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Items: 1 to 20 of 280

1.

rs1483150002 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:29051096 (GRCh38)
    8:28908613 (GRCh37)
    Canonical SPDI:
    NC_000008.11:29051095:T:C
    Gene:
    HMBOX1 (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.29051096T>C, NC_000008.10:g.28908613T>C, NM_024567.4:c.1204T>C, NM_024567.3:c.1204T>C, XM_017013823.3:c.1276T>C, XM_017013823.2:c.1276T>C, XM_017013823.1:c.1276T>C, NM_001135726.3:c.1204T>C, NM_001135726.2:c.1204T>C, NM_001135726.1:c.1204T>C, NM_001324393.2:c.*88T>C, NM_001324393.1:c.*88T>C, NR_136758.2:n.1724T>C, NR_136758.1:n.1749T>C, NM_001324389.2:c.*88T>C, NM_001324389.1:c.*88T>C, NM_001324391.2:c.*88T>C, NM_001324391.1:c.*88T>C, NM_001324394.2:c.*88T>C, NM_001324394.1:c.*88T>C, NM_001324383.2:c.1276T>C, NM_001324383.1:c.1276T>C, NM_001330498.2:c.1273T>C, NM_001330498.1:c.1273T>C, NM_001324385.2:c.1270T>C, NM_001324385.1:c.1270T>C, NM_001324395.2:c.*104T>C, NM_001324395.1:c.*104T>C, NR_136757.2:n.1561T>C, NR_136757.1:n.1586T>C, NM_001324386.2:c.1201T>C, NM_001324386.1:c.1201T>C, NM_001324387.2:c.1198T>C, NM_001324387.1:c.1198T>C, NM_001324382.2:c.1204T>C, NM_001324382.1:c.1204T>C, NM_001324388.2:c.1198T>C, NM_001324388.1:c.1198T>C, NM_001324390.1:c.*88T>C, NM_001324392.1:c.*88T>C, XM_047422220.1:c.1273T>C, XM_047422219.1:c.1276T>C, NM_001324384.1:c.1276T>C, XM_047422221.1:c.1270T>C, XM_047422224.1:c.1204T>C, XM_047422227.1:c.1201T>C, XM_047422222.1:c.1204T>C, XM_047422228.1:c.1201T>C, XM_047422223.1:c.1204T>C, XM_047422218.1:c.1276T>C, XM_047422226.1:c.1201T>C

    2.

    rs1480711855 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:28970151 (GRCh38)
      8:28827668 (GRCh37)
      Canonical SPDI:
      NC_000008.11:28970150:C:T
      Gene:
      HMBOX1 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000008.11:g.28970151C>T, NC_000008.10:g.28827668C>T, NM_024567.4:c.132C>T, NM_024567.3:c.132C>T, XM_017013823.3:c.132C>T, XM_017013823.2:c.132C>T, XM_017013823.1:c.132C>T, NM_001135726.3:c.132C>T, NM_001135726.2:c.132C>T, NM_001135726.1:c.132C>T, XM_006716398.3:c.132C>T, XM_006716398.2:c.132C>T, XM_006716398.1:c.132C>T, XM_011544642.3:c.132C>T, XM_011544642.2:c.132C>T, XM_011544642.1:c.132C>T, NM_001324393.2:c.132C>T, NM_001324393.1:c.132C>T, NR_136758.2:n.473C>T, NR_136758.1:n.498C>T, NM_001324389.2:c.132C>T, NM_001324389.1:c.132C>T, NM_001324391.2:c.132C>T, NM_001324391.1:c.132C>T, NM_001324394.2:c.132C>T, NM_001324394.1:c.132C>T, NM_001324383.2:c.132C>T, NM_001324383.1:c.132C>T, NM_001330498.2:c.132C>T, NM_001330498.1:c.132C>T, NM_001324385.2:c.132C>T, NM_001324385.1:c.132C>T, NM_001324395.2:c.132C>T, NM_001324395.1:c.132C>T, NR_136757.2:n.473C>T, NR_136757.1:n.498C>T, NM_001324386.2:c.132C>T, NM_001324386.1:c.132C>T, NM_001324387.2:c.132C>T, NM_001324387.1:c.132C>T, NM_001324382.2:c.132C>T, NM_001324382.1:c.132C>T, NM_001324388.2:c.132C>T, NM_001324388.1:c.132C>T, XR_001745595.2:n.473C>T, XR_001745595.1:n.474C>T, XM_017013825.2:c.132C>T, XM_017013825.1:c.132C>T, NM_001324390.1:c.132C>T, NM_001324392.1:c.132C>T, XM_047422220.1:c.132C>T, XM_047422219.1:c.132C>T, NM_001324384.1:c.132C>T, XM_047422221.1:c.132C>T, XM_047422224.1:c.132C>T, XM_047422227.1:c.132C>T, XM_047422222.1:c.132C>T, XM_047422228.1:c.132C>T, XM_047422223.1:c.132C>T, XM_047422218.1:c.132C>T, XM_047422229.1:c.132C>T, XM_047422226.1:c.132C>T

      3.

      rs1474912584 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:29051081 (GRCh38)
        8:28908598 (GRCh37)
        Canonical SPDI:
        NC_000008.11:29051080:G:A
        Gene:
        HMBOX1 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_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_000008.11:g.29051081G>A, NC_000008.10:g.28908598G>A, NM_024567.4:c.1189G>A, NM_024567.3:c.1189G>A, XM_017013823.3:c.1261G>A, XM_017013823.2:c.1261G>A, XM_017013823.1:c.1261G>A, NM_001135726.3:c.1189G>A, NM_001135726.2:c.1189G>A, NM_001135726.1:c.1189G>A, NM_001324393.2:c.*73G>A, NM_001324393.1:c.*73G>A, NR_136758.2:n.1709G>A, NR_136758.1:n.1734G>A, NM_001324389.2:c.*73G>A, NM_001324389.1:c.*73G>A, NM_001324391.2:c.*73G>A, NM_001324391.1:c.*73G>A, NM_001324394.2:c.*73G>A, NM_001324394.1:c.*73G>A, NM_001324383.2:c.1261G>A, NM_001324383.1:c.1261G>A, NM_001330498.2:c.1258G>A, NM_001330498.1:c.1258G>A, NM_001324385.2:c.1255G>A, NM_001324385.1:c.1255G>A, NM_001324395.2:c.*89G>A, NM_001324395.1:c.*89G>A, NR_136757.2:n.1546G>A, NR_136757.1:n.1571G>A, NM_001324386.2:c.1186G>A, NM_001324386.1:c.1186G>A, NM_001324387.2:c.1183G>A, NM_001324387.1:c.1183G>A, NM_001324382.2:c.1189G>A, NM_001324382.1:c.1189G>A, NM_001324388.2:c.1183G>A, NM_001324388.1:c.1183G>A, NM_001324390.1:c.*73G>A, NM_001324392.1:c.*73G>A, XM_047422220.1:c.1258G>A, XM_047422219.1:c.1261G>A, NM_001324384.1:c.1261G>A, XM_047422221.1:c.1255G>A, XM_047422224.1:c.1189G>A, XM_047422227.1:c.1186G>A, XM_047422222.1:c.1189G>A, XM_047422228.1:c.1186G>A, XM_047422223.1:c.1189G>A, XM_047422218.1:c.1261G>A, XM_047422226.1:c.1186G>A, NP_078843.2:p.Val397Ile, XP_016869312.1:p.Val421Ile, NP_001129198.1:p.Val397Ile, NP_001311312.1:p.Val421Ile, NP_001317427.1:p.Val420Ile, NP_001311314.1:p.Val419Ile, NP_001311315.1:p.Val396Ile, NP_001311316.1:p.Val395Ile, NP_001311311.1:p.Val397Ile, NP_001311317.1:p.Val395Ile, XP_047278176.1:p.Val420Ile, XP_047278175.1:p.Val421Ile, NP_001311313.1:p.Val421Ile, XP_047278177.1:p.Val419Ile, XP_047278180.1:p.Val397Ile, XP_047278183.1:p.Val396Ile, XP_047278178.1:p.Val397Ile, XP_047278184.1:p.Val396Ile, XP_047278179.1:p.Val397Ile, XP_047278174.1:p.Val421Ile, XP_047278182.1:p.Val396Ile

        4.

