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Items: 1 to 20 of 574

1.

rs1490115279 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    2:130139608 (GRCh38)
    2:130897181 (GRCh37)
    Canonical SPDI:
    NC_000002.12:130139607:G:A,NC_000002.12:130139607:G:T
    Gene:
    CCDC74B (Varview), MED15P9 (Varview)
    Functional Consequence:
    coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,stop_gained,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000111/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.130139608G>A, NC_000002.12:g.130139608G>T, NC_000002.11:g.130897181G>A, NC_000002.11:g.130897181G>T, NW_025791762.1:g.316168G>A, NW_025791762.1:g.316168G>T, XM_006712834.4:c.1102C>T, XM_006712834.4:c.1102C>A, XM_006712834.3:c.1102C>T, XM_006712834.3:c.1102C>A, XM_006712834.2:c.1102C>T, XM_006712834.2:c.1102C>A, XM_006712834.1:c.1102C>T, XM_006712834.1:c.1102C>A, NM_207310.4:c.1090C>T, NM_207310.4:c.1090C>A, NM_207310.3:c.1090C>T, NM_207310.3:c.1090C>A, NM_207310.2:c.1090C>T, NM_207310.2:c.1090C>A, XM_011512142.3:c.1396C>T, XM_011512142.3:c.1396C>A, XM_011512142.2:c.1396C>T, XM_011512142.2:c.1396C>A, XM_011512142.1:c.1396C>T, XM_011512142.1:c.1396C>A, XM_006712833.3:c.1228C>T, XM_006712833.3:c.1228C>A, XM_006712833.2:c.1228C>T, XM_006712833.2:c.1228C>A, XM_006712833.1:c.1228C>T, XM_006712833.1:c.1228C>A, XM_005263840.3:c.1216C>T, XM_005263840.3:c.1216C>A, XM_005263840.2:c.1216C>T, XM_005263840.2:c.1216C>A, XM_005263840.1:c.1216C>T, XM_005263840.1:c.1216C>A, XM_006712835.3:c.1030C>T, XM_006712835.3:c.1030C>A, XM_006712835.2:c.1030C>T, XM_006712835.2:c.1030C>A, XM_006712835.1:c.1030C>T, XM_006712835.1:c.1030C>A, XM_006712837.3:c.904C>T, XM_006712837.3:c.904C>A, XM_006712837.2:c.904C>T, XM_006712837.2:c.904C>A, XM_006712837.1:c.904C>T, XM_006712837.1:c.904C>A, XM_005263842.3:c.1018C>T, XM_005263842.3:c.1018C>A, XM_005263842.2:c.1018C>T, XM_005263842.2:c.1018C>A, XM_005263842.1:c.1018C>T, XM_005263842.1:c.1018C>A, NM_001258307.2:c.892C>T, NM_001258307.2:c.892C>A, NM_001258307.1:c.892C>T, NM_001258307.1:c.892C>A, XM_047446279.1:c.832C>T, XM_047446279.1:c.832C>A, XM_047446278.1:c.832C>T, XM_047446278.1:c.832C>A, NR_165309.1:n.1175C>T, NR_165309.1:n.1175C>A, XM_047446281.1:c.634C>T, XM_047446281.1:c.634C>A, XP_006712897.1:p.Gln368Ter, XP_006712897.1:p.Gln368Lys, NP_997193.1:p.Gln364Ter, NP_997193.1:p.Gln364Lys, XP_011510444.1:p.Gln466Ter, XP_011510444.1:p.Gln466Lys, XP_006712896.1:p.Gln410Ter, XP_006712896.1:p.Gln410Lys, XP_005263897.1:p.Gln406Ter, XP_005263897.1:p.Gln406Lys, XP_006712898.1:p.Gln344Ter, XP_006712898.1:p.Gln344Lys, XP_006712900.1:p.Gln302Ter, XP_006712900.1:p.Gln302Lys, XP_005263899.1:p.Gln340Ter, XP_005263899.1:p.Gln340Lys, NP_001245236.1:p.Gln298Ter, NP_001245236.1:p.Gln298Lys, XP_047302235.1:p.Gln278Ter, XP_047302235.1:p.Gln278Lys, XP_047302234.1:p.Gln278Ter, XP_047302234.1:p.Gln278Lys, XP_047302237.1:p.Gln212Ter, XP_047302237.1:p.Gln212Lys

    2.

