U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 303

1.

rs1489393812 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:101883906 (GRCh38)
    X:101138878 (GRCh37)
    Canonical SPDI:
    NC_000023.11:101883905:G:A
    Gene:
    ZMAT1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0./0 (ExAC)
    A=0.000004/1 (TOPMED)
    A=0.000005/1 (GnomAD_exomes)
    A=0.00001/1 (GnomAD)
    HGVS:
    NC_000023.11:g.101883906G>A, NC_000023.10:g.101138878G>A, NG_016330.2:g.52859C>T, NM_001011657.4:c.1521C>T, NM_001011657.3:c.1521C>T, NM_001282400.2:c.1008C>T, NM_001282400.1:c.1008C>T, NM_001282401.2:c.1008C>T, NM_001282401.1:c.1008C>T, NM_001394560.1:c.1692C>T, XM_005262212.5:c.1761C>T, XM_005262212.4:c.1761C>T, XM_005262212.3:c.1761C>T, XM_005262212.2:c.1761C>T, XM_005262212.1:c.1761C>T, XM_005262213.5:c.1758C>T, XM_005262213.4:c.1758C>T, XM_005262213.3:c.1758C>T, XM_005262213.2:c.1758C>T, XM_005262213.1:c.1758C>T, XM_005262216.5:c.1401C>T, XM_005262216.4:c.1401C>T, XM_005262216.3:c.1401C>T, XM_005262216.2:c.1401C>T, XM_005262216.1:c.1401C>T, XM_006724711.4:c.1008C>T, XM_006724711.3:c.1008C>T, XM_006724711.2:c.1008C>T, XM_006724711.1:c.1008C>T, XM_017029903.2:c.1398C>T, XM_017029903.1:c.1398C>T, XM_047442574.1:c.1008C>T, NR_036431.1:n.4506C>T, NM_032441.1:c.1008C>T, XM_047442575.1:c.1008C>T, XM_047442576.1:c.1008C>T, NR_046008.1:n.2427C>T, NM_001011656.1:c.*1502C>T, NR_046009.1:n.2374C>T

    2.

    rs1488638222 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      X:101884525 (GRCh38)
      X:101139497 (GRCh37)
      Canonical SPDI:
      NC_000023.11:101884524:T:A
      Gene:
      ZMAT1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.101884525T>A, NC_000023.10:g.101139497T>A, NG_016330.2:g.52240A>T, NM_001011657.4:c.902A>T, NM_001011657.3:c.902A>T, NM_001282400.2:c.389A>T, NM_001282400.1:c.389A>T, NM_001282401.2:c.389A>T, NM_001282401.1:c.389A>T, NM_001394560.1:c.1073A>T, XM_005262212.5:c.1142A>T, XM_005262212.4:c.1142A>T, XM_005262212.3:c.1142A>T, XM_005262212.2:c.1142A>T, XM_005262212.1:c.1142A>T, XM_005262213.5:c.1139A>T, XM_005262213.4:c.1139A>T, XM_005262213.3:c.1139A>T, XM_005262213.2:c.1139A>T, XM_005262213.1:c.1139A>T, XM_005262216.5:c.782A>T, XM_005262216.4:c.782A>T, XM_005262216.3:c.782A>T, XM_005262216.2:c.782A>T, XM_005262216.1:c.782A>T, XM_006724711.4:c.389A>T, XM_006724711.3:c.389A>T, XM_006724711.2:c.389A>T, XM_006724711.1:c.389A>T, XM_017029903.2:c.779A>T, XM_017029903.1:c.779A>T, XM_047442574.1:c.389A>T, NR_036431.1:n.3887A>T, NM_032441.1:c.389A>T, XM_047442575.1:c.389A>T, XM_047442576.1:c.389A>T, NR_046008.1:n.1808A>T, NM_001011656.1:c.*883A>T, NR_046009.1:n.1755A>T, NP_001011657.2:p.Tyr301Phe, NP_001269329.1:p.Tyr130Phe, NP_001269330.1:p.Tyr130Phe, NP_001381489.1:p.Tyr358Phe, XP_005262269.2:p.Tyr381Phe, XP_005262270.2:p.Tyr380Phe, XP_005262273.2:p.Tyr261Phe, XP_006724774.1:p.Tyr130Phe, XP_016885392.1:p.Tyr260Phe, XP_047298530.1:p.Tyr130Phe, XP_047298531.1:p.Tyr130Phe, XP_047298532.1:p.Tyr130Phe

      3.

      rs1482789732 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:101884221 (GRCh38)
        X:101139193 (GRCh37)
        Canonical SPDI:
        NC_000023.11:101884220:C:T
        Gene:
        ZMAT1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000918/15 (ALFA)
        T=0.00003/3 (GnomAD)
        HGVS:
        NC_000023.11:g.101884221C>T, NC_000023.10:g.101139193C>T, NG_016330.2:g.52544G>A, NM_001011657.4:c.1206G>A, NM_001011657.3:c.1206G>A, NM_001282400.2:c.693G>A, NM_001282400.1:c.693G>A, NM_001282401.2:c.693G>A, NM_001282401.1:c.693G>A, NM_001394560.1:c.1377G>A, XM_005262212.5:c.1446G>A, XM_005262212.4:c.1446G>A, XM_005262212.3:c.1446G>A, XM_005262212.2:c.1446G>A, XM_005262212.1:c.1446G>A, XM_005262213.5:c.1443G>A, XM_005262213.4:c.1443G>A, XM_005262213.3:c.1443G>A, XM_005262213.2:c.1443G>A, XM_005262213.1:c.1443G>A, XM_005262216.5:c.1086G>A, XM_005262216.4:c.1086G>A, XM_005262216.3:c.1086G>A, XM_005262216.2:c.1086G>A, XM_005262216.1:c.1086G>A, XM_006724711.4:c.693G>A, XM_006724711.3:c.693G>A, XM_006724711.2:c.693G>A, XM_006724711.1:c.693G>A, XM_017029903.2:c.1083G>A, XM_017029903.1:c.1083G>A, XM_047442574.1:c.693G>A, NR_036431.1:n.4191G>A, NM_032441.1:c.693G>A, XM_047442575.1:c.693G>A, XM_047442576.1:c.693G>A, NR_046008.1:n.2112G>A, NM_001011656.1:c.*1187G>A, NR_046009.1:n.2059G>A

