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Items: 1 to 20 of 136

1.

rs1489994169 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:20920179 (GRCh38)
    16:20931501 (GRCh37)
    Canonical SPDI:
    NC_000016.10:20920178:A:G
    Gene:
    LYRM1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.20920179A>G, NC_000016.9:g.20931501A>G, NM_020424.5:c.217A>G, NM_020424.4:c.217A>G, NM_020424.3:c.217A>G, NM_001128301.3:c.217A>G, NM_001128301.2:c.217A>G, NM_001128301.1:c.217A>G, XM_011545908.3:c.232A>G, XM_011545908.2:c.232A>G, XM_011545908.1:c.232A>G, XM_011545901.3:c.232A>G, XM_011545901.2:c.232A>G, XM_011545901.1:c.232A>G, NM_001128302.3:c.217A>G, NM_001128302.2:c.217A>G, NM_001128302.1:c.217A>G, XM_011545900.3:c.232A>G, XM_011545900.2:c.232A>G, XM_011545900.1:c.232A>G, XM_017023475.2:c.610A>G, XM_017023475.1:c.847A>G, NM_001302835.2:c.217A>G, NM_001302835.1:c.217A>G, NM_001302836.2:c.217A>G, NM_001302836.1:c.217A>G, XM_017023478.2:c.232A>G, XM_017023478.1:c.232A>G, NR_126528.2:n.413A>G, NR_126528.1:n.528A>G, NR_126516.2:n.409A>G, NR_126516.1:n.514A>G, NR_126520.2:n.181A>G, NR_126520.1:n.296A>G, NR_126521.2:n.177A>G, NR_126521.1:n.282A>G, NR_126527.2:n.141A>G, NR_126527.1:n.110A>G, XM_047434375.1:c.232A>G, XM_047434376.1:c.232A>G, XM_047434379.1:c.232A>G, XM_047434373.1:c.232A>G, XM_047434380.1:c.217A>G, XM_047434378.1:c.232A>G, XM_047434371.1:c.595A>G, NM_001369642.1:c.217A>G, XM_047434372.1:c.232A>G, NM_001369645.1:c.217A>G, NM_001369631.1:c.232A>G, XM_047434374.1:c.232A>G, NM_001369633.1:c.217A>G, NM_001369638.1:c.217A>G, NM_001369639.1:c.217A>G, NR_161432.1:n.491A>G, XM_047434377.1:c.232A>G, NR_161429.1:n.424A>G, NM_001369634.1:c.217A>G, NM_001369644.1:c.217A>G, NM_001369636.1:c.217A>G, NR_161426.1:n.403A>G, NR_161431.1:n.373A>G, NM_001369641.1:c.217A>G, NM_001369632.1:c.217A>G, NM_001369637.1:c.217A>G, NM_001369635.1:c.217A>G, NR_161425.1:n.181A>G, NP_065157.1:p.Ile73Val, NP_001121773.1:p.Ile73Val, XP_011544210.1:p.Ile78Val, XP_011544203.1:p.Ile78Val, NP_001121774.1:p.Ile73Val, XP_011544202.1:p.Ile78Val, XP_016878964.2:p.Ile204Val, NP_001289764.1:p.Ile73Val, NP_001289765.1:p.Ile73Val, XP_016878967.1:p.Ile78Val, XP_047290331.1:p.Ile78Val, XP_047290332.1:p.Ile78Val, XP_047290335.1:p.Ile78Val, XP_047290329.1:p.Ile78Val, XP_047290336.1:p.Ile73Val, XP_047290334.1:p.Ile78Val, XP_047290327.1:p.Ile199Val, NP_001356571.1:p.Ile73Val, XP_047290328.1:p.Ile78Val, NP_001356574.1:p.Ile73Val, NP_001356560.1:p.Ile78Val, XP_047290330.1:p.Ile78Val, NP_001356562.1:p.Ile73Val, NP_001356567.1:p.Ile73Val, NP_001356568.1:p.Ile73Val, XP_047290333.1:p.Ile78Val, NP_001356563.1:p.Ile73Val, NP_001356573.1:p.Ile73Val, NP_001356565.1:p.Ile73Val, NP_001356570.1:p.Ile73Val, NP_001356561.1:p.Ile73Val, NP_001356566.1:p.Ile73Val, NP_001356564.1:p.Ile73Val

    2.

    rs1479175927 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      16:20920203 (GRCh38)
      16:20931525 (GRCh37)
      Canonical SPDI:
      NC_000016.10:20920202:T:C
      Gene:
      LYRM1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.20920203T>C, NC_000016.9:g.20931525T>C, NM_020424.5:c.241T>C, NM_020424.4:c.241T>C, NM_020424.3:c.241T>C, NM_001128301.3:c.241T>C, NM_001128301.2:c.241T>C, NM_001128301.1:c.241T>C, XM_011545908.3:c.256T>C, XM_011545908.2:c.256T>C, XM_011545908.1:c.256T>C, XM_011545901.3:c.256T>C, XM_011545901.2:c.256T>C, XM_011545901.1:c.256T>C, NM_001128302.3:c.241T>C, NM_001128302.2:c.241T>C, NM_001128302.1:c.241T>C, XM_011545900.3:c.256T>C, XM_011545900.2:c.256T>C, XM_011545900.1:c.256T>C, XM_017023475.2:c.634T>C, XM_017023475.1:c.871T>C, NM_001302835.2:c.241T>C, NM_001302835.1:c.241T>C, NM_001302836.2:c.241T>C, NM_001302836.1:c.241T>C, XM_017023478.2:c.256T>C, XM_017023478.1:c.256T>C, NR_126528.2:n.437T>C, NR_126528.1:n.552T>C, NR_126516.2:n.433T>C, NR_126516.1:n.538T>C, NR_126520.2:n.205T>C, NR_126520.1:n.320T>C, NR_126521.2:n.201T>C, NR_126521.1:n.306T>C, NR_126527.2:n.165T>C, NR_126527.1:n.134T>C, XM_047434375.1:c.256T>C, XM_047434376.1:c.256T>C, XM_047434379.1:c.256T>C, XM_047434373.1:c.256T>C, XM_047434380.1:c.241T>C, XM_047434378.1:c.256T>C, XM_047434371.1:c.619T>C, NM_001369642.1:c.241T>C, XM_047434372.1:c.256T>C, NM_001369645.1:c.241T>C, NM_001369631.1:c.256T>C, XM_047434374.1:c.256T>C, NM_001369633.1:c.241T>C, NM_001369638.1:c.241T>C, NM_001369639.1:c.241T>C, NR_161432.1:n.515T>C, XM_047434377.1:c.256T>C, NR_161429.1:n.448T>C, NM_001369634.1:c.241T>C, NM_001369644.1:c.241T>C, NM_001369636.1:c.241T>C, NR_161426.1:n.427T>C, NR_161431.1:n.397T>C, NM_001369641.1:c.241T>C, NM_001369632.1:c.241T>C, NM_001369637.1:c.241T>C, NM_001369635.1:c.241T>C, NR_161425.1:n.205T>C, NP_065157.1:p.Tyr81His, NP_001121773.1:p.Tyr81His, XP_011544210.1:p.Tyr86His, XP_011544203.1:p.Tyr86His, NP_001121774.1:p.Tyr81His, XP_011544202.1:p.Tyr86His, XP_016878964.2:p.Tyr212His, NP_001289764.1:p.Tyr81His, NP_001289765.1:p.Tyr81His, XP_016878967.1:p.Tyr86His, XP_047290331.1:p.Tyr86His, XP_047290332.1:p.Tyr86His, XP_047290335.1:p.Tyr86His, XP_047290329.1:p.Tyr86His, XP_047290336.1:p.Tyr81His, XP_047290334.1:p.Tyr86His, XP_047290327.1:p.Tyr207His, NP_001356571.1:p.Tyr81His, XP_047290328.1:p.Tyr86His, NP_001356574.1:p.Tyr81His, NP_001356560.1:p.Tyr86His, XP_047290330.1:p.Tyr86His, NP_001356562.1:p.Tyr81His, NP_001356567.1:p.Tyr81His, NP_001356568.1:p.Tyr81His, XP_047290333.1:p.Tyr86His, NP_001356563.1:p.Tyr81His, NP_001356573.1:p.Tyr81His, NP_001356565.1:p.Tyr81His, NP_001356570.1:p.Tyr81His, NP_001356561.1:p.Tyr81His, NP_001356566.1:p.Tyr81His, NP_001356564.1:p.Tyr81His

