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Items: 1 to 20 of 536

1.

rs1489287557 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:210674347 (GRCh38)
    1:210847689 (GRCh37)
    Canonical SPDI:
    NC_000001.11:210674346:A:G
    Gene:
    HHAT (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.210674347A>G, NC_000001.10:g.210847689A>G, NW_011332687.1:g.457446A>G, NM_018194.6:c.1450A>G, NM_018194.5:c.1450A>G, NM_018194.4:c.1450A>G, XM_006711441.4:c.1552A>G, XM_006711441.3:c.1552A>G, XM_006711441.2:c.1552A>G, XM_006711441.1:c.1552A>G, NM_001122834.4:c.1450A>G, NM_001122834.3:c.1450A>G, NM_001122834.2:c.1450A>G, NM_001170580.3:c.1450A>G, NM_001170580.2:c.1450A>G, NM_001170580.1:c.1450A>G, NM_001170587.3:c.1453A>G, NM_001170587.2:c.1453A>G, NM_001170587.1:c.1453A>G, NM_001170588.3:c.1255A>G, NM_001170588.2:c.1255A>G, NM_001170588.1:c.1255A>G, NM_001170564.3:c.1039A>G, NM_001170564.2:c.1039A>G, NM_001170564.1:c.1039A>G, XM_011509747.2:c.1261A>G, XM_011509747.1:c.1261A>G, XM_047424791.1:c.1693A>G, XM_047424805.1:c.1357A>G, XM_047424804.1:c.1450A>G, XM_047424817.1:c.1141A>G, XM_047424806.1:c.1258A>G, XM_047424811.1:c.1237A>G, XM_047424823.1:c.1066A>G, XM_047424829.1:c.1045A>G, XM_047424835.1:c.1042A>G, XM_047424802.1:c.1528A>G, NP_060664.2:p.Ile484Val, XP_006711504.1:p.Ile518Val, NP_001116306.1:p.Ile484Val, NP_001164051.1:p.Ile484Val, NP_001164058.1:p.Ile485Val, NP_001164059.1:p.Ile419Val, NP_001164035.1:p.Ile347Val, XP_011508049.1:p.Ile421Val, XP_047280747.1:p.Ile565Val, XP_047280761.1:p.Ile453Val, XP_047280760.1:p.Ile484Val, XP_047280773.1:p.Ile381Val, XP_047280762.1:p.Ile420Val, XP_047280767.1:p.Ile413Val, XP_047280779.1:p.Ile356Val, XP_047280785.1:p.Ile349Val, XP_047280791.1:p.Ile348Val, XP_047280758.1:p.Ile510Val

    2.

    rs1487919886 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:210464538 (GRCh38)
      1:210637882 (GRCh37)
      Canonical SPDI:
      NC_000001.11:210464537:A:G
      Gene:
      HHAT (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.210464538A>G, NC_000001.10:g.210637882A>G, NW_011332687.1:g.244280A>G, NM_018194.6:c.890A>G, NM_018194.5:c.890A>G, NM_018194.4:c.890A>G, XM_006711441.4:c.992A>G, XM_006711441.3:c.992A>G, XM_006711441.2:c.992A>G, XM_006711441.1:c.992A>G, NM_001122834.4:c.890A>G, NM_001122834.3:c.890A>G, NM_001122834.2:c.890A>G, NM_001170580.3:c.890A>G, NM_001170580.2:c.890A>G, NM_001170580.1:c.890A>G, NM_001170588.3:c.695A>G, NM_001170588.2:c.695A>G, NM_001170588.1:c.695A>G, NM_001170587.3:c.893A>G, NM_001170587.2:c.893A>G, NM_001170587.1:c.893A>G, NM_001170564.3:c.479A>G, NM_001170564.2:c.479A>G, NM_001170564.1:c.479A>G, XM_011509747.2:c.701A>G, XM_011509747.1:c.701A>G, XM_047424802.1:c.968A>G, XM_047424791.1:c.1133A>G, XM_047424805.1:c.797A>G, XM_047424817.1:c.581A>G, XM_047424806.1:c.698A>G, XM_047424811.1:c.677A>G, XM_047424823.1:c.506A>G, XM_047424835.1:c.482A>G, XM_047424804.1:c.890A>G, XM_047424829.1:c.485A>G, NP_060664.2:p.Tyr297Cys, XP_006711504.1:p.Tyr331Cys, NP_001116306.1:p.Tyr297Cys, NP_001164051.1:p.Tyr297Cys, NP_001164059.1:p.Tyr232Cys, NP_001164058.1:p.Tyr298Cys, NP_001164035.1:p.Tyr160Cys, XP_011508049.1:p.Tyr234Cys, XP_047280758.1:p.Tyr323Cys, XP_047280747.1:p.Tyr378Cys, XP_047280761.1:p.Tyr266Cys, XP_047280773.1:p.Tyr194Cys, XP_047280762.1:p.Tyr233Cys, XP_047280767.1:p.Tyr226Cys, XP_047280779.1:p.Tyr169Cys, XP_047280791.1:p.Tyr161Cys, XP_047280760.1:p.Tyr297Cys, XP_047280785.1:p.Tyr162Cys

      3.