        4.

        rs1481266586 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:101886665 (GRCh38)
          X:101141637 (GRCh37)
          Canonical SPDI:
          NC_000023.11:101886664:C:T
          Gene:
          ZMAT1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000017/3 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.101886665C>T, NC_000023.10:g.101141637C>T, NG_016330.2:g.50100G>A, NM_001011657.4:c.572G>A, NM_001011657.3:c.572G>A, NM_001282400.2:c.59G>A, NM_001282400.1:c.59G>A, NM_001282401.2:c.59G>A, NM_001282401.1:c.59G>A, NM_001394560.1:c.743G>A, XM_005262212.5:c.812G>A, XM_005262212.4:c.812G>A, XM_005262212.3:c.812G>A, XM_005262212.2:c.812G>A, XM_005262212.1:c.812G>A, XM_005262213.5:c.809G>A, XM_005262213.4:c.809G>A, XM_005262213.3:c.809G>A, XM_005262213.2:c.809G>A, XM_005262213.1:c.809G>A, XM_005262216.5:c.452G>A, XM_005262216.4:c.452G>A, XM_005262216.3:c.452G>A, XM_005262216.2:c.452G>A, XM_005262216.1:c.452G>A, XM_006724711.4:c.59G>A, XM_006724711.3:c.59G>A, XM_006724711.2:c.59G>A, XM_006724711.1:c.59G>A, XM_017029903.2:c.449G>A, XM_017029903.1:c.449G>A, XM_047442574.1:c.59G>A, NR_036431.1:n.3557G>A, NM_032441.1:c.59G>A, XM_047442575.1:c.59G>A, XM_047442576.1:c.59G>A, NR_046008.1:n.1478G>A, NM_001011656.1:c.*553G>A, NR_046009.1:n.1425G>A, NP_001011657.2:p.Arg191Gln, NP_001269329.1:p.Arg20Gln, NP_001269330.1:p.Arg20Gln, NP_001381489.1:p.Arg248Gln, XP_005262269.2:p.Arg271Gln, XP_005262270.2:p.Arg270Gln, XP_005262273.2:p.Arg151Gln, XP_006724774.1:p.Arg20Gln, XP_016885392.1:p.Arg150Gln, XP_047298530.1:p.Arg20Gln, XP_047298531.1:p.Arg20Gln, XP_047298532.1:p.Arg20Gln

          5.

          rs1478888674 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:101883732 (GRCh38)
            X:101138704 (GRCh37)
            Canonical SPDI:
            NC_000023.11:101883731:A:G
            Gene:
            ZMAT1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000006/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.101883732A>G, NC_000023.10:g.101138704A>G, NG_016330.2:g.53033T>C, NM_001011657.4:c.1695T>C, NM_001011657.3:c.1695T>C, NM_001282400.2:c.1182T>C, NM_001282400.1:c.1182T>C, NM_001282401.2:c.1182T>C, NM_001282401.1:c.1182T>C, NM_001394560.1:c.1866T>C, XM_005262212.5:c.1935T>C, XM_005262212.4:c.1935T>C, XM_005262212.3:c.1935T>C, XM_005262212.2:c.1935T>C, XM_005262212.1:c.1935T>C, XM_005262213.5:c.1932T>C, XM_005262213.4:c.1932T>C, XM_005262213.3:c.1932T>C, XM_005262213.2:c.1932T>C, XM_005262213.1:c.1932T>C, XM_005262216.5:c.1575T>C, XM_005262216.4:c.1575T>C, XM_005262216.3:c.1575T>C, XM_005262216.2:c.1575T>C, XM_005262216.1:c.1575T>C, XM_006724711.4:c.1182T>C, XM_006724711.3:c.1182T>C, XM_006724711.2:c.1182T>C, XM_006724711.1:c.1182T>C, XM_017029903.2:c.1572T>C, XM_017029903.1:c.1572T>C, XM_047442574.1:c.1182T>C, NR_036431.1:n.4680T>C, NM_032441.1:c.1182T>C, XM_047442575.1:c.1182T>C, XM_047442576.1:c.1182T>C, NR_046008.1:n.2601T>C, NM_001011656.1:c.*1676T>C, NR_046009.1:n.2548T>C

            6.

            rs1478001023 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              X:101883943 (GRCh38)
              X:101138915 (GRCh37)
              Canonical SPDI:
              NC_000023.11:101883942:T:G
              Gene:
              ZMAT1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              HGVS:
              NC_000023.11:g.101883943T>G, NC_000023.10:g.101138915T>G, NG_016330.2:g.52822A>C, NM_001011657.4:c.1484A>C, NM_001011657.3:c.1484A>C, NM_001282400.2:c.971A>C, NM_001282400.1:c.971A>C, NM_001282401.2:c.971A>C, NM_001282401.1:c.971A>C, NM_001394560.1:c.1655A>C, XM_005262212.5:c.1724A>C, XM_005262212.4:c.1724A>C, XM_005262212.3:c.1724A>C, XM_005262212.2:c.1724A>C, XM_005262212.1:c.1724A>C, XM_005262213.5:c.1721A>C, XM_005262213.4:c.1721A>C, XM_005262213.3:c.1721A>C, XM_005262213.2:c.1721A>C, XM_005262213.1:c.1721A>C, XM_005262216.5:c.1364A>C, XM_005262216.4:c.1364A>C, XM_005262216.3:c.1364A>C, XM_005262216.2:c.1364A>C, XM_005262216.1:c.1364A>C, XM_006724711.4:c.971A>C, XM_006724711.3:c.971A>C, XM_006724711.2:c.971A>C, XM_006724711.1:c.971A>C, XM_017029903.2:c.1361A>C, XM_017029903.1:c.1361A>C, XM_047442574.1:c.971A>C, NR_036431.1:n.4469A>C, NM_032441.1:c.971A>C, XM_047442575.1:c.971A>C, XM_047442576.1:c.971A>C, NR_046008.1:n.2390A>C, NM_001011656.1:c.*1465A>C, NR_046009.1:n.2337A>C, NP_001011657.2:p.Lys495Thr, NP_001269329.1:p.Lys324Thr, NP_001269330.1:p.Lys324Thr, NP_001381489.1:p.Lys552Thr, XP_005262269.2:p.Lys575Thr, XP_005262270.2:p.Lys574Thr, XP_005262273.2:p.Lys455Thr, XP_006724774.1:p.Lys324Thr, XP_016885392.1:p.Lys454Thr, XP_047298530.1:p.Lys324Thr, XP_047298531.1:p.Lys324Thr, XP_047298532.1:p.Lys324Thr

