017009200.2:c.818C>T, XM_017009200.1:c.818C>T, NM_001290360.3:c.1439C>T, NM_001290360.2:c.1439C>T, NM_001290360.1:c.1439C>T, NM_182708.3:c.1343C>T, NM_182708.2:c.1343C>T, NM_182708.1:c.1343C>T, NM_001364157.2:c.1325C>T, NM_001364157.1:c.1325C>T, NM_001364156.2:c.1322C>T, NM_001364156.1:c.1322C>T, NM_001324111.2:c.1040C>T, NM_001324111.1:c.1040C>T, NM_001324101.2:c.1439C>T, NM_001324101.1:c.1439C>T, NM_001324103.2:c.1436C>T, NM_001324103.1:c.1436C>T, NM_001324106.2:c.1412C>T, NM_001324106.1:c.1412C>T, NM_001324107.2:c.1415C>T, NM_001324107.1:c.1415C>T, NM_001324108.2:c.1412C>T, NM_001324108.1:c.1412C>T, NM_001364159.2:c.1037C>T, NM_001364159.1:c.1037C>T, NM_001364158.2:c.1013C>T, NM_001364158.1:c.1013C>T, XM_017009199.2:c.818C>T, XM_017009199.1:c.818C>T, XM_017009197.2:c.1322C>T, XM_017009197.1:c.1322C>T, XM_017009194.2:c.1415C>T, XM_017009194.1:c.1415C>T, XM_024454390.2:c.1040C>T, XM_024454390.1:c.1040C>T, XM_024454391.2:c.1040C>T, XM_024454391.1:c.1040C>T, XM_047416891.1:c.818C>T, XM_047416889.1:c.1325C>T, XM_047416890.1:c.1298C>T, XM_047416888.1:c.1298C>T, NP_076870.1:p.Thr479Ile, XP_016864689.1:p.Thr273Ile, NP_001277289.1:p.Thr480Ile, NP_874367.1:p.Thr448Ile, NP_001351086.1:p.Thr442Ile, NP_001351085.1:p.Thr441Ile, NP_001311040.1:p.Thr347Ile, NP_001311030.1:p.Thr480Ile, NP_001311032.1:p.Thr479Ile, NP_001311035.1:p.Thr471Ile, NP_001311036.1:p.Thr472Ile, NP_001311037.1:p.Thr471Ile, NP_001351088.1:p.Thr346Ile, NP_001351087.1:p.Thr338Ile, XP_016864688.1:p.Thr273Ile, XP_016864686.1:p.Thr441Ile, XP_016864683.1:p.Thr472Ile, XP_024310158.1:p.Thr347Ile, XP_024310159.1:p.Thr347Ile, XP_047272847.1:p.Thr273Ile, XP_047272845.1:p.Thr442Ile, XP_047272846.1:p.Thr433Ile, XP_047272844.1:p.Thr433Ile

              7.

              rs1463926430 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:158823177 (GRCh38)
                5:158250185 (GRCh37)
                Canonical SPDI:
                NC_000005.10:158823176:A:G
                Gene:
                EBF1 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000005.10:g.158823177A>G, NC_000005.9:g.158250185A>G, NM_024007.5:c.777T>C, NM_024007.4:c.777T>C, NM_024007.3:c.777T>C, XM_017009200.3:c.156T>C, XM_017009200.2:c.156T>C, XM_017009200.1:c.156T>C, NM_001290360.3:c.777T>C, NM_001290360.2:c.777T>C, NM_001290360.1:c.777T>C, NM_001364157.2:c.663T>C, NM_001364157.1:c.663T>C, NM_001364156.2:c.663T>C, NM_001364156.1:c.663T>C, NM_001324111.2:c.378T>C, NM_001324111.1:c.378T>C, NM_001324101.2:c.777T>C, NM_001324101.1:c.777T>C, NM_001324103.2:c.777T>C, NM_001324103.1:c.777T>C, NM_001364159.2:c.378T>C, NM_001364159.1:c.378T>C, NM_001324109.2:c.777T>C, NM_001324109.1:c.777T>C, NM_001364155.2:c.777T>C, NM_001364155.1:c.777T>C, XM_017009199.2:c.156T>C, XM_017009199.1:c.156T>C, XM_017009197.2:c.663T>C, XM_017009197.1:c.663T>C, XM_024454390.2:c.378T>C, XM_024454390.1:c.378T>C, XM_017009202.2:c.777T>C, XM_017009202.1:c.777T>C, XM_017009203.2:c.777T>C, XM_017009203.1:c.777T>C, XM_024454391.2:c.378T>C, XM_024454391.1:c.378T>C, XM_047416891.1:c.156T>C, XM_047416889.1:c.663T>C

                8.