      rs1486645557 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,G [Show Flanks]
        Chromosome:
        1:210513162 (GRCh38)
        1:210686506 (GRCh37)
        Canonical SPDI:
        NC_000001.11:210513161:T:A,NC_000001.11:210513161:T:G
        Gene:
        HHAT (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000031/1 (ALFA)
        G=0.000004/1 (TOPMED)
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.210513162T>A, NC_000001.11:g.210513162T>G, NC_000001.10:g.210686506T>A, NC_000001.10:g.210686506T>G, NW_011332687.1:g.292904T>A, NW_011332687.1:g.292904T>G, NM_018194.6:c.1017T>A, NM_018194.6:c.1017T>G, NM_018194.5:c.1017T>A, NM_018194.5:c.1017T>G, NM_018194.4:c.1017T>A, NM_018194.4:c.1017T>G, XM_006711441.4:c.1119T>A, XM_006711441.4:c.1119T>G, XM_006711441.3:c.1119T>A, XM_006711441.3:c.1119T>G, XM_006711441.2:c.1119T>A, XM_006711441.2:c.1119T>G, XM_006711441.1:c.1119T>A, XM_006711441.1:c.1119T>G, NM_001122834.4:c.1017T>A, NM_001122834.4:c.1017T>G, NM_001122834.3:c.1017T>A, NM_001122834.3:c.1017T>G, NM_001122834.2:c.1017T>A, NM_001122834.2:c.1017T>G, NM_001170580.3:c.1017T>A, NM_001170580.3:c.1017T>G, NM_001170580.2:c.1017T>A, NM_001170580.2:c.1017T>G, NM_001170580.1:c.1017T>A, NM_001170580.1:c.1017T>G, NM_001170588.3:c.822T>A, NM_001170588.3:c.822T>G, NM_001170588.2:c.822T>A, NM_001170588.2:c.822T>G, NM_001170588.1:c.822T>A, NM_001170588.1:c.822T>G, NM_001170587.3:c.1020T>A, NM_001170587.3:c.1020T>G, NM_001170587.2:c.1020T>A, NM_001170587.2:c.1020T>G, NM_001170587.1:c.1020T>A, NM_001170587.1:c.1020T>G, NM_001170564.3:c.606T>A, NM_001170564.3:c.606T>G, NM_001170564.2:c.606T>A, NM_001170564.2:c.606T>G, NM_001170564.1:c.606T>A, NM_001170564.1:c.606T>G, XM_011509747.2:c.828T>A, XM_011509747.2:c.828T>G, XM_011509747.1:c.828T>A, XM_011509747.1:c.828T>G, XM_047424802.1:c.1095T>A, XM_047424802.1:c.1095T>G, XM_047424791.1:c.1260T>A, XM_047424791.1:c.1260T>G, XM_047424805.1:c.924T>A, XM_047424805.1:c.924T>G, XM_047424817.1:c.708T>A, XM_047424817.1:c.708T>G, XM_047424806.1:c.825T>A, XM_047424806.1:c.825T>G, XM_047424811.1:c.804T>A, XM_047424811.1:c.804T>G, XM_047424823.1:c.633T>A, XM_047424823.1:c.633T>G, XM_047424835.1:c.609T>A, XM_047424835.1:c.609T>G, XM_047424804.1:c.1017T>A, XM_047424804.1:c.1017T>G, XM_047424829.1:c.612T>A, XM_047424829.1:c.612T>G, NP_060664.2:p.Asp339Glu, NP_060664.2:p.Asp339Glu, XP_006711504.1:p.Asp373Glu, XP_006711504.1:p.Asp373Glu, NP_001116306.1:p.Asp339Glu, NP_001116306.1:p.Asp339Glu, NP_001164051.1:p.Asp339Glu, NP_001164051.1:p.Asp339Glu, NP_001164059.1:p.Asp274Glu, NP_001164059.1:p.Asp274Glu, NP_001164058.1:p.Asp340Glu, NP_001164058.1:p.Asp340Glu, NP_001164035.1:p.Asp202Glu, NP_001164035.1:p.Asp202Glu, XP_011508049.1:p.Asp276Glu, XP_011508049.1:p.Asp276Glu, XP_047280758.1:p.Asp365Glu, XP_047280758.1:p.Asp365Glu, XP_047280747.1:p.Asp420Glu, XP_047280747.1:p.Asp420Glu, XP_047280761.1:p.Asp308Glu, XP_047280761.1:p.Asp308Glu, XP_047280773.1:p.Asp236Glu, XP_047280773.1:p.Asp236Glu, XP_047280762.1:p.Asp275Glu, XP_047280762.1:p.Asp275Glu, XP_047280767.1:p.Asp268Glu, XP_047280767.1:p.Asp268Glu, XP_047280779.1:p.Asp211Glu, XP_047280779.1:p.Asp211Glu, XP_047280791.1:p.Asp203Glu, XP_047280791.1:p.Asp203Glu, XP_047280760.1:p.Asp339Glu, XP_047280760.1:p.Asp339Glu, XP_047280785.1:p.Asp204Glu, XP_047280785.1:p.Asp204Glu

        4.

        rs1485201545 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:210362875 (GRCh38)
          1:210536219 (GRCh37)
          Canonical SPDI:
          NC_000001.11:210362874:G:A
          Gene:
          HHAT (Varview), LOC124904503 (Varview)
          Functional Consequence:
          intron_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.210362875G>A, NC_000001.10:g.210536219G>A, NW_011332687.1:g.142617G>A, NM_018194.6:c.115G>A, NM_018194.5:c.115G>A, NM_018194.4:c.115G>A, XM_006711441.4:c.217G>A, XM_006711441.3:c.217G>A, XM_006711441.2:c.217G>A, XM_006711441.1:c.217G>A, NM_001122834.4:c.115G>A, NM_001122834.3:c.115G>A, NM_001122834.2:c.115G>A, NM_001170580.3:c.115G>A, NM_001170580.2:c.115G>A, NM_001170580.1:c.115G>A, NM_001170587.3:c.118G>A, NM_001170587.2:c.118G>A, NM_001170587.1:c.118G>A, NM_001170588.3:c.115G>A, NM_001170588.2:c.115G>A, NM_001170588.1:c.115G>A, NM_001170564.3:c.115G>A, NM_001170564.2:c.115G>A, NM_001170564.1:c.115G>A, XM_047424805.1:c.217G>A, XM_047424804.1:c.115G>A, XM_047424817.1:c.217G>A, XM_047424806.1:c.118G>A, XM_047424811.1:c.118G>A, XM_047424835.1:c.118G>A, XM_047424802.1:c.193G>A, NP_060664.2:p.Glu39Lys, XP_006711504.1:p.Glu73Lys, NP_001116306.1:p.Glu39Lys, NP_001164051.1:p.Glu39Lys, NP_001164058.1:p.Glu40Lys, NP_001164059.1:p.Glu39Lys, NP_001164035.1:p.Glu39Lys, XP_047280761.1:p.Glu73Lys, XP_047280760.1:p.Glu39Lys, XP_047280773.1:p.Glu73Lys, XP_047280762.1:p.Glu40Lys, XP_047280767.1:p.Glu40Lys, XP_047280791.1:p.Glu40Lys, XP_047280758.1:p.Glu65Lys