        rs1474073486 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:29045409 (GRCh38)
          8:28902926 (GRCh37)
          Canonical SPDI:
          NC_000008.11:29045408:T:C
          Gene:
          HMBOX1 (Varview)
          Functional Consequence:
          synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000142/2 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (TOPMED)
          HGVS:
          NC_000008.11:g.29045409T>C, NC_000008.10:g.28902926T>C, NM_024567.4:c.900T>C, NM_024567.3:c.900T>C, XM_017013823.3:c.900T>C, XM_017013823.2:c.900T>C, XM_017013823.1:c.900T>C, NM_001135726.3:c.900T>C, NM_001135726.2:c.900T>C, NM_001135726.1:c.900T>C, XM_006716398.3:c.900T>C, XM_006716398.2:c.900T>C, XM_006716398.1:c.900T>C, NM_001324393.2:c.900T>C, NM_001324393.1:c.900T>C, NR_136758.2:n.1241T>C, NR_136758.1:n.1266T>C, NM_001324389.2:c.900T>C, NM_001324389.1:c.900T>C, NM_001324391.2:c.900T>C, NM_001324391.1:c.900T>C, NM_001324394.2:c.900T>C, NM_001324394.1:c.900T>C, NM_001324383.2:c.900T>C, NM_001324383.1:c.900T>C, NM_001330498.2:c.900T>C, NM_001330498.1:c.900T>C, NM_001324385.2:c.900T>C, NM_001324385.1:c.900T>C, NM_001324395.2:c.900T>C, NM_001324395.1:c.900T>C, NR_136757.2:n.1155T>C, NR_136757.1:n.1180T>C, NM_001324386.2:c.900T>C, NM_001324386.1:c.900T>C, NM_001324387.2:c.900T>C, NM_001324387.1:c.900T>C, NM_001324382.2:c.900T>C, NM_001324382.1:c.900T>C, NM_001324388.2:c.900T>C, NM_001324388.1:c.900T>C, XM_017013825.2:c.*65T>C, NM_001324390.1:c.900T>C, NM_001324392.1:c.900T>C, XM_047422220.1:c.900T>C, XM_047422219.1:c.900T>C, NM_001324384.1:c.900T>C, XM_047422221.1:c.900T>C, XM_047422224.1:c.900T>C, XM_047422227.1:c.900T>C, XM_047422222.1:c.900T>C, XM_047422228.1:c.900T>C, XM_047422223.1:c.900T>C, XM_047422218.1:c.900T>C, XM_047422229.1:c.*2329T>C, XM_047422226.1:c.900T>C

          5.

          rs1471155520 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:28970326 (GRCh38)
            8:28827843 (GRCh37)
            Canonical SPDI:
            NC_000008.11:28970325:A:G
            Gene:
            HMBOX1 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000015/4 (TOPMED)
            HGVS:
            NC_000008.11:g.28970326A>G, NC_000008.10:g.28827843A>G, NM_024567.4:c.307A>G, NM_024567.3:c.307A>G, XM_017013823.3:c.307A>G, XM_017013823.2:c.307A>G, XM_017013823.1:c.307A>G, NM_001135726.3:c.307A>G, NM_001135726.2:c.307A>G, NM_001135726.1:c.307A>G, XM_006716398.3:c.307A>G, XM_006716398.2:c.307A>G, XM_006716398.1:c.307A>G, XM_011544642.3:c.307A>G, XM_011544642.2:c.307A>G, XM_011544642.1:c.307A>G, NM_001324393.2:c.307A>G, NM_001324393.1:c.307A>G, NR_136758.2:n.648A>G, NR_136758.1:n.673A>G, NM_001324389.2:c.307A>G, NM_001324389.1:c.307A>G, NM_001324391.2:c.307A>G, NM_001324391.1:c.307A>G, NM_001324394.2:c.307A>G, NM_001324394.1:c.307A>G, NM_001324383.2:c.307A>G, NM_001324383.1:c.307A>G, NM_001330498.2:c.307A>G, NM_001330498.1:c.307A>G, NM_001324385.2:c.307A>G, NM_001324385.1:c.307A>G, NM_001324395.2:c.307A>G, NM_001324395.1:c.307A>G, NR_136757.2:n.648A>G, NR_136757.1:n.673A>G, NM_001324386.2:c.307A>G, NM_001324386.1:c.307A>G, NM_001324387.2:c.307A>G, NM_001324387.1:c.307A>G, NM_001324382.2:c.307A>G, NM_001324382.1:c.307A>G, NM_001324388.2:c.307A>G, NM_001324388.1:c.307A>G, XR_001745595.2:n.648A>G, XR_001745595.1:n.649A>G, XM_017013825.2:c.307A>G, XM_017013825.1:c.307A>G, NM_001324390.1:c.307A>G, NM_001324392.1:c.307A>G, XM_047422220.1:c.307A>G, XM_047422219.1:c.307A>G, NM_001324384.1:c.307A>G, XM_047422221.1:c.307A>G, XM_047422224.1:c.307A>G, XM_047422227.1:c.307A>G, XM_047422222.1:c.307A>G, XM_047422228.1:c.307A>G, XM_047422223.1:c.307A>G, XM_047422218.1:c.307A>G, XM_047422229.1:c.307A>G, XM_047422226.1:c.307A>G, NP_078843.2:p.Asn103Asp, XP_016869312.1:p.Asn103Asp, NP_001129198.1:p.Asn103Asp, XP_006716461.1:p.Asn103Asp, XP_011542944.1:p.Asn103Asp, NP_001311322.1:p.Asn103Asp, NP_001311318.1:p.Asn103Asp, NP_001311320.1:p.Asn103Asp, NP_001311323.1:p.Asn103Asp, NP_001311312.1:p.Asn103Asp, NP_001317427.1:p.Asn103Asp, NP_001311314.1:p.Asn103Asp, NP_001311324.1:p.Asn103Asp, NP_001311315.1:p.Asn103Asp, NP_001311316.1:p.Asn103Asp, NP_001311311.1:p.Asn103Asp, NP_001311317.1:p.Asn103Asp, XP_016869314.1:p.Asn103Asp, NP_001311319.1:p.Asn103Asp, NP_001311321.1:p.Asn103Asp, XP_047278176.1:p.Asn103Asp, XP_047278175.1:p.Asn103Asp, NP_001311313.1:p.Asn103Asp, XP_047278177.1:p.Asn103Asp, XP_047278180.1:p.Asn103Asp, XP_047278183.1:p.Asn103Asp, XP_047278178.1:p.Asn103Asp, XP_047278184.1:p.Asn103Asp, XP_047278179.1:p.Asn103Asp, XP_047278174.1:p.Asn103Asp, XP_047278185.1:p.Asn103Asp, XP_047278182.1:p.Asn103Asp

            6.

            rs1470092463 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:29051093 (GRCh38)
              8:28908610 (GRCh37)
              Canonical SPDI:
              NC_000008.11:29051092:A:G
              Gene:
              HMBOX1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_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)
              G=0.000035/1 (TOMMO)
              HGVS:
              NC_000008.11:g.29051093A>G, NC_000008.10:g.28908610A>G, NM_024567.4:c.1201A>G, NM_024567.3:c.1201A>G, XM_017013823.3:c.1273A>G, XM_017013823.2:c.1273A>G, XM_017013823.1:c.1273A>G, NM_001135726.3:c.1201A>G, NM_001135726.2:c.1201A>G, NM_001135726.1:c.1201A>G, NM_001324393.2:c.*85A>G, NM_001324393.1:c.*85A>G, NR_136758.2:n.1721A>G, NR_136758.1:n.1746A>G, NM_001324389.2:c.*85A>G, NM_001324389.1:c.*85A>G, NM_001324391.2:c.*85A>G, NM_001324391.1:c.*85A>G, NM_001324394.2:c.*85A>G, NM_001324394.1:c.*85A>G, NM_001324383.2:c.1273A>G, NM_001324383.1:c.1273A>G, NM_001330498.2:c.1270A>G, NM_001330498.1:c.1270A>G, NM_001324385.2:c.1267A>G, NM_001324385.1:c.1267A>G, NM_001324395.2:c.*101A>G, NM_001324395.1:c.*101A>G, NR_136757.2:n.1558A>G, NR_136757.1:n.1583A>G, NM_001324386.2:c.1198A>G, NM_001324386.1:c.1198A>G, NM_001324387.2:c.1195A>G, NM_001324387.1:c.1195A>G, NM_001324382.2:c.1201A>G, NM_001324382.1:c.1201A>G, NM_001324388.2:c.1195A>G, NM_001324388.1:c.1195A>G, NM_001324390.1:c.*85A>G, NM_001324392.1:c.*85A>G, XM_047422220.1:c.1270A>G, XM_047422219.1:c.1273A>G, NM_001324384.1:c.1273A>G, XM_047422221.1:c.1267A>G, XM_047422224.1:c.1201A>G, XM_047422227.1:c.1198A>G, XM_047422222.1:c.1201A>G, XM_047422228.1:c.1198A>G, XM_047422223.1:c.1201A>G, XM_047422218.1:c.1273A>G, XM_047422226.1:c.1198A>G, NP_078843.2:p.Ile401Val, XP_016869312.1:p.Ile425Val, NP_001129198.1:p.Ile401Val, NP_001311312.1:p.Ile425Val, NP_001317427.1:p.Ile424Val, NP_001311314.1:p.Ile423Val, NP_001311315.1:p.Ile400Val, NP_001311316.1:p.Ile399Val, NP_001311311.1:p.Ile401Val, NP_001311317.1:p.Ile399Val, XP_047278176.1:p.Ile424Val, XP_047278175.1:p.Ile425Val, NP_001311313.1:p.Ile425Val, XP_047278177.1:p.Ile423Val, XP_047278180.1:p.Ile401Val, XP_047278183.1:p.Ile400Val, XP_047278178.1:p.Ile401Val, XP_047278184.1:p.Ile400Val, XP_047278179.1:p.Ile401Val, XP_047278174.1:p.Ile425Val, XP_047278182.1:p.Ile400Val