    rs1489864121 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      2:130139934 (GRCh38)
      2:130897507 (GRCh37)
      Canonical SPDI:
      NC_000002.12:130139933:T:G
      Gene:
      CCDC74B (Varview)
      Functional Consequence:
      coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      G=0.000142/4 (TOMMO)
      HGVS:
      NC_000002.12:g.130139934T>G, NC_000002.11:g.130897507T>G, NW_025791762.1:g.316494T>G, XM_006712834.4:c.976A>C, XM_006712834.3:c.976A>C, XM_006712834.2:c.976A>C, XM_006712834.1:c.976A>C, NM_207310.4:c.964A>C, NM_207310.3:c.964A>C, NM_207310.2:c.964A>C, XM_011512142.3:c.1270A>C, XM_011512142.2:c.1270A>C, XM_011512142.1:c.1270A>C, XM_006712833.3:c.1102A>C, XM_006712833.2:c.1102A>C, XM_006712833.1:c.1102A>C, XM_005263840.3:c.1090A>C, XM_005263840.2:c.1090A>C, XM_005263840.1:c.1090A>C, XM_006712835.3:c.904A>C, XM_006712835.2:c.904A>C, XM_006712835.1:c.904A>C, XM_005263842.3:c.892A>C, XM_005263842.2:c.892A>C, XM_005263842.1:c.892A>C, XM_006712837.3:c.778A>C, XM_006712837.2:c.778A>C, XM_006712837.1:c.778A>C, NM_001258307.2:c.766A>C, NM_001258307.1:c.766A>C, XM_047446279.1:c.706A>C, XM_047446278.1:c.706A>C, NR_165309.1:n.1049A>C, XM_047446281.1:c.508A>C, XP_006712897.1:p.Thr326Pro, NP_997193.1:p.Thr322Pro, XP_011510444.1:p.Thr424Pro, XP_006712896.1:p.Thr368Pro, XP_005263897.1:p.Thr364Pro, XP_006712898.1:p.Thr302Pro, XP_005263899.1:p.Thr298Pro, XP_006712900.1:p.Thr260Pro, NP_001245236.1:p.Thr256Pro, XP_047302235.1:p.Thr236Pro, XP_047302234.1:p.Thr236Pro, XP_047302237.1:p.Thr170Pro

      3.

      rs1487552457 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        2:130144677 (GRCh38)
        2:130902250 (GRCh37)
        Canonical SPDI:
        NC_000002.12:130144676:T:G
        Gene:
        CCDC74B (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1486187514 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:130141222 (GRCh38)
          2:130898795 (GRCh37)
          Canonical SPDI:
          NC_000002.12:130141221:C:T
          Gene:
          CCDC74B (Varview)
          Functional Consequence:
          coding_sequence_variant,stop_gained,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000022/3 (GnomAD)
          T=0.000035/1 (TOMMO)
          HGVS:
          NC_000002.12:g.130141222C>T, NC_000002.11:g.130898795C>T, NW_025791762.1:g.317782C>T, XM_006712834.4:c.631G>A, XM_006712834.3:c.631G>A, XM_006712834.2:c.631G>A, XM_006712834.1:c.631G>A, NM_207310.4:c.619G>A, NM_207310.3:c.619G>A, NM_207310.2:c.619G>A, XM_011512142.3:c.925G>A, XM_011512142.2:c.925G>A, XM_011512142.1:c.925G>A, XM_006712833.3:c.757G>A, XM_006712833.2:c.757G>A, XM_006712833.1:c.757G>A, XM_005263840.3:c.745G>A, XM_005263840.2:c.745G>A, XM_005263840.1:c.745G>A, XM_005263842.3:c.547G>A, XM_005263842.2:c.547G>A, XM_005263842.1:c.547G>A, XM_006712835.3:c.559G>A, XM_006712835.2:c.559G>A, XM_006712835.1:c.559G>A, XM_006712837.3:c.433G>A, XM_006712837.2:c.433G>A, XM_006712837.1:c.433G>A, NM_001258307.2:c.421G>A, NM_001258307.1:c.421G>A, XM_011512147.2:c.*132G>A, XM_047446279.1:c.361G>A, XM_047446278.1:c.361G>A, NR_165309.1:n.704G>A, XM_047446281.1:c.163G>A, XM_047446276.1:c.786G>A, XM_047446277.1:c.771G>A, XM_047446280.1:c.573G>A, XP_006712897.1:p.Glu211Lys, NP_997193.1:p.Glu207Lys, XP_011510444.1:p.Glu309Lys, XP_006712896.1:p.Glu253Lys, XP_005263897.1:p.Glu249Lys, XP_005263899.1:p.Glu183Lys, XP_006712898.1:p.Glu187Lys, XP_006712900.1:p.Glu145Lys, NP_001245236.1:p.Glu141Lys, XP_047302235.1:p.Glu121Lys, XP_047302234.1:p.Glu121Lys, XP_047302237.1:p.Glu55Lys, XP_047302232.1:p.Trp262Ter, XP_047302233.1:p.Trp257Ter, XP_047302236.1:p.Trp191Ter

          5.