          5.

          rs1483051968 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GG>- [Show Flanks]
            Chromosome:
            1:210588055 (GRCh38)
            1:210761399 (GRCh37)
            Canonical SPDI:
            NC_000001.11:210588054:GG:
            Gene:
            HHAT (Varview)
            Functional Consequence:
            coding_sequence_variant,frameshift_variant
            Validated:
            by frequency
            MAF:
            -=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.210588055_210588056del, NC_000001.10:g.210761399_210761400del, NW_011332687.1:g.367797_367798del, NM_018194.6:c.1201_1202del, NM_018194.5:c.1201_1202del, NM_018194.4:c.1201_1202del, XM_006711441.4:c.1303_1304del, XM_006711441.3:c.1303_1304del, XM_006711441.2:c.1303_1304del, XM_006711441.1:c.1303_1304del, NM_001122834.4:c.1201_1202del, NM_001122834.3:c.1201_1202del, NM_001122834.2:c.1201_1202del, NM_001170580.3:c.1201_1202del, NM_001170580.2:c.1201_1202del, NM_001170580.1:c.1201_1202del, NM_001170588.3:c.1006_1007del, NM_001170588.2:c.1006_1007del, NM_001170588.1:c.1006_1007del, NM_001170587.3:c.1204_1205del, NM_001170587.2:c.1204_1205del, NM_001170587.1:c.1204_1205del, NM_001170564.3:c.790_791del, NM_001170564.2:c.790_791del, NM_001170564.1:c.790_791del, XM_011509747.2:c.1012_1013del, XM_011509747.1:c.1012_1013del, XM_047424802.1:c.1279_1280del, XM_047424791.1:c.1444_1445del, XM_047424805.1:c.1108_1109del, XM_047424817.1:c.892_893del, XM_047424806.1:c.1009_1010del, XM_047424811.1:c.988_989del, XM_047424823.1:c.817_818del, XM_047424835.1:c.793_794del, XM_047424804.1:c.1201_1202del, XM_047424829.1:c.796_797del, NP_060664.2:p.Gly401fs, XP_006711504.1:p.Gly435fs, NP_001116306.1:p.Gly401fs, NP_001164051.1:p.Gly401fs, NP_001164059.1:p.Gly336fs, NP_001164058.1:p.Gly402fs, NP_001164035.1:p.Gly264fs, XP_011508049.1:p.Gly338fs, XP_047280758.1:p.Gly427fs, XP_047280747.1:p.Gly482fs, XP_047280761.1:p.Gly370fs, XP_047280773.1:p.Gly298fs, XP_047280762.1:p.Gly337fs, XP_047280767.1:p.Gly330fs, XP_047280779.1:p.Gly273fs, XP_047280791.1:p.Gly265fs, XP_047280760.1:p.Gly401fs, XP_047280785.1:p.Gly266fs

            6.

            rs1482525530 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:210464521 (GRCh38)
              1:210637865 (GRCh37)
              Canonical SPDI:
              NC_000001.11:210464520:C:T
              Gene:
              HHAT (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.210464521C>T, NC_000001.10:g.210637865C>T, NW_011332687.1:g.244263C>T, NM_018194.6:c.873C>T, NM_018194.5:c.873C>T, NM_018194.4:c.873C>T, XM_006711441.4:c.975C>T, XM_006711441.3:c.975C>T, XM_006711441.2:c.975C>T, XM_006711441.1:c.975C>T, NM_001122834.4:c.873C>T, NM_001122834.3:c.873C>T, NM_001122834.2:c.873C>T, NM_001170580.3:c.873C>T, NM_001170580.2:c.873C>T, NM_001170580.1:c.873C>T, NM_001170588.3:c.678C>T, NM_001170588.2:c.678C>T, NM_001170588.1:c.678C>T, NM_001170587.3:c.876C>T, NM_001170587.2:c.876C>T, NM_001170587.1:c.876C>T, NM_001170564.3:c.462C>T, NM_001170564.2:c.462C>T, NM_001170564.1:c.462C>T, XM_011509747.2:c.684C>T, XM_011509747.1:c.684C>T, XM_047424802.1:c.951C>T, XM_047424791.1:c.1116C>T, XM_047424805.1:c.780C>T, XM_047424817.1:c.564C>T, XM_047424806.1:c.681C>T, XM_047424811.1:c.660C>T, XM_047424823.1:c.489C>T, XM_047424835.1:c.465C>T, XM_047424804.1:c.873C>T, XM_047424829.1:c.468C>T

              7.

              rs1480552168 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:210513154 (GRCh38)
                1:210686498 (GRCh37)
                Canonical SPDI:
                NC_000001.11:210513153:T:C
                Gene:
                HHAT (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000011/3 (TOPMED)
                HGVS:
                NC_000001.11:g.210513154T>C, NC_000001.10:g.210686498T>C, NW_011332687.1:g.292896T>C, NM_018194.6:c.1009T>C, NM_018194.5:c.1009T>C, NM_018194.4:c.1009T>C, XM_006711441.4:c.1111T>C, XM_006711441.3:c.1111T>C, XM_006711441.2:c.1111T>C, XM_006711441.1:c.1111T>C, NM_001122834.4:c.1009T>C, NM_001122834.3:c.1009T>C, NM_001122834.2:c.1009T>C, NM_001170580.3:c.1009T>C, NM_001170580.2:c.1009T>C, NM_001170580.1:c.1009T>C, NM_001170587.3:c.1012T>C, NM_001170587.2:c.1012T>C, NM_001170587.1:c.1012T>C, NM_001170588.3:c.814T>C, NM_001170588.2:c.814T>C, NM_001170588.1:c.814T>C, NM_001170564.3:c.598T>C, NM_001170564.2:c.598T>C, NM_001170564.1:c.598T>C, XM_011509747.2:c.820T>C, XM_011509747.1:c.820T>C, XM_047424805.1:c.916T>C, XM_047424804.1:c.1009T>C, XM_047424817.1:c.700T>C, XM_047424806.1:c.817T>C, XM_047424811.1:c.796T>C, XM_047424823.1:c.625T>C, XM_047424835.1:c.601T>C, XM_047424829.1:c.604T>C, XM_047424791.1:c.1252T>C, XM_047424802.1:c.1087T>C, NP_060664.2:p.Tyr337His, XP_006711504.1:p.Tyr371His, NP_001116306.1:p.Tyr337His, NP_001164051.1:p.Tyr337His, NP_001164058.1:p.Tyr338His, NP_001164059.1:p.Tyr272His, NP_001164035.1:p.Tyr200His, XP_011508049.1:p.Tyr274His, XP_047280761.1:p.Tyr306His, XP_047280760.1:p.Tyr337His, XP_047280773.1:p.Tyr234His, XP_047280762.1:p.Tyr273His, XP_047280767.1:p.Tyr266His, XP_047280779.1:p.Tyr209His, XP_047280791.1:p.Tyr201His, XP_047280785.1:p.Tyr202His, XP_047280747.1:p.Tyr418His, XP_047280758.1:p.Tyr363His