      3.

      rs1478712250 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        16:20924046 (GRCh38)
        16:20935368 (GRCh37)
        Canonical SPDI:
        NC_000016.10:20924045:T:G
        Gene:
        LYRM1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000016.10:g.20924046T>G, NC_000016.9:g.20935368T>G, NM_020424.5:c.299T>G, NM_020424.4:c.299T>G, NM_020424.3:c.299T>G, NM_001128301.3:c.299T>G, NM_001128301.2:c.299T>G, NM_001128301.1:c.299T>G, XM_011545908.3:c.314T>G, XM_011545908.2:c.314T>G, XM_011545908.1:c.314T>G, XM_011545901.3:c.314T>G, XM_011545901.2:c.314T>G, XM_011545901.1:c.314T>G, NM_001128302.3:c.299T>G, NM_001128302.2:c.299T>G, NM_001128302.1:c.299T>G, XM_011545900.3:c.314T>G, XM_011545900.2:c.314T>G, XM_011545900.1:c.314T>G, XM_017023475.2:c.692T>G, XM_017023475.1:c.929T>G, NM_001302835.2:c.299T>G, NM_001302835.1:c.299T>G, XM_017023476.2:c.584T>G, XM_017023476.1:c.821T>G, NM_001302836.2:c.299T>G, NM_001302836.1:c.299T>G, XM_017023478.2:c.314T>G, XM_017023478.1:c.314T>G, NR_126528.2:n.495T>G, NR_126528.1:n.610T>G, NR_126516.2:n.491T>G, NR_126516.1:n.596T>G, NR_126520.2:n.263T>G, NR_126520.1:n.378T>G, NR_126521.2:n.259T>G, NR_126521.1:n.364T>G, NR_126527.2:n.223T>G, NR_126527.1:n.192T>G, XM_047434375.1:c.314T>G, XM_047434376.1:c.314T>G, XM_047434379.1:c.314T>G, XM_047434373.1:c.314T>G, XM_047434380.1:c.299T>G, XM_047434378.1:c.314T>G, XM_047434371.1:c.677T>G, NM_001369642.1:c.299T>G, XM_047434372.1:c.314T>G, NM_001369645.1:c.299T>G, NM_001369631.1:c.314T>G, XM_047434374.1:c.314T>G, NM_001369633.1:c.299T>G, NM_001369638.1:c.299T>G, NM_001369639.1:c.299T>G, NR_161432.1:n.573T>G, XM_047434377.1:c.314T>G, NR_161429.1:n.506T>G, NM_001369634.1:c.299T>G, NM_001369644.1:c.299T>G, NM_001369636.1:c.299T>G, NR_161426.1:n.485T>G, NR_161431.1:n.455T>G, NM_001369641.1:c.299T>G, NM_001369632.1:c.299T>G, NM_001369637.1:c.299T>G, NR_161430.1:n.329T>G, NM_001369635.1:c.299T>G, NR_161425.1:n.259T>G, NR_161427.1:n.248T>G, NP_065157.1:p.Leu100Arg, NP_001121773.1:p.Leu100Arg, XP_011544210.1:p.Leu105Arg, XP_011544203.1:p.Leu105Arg, NP_001121774.1:p.Leu100Arg, XP_011544202.1:p.Leu105Arg, XP_016878964.2:p.Leu231Arg, NP_001289764.1:p.Leu100Arg, XP_016878965.2:p.Leu195Arg, NP_001289765.1:p.Leu100Arg, XP_016878967.1:p.Leu105Arg, XP_047290331.1:p.Leu105Arg, XP_047290332.1:p.Leu105Arg, XP_047290335.1:p.Leu105Arg, XP_047290329.1:p.Leu105Arg, XP_047290336.1:p.Leu100Arg, XP_047290334.1:p.Leu105Arg, XP_047290327.1:p.Leu226Arg, NP_001356571.1:p.Leu100Arg, XP_047290328.1:p.Leu105Arg, NP_001356574.1:p.Leu100Arg, NP_001356560.1:p.Leu105Arg, XP_047290330.1:p.Leu105Arg, NP_001356562.1:p.Leu100Arg, NP_001356567.1:p.Leu100Arg, NP_001356568.1:p.Leu100Arg, XP_047290333.1:p.Leu105Arg, NP_001356563.1:p.Leu100Arg, NP_001356573.1:p.Leu100Arg, NP_001356565.1:p.Leu100Arg, NP_001356570.1:p.Leu100Arg, NP_001356561.1:p.Leu100Arg, NP_001356566.1:p.Leu100Arg, NP_001356564.1:p.Leu100Arg

        4.

        rs1473590349 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          16:20924055 (GRCh38)
          16:20935377 (GRCh37)
          Canonical SPDI:
          NC_000016.10:20924054:A:C
          Gene:
          LYRM1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000016.10:g.20924055A>C, NC_000016.9:g.20935377A>C, NM_020424.5:c.308A>C, NM_020424.4:c.308A>C, NM_020424.3:c.308A>C, NM_001128301.3:c.308A>C, NM_001128301.2:c.308A>C, NM_001128301.1:c.308A>C, XM_011545908.3:c.323A>C, XM_011545908.2:c.323A>C, XM_011545908.1:c.323A>C, XM_011545901.3:c.323A>C, XM_011545901.2:c.323A>C, XM_011545901.1:c.323A>C, NM_001128302.3:c.308A>C, NM_001128302.2:c.308A>C, NM_001128302.1:c.308A>C, XM_011545900.3:c.323A>C, XM_011545900.2:c.323A>C, XM_011545900.1:c.323A>C, XM_017023475.2:c.701A>C, XM_017023475.1:c.938A>C, NM_001302835.2:c.308A>C, NM_001302835.1:c.308A>C, XM_017023476.2:c.593A>C, XM_017023476.1:c.830A>C, NM_001302836.2:c.308A>C, NM_001302836.1:c.308A>C, XM_017023478.2:c.323A>C, XM_017023478.1:c.323A>C, NR_126528.2:n.504A>C, NR_126528.1:n.619A>C, NR_126516.2:n.500A>C, NR_126516.1:n.605A>C, NR_126520.2:n.272A>C, NR_126520.1:n.387A>C, NR_126521.2:n.268A>C, NR_126521.1:n.373A>C, NR_126527.2:n.232A>C, NR_126527.1:n.201A>C, XM_047434375.1:c.323A>C, XM_047434376.1:c.323A>C, XM_047434379.1:c.323A>C, XM_047434373.1:c.323A>C, XM_047434380.1:c.308A>C, XM_047434378.1:c.323A>C, XM_047434371.1:c.686A>C, NM_001369642.1:c.308A>C, XM_047434372.1:c.323A>C, NM_001369645.1:c.308A>C, NM_001369631.1:c.323A>C, XM_047434374.1:c.323A>C, NM_001369633.1:c.308A>C, NM_001369638.1:c.308A>C, NM_001369639.1:c.308A>C, NR_161432.1:n.582A>C, XM_047434377.1:c.323A>C, NR_161429.1:n.515A>C, NM_001369634.1:c.308A>C, NM_001369644.1:c.308A>C, NM_001369636.1:c.308A>C, NR_161426.1:n.494A>C, NR_161431.1:n.464A>C, NM_001369641.1:c.308A>C, NM_001369632.1:c.308A>C, NM_001369637.1:c.308A>C, NR_161430.1:n.338A>C, NM_001369635.1:c.308A>C, NR_161425.1:n.268A>C, NR_161427.1:n.257A>C, NP_065157.1:p.Gln103Pro, NP_001121773.1:p.Gln103Pro, XP_011544210.1:p.Gln108Pro, XP_011544203.1:p.Gln108Pro, NP_001121774.1:p.Gln103Pro, XP_011544202.1:p.Gln108Pro, XP_016878964.2:p.Gln234Pro, NP_001289764.1:p.Gln103Pro, XP_016878965.2:p.Gln198Pro, NP_001289765.1:p.Gln103Pro, XP_016878967.1:p.Gln108Pro, XP_047290331.1:p.Gln108Pro, XP_047290332.1:p.Gln108Pro, XP_047290335.1:p.Gln108Pro, XP_047290329.1:p.Gln108Pro, XP_047290336.1:p.Gln103Pro, XP_047290334.1:p.Gln108Pro, XP_047290327.1:p.Gln229Pro, NP_001356571.1:p.Gln103Pro, XP_047290328.1:p.Gln108Pro, NP_001356574.1:p.Gln103Pro, NP_001356560.1:p.Gln108Pro, XP_047290330.1:p.Gln108Pro, NP_001356562.1:p.Gln103Pro, NP_001356567.1:p.Gln103Pro, NP_001356568.1:p.Gln103Pro, XP_047290333.1:p.Gln108Pro, NP_001356563.1:p.Gln103Pro, NP_001356573.1:p.Gln103Pro, NP_001356565.1:p.Gln103Pro, NP_001356570.1:p.Gln103Pro, NP_001356561.1:p.Gln103Pro, NP_001356566.1:p.Gln103Pro, NP_001356564.1:p.Gln103Pro