              7.

              rs1452287537 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                8:29018829 (GRCh38)
                8:28876346 (GRCh37)
                Canonical SPDI:
                NC_000008.11:29018828:C:G,NC_000008.11:29018828:C:T
                Gene:
                HMBOX1 (Varview), LOC105379346 (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_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_000008.11:g.29018829C>G, NC_000008.11:g.29018829C>T, NC_000008.10:g.28876346C>G, NC_000008.10:g.28876346C>T, NM_024567.4:c.767C>G, NM_024567.4:c.767C>T, NM_024567.3:c.767C>G, NM_024567.3:c.767C>T, XM_017013823.3:c.767C>G, XM_017013823.3:c.767C>T, XM_017013823.2:c.767C>G, XM_017013823.2:c.767C>T, XM_017013823.1:c.767C>G, XM_017013823.1:c.767C>T, NM_001135726.3:c.767C>G, NM_001135726.3:c.767C>T, NM_001135726.2:c.767C>G, NM_001135726.2:c.767C>T, NM_001135726.1:c.767C>G, NM_001135726.1:c.767C>T, XM_006716398.3:c.767C>G, XM_006716398.3:c.767C>T, XM_006716398.2:c.767C>G, XM_006716398.2:c.767C>T, XM_006716398.1:c.767C>G, XM_006716398.1:c.767C>T, NM_001324393.2:c.767C>G, NM_001324393.2:c.767C>T, NM_001324393.1:c.767C>G, NM_001324393.1:c.767C>T, NR_136758.2:n.1108C>G, NR_136758.2:n.1108C>T, NR_136758.1:n.1133C>G, NR_136758.1:n.1133C>T, NM_001324389.2:c.767C>G, NM_001324389.2:c.767C>T, NM_001324389.1:c.767C>G, NM_001324389.1:c.767C>T, NM_001324391.2:c.767C>G, NM_001324391.2:c.767C>T, NM_001324391.1:c.767C>G, NM_001324391.1:c.767C>T, NM_001324394.2:c.767C>G, NM_001324394.2:c.767C>T, NM_001324394.1:c.767C>G, NM_001324394.1:c.767C>T, NM_001324383.2:c.767C>G, NM_001324383.2:c.767C>T, NM_001324383.1:c.767C>G, NM_001324383.1:c.767C>T, NM_001330498.2:c.767C>G, NM_001330498.2:c.767C>T, NM_001330498.1:c.767C>G, NM_001330498.1:c.767C>T, NM_001324385.2:c.767C>G, NM_001324385.2:c.767C>T, NM_001324385.1:c.767C>G, NM_001324385.1:c.767C>T, NM_001324395.2:c.767C>G, NM_001324395.2:c.767C>T, NM_001324395.1:c.767C>G, NM_001324395.1:c.767C>T, NR_136757.2:n.1022C>G, NR_136757.2:n.1022C>T, NR_136757.1:n.1047C>G, NR_136757.1:n.1047C>T, NM_001324386.2:c.767C>G, NM_001324386.2:c.767C>T, NM_001324386.1:c.767C>G, NM_001324386.1:c.767C>T, NM_001324387.2:c.767C>G, NM_001324387.2:c.767C>T, NM_001324387.1:c.767C>G, NM_001324387.1:c.767C>T, NM_001324382.2:c.767C>G, NM_001324382.2:c.767C>T, NM_001324382.1:c.767C>G, NM_001324382.1:c.767C>T, NM_001324388.2:c.767C>G, NM_001324388.2:c.767C>T, NM_001324388.1:c.767C>G, NM_001324388.1:c.767C>T, XM_017013825.2:c.767C>G, XM_017013825.2:c.767C>T, XM_017013825.1:c.767C>G, XM_017013825.1:c.767C>T, NM_001324390.1:c.767C>G, NM_001324390.1:c.767C>T, NM_001324392.1:c.767C>G, NM_001324392.1:c.767C>T, XM_047422220.1:c.767C>G, XM_047422220.1:c.767C>T, XM_047422219.1:c.767C>G, XM_047422219.1:c.767C>T, NM_001324384.1:c.767C>G, NM_001324384.1:c.767C>T, XM_047422221.1:c.767C>G, XM_047422221.1:c.767C>T, XM_047422224.1:c.767C>G, XM_047422224.1:c.767C>T, XM_047422227.1:c.767C>G, XM_047422227.1:c.767C>T, XM_047422222.1:c.767C>G, XM_047422222.1:c.767C>T, XM_047422228.1:c.767C>G, XM_047422228.1:c.767C>T, XM_047422223.1:c.767C>G, XM_047422223.1:c.767C>T, XM_047422218.1:c.767C>G, XM_047422218.1:c.767C>T, XM_047422229.1:c.767C>G, XM_047422229.1:c.767C>T, XM_047422226.1:c.767C>G, XM_047422226.1:c.767C>T, NP_078843.2:p.Pro256Arg, NP_078843.2:p.Pro256Leu, XP_016869312.1:p.Pro256Arg, XP_016869312.1:p.Pro256Leu, NP_001129198.1:p.Pro256Arg, NP_001129198.1:p.Pro256Leu, XP_006716461.1:p.Pro256Arg, XP_006716461.1:p.Pro256Leu, NP_001311322.1:p.Pro256Arg, NP_001311322.1:p.Pro256Leu, NP_001311318.1:p.Pro256Arg, NP_001311318.1:p.Pro256Leu, NP_001311320.1:p.Pro256Arg, NP_001311320.1:p.Pro256Leu, NP_001311323.1:p.Pro256Arg, NP_001311323.1:p.Pro256Leu, NP_001311312.1:p.Pro256Arg, NP_001311312.1:p.Pro256Leu, NP_001317427.1:p.Pro256Arg, NP_001317427.1:p.Pro256Leu, NP_001311314.1:p.Pro256Arg, NP_001311314.1:p.Pro256Leu, NP_001311324.1:p.Pro256Arg, NP_001311324.1:p.Pro256Leu, NP_001311315.1:p.Pro256Arg, NP_001311315.1:p.Pro256Leu, NP_001311316.1:p.Pro256Arg, NP_001311316.1:p.Pro256Leu, NP_001311311.1:p.Pro256Arg, NP_001311311.1:p.Pro256Leu, NP_001311317.1:p.Pro256Arg, NP_001311317.1:p.Pro256Leu, XP_016869314.1:p.Pro256Arg, XP_016869314.1:p.Pro256Leu, NP_001311319.1:p.Pro256Arg, NP_001311319.1:p.Pro256Leu, NP_001311321.1:p.Pro256Arg, NP_001311321.1:p.Pro256Leu, XP_047278176.1:p.Pro256Arg, XP_047278176.1:p.Pro256Leu, XP_047278175.1:p.Pro256Arg, XP_047278175.1:p.Pro256Leu, NP_001311313.1:p.Pro256Arg, NP_001311313.1:p.Pro256Leu, XP_047278177.1:p.Pro256Arg, XP_047278177.1:p.Pro256Leu, XP_047278180.1:p.Pro256Arg, XP_047278180.1:p.Pro256Leu, XP_047278183.1:p.Pro256Arg, XP_047278183.1:p.Pro256Leu, XP_047278178.1:p.Pro256Arg, XP_047278178.1:p.Pro256Leu, XP_047278184.1:p.Pro256Arg, XP_047278184.1:p.Pro256Leu, XP_047278179.1:p.Pro256Arg, XP_047278179.1:p.Pro256Leu, XP_047278174.1:p.Pro256Arg, XP_047278174.1:p.Pro256Leu, XP_047278185.1:p.Pro256Arg, XP_047278185.1:p.Pro256Leu, XP_047278182.1:p.Pro256Arg, XP_047278182.1:p.Pro256Leu