                8.

                rs1477472411 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  1:210464648 (GRCh38)
                  1:210637992 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:210464647:A:G,NC_000001.11:210464647:A:T
                  Gene:
                  HHAT (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000001.11:g.210464648A>G, NC_000001.11:g.210464648A>T, NC_000001.10:g.210637992A>G, NC_000001.10:g.210637992A>T, NW_011332687.1:g.244390A>G, NW_011332687.1:g.244390A>T, NM_018194.6:c.1000A>G, NM_018194.6:c.1000A>T, NM_018194.5:c.1000A>G, NM_018194.5:c.1000A>T, NM_018194.4:c.1000A>G, NM_018194.4:c.1000A>T, XM_006711441.4:c.1102A>G, XM_006711441.4:c.1102A>T, XM_006711441.3:c.1102A>G, XM_006711441.3:c.1102A>T, XM_006711441.2:c.1102A>G, XM_006711441.2:c.1102A>T, XM_006711441.1:c.1102A>G, XM_006711441.1:c.1102A>T, NM_001122834.4:c.1000A>G, NM_001122834.4:c.1000A>T, NM_001122834.3:c.1000A>G, NM_001122834.3:c.1000A>T, NM_001122834.2:c.1000A>G, NM_001122834.2:c.1000A>T, NM_001170580.3:c.1000A>G, NM_001170580.3:c.1000A>T, NM_001170580.2:c.1000A>G, NM_001170580.2:c.1000A>T, NM_001170580.1:c.1000A>G, NM_001170580.1:c.1000A>T, NM_001170587.3:c.1003A>G, NM_001170587.3:c.1003A>T, NM_001170587.2:c.1003A>G, NM_001170587.2:c.1003A>T, NM_001170587.1:c.1003A>G, NM_001170587.1:c.1003A>T, NM_001170588.3:c.805A>G, NM_001170588.3:c.805A>T, NM_001170588.2:c.805A>G, NM_001170588.2:c.805A>T, NM_001170588.1:c.805A>G, NM_001170588.1:c.805A>T, NM_001170564.3:c.589A>G, NM_001170564.3:c.589A>T, NM_001170564.2:c.589A>G, NM_001170564.2:c.589A>T, NM_001170564.1:c.589A>G, NM_001170564.1:c.589A>T, XM_011509747.2:c.811A>G, XM_011509747.2:c.811A>T, XM_011509747.1:c.811A>G, XM_011509747.1:c.811A>T, XM_047424791.1:c.1243A>G, XM_047424791.1:c.1243A>T, XM_047424805.1:c.907A>G, XM_047424805.1:c.907A>T, XM_047424804.1:c.1000A>G, XM_047424804.1:c.1000A>T, XM_047424817.1:c.691A>G, XM_047424817.1:c.691A>T, XM_047424806.1:c.808A>G, XM_047424806.1:c.808A>T, XM_047424811.1:c.787A>G, XM_047424811.1:c.787A>T, XM_047424823.1:c.616A>G, XM_047424823.1:c.616A>T, XM_047424829.1:c.595A>G, XM_047424829.1:c.595A>T, XM_047424835.1:c.592A>G, XM_047424835.1:c.592A>T, XM_047424802.1:c.1078A>G, XM_047424802.1:c.1078A>T, NP_060664.2:p.Met334Val, NP_060664.2:p.Met334Leu, XP_006711504.1:p.Met368Val, XP_006711504.1:p.Met368Leu, NP_001116306.1:p.Met334Val, NP_001116306.1:p.Met334Leu, NP_001164051.1:p.Met334Val, NP_001164051.1:p.Met334Leu, NP_001164058.1:p.Met335Val, NP_001164058.1:p.Met335Leu, NP_001164059.1:p.Met269Val, NP_001164059.1:p.Met269Leu, NP_001164035.1:p.Met197Val, NP_001164035.1:p.Met197Leu, XP_011508049.1:p.Met271Val, XP_011508049.1:p.Met271Leu, XP_047280747.1:p.Met415Val, XP_047280747.1:p.Met415Leu, XP_047280761.1:p.Met303Val, XP_047280761.1:p.Met303Leu, XP_047280760.1:p.Met334Val, XP_047280760.1:p.Met334Leu, XP_047280773.1:p.Met231Val, XP_047280773.1:p.Met231Leu, XP_047280762.1:p.Met270Val, XP_047280762.1:p.Met270Leu, XP_047280767.1:p.Met263Val, XP_047280767.1:p.Met263Leu, XP_047280779.1:p.Met206Val, XP_047280779.1:p.Met206Leu, XP_047280785.1:p.Met199Val, XP_047280785.1:p.Met199Leu, XP_047280791.1:p.Met198Val, XP_047280791.1:p.Met198Leu, XP_047280758.1:p.Met360Val, XP_047280758.1:p.Met360Leu

                  9.