          5.

          rs1469510746 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            16:20924054 (GRCh38)
            16:20935376 (GRCh37)
            Canonical SPDI:
            NC_000016.10:20924053:C:A
            Gene:
            LYRM1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000047/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.20924054C>A, NC_000016.9:g.20935376C>A, NM_020424.5:c.307C>A, NM_020424.4:c.307C>A, NM_020424.3:c.307C>A, NM_001128301.3:c.307C>A, NM_001128301.2:c.307C>A, NM_001128301.1:c.307C>A, XM_011545908.3:c.322C>A, XM_011545908.2:c.322C>A, XM_011545908.1:c.322C>A, XM_011545901.3:c.322C>A, XM_011545901.2:c.322C>A, XM_011545901.1:c.322C>A, NM_001128302.3:c.307C>A, NM_001128302.2:c.307C>A, NM_001128302.1:c.307C>A, XM_011545900.3:c.322C>A, XM_011545900.2:c.322C>A, XM_011545900.1:c.322C>A, XM_017023475.2:c.700C>A, XM_017023475.1:c.937C>A, NM_001302835.2:c.307C>A, NM_001302835.1:c.307C>A, XM_017023476.2:c.592C>A, XM_017023476.1:c.829C>A, NM_001302836.2:c.307C>A, NM_001302836.1:c.307C>A, XM_017023478.2:c.322C>A, XM_017023478.1:c.322C>A, NR_126528.2:n.503C>A, NR_126528.1:n.618C>A, NR_126516.2:n.499C>A, NR_126516.1:n.604C>A, NR_126520.2:n.271C>A, NR_126520.1:n.386C>A, NR_126521.2:n.267C>A, NR_126521.1:n.372C>A, NR_126527.2:n.231C>A, NR_126527.1:n.200C>A, XM_047434375.1:c.322C>A, XM_047434376.1:c.322C>A, XM_047434379.1:c.322C>A, XM_047434373.1:c.322C>A, XM_047434380.1:c.307C>A, XM_047434378.1:c.322C>A, XM_047434371.1:c.685C>A, NM_001369642.1:c.307C>A, XM_047434372.1:c.322C>A, NM_001369645.1:c.307C>A, NM_001369631.1:c.322C>A, XM_047434374.1:c.322C>A, NM_001369633.1:c.307C>A, NM_001369638.1:c.307C>A, NM_001369639.1:c.307C>A, NR_161432.1:n.581C>A, XM_047434377.1:c.322C>A, NR_161429.1:n.514C>A, NM_001369634.1:c.307C>A, NM_001369644.1:c.307C>A, NM_001369636.1:c.307C>A, NR_161426.1:n.493C>A, NR_161431.1:n.463C>A, NM_001369641.1:c.307C>A, NM_001369632.1:c.307C>A, NM_001369637.1:c.307C>A, NR_161430.1:n.337C>A, NM_001369635.1:c.307C>A, NR_161425.1:n.267C>A, NR_161427.1:n.256C>A, NP_065157.1:p.Gln103Lys, NP_001121773.1:p.Gln103Lys, XP_011544210.1:p.Gln108Lys, XP_011544203.1:p.Gln108Lys, NP_001121774.1:p.Gln103Lys, XP_011544202.1:p.Gln108Lys, XP_016878964.2:p.Gln234Lys, NP_001289764.1:p.Gln103Lys, XP_016878965.2:p.Gln198Lys, NP_001289765.1:p.Gln103Lys, XP_016878967.1:p.Gln108Lys, XP_047290331.1:p.Gln108Lys, XP_047290332.1:p.Gln108Lys, XP_047290335.1:p.Gln108Lys, XP_047290329.1:p.Gln108Lys, XP_047290336.1:p.Gln103Lys, XP_047290334.1:p.Gln108Lys, XP_047290327.1:p.Gln229Lys, NP_001356571.1:p.Gln103Lys, XP_047290328.1:p.Gln108Lys, NP_001356574.1:p.Gln103Lys, NP_001356560.1:p.Gln108Lys, XP_047290330.1:p.Gln108Lys, NP_001356562.1:p.Gln103Lys, NP_001356567.1:p.Gln103Lys, NP_001356568.1:p.Gln103Lys, XP_047290333.1:p.Gln108Lys, NP_001356563.1:p.Gln103Lys, NP_001356573.1:p.Gln103Lys, NP_001356565.1:p.Gln103Lys, NP_001356570.1:p.Gln103Lys, NP_001356561.1:p.Gln103Lys, NP_001356566.1:p.Gln103Lys, NP_001356564.1:p.Gln103Lys

            6.