              7.

              rs1477915810 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:101884813 (GRCh38)
                X:101139785 (GRCh37)
                Canonical SPDI:
                NC_000023.11:101884812:A:G
                Gene:
                ZMAT1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                HGVS:
                NC_000023.11:g.101884813A>G, NC_000023.10:g.101139785A>G, NG_016330.2:g.51952T>C, NM_001011657.4:c.614T>C, NM_001011657.3:c.614T>C, NM_001282400.2:c.101T>C, NM_001282400.1:c.101T>C, NM_001282401.2:c.101T>C, NM_001282401.1:c.101T>C, NM_001394560.1:c.785T>C, XM_005262212.5:c.854T>C, XM_005262212.4:c.854T>C, XM_005262212.3:c.854T>C, XM_005262212.2:c.854T>C, XM_005262212.1:c.854T>C, XM_005262213.5:c.851T>C, XM_005262213.4:c.851T>C, XM_005262213.3:c.851T>C, XM_005262213.2:c.851T>C, XM_005262213.1:c.851T>C, XM_005262216.5:c.494T>C, XM_005262216.4:c.494T>C, XM_005262216.3:c.494T>C, XM_005262216.2:c.494T>C, XM_005262216.1:c.494T>C, XM_006724711.4:c.101T>C, XM_006724711.3:c.101T>C, XM_006724711.2:c.101T>C, XM_006724711.1:c.101T>C, XM_017029903.2:c.491T>C, XM_017029903.1:c.491T>C, XM_047442574.1:c.101T>C, NR_036431.1:n.3599T>C, NM_032441.1:c.101T>C, XM_047442575.1:c.101T>C, XM_047442576.1:c.101T>C, NR_046008.1:n.1520T>C, NM_001011656.1:c.*595T>C, NR_046009.1:n.1467T>C, NP_001011657.2:p.Ile205Thr, NP_001269329.1:p.Ile34Thr, NP_001269330.1:p.Ile34Thr, NP_001381489.1:p.Ile262Thr, XP_005262269.2:p.Ile285Thr, XP_005262270.2:p.Ile284Thr, XP_005262273.2:p.Ile165Thr, XP_006724774.1:p.Ile34Thr, XP_016885392.1:p.Ile164Thr, XP_047298530.1:p.Ile34Thr, XP_047298531.1:p.Ile34Thr, XP_047298532.1:p.Ile34Thr

                8.

                rs1477857437 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  X:101883620 (GRCh38)
                  X:101138592 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:101883619:C:A,NC_000023.11:101883619:C:T
                  Gene:
                  ZMAT1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000005/1 (GnomAD_exomes)
                  T=0.00001/1 (GnomAD)
                  HGVS:
                  NC_000023.11:g.101883620C>A, NC_000023.11:g.101883620C>T, NC_000023.10:g.101138592C>A, NC_000023.10:g.101138592C>T, NG_016330.2:g.53145G>T, NG_016330.2:g.53145G>A, NM_001011657.4:c.1807G>T, NM_001011657.4:c.1807G>A, NM_001011657.3:c.1807G>T, NM_001011657.3:c.1807G>A, NM_001282400.2:c.1294G>T, NM_001282400.2:c.1294G>A, NM_001282400.1:c.1294G>T, NM_001282400.1:c.1294G>A, NM_001282401.2:c.1294G>T, NM_001282401.2:c.1294G>A, NM_001282401.1:c.1294G>T, NM_001282401.1:c.1294G>A, NM_001394560.1:c.1978G>T, NM_001394560.1:c.1978G>A, XM_005262212.5:c.2047G>T, XM_005262212.5:c.2047G>A, XM_005262212.4:c.2047G>T, XM_005262212.4:c.2047G>A, XM_005262212.3:c.2047G>T, XM_005262212.3:c.2047G>A, XM_005262212.2:c.2047G>T, XM_005262212.2:c.2047G>A, XM_005262212.1:c.2047G>T, XM_005262212.1:c.2047G>A, XM_005262213.5:c.2044G>T, XM_005262213.5:c.2044G>A, XM_005262213.4:c.2044G>T, XM_005262213.4:c.2044G>A, XM_005262213.3:c.2044G>T, XM_005262213.3:c.2044G>A, XM_005262213.2:c.2044G>T, XM_005262213.2:c.2044G>A, XM_005262213.1:c.2044G>T, XM_005262213.1:c.2044G>A, XM_005262216.5:c.1687G>T, XM_005262216.5:c.1687G>A, XM_005262216.4:c.1687G>T, XM_005262216.4:c.1687G>A, XM_005262216.3:c.1687G>T, XM_005262216.3:c.1687G>A, XM_005262216.2:c.1687G>T, XM_005262216.2:c.1687G>A, XM_005262216.1:c.1687G>T, XM_005262216.1:c.1687G>A, XM_006724711.4:c.1294G>T, XM_006724711.4:c.1294G>A, XM_006724711.3:c.1294G>T, XM_006724711.3:c.1294G>A, XM_006724711.2:c.1294G>T, XM_006724711.2:c.1294G>A, XM_006724711.1:c.1294G>T, XM_006724711.1:c.1294G>A, XM_017029903.2:c.1684G>T, XM_017029903.2:c.1684G>A, XM_017029903.1:c.1684G>T, XM_017029903.1:c.1684G>A, XM_047442574.1:c.1294G>T, XM_047442574.1:c.1294G>A, NR_036431.1:n.4792G>T, NR_036431.1:n.4792G>A, NM_032441.1:c.1294G>T, NM_032441.1:c.1294G>A, XM_047442575.1:c.1294G>T, XM_047442575.1:c.1294G>A, XM_047442576.1:c.1294G>T, XM_047442576.1:c.1294G>A, NR_046008.1:n.2713G>T, NR_046008.1:n.2713G>A, NM_001011656.1:c.*1788G>T, NM_001011656.1:c.*1788G>A, NR_046009.1:n.2660G>T, NR_046009.1:n.2660G>A, NP_001011657.2:p.Asp603Tyr, NP_001011657.2:p.Asp603Asn, NP_001269329.1:p.Asp432Tyr, NP_001269329.1:p.Asp432Asn, NP_001269330.1:p.Asp432Tyr, NP_001269330.1:p.Asp432Asn, NP_001381489.1:p.Asp660Tyr, NP_001381489.1:p.Asp660Asn, XP_005262269.2:p.Asp683Tyr, XP_005262269.2:p.Asp683Asn, XP_005262270.2:p.Asp682Tyr, XP_005262270.2:p.Asp682Asn, XP_005262273.2:p.Asp563Tyr, XP_005262273.2:p.Asp563Asn, XP_006724774.1:p.Asp432Tyr, XP_006724774.1:p.Asp432Asn, XP_016885392.1:p.Asp562Tyr, XP_016885392.1:p.Asp562Asn, XP_047298530.1:p.Asp432Tyr, XP_047298530.1:p.Asp432Asn, XP_047298531.1:p.Asp432Tyr, XP_047298531.1:p.Asp432Asn, XP_047298532.1:p.Asp432Tyr, XP_047298532.1:p.Asp432Asn