                rs1463414189 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  5:158713108 (GRCh38)
                  5:158140116 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:158713107:G:A,NC_000005.10:158713107:G:C
                  Gene:
                  EBF1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000048/1 (ALFA)
                  C=0.000005/1 (GnomAD_exomes)
                  A=0.00006/1 (TOMMO)
                  HGVS:
                  NC_000005.10:g.158713108G>A, NC_000005.10:g.158713108G>C, NC_000005.9:g.158140116G>A, NC_000005.9:g.158140116G>C, NM_024007.5:c.1231C>T, NM_024007.5:c.1231C>G, NM_024007.4:c.1231C>T, NM_024007.4:c.1231C>G, NM_024007.3:c.1231C>T, NM_024007.3:c.1231C>G, XM_017009200.3:c.613C>T, XM_017009200.3:c.613C>G, XM_017009200.2:c.613C>T, XM_017009200.2:c.613C>G, XM_017009200.1:c.613C>T, XM_017009200.1:c.613C>G, NM_001290360.3:c.1234C>T, NM_001290360.3:c.1234C>G, NM_001290360.2:c.1234C>T, NM_001290360.2:c.1234C>G, NM_001290360.1:c.1234C>T, NM_001290360.1:c.1234C>G, NM_182708.3:c.1138C>T, NM_182708.3:c.1138C>G, NM_182708.2:c.1138C>T, NM_182708.2:c.1138C>G, NM_182708.1:c.1138C>T, NM_182708.1:c.1138C>G, NM_001364157.2:c.1120C>T, NM_001364157.2:c.1120C>G, NM_001364157.1:c.1120C>T, NM_001364157.1:c.1120C>G, NM_001364156.2:c.1117C>T, NM_001364156.2:c.1117C>G, NM_001364156.1:c.1117C>T, NM_001364156.1:c.1117C>G, NM_001324111.2:c.835C>T, NM_001324111.2:c.835C>G, NM_001324111.1:c.835C>T, NM_001324111.1:c.835C>G, NM_001324101.2:c.1234C>T, NM_001324101.2:c.1234C>G, NM_001324101.1:c.1234C>T, NM_001324101.1:c.1234C>G, NM_001324103.2:c.1231C>T, NM_001324103.2:c.1231C>G, NM_001324103.1:c.1231C>T, NM_001324103.1:c.1231C>G, NM_001324106.2:c.1207C>T, NM_001324106.2:c.1207C>G, NM_001324106.1:c.1207C>T, NM_001324106.1:c.1207C>G, NM_001324107.2:c.1210C>T, NM_001324107.2:c.1210C>G, NM_001324107.1:c.1210C>T, NM_001324107.1:c.1210C>G, NM_001324108.2:c.1207C>T, NM_001324108.2:c.1207C>G, NM_001324108.1:c.1207C>T, NM_001324108.1:c.1207C>G, NM_001364159.2:c.832C>T, NM_001364159.2:c.832C>G, NM_001364159.1:c.832C>T, NM_001364159.1:c.832C>G, NM_001364158.2:c.808C>T, NM_001364158.2:c.808C>G, NM_001364158.1:c.808C>T, NM_001364158.1:c.808C>G, NM_001324109.2:c.1234C>T, NM_001324109.2:c.1234C>G, NM_001324109.1:c.1234C>T, NM_001324109.1:c.1234C>G, NM_001364155.2:c.1231C>T, NM_001364155.2:c.1231C>G, NM_001364155.1:c.1231C>T, NM_001364155.1:c.1231C>G, XM_017009199.2:c.613C>T, XM_017009199.2:c.613C>G, XM_017009199.1:c.613C>T, XM_017009199.1:c.613C>G, XM_017009197.2:c.1117C>T, XM_017009197.2:c.1117C>G, XM_017009197.1:c.1117C>T, XM_017009197.1:c.1117C>G, XM_017009194.2:c.1210C>T, XM_017009194.2:c.1210C>G, XM_017009194.1:c.1210C>T, XM_017009194.1:c.1210C>G, XM_024454390.2:c.835C>T, XM_024454390.2:c.835C>G, XM_024454390.1:c.835C>T, XM_024454390.1:c.835C>G, XM_024454391.2:c.835C>T, XM_024454391.2:c.835C>G, XM_024454391.1:c.835C>T, XM_024454391.1:c.835C>G, XM_047416891.1:c.613C>T, XM_047416891.1:c.613C>G, XM_047416889.1:c.1120C>T, XM_047416889.1:c.1120C>G, XM_047416890.1:c.1093C>T, XM_047416890.1:c.1093C>G, XM_047416888.1:c.1093C>T, XM_047416888.1:c.1093C>G, NP_076870.1:p.Leu411Val, XP_016864689.1:p.Leu205Val, NP_001277289.1:p.Leu412Val, NP_874367.1:p.Leu380Val, NP_001351086.1:p.Leu374Val, NP_001351085.1:p.Leu373Val, NP_001311040.1:p.Leu279Val, NP_001311030.1:p.Leu412Val, NP_001311032.1:p.Leu411Val, NP_001311035.1:p.Leu403Val, NP_001311036.1:p.Leu404Val, NP_001311037.1:p.Leu403Val, NP_001351088.1:p.Leu278Val, NP_001351087.1:p.Leu270Val, NP_001311038.1:p.Leu412Val, NP_001351084.1:p.Leu411Val, XP_016864688.1:p.Leu205Val, XP_016864686.1:p.Leu373Val, XP_016864683.1:p.Leu404Val, XP_024310158.1:p.Leu279Val, XP_024310159.1:p.Leu279Val, XP_047272847.1:p.Leu205Val, XP_047272845.1:p.Leu374Val, XP_047272846.1:p.Leu365Val, XP_047272844.1:p.Leu365Val

                  9.

                  rs1463342474 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:158823197 (GRCh38)
                    5:158250205 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:158823196:T:C
                    Gene:
                    EBF1 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000005.10:g.158823197T>C, NC_000005.9:g.158250205T>C, NM_024007.5:c.757A>G, NM_024007.4:c.757A>G, NM_024007.3:c.757A>G, XM_017009200.3:c.136A>G, XM_017009200.2:c.136A>G, XM_017009200.1:c.136A>G, NM_001290360.3:c.757A>G, NM_001290360.2:c.757A>G, NM_001290360.1:c.757A>G, NM_001364157.2:c.643A>G, NM_001364157.1:c.643A>G, NM_001364156.2:c.643A>G, NM_001364156.1:c.643A>G, NM_001324111.2:c.358A>G, NM_001324111.1:c.358A>G, NM_001324101.2:c.757A>G, NM_001324101.1:c.757A>G, NM_001324103.2:c.757A>G, NM_001324103.1:c.757A>G, NM_001364159.2:c.358A>G, NM_001364159.1:c.358A>G, NM_001324109.2:c.757A>G, NM_001324109.1:c.757A>G, NM_001364155.2:c.757A>G, NM_001364155.1:c.757A>G, XM_017009199.2:c.136A>G, XM_017009199.1:c.136A>G, XM_017009197.2:c.643A>G, XM_017009197.1:c.643A>G, XM_024454390.2:c.358A>G, XM_024454390.1:c.358A>G, XM_017009202.2:c.757A>G, XM_017009202.1:c.757A>G, XM_017009203.2:c.757A>G, XM_017009203.1:c.757A>G, XM_024454391.2:c.358A>G, XM_024454391.1:c.358A>G, XM_047416891.1:c.136A>G, XM_047416889.1:c.643A>G, NP_076870.1:p.Thr253Ala, XP_016864689.1:p.Thr46Ala, NP_001277289.1:p.Thr253Ala, NP_001351086.1:p.Thr215Ala, NP_001351085.1:p.Thr215Ala, NP_001311040.1:p.Thr120Ala, NP_001311030.1:p.Thr253Ala, NP_001311032.1:p.Thr253Ala, NP_001351088.1:p.Thr120Ala, NP_001311038.1:p.Thr253Ala, NP_001351084.1:p.Thr253Ala, XP_016864688.1:p.Thr46Ala, XP_016864686.1:p.Thr215Ala, XP_024310158.1:p.Thr120Ala, XP_016864691.1:p.Thr253Ala, XP_016864692.1:p.Thr253Ala, XP_024310159.1:p.Thr120Ala, XP_047272847.1:p.Thr46Ala, XP_047272845.1:p.Thr215Ala

                    10.