                8.

                rs1450465797 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:28970399 (GRCh38)
                  8:28827916 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:28970398:C:T
                  Gene:
                  HMBOX1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  T=0.000016/4 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.28970399C>T, NC_000008.10:g.28827916C>T, NM_024567.4:c.380C>T, NM_024567.3:c.380C>T, XM_017013823.3:c.380C>T, XM_017013823.2:c.380C>T, XM_017013823.1:c.380C>T, NM_001135726.3:c.380C>T, NM_001135726.2:c.380C>T, NM_001135726.1:c.380C>T, XM_006716398.3:c.380C>T, XM_006716398.2:c.380C>T, XM_006716398.1:c.380C>T, XM_011544642.3:c.380C>T, XM_011544642.2:c.380C>T, XM_011544642.1:c.380C>T, NM_001324393.2:c.380C>T, NM_001324393.1:c.380C>T, NR_136758.2:n.721C>T, NR_136758.1:n.746C>T, NM_001324389.2:c.380C>T, NM_001324389.1:c.380C>T, NM_001324391.2:c.380C>T, NM_001324391.1:c.380C>T, NM_001324394.2:c.380C>T, NM_001324394.1:c.380C>T, NM_001324383.2:c.380C>T, NM_001324383.1:c.380C>T, NM_001330498.2:c.380C>T, NM_001330498.1:c.380C>T, NM_001324385.2:c.380C>T, NM_001324385.1:c.380C>T, NM_001324395.2:c.380C>T, NM_001324395.1:c.380C>T, NR_136757.2:n.721C>T, NR_136757.1:n.746C>T, NM_001324386.2:c.380C>T, NM_001324386.1:c.380C>T, NM_001324387.2:c.380C>T, NM_001324387.1:c.380C>T, NM_001324382.2:c.380C>T, NM_001324382.1:c.380C>T, NM_001324388.2:c.380C>T, NM_001324388.1:c.380C>T, XR_001745595.2:n.721C>T, XR_001745595.1:n.722C>T, XM_017013825.2:c.380C>T, XM_017013825.1:c.380C>T, NM_001324390.1:c.380C>T, NM_001324392.1:c.380C>T, XM_047422220.1:c.380C>T, XM_047422219.1:c.380C>T, NM_001324384.1:c.380C>T, XM_047422221.1:c.380C>T, XM_047422224.1:c.380C>T, XM_047422227.1:c.380C>T, XM_047422222.1:c.380C>T, XM_047422228.1:c.380C>T, XM_047422223.1:c.380C>T, XM_047422218.1:c.380C>T, XM_047422229.1:c.380C>T, XM_047422226.1:c.380C>T, NP_078843.2:p.Thr127Ile, XP_016869312.1:p.Thr127Ile, NP_001129198.1:p.Thr127Ile, XP_006716461.1:p.Thr127Ile, XP_011542944.1:p.Thr127Ile, NP_001311322.1:p.Thr127Ile, NP_001311318.1:p.Thr127Ile, NP_001311320.1:p.Thr127Ile, NP_001311323.1:p.Thr127Ile, NP_001311312.1:p.Thr127Ile, NP_001317427.1:p.Thr127Ile, NP_001311314.1:p.Thr127Ile, NP_001311324.1:p.Thr127Ile, NP_001311315.1:p.Thr127Ile, NP_001311316.1:p.Thr127Ile, NP_001311311.1:p.Thr127Ile, NP_001311317.1:p.Thr127Ile, XP_016869314.1:p.Thr127Ile, NP_001311319.1:p.Thr127Ile, NP_001311321.1:p.Thr127Ile, XP_047278176.1:p.Thr127Ile, XP_047278175.1:p.Thr127Ile, NP_001311313.1:p.Thr127Ile, XP_047278177.1:p.Thr127Ile, XP_047278180.1:p.Thr127Ile, XP_047278183.1:p.Thr127Ile, XP_047278178.1:p.Thr127Ile, XP_047278184.1:p.Thr127Ile, XP_047278179.1:p.Thr127Ile, XP_047278174.1:p.Thr127Ile, XP_047278185.1:p.Thr127Ile, XP_047278182.1:p.Thr127Ile

                  9.

                  rs1448699566 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    8:28970494 (GRCh38)
                    8:28828011 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:28970493:G:C
                    Gene:
                    HMBOX1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000008.11:g.28970494G>C, NC_000008.10:g.28828011G>C, NM_024567.4:c.475G>C, NM_024567.3:c.475G>C, XM_017013823.3:c.475G>C, XM_017013823.2:c.475G>C, XM_017013823.1:c.475G>C, NM_001135726.3:c.475G>C, NM_001135726.2:c.475G>C, NM_001135726.1:c.475G>C, XM_006716398.3:c.475G>C, XM_006716398.2:c.475G>C, XM_006716398.1:c.475G>C, XM_011544642.3:c.475G>C, XM_011544642.2:c.475G>C, XM_011544642.1:c.475G>C, NM_001324393.2:c.475G>C, NM_001324393.1:c.475G>C, NR_136758.2:n.816G>C, NR_136758.1:n.841G>C, NM_001324389.2:c.475G>C, NM_001324389.1:c.475G>C, NM_001324391.2:c.475G>C, NM_001324391.1:c.475G>C, NM_001324394.2:c.475G>C, NM_001324394.1:c.475G>C, NM_001324383.2:c.475G>C, NM_001324383.1:c.475G>C, NM_001330498.2:c.475G>C, NM_001330498.1:c.475G>C, NM_001324385.2:c.475G>C, NM_001324385.1:c.475G>C, NM_001324395.2:c.475G>C, NM_001324395.1:c.475G>C, NR_136757.2:n.816G>C, NR_136757.1:n.841G>C, NM_001324386.2:c.475G>C, NM_001324386.1:c.475G>C, NM_001324387.2:c.475G>C, NM_001324387.1:c.475G>C, NM_001324382.2:c.475G>C, NM_001324382.1:c.475G>C, NM_001324388.2:c.475G>C, NM_001324388.1:c.475G>C, XR_001745595.2:n.816G>C, XR_001745595.1:n.817G>C, XM_017013825.2:c.475G>C, XM_017013825.1:c.475G>C, NM_001324390.1:c.475G>C, NM_001324392.1:c.475G>C, XM_047422220.1:c.475G>C, XM_047422219.1:c.475G>C, NM_001324384.1:c.475G>C, XM_047422221.1:c.475G>C, XM_047422224.1:c.475G>C, XM_047422227.1:c.475G>C, XM_047422222.1:c.475G>C, XM_047422228.1:c.475G>C, XM_047422223.1:c.475G>C, XM_047422218.1:c.475G>C, XM_047422229.1:c.475G>C, XM_047422226.1:c.475G>C, NP_078843.2:p.Asp159His, XP_016869312.1:p.Asp159His, NP_001129198.1:p.Asp159His, XP_006716461.1:p.Asp159His, XP_011542944.1:p.Asp159His, NP_001311322.1:p.Asp159His, NP_001311318.1:p.Asp159His, NP_001311320.1:p.Asp159His, NP_001311323.1:p.Asp159His, NP_001311312.1:p.Asp159His, NP_001317427.1:p.Asp159His, NP_001311314.1:p.Asp159His, NP_001311324.1:p.Asp159His, NP_001311315.1:p.Asp159His, NP_001311316.1:p.Asp159His, NP_001311311.1:p.Asp159His, NP_001311317.1:p.Asp159His, XP_016869314.1:p.Asp159His, NP_001311319.1:p.Asp159His, NP_001311321.1:p.Asp159His, XP_047278176.1:p.Asp159His, XP_047278175.1:p.Asp159His, NP_001311313.1:p.Asp159His, XP_047278177.1:p.Asp159His, XP_047278180.1:p.Asp159His, XP_047278183.1:p.Asp159His, XP_047278178.1:p.Asp159His, XP_047278184.1:p.Asp159His, XP_047278179.1:p.Asp159His, XP_047278174.1:p.Asp159His, XP_047278185.1:p.Asp159His, XP_047278182.1:p.Asp159His

                    10.