            rs1457467652 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TAC>- [Show Flanks]
              Chromosome:
              16:20920191 (GRCh38)
              16:20931513 (GRCh37)
              Canonical SPDI:
              NC_000016.10:20920190:TAC:
              Gene:
              LYRM1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.000224/1 (ALFA)
              -=0.000007/1 (GnomAD)
              -=0.000223/1 (Estonian)
              HGVS:
              NC_000016.10:g.20920191_20920193del, NC_000016.9:g.20931513_20931515del, NM_020424.5:c.229_231del, NM_020424.4:c.229_231del, NM_020424.3:c.229_231del, NM_001128301.3:c.229_231del, NM_001128301.2:c.229_231del, NM_001128301.1:c.229_231del, XM_011545908.3:c.244_246del, XM_011545908.2:c.244_246del, XM_011545908.1:c.244_246del, XM_011545901.3:c.244_246del, XM_011545901.2:c.244_246del, XM_011545901.1:c.244_246del, NM_001128302.3:c.229_231del, NM_001128302.2:c.229_231del, NM_001128302.1:c.229_231del, XM_011545900.3:c.244_246del, XM_011545900.2:c.244_246del, XM_011545900.1:c.244_246del, XM_017023475.2:c.622_624del, XM_017023475.1:c.859_861del, NM_001302835.2:c.229_231del, NM_001302835.1:c.229_231del, NM_001302836.2:c.229_231del, NM_001302836.1:c.229_231del, XM_017023478.2:c.244_246del, XM_017023478.1:c.244_246del, NR_126528.2:n.425_427del, NR_126528.1:n.540_542del, NR_126516.2:n.421_423del, NR_126516.1:n.526_528del, NR_126520.2:n.193_195del, NR_126520.1:n.308_310del, NR_126521.2:n.189_191del, NR_126521.1:n.294_296del, NR_126527.2:n.153_155del, NR_126527.1:n.122_124del, XM_047434375.1:c.244_246del, XM_047434376.1:c.244_246del, XM_047434379.1:c.244_246del, XM_047434373.1:c.244_246del, XM_047434380.1:c.229_231del, XM_047434378.1:c.244_246del, XM_047434371.1:c.607_609del, NM_001369642.1:c.229_231del, XM_047434372.1:c.244_246del, NM_001369645.1:c.229_231del, NM_001369631.1:c.244_246del, XM_047434374.1:c.244_246del, NM_001369633.1:c.229_231del, NM_001369638.1:c.229_231del, NM_001369639.1:c.229_231del, NR_161432.1:n.503_505del, XM_047434377.1:c.244_246del, NR_161429.1:n.436_438del, NM_001369634.1:c.229_231del, NM_001369644.1:c.229_231del, NM_001369636.1:c.229_231del, NR_161426.1:n.415_417del, NR_161431.1:n.385_387del, NM_001369641.1:c.229_231del, NM_001369632.1:c.229_231del, NM_001369637.1:c.229_231del, NM_001369635.1:c.229_231del, NR_161425.1:n.193_195del, NP_065157.1:p.Tyr77del, NP_001121773.1:p.Tyr77del, XP_011544210.1:p.Tyr82del, XP_011544203.1:p.Tyr82del, NP_001121774.1:p.Tyr77del, XP_011544202.1:p.Tyr82del, XP_016878964.2:p.Tyr208del, NP_001289764.1:p.Tyr77del, NP_001289765.1:p.Tyr77del, XP_016878967.1:p.Tyr82del, XP_047290331.1:p.Tyr82del, XP_047290332.1:p.Tyr82del, XP_047290335.1:p.Tyr82del, XP_047290329.1:p.Tyr82del, XP_047290336.1:p.Tyr77del, XP_047290334.1:p.Tyr82del, XP_047290327.1:p.Tyr203del, NP_001356571.1:p.Tyr77del, XP_047290328.1:p.Tyr82del, NP_001356574.1:p.Tyr77del, NP_001356560.1:p.Tyr82del, XP_047290330.1:p.Tyr82del, NP_001356562.1:p.Tyr77del, NP_001356567.1:p.Tyr77del, NP_001356568.1:p.Tyr77del, XP_047290333.1:p.Tyr82del, NP_001356563.1:p.Tyr77del, NP_001356573.1:p.Tyr77del, NP_001356565.1:p.Tyr77del, NP_001356570.1:p.Tyr77del, NP_001356561.1:p.Tyr77del, NP_001356566.1:p.Tyr77del, NP_001356564.1:p.Tyr77del

              7.

              rs1446568119 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:20920167 (GRCh38)
                16:20931489 (GRCh37)
                Canonical SPDI:
                NC_000016.10:20920166:G:A
                Gene:
                LYRM1 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000008/2 (GnomAD_exomes)
                A=0.000023/6 (TOPMED)
                A=0.000043/6 (GnomAD)
                HGVS:
                NC_000016.10:g.20920167G>A, NC_000016.9:g.20931489G>A, NM_020424.5:c.205G>A, NM_020424.4:c.205G>A, NM_020424.3:c.205G>A, NM_001128301.3:c.205G>A, NM_001128301.2:c.205G>A, NM_001128301.1:c.205G>A, XM_011545908.3:c.220G>A, XM_011545908.2:c.220G>A, XM_011545908.1:c.220G>A, XM_011545901.3:c.220G>A, XM_011545901.2:c.220G>A, XM_011545901.1:c.220G>A, NM_001128302.3:c.205G>A, NM_001128302.2:c.205G>A, NM_001128302.1:c.205G>A, XM_011545900.3:c.220G>A, XM_011545900.2:c.220G>A, XM_011545900.1:c.220G>A, XM_017023475.2:c.598G>A, XM_017023475.1:c.835G>A, NM_001302835.2:c.205G>A, NM_001302835.1:c.205G>A, NM_001302836.2:c.205G>A, NM_001302836.1:c.205G>A, XM_017023478.2:c.220G>A, XM_017023478.1:c.220G>A, NR_126528.2:n.401G>A, NR_126528.1:n.516G>A, NR_126516.2:n.397G>A, NR_126516.1:n.502G>A, NR_126520.2:n.169G>A, NR_126520.1:n.284G>A, NR_126521.2:n.165G>A, NR_126521.1:n.270G>A, NR_126527.2:n.129G>A, NR_126527.1:n.98G>A, XM_047434375.1:c.220G>A, XM_047434376.1:c.220G>A, XM_047434379.1:c.220G>A, XM_047434373.1:c.220G>A, XM_047434380.1:c.205G>A, XM_047434378.1:c.220G>A, XM_047434371.1:c.583G>A, NM_001369642.1:c.205G>A, XM_047434372.1:c.220G>A, NM_001369645.1:c.205G>A, NM_001369631.1:c.220G>A, XM_047434374.1:c.220G>A, NM_001369633.1:c.205G>A, NM_001369638.1:c.205G>A, NM_001369639.1:c.205G>A, NR_161432.1:n.479G>A, XM_047434377.1:c.220G>A, NR_161429.1:n.412G>A, NM_001369634.1:c.205G>A, NM_001369644.1:c.205G>A, NM_001369636.1:c.205G>A, NR_161426.1:n.391G>A, NR_161431.1:n.361G>A, NM_001369641.1:c.205G>A, NM_001369632.1:c.205G>A, NM_001369637.1:c.205G>A, NM_001369635.1:c.205G>A, NR_161425.1:n.169G>A, NP_065157.1:p.Ala69Thr, NP_001121773.1:p.Ala69Thr, XP_011544210.1:p.Ala74Thr, XP_011544203.1:p.Ala74Thr, NP_001121774.1:p.Ala69Thr, XP_011544202.1:p.Ala74Thr, XP_016878964.2:p.Ala200Thr, NP_001289764.1:p.Ala69Thr, NP_001289765.1:p.Ala69Thr, XP_016878967.1:p.Ala74Thr, XP_047290331.1:p.Ala74Thr, XP_047290332.1:p.Ala74Thr, XP_047290335.1:p.Ala74Thr, XP_047290329.1:p.Ala74Thr, XP_047290336.1:p.Ala69Thr, XP_047290334.1:p.Ala74Thr, XP_047290327.1:p.Ala195Thr, NP_001356571.1:p.Ala69Thr, XP_047290328.1:p.Ala74Thr, NP_001356574.1:p.Ala69Thr, NP_001356560.1:p.Ala74Thr, XP_047290330.1:p.Ala74Thr, NP_001356562.1:p.Ala69Thr, NP_001356567.1:p.Ala69Thr, NP_001356568.1:p.Ala69Thr, XP_047290333.1:p.Ala74Thr, NP_001356563.1:p.Ala69Thr, NP_001356573.1:p.Ala69Thr, NP_001356565.1:p.Ala69Thr, NP_001356570.1:p.Ala69Thr, NP_001356561.1:p.Ala69Thr, NP_001356566.1:p.Ala69Thr, NP_001356564.1:p.Ala69Thr

                8.