          rs1485499439 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            2:130144786 (GRCh38)
            2:130902359 (GRCh37)
            Canonical SPDI:
            NC_000002.12:130144785:G:A,NC_000002.12:130144785:G:T
            Gene:
            CCDC74B (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.130144786G>A, NC_000002.12:g.130144786G>T, NC_000002.11:g.130902359G>A, NC_000002.11:g.130902359G>T, NW_025791762.1:g.321346G>A, NW_025791762.1:g.321346G>T, XM_006712834.4:c.211C>T, XM_006712834.4:c.211C>A, XM_006712834.3:c.211C>T, XM_006712834.3:c.211C>A, XM_006712834.2:c.211C>T, XM_006712834.2:c.211C>A, XM_006712834.1:c.211C>T, XM_006712834.1:c.211C>A, NM_207310.4:c.211C>T, NM_207310.4:c.211C>A, NM_207310.3:c.211C>T, NM_207310.3:c.211C>A, NM_207310.2:c.211C>T, NM_207310.2:c.211C>A, XM_006712833.3:c.211C>T, XM_006712833.3:c.211C>A, XM_006712833.2:c.211C>T, XM_006712833.2:c.211C>A, XM_006712833.1:c.211C>T, XM_006712833.1:c.211C>A, XM_005263840.3:c.211C>T, XM_005263840.3:c.211C>A, XM_005263840.2:c.211C>T, XM_005263840.2:c.211C>A, XM_005263840.1:c.211C>T, XM_005263840.1:c.211C>A, XM_006712835.3:c.211C>T, XM_006712835.3:c.211C>A, XM_006712835.2:c.211C>T, XM_006712835.2:c.211C>A, XM_006712835.1:c.211C>T, XM_006712835.1:c.211C>A, XM_005263842.3:c.211C>T, XM_005263842.3:c.211C>A, XM_005263842.2:c.211C>T, XM_005263842.2:c.211C>A, XM_005263842.1:c.211C>T, XM_005263842.1:c.211C>A, XM_006712837.3:c.211C>T, XM_006712837.3:c.211C>A, XM_006712837.2:c.211C>T, XM_006712837.2:c.211C>A, XM_006712837.1:c.211C>T, XM_006712837.1:c.211C>A, NM_001258307.2:c.211C>T, NM_001258307.2:c.211C>A, NM_001258307.1:c.211C>T, NM_001258307.1:c.211C>A, XM_011512147.2:c.211C>T, XM_011512147.2:c.211C>A, XM_011512147.1:c.211C>T, XM_011512147.1:c.211C>A, XM_047446279.1:c.-321C>T, XM_047446279.1:c.-321C>A, XM_047446278.1:c.-195C>T, XM_047446278.1:c.-195C>A, NR_165309.1:n.327C>T, NR_165309.1:n.327C>A, XM_047446281.1:c.-195C>T, XM_047446281.1:c.-195C>A, XM_047446276.1:c.211C>T, XM_047446276.1:c.211C>A, XM_047446277.1:c.211C>T, XM_047446277.1:c.211C>A, XM_047446280.1:c.211C>T, XM_047446280.1:c.211C>A, XP_006712897.1:p.Leu71Phe, XP_006712897.1:p.Leu71Ile, NP_997193.1:p.Leu71Phe, NP_997193.1:p.Leu71Ile, XP_006712896.1:p.Leu71Phe, XP_006712896.1:p.Leu71Ile, XP_005263897.1:p.Leu71Phe, XP_005263897.1:p.Leu71Ile, XP_006712898.1:p.Leu71Phe, XP_006712898.1:p.Leu71Ile, XP_005263899.1:p.Leu71Phe, XP_005263899.1:p.Leu71Ile, XP_006712900.1:p.Leu71Phe, XP_006712900.1:p.Leu71Ile, NP_001245236.1:p.Leu71Phe, NP_001245236.1:p.Leu71Ile, XP_011510449.1:p.Leu71Phe, XP_011510449.1:p.Leu71Ile, XP_047302232.1:p.Leu71Phe, XP_047302232.1:p.Leu71Ile, XP_047302233.1:p.Leu71Phe, XP_047302233.1:p.Leu71Ile, XP_047302236.1:p.Leu71Phe, XP_047302236.1:p.Leu71Ile

            6.

            rs1485100878 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:130142254 (GRCh38)
              2:130899827 (GRCh37)
              Canonical SPDI:
              NC_000002.12:130142253:C:T
              Gene:
              CCDC74B (Varview)
              Functional Consequence:
              intron_variant,synonymous_variant,coding_sequence_variant
              HGVS:

              7.

              rs1484376063 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CCGC>- [Show Flanks]
                Chromosome:
                2:130144984 (GRCh38)
                2:130902557 (GRCh37)
                Canonical SPDI:
                NC_000002.12:130144982:CCCGC:C
                Gene:
                CCDC74B (Varview)
                Functional Consequence:
                frameshift_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.130144984_130144987del, NC_000002.11:g.130902557_130902560del, NW_025791762.1:g.321544_321547del, XM_006712834.4:c.11_14del, XM_006712834.3:c.11_14del, XM_006712834.2:c.11_14del, XM_006712834.1:c.11_14del, NM_207310.4:c.11_14del, NM_207310.3:c.11_14del, NM_207310.2:c.11_14del, XM_006712833.3:c.11_14del, XM_006712833.2:c.11_14del, XM_006712833.1:c.11_14del, XM_005263840.3:c.11_14del, XM_005263840.2:c.11_14del, XM_005263840.1:c.11_14del, XM_006712835.3:c.11_14del, XM_006712835.2:c.11_14del, XM_006712835.1:c.11_14del, XM_005263842.3:c.11_14del, XM_005263842.2:c.11_14del, XM_005263842.1:c.11_14del, XM_006712837.3:c.11_14del, XM_006712837.2:c.11_14del, XM_006712837.1:c.11_14del, NM_001258307.2:c.11_14del, NM_001258307.1:c.11_14del, XM_011512147.2:c.11_14del, XM_011512147.1:c.11_14del, XM_047446278.1:c.-395_-392del, XM_047446279.1:c.-521_-518del, XM_047446281.1:c.-395_-392del, XM_047446276.1:c.11_14del, XM_047446277.1:c.11_14del, XM_047446280.1:c.11_14del, NR_165309.1:n.127_130del, XP_006712897.1:p.Ala4fs, NP_997193.1:p.Ala4fs, XP_006712896.1:p.Ala4fs, XP_005263897.1:p.Ala4fs, XP_006712898.1:p.Ala4fs, XP_005263899.1:p.Ala4fs, XP_006712900.1:p.Ala4fs, NP_001245236.1:p.Ala4fs, XP_011510449.1:p.Ala4fs, XP_047302232.1:p.Ala4fs, XP_047302233.1:p.Ala4fs, XP_047302236.1:p.Ala4fs

                8.