                    rs1443438097 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      8:28970359 (GRCh38)
                      8:28827876 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:28970358:A:G
                      Gene:
                      HMBOX1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000008/2 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000008.11:g.28970359A>G, NC_000008.10:g.28827876A>G, NM_024567.4:c.340A>G, NM_024567.3:c.340A>G, XM_017013823.3:c.340A>G, XM_017013823.2:c.340A>G, XM_017013823.1:c.340A>G, NM_001135726.3:c.340A>G, NM_001135726.2:c.340A>G, NM_001135726.1:c.340A>G, XM_006716398.3:c.340A>G, XM_006716398.2:c.340A>G, XM_006716398.1:c.340A>G, XM_011544642.3:c.340A>G, XM_011544642.2:c.340A>G, XM_011544642.1:c.340A>G, NM_001324393.2:c.340A>G, NM_001324393.1:c.340A>G, NR_136758.2:n.681A>G, NR_136758.1:n.706A>G, NM_001324389.2:c.340A>G, NM_001324389.1:c.340A>G, NM_001324391.2:c.340A>G, NM_001324391.1:c.340A>G, NM_001324394.2:c.340A>G, NM_001324394.1:c.340A>G, NM_001324383.2:c.340A>G, NM_001324383.1:c.340A>G, NM_001330498.2:c.340A>G, NM_001330498.1:c.340A>G, NM_001324385.2:c.340A>G, NM_001324385.1:c.340A>G, NM_001324395.2:c.340A>G, NM_001324395.1:c.340A>G, NR_136757.2:n.681A>G, NR_136757.1:n.706A>G, NM_001324386.2:c.340A>G, NM_001324386.1:c.340A>G, NM_001324387.2:c.340A>G, NM_001324387.1:c.340A>G, NM_001324382.2:c.340A>G, NM_001324382.1:c.340A>G, NM_001324388.2:c.340A>G, NM_001324388.1:c.340A>G, XR_001745595.2:n.681A>G, XR_001745595.1:n.682A>G, XM_017013825.2:c.340A>G, XM_017013825.1:c.340A>G, NM_001324390.1:c.340A>G, NM_001324392.1:c.340A>G, XM_047422220.1:c.340A>G, XM_047422219.1:c.340A>G, NM_001324384.1:c.340A>G, XM_047422221.1:c.340A>G, XM_047422224.1:c.340A>G, XM_047422227.1:c.340A>G, XM_047422222.1:c.340A>G, XM_047422228.1:c.340A>G, XM_047422223.1:c.340A>G, XM_047422218.1:c.340A>G, XM_047422229.1:c.340A>G, XM_047422226.1:c.340A>G, NP_078843.2:p.Thr114Ala, XP_016869312.1:p.Thr114Ala, NP_001129198.1:p.Thr114Ala, XP_006716461.1:p.Thr114Ala, XP_011542944.1:p.Thr114Ala, NP_001311322.1:p.Thr114Ala, NP_001311318.1:p.Thr114Ala, NP_001311320.1:p.Thr114Ala, NP_001311323.1:p.Thr114Ala, NP_001311312.1:p.Thr114Ala, NP_001317427.1:p.Thr114Ala, NP_001311314.1:p.Thr114Ala, NP_001311324.1:p.Thr114Ala, NP_001311315.1:p.Thr114Ala, NP_001311316.1:p.Thr114Ala, NP_001311311.1:p.Thr114Ala, NP_001311317.1:p.Thr114Ala, XP_016869314.1:p.Thr114Ala, NP_001311319.1:p.Thr114Ala, NP_001311321.1:p.Thr114Ala, XP_047278176.1:p.Thr114Ala, XP_047278175.1:p.Thr114Ala, NP_001311313.1:p.Thr114Ala, XP_047278177.1:p.Thr114Ala, XP_047278180.1:p.Thr114Ala, XP_047278183.1:p.Thr114Ala, XP_047278178.1:p.Thr114Ala, XP_047278184.1:p.Thr114Ala, XP_047278179.1:p.Thr114Ala, XP_047278174.1:p.Thr114Ala, XP_047278185.1:p.Thr114Ala, XP_047278182.1:p.Thr114Ala

                      11.

                      rs1443310984 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:29051152 (GRCh38)
                        8:28908669 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:29051151:C:T
                        Gene:
                        HMBOX1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000008.11:g.29051152C>T, NC_000008.10:g.28908669C>T, NM_024567.4:c.1260C>T, NM_024567.3:c.1260C>T, XM_017013823.3:c.1332C>T, XM_017013823.2:c.1332C>T, XM_017013823.1:c.1332C>T, NM_001135726.3:c.1260C>T, NM_001135726.2:c.1260C>T, NM_001135726.1:c.1260C>T, NM_001324393.2:c.*144C>T, NM_001324393.1:c.*144C>T, NR_136758.2:n.1780C>T, NR_136758.1:n.1805C>T, NM_001324389.2:c.*144C>T, NM_001324389.1:c.*144C>T, NM_001324391.2:c.*144C>T, NM_001324391.1:c.*144C>T, NM_001324394.2:c.*144C>T, NM_001324394.1:c.*144C>T, NM_001324383.2:c.1332C>T, NM_001324383.1:c.1332C>T, NM_001330498.2:c.1329C>T, NM_001330498.1:c.1329C>T, NM_001324385.2:c.1326C>T, NM_001324385.1:c.1326C>T, NM_001324395.2:c.*160C>T, NM_001324395.1:c.*160C>T, NR_136757.2:n.1617C>T, NR_136757.1:n.1642C>T, NM_001324386.2:c.1257C>T, NM_001324386.1:c.1257C>T, NM_001324387.2:c.1254C>T, NM_001324387.1:c.1254C>T, NM_001324382.2:c.1260C>T, NM_001324382.1:c.1260C>T, NM_001324388.2:c.1254C>T, NM_001324388.1:c.1254C>T, NM_001324390.1:c.*144C>T, NM_001324392.1:c.*144C>T, XM_047422220.1:c.1329C>T, XM_047422219.1:c.1332C>T, NM_001324384.1:c.1332C>T, XM_047422221.1:c.1326C>T, XM_047422224.1:c.1260C>T, XM_047422227.1:c.1257C>T, XM_047422222.1:c.1260C>T, XM_047422228.1:c.1257C>T, XM_047422223.1:c.1260C>T, XM_047422218.1:c.1332C>T, XM_047422226.1:c.1257C>T

                        12.

                        rs1440318778 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          8:29009122 (GRCh38)
                          8:28866639 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:29009121:C:T
                          Gene:
                          HMBOX1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.29009122C>T, NC_000008.10:g.28866639C>T, NM_024567.4:c.637C>T, NM_024567.3:c.637C>T, XM_017013823.3:c.637C>T, XM_017013823.2:c.637C>T, XM_017013823.1:c.637C>T, NM_001135726.3:c.637C>T, NM_001135726.2:c.637C>T, NM_001135726.1:c.637C>T, XM_006716398.3:c.637C>T, XM_006716398.2:c.637C>T, XM_006716398.1:c.637C>T, XM_011544642.3:c.637C>T, XM_011544642.2:c.637C>T, XM_011544642.1:c.637C>T, NM_001324393.2:c.637C>T, NM_001324393.1:c.637C>T, NR_136758.2:n.978C>T, NR_136758.1:n.1003C>T, NM_001324389.2:c.637C>T, NM_001324389.1:c.637C>T, NM_001324391.2:c.637C>T, NM_001324391.1:c.637C>T, NM_001324394.2:c.637C>T, NM_001324394.1:c.637C>T, NM_001324383.2:c.637C>T, NM_001324383.1:c.637C>T, NM_001330498.2:c.637C>T, NM_001330498.1:c.637C>T, NM_001324385.2:c.637C>T, NM_001324385.1:c.637C>T, NM_001324395.2:c.637C>T, NM_001324395.1:c.637C>T, NR_136757.2:n.892C>T, NR_136757.1:n.917C>T, NM_001324386.2:c.637C>T, NM_001324386.1:c.637C>T, NM_001324387.2:c.637C>T, NM_001324387.1:c.637C>T, NM_001324382.2:c.637C>T, NM_001324382.1:c.637C>T, NM_001324388.2:c.637C>T, NM_001324388.1:c.637C>T, XR_001745595.2:n.978C>T, XR_001745595.1:n.979C>T, XM_017013825.2:c.637C>T, XM_017013825.1:c.637C>T, NM_001324390.1:c.637C>T, NM_001324392.1:c.637C>T, XM_047422220.1:c.637C>T, XM_047422219.1:c.637C>T, NM_001324384.1:c.637C>T, XM_047422221.1:c.637C>T, XM_047422224.1:c.637C>T, XM_047422227.1:c.637C>T, XM_047422222.1:c.637C>T, XM_047422228.1:c.637C>T, XM_047422223.1:c.637C>T, XM_047422218.1:c.637C>T, XM_047422229.1:c.637C>T, XM_047422226.1:c.637C>T

                          13.