                rs1413670795 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GGACTGC>- [Show Flanks]
                  Chromosome:
                  16:20920182 (GRCh38)
                  16:20931504 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:20920181:GGACTGC:
                  Gene:
                  LYRM1 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.000224/1 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000223/1 (Estonian)
                  HGVS:
                  NC_000016.10:g.20920182_20920188del, NC_000016.9:g.20931504_20931510del, NM_020424.5:c.220_226del, NM_020424.4:c.220_226del, NM_020424.3:c.220_226del, NM_001128301.3:c.220_226del, NM_001128301.2:c.220_226del, NM_001128301.1:c.220_226del, XM_011545908.3:c.235_241del, XM_011545908.2:c.235_241del, XM_011545908.1:c.235_241del, XM_011545901.3:c.235_241del, XM_011545901.2:c.235_241del, XM_011545901.1:c.235_241del, NM_001128302.3:c.220_226del, NM_001128302.2:c.220_226del, NM_001128302.1:c.220_226del, XM_011545900.3:c.235_241del, XM_011545900.2:c.235_241del, XM_011545900.1:c.235_241del, XM_017023475.2:c.613_619del, XM_017023475.1:c.850_856del, NM_001302835.2:c.220_226del, NM_001302835.1:c.220_226del, NM_001302836.2:c.220_226del, NM_001302836.1:c.220_226del, XM_017023478.2:c.235_241del, XM_017023478.1:c.235_241del, NR_126528.2:n.416_422del, NR_126528.1:n.531_537del, NR_126516.2:n.412_418del, NR_126516.1:n.517_523del, NR_126520.2:n.184_190del, NR_126520.1:n.299_305del, NR_126521.2:n.180_186del, NR_126521.1:n.285_291del, NR_126527.2:n.144_150del, NR_126527.1:n.113_119del, XM_047434375.1:c.235_241del, XM_047434376.1:c.235_241del, XM_047434379.1:c.235_241del, XM_047434373.1:c.235_241del, XM_047434380.1:c.220_226del, XM_047434378.1:c.235_241del, XM_047434371.1:c.598_604del, NM_001369642.1:c.220_226del, XM_047434372.1:c.235_241del, NM_001369645.1:c.220_226del, NM_001369631.1:c.235_241del, XM_047434374.1:c.235_241del, NM_001369633.1:c.220_226del, NM_001369638.1:c.220_226del, NM_001369639.1:c.220_226del, NR_161432.1:n.494_500del, XM_047434377.1:c.235_241del, NR_161429.1:n.427_433del, NM_001369634.1:c.220_226del, NM_001369644.1:c.220_226del, NM_001369636.1:c.220_226del, NR_161426.1:n.406_412del, NR_161431.1:n.376_382del, NM_001369641.1:c.220_226del, NM_001369632.1:c.220_226del, NM_001369637.1:c.220_226del, NM_001369635.1:c.220_226del, NR_161425.1:n.184_190del, NP_065157.1:p.Gly74fs, NP_001121773.1:p.Gly74fs, XP_011544210.1:p.Gly79fs, XP_011544203.1:p.Gly79fs, NP_001121774.1:p.Gly74fs, XP_011544202.1:p.Gly79fs, XP_016878964.2:p.Gly205fs, NP_001289764.1:p.Gly74fs, NP_001289765.1:p.Gly74fs, XP_016878967.1:p.Gly79fs, XP_047290331.1:p.Gly79fs, XP_047290332.1:p.Gly79fs, XP_047290335.1:p.Gly79fs, XP_047290329.1:p.Gly79fs, XP_047290336.1:p.Gly74fs, XP_047290334.1:p.Gly79fs, XP_047290327.1:p.Gly200fs, NP_001356571.1:p.Gly74fs, XP_047290328.1:p.Gly79fs, NP_001356574.1:p.Gly74fs, NP_001356560.1:p.Gly79fs, XP_047290330.1:p.Gly79fs, NP_001356562.1:p.Gly74fs, NP_001356567.1:p.Gly74fs, NP_001356568.1:p.Gly74fs, XP_047290333.1:p.Gly79fs, NP_001356563.1:p.Gly74fs, NP_001356573.1:p.Gly74fs, NP_001356565.1:p.Gly74fs, NP_001356570.1:p.Gly74fs, NP_001356561.1:p.Gly74fs, NP_001356566.1:p.Gly74fs, NP_001356564.1:p.Gly74fs

                  9.

                  rs1406124874 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:20915620 (GRCh38)
                    16:20926942 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:20915619:A:G
                    Gene:
                    LYRM1 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000031/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.20915620A>G, NC_000016.9:g.20926942A>G, NM_020424.5:c.65A>G, NM_020424.4:c.65A>G, NM_020424.3:c.65A>G, NM_001128301.3:c.65A>G, NM_001128301.2:c.65A>G, NM_001128301.1:c.65A>G, XM_011545908.3:c.65A>G, XM_011545908.2:c.65A>G, XM_011545908.1:c.65A>G, XM_011545901.3:c.65A>G, XM_011545901.2:c.65A>G, XM_011545901.1:c.65A>G, NM_001128302.3:c.65A>G, NM_001128302.2:c.65A>G, NM_001128302.1:c.65A>G, XM_011545900.3:c.65A>G, XM_011545900.2:c.65A>G, XM_011545900.1:c.65A>G, XM_017023475.2:c.443A>G, XM_017023475.1:c.680A>G, NM_001302835.2:c.65A>G, NM_001302835.1:c.65A>G, XM_017023476.2:c.443A>G, XM_017023476.1:c.680A>G, NM_001302836.2:c.65A>G, NM_001302836.1:c.65A>G, XM_017023478.2:c.65A>G, XM_017023478.1:c.65A>G, XM_047434375.1:c.65A>G, XM_047434376.1:c.65A>G, XM_047434379.1:c.65A>G, XM_047434373.1:c.65A>G, XM_047434380.1:c.65A>G, XM_047434378.1:c.65A>G, XM_047434371.1:c.443A>G, NM_001369642.1:c.65A>G, XM_047434372.1:c.65A>G, NM_001369645.1:c.65A>G, NM_001369631.1:c.65A>G, XM_047434374.1:c.65A>G, NM_001369633.1:c.65A>G, NM_001369638.1:c.65A>G, NM_001369639.1:c.65A>G, XM_047434377.1:c.65A>G, NM_001369634.1:c.65A>G, NM_001369644.1:c.65A>G, NM_001369636.1:c.65A>G, NM_001369641.1:c.65A>G, NM_001369632.1:c.65A>G, NM_001369637.1:c.65A>G, NR_161430.1:n.188A>G, NM_001369635.1:c.65A>G, NP_065157.1:p.Lys22Arg, NP_001121773.1:p.Lys22Arg, XP_011544210.1:p.Lys22Arg, XP_011544203.1:p.Lys22Arg, NP_001121774.1:p.Lys22Arg, XP_011544202.1:p.Lys22Arg, XP_016878964.2:p.Lys148Arg, NP_001289764.1:p.Lys22Arg, XP_016878965.2:p.Lys148Arg, NP_001289765.1:p.Lys22Arg, XP_016878967.1:p.Lys22Arg, XP_047290331.1:p.Lys22Arg, XP_047290332.1:p.Lys22Arg, XP_047290335.1:p.Lys22Arg, XP_047290329.1:p.Lys22Arg, XP_047290336.1:p.Lys22Arg, XP_047290334.1:p.Lys22Arg, XP_047290327.1:p.Lys148Arg, NP_001356571.1:p.Lys22Arg, XP_047290328.1:p.Lys22Arg, NP_001356574.1:p.Lys22Arg, NP_001356560.1:p.Lys22Arg, XP_047290330.1:p.Lys22Arg, NP_001356562.1:p.Lys22Arg, NP_001356567.1:p.Lys22Arg, NP_001356568.1:p.Lys22Arg, XP_047290333.1:p.Lys22Arg, NP_001356563.1:p.Lys22Arg, NP_001356573.1:p.Lys22Arg, NP_001356565.1:p.Lys22Arg, NP_001356570.1:p.Lys22Arg, NP_001356561.1:p.Lys22Arg, NP_001356566.1:p.Lys22Arg, NP_001356564.1:p.Lys22Arg

                    10.