                  9.

                  rs1472123513 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:101884643 (GRCh38)
                    X:101139615 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:101884642:T:C
                    Gene:
                    ZMAT1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000023.11:g.101884643T>C, NC_000023.10:g.101139615T>C, NG_016330.2:g.52122A>G, NM_001011657.4:c.784A>G, NM_001011657.3:c.784A>G, NM_001282400.2:c.271A>G, NM_001282400.1:c.271A>G, NM_001282401.2:c.271A>G, NM_001282401.1:c.271A>G, NM_001394560.1:c.955A>G, XM_005262212.5:c.1024A>G, XM_005262212.4:c.1024A>G, XM_005262212.3:c.1024A>G, XM_005262212.2:c.1024A>G, XM_005262212.1:c.1024A>G, XM_005262213.5:c.1021A>G, XM_005262213.4:c.1021A>G, XM_005262213.3:c.1021A>G, XM_005262213.2:c.1021A>G, XM_005262213.1:c.1021A>G, XM_005262216.5:c.664A>G, XM_005262216.4:c.664A>G, XM_005262216.3:c.664A>G, XM_005262216.2:c.664A>G, XM_005262216.1:c.664A>G, XM_006724711.4:c.271A>G, XM_006724711.3:c.271A>G, XM_006724711.2:c.271A>G, XM_006724711.1:c.271A>G, XM_017029903.2:c.661A>G, XM_017029903.1:c.661A>G, XM_047442574.1:c.271A>G, NR_036431.1:n.3769A>G, NM_032441.1:c.271A>G, XM_047442575.1:c.271A>G, XM_047442576.1:c.271A>G, NR_046008.1:n.1690A>G, NM_001011656.1:c.*765A>G, NR_046009.1:n.1637A>G, NP_001011657.2:p.Arg262Gly, NP_001269329.1:p.Arg91Gly, NP_001269330.1:p.Arg91Gly, NP_001381489.1:p.Arg319Gly, XP_005262269.2:p.Arg342Gly, XP_005262270.2:p.Arg341Gly, XP_005262273.2:p.Arg222Gly, XP_006724774.1:p.Arg91Gly, XP_016885392.1:p.Arg221Gly, XP_047298530.1:p.Arg91Gly, XP_047298531.1:p.Arg91Gly, XP_047298532.1:p.Arg91Gly

                    10.

                    rs1466118982 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      X:101883773 (GRCh38)
                      X:101138745 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:101883772:G:C
                      Gene:
                      ZMAT1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000023.11:g.101883773G>C, NC_000023.10:g.101138745G>C, NG_016330.2:g.52992C>G, NM_001011657.4:c.1654C>G, NM_001011657.3:c.1654C>G, NM_001282400.2:c.1141C>G, NM_001282400.1:c.1141C>G, NM_001282401.2:c.1141C>G, NM_001282401.1:c.1141C>G, NM_001394560.1:c.1825C>G, XM_005262212.5:c.1894C>G, XM_005262212.4:c.1894C>G, XM_005262212.3:c.1894C>G, XM_005262212.2:c.1894C>G, XM_005262212.1:c.1894C>G, XM_005262213.5:c.1891C>G, XM_005262213.4:c.1891C>G, XM_005262213.3:c.1891C>G, XM_005262213.2:c.1891C>G, XM_005262213.1:c.1891C>G, XM_005262216.5:c.1534C>G, XM_005262216.4:c.1534C>G, XM_005262216.3:c.1534C>G, XM_005262216.2:c.1534C>G, XM_005262216.1:c.1534C>G, XM_006724711.4:c.1141C>G, XM_006724711.3:c.1141C>G, XM_006724711.2:c.1141C>G, XM_006724711.1:c.1141C>G, XM_017029903.2:c.1531C>G, XM_017029903.1:c.1531C>G, XM_047442574.1:c.1141C>G, NR_036431.1:n.4639C>G, NM_032441.1:c.1141C>G, XM_047442575.1:c.1141C>G, XM_047442576.1:c.1141C>G, NR_046008.1:n.2560C>G, NM_001011656.1:c.*1635C>G, NR_046009.1:n.2507C>G, NP_001011657.2:p.Pro552Ala, NP_001269329.1:p.Pro381Ala, NP_001269330.1:p.Pro381Ala, NP_001381489.1:p.Pro609Ala, XP_005262269.2:p.Pro632Ala, XP_005262270.2:p.Pro631Ala, XP_005262273.2:p.Pro512Ala, XP_006724774.1:p.Pro381Ala, XP_016885392.1:p.Pro511Ala, XP_047298530.1:p.Pro381Ala, XP_047298531.1:p.Pro381Ala, XP_047298532.1:p.Pro381Ala