                    rs1462593372 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:158796363 (GRCh38)
                      5:158223371 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:158796362:G:A
                      Gene:
                      EBF1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000005.10:g.158796363G>A, NC_000005.9:g.158223371G>A, NM_024007.5:c.891C>T, NM_024007.4:c.891C>T, NM_024007.3:c.891C>T, XM_017009200.3:c.273C>T, XM_017009200.2:c.273C>T, XM_017009200.1:c.273C>T, NM_001290360.3:c.894C>T, NM_001290360.2:c.894C>T, NM_001290360.1:c.894C>T, NM_182708.3:c.798C>T, NM_182708.2:c.798C>T, NM_182708.1:c.798C>T, NM_001364157.2:c.780C>T, NM_001364157.1:c.780C>T, NM_001364156.2:c.777C>T, NM_001364156.1:c.777C>T, NM_001324111.2:c.495C>T, NM_001324111.1:c.495C>T, NM_001324101.2:c.894C>T, NM_001324101.1:c.894C>T, NM_001324103.2:c.891C>T, NM_001324103.1:c.891C>T, NM_001324106.2:c.867C>T, NM_001324106.1:c.867C>T, NM_001324107.2:c.870C>T, NM_001324107.1:c.870C>T, NM_001324108.2:c.867C>T, NM_001324108.1:c.867C>T, NM_001364159.2:c.492C>T, NM_001364159.1:c.492C>T, NM_001364158.2:c.468C>T, NM_001364158.1:c.468C>T, NM_001324109.2:c.894C>T, NM_001324109.1:c.894C>T, NM_001364155.2:c.891C>T, NM_001364155.1:c.891C>T, XM_017009199.2:c.273C>T, XM_017009199.1:c.273C>T, XM_017009197.2:c.777C>T, XM_017009197.1:c.777C>T, XM_017009194.2:c.870C>T, XM_017009194.1:c.870C>T, XM_024454390.2:c.495C>T, XM_024454390.1:c.495C>T, XM_017009202.2:c.894C>T, XM_017009202.1:c.894C>T, XM_017009203.2:c.891C>T, XM_017009203.1:c.891C>T, XM_024454391.2:c.495C>T, XM_024454391.1:c.495C>T, XM_047416891.1:c.273C>T, XM_047416889.1:c.780C>T, XM_047416890.1:c.753C>T, XM_047416888.1:c.753C>T, XM_047416892.1:c.753C>T

                      11.

                      rs1453993918 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        5:158712285 (GRCh38)
                        5:158139293 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:158712284:C:A,NC_000005.10:158712284:C:T
                        Gene:
                        EBF1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by cluster
                        HGVS:
                        NC_000005.10:g.158712285C>A, NC_000005.10:g.158712285C>T, NC_000005.9:g.158139293C>A, NC_000005.9:g.158139293C>T, NM_024007.5:c.1418G>T, NM_024007.5:c.1418G>A, NM_024007.4:c.1418G>T, NM_024007.4:c.1418G>A, NM_024007.3:c.1418G>T, NM_024007.3:c.1418G>A, XM_017009200.3:c.800G>T, XM_017009200.3:c.800G>A, XM_017009200.2:c.800G>T, XM_017009200.2:c.800G>A, XM_017009200.1:c.800G>T, XM_017009200.1:c.800G>A, NM_001290360.3:c.1421G>T, NM_001290360.3:c.1421G>A, NM_001290360.2:c.1421G>T, NM_001290360.2:c.1421G>A, NM_001290360.1:c.1421G>T, NM_001290360.1:c.1421G>A, NM_182708.3:c.1325G>T, NM_182708.3:c.1325G>A, NM_182708.2:c.1325G>T, NM_182708.2:c.1325G>A, NM_182708.1:c.1325G>T, NM_182708.1:c.1325G>A, NM_001364157.2:c.1307G>T, NM_001364157.2:c.1307G>A, NM_001364157.1:c.1307G>T, NM_001364157.1:c.1307G>A, NM_001364156.2:c.1304G>T, NM_001364156.2:c.1304G>A, NM_001364156.1:c.1304G>T, NM_001364156.1:c.1304G>A, NM_001324111.2:c.1022G>T, NM_001324111.2:c.1022G>A, NM_001324111.1:c.1022G>T, NM_001324111.1:c.1022G>A, NM_001324101.2:c.1421G>T, NM_001324101.2:c.1421G>A, NM_001324101.1:c.1421G>T, NM_001324101.1:c.1421G>A, NM_001324103.2:c.1418G>T, NM_001324103.2:c.1418G>A, NM_001324103.1:c.1418G>T, NM_001324103.1:c.1418G>A, NM_001324106.2:c.1394G>T, NM_001324106.2:c.1394G>A, NM_001324106.1:c.1394G>T, NM_001324106.1:c.1394G>A, NM_001324107.2:c.1397G>T, NM_001324107.2:c.1397G>A, NM_001324107.1:c.1397G>T, NM_001324107.1:c.1397G>A, NM_001324108.2:c.1394G>T, NM_001324108.2:c.1394G>A, NM_001324108.1:c.1394G>T, NM_001324108.1:c.1394G>A, NM_001364159.2:c.1019G>T, NM_001364159.2:c.1019G>A, NM_001364159.1:c.1019G>T, NM_001364159.1:c.1019G>A, NM_001364158.2:c.995G>T, NM_001364158.2:c.995G>A, NM_001364158.1:c.995G>T, NM_001364158.1:c.995G>A, XM_017009199.2:c.800G>T, XM_017009199.2:c.800G>A, XM_017009199.1:c.800G>T, XM_017009199.1:c.800G>A, XM_017009197.2:c.1304G>T, XM_017009197.2:c.1304G>A, XM_017009197.1:c.1304G>T, XM_017009197.1:c.1304G>A, XM_017009194.2:c.1397G>T, XM_017009194.2:c.1397G>A, XM_017009194.1:c.1397G>T, XM_017009194.1:c.1397G>A, XM_024454390.2:c.1022G>T, XM_024454390.2:c.1022G>A, XM_024454390.1:c.1022G>T, XM_024454390.1:c.1022G>A, XM_024454391.2:c.1022G>T, XM_024454391.2:c.1022G>A, XM_024454391.1:c.1022G>T, XM_024454391.1:c.1022G>A, XM_047416891.1:c.800G>T, XM_047416891.1:c.800G>A, XM_047416889.1:c.1307G>T, XM_047416889.1:c.1307G>A, XM_047416890.1:c.1280G>T, XM_047416890.1:c.1280G>A, XM_047416888.1:c.1280G>T, XM_047416888.1:c.1280G>A, NP_076870.1:p.Ser473Ile, NP_076870.1:p.Ser473Asn, XP_016864689.1:p.Ser267Ile, XP_016864689.1:p.Ser267Asn, NP_001277289.1:p.Ser474Ile, NP_001277289.1:p.Ser474Asn, NP_874367.1:p.Ser442Ile, NP_874367.1:p.Ser442Asn, NP_001351086.1:p.Ser436Ile, NP_001351086.1:p.Ser436Asn, NP_001351085.1:p.Ser435Ile, NP_001351085.1:p.Ser435Asn, NP_001311040.1:p.Ser341Ile, NP_001311040.1:p.Ser341Asn, NP_001311030.1:p.Ser474Ile, NP_001311030.1:p.Ser474Asn, NP_001311032.1:p.Ser473Ile, NP_001311032.1:p.Ser473Asn, NP_001311035.1:p.Ser465Ile, NP_001311035.1:p.Ser465Asn, NP_001311036.1:p.Ser466Ile, NP_001311036.1:p.Ser466Asn, NP_001311037.1:p.Ser465Ile, NP_001311037.1:p.Ser465Asn, NP_001351088.1:p.Ser340Ile, NP_001351088.1:p.Ser340Asn, NP_001351087.1:p.Ser332Ile, NP_001351087.1:p.Ser332Asn, XP_016864688.1:p.Ser267Ile, XP_016864688.1:p.Ser267Asn, XP_016864686.1:p.Ser435Ile, XP_016864686.1:p.Ser435Asn, XP_016864683.1:p.Ser466Ile, XP_016864683.1:p.Ser466Asn, XP_024310158.1:p.Ser341Ile, XP_024310158.1:p.Ser341Asn, XP_024310159.1:p.Ser341Ile, XP_024310159.1:p.Ser341Asn, XP_047272847.1:p.Ser267Ile, XP_047272847.1:p.Ser267Asn, XP_047272845.1:p.Ser436Ile, XP_047272845.1:p.Ser436Asn, XP_047272846.1:p.Ser427Ile, XP_047272846.1:p.Ser427Asn, XP_047272844.1:p.Ser427Ile, XP_047272844.1:p.Ser427Asn