                rs1483220220 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  2:130140055 (GRCh38)
                  2:130897628 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:130140054:G:C,NC_000002.12:130140054:G:T
                  Gene:
                  CCDC74B (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.130140055G>C, NC_000002.12:g.130140055G>T, NC_000002.11:g.130897628G>C, NC_000002.11:g.130897628G>T, NW_025791762.1:g.316615G>C, NW_025791762.1:g.316615G>T, XM_006712834.4:c.930C>G, XM_006712834.4:c.930C>A, XM_006712834.3:c.930C>G, XM_006712834.3:c.930C>A, XM_006712834.2:c.930C>G, XM_006712834.2:c.930C>A, XM_006712834.1:c.930C>G, XM_006712834.1:c.930C>A, NM_207310.4:c.918C>G, NM_207310.4:c.918C>A, NM_207310.3:c.918C>G, NM_207310.3:c.918C>A, NM_207310.2:c.918C>G, NM_207310.2:c.918C>A, XM_011512142.3:c.1224C>G, XM_011512142.3:c.1224C>A, XM_011512142.2:c.1224C>G, XM_011512142.2:c.1224C>A, XM_011512142.1:c.1224C>G, XM_011512142.1:c.1224C>A, XM_006712833.3:c.1056C>G, XM_006712833.3:c.1056C>A, XM_006712833.2:c.1056C>G, XM_006712833.2:c.1056C>A, XM_006712833.1:c.1056C>G, XM_006712833.1:c.1056C>A, XM_005263840.3:c.1044C>G, XM_005263840.3:c.1044C>A, XM_005263840.2:c.1044C>G, XM_005263840.2:c.1044C>A, XM_005263840.1:c.1044C>G, XM_005263840.1:c.1044C>A, XM_006712835.3:c.858C>G, XM_006712835.3:c.858C>A, XM_006712835.2:c.858C>G, XM_006712835.2:c.858C>A, XM_006712835.1:c.858C>G, XM_006712835.1:c.858C>A, XM_006712837.3:c.732C>G, XM_006712837.3:c.732C>A, XM_006712837.2:c.732C>G, XM_006712837.2:c.732C>A, XM_006712837.1:c.732C>G, XM_006712837.1:c.732C>A, XM_005263842.3:c.846C>G, XM_005263842.3:c.846C>A, XM_005263842.2:c.846C>G, XM_005263842.2:c.846C>A, XM_005263842.1:c.846C>G, XM_005263842.1:c.846C>A, NM_001258307.2:c.720C>G, NM_001258307.2:c.720C>A, NM_001258307.1:c.720C>G, NM_001258307.1:c.720C>A, XM_047446279.1:c.660C>G, XM_047446279.1:c.660C>A, XM_047446278.1:c.660C>G, XM_047446278.1:c.660C>A, NR_165309.1:n.1003C>G, NR_165309.1:n.1003C>A, XM_047446281.1:c.462C>G, XM_047446281.1:c.462C>A

                  9.

                  rs1479812185 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CTC>- [Show Flanks]
                    Chromosome:
                    2:130141217 (GRCh38)
                    2:130898790 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:130141213:CTCCTC:CTC
                    Gene:
                    CCDC74B (Varview)
                    Functional Consequence:
                    inframe_deletion,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CTCCTC=0./0 (ALFA)
                    HGVS:
                    NC_000002.12:g.130141214CTC[1], NC_000002.11:g.130898787CTC[1], NW_025791762.1:g.317774CTC[1], XM_006712834.4:c.634GAG[1], XM_006712834.3:c.634GAG[1], XM_006712834.2:c.634GAG[1], XM_006712834.1:c.634GAG[1], NM_207310.4:c.622GAG[1], NM_207310.3:c.622GAG[1], NM_207310.2:c.622GAG[1], XM_011512142.3:c.928GAG[1], XM_011512142.2:c.928GAG[1], XM_011512142.1:c.928GAG[1], XM_006712833.3:c.760GAG[1], XM_006712833.2:c.760GAG[1], XM_006712833.1:c.760GAG[1], XM_005263840.3:c.748GAG[1], XM_005263840.2:c.748GAG[1], XM_005263840.1:c.748GAG[1], XM_005263842.3:c.550GAG[1], XM_005263842.2:c.550GAG[1], XM_005263842.1:c.550GAG[1], XM_006712835.3:c.562GAG[1], XM_006712835.2:c.562GAG[1], XM_006712835.1:c.562GAG[1], XM_006712837.3:c.436GAG[1], XM_006712837.2:c.436GAG[1], XM_006712837.1:c.436GAG[1], NM_001258307.2:c.424GAG[1], NM_001258307.1:c.424GAG[1], XM_011512147.2:c.*135GAG[1], XM_047446279.1:c.364GAG[1], XM_047446278.1:c.364GAG[1], NR_165309.1:n.707GAG[1], XM_047446281.1:c.166GAG[1], XM_047446276.1:c.789GAG[1], XM_047446277.1:c.774GAG[1], XM_047446280.1:c.576GAG[1], XP_006712897.1:p.Glu213del, NP_997193.1:p.Glu209del, XP_011510444.1:p.Glu311del, XP_006712896.1:p.Glu255del, XP_005263897.1:p.Glu251del, XP_005263899.1:p.Glu185del, XP_006712898.1:p.Glu189del, XP_006712900.1:p.Glu147del, NP_001245236.1:p.Glu143del, XP_047302235.1:p.Glu123del, XP_047302234.1:p.Glu123del, XP_047302237.1:p.Glu57del, XP_047302232.1:p.Arg264del, XP_047302233.1:p.Arg259del, XP_047302236.1:p.Arg193del