                      11.

                      rs1465610166 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        X:101884397 (GRCh38)
                        X:101139369 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:101884396:C:A
                        Gene:
                        ZMAT1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000005/1 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        A=0.00001/1 (GnomAD)
                        HGVS:
                        NC_000023.11:g.101884397C>A, NC_000023.10:g.101139369C>A, NG_016330.2:g.52368G>T, NM_001011657.4:c.1030G>T, NM_001011657.3:c.1030G>T, NM_001282400.2:c.517G>T, NM_001282400.1:c.517G>T, NM_001282401.2:c.517G>T, NM_001282401.1:c.517G>T, NM_001394560.1:c.1201G>T, XM_005262212.5:c.1270G>T, XM_005262212.4:c.1270G>T, XM_005262212.3:c.1270G>T, XM_005262212.2:c.1270G>T, XM_005262212.1:c.1270G>T, XM_005262213.5:c.1267G>T, XM_005262213.4:c.1267G>T, XM_005262213.3:c.1267G>T, XM_005262213.2:c.1267G>T, XM_005262213.1:c.1267G>T, XM_005262216.5:c.910G>T, XM_005262216.4:c.910G>T, XM_005262216.3:c.910G>T, XM_005262216.2:c.910G>T, XM_005262216.1:c.910G>T, XM_006724711.4:c.517G>T, XM_006724711.3:c.517G>T, XM_006724711.2:c.517G>T, XM_006724711.1:c.517G>T, XM_017029903.2:c.907G>T, XM_017029903.1:c.907G>T, XM_047442574.1:c.517G>T, NR_036431.1:n.4015G>T, NM_032441.1:c.517G>T, XM_047442575.1:c.517G>T, XM_047442576.1:c.517G>T, NR_046008.1:n.1936G>T, NM_001011656.1:c.*1011G>T, NR_046009.1:n.1883G>T, NP_001011657.2:p.Asp344Tyr, NP_001269329.1:p.Asp173Tyr, NP_001269330.1:p.Asp173Tyr, NP_001381489.1:p.Asp401Tyr, XP_005262269.2:p.Asp424Tyr, XP_005262270.2:p.Asp423Tyr, XP_005262273.2:p.Asp304Tyr, XP_006724774.1:p.Asp173Tyr, XP_016885392.1:p.Asp303Tyr, XP_047298530.1:p.Asp173Tyr, XP_047298531.1:p.Asp173Tyr, XP_047298532.1:p.Asp173Tyr

                        12.

                        rs1462711276 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:101884705 (GRCh38)
                          X:101139677 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:101884704:C:T
                          Gene:
                          ZMAT1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000023.11:g.101884705C>T, NC_000023.10:g.101139677C>T, NG_016330.2:g.52060G>A, NM_001011657.4:c.722G>A, NM_001011657.3:c.722G>A, NM_001282400.2:c.209G>A, NM_001282400.1:c.209G>A, NM_001282401.2:c.209G>A, NM_001282401.1:c.209G>A, NM_001394560.1:c.893G>A, XM_005262212.5:c.962G>A, XM_005262212.4:c.962G>A, XM_005262212.3:c.962G>A, XM_005262212.2:c.962G>A, XM_005262212.1:c.962G>A, XM_005262213.5:c.959G>A, XM_005262213.4:c.959G>A, XM_005262213.3:c.959G>A, XM_005262213.2:c.959G>A, XM_005262213.1:c.959G>A, XM_005262216.5:c.602G>A, XM_005262216.4:c.602G>A, XM_005262216.3:c.602G>A, XM_005262216.2:c.602G>A, XM_005262216.1:c.602G>A, XM_006724711.4:c.209G>A, XM_006724711.3:c.209G>A, XM_006724711.2:c.209G>A, XM_006724711.1:c.209G>A, XM_017029903.2:c.599G>A, XM_017029903.1:c.599G>A, XM_047442574.1:c.209G>A, NR_036431.1:n.3707G>A, NM_032441.1:c.209G>A, XM_047442575.1:c.209G>A, XM_047442576.1:c.209G>A, NR_046008.1:n.1628G>A, NM_001011656.1:c.*703G>A, NR_046009.1:n.1575G>A, NP_001011657.2:p.Cys241Tyr, NP_001269329.1:p.Cys70Tyr, NP_001269330.1:p.Cys70Tyr, NP_001381489.1:p.Cys298Tyr, XP_005262269.2:p.Cys321Tyr, XP_005262270.2:p.Cys320Tyr, XP_005262273.2:p.Cys201Tyr, XP_006724774.1:p.Cys70Tyr, XP_016885392.1:p.Cys200Tyr, XP_047298530.1:p.Cys70Tyr, XP_047298531.1:p.Cys70Tyr, XP_047298532.1:p.Cys70Tyr

                          13.

                          rs1462426896 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            X:101886676 (GRCh38)
                            X:101141648 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:101886675:T:C
                            Gene:
                            ZMAT1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.101886676T>C, NC_000023.10:g.101141648T>C, NG_016330.2:g.50089A>G, NM_001011657.4:c.561A>G, NM_001011657.3:c.561A>G, NM_001282400.2:c.48A>G, NM_001282400.1:c.48A>G, NM_001282401.2:c.48A>G, NM_001282401.1:c.48A>G, NM_001394560.1:c.732A>G, XM_005262212.5:c.801A>G, XM_005262212.4:c.801A>G, XM_005262212.3:c.801A>G, XM_005262212.2:c.801A>G, XM_005262212.1:c.801A>G, XM_005262213.5:c.798A>G, XM_005262213.4:c.798A>G, XM_005262213.3:c.798A>G, XM_005262213.2:c.798A>G, XM_005262213.1:c.798A>G, XM_005262216.5:c.441A>G, XM_005262216.4:c.441A>G, XM_005262216.3:c.441A>G, XM_005262216.2:c.441A>G, XM_005262216.1:c.441A>G, XM_006724711.4:c.48A>G, XM_006724711.3:c.48A>G, XM_006724711.2:c.48A>G, XM_006724711.1:c.48A>G, XM_017029903.2:c.438A>G, XM_017029903.1:c.438A>G, XM_047442574.1:c.48A>G, NR_036431.1:n.3546A>G, NM_032441.1:c.48A>G, XM_047442575.1:c.48A>G, XM_047442576.1:c.48A>G, NR_046008.1:n.1467A>G, NM_001011656.1:c.*542A>G, NR_046009.1:n.1414A>G

                            14.