                  rs1475853230 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:210400576 (GRCh38)
                    1:210573920 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:210400575:G:A
                    Gene:
                    HHAT (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000001.11:g.210400576G>A, NC_000001.10:g.210573920G>A, NW_011332687.1:g.180318G>A, NM_018194.6:c.382G>A, NM_018194.5:c.382G>A, NM_018194.4:c.382G>A, XM_006711441.4:c.484G>A, XM_006711441.3:c.484G>A, XM_006711441.2:c.484G>A, XM_006711441.1:c.484G>A, NM_001122834.4:c.382G>A, NM_001122834.3:c.382G>A, NM_001122834.2:c.382G>A, NM_001170580.3:c.382G>A, NM_001170580.2:c.382G>A, NM_001170580.1:c.382G>A, NM_001170587.3:c.385G>A, NM_001170587.2:c.385G>A, NM_001170587.1:c.385G>A, XM_011509747.2:c.193G>A, XM_011509747.1:c.193G>A, XM_047424802.1:c.460G>A, XM_047424791.1:c.625G>A, XM_047424804.1:c.382G>A, XM_047424811.1:c.385G>A, XM_047424829.1:c.193G>A, NP_060664.2:p.Ala128Thr, XP_006711504.1:p.Ala162Thr, NP_001116306.1:p.Ala128Thr, NP_001164051.1:p.Ala128Thr, NP_001164058.1:p.Ala129Thr, XP_011508049.1:p.Ala65Thr, XP_047280758.1:p.Ala154Thr, XP_047280747.1:p.Ala209Thr, XP_047280760.1:p.Ala128Thr, XP_047280767.1:p.Ala129Thr, XP_047280785.1:p.Ala65Thr

                    10.

                    rs1475643148 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:210464523 (GRCh38)
                      1:210637867 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:210464522:A:G
                      Gene:
                      HHAT (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.210464523A>G, NC_000001.10:g.210637867A>G, NW_011332687.1:g.244265A>G, NM_018194.6:c.875A>G, NM_018194.5:c.875A>G, NM_018194.4:c.875A>G, XM_006711441.4:c.977A>G, XM_006711441.3:c.977A>G, XM_006711441.2:c.977A>G, XM_006711441.1:c.977A>G, NM_001122834.4:c.875A>G, NM_001122834.3:c.875A>G, NM_001122834.2:c.875A>G, NM_001170580.3:c.875A>G, NM_001170580.2:c.875A>G, NM_001170580.1:c.875A>G, NM_001170588.3:c.680A>G, NM_001170588.2:c.680A>G, NM_001170588.1:c.680A>G, NM_001170587.3:c.878A>G, NM_001170587.2:c.878A>G, NM_001170587.1:c.878A>G, NM_001170564.3:c.464A>G, NM_001170564.2:c.464A>G, NM_001170564.1:c.464A>G, XM_011509747.2:c.686A>G, XM_011509747.1:c.686A>G, XM_047424802.1:c.953A>G, XM_047424791.1:c.1118A>G, XM_047424805.1:c.782A>G, XM_047424817.1:c.566A>G, XM_047424806.1:c.683A>G, XM_047424811.1:c.662A>G, XM_047424823.1:c.491A>G, XM_047424835.1:c.467A>G, XM_047424804.1:c.875A>G, XM_047424829.1:c.470A>G, NP_060664.2:p.Gln292Arg, XP_006711504.1:p.Gln326Arg, NP_001116306.1:p.Gln292Arg, NP_001164051.1:p.Gln292Arg, NP_001164059.1:p.Gln227Arg, NP_001164058.1:p.Gln293Arg, NP_001164035.1:p.Gln155Arg, XP_011508049.1:p.Gln229Arg, XP_047280758.1:p.Gln318Arg, XP_047280747.1:p.Gln373Arg, XP_047280761.1:p.Gln261Arg, XP_047280773.1:p.Gln189Arg, XP_047280762.1:p.Gln228Arg, XP_047280767.1:p.Gln221Arg, XP_047280779.1:p.Gln164Arg, XP_047280791.1:p.Gln156Arg, XP_047280760.1:p.Gln292Arg, XP_047280785.1:p.Gln157Arg

                      11.

                      rs1475019815 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:210387546 (GRCh38)
                        1:210560890 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:210387545:G:A
                        Gene:
                        HHAT (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.210387546G>A, NC_000001.10:g.210560890G>A, NW_011332687.1:g.167288G>A, NM_018194.6:c.238G>A, NM_018194.5:c.238G>A, NM_018194.4:c.238G>A, XM_006711441.4:c.340G>A, XM_006711441.3:c.340G>A, XM_006711441.2:c.340G>A, XM_006711441.1:c.340G>A, NM_001122834.4:c.238G>A, NM_001122834.3:c.238G>A, NM_001122834.2:c.238G>A, NM_001170580.3:c.238G>A, NM_001170580.2:c.238G>A, NM_001170580.1:c.238G>A, NM_001170587.3:c.241G>A, NM_001170587.2:c.241G>A, NM_001170587.1:c.241G>A, NM_001170588.3:c.238G>A, NM_001170588.2:c.238G>A, NM_001170588.1:c.238G>A, NM_001170564.3:c.238G>A, NM_001170564.2:c.238G>A, NM_001170564.1:c.238G>A, XM_011509747.2:c.49G>A, XM_011509747.1:c.49G>A, XM_047424791.1:c.481G>A, XM_047424805.1:c.340G>A, XM_047424804.1:c.238G>A, XM_047424817.1:c.340G>A, XM_047424806.1:c.241G>A, XM_047424811.1:c.241G>A, XM_047424823.1:c.49G>A, XM_047424829.1:c.49G>A, XM_047424835.1:c.241G>A, XM_047424802.1:c.316G>A, NP_060664.2:p.Val80Ile, XP_006711504.1:p.Val114Ile, NP_001116306.1:p.Val80Ile, NP_001164051.1:p.Val80Ile, NP_001164058.1:p.Val81Ile, NP_001164059.1:p.Val80Ile, NP_001164035.1:p.Val80Ile, XP_011508049.1:p.Val17Ile, XP_047280747.1:p.Val161Ile, XP_047280761.1:p.Val114Ile, XP_047280760.1:p.Val80Ile, XP_047280773.1:p.Val114Ile, XP_047280762.1:p.Val81Ile, XP_047280767.1:p.Val81Ile, XP_047280779.1:p.Val17Ile, XP_047280785.1:p.Val17Ile, XP_047280791.1:p.Val81Ile, XP_047280758.1:p.Val106Ile

                        12.