                    10.

                    rs1478202890 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:130144742 (GRCh38)
                      2:130902315 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:130144741:C:T
                      Gene:
                      CCDC74B (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1476671424 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        2:130143301 (GRCh38)
                        2:130900874 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:130143300:T:G
                        Gene:
                        CCDC74B (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000002.12:g.130143301T>G, NC_000002.11:g.130900874T>G, NW_025791762.1:g.319861T>G, XM_006712834.4:c.263A>C, XM_006712834.3:c.263A>C, XM_006712834.2:c.263A>C, XM_006712834.1:c.263A>C, NM_207310.4:c.263A>C, NM_207310.3:c.263A>C, NM_207310.2:c.263A>C, XM_006712833.3:c.389A>C, XM_006712833.2:c.389A>C, XM_006712833.1:c.389A>C, XM_005263840.3:c.389A>C, XM_005263840.2:c.389A>C, XM_005263840.1:c.389A>C, XM_006712835.3:c.389A>C, XM_006712835.2:c.389A>C, XM_006712835.1:c.389A>C, XM_005263842.3:c.389A>C, XM_005263842.2:c.389A>C, XM_005263842.1:c.389A>C, XM_006712837.3:c.263A>C, XM_006712837.2:c.263A>C, XM_006712837.1:c.263A>C, NM_001258307.2:c.263A>C, NM_001258307.1:c.263A>C, XM_011512147.2:c.389A>C, XM_011512147.1:c.389A>C, XM_047446278.1:c.-8A>C, XM_047446281.1:c.-8A>C, XM_047446279.1:c.-8A>C, XM_047446276.1:c.389A>C, XM_047446280.1:c.389A>C, XM_047446277.1:c.389A>C, NR_165309.1:n.505A>C, XP_006712897.1:p.Lys88Thr, NP_997193.1:p.Lys88Thr, XP_006712896.1:p.Lys130Thr, XP_005263897.1:p.Lys130Thr, XP_006712898.1:p.Lys130Thr, XP_005263899.1:p.Lys130Thr, XP_006712900.1:p.Lys88Thr, NP_001245236.1:p.Lys88Thr, XP_011510449.1:p.Lys130Thr, XP_047302232.1:p.Lys130Thr, XP_047302236.1:p.Lys130Thr, XP_047302233.1:p.Lys130Thr

                        12.

                        rs1476553177 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          2:130140216 (GRCh38)
                          2:130897789 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:130140215:C:A,NC_000002.12:130140215:C:T
                          Gene:
                          CCDC74B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000002.12:g.130140216C>A, NC_000002.12:g.130140216C>T, NC_000002.11:g.130897789C>A, NC_000002.11:g.130897789C>T, NW_025791762.1:g.316776C>A, NW_025791762.1:g.316776C>T, XM_006712834.4:c.851G>T, XM_006712834.4:c.851G>A, XM_006712834.3:c.851G>T, XM_006712834.3:c.851G>A, XM_006712834.2:c.851G>T, XM_006712834.2:c.851G>A, XM_006712834.1:c.851G>T, XM_006712834.1:c.851G>A, NM_207310.4:c.839G>T, NM_207310.4:c.839G>A, NM_207310.3:c.839G>T, NM_207310.3:c.839G>A, NM_207310.2:c.839G>T, NM_207310.2:c.839G>A, XM_011512142.3:c.1145G>T, XM_011512142.3:c.1145G>A, XM_011512142.2:c.1145G>T, XM_011512142.2:c.1145G>A, XM_011512142.1:c.1145G>T, XM_011512142.1:c.1145G>A, XM_006712833.3:c.977G>T, XM_006712833.3:c.977G>A, XM_006712833.2:c.977G>T, XM_006712833.2:c.977G>A, XM_006712833.1:c.977G>T, XM_006712833.1:c.977G>A, XM_005263840.3:c.965G>T, XM_005263840.3:c.965G>A, XM_005263840.2:c.965G>T, XM_005263840.2:c.965G>A, XM_005263840.1:c.965G>T, XM_005263840.1:c.965G>A, XM_006712835.3:c.779G>T, XM_006712835.3:c.779G>A, XM_006712835.2:c.779G>T, XM_006712835.2:c.779G>A, XM_006712835.1:c.779G>T, XM_006712835.1:c.779G>A, XM_005263842.3:c.767G>T, XM_005263842.3:c.767G>A, XM_005263842.2:c.767G>T, XM_005263842.2:c.767G>A, XM_005263842.1:c.767G>T, XM_005263842.1:c.767G>A, XM_006712837.3:c.653G>T, XM_006712837.3:c.653G>A, XM_006712837.2:c.653G>T, XM_006712837.2:c.653G>A, XM_006712837.1:c.653G>T, XM_006712837.1:c.653G>A, NM_001258307.2:c.641G>T, NM_001258307.2:c.641G>A, NM_001258307.1:c.641G>T, NM_001258307.1:c.641G>A, XM_047446279.1:c.581G>T, XM_047446279.1:c.581G>A, XM_047446278.1:c.581G>T, XM_047446278.1:c.581G>A, NR_165309.1:n.924G>T, NR_165309.1:n.924G>A, XM_047446281.1:c.383G>T, XM_047446281.1:c.383G>A, XM_047446276.1:c.*58G>T, XM_047446276.1:c.*58G>A, XM_047446277.1:c.*58G>T, XM_047446277.1:c.*58G>A, XM_047446280.1:c.*58G>T, XM_047446280.1:c.*58G>A, XP_006712897.1:p.Arg284Leu, XP_006712897.1:p.Arg284His, NP_997193.1:p.Arg280Leu, NP_997193.1:p.Arg280His, XP_011510444.1:p.Arg382Leu, XP_011510444.1:p.Arg382His, XP_006712896.1:p.Arg326Leu, XP_006712896.1:p.Arg326His, XP_005263897.1:p.Arg322Leu, XP_005263897.1:p.Arg322His, XP_006712898.1:p.Arg260Leu, XP_006712898.1:p.Arg260His, XP_005263899.1:p.Arg256Leu, XP_005263899.1:p.Arg256His, XP_006712900.1:p.Arg218Leu, XP_006712900.1:p.Arg218His, NP_001245236.1:p.Arg214Leu, NP_001245236.1:p.Arg214His, XP_047302235.1:p.Arg194Leu, XP_047302235.1:p.Arg194His, XP_047302234.1:p.Arg194Leu, XP_047302234.1:p.Arg194His, XP_047302237.1:p.Arg128Leu, XP_047302237.1:p.Arg128His