                            rs1456976336 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:101883976 (GRCh38)
                              X:101138948 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:101883975:T:C
                              Gene:
                              ZMAT1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000011/2 (GnomAD_exomes)
                              HGVS:
                              NC_000023.11:g.101883976T>C, NC_000023.10:g.101138948T>C, NG_016330.2:g.52789A>G, NM_001011657.4:c.1451A>G, NM_001011657.3:c.1451A>G, NM_001282400.2:c.938A>G, NM_001282400.1:c.938A>G, NM_001282401.2:c.938A>G, NM_001282401.1:c.938A>G, NM_001394560.1:c.1622A>G, XM_005262212.5:c.1691A>G, XM_005262212.4:c.1691A>G, XM_005262212.3:c.1691A>G, XM_005262212.2:c.1691A>G, XM_005262212.1:c.1691A>G, XM_005262213.5:c.1688A>G, XM_005262213.4:c.1688A>G, XM_005262213.3:c.1688A>G, XM_005262213.2:c.1688A>G, XM_005262213.1:c.1688A>G, XM_005262216.5:c.1331A>G, XM_005262216.4:c.1331A>G, XM_005262216.3:c.1331A>G, XM_005262216.2:c.1331A>G, XM_005262216.1:c.1331A>G, XM_006724711.4:c.938A>G, XM_006724711.3:c.938A>G, XM_006724711.2:c.938A>G, XM_006724711.1:c.938A>G, XM_017029903.2:c.1328A>G, XM_017029903.1:c.1328A>G, XM_047442574.1:c.938A>G, NR_036431.1:n.4436A>G, NM_032441.1:c.938A>G, XM_047442575.1:c.938A>G, XM_047442576.1:c.938A>G, NR_046008.1:n.2357A>G, NM_001011656.1:c.*1432A>G, NR_046009.1:n.2304A>G, NP_001011657.2:p.Tyr484Cys, NP_001269329.1:p.Tyr313Cys, NP_001269330.1:p.Tyr313Cys, NP_001381489.1:p.Tyr541Cys, XP_005262269.2:p.Tyr564Cys, XP_005262270.2:p.Tyr563Cys, XP_005262273.2:p.Tyr444Cys, XP_006724774.1:p.Tyr313Cys, XP_016885392.1:p.Tyr443Cys, XP_047298530.1:p.Tyr313Cys, XP_047298531.1:p.Tyr313Cys, XP_047298532.1:p.Tyr313Cys

                              15.

                              rs1456298676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:101883637 (GRCh38)
                                X:101138609 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:101883636:T:C
                                Gene:
                                ZMAT1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.00001/1 (GnomAD)
                                HGVS:
                                NC_000023.11:g.101883637T>C, NC_000023.10:g.101138609T>C, NG_016330.2:g.53128A>G, NM_001011657.4:c.1790A>G, NM_001011657.3:c.1790A>G, NM_001282400.2:c.1277A>G, NM_001282400.1:c.1277A>G, NM_001282401.2:c.1277A>G, NM_001282401.1:c.1277A>G, NM_001394560.1:c.1961A>G, XM_005262212.5:c.2030A>G, XM_005262212.4:c.2030A>G, XM_005262212.3:c.2030A>G, XM_005262212.2:c.2030A>G, XM_005262212.1:c.2030A>G, XM_005262213.5:c.2027A>G, XM_005262213.4:c.2027A>G, XM_005262213.3:c.2027A>G, XM_005262213.2:c.2027A>G, XM_005262213.1:c.2027A>G, XM_005262216.5:c.1670A>G, XM_005262216.4:c.1670A>G, XM_005262216.3:c.1670A>G, XM_005262216.2:c.1670A>G, XM_005262216.1:c.1670A>G, XM_006724711.4:c.1277A>G, XM_006724711.3:c.1277A>G, XM_006724711.2:c.1277A>G, XM_006724711.1:c.1277A>G, XM_017029903.2:c.1667A>G, XM_017029903.1:c.1667A>G, XM_047442574.1:c.1277A>G, NR_036431.1:n.4775A>G, NM_032441.1:c.1277A>G, XM_047442575.1:c.1277A>G, XM_047442576.1:c.1277A>G, NR_046008.1:n.2696A>G, NM_001011656.1:c.*1771A>G, NR_046009.1:n.2643A>G, NP_001011657.2:p.Lys597Arg, NP_001269329.1:p.Lys426Arg, NP_001269330.1:p.Lys426Arg, NP_001381489.1:p.Lys654Arg, XP_005262269.2:p.Lys677Arg, XP_005262270.2:p.Lys676Arg, XP_005262273.2:p.Lys557Arg, XP_006724774.1:p.Lys426Arg, XP_016885392.1:p.Lys556Arg, XP_047298530.1:p.Lys426Arg, XP_047298531.1:p.Lys426Arg, XP_047298532.1:p.Lys426Arg

                                16.