                        rs1473937850 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:210387528 (GRCh38)
                          1:210560872 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:210387527:C:G
                          Gene:
                          HHAT (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000001.11:g.210387528C>G, NC_000001.10:g.210560872C>G, NW_011332687.1:g.167270C>G, NM_018194.6:c.220C>G, NM_018194.5:c.220C>G, NM_018194.4:c.220C>G, XM_006711441.4:c.322C>G, XM_006711441.3:c.322C>G, XM_006711441.2:c.322C>G, XM_006711441.1:c.322C>G, NM_001122834.4:c.220C>G, NM_001122834.3:c.220C>G, NM_001122834.2:c.220C>G, NM_001170580.3:c.220C>G, NM_001170580.2:c.220C>G, NM_001170580.1:c.220C>G, NM_001170587.3:c.223C>G, NM_001170587.2:c.223C>G, NM_001170587.1:c.223C>G, NM_001170588.3:c.220C>G, NM_001170588.2:c.220C>G, NM_001170588.1:c.220C>G, NM_001170564.3:c.220C>G, NM_001170564.2:c.220C>G, NM_001170564.1:c.220C>G, XM_011509747.2:c.31C>G, XM_011509747.1:c.31C>G, XM_047424805.1:c.322C>G, XM_047424804.1:c.220C>G, XM_047424817.1:c.322C>G, XM_047424806.1:c.223C>G, XM_047424811.1:c.223C>G, XM_047424823.1:c.31C>G, XM_047424835.1:c.223C>G, XM_047424829.1:c.31C>G, XM_047424791.1:c.463C>G, XM_047424802.1:c.298C>G, NP_060664.2:p.Leu74Val, XP_006711504.1:p.Leu108Val, NP_001116306.1:p.Leu74Val, NP_001164051.1:p.Leu74Val, NP_001164058.1:p.Leu75Val, NP_001164059.1:p.Leu74Val, NP_001164035.1:p.Leu74Val, XP_011508049.1:p.Leu11Val, XP_047280761.1:p.Leu108Val, XP_047280760.1:p.Leu74Val, XP_047280773.1:p.Leu108Val, XP_047280762.1:p.Leu75Val, XP_047280767.1:p.Leu75Val, XP_047280779.1:p.Leu11Val, XP_047280791.1:p.Leu75Val, XP_047280785.1:p.Leu11Val, XP_047280747.1:p.Leu155Val, XP_047280758.1:p.Leu100Val

                          13.

                          rs1473013625 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:210674288 (GRCh38)
                            1:210847630 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:210674287:G:C
                            Gene:
                            HHAT (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.210674288G>C, NC_000001.10:g.210847630G>C, NW_011332687.1:g.457387G>C, NM_018194.6:c.1391G>C, NM_018194.5:c.1391G>C, NM_018194.4:c.1391G>C, XM_006711441.4:c.1493G>C, XM_006711441.3:c.1493G>C, XM_006711441.2:c.1493G>C, XM_006711441.1:c.1493G>C, NM_001122834.4:c.1391G>C, NM_001122834.3:c.1391G>C, NM_001122834.2:c.1391G>C, NM_001170580.3:c.1391G>C, NM_001170580.2:c.1391G>C, NM_001170580.1:c.1391G>C, NM_001170588.3:c.1196G>C, NM_001170588.2:c.1196G>C, NM_001170588.1:c.1196G>C, NM_001170587.3:c.1394G>C, NM_001170587.2:c.1394G>C, NM_001170587.1:c.1394G>C, NM_001170564.3:c.980G>C, NM_001170564.2:c.980G>C, NM_001170564.1:c.980G>C, XM_011509747.2:c.1202G>C, XM_011509747.1:c.1202G>C, XM_047424802.1:c.1469G>C, XM_047424791.1:c.1634G>C, XM_047424805.1:c.1298G>C, XM_047424817.1:c.1082G>C, XM_047424806.1:c.1199G>C, XM_047424811.1:c.1178G>C, XM_047424823.1:c.1007G>C, XM_047424835.1:c.983G>C, XM_047424804.1:c.1391G>C, XM_047424829.1:c.986G>C, NP_060664.2:p.Gly464Ala, XP_006711504.1:p.Gly498Ala, NP_001116306.1:p.Gly464Ala, NP_001164051.1:p.Gly464Ala, NP_001164059.1:p.Gly399Ala, NP_001164058.1:p.Gly465Ala, NP_001164035.1:p.Gly327Ala, XP_011508049.1:p.Gly401Ala, XP_047280758.1:p.Gly490Ala, XP_047280747.1:p.Gly545Ala, XP_047280761.1:p.Gly433Ala, XP_047280773.1:p.Gly361Ala, XP_047280762.1:p.Gly400Ala, XP_047280767.1:p.Gly393Ala, XP_047280779.1:p.Gly336Ala, XP_047280791.1:p.Gly328Ala, XP_047280760.1:p.Gly464Ala, XP_047280785.1:p.Gly329Ala

                            14.