                          13.

                          rs1476081064 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            2:130144962 (GRCh38)
                            2:130902535 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:130144961:G:T
                            Gene:
                            CCDC74B (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00062/1 (ALFA)
                            T=0.00001/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.130144962G>T, NC_000002.11:g.130902535G>T, NW_025791762.1:g.321522G>T, XM_006712834.4:c.35C>A, XM_006712834.3:c.35C>A, XM_006712834.2:c.35C>A, XM_006712834.1:c.35C>A, NM_207310.4:c.35C>A, NM_207310.3:c.35C>A, NM_207310.2:c.35C>A, XM_006712833.3:c.35C>A, XM_006712833.2:c.35C>A, XM_006712833.1:c.35C>A, XM_005263840.3:c.35C>A, XM_005263840.2:c.35C>A, XM_005263840.1:c.35C>A, XM_006712835.3:c.35C>A, XM_006712835.2:c.35C>A, XM_006712835.1:c.35C>A, XM_005263842.3:c.35C>A, XM_005263842.2:c.35C>A, XM_005263842.1:c.35C>A, XM_006712837.3:c.35C>A, XM_006712837.2:c.35C>A, XM_006712837.1:c.35C>A, NM_001258307.2:c.35C>A, NM_001258307.1:c.35C>A, XM_011512147.2:c.35C>A, XM_011512147.1:c.35C>A, XM_047446278.1:c.-371C>A, XM_047446279.1:c.-497C>A, XM_047446281.1:c.-371C>A, XM_047446276.1:c.35C>A, XM_047446277.1:c.35C>A, XM_047446280.1:c.35C>A, NR_165309.1:n.151C>A, XP_006712897.1:p.Pro12His, NP_997193.1:p.Pro12His, XP_006712896.1:p.Pro12His, XP_005263897.1:p.Pro12His, XP_006712898.1:p.Pro12His, XP_005263899.1:p.Pro12His, XP_006712900.1:p.Pro12His, NP_001245236.1:p.Pro12His, XP_011510449.1:p.Pro12His, XP_047302232.1:p.Pro12His, XP_047302233.1:p.Pro12His, XP_047302236.1:p.Pro12His

                            14.

                            rs1472978262 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:130141253 (GRCh38)
                              2:130898826 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:130141252:T:C
                              Gene:
                              CCDC74B (Varview)
                              Functional Consequence:
                              missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.130141253T>C, NC_000002.11:g.130898826T>C, NW_025791762.1:g.317813T>C, XM_006712834.4:c.600A>G, XM_006712834.3:c.600A>G, XM_006712834.2:c.600A>G, XM_006712834.1:c.600A>G, NM_207310.4:c.588A>G, NM_207310.3:c.588A>G, NM_207310.2:c.588A>G, XM_011512142.3:c.894A>G, XM_011512142.2:c.894A>G, XM_011512142.1:c.894A>G, XM_006712833.3:c.726A>G, XM_006712833.2:c.726A>G, XM_006712833.1:c.726A>G, XM_005263840.3:c.714A>G, XM_005263840.2:c.714A>G, XM_005263840.1:c.714A>G, XM_006712835.3:c.528A>G, XM_006712835.2:c.528A>G, XM_006712835.1:c.528A>G, XM_005263842.3:c.516A>G, XM_005263842.2:c.516A>G, XM_005263842.1:c.516A>G, XM_006712837.3:c.402A>G, XM_006712837.2:c.402A>G, XM_006712837.1:c.402A>G, NM_001258307.2:c.390A>G, NM_001258307.1:c.390A>G, XM_011512147.2:c.*101A>G, XM_047446279.1:c.330A>G, XM_047446278.1:c.330A>G, XM_047446281.1:c.132A>G, XM_047446276.1:c.755A>G, XM_047446277.1:c.740A>G, XM_047446280.1:c.542A>G, NR_165309.1:n.673A>G, XP_047302232.1:p.Gln252Arg, XP_047302233.1:p.Gln247Arg, XP_047302236.1:p.Gln181Arg

                              15.