                                rs1451309361 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:101886657 (GRCh38)
                                  X:101141629 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:101886656:T:C
                                  Gene:
                                  ZMAT1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000023.11:g.101886657T>C, NC_000023.10:g.101141629T>C, NG_016330.2:g.50108A>G, NM_001011657.4:c.580A>G, NM_001011657.3:c.580A>G, NM_001282400.2:c.67A>G, NM_001282400.1:c.67A>G, NM_001282401.2:c.67A>G, NM_001282401.1:c.67A>G, NM_001394560.1:c.751A>G, XM_005262212.5:c.820A>G, XM_005262212.4:c.820A>G, XM_005262212.3:c.820A>G, XM_005262212.2:c.820A>G, XM_005262212.1:c.820A>G, XM_005262213.5:c.817A>G, XM_005262213.4:c.817A>G, XM_005262213.3:c.817A>G, XM_005262213.2:c.817A>G, XM_005262213.1:c.817A>G, XM_005262216.5:c.460A>G, XM_005262216.4:c.460A>G, XM_005262216.3:c.460A>G, XM_005262216.2:c.460A>G, XM_005262216.1:c.460A>G, XM_006724711.4:c.67A>G, XM_006724711.3:c.67A>G, XM_006724711.2:c.67A>G, XM_006724711.1:c.67A>G, XM_017029903.2:c.457A>G, XM_017029903.1:c.457A>G, XM_047442574.1:c.67A>G, NR_036431.1:n.3565A>G, NM_032441.1:c.67A>G, XM_047442575.1:c.67A>G, XM_047442576.1:c.67A>G, NR_046008.1:n.1486A>G, NM_001011656.1:c.*561A>G, NR_046009.1:n.1433A>G, NP_001011657.2:p.Met194Val, NP_001269329.1:p.Met23Val, NP_001269330.1:p.Met23Val, NP_001381489.1:p.Met251Val, XP_005262269.2:p.Met274Val, XP_005262270.2:p.Met273Val, XP_005262273.2:p.Met154Val, XP_006724774.1:p.Met23Val, XP_016885392.1:p.Met153Val, XP_047298530.1:p.Met23Val, XP_047298531.1:p.Met23Val, XP_047298532.1:p.Met23Val

                                  17.

                                  rs1449568308 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    X:101884591 (GRCh38)
                                    X:101139563 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:101884590:G:A
                                    Gene:
                                    ZMAT1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.00001/1 (GnomAD)
                                    HGVS:
                                    NC_000023.11:g.101884591G>A, NC_000023.10:g.101139563G>A, NG_016330.2:g.52174C>T, NM_001011657.4:c.836C>T, NM_001011657.3:c.836C>T, NM_001282400.2:c.323C>T, NM_001282400.1:c.323C>T, NM_001282401.2:c.323C>T, NM_001282401.1:c.323C>T, NM_001394560.1:c.1007C>T, XM_005262212.5:c.1076C>T, XM_005262212.4:c.1076C>T, XM_005262212.3:c.1076C>T, XM_005262212.2:c.1076C>T, XM_005262212.1:c.1076C>T, XM_005262213.5:c.1073C>T, XM_005262213.4:c.1073C>T, XM_005262213.3:c.1073C>T, XM_005262213.2:c.1073C>T, XM_005262213.1:c.1073C>T, XM_005262216.5:c.716C>T, XM_005262216.4:c.716C>T, XM_005262216.3:c.716C>T, XM_005262216.2:c.716C>T, XM_005262216.1:c.716C>T, XM_006724711.4:c.323C>T, XM_006724711.3:c.323C>T, XM_006724711.2:c.323C>T, XM_006724711.1:c.323C>T, XM_017029903.2:c.713C>T, XM_017029903.1:c.713C>T, XM_047442574.1:c.323C>T, NR_036431.1:n.3821C>T, NM_032441.1:c.323C>T, XM_047442575.1:c.323C>T, XM_047442576.1:c.323C>T, NR_046008.1:n.1742C>T, NM_001011656.1:c.*817C>T, NR_046009.1:n.1689C>T, NP_001011657.2:p.Thr279Ile, NP_001269329.1:p.Thr108Ile, NP_001269330.1:p.Thr108Ile, NP_001381489.1:p.Thr336Ile, XP_005262269.2:p.Thr359Ile, XP_005262270.2:p.Thr358Ile, XP_005262273.2:p.Thr239Ile, XP_006724774.1:p.Thr108Ile, XP_016885392.1:p.Thr238Ile, XP_047298530.1:p.Thr108Ile, XP_047298531.1:p.Thr108Ile, XP_047298532.1:p.Thr108Ile

                                    18.

                                    rs1447418586 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      X:101883641 (GRCh38)
                                      X:101138613 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:101883640:G:T
                                      Gene:
                                      ZMAT1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.0009/4 (ALFA)
                                      HGVS:
                                      NC_000023.11:g.101883641G>T, NC_000023.10:g.101138613G>T, NG_016330.2:g.53124C>A, NM_001011657.4:c.1786C>A, NM_001011657.3:c.1786C>A, NM_001282400.2:c.1273C>A, NM_001282400.1:c.1273C>A, NM_001282401.2:c.1273C>A, NM_001282401.1:c.1273C>A, NM_001394560.1:c.1957C>A, XM_005262212.5:c.2026C>A, XM_005262212.4:c.2026C>A, XM_005262212.3:c.2026C>A, XM_005262212.2:c.2026C>A, XM_005262212.1:c.2026C>A, XM_005262213.5:c.2023C>A, XM_005262213.4:c.2023C>A, XM_005262213.3:c.2023C>A, XM_005262213.2:c.2023C>A, XM_005262213.1:c.2023C>A, XM_005262216.5:c.1666C>A, XM_005262216.4:c.1666C>A, XM_005262216.3:c.1666C>A, XM_005262216.2:c.1666C>A, XM_005262216.1:c.1666C>A, XM_006724711.4:c.1273C>A, XM_006724711.3:c.1273C>A, XM_006724711.2:c.1273C>A, XM_006724711.1:c.1273C>A, XM_017029903.2:c.1663C>A, XM_017029903.1:c.1663C>A, XM_047442574.1:c.1273C>A, NR_036431.1:n.4771C>A, NM_032441.1:c.1273C>A, XM_047442575.1:c.1273C>A, XM_047442576.1:c.1273C>A, NR_046008.1:n.2692C>A, NM_001011656.1:c.*1767C>A, NR_046009.1:n.2639C>A

                                      19.