                        12.

                        rs1451669362 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          5:158712291 (GRCh38)
                          5:158139299 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:158712290:A:C
                          Gene:
                          EBF1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.158712291A>C, NC_000005.9:g.158139299A>C, NM_024007.5:c.1412T>G, NM_024007.4:c.1412T>G, NM_024007.3:c.1412T>G, XM_017009200.3:c.794T>G, XM_017009200.2:c.794T>G, XM_017009200.1:c.794T>G, NM_001290360.3:c.1415T>G, NM_001290360.2:c.1415T>G, NM_001290360.1:c.1415T>G, NM_182708.3:c.1319T>G, NM_182708.2:c.1319T>G, NM_182708.1:c.1319T>G, NM_001364157.2:c.1301T>G, NM_001364157.1:c.1301T>G, NM_001364156.2:c.1298T>G, NM_001364156.1:c.1298T>G, NM_001324111.2:c.1016T>G, NM_001324111.1:c.1016T>G, NM_001324101.2:c.1415T>G, NM_001324101.1:c.1415T>G, NM_001324103.2:c.1412T>G, NM_001324103.1:c.1412T>G, NM_001324106.2:c.1388T>G, NM_001324106.1:c.1388T>G, NM_001324107.2:c.1391T>G, NM_001324107.1:c.1391T>G, NM_001324108.2:c.1388T>G, NM_001324108.1:c.1388T>G, NM_001364159.2:c.1013T>G, NM_001364159.1:c.1013T>G, NM_001364158.2:c.989T>G, NM_001364158.1:c.989T>G, XM_017009199.2:c.794T>G, XM_017009199.1:c.794T>G, XM_017009197.2:c.1298T>G, XM_017009197.1:c.1298T>G, XM_017009194.2:c.1391T>G, XM_017009194.1:c.1391T>G, XM_024454390.2:c.1016T>G, XM_024454390.1:c.1016T>G, XM_024454391.2:c.1016T>G, XM_024454391.1:c.1016T>G, XM_047416891.1:c.794T>G, XM_047416889.1:c.1301T>G, XM_047416890.1:c.1274T>G, XM_047416888.1:c.1274T>G, NP_076870.1:p.Val471Gly, XP_016864689.1:p.Val265Gly, NP_001277289.1:p.Val472Gly, NP_874367.1:p.Val440Gly, NP_001351086.1:p.Val434Gly, NP_001351085.1:p.Val433Gly, NP_001311040.1:p.Val339Gly, NP_001311030.1:p.Val472Gly, NP_001311032.1:p.Val471Gly, NP_001311035.1:p.Val463Gly, NP_001311036.1:p.Val464Gly, NP_001311037.1:p.Val463Gly, NP_001351088.1:p.Val338Gly, NP_001351087.1:p.Val330Gly, XP_016864688.1:p.Val265Gly, XP_016864686.1:p.Val433Gly, XP_016864683.1:p.Val464Gly, XP_024310158.1:p.Val339Gly, XP_024310159.1:p.Val339Gly, XP_047272847.1:p.Val265Gly, XP_047272845.1:p.Val434Gly, XP_047272846.1:p.Val425Gly, XP_047272844.1:p.Val425Gly

                          13.

                          rs1448425178 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            5:158707586 (GRCh38)
                            5:158134594 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:158707585:C:G
                            Gene:
                            EBF1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000005.10:g.158707586C>G, NC_000005.9:g.158134594C>G, XM_017009200.3:c.1177G>C, XM_017009200.2:c.1177G>C, XM_017009200.1:c.1177G>C, NM_001364157.2:c.1684G>C, NM_001364157.1:c.1684G>C, NM_001324101.2:c.1798G>C, NM_001324101.1:c.1798G>C, NM_001324103.2:c.1795G>C, NM_001324103.1:c.1795G>C, NM_001324106.2:c.1771G>C, NM_001324106.1:c.1771G>C, NM_001324109.2:c.1618G>C, NM_001324109.1:c.1618G>C, XM_017009199.2:c.1177G>C, XM_017009199.1:c.1177G>C, XM_017009197.2:c.1681G>C, XM_017009197.1:c.1681G>C, XM_017009194.2:c.1774G>C, XM_017009194.1:c.1774G>C, XM_024454390.2:c.1399G>C, XM_024454390.1:c.1399G>C, XM_024454391.2:c.1399G>C, XM_024454391.1:c.1399G>C, XM_047416888.1:c.1657G>C, XP_016864689.1:p.Gly393Arg, NP_001351086.1:p.Gly562Arg, NP_001311030.1:p.Gly600Arg, NP_001311032.1:p.Gly599Arg, NP_001311035.1:p.Gly591Arg, NP_001311038.1:p.Gly540Arg, XP_016864688.1:p.Gly393Arg, XP_016864686.1:p.Gly561Arg, XP_016864683.1:p.Gly592Arg, XP_024310158.1:p.Gly467Arg, XP_024310159.1:p.Gly467Arg, XP_047272844.1:p.Gly553Arg

                            14.