                              rs1472748645 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                2:130142213 (GRCh38)
                                2:130899786 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:130142212:CC:C
                                Gene:
                                CCDC74B (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,frameshift_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.130142214del, NC_000002.11:g.130899787del, NW_025791762.1:g.318774del, XM_006712834.4:c.464del, XM_006712834.3:c.464del, XM_006712834.2:c.464del, XM_006712834.1:c.464del, NM_207310.4:c.464del, NM_207310.3:c.464del, NM_207310.2:c.464del, XM_011512142.3:c.770del, XM_011512142.2:c.770del, XM_011512142.1:c.770del, XM_006712833.3:c.590del, XM_006712833.2:c.590del, XM_006712833.1:c.590del, XM_005263840.3:c.590del, XM_005263840.2:c.590del, XM_005263840.1:c.590del, XM_011512147.2:c.590del, XM_011512147.1:c.590del, XM_047446279.1:c.194del, XM_047446278.1:c.194del, XM_047446276.1:c.590del, XM_047446277.1:c.590del, XP_006712897.1:p.Gly155fs, NP_997193.1:p.Gly155fs, XP_011510444.1:p.Gly257fs, XP_006712896.1:p.Gly197fs, XP_005263897.1:p.Gly197fs, XP_011510449.1:p.Gly197fs, XP_047302235.1:p.Gly65fs, XP_047302234.1:p.Gly65fs, XP_047302232.1:p.Gly197fs, XP_047302233.1:p.Gly197fs

                                16.

                                rs1472608993 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:130142270 (GRCh38)
                                  2:130899843 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:130142269:T:C
                                  Gene:
                                  CCDC74B (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000002.12:g.130142270T>C, NC_000002.11:g.130899843T>C, NW_025791762.1:g.318830T>C, XM_006712834.4:c.407A>G, XM_006712834.3:c.407A>G, XM_006712834.2:c.407A>G, XM_006712834.1:c.407A>G, NM_207310.4:c.407A>G, NM_207310.3:c.407A>G, NM_207310.2:c.407A>G, XM_011512142.3:c.713A>G, XM_011512142.2:c.713A>G, XM_011512142.1:c.713A>G, XM_006712833.3:c.533A>G, XM_006712833.2:c.533A>G, XM_006712833.1:c.533A>G, XM_005263840.3:c.533A>G, XM_005263840.2:c.533A>G, XM_005263840.1:c.533A>G, XM_011512147.2:c.533A>G, XM_011512147.1:c.533A>G, XM_047446279.1:c.137A>G, XM_047446278.1:c.137A>G, XM_047446276.1:c.533A>G, XM_047446277.1:c.533A>G, XP_006712897.1:p.Lys136Arg, NP_997193.1:p.Lys136Arg, XP_011510444.1:p.Lys238Arg, XP_006712896.1:p.Lys178Arg, XP_005263897.1:p.Lys178Arg, XP_011510449.1:p.Lys178Arg, XP_047302235.1:p.Lys46Arg, XP_047302234.1:p.Lys46Arg, XP_047302232.1:p.Lys178Arg, XP_047302233.1:p.Lys178Arg

                                  17.

                                  rs1470207888 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    2:130140335 (GRCh38)
                                    2:130897908 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:130140334:G:T
                                    Gene:
                                    CCDC74B (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000049/2 (ALFA)
                                    T=0.000012/3 (GnomAD_exomes)
                                    T=0.000034/9 (TOPMED)
                                    T=0.00005/7 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.130140335G>T, NC_000002.11:g.130897908G>T, NW_025791762.1:g.316895G>T, XM_006712834.4:c.732C>A, XM_006712834.3:c.732C>A, XM_006712834.2:c.732C>A, XM_006712834.1:c.732C>A, NM_207310.4:c.720C>A, NM_207310.3:c.720C>A, NM_207310.2:c.720C>A, XM_011512142.3:c.1026C>A, XM_011512142.2:c.1026C>A, XM_011512142.1:c.1026C>A, XM_006712833.3:c.858C>A, XM_006712833.2:c.858C>A, XM_006712833.1:c.858C>A, XM_005263840.3:c.846C>A, XM_005263840.2:c.846C>A, XM_005263840.1:c.846C>A, XM_006712835.3:c.660C>A, XM_006712835.2:c.660C>A, XM_006712835.1:c.660C>A, XM_005263842.3:c.648C>A, XM_005263842.2:c.648C>A, XM_005263842.1:c.648C>A, XM_006712837.3:c.534C>A, XM_006712837.2:c.534C>A, XM_006712837.1:c.534C>A, NM_001258307.2:c.522C>A, NM_001258307.1:c.522C>A, XM_047446279.1:c.462C>A, XM_047446278.1:c.462C>A, NR_165309.1:n.805C>A, XM_047446281.1:c.264C>A, XM_047446276.1:c.887C>A, XM_047446277.1:c.872C>A, XM_047446280.1:c.674C>A, XP_047302232.1:p.Pro296His, XP_047302233.1:p.Pro291His, XP_047302236.1:p.Pro225His

                                    18.