                    rs1405551610 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:20915603 (GRCh38)
                      16:20926925 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:20915602:T:C
                      Gene:
                      LYRM1 (Varview)
                      Functional Consequence:
                      synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.20915603T>C, NC_000016.9:g.20926925T>C, NM_020424.5:c.48T>C, NM_020424.4:c.48T>C, NM_020424.3:c.48T>C, NM_001128301.3:c.48T>C, NM_001128301.2:c.48T>C, NM_001128301.1:c.48T>C, XM_011545908.3:c.48T>C, XM_011545908.2:c.48T>C, XM_011545908.1:c.48T>C, XM_011545901.3:c.48T>C, XM_011545901.2:c.48T>C, XM_011545901.1:c.48T>C, NM_001128302.3:c.48T>C, NM_001128302.2:c.48T>C, NM_001128302.1:c.48T>C, XM_011545900.3:c.48T>C, XM_011545900.2:c.48T>C, XM_011545900.1:c.48T>C, XM_017023475.2:c.426T>C, XM_017023475.1:c.663T>C, NM_001302835.2:c.48T>C, NM_001302835.1:c.48T>C, XM_017023476.2:c.426T>C, XM_017023476.1:c.663T>C, NM_001302836.2:c.48T>C, NM_001302836.1:c.48T>C, XM_017023478.2:c.48T>C, XM_017023478.1:c.48T>C, XM_047434375.1:c.48T>C, XM_047434376.1:c.48T>C, XM_047434379.1:c.48T>C, XM_047434373.1:c.48T>C, XM_047434380.1:c.48T>C, XM_047434378.1:c.48T>C, XM_047434371.1:c.426T>C, NM_001369642.1:c.48T>C, XM_047434372.1:c.48T>C, NM_001369645.1:c.48T>C, NM_001369631.1:c.48T>C, XM_047434374.1:c.48T>C, NM_001369633.1:c.48T>C, NM_001369638.1:c.48T>C, NM_001369639.1:c.48T>C, XM_047434377.1:c.48T>C, NM_001369634.1:c.48T>C, NM_001369644.1:c.48T>C, NM_001369636.1:c.48T>C, NM_001369641.1:c.48T>C, NM_001369632.1:c.48T>C, NM_001369637.1:c.48T>C, NR_161430.1:n.171T>C, NM_001369635.1:c.48T>C

                      11.

                      rs1404162025 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        16:20924006 (GRCh38)
                        16:20935328 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:20924005:C:G
                        Gene:
                        LYRM1 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000016.10:g.20924006C>G, NC_000016.9:g.20935328C>G, NM_020424.5:c.259C>G, NM_020424.4:c.259C>G, NM_020424.3:c.259C>G, NM_001128301.3:c.259C>G, NM_001128301.2:c.259C>G, NM_001128301.1:c.259C>G, XM_011545908.3:c.274C>G, XM_011545908.2:c.274C>G, XM_011545908.1:c.274C>G, XM_011545901.3:c.274C>G, XM_011545901.2:c.274C>G, XM_011545901.1:c.274C>G, NM_001128302.3:c.259C>G, NM_001128302.2:c.259C>G, NM_001128302.1:c.259C>G, XM_011545900.3:c.274C>G, XM_011545900.2:c.274C>G, XM_011545900.1:c.274C>G, XM_017023475.2:c.652C>G, XM_017023475.1:c.889C>G, NM_001302835.2:c.259C>G, NM_001302835.1:c.259C>G, XM_017023476.2:c.544C>G, XM_017023476.1:c.781C>G, NM_001302836.2:c.259C>G, NM_001302836.1:c.259C>G, XM_017023478.2:c.274C>G, XM_017023478.1:c.274C>G, NR_126528.2:n.455C>G, NR_126528.1:n.570C>G, NR_126516.2:n.451C>G, NR_126516.1:n.556C>G, NR_126520.2:n.223C>G, NR_126520.1:n.338C>G, NR_126521.2:n.219C>G, NR_126521.1:n.324C>G, NR_126527.2:n.183C>G, NR_126527.1:n.152C>G, XM_047434375.1:c.274C>G, XM_047434376.1:c.274C>G, XM_047434379.1:c.274C>G, XM_047434373.1:c.274C>G, XM_047434380.1:c.259C>G, XM_047434378.1:c.274C>G, XM_047434371.1:c.637C>G, NM_001369642.1:c.259C>G, XM_047434372.1:c.274C>G, NM_001369645.1:c.259C>G, NM_001369631.1:c.274C>G, XM_047434374.1:c.274C>G, NM_001369633.1:c.259C>G, NM_001369638.1:c.259C>G, NM_001369639.1:c.259C>G, NR_161432.1:n.533C>G, XM_047434377.1:c.274C>G, NR_161429.1:n.466C>G, NM_001369634.1:c.259C>G, NM_001369644.1:c.259C>G, NM_001369636.1:c.259C>G, NR_161426.1:n.445C>G, NR_161431.1:n.415C>G, NM_001369641.1:c.259C>G, NM_001369632.1:c.259C>G, NM_001369637.1:c.259C>G, NR_161430.1:n.289C>G, NM_001369635.1:c.259C>G, NR_161425.1:n.219C>G, NR_161427.1:n.208C>G, NP_065157.1:p.Leu87Val, NP_001121773.1:p.Leu87Val, XP_011544210.1:p.Leu92Val, XP_011544203.1:p.Leu92Val, NP_001121774.1:p.Leu87Val, XP_011544202.1:p.Leu92Val, XP_016878964.2:p.Leu218Val, NP_001289764.1:p.Leu87Val, XP_016878965.2:p.Leu182Val, NP_001289765.1:p.Leu87Val, XP_016878967.1:p.Leu92Val, XP_047290331.1:p.Leu92Val, XP_047290332.1:p.Leu92Val, XP_047290335.1:p.Leu92Val, XP_047290329.1:p.Leu92Val, XP_047290336.1:p.Leu87Val, XP_047290334.1:p.Leu92Val, XP_047290327.1:p.Leu213Val, NP_001356571.1:p.Leu87Val, XP_047290328.1:p.Leu92Val, NP_001356574.1:p.Leu87Val, NP_001356560.1:p.Leu92Val, XP_047290330.1:p.Leu92Val, NP_001356562.1:p.Leu87Val, NP_001356567.1:p.Leu87Val, NP_001356568.1:p.Leu87Val, XP_047290333.1:p.Leu92Val, NP_001356563.1:p.Leu87Val, NP_001356573.1:p.Leu87Val, NP_001356565.1:p.Leu87Val, NP_001356570.1:p.Leu87Val, NP_001356561.1:p.Leu87Val, NP_001356566.1:p.Leu87Val, NP_001356564.1:p.Leu87Val

                        12.