                            rs1448249906 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              5:158823301 (GRCh38)
                              5:158250309 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:158823300:G:A
                              Gene:
                              EBF1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000005.10:g.158823301G>A, NC_000005.9:g.158250309G>A, NM_024007.5:c.653C>T, NM_024007.4:c.653C>T, NM_024007.3:c.653C>T, XM_017009200.3:c.32C>T, XM_017009200.2:c.32C>T, XM_017009200.1:c.32C>T, NM_001290360.3:c.653C>T, NM_001290360.2:c.653C>T, NM_001290360.1:c.653C>T, NM_182708.3:c.584C>T, NM_182708.2:c.584C>T, NM_182708.1:c.584C>T, NM_001364157.2:c.539C>T, NM_001364157.1:c.539C>T, NM_001364156.2:c.539C>T, NM_001364156.1:c.539C>T, NM_001324111.2:c.254C>T, NM_001324111.1:c.254C>T, NM_001324101.2:c.653C>T, NM_001324101.1:c.653C>T, NM_001324103.2:c.653C>T, NM_001324103.1:c.653C>T, NM_001324106.2:c.653C>T, NM_001324106.1:c.653C>T, NM_001324107.2:c.653C>T, NM_001324107.1:c.653C>T, NM_001324108.2:c.653C>T, NM_001324108.1:c.653C>T, NM_001364159.2:c.254C>T, NM_001364159.1:c.254C>T, NM_001364158.2:c.254C>T, NM_001364158.1:c.254C>T, NM_001324109.2:c.653C>T, NM_001324109.1:c.653C>T, NM_001364155.2:c.653C>T, NM_001364155.1:c.653C>T, XM_017009199.2:c.32C>T, XM_017009199.1:c.32C>T, XM_017009197.2:c.539C>T, XM_017009197.1:c.539C>T, XM_017009194.2:c.653C>T, XM_017009194.1:c.653C>T, XM_024454390.2:c.254C>T, XM_024454390.1:c.254C>T, XM_017009202.2:c.653C>T, XM_017009202.1:c.653C>T, XM_017009203.2:c.653C>T, XM_017009203.1:c.653C>T, XM_024454391.2:c.254C>T, XM_024454391.1:c.254C>T, XM_047416891.1:c.32C>T, XM_047416889.1:c.539C>T, XM_047416890.1:c.539C>T, XM_047416888.1:c.539C>T, XM_047416892.1:c.539C>T, NP_076870.1:p.Thr218Ile, XP_016864689.1:p.Thr11Ile, NP_001277289.1:p.Thr218Ile, NP_874367.1:p.Thr195Ile, NP_001351086.1:p.Thr180Ile, NP_001351085.1:p.Thr180Ile, NP_001311040.1:p.Thr85Ile, NP_001311030.1:p.Thr218Ile, NP_001311032.1:p.Thr218Ile, NP_001311035.1:p.Thr218Ile, NP_001311036.1:p.Thr218Ile, NP_001311037.1:p.Thr218Ile, NP_001351088.1:p.Thr85Ile, NP_001351087.1:p.Thr85Ile, NP_001311038.1:p.Thr218Ile, NP_001351084.1:p.Thr218Ile, XP_016864688.1:p.Thr11Ile, XP_016864686.1:p.Thr180Ile, XP_016864683.1:p.Thr218Ile, XP_024310158.1:p.Thr85Ile, XP_016864691.1:p.Thr218Ile, XP_016864692.1:p.Thr218Ile, XP_024310159.1:p.Thr85Ile, XP_047272847.1:p.Thr11Ile, XP_047272845.1:p.Thr180Ile, XP_047272846.1:p.Thr180Ile, XP_047272844.1:p.Thr180Ile, XP_047272848.1:p.Thr180Ile

                              15.

                              rs1446440015 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                5:158708078 (GRCh38)
                                5:158135086 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:158708077:C:A
                                Gene:
                                EBF1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000005.10:g.158708078C>A, NC_000005.9:g.158135086C>A, NM_024007.5:c.1645G>T, NM_024007.4:c.1645G>T, NM_024007.3:c.1645G>T, XM_017009200.3:c.1027G>T, XM_017009200.2:c.1027G>T, XM_017009200.1:c.1027G>T, NM_001290360.3:c.1648G>T, NM_001290360.2:c.1648G>T, NM_001290360.1:c.1648G>T, NM_182708.3:c.1552G>T, NM_182708.2:c.1552G>T, NM_182708.1:c.1552G>T, NM_001364157.2:c.1534G>T, NM_001364157.1:c.1534G>T, NM_001364156.2:c.1531G>T, NM_001364156.1:c.1531G>T, NM_001324111.2:c.1249G>T, NM_001324111.1:c.1249G>T, NM_001324101.2:c.1648G>T, NM_001324101.1:c.1648G>T, NM_001324103.2:c.1645G>T, NM_001324103.1:c.1645G>T, NM_001324106.2:c.1621G>T, NM_001324106.1:c.1621G>T, NM_001324107.2:c.1624G>T, NM_001324107.1:c.1624G>T, NM_001324108.2:c.1621G>T, NM_001324108.1:c.1621G>T, NM_001364159.2:c.1246G>T, NM_001364159.1:c.1246G>T, NM_001364158.2:c.1222G>T, NM_001364158.1:c.1222G>T, NM_001324109.2:c.1468G>T, NM_001324109.1:c.1468G>T, NM_001364155.2:c.1465G>T, NM_001364155.1:c.1465G>T, XM_017009199.2:c.1027G>T, XM_017009199.1:c.1027G>T, XM_017009197.2:c.1531G>T, XM_017009197.1:c.1531G>T, XM_017009194.2:c.1624G>T, XM_017009194.1:c.1624G>T, XM_024454390.2:c.1249G>T, XM_024454390.1:c.1249G>T, XM_024454391.2:c.1249G>T, XM_024454391.1:c.1249G>T, XM_047416891.1:c.1027G>T, XM_047416889.1:c.1534G>T, XM_047416890.1:c.1507G>T, XM_047416888.1:c.1507G>T, NP_076870.1:p.Val549Phe, XP_016864689.1:p.Val343Phe, NP_001277289.1:p.Val550Phe, NP_874367.1:p.Val518Phe, NP_001351086.1:p.Val512Phe, NP_001351085.1:p.Val511Phe, NP_001311040.1:p.Val417Phe, NP_001311030.1:p.Val550Phe, NP_001311032.1:p.Val549Phe, NP_001311035.1:p.Val541Phe, NP_001311036.1:p.Val542Phe, NP_001311037.1:p.Val541Phe, NP_001351088.1:p.Val416Phe, NP_001351087.1:p.Val408Phe, NP_001311038.1:p.Val490Phe, NP_001351084.1:p.Val489Phe, XP_016864688.1:p.Val343Phe, XP_016864686.1:p.Val511Phe, XP_016864683.1:p.Val542Phe, XP_024310158.1:p.Val417Phe, XP_024310159.1:p.Val417Phe, XP_047272847.1:p.Val343Phe, XP_047272845.1:p.Val512Phe, XP_047272846.1:p.Val503Phe, XP_047272844.1:p.Val503Phe

                                16.