                                    rs1469743943 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:130144831 (GRCh38)
                                      2:130902404 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:130144830:T:C
                                      Gene:
                                      CCDC74B (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.130144831T>C, NC_000002.11:g.130902404T>C, NW_025791762.1:g.321391T>C, XM_006712834.4:c.166A>G, XM_006712834.3:c.166A>G, XM_006712834.2:c.166A>G, XM_006712834.1:c.166A>G, NM_207310.4:c.166A>G, NM_207310.3:c.166A>G, NM_207310.2:c.166A>G, XM_006712833.3:c.166A>G, XM_006712833.2:c.166A>G, XM_006712833.1:c.166A>G, XM_005263840.3:c.166A>G, XM_005263840.2:c.166A>G, XM_005263840.1:c.166A>G, XM_006712835.3:c.166A>G, XM_006712835.2:c.166A>G, XM_006712835.1:c.166A>G, XM_005263842.3:c.166A>G, XM_005263842.2:c.166A>G, XM_005263842.1:c.166A>G, XM_006712837.3:c.166A>G, XM_006712837.2:c.166A>G, XM_006712837.1:c.166A>G, NM_001258307.2:c.166A>G, NM_001258307.1:c.166A>G, XM_011512147.2:c.166A>G, XM_011512147.1:c.166A>G, XM_047446279.1:c.-366A>G, XM_047446278.1:c.-240A>G, NR_165309.1:n.282A>G, XM_047446281.1:c.-240A>G, XM_047446276.1:c.166A>G, XM_047446277.1:c.166A>G, XM_047446280.1:c.166A>G, XP_006712897.1:p.Ser56Gly, NP_997193.1:p.Ser56Gly, XP_006712896.1:p.Ser56Gly, XP_005263897.1:p.Ser56Gly, XP_006712898.1:p.Ser56Gly, XP_005263899.1:p.Ser56Gly, XP_006712900.1:p.Ser56Gly, NP_001245236.1:p.Ser56Gly, XP_011510449.1:p.Ser56Gly, XP_047302232.1:p.Ser56Gly, XP_047302233.1:p.Ser56Gly, XP_047302236.1:p.Ser56Gly

                                      19.

                                      rs1469131678 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:130143286 (GRCh38)
                                        2:130900859 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:130143285:T:C
                                        Gene:
                                        CCDC74B (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.130143286T>C, NC_000002.11:g.130900859T>C, NW_025791762.1:g.319846T>C, XM_006712834.4:c.278A>G, XM_006712834.3:c.278A>G, XM_006712834.2:c.278A>G, XM_006712834.1:c.278A>G, NM_207310.4:c.278A>G, NM_207310.3:c.278A>G, NM_207310.2:c.278A>G, XM_006712833.3:c.404A>G, XM_006712833.2:c.404A>G, XM_006712833.1:c.404A>G, XM_005263840.3:c.404A>G, XM_005263840.2:c.404A>G, XM_005263840.1:c.404A>G, XM_006712835.3:c.404A>G, XM_006712835.2:c.404A>G, XM_006712835.1:c.404A>G, XM_005263842.3:c.404A>G, XM_005263842.2:c.404A>G, XM_005263842.1:c.404A>G, XM_006712837.3:c.278A>G, XM_006712837.2:c.278A>G, XM_006712837.1:c.278A>G, NM_001258307.2:c.278A>G, NM_001258307.1:c.278A>G, XM_011512147.2:c.404A>G, XM_011512147.1:c.404A>G, XM_047446279.1:c.8A>G, XM_047446278.1:c.8A>G, NR_165309.1:n.520A>G, XM_047446281.1:c.8A>G, XM_047446276.1:c.404A>G, XM_047446277.1:c.404A>G, XM_047446280.1:c.404A>G, XP_006712897.1:p.Gln93Arg, NP_997193.1:p.Gln93Arg, XP_006712896.1:p.Gln135Arg, XP_005263897.1:p.Gln135Arg, XP_006712898.1:p.Gln135Arg, XP_005263899.1:p.Gln135Arg, XP_006712900.1:p.Gln93Arg, NP_001245236.1:p.Gln93Arg, XP_011510449.1:p.Gln135Arg, XP_047302235.1:p.Gln3Arg, XP_047302234.1:p.Gln3Arg, XP_047302237.1:p.Gln3Arg, XP_047302232.1:p.Gln135Arg, XP_047302233.1:p.Gln135Arg, XP_047302236.1:p.Gln135Arg

                                        20.

                                        rs1464112035 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:130142286 (GRCh38)
                                          2:130899859 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:130142285:T:C
                                          Gene:
                                          CCDC74B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000546/1 (Korea1K)
                                          HGVS:
                                          NC_000002.12:g.130142286T>C, NC_000002.11:g.130899859T>C, NW_025791762.1:g.318846T>C, XM_006712834.4:c.391A>G, XM_006712834.3:c.391A>G, XM_006712834.2:c.391A>G, XM_006712834.1:c.391A>G, NM_207310.4:c.391A>G, NM_207310.3:c.391A>G, NM_207310.2:c.391A>G, XM_011512142.3:c.697A>G, XM_011512142.2:c.697A>G, XM_011512142.1:c.697A>G, XM_006712833.3:c.517A>G, XM_006712833.2:c.517A>G, XM_006712833.1:c.517A>G, XM_005263840.3:c.517A>G, XM_005263840.2:c.517A>G, XM_005263840.1:c.517A>G, XM_011512147.2:c.517A>G, XM_011512147.1:c.517A>G, XM_047446279.1:c.121A>G, XM_047446278.1:c.121A>G, XM_047446276.1:c.517A>G, XM_047446277.1:c.517A>G, XP_006712897.1:p.Ser131Gly, NP_997193.1:p.Ser131Gly, XP_011510444.1:p.Ser233Gly, XP_006712896.1:p.Ser173Gly, XP_005263897.1:p.Ser173Gly, XP_011510449.1:p.Ser173Gly, XP_047302235.1:p.Ser41Gly, XP_047302234.1:p.Ser41Gly, XP_047302232.1:p.Ser173Gly, XP_047302233.1:p.Ser173Gly

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