                          rs1437433634 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:29009111 (GRCh38)
                            8:28866628 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:29009110:A:G
                            Gene:
                            HMBOX1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000008.11:g.29009111A>G, NC_000008.10:g.28866628A>G, NM_024567.4:c.626A>G, NM_024567.3:c.626A>G, XM_017013823.3:c.626A>G, XM_017013823.2:c.626A>G, XM_017013823.1:c.626A>G, NM_001135726.3:c.626A>G, NM_001135726.2:c.626A>G, NM_001135726.1:c.626A>G, XM_006716398.3:c.626A>G, XM_006716398.2:c.626A>G, XM_006716398.1:c.626A>G, XM_011544642.3:c.626A>G, XM_011544642.2:c.626A>G, XM_011544642.1:c.626A>G, NM_001324393.2:c.626A>G, NM_001324393.1:c.626A>G, NR_136758.2:n.967A>G, NR_136758.1:n.992A>G, NM_001324389.2:c.626A>G, NM_001324389.1:c.626A>G, NM_001324391.2:c.626A>G, NM_001324391.1:c.626A>G, NM_001324394.2:c.626A>G, NM_001324394.1:c.626A>G, NM_001324383.2:c.626A>G, NM_001324383.1:c.626A>G, NM_001330498.2:c.626A>G, NM_001330498.1:c.626A>G, NM_001324385.2:c.626A>G, NM_001324385.1:c.626A>G, NM_001324395.2:c.626A>G, NM_001324395.1:c.626A>G, NR_136757.2:n.881A>G, NR_136757.1:n.906A>G, NM_001324386.2:c.626A>G, NM_001324386.1:c.626A>G, NM_001324387.2:c.626A>G, NM_001324387.1:c.626A>G, NM_001324382.2:c.626A>G, NM_001324382.1:c.626A>G, NM_001324388.2:c.626A>G, NM_001324388.1:c.626A>G, XR_001745595.2:n.967A>G, XR_001745595.1:n.968A>G, XM_017013825.2:c.626A>G, XM_017013825.1:c.626A>G, NM_001324390.1:c.626A>G, NM_001324392.1:c.626A>G, XM_047422220.1:c.626A>G, XM_047422219.1:c.626A>G, NM_001324384.1:c.626A>G, XM_047422221.1:c.626A>G, XM_047422224.1:c.626A>G, XM_047422227.1:c.626A>G, XM_047422222.1:c.626A>G, XM_047422228.1:c.626A>G, XM_047422223.1:c.626A>G, XM_047422218.1:c.626A>G, XM_047422229.1:c.626A>G, XM_047422226.1:c.626A>G, NP_078843.2:p.Gln209Arg, XP_016869312.1:p.Gln209Arg, NP_001129198.1:p.Gln209Arg, XP_006716461.1:p.Gln209Arg, XP_011542944.1:p.Gln209Arg, NP_001311322.1:p.Gln209Arg, NP_001311318.1:p.Gln209Arg, NP_001311320.1:p.Gln209Arg, NP_001311323.1:p.Gln209Arg, NP_001311312.1:p.Gln209Arg, NP_001317427.1:p.Gln209Arg, NP_001311314.1:p.Gln209Arg, NP_001311324.1:p.Gln209Arg, NP_001311315.1:p.Gln209Arg, NP_001311316.1:p.Gln209Arg, NP_001311311.1:p.Gln209Arg, NP_001311317.1:p.Gln209Arg, XP_016869314.1:p.Gln209Arg, NP_001311319.1:p.Gln209Arg, NP_001311321.1:p.Gln209Arg, XP_047278176.1:p.Gln209Arg, XP_047278175.1:p.Gln209Arg, NP_001311313.1:p.Gln209Arg, XP_047278177.1:p.Gln209Arg, XP_047278180.1:p.Gln209Arg, XP_047278183.1:p.Gln209Arg, XP_047278178.1:p.Gln209Arg, XP_047278184.1:p.Gln209Arg, XP_047278179.1:p.Gln209Arg, XP_047278174.1:p.Gln209Arg, XP_047278185.1:p.Gln209Arg, XP_047278182.1:p.Gln209Arg

                            14.

                            rs1432720619 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              8:28980087 (GRCh38)
                              8:28837604 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:28980086:A:T
                              Gene:
                              HMBOX1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.28980087A>T, NC_000008.10:g.28837604A>T, NM_024567.4:c.517A>T, NM_024567.3:c.517A>T, XM_017013823.3:c.517A>T, XM_017013823.2:c.517A>T, XM_017013823.1:c.517A>T, NM_001135726.3:c.517A>T, NM_001135726.2:c.517A>T, NM_001135726.1:c.517A>T, XM_006716398.3:c.517A>T, XM_006716398.2:c.517A>T, XM_006716398.1:c.517A>T, XM_011544642.3:c.517A>T, XM_011544642.2:c.517A>T, XM_011544642.1:c.517A>T, NM_001324393.2:c.517A>T, NM_001324393.1:c.517A>T, NR_136758.2:n.858A>T, NR_136758.1:n.883A>T, NM_001324389.2:c.517A>T, NM_001324389.1:c.517A>T, NM_001324391.2:c.517A>T, NM_001324391.1:c.517A>T, NM_001324394.2:c.517A>T, NM_001324394.1:c.517A>T, NM_001324383.2:c.517A>T, NM_001324383.1:c.517A>T, NM_001330498.2:c.517A>T, NM_001330498.1:c.517A>T, NM_001324385.2:c.517A>T, NM_001324385.1:c.517A>T, NM_001324395.2:c.517A>T, NM_001324395.1:c.517A>T, NM_001324386.2:c.517A>T, NM_001324386.1:c.517A>T, NM_001324387.2:c.517A>T, NM_001324387.1:c.517A>T, NM_001324382.2:c.517A>T, NM_001324382.1:c.517A>T, NM_001324388.2:c.517A>T, NM_001324388.1:c.517A>T, XR_001745595.2:n.858A>T, XR_001745595.1:n.859A>T, XM_017013825.2:c.517A>T, XM_017013825.1:c.517A>T, NM_001324390.1:c.517A>T, NM_001324392.1:c.517A>T, XM_047422220.1:c.517A>T, XM_047422219.1:c.517A>T, NM_001324384.1:c.517A>T, XM_047422221.1:c.517A>T, XM_047422224.1:c.517A>T, XM_047422227.1:c.517A>T, XM_047422222.1:c.517A>T, XM_047422228.1:c.517A>T, XM_047422223.1:c.517A>T, XM_047422218.1:c.517A>T, XM_047422229.1:c.517A>T, XM_047422226.1:c.517A>T, NP_078843.2:p.Ile173Leu, XP_016869312.1:p.Ile173Leu, NP_001129198.1:p.Ile173Leu, XP_006716461.1:p.Ile173Leu, XP_011542944.1:p.Ile173Leu, NP_001311322.1:p.Ile173Leu, NP_001311318.1:p.Ile173Leu, NP_001311320.1:p.Ile173Leu, NP_001311323.1:p.Ile173Leu, NP_001311312.1:p.Ile173Leu, NP_001317427.1:p.Ile173Leu, NP_001311314.1:p.Ile173Leu, NP_001311324.1:p.Ile173Leu, NP_001311315.1:p.Ile173Leu, NP_001311316.1:p.Ile173Leu, NP_001311311.1:p.Ile173Leu, NP_001311317.1:p.Ile173Leu, XP_016869314.1:p.Ile173Leu, NP_001311319.1:p.Ile173Leu, NP_001311321.1:p.Ile173Leu, XP_047278176.1:p.Ile173Leu, XP_047278175.1:p.Ile173Leu, NP_001311313.1:p.Ile173Leu, XP_047278177.1:p.Ile173Leu, XP_047278180.1:p.Ile173Leu, XP_047278183.1:p.Ile173Leu, XP_047278178.1:p.Ile173Leu, XP_047278184.1:p.Ile173Leu, XP_047278179.1:p.Ile173Leu, XP_047278174.1:p.Ile173Leu, XP_047278185.1:p.Ile173Leu, XP_047278182.1:p.Ile173Leu

                              15.