                                rs1445593215 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:158708071 (GRCh38)
                                  5:158135079 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:158708070:G:A
                                  Gene:
                                  EBF1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.158708071G>A, NC_000005.9:g.158135079G>A, NM_024007.5:c.1652C>T, NM_024007.4:c.1652C>T, NM_024007.3:c.1652C>T, XM_017009200.3:c.1034C>T, XM_017009200.2:c.1034C>T, XM_017009200.1:c.1034C>T, NM_001290360.3:c.1655C>T, NM_001290360.2:c.1655C>T, NM_001290360.1:c.1655C>T, NM_182708.3:c.1559C>T, NM_182708.2:c.1559C>T, NM_182708.1:c.1559C>T, NM_001364157.2:c.1541C>T, NM_001364157.1:c.1541C>T, NM_001364156.2:c.1538C>T, NM_001364156.1:c.1538C>T, NM_001324111.2:c.1256C>T, NM_001324111.1:c.1256C>T, NM_001324101.2:c.1655C>T, NM_001324101.1:c.1655C>T, NM_001324103.2:c.1652C>T, NM_001324103.1:c.1652C>T, NM_001324106.2:c.1628C>T, NM_001324106.1:c.1628C>T, NM_001324107.2:c.1631C>T, NM_001324107.1:c.1631C>T, NM_001324108.2:c.1628C>T, NM_001324108.1:c.1628C>T, NM_001364159.2:c.1253C>T, NM_001364159.1:c.1253C>T, NM_001364158.2:c.1229C>T, NM_001364158.1:c.1229C>T, NM_001324109.2:c.1475C>T, NM_001324109.1:c.1475C>T, NM_001364155.2:c.1472C>T, NM_001364155.1:c.1472C>T, XM_017009199.2:c.1034C>T, XM_017009199.1:c.1034C>T, XM_017009197.2:c.1538C>T, XM_017009197.1:c.1538C>T, XM_017009194.2:c.1631C>T, XM_017009194.1:c.1631C>T, XM_024454390.2:c.1256C>T, XM_024454390.1:c.1256C>T, XM_024454391.2:c.1256C>T, XM_024454391.1:c.1256C>T, XM_047416891.1:c.1034C>T, XM_047416889.1:c.1541C>T, XM_047416890.1:c.1514C>T, XM_047416888.1:c.1514C>T, NP_076870.1:p.Ala551Val, XP_016864689.1:p.Ala345Val, NP_001277289.1:p.Ala552Val, NP_874367.1:p.Ala520Val, NP_001351086.1:p.Ala514Val, NP_001351085.1:p.Ala513Val, NP_001311040.1:p.Ala419Val, NP_001311030.1:p.Ala552Val, NP_001311032.1:p.Ala551Val, NP_001311035.1:p.Ala543Val, NP_001311036.1:p.Ala544Val, NP_001311037.1:p.Ala543Val, NP_001351088.1:p.Ala418Val, NP_001351087.1:p.Ala410Val, NP_001311038.1:p.Ala492Val, NP_001351084.1:p.Ala491Val, XP_016864688.1:p.Ala345Val, XP_016864686.1:p.Ala513Val, XP_016864683.1:p.Ala544Val, XP_024310158.1:p.Ala419Val, XP_024310159.1:p.Ala419Val, XP_047272847.1:p.Ala345Val, XP_047272845.1:p.Ala514Val, XP_047272846.1:p.Ala505Val, XP_047272844.1:p.Ala505Val

                                  17.