                                      rs1445788859 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        X:101884668 (GRCh38)
                                        X:101139640 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:101884667:A:G
                                        Gene:
                                        ZMAT1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        HGVS:
                                        NC_000023.11:g.101884668A>G, NC_000023.10:g.101139640A>G, NG_016330.2:g.52097T>C, NM_001011657.4:c.759T>C, NM_001011657.3:c.759T>C, NM_001282400.2:c.246T>C, NM_001282400.1:c.246T>C, NM_001282401.2:c.246T>C, NM_001282401.1:c.246T>C, NM_001394560.1:c.930T>C, XM_005262212.5:c.999T>C, XM_005262212.4:c.999T>C, XM_005262212.3:c.999T>C, XM_005262212.2:c.999T>C, XM_005262212.1:c.999T>C, XM_005262213.5:c.996T>C, XM_005262213.4:c.996T>C, XM_005262213.3:c.996T>C, XM_005262213.2:c.996T>C, XM_005262213.1:c.996T>C, XM_005262216.5:c.639T>C, XM_005262216.4:c.639T>C, XM_005262216.3:c.639T>C, XM_005262216.2:c.639T>C, XM_005262216.1:c.639T>C, XM_006724711.4:c.246T>C, XM_006724711.3:c.246T>C, XM_006724711.2:c.246T>C, XM_006724711.1:c.246T>C, XM_017029903.2:c.636T>C, XM_017029903.1:c.636T>C, XM_047442574.1:c.246T>C, NR_036431.1:n.3744T>C, NM_032441.1:c.246T>C, XM_047442575.1:c.246T>C, XM_047442576.1:c.246T>C, NR_046008.1:n.1665T>C, NM_001011656.1:c.*740T>C, NR_046009.1:n.1612T>C

                                        20.

                                        rs1444453069 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          X:101883596 (GRCh38)
                                          X:101138568 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:101883595:G:A,NC_000023.11:101883595:G:C
                                          Gene:
                                          ZMAT1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          C=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.101883596G>A, NC_000023.11:g.101883596G>C, NC_000023.10:g.101138568G>A, NC_000023.10:g.101138568G>C, NG_016330.2:g.53169C>T, NG_016330.2:g.53169C>G, NM_001011657.4:c.1831C>T, NM_001011657.4:c.1831C>G, NM_001011657.3:c.1831C>T, NM_001011657.3:c.1831C>G, NM_001282400.2:c.1318C>T, NM_001282400.2:c.1318C>G, NM_001282400.1:c.1318C>T, NM_001282400.1:c.1318C>G, NM_001282401.2:c.1318C>T, NM_001282401.2:c.1318C>G, NM_001282401.1:c.1318C>T, NM_001282401.1:c.1318C>G, NM_001394560.1:c.2002C>T, NM_001394560.1:c.2002C>G, XM_005262212.5:c.2071C>T, XM_005262212.5:c.2071C>G, XM_005262212.4:c.2071C>T, XM_005262212.4:c.2071C>G, XM_005262212.3:c.2071C>T, XM_005262212.3:c.2071C>G, XM_005262212.2:c.2071C>T, XM_005262212.2:c.2071C>G, XM_005262212.1:c.2071C>T, XM_005262212.1:c.2071C>G, XM_005262213.5:c.2068C>T, XM_005262213.5:c.2068C>G, XM_005262213.4:c.2068C>T, XM_005262213.4:c.2068C>G, XM_005262213.3:c.2068C>T, XM_005262213.3:c.2068C>G, XM_005262213.2:c.2068C>T, XM_005262213.2:c.2068C>G, XM_005262213.1:c.2068C>T, XM_005262213.1:c.2068C>G, XM_005262216.5:c.1711C>T, XM_005262216.5:c.1711C>G, XM_005262216.4:c.1711C>T, XM_005262216.4:c.1711C>G, XM_005262216.3:c.1711C>T, XM_005262216.3:c.1711C>G, XM_005262216.2:c.1711C>T, XM_005262216.2:c.1711C>G, XM_005262216.1:c.1711C>T, XM_005262216.1:c.1711C>G, XM_006724711.4:c.1318C>T, XM_006724711.4:c.1318C>G, XM_006724711.3:c.1318C>T, XM_006724711.3:c.1318C>G, XM_006724711.2:c.1318C>T, XM_006724711.2:c.1318C>G, XM_006724711.1:c.1318C>T, XM_006724711.1:c.1318C>G, XM_017029903.2:c.1708C>T, XM_017029903.2:c.1708C>G, XM_017029903.1:c.1708C>T, XM_017029903.1:c.1708C>G, XM_047442574.1:c.1318C>T, XM_047442574.1:c.1318C>G, NR_036431.1:n.4816C>T, NR_036431.1:n.4816C>G, NM_032441.1:c.1318C>T, NM_032441.1:c.1318C>G, XM_047442575.1:c.1318C>T, XM_047442575.1:c.1318C>G, XM_047442576.1:c.1318C>T, XM_047442576.1:c.1318C>G, NR_046008.1:n.2737C>T, NR_046008.1:n.2737C>G, NM_001011656.1:c.*1812C>T, NM_001011656.1:c.*1812C>G, NR_046009.1:n.2684C>T, NR_046009.1:n.2684C>G, NP_001011657.2:p.Arg611Cys, NP_001011657.2:p.Arg611Gly, NP_001269329.1:p.Arg440Cys, NP_001269329.1:p.Arg440Gly, NP_001269330.1:p.Arg440Cys, NP_001269330.1:p.Arg440Gly, NP_001381489.1:p.Arg668Cys, NP_001381489.1:p.Arg668Gly, XP_005262269.2:p.Arg691Cys, XP_005262269.2:p.Arg691Gly, XP_005262270.2:p.Arg690Cys, XP_005262270.2:p.Arg690Gly, XP_005262273.2:p.Arg571Cys, XP_005262273.2:p.Arg571Gly, XP_006724774.1:p.Arg440Cys, XP_006724774.1:p.Arg440Gly, XP_016885392.1:p.Arg570Cys, XP_016885392.1:p.Arg570Gly, XP_047298530.1:p.Arg440Cys, XP_047298530.1:p.Arg440Gly, XP_047298531.1:p.Arg440Cys, XP_047298531.1:p.Arg440Gly, XP_047298532.1:p.Arg440Cys, XP_047298532.1:p.Arg440Gly

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...