                              rs1431737782 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:29018770 (GRCh38)
                                8:28876287 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:29018769:A:G
                                Gene:
                                HMBOX1 (Varview), LOC105379346 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000008.11:g.29018770A>G, NC_000008.10:g.28876287A>G, NM_024567.4:c.708A>G, NM_024567.3:c.708A>G, XM_017013823.3:c.708A>G, XM_017013823.2:c.708A>G, XM_017013823.1:c.708A>G, NM_001135726.3:c.708A>G, NM_001135726.2:c.708A>G, NM_001135726.1:c.708A>G, XM_006716398.3:c.708A>G, XM_006716398.2:c.708A>G, XM_006716398.1:c.708A>G, NM_001324393.2:c.708A>G, NM_001324393.1:c.708A>G, NR_136758.2:n.1049A>G, NR_136758.1:n.1074A>G, NM_001324389.2:c.708A>G, NM_001324389.1:c.708A>G, NM_001324391.2:c.708A>G, NM_001324391.1:c.708A>G, NM_001324394.2:c.708A>G, NM_001324394.1:c.708A>G, NM_001324383.2:c.708A>G, NM_001324383.1:c.708A>G, NM_001330498.2:c.708A>G, NM_001330498.1:c.708A>G, NM_001324385.2:c.708A>G, NM_001324385.1:c.708A>G, NM_001324395.2:c.708A>G, NM_001324395.1:c.708A>G, NR_136757.2:n.963A>G, NR_136757.1:n.988A>G, NM_001324386.2:c.708A>G, NM_001324386.1:c.708A>G, NM_001324387.2:c.708A>G, NM_001324387.1:c.708A>G, NM_001324382.2:c.708A>G, NM_001324382.1:c.708A>G, NM_001324388.2:c.708A>G, NM_001324388.1:c.708A>G, XM_017013825.2:c.708A>G, XM_017013825.1:c.708A>G, NM_001324390.1:c.708A>G, NM_001324392.1:c.708A>G, XM_047422220.1:c.708A>G, XM_047422219.1:c.708A>G, NM_001324384.1:c.708A>G, XM_047422221.1:c.708A>G, XM_047422224.1:c.708A>G, XM_047422227.1:c.708A>G, XM_047422222.1:c.708A>G, XM_047422228.1:c.708A>G, XM_047422223.1:c.708A>G, XM_047422218.1:c.708A>G, XM_047422229.1:c.708A>G, XM_047422226.1:c.708A>G

                                16.

                                rs1425151611 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  8:29051062 (GRCh38)
                                  8:28908579 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:29051061:A:T
                                  Gene:
                                  HMBOX1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000045/2 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000008.11:g.29051062A>T, NC_000008.10:g.28908579A>T, NM_024567.4:c.1170A>T, NM_024567.3:c.1170A>T, XM_017013823.3:c.1242A>T, XM_017013823.2:c.1242A>T, XM_017013823.1:c.1242A>T, NM_001135726.3:c.1170A>T, NM_001135726.2:c.1170A>T, NM_001135726.1:c.1170A>T, NM_001324393.2:c.*54A>T, NM_001324393.1:c.*54A>T, NR_136758.2:n.1690A>T, NR_136758.1:n.1715A>T, NM_001324389.2:c.*54A>T, NM_001324389.1:c.*54A>T, NM_001324391.2:c.*54A>T, NM_001324391.1:c.*54A>T, NM_001324394.2:c.*54A>T, NM_001324394.1:c.*54A>T, NM_001324383.2:c.1242A>T, NM_001324383.1:c.1242A>T, NM_001330498.2:c.1239A>T, NM_001330498.1:c.1239A>T, NM_001324385.2:c.1236A>T, NM_001324385.1:c.1236A>T, NM_001324395.2:c.*70A>T, NM_001324395.1:c.*70A>T, NR_136757.2:n.1527A>T, NR_136757.1:n.1552A>T, NM_001324386.2:c.1167A>T, NM_001324386.1:c.1167A>T, NM_001324387.2:c.1164A>T, NM_001324387.1:c.1164A>T, NM_001324382.2:c.1170A>T, NM_001324382.1:c.1170A>T, NM_001324388.2:c.1164A>T, NM_001324388.1:c.1164A>T, NM_001324390.1:c.*54A>T, NM_001324392.1:c.*54A>T, XM_047422220.1:c.1239A>T, XM_047422219.1:c.1242A>T, NM_001324384.1:c.1242A>T, XM_047422221.1:c.1236A>T, XM_047422224.1:c.1170A>T, XM_047422227.1:c.1167A>T, XM_047422222.1:c.1170A>T, XM_047422228.1:c.1167A>T, XM_047422223.1:c.1170A>T, XM_047422218.1:c.1242A>T, XM_047422226.1:c.1167A>T, NP_078843.2:p.Leu390Phe, XP_016869312.1:p.Leu414Phe, NP_001129198.1:p.Leu390Phe, NP_001311312.1:p.Leu414Phe, NP_001317427.1:p.Leu413Phe, NP_001311314.1:p.Leu412Phe, NP_001311315.1:p.Leu389Phe, NP_001311316.1:p.Leu388Phe, NP_001311311.1:p.Leu390Phe, NP_001311317.1:p.Leu388Phe, XP_047278176.1:p.Leu413Phe, XP_047278175.1:p.Leu414Phe, NP_001311313.1:p.Leu414Phe, XP_047278177.1:p.Leu412Phe, XP_047278180.1:p.Leu390Phe, XP_047278183.1:p.Leu389Phe, XP_047278178.1:p.Leu390Phe, XP_047278184.1:p.Leu389Phe, XP_047278179.1:p.Leu390Phe, XP_047278174.1:p.Leu414Phe, XP_047278182.1:p.Leu389Phe

                                  17.

                                  rs1422775367 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    8:28970064 (GRCh38)
                                    8:28827581 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:28970063:T:C
                                    Gene:
                                    HMBOX1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.28970064T>C, NC_000008.10:g.28827581T>C, NM_024567.4:c.45T>C, NM_024567.3:c.45T>C, XM_017013823.3:c.45T>C, XM_017013823.2:c.45T>C, XM_017013823.1:c.45T>C, NM_001135726.3:c.45T>C, NM_001135726.2:c.45T>C, NM_001135726.1:c.45T>C, XM_006716398.3:c.45T>C, XM_006716398.2:c.45T>C, XM_006716398.1:c.45T>C, XM_011544642.3:c.45T>C, XM_011544642.2:c.45T>C, XM_011544642.1:c.45T>C, NM_001324393.2:c.45T>C, NM_001324393.1:c.45T>C, NR_136758.2:n.386T>C, NR_136758.1:n.411T>C, NM_001324389.2:c.45T>C, NM_001324389.1:c.45T>C, NM_001324391.2:c.45T>C, NM_001324391.1:c.45T>C, NM_001324394.2:c.45T>C, NM_001324394.1:c.45T>C, NM_001324383.2:c.45T>C, NM_001324383.1:c.45T>C, NM_001330498.2:c.45T>C, NM_001330498.1:c.45T>C, NM_001324385.2:c.45T>C, NM_001324385.1:c.45T>C, NM_001324395.2:c.45T>C, NM_001324395.1:c.45T>C, NR_136757.2:n.386T>C, NR_136757.1:n.411T>C, NM_001324386.2:c.45T>C, NM_001324386.1:c.45T>C, NM_001324387.2:c.45T>C, NM_001324387.1:c.45T>C, NM_001324382.2:c.45T>C, NM_001324382.1:c.45T>C, NM_001324388.2:c.45T>C, NM_001324388.1:c.45T>C, XR_001745595.2:n.386T>C, XR_001745595.1:n.387T>C, XM_017013825.2:c.45T>C, XM_017013825.1:c.45T>C, NM_001324390.1:c.45T>C, NM_001324392.1:c.45T>C, XM_047422220.1:c.45T>C, XM_047422219.1:c.45T>C, NM_001324384.1:c.45T>C, XM_047422221.1:c.45T>C, XM_047422224.1:c.45T>C, XM_047422227.1:c.45T>C, XM_047422222.1:c.45T>C, XM_047422228.1:c.45T>C, XM_047422223.1:c.45T>C, XM_047422218.1:c.45T>C, XM_047422229.1:c.45T>C, XM_047422226.1:c.45T>C

                                    18.