                                  rs1442881041 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    5:158713114 (GRCh38)
                                    5:158140122 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:158713113:C:G,NC_000005.10:158713113:C:T
                                    Gene:
                                    EBF1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    NC_000005.10:g.158713114C>G, NC_000005.10:g.158713114C>T, NC_000005.9:g.158140122C>G, NC_000005.9:g.158140122C>T, NM_024007.5:c.1225G>C, NM_024007.5:c.1225G>A, NM_024007.4:c.1225G>C, NM_024007.4:c.1225G>A, NM_024007.3:c.1225G>C, NM_024007.3:c.1225G>A, XM_017009200.3:c.607G>C, XM_017009200.3:c.607G>A, XM_017009200.2:c.607G>C, XM_017009200.2:c.607G>A, XM_017009200.1:c.607G>C, XM_017009200.1:c.607G>A, NM_001290360.3:c.1228G>C, NM_001290360.3:c.1228G>A, NM_001290360.2:c.1228G>C, NM_001290360.2:c.1228G>A, NM_001290360.1:c.1228G>C, NM_001290360.1:c.1228G>A, NM_182708.3:c.1132G>C, NM_182708.3:c.1132G>A, NM_182708.2:c.1132G>C, NM_182708.2:c.1132G>A, NM_182708.1:c.1132G>C, NM_182708.1:c.1132G>A, NM_001364157.2:c.1114G>C, NM_001364157.2:c.1114G>A, NM_001364157.1:c.1114G>C, NM_001364157.1:c.1114G>A, NM_001364156.2:c.1111G>C, NM_001364156.2:c.1111G>A, NM_001364156.1:c.1111G>C, NM_001364156.1:c.1111G>A, NM_001324111.2:c.829G>C, NM_001324111.2:c.829G>A, NM_001324111.1:c.829G>C, NM_001324111.1:c.829G>A, NM_001324101.2:c.1228G>C, NM_001324101.2:c.1228G>A, NM_001324101.1:c.1228G>C, NM_001324101.1:c.1228G>A, NM_001324103.2:c.1225G>C, NM_001324103.2:c.1225G>A, NM_001324103.1:c.1225G>C, NM_001324103.1:c.1225G>A, NM_001324106.2:c.1201G>C, NM_001324106.2:c.1201G>A, NM_001324106.1:c.1201G>C, NM_001324106.1:c.1201G>A, NM_001324107.2:c.1204G>C, NM_001324107.2:c.1204G>A, NM_001324107.1:c.1204G>C, NM_001324107.1:c.1204G>A, NM_001324108.2:c.1201G>C, NM_001324108.2:c.1201G>A, NM_001324108.1:c.1201G>C, NM_001324108.1:c.1201G>A, NM_001364159.2:c.826G>C, NM_001364159.2:c.826G>A, NM_001364159.1:c.826G>C, NM_001364159.1:c.826G>A, NM_001364158.2:c.802G>C, NM_001364158.2:c.802G>A, NM_001364158.1:c.802G>C, NM_001364158.1:c.802G>A, NM_001324109.2:c.1228G>C, NM_001324109.2:c.1228G>A, NM_001324109.1:c.1228G>C, NM_001324109.1:c.1228G>A, NM_001364155.2:c.1225G>C, NM_001364155.2:c.1225G>A, NM_001364155.1:c.1225G>C, NM_001364155.1:c.1225G>A, XM_017009199.2:c.607G>C, XM_017009199.2:c.607G>A, XM_017009199.1:c.607G>C, XM_017009199.1:c.607G>A, XM_017009197.2:c.1111G>C, XM_017009197.2:c.1111G>A, XM_017009197.1:c.1111G>C, XM_017009197.1:c.1111G>A, XM_017009194.2:c.1204G>C, XM_017009194.2:c.1204G>A, XM_017009194.1:c.1204G>C, XM_017009194.1:c.1204G>A, XM_024454390.2:c.829G>C, XM_024454390.2:c.829G>A, XM_024454390.1:c.829G>C, XM_024454390.1:c.829G>A, XM_024454391.2:c.829G>C, XM_024454391.2:c.829G>A, XM_024454391.1:c.829G>C, XM_024454391.1:c.829G>A, XM_047416891.1:c.607G>C, XM_047416891.1:c.607G>A, XM_047416889.1:c.1114G>C, XM_047416889.1:c.1114G>A, XM_047416890.1:c.1087G>C, XM_047416890.1:c.1087G>A, XM_047416888.1:c.1087G>C, XM_047416888.1:c.1087G>A, NP_076870.1:p.Glu409Gln, NP_076870.1:p.Glu409Lys, XP_016864689.1:p.Glu203Gln, XP_016864689.1:p.Glu203Lys, NP_001277289.1:p.Glu410Gln, NP_001277289.1:p.Glu410Lys, NP_874367.1:p.Glu378Gln, NP_874367.1:p.Glu378Lys, NP_001351086.1:p.Glu372Gln, NP_001351086.1:p.Glu372Lys, NP_001351085.1:p.Glu371Gln, NP_001351085.1:p.Glu371Lys, NP_001311040.1:p.Glu277Gln, NP_001311040.1:p.Glu277Lys, NP_001311030.1:p.Glu410Gln, NP_001311030.1:p.Glu410Lys, NP_001311032.1:p.Glu409Gln, NP_001311032.1:p.Glu409Lys, NP_001311035.1:p.Glu401Gln, NP_001311035.1:p.Glu401Lys, NP_001311036.1:p.Glu402Gln, NP_001311036.1:p.Glu402Lys, NP_001311037.1:p.Glu401Gln, NP_001311037.1:p.Glu401Lys, NP_001351088.1:p.Glu276Gln, NP_001351088.1:p.Glu276Lys, NP_001351087.1:p.Glu268Gln, NP_001351087.1:p.Glu268Lys, NP_001311038.1:p.Glu410Gln, NP_001311038.1:p.Glu410Lys, NP_001351084.1:p.Glu409Gln, NP_001351084.1:p.Glu409Lys, XP_016864688.1:p.Glu203Gln, XP_016864688.1:p.Glu203Lys, XP_016864686.1:p.Glu371Gln, XP_016864686.1:p.Glu371Lys, XP_016864683.1:p.Glu402Gln, XP_016864683.1:p.Glu402Lys, XP_024310158.1:p.Glu277Gln, XP_024310158.1:p.Glu277Lys, XP_024310159.1:p.Glu277Gln, XP_024310159.1:p.Glu277Lys, XP_047272847.1:p.Glu203Gln, XP_047272847.1:p.Glu203Lys, XP_047272845.1:p.Glu372Gln, XP_047272845.1:p.Glu372Lys, XP_047272846.1:p.Glu363Gln, XP_047272846.1:p.Glu363Lys, XP_047272844.1:p.Glu363Gln, XP_047272844.1:p.Glu363Lys

                                    18.

                                    rs1440398380 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      5:158707613 (GRCh38)
                                      5:158134621 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:158707612:T:C
                                      Gene:
                                      EBF1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000015/4 (TOPMED)
                                      C=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.158707613T>C, NC_000005.9:g.158134621T>C, XM_017009200.3:c.1150A>G, XM_017009200.2:c.1150A>G, XM_017009200.1:c.1150A>G, NM_001364157.2:c.1657A>G, NM_001364157.1:c.1657A>G, NM_001324101.2:c.1771A>G, NM_001324101.1:c.1771A>G, NM_001324103.2:c.1768A>G, NM_001324103.1:c.1768A>G, NM_001324106.2:c.1744A>G, NM_001324106.1:c.1744A>G, NM_001324109.2:c.1591A>G, NM_001324109.1:c.1591A>G, XM_017009199.2:c.1150A>G, XM_017009199.1:c.1150A>G, XM_017009197.2:c.1654A>G, XM_017009197.1:c.1654A>G, XM_017009194.2:c.1747A>G, XM_017009194.1:c.1747A>G, XM_024454390.2:c.1372A>G, XM_024454390.1:c.1372A>G, XM_024454391.2:c.1372A>G, XM_024454391.1:c.1372A>G, XM_047416888.1:c.1630A>G, XP_016864689.1:p.Lys384Glu, NP_001351086.1:p.Lys553Glu, NP_001311030.1:p.Lys591Glu, NP_001311032.1:p.Lys590Glu, NP_001311035.1:p.Lys582Glu, NP_001311038.1:p.Lys531Glu, XP_016864688.1:p.Lys384Glu, XP_016864686.1:p.Lys552Glu, XP_016864683.1:p.Lys583Glu, XP_024310158.1:p.Lys458Glu, XP_024310159.1:p.Lys458Glu, XP_047272844.1:p.Lys544Glu

                                      19.