                        rs1385907026 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          16:20915560 (GRCh38)
                          16:20926882 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:20915559:C:A
                          Gene:
                          LYRM1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000016.10:g.20915560C>A, NC_000016.9:g.20926882C>A, NM_020424.5:c.5C>A, NM_020424.4:c.5C>A, NM_020424.3:c.5C>A, NM_001128301.3:c.5C>A, NM_001128301.2:c.5C>A, NM_001128301.1:c.5C>A, XM_011545908.3:c.5C>A, XM_011545908.2:c.5C>A, XM_011545908.1:c.5C>A, XM_011545901.3:c.5C>A, XM_011545901.2:c.5C>A, XM_011545901.1:c.5C>A, NM_001128302.3:c.5C>A, NM_001128302.2:c.5C>A, NM_001128302.1:c.5C>A, XM_011545900.3:c.5C>A, XM_011545900.2:c.5C>A, XM_011545900.1:c.5C>A, XM_017023475.2:c.383C>A, XM_017023475.1:c.620C>A, NM_001302835.2:c.5C>A, NM_001302835.1:c.5C>A, XM_017023476.2:c.383C>A, XM_017023476.1:c.620C>A, NM_001302836.2:c.5C>A, NM_001302836.1:c.5C>A, XM_017023478.2:c.5C>A, XM_017023478.1:c.5C>A, XM_047434375.1:c.5C>A, XM_047434376.1:c.5C>A, XM_047434379.1:c.5C>A, XM_047434373.1:c.5C>A, XM_047434380.1:c.5C>A, XM_047434378.1:c.5C>A, XM_047434371.1:c.383C>A, NM_001369642.1:c.5C>A, XM_047434372.1:c.5C>A, NM_001369645.1:c.5C>A, NM_001369631.1:c.5C>A, XM_047434374.1:c.5C>A, NM_001369633.1:c.5C>A, NM_001369638.1:c.5C>A, NM_001369639.1:c.5C>A, XM_047434377.1:c.5C>A, NM_001369634.1:c.5C>A, NM_001369644.1:c.5C>A, NM_001369636.1:c.5C>A, NM_001369641.1:c.5C>A, NM_001369632.1:c.5C>A, NM_001369637.1:c.5C>A, NR_161430.1:n.128C>A, NM_001369635.1:c.5C>A, NP_065157.1:p.Thr2Lys, NP_001121773.1:p.Thr2Lys, XP_011544210.1:p.Thr2Lys, XP_011544203.1:p.Thr2Lys, NP_001121774.1:p.Thr2Lys, XP_011544202.1:p.Thr2Lys, XP_016878964.2:p.Thr128Lys, NP_001289764.1:p.Thr2Lys, XP_016878965.2:p.Thr128Lys, NP_001289765.1:p.Thr2Lys, XP_016878967.1:p.Thr2Lys, XP_047290331.1:p.Thr2Lys, XP_047290332.1:p.Thr2Lys, XP_047290335.1:p.Thr2Lys, XP_047290329.1:p.Thr2Lys, XP_047290336.1:p.Thr2Lys, XP_047290334.1:p.Thr2Lys, XP_047290327.1:p.Thr128Lys, NP_001356571.1:p.Thr2Lys, XP_047290328.1:p.Thr2Lys, NP_001356574.1:p.Thr2Lys, NP_001356560.1:p.Thr2Lys, XP_047290330.1:p.Thr2Lys, NP_001356562.1:p.Thr2Lys, NP_001356567.1:p.Thr2Lys, NP_001356568.1:p.Thr2Lys, XP_047290333.1:p.Thr2Lys, NP_001356563.1:p.Thr2Lys, NP_001356573.1:p.Thr2Lys, NP_001356565.1:p.Thr2Lys, NP_001356570.1:p.Thr2Lys, NP_001356561.1:p.Thr2Lys, NP_001356566.1:p.Thr2Lys, NP_001356564.1:p.Thr2Lys

                          13.

                          rs1380864714 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:20924114 (GRCh38)
                            16:20935436 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:20924113:T:C
                            Gene:
                            LYRM1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,stop_lost,terminator_codon_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.20924114T>C, NC_000016.9:g.20935436T>C, NM_020424.5:c.367T>C, NM_020424.4:c.367T>C, NM_020424.3:c.367T>C, NM_001128301.3:c.367T>C, NM_001128301.2:c.367T>C, NM_001128301.1:c.367T>C, XM_011545908.3:c.382T>C, XM_011545908.2:c.382T>C, XM_011545908.1:c.382T>C, XM_011545901.3:c.382T>C, XM_011545901.2:c.382T>C, XM_011545901.1:c.382T>C, NM_001128302.3:c.367T>C, NM_001128302.2:c.367T>C, NM_001128302.1:c.367T>C, XM_011545900.3:c.382T>C, XM_011545900.2:c.382T>C, XM_011545900.1:c.382T>C, XM_017023475.2:c.760T>C, XM_017023475.1:c.997T>C, NM_001302835.2:c.367T>C, NM_001302835.1:c.367T>C, XM_017023476.2:c.652T>C, XM_017023476.1:c.889T>C, NM_001302836.2:c.367T>C, NM_001302836.1:c.367T>C, XM_017023478.2:c.382T>C, XM_017023478.1:c.382T>C, NR_126528.2:n.563T>C, NR_126528.1:n.678T>C, NR_126516.2:n.559T>C, NR_126516.1:n.664T>C, NR_126520.2:n.331T>C, NR_126520.1:n.446T>C, NR_126521.2:n.327T>C, NR_126521.1:n.432T>C, NR_126527.2:n.291T>C, NR_126527.1:n.260T>C, XM_047434375.1:c.382T>C, XM_047434376.1:c.382T>C, XM_047434379.1:c.382T>C, XM_047434373.1:c.382T>C, XM_047434380.1:c.367T>C, XM_047434378.1:c.382T>C, XM_047434371.1:c.745T>C, NM_001369642.1:c.367T>C, XM_047434372.1:c.382T>C, NM_001369645.1:c.367T>C, NM_001369631.1:c.382T>C, XM_047434374.1:c.382T>C, NM_001369633.1:c.367T>C, NM_001369638.1:c.367T>C, NM_001369639.1:c.367T>C, NR_161432.1:n.641T>C, XM_047434377.1:c.382T>C, NR_161429.1:n.574T>C, NM_001369634.1:c.367T>C, NM_001369644.1:c.367T>C, NM_001369636.1:c.367T>C, NR_161426.1:n.553T>C, NR_161431.1:n.523T>C, NM_001369641.1:c.367T>C, NM_001369632.1:c.367T>C, NM_001369637.1:c.367T>C, NR_161430.1:n.397T>C, NM_001369635.1:c.367T>C, NR_161425.1:n.327T>C, NR_161427.1:n.316T>C, NP_065157.1:p.Ter123Gln, NP_001121773.1:p.Ter123Gln, XP_011544210.1:p.Ter128Gln, XP_011544203.1:p.Ter128Gln, NP_001121774.1:p.Ter123Gln, XP_011544202.1:p.Ter128Gln, XP_016878964.2:p.Ter254Gln, NP_001289764.1:p.Ter123Gln, XP_016878965.2:p.Ter218Gln, NP_001289765.1:p.Ter123Gln, XP_016878967.1:p.Ter128Gln, XP_047290331.1:p.Ter128Gln, XP_047290332.1:p.Ter128Gln, XP_047290335.1:p.Ter128Gln, XP_047290329.1:p.Ter128Gln, XP_047290336.1:p.Ter123Gln, XP_047290334.1:p.Ter128Gln, XP_047290327.1:p.Ter249Gln, NP_001356571.1:p.Ter123Gln, XP_047290328.1:p.Ter128Gln, NP_001356574.1:p.Ter123Gln, NP_001356560.1:p.Ter128Gln, XP_047290330.1:p.Ter128Gln, NP_001356562.1:p.Ter123Gln, NP_001356567.1:p.Ter123Gln, NP_001356568.1:p.Ter123Gln, XP_047290333.1:p.Ter128Gln, NP_001356563.1:p.Ter123Gln, NP_001356573.1:p.Ter123Gln, NP_001356565.1:p.Ter123Gln, NP_001356570.1:p.Ter123Gln, NP_001356561.1:p.Ter123Gln, NP_001356566.1:p.Ter123Gln, NP_001356564.1:p.Ter123Gln

                            14.