                                    rs1421610050 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      8:29051112 (GRCh38)
                                      8:28908629 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:29051111:A:C
                                      Gene:
                                      HMBOX1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.29051112A>C, NC_000008.10:g.28908629A>C, NM_024567.4:c.1220A>C, NM_024567.3:c.1220A>C, XM_017013823.3:c.1292A>C, XM_017013823.2:c.1292A>C, XM_017013823.1:c.1292A>C, NM_001135726.3:c.1220A>C, NM_001135726.2:c.1220A>C, NM_001135726.1:c.1220A>C, NM_001324393.2:c.*104A>C, NM_001324393.1:c.*104A>C, NR_136758.2:n.1740A>C, NR_136758.1:n.1765A>C, NM_001324389.2:c.*104A>C, NM_001324389.1:c.*104A>C, NM_001324391.2:c.*104A>C, NM_001324391.1:c.*104A>C, NM_001324394.2:c.*104A>C, NM_001324394.1:c.*104A>C, NM_001324383.2:c.1292A>C, NM_001324383.1:c.1292A>C, NM_001330498.2:c.1289A>C, NM_001330498.1:c.1289A>C, NM_001324385.2:c.1286A>C, NM_001324385.1:c.1286A>C, NM_001324395.2:c.*120A>C, NM_001324395.1:c.*120A>C, NR_136757.2:n.1577A>C, NR_136757.1:n.1602A>C, NM_001324386.2:c.1217A>C, NM_001324386.1:c.1217A>C, NM_001324387.2:c.1214A>C, NM_001324387.1:c.1214A>C, NM_001324382.2:c.1220A>C, NM_001324382.1:c.1220A>C, NM_001324388.2:c.1214A>C, NM_001324388.1:c.1214A>C, NM_001324390.1:c.*104A>C, NM_001324392.1:c.*104A>C, XM_047422220.1:c.1289A>C, XM_047422219.1:c.1292A>C, NM_001324384.1:c.1292A>C, XM_047422221.1:c.1286A>C, XM_047422224.1:c.1220A>C, XM_047422227.1:c.1217A>C, XM_047422222.1:c.1220A>C, XM_047422228.1:c.1217A>C, XM_047422223.1:c.1220A>C, XM_047422218.1:c.1292A>C, XM_047422226.1:c.1217A>C, NP_078843.2:p.Gln407Pro, XP_016869312.1:p.Gln431Pro, NP_001129198.1:p.Gln407Pro, NP_001311312.1:p.Gln431Pro, NP_001317427.1:p.Gln430Pro, NP_001311314.1:p.Gln429Pro, NP_001311315.1:p.Gln406Pro, NP_001311316.1:p.Gln405Pro, NP_001311311.1:p.Gln407Pro, NP_001311317.1:p.Gln405Pro, XP_047278176.1:p.Gln430Pro, XP_047278175.1:p.Gln431Pro, NP_001311313.1:p.Gln431Pro, XP_047278177.1:p.Gln429Pro, XP_047278180.1:p.Gln407Pro, XP_047278183.1:p.Gln406Pro, XP_047278178.1:p.Gln407Pro, XP_047278184.1:p.Gln406Pro, XP_047278179.1:p.Gln407Pro, XP_047278174.1:p.Gln431Pro, XP_047278182.1:p.Gln406Pro

                                      19.

                                      rs1418629894 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        8:28980098 (GRCh38)
                                        8:28837615 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:28980097:A:C
                                        Gene:
                                        HMBOX1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000008.11:g.28980098A>C, NC_000008.10:g.28837615A>C, NM_024567.4:c.528A>C, NM_024567.3:c.528A>C, XM_017013823.3:c.528A>C, XM_017013823.2:c.528A>C, XM_017013823.1:c.528A>C, NM_001135726.3:c.528A>C, NM_001135726.2:c.528A>C, NM_001135726.1:c.528A>C, XM_006716398.3:c.528A>C, XM_006716398.2:c.528A>C, XM_006716398.1:c.528A>C, XM_011544642.3:c.528A>C, XM_011544642.2:c.528A>C, XM_011544642.1:c.528A>C, NM_001324393.2:c.528A>C, NM_001324393.1:c.528A>C, NR_136758.2:n.869A>C, NR_136758.1:n.894A>C, NM_001324389.2:c.528A>C, NM_001324389.1:c.528A>C, NM_001324391.2:c.528A>C, NM_001324391.1:c.528A>C, NM_001324394.2:c.528A>C, NM_001324394.1:c.528A>C, NM_001324383.2:c.528A>C, NM_001324383.1:c.528A>C, NM_001330498.2:c.528A>C, NM_001330498.1:c.528A>C, NM_001324385.2:c.528A>C, NM_001324385.1:c.528A>C, NM_001324395.2:c.528A>C, NM_001324395.1:c.528A>C, NM_001324386.2:c.528A>C, NM_001324386.1:c.528A>C, NM_001324387.2:c.528A>C, NM_001324387.1:c.528A>C, NM_001324382.2:c.528A>C, NM_001324382.1:c.528A>C, NM_001324388.2:c.528A>C, NM_001324388.1:c.528A>C, XR_001745595.2:n.869A>C, XR_001745595.1:n.870A>C, XM_017013825.2:c.528A>C, XM_017013825.1:c.528A>C, NM_001324390.1:c.528A>C, NM_001324392.1:c.528A>C, XM_047422220.1:c.528A>C, XM_047422219.1:c.528A>C, NM_001324384.1:c.528A>C, XM_047422221.1:c.528A>C, XM_047422224.1:c.528A>C, XM_047422227.1:c.528A>C, XM_047422222.1:c.528A>C, XM_047422228.1:c.528A>C, XM_047422223.1:c.528A>C, XM_047422218.1:c.528A>C, XM_047422229.1:c.528A>C, XM_047422226.1:c.528A>C, NP_078843.2:p.Glu176Asp, XP_016869312.1:p.Glu176Asp, NP_001129198.1:p.Glu176Asp, XP_006716461.1:p.Glu176Asp, XP_011542944.1:p.Glu176Asp, NP_001311322.1:p.Glu176Asp, NP_001311318.1:p.Glu176Asp, NP_001311320.1:p.Glu176Asp, NP_001311323.1:p.Glu176Asp, NP_001311312.1:p.Glu176Asp, NP_001317427.1:p.Glu176Asp, NP_001311314.1:p.Glu176Asp, NP_001311324.1:p.Glu176Asp, NP_001311315.1:p.Glu176Asp, NP_001311316.1:p.Glu176Asp, NP_001311311.1:p.Glu176Asp, NP_001311317.1:p.Glu176Asp, XP_016869314.1:p.Glu176Asp, NP_001311319.1:p.Glu176Asp, NP_001311321.1:p.Glu176Asp, XP_047278176.1:p.Glu176Asp, XP_047278175.1:p.Glu176Asp, NP_001311313.1:p.Glu176Asp, XP_047278177.1:p.Glu176Asp, XP_047278180.1:p.Glu176Asp, XP_047278183.1:p.Glu176Asp, XP_047278178.1:p.Glu176Asp, XP_047278184.1:p.Glu176Asp, XP_047278179.1:p.Glu176Asp, XP_047278174.1:p.Glu176Asp, XP_047278185.1:p.Glu176Asp, XP_047278182.1:p.Glu176Asp

                                        20.

                                        rs1414032873 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          8:29049015 (GRCh38)
                                          8:28906532 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:29049014:T:C
                                          Gene:
                                          HMBOX1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000008.11:g.29049015T>C, NC_000008.10:g.28906532T>C, NM_024567.4:c.1092T>C, NM_024567.3:c.1092T>C, XM_017013823.3:c.1092T>C, XM_017013823.2:c.1092T>C, XM_017013823.1:c.1092T>C, NM_001135726.3:c.1092T>C, NM_001135726.2:c.1092T>C, NM_001135726.1:c.1092T>C, NM_001324393.2:c.1086T>C, NM_001324393.1:c.1086T>C, NR_136758.2:n.1427T>C, NR_136758.1:n.1452T>C, NM_001324389.2:c.1092T>C, NM_001324389.1:c.1092T>C, NM_001324391.2:c.1089T>C, NM_001324391.1:c.1089T>C, NM_001324394.2:c.1086T>C, NM_001324394.1:c.1086T>C, NM_001324383.2:c.1092T>C, NM_001324383.1:c.1092T>C, NM_001330498.2:c.1089T>C, NM_001330498.1:c.1089T>C, NM_001324385.2:c.1086T>C, NM_001324385.1:c.1086T>C, NM_001324395.2:c.1089T>C, NM_001324395.1:c.1089T>C, NR_136757.2:n.1344T>C, NR_136757.1:n.1369T>C, NM_001324386.2:c.1089T>C, NM_001324386.1:c.1089T>C, NM_001324387.2:c.1086T>C, NM_001324387.1:c.1086T>C, NM_001324382.2:c.1092T>C, NM_001324382.1:c.1092T>C, NM_001324388.2:c.1086T>C, NM_001324388.1:c.1086T>C, NM_001324390.1:c.1092T>C, NM_001324392.1:c.1089T>C, XM_047422220.1:c.1089T>C, XM_047422219.1:c.1092T>C, NM_001324384.1:c.1092T>C, XM_047422221.1:c.1086T>C, XM_047422224.1:c.1092T>C, XM_047422227.1:c.1089T>C, XM_047422222.1:c.1092T>C, XM_047422228.1:c.1089T>C, XM_047422223.1:c.1092T>C, XM_047422218.1:c.1092T>C, XM_047422226.1:c.1089T>C

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