                                      rs1439228690 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        5:158708126 (GRCh38)
                                        5:158135134 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:158708125:T:G
                                        Gene:
                                        EBF1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000014/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.158708126T>G, NC_000005.9:g.158135134T>G, NM_024007.5:c.1597A>C, NM_024007.4:c.1597A>C, NM_024007.3:c.1597A>C, XM_017009200.3:c.979A>C, XM_017009200.2:c.979A>C, XM_017009200.1:c.979A>C, NM_001290360.3:c.1600A>C, NM_001290360.2:c.1600A>C, NM_001290360.1:c.1600A>C, NM_182708.3:c.1504A>C, NM_182708.2:c.1504A>C, NM_182708.1:c.1504A>C, NM_001364157.2:c.1486A>C, NM_001364157.1:c.1486A>C, NM_001364156.2:c.1483A>C, NM_001364156.1:c.1483A>C, NM_001324111.2:c.1201A>C, NM_001324111.1:c.1201A>C, NM_001324101.2:c.1600A>C, NM_001324101.1:c.1600A>C, NM_001324103.2:c.1597A>C, NM_001324103.1:c.1597A>C, NM_001324106.2:c.1573A>C, NM_001324106.1:c.1573A>C, NM_001324107.2:c.1576A>C, NM_001324107.1:c.1576A>C, NM_001324108.2:c.1573A>C, NM_001324108.1:c.1573A>C, NM_001364159.2:c.1198A>C, NM_001364159.1:c.1198A>C, NM_001364158.2:c.1174A>C, NM_001364158.1:c.1174A>C, NM_001324109.2:c.1420A>C, NM_001324109.1:c.1420A>C, NM_001364155.2:c.1417A>C, NM_001364155.1:c.1417A>C, XM_017009199.2:c.979A>C, XM_017009199.1:c.979A>C, XM_017009197.2:c.1483A>C, XM_017009197.1:c.1483A>C, XM_017009194.2:c.1576A>C, XM_017009194.1:c.1576A>C, XM_024454390.2:c.1201A>C, XM_024454390.1:c.1201A>C, XM_024454391.2:c.1201A>C, XM_024454391.1:c.1201A>C, XM_047416891.1:c.979A>C, XM_047416889.1:c.1486A>C, XM_047416890.1:c.1459A>C, XM_047416888.1:c.1459A>C, NP_076870.1:p.Asn533His, XP_016864689.1:p.Asn327His, NP_001277289.1:p.Asn534His, NP_874367.1:p.Asn502His, NP_001351086.1:p.Asn496His, NP_001351085.1:p.Asn495His, NP_001311040.1:p.Asn401His, NP_001311030.1:p.Asn534His, NP_001311032.1:p.Asn533His, NP_001311035.1:p.Asn525His, NP_001311036.1:p.Asn526His, NP_001311037.1:p.Asn525His, NP_001351088.1:p.Asn400His, NP_001351087.1:p.Asn392His, NP_001311038.1:p.Asn474His, NP_001351084.1:p.Asn473His, XP_016864688.1:p.Asn327His, XP_016864686.1:p.Asn495His, XP_016864683.1:p.Asn526His, XP_024310158.1:p.Asn401His, XP_024310159.1:p.Asn401His, XP_047272847.1:p.Asn327His, XP_047272845.1:p.Asn496His, XP_047272846.1:p.Asn487His, XP_047272844.1:p.Asn487His

                                        20.

                                        rs1436085936 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:158713069 (GRCh38)
                                          5:158140077 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:158713068:G:A
                                          Gene:
                                          EBF1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000005.10:g.158713069G>A, NC_000005.9:g.158140077G>A, NM_024007.5:c.1270C>T, NM_024007.4:c.1270C>T, NM_024007.3:c.1270C>T, XM_017009200.3:c.652C>T, XM_017009200.2:c.652C>T, XM_017009200.1:c.652C>T, NM_001290360.3:c.1273C>T, NM_001290360.2:c.1273C>T, NM_001290360.1:c.1273C>T, NM_182708.3:c.1177C>T, NM_182708.2:c.1177C>T, NM_182708.1:c.1177C>T, NM_001364157.2:c.1159C>T, NM_001364157.1:c.1159C>T, NM_001364156.2:c.1156C>T, NM_001364156.1:c.1156C>T, NM_001324111.2:c.874C>T, NM_001324111.1:c.874C>T, NM_001324101.2:c.1273C>T, NM_001324101.1:c.1273C>T, NM_001324103.2:c.1270C>T, NM_001324103.1:c.1270C>T, NM_001324106.2:c.1246C>T, NM_001324106.1:c.1246C>T, NM_001324107.2:c.1249C>T, NM_001324107.1:c.1249C>T, NM_001324108.2:c.1246C>T, NM_001324108.1:c.1246C>T, NM_001364159.2:c.871C>T, NM_001364159.1:c.871C>T, NM_001364158.2:c.847C>T, NM_001364158.1:c.847C>T, NM_001324109.2:c.1273C>T, NM_001324109.1:c.1273C>T, NM_001364155.2:c.1270C>T, NM_001364155.1:c.1270C>T, XM_017009199.2:c.652C>T, XM_017009199.1:c.652C>T, XM_017009197.2:c.1156C>T, XM_017009197.1:c.1156C>T, XM_017009194.2:c.1249C>T, XM_017009194.1:c.1249C>T, XM_024454390.2:c.874C>T, XM_024454390.1:c.874C>T, XM_024454391.2:c.874C>T, XM_024454391.1:c.874C>T, XM_047416891.1:c.652C>T, XM_047416889.1:c.1159C>T, XM_047416890.1:c.1132C>T, XM_047416888.1:c.1132C>T, NP_076870.1:p.Leu424Phe, XP_016864689.1:p.Leu218Phe, NP_001277289.1:p.Leu425Phe, NP_874367.1:p.Leu393Phe, NP_001351086.1:p.Leu387Phe, NP_001351085.1:p.Leu386Phe, NP_001311040.1:p.Leu292Phe, NP_001311030.1:p.Leu425Phe, NP_001311032.1:p.Leu424Phe, NP_001311035.1:p.Leu416Phe, NP_001311036.1:p.Leu417Phe, NP_001311037.1:p.Leu416Phe, NP_001351088.1:p.Leu291Phe, NP_001351087.1:p.Leu283Phe, NP_001311038.1:p.Leu425Phe, NP_001351084.1:p.Leu424Phe, XP_016864688.1:p.Leu218Phe, XP_016864686.1:p.Leu386Phe, XP_016864683.1:p.Leu417Phe, XP_024310158.1:p.Leu292Phe, XP_024310159.1:p.Leu292Phe, XP_047272847.1:p.Leu218Phe, XP_047272845.1:p.Leu387Phe, XP_047272846.1:p.Leu378Phe, XP_047272844.1:p.Leu378Phe

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