                            rs1472535776 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:210588008 (GRCh38)
                              1:210761352 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:210588007:T:C
                              Gene:
                              HHAT (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.210588008T>C, NC_000001.10:g.210761352T>C, NW_011332687.1:g.367750T>C, NM_018194.6:c.1154T>C, NM_018194.5:c.1154T>C, NM_018194.4:c.1154T>C, XM_006711441.4:c.1256T>C, XM_006711441.3:c.1256T>C, XM_006711441.2:c.1256T>C, XM_006711441.1:c.1256T>C, NM_001122834.4:c.1154T>C, NM_001122834.3:c.1154T>C, NM_001122834.2:c.1154T>C, NM_001170580.3:c.1154T>C, NM_001170580.2:c.1154T>C, NM_001170580.1:c.1154T>C, NM_001170588.3:c.959T>C, NM_001170588.2:c.959T>C, NM_001170588.1:c.959T>C, NM_001170587.3:c.1157T>C, NM_001170587.2:c.1157T>C, NM_001170587.1:c.1157T>C, NM_001170564.3:c.743T>C, NM_001170564.2:c.743T>C, NM_001170564.1:c.743T>C, XM_011509747.2:c.965T>C, XM_011509747.1:c.965T>C, XM_047424802.1:c.1232T>C, XM_047424791.1:c.1397T>C, XM_047424805.1:c.1061T>C, XM_047424817.1:c.845T>C, XM_047424806.1:c.962T>C, XM_047424811.1:c.941T>C, XM_047424823.1:c.770T>C, XM_047424835.1:c.746T>C, XM_047424804.1:c.1154T>C, XM_047424829.1:c.749T>C, NP_060664.2:p.Leu385Pro, XP_006711504.1:p.Leu419Pro, NP_001116306.1:p.Leu385Pro, NP_001164051.1:p.Leu385Pro, NP_001164059.1:p.Leu320Pro, NP_001164058.1:p.Leu386Pro, NP_001164035.1:p.Leu248Pro, XP_011508049.1:p.Leu322Pro, XP_047280758.1:p.Leu411Pro, XP_047280747.1:p.Leu466Pro, XP_047280761.1:p.Leu354Pro, XP_047280773.1:p.Leu282Pro, XP_047280762.1:p.Leu321Pro, XP_047280767.1:p.Leu314Pro, XP_047280779.1:p.Leu257Pro, XP_047280791.1:p.Leu249Pro, XP_047280760.1:p.Leu385Pro, XP_047280785.1:p.Leu250Pro

                              15.

                              rs1472183131 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:210587948 (GRCh38)
                                1:210761292 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:210587947:T:G
                                Gene:
                                HHAT (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.210587948T>G, NC_000001.10:g.210761292T>G, NW_011332687.1:g.367690T>G, NM_018194.6:c.1094T>G, NM_018194.5:c.1094T>G, NM_018194.4:c.1094T>G, XM_006711441.4:c.1196T>G, XM_006711441.3:c.1196T>G, XM_006711441.2:c.1196T>G, XM_006711441.1:c.1196T>G, NM_001122834.4:c.1094T>G, NM_001122834.3:c.1094T>G, NM_001122834.2:c.1094T>G, NM_001170580.3:c.1094T>G, NM_001170580.2:c.1094T>G, NM_001170580.1:c.1094T>G, NM_001170588.3:c.899T>G, NM_001170588.2:c.899T>G, NM_001170588.1:c.899T>G, NM_001170587.3:c.1097T>G, NM_001170587.2:c.1097T>G, NM_001170587.1:c.1097T>G, NM_001170564.3:c.683T>G, NM_001170564.2:c.683T>G, NM_001170564.1:c.683T>G, XM_011509747.2:c.905T>G, XM_011509747.1:c.905T>G, XM_047424802.1:c.1172T>G, XM_047424791.1:c.1337T>G, XM_047424805.1:c.1001T>G, XM_047424804.1:c.1094T>G, XM_047424817.1:c.785T>G, XM_047424806.1:c.902T>G, XM_047424811.1:c.881T>G, XM_047424823.1:c.710T>G, XM_047424835.1:c.686T>G, XM_047424829.1:c.689T>G, NP_060664.2:p.Leu365Arg, XP_006711504.1:p.Leu399Arg, NP_001116306.1:p.Leu365Arg, NP_001164051.1:p.Leu365Arg, NP_001164059.1:p.Leu300Arg, NP_001164058.1:p.Leu366Arg, NP_001164035.1:p.Leu228Arg, XP_011508049.1:p.Leu302Arg, XP_047280758.1:p.Leu391Arg, XP_047280747.1:p.Leu446Arg, XP_047280761.1:p.Leu334Arg, XP_047280760.1:p.Leu365Arg, XP_047280773.1:p.Leu262Arg, XP_047280762.1:p.Leu301Arg, XP_047280767.1:p.Leu294Arg, XP_047280779.1:p.Leu237Arg, XP_047280791.1:p.Leu229Arg, XP_047280785.1:p.Leu230Arg

                                16.

                                rs1471698324 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:210513172 (GRCh38)
                                  1:210686516 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:210513171:C:T
                                  Gene:
                                  HHAT (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000078/19 (GnomAD_exomes)
                                  T=0.000185/26 (GnomAD)
                                  T=0.000204/54 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.210513172C>T, NC_000001.10:g.210686516C>T, NW_011332687.1:g.292914C>T, NM_018194.6:c.1027C>T, NM_018194.5:c.1027C>T, NM_018194.4:c.1027C>T, XM_006711441.4:c.1129C>T, XM_006711441.3:c.1129C>T, XM_006711441.2:c.1129C>T, XM_006711441.1:c.1129C>T, NM_001122834.4:c.1027C>T, NM_001122834.3:c.1027C>T, NM_001122834.2:c.1027C>T, NM_001170580.3:c.1027C>T, NM_001170580.2:c.1027C>T, NM_001170580.1:c.1027C>T, NM_001170588.3:c.832C>T, NM_001170588.2:c.832C>T, NM_001170588.1:c.832C>T, NM_001170587.3:c.1030C>T, NM_001170587.2:c.1030C>T, NM_001170587.1:c.1030C>T, NM_001170564.3:c.616C>T, NM_001170564.2:c.616C>T, NM_001170564.1:c.616C>T, XM_011509747.2:c.838C>T, XM_011509747.1:c.838C>T, XM_047424802.1:c.1105C>T, XM_047424791.1:c.1270C>T, XM_047424805.1:c.934C>T, XM_047424817.1:c.718C>T, XM_047424806.1:c.835C>T, XM_047424811.1:c.814C>T, XM_047424823.1:c.643C>T, XM_047424835.1:c.619C>T, XM_047424804.1:c.1027C>T, XM_047424829.1:c.622C>T, NP_060664.2:p.His343Tyr, XP_006711504.1:p.His377Tyr, NP_001116306.1:p.His343Tyr, NP_001164051.1:p.His343Tyr, NP_001164059.1:p.His278Tyr, NP_001164058.1:p.His344Tyr, NP_001164035.1:p.His206Tyr, XP_011508049.1:p.His280Tyr, XP_047280758.1:p.His369Tyr, XP_047280747.1:p.His424Tyr, XP_047280761.1:p.His312Tyr, XP_047280773.1:p.His240Tyr, XP_047280762.1:p.His279Tyr, XP_047280767.1:p.His272Tyr, XP_047280779.1:p.His215Tyr, XP_047280791.1:p.His207Tyr, XP_047280760.1:p.His343Tyr, XP_047280785.1:p.His208Tyr

                                  17.

                                  rs1471597942 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:210588003 (GRCh38)
                                    1:210761347 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:210588002:C:G
                                    Gene:
                                    HHAT (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.210588003C>G, NC_000001.10:g.210761347C>G, NW_011332687.1:g.367745C>G, NM_018194.6:c.1149C>G, NM_018194.5:c.1149C>G, NM_018194.4:c.1149C>G, XM_006711441.4:c.1251C>G, XM_006711441.3:c.1251C>G, XM_006711441.2:c.1251C>G, XM_006711441.1:c.1251C>G, NM_001122834.4:c.1149C>G, NM_001122834.3:c.1149C>G, NM_001122834.2:c.1149C>G, NM_001170580.3:c.1149C>G, NM_001170580.2:c.1149C>G, NM_001170580.1:c.1149C>G, NM_001170588.3:c.954C>G, NM_001170588.2:c.954C>G, NM_001170588.1:c.954C>G, NM_001170587.3:c.1152C>G, NM_001170587.2:c.1152C>G, NM_001170587.1:c.1152C>G, NM_001170564.3:c.738C>G, NM_001170564.2:c.738C>G, NM_001170564.1:c.738C>G, XM_011509747.2:c.960C>G, XM_011509747.1:c.960C>G, XM_047424802.1:c.1227C>G, XM_047424791.1:c.1392C>G, XM_047424805.1:c.1056C>G, XM_047424817.1:c.840C>G, XM_047424806.1:c.957C>G, XM_047424811.1:c.936C>G, XM_047424823.1:c.765C>G, XM_047424835.1:c.741C>G, XM_047424804.1:c.1149C>G, XM_047424829.1:c.744C>G, NP_060664.2:p.Asp383Glu, XP_006711504.1:p.Asp417Glu, NP_001116306.1:p.Asp383Glu, NP_001164051.1:p.Asp383Glu, NP_001164059.1:p.Asp318Glu, NP_001164058.1:p.Asp384Glu, NP_001164035.1:p.Asp246Glu, XP_011508049.1:p.Asp320Glu, XP_047280758.1:p.Asp409Glu, XP_047280747.1:p.Asp464Glu, XP_047280761.1:p.Asp352Glu, XP_047280773.1:p.Asp280Glu, XP_047280762.1:p.Asp319Glu, XP_047280767.1:p.Asp312Glu, XP_047280779.1:p.Asp255Glu, XP_047280791.1:p.Asp247Glu, XP_047280760.1:p.Asp383Glu, XP_047280785.1:p.Asp248Glu

                                    18.

                                    rs1470283883 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:210404613 (GRCh38)
                                      1:210577957 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:210404612:C:T
                                      Gene:
                                      HHAT (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1468755372 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:210418281 (GRCh38)
                                        1:210591625 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:210418280:A:G
                                        Gene:
                                        HHAT (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.210418281A>G, NC_000001.10:g.210591625A>G, NW_011332687.1:g.198023A>G, NM_018194.6:c.812A>G, NM_018194.5:c.812A>G, NM_018194.4:c.812A>G, XM_006711441.4:c.914A>G, XM_006711441.3:c.914A>G, XM_006711441.2:c.914A>G, XM_006711441.1:c.914A>G, NM_001122834.4:c.812A>G, NM_001122834.3:c.812A>G, NM_001122834.2:c.812A>G, NM_001170580.3:c.812A>G, NM_001170580.2:c.812A>G, NM_001170580.1:c.812A>G, NM_001170588.3:c.617A>G, NM_001170588.2:c.617A>G, NM_001170588.1:c.617A>G, NM_001170587.3:c.815A>G, NM_001170587.2:c.815A>G, NM_001170587.1:c.815A>G, NM_001170564.3:c.401A>G, NM_001170564.2:c.401A>G, NM_001170564.1:c.401A>G, XM_011509747.2:c.623A>G, XM_011509747.1:c.623A>G, XM_047424802.1:c.890A>G, XM_047424791.1:c.1055A>G, XM_047424805.1:c.719A>G, XM_047424804.1:c.812A>G, XM_047424817.1:c.503A>G, XM_047424806.1:c.620A>G, XM_047424811.1:c.599A>G, XM_047424823.1:c.428A>G, XM_047424835.1:c.404A>G, XM_047424829.1:c.407A>G, NP_060664.2:p.Tyr271Cys, XP_006711504.1:p.Tyr305Cys, NP_001116306.1:p.Tyr271Cys, NP_001164051.1:p.Tyr271Cys, NP_001164059.1:p.Tyr206Cys, NP_001164058.1:p.Tyr272Cys, NP_001164035.1:p.Tyr134Cys, XP_011508049.1:p.Tyr208Cys, XP_047280758.1:p.Tyr297Cys, XP_047280747.1:p.Tyr352Cys, XP_047280761.1:p.Tyr240Cys, XP_047280760.1:p.Tyr271Cys, XP_047280773.1:p.Tyr168Cys, XP_047280762.1:p.Tyr207Cys, XP_047280767.1:p.Tyr200Cys, XP_047280779.1:p.Tyr143Cys, XP_047280791.1:p.Tyr135Cys, XP_047280785.1:p.Tyr136Cys

                                        20.

                                        rs1467692573 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:210349065 (GRCh38)
                                          1:210522409 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:210349064:A:G
                                          Gene:
                                          HHAT (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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