                            rs1380533006 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:20924059 (GRCh38)
                              16:20935381 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:20924058:G:A
                              Gene:
                              LYRM1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000011/3 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              NC_000016.10:g.20924059G>A, NC_000016.9:g.20935381G>A, NM_020424.5:c.312G>A, NM_020424.4:c.312G>A, NM_020424.3:c.312G>A, NM_001128301.3:c.312G>A, NM_001128301.2:c.312G>A, NM_001128301.1:c.312G>A, XM_011545908.3:c.327G>A, XM_011545908.2:c.327G>A, XM_011545908.1:c.327G>A, XM_011545901.3:c.327G>A, XM_011545901.2:c.327G>A, XM_011545901.1:c.327G>A, NM_001128302.3:c.312G>A, NM_001128302.2:c.312G>A, NM_001128302.1:c.312G>A, XM_011545900.3:c.327G>A, XM_011545900.2:c.327G>A, XM_011545900.1:c.327G>A, XM_017023475.2:c.705G>A, XM_017023475.1:c.942G>A, NM_001302835.2:c.312G>A, NM_001302835.1:c.312G>A, XM_017023476.2:c.597G>A, XM_017023476.1:c.834G>A, NM_001302836.2:c.312G>A, NM_001302836.1:c.312G>A, XM_017023478.2:c.327G>A, XM_017023478.1:c.327G>A, NR_126528.2:n.508G>A, NR_126528.1:n.623G>A, NR_126516.2:n.504G>A, NR_126516.1:n.609G>A, NR_126520.2:n.276G>A, NR_126520.1:n.391G>A, NR_126521.2:n.272G>A, NR_126521.1:n.377G>A, NR_126527.2:n.236G>A, NR_126527.1:n.205G>A, XM_047434375.1:c.327G>A, XM_047434376.1:c.327G>A, XM_047434379.1:c.327G>A, XM_047434373.1:c.327G>A, XM_047434380.1:c.312G>A, XM_047434378.1:c.327G>A, XM_047434371.1:c.690G>A, NM_001369642.1:c.312G>A, XM_047434372.1:c.327G>A, NM_001369645.1:c.312G>A, NM_001369631.1:c.327G>A, XM_047434374.1:c.327G>A, NM_001369633.1:c.312G>A, NM_001369638.1:c.312G>A, NM_001369639.1:c.312G>A, NR_161432.1:n.586G>A, XM_047434377.1:c.327G>A, NR_161429.1:n.519G>A, NM_001369634.1:c.312G>A, NM_001369644.1:c.312G>A, NM_001369636.1:c.312G>A, NR_161426.1:n.498G>A, NR_161431.1:n.468G>A, NM_001369641.1:c.312G>A, NM_001369632.1:c.312G>A, NM_001369637.1:c.312G>A, NR_161430.1:n.342G>A, NM_001369635.1:c.312G>A, NR_161425.1:n.272G>A, NR_161427.1:n.261G>A

                              15.

                              rs1359477428 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                16:20915652 (GRCh38)
                                16:20926974 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:20915651:A:G
                                Gene:
                                LYRM1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.20915652A>G, NC_000016.9:g.20926974A>G, NM_020424.5:c.97A>G, NM_020424.4:c.97A>G, NM_020424.3:c.97A>G, NM_001128301.3:c.97A>G, NM_001128301.2:c.97A>G, NM_001128301.1:c.97A>G, XM_011545908.3:c.97A>G, XM_011545908.2:c.97A>G, XM_011545908.1:c.97A>G, XM_011545901.3:c.97A>G, XM_011545901.2:c.97A>G, XM_011545901.1:c.97A>G, NM_001128302.3:c.97A>G, NM_001128302.2:c.97A>G, NM_001128302.1:c.97A>G, XM_011545900.3:c.97A>G, XM_011545900.2:c.97A>G, XM_011545900.1:c.97A>G, XM_017023475.2:c.475A>G, XM_017023475.1:c.712A>G, NM_001302835.2:c.97A>G, NM_001302835.1:c.97A>G, XM_017023476.2:c.475A>G, XM_017023476.1:c.712A>G, NM_001302836.2:c.97A>G, NM_001302836.1:c.97A>G, XM_017023478.2:c.97A>G, XM_017023478.1:c.97A>G, XM_047434375.1:c.97A>G, XM_047434376.1:c.97A>G, XM_047434379.1:c.97A>G, XM_047434373.1:c.97A>G, XM_047434380.1:c.97A>G, XM_047434378.1:c.97A>G, XM_047434371.1:c.475A>G, NM_001369642.1:c.97A>G, XM_047434372.1:c.97A>G, NM_001369645.1:c.97A>G, NM_001369631.1:c.97A>G, XM_047434374.1:c.97A>G, NM_001369633.1:c.97A>G, NM_001369638.1:c.97A>G, NM_001369639.1:c.97A>G, XM_047434377.1:c.97A>G, NM_001369634.1:c.97A>G, NM_001369644.1:c.97A>G, NM_001369636.1:c.97A>G, NM_001369641.1:c.97A>G, NM_001369632.1:c.97A>G, NM_001369637.1:c.97A>G, NR_161430.1:n.220A>G, NM_001369635.1:c.97A>G, NP_065157.1:p.Thr33Ala, NP_001121773.1:p.Thr33Ala, XP_011544210.1:p.Thr33Ala, XP_011544203.1:p.Thr33Ala, NP_001121774.1:p.Thr33Ala, XP_011544202.1:p.Thr33Ala, XP_016878964.2:p.Thr159Ala, NP_001289764.1:p.Thr33Ala, XP_016878965.2:p.Thr159Ala, NP_001289765.1:p.Thr33Ala, XP_016878967.1:p.Thr33Ala, XP_047290331.1:p.Thr33Ala, XP_047290332.1:p.Thr33Ala, XP_047290335.1:p.Thr33Ala, XP_047290329.1:p.Thr33Ala, XP_047290336.1:p.Thr33Ala, XP_047290334.1:p.Thr33Ala, XP_047290327.1:p.Thr159Ala, NP_001356571.1:p.Thr33Ala, XP_047290328.1:p.Thr33Ala, NP_001356574.1:p.Thr33Ala, NP_001356560.1:p.Thr33Ala, XP_047290330.1:p.Thr33Ala, NP_001356562.1:p.Thr33Ala, NP_001356567.1:p.Thr33Ala, NP_001356568.1:p.Thr33Ala, XP_047290333.1:p.Thr33Ala, NP_001356563.1:p.Thr33Ala, NP_001356573.1:p.Thr33Ala, NP_001356565.1:p.Thr33Ala, NP_001356570.1:p.Thr33Ala, NP_001356561.1:p.Thr33Ala, NP_001356566.1:p.Thr33Ala, NP_001356564.1:p.Thr33Ala

                                16.

                                rs1326015738 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  16:20924113 (GRCh38)
                                  16:20935435 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:20924112:C:G
                                  Gene:
                                  LYRM1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.20924113C>G, NC_000016.9:g.20935435C>G, NM_020424.5:c.366C>G, NM_020424.4:c.366C>G, NM_020424.3:c.366C>G, NM_001128301.3:c.366C>G, NM_001128301.2:c.366C>G, NM_001128301.1:c.366C>G, XM_011545908.3:c.381C>G, XM_011545908.2:c.381C>G, XM_011545908.1:c.381C>G, XM_011545901.3:c.381C>G, XM_011545901.2:c.381C>G, XM_011545901.1:c.381C>G, NM_001128302.3:c.366C>G, NM_001128302.2:c.366C>G, NM_001128302.1:c.366C>G, XM_011545900.3:c.381C>G, XM_011545900.2:c.381C>G, XM_011545900.1:c.381C>G, XM_017023475.2:c.759C>G, XM_017023475.1:c.996C>G, NM_001302835.2:c.366C>G, NM_001302835.1:c.366C>G, XM_017023476.2:c.651C>G, XM_017023476.1:c.888C>G, NM_001302836.2:c.366C>G, NM_001302836.1:c.366C>G, XM_017023478.2:c.381C>G, XM_017023478.1:c.381C>G, NR_126528.2:n.562C>G, NR_126528.1:n.677C>G, NR_126516.2:n.558C>G, NR_126516.1:n.663C>G, NR_126520.2:n.330C>G, NR_126520.1:n.445C>G, NR_126521.2:n.326C>G, NR_126521.1:n.431C>G, NR_126527.2:n.290C>G, NR_126527.1:n.259C>G, XM_047434375.1:c.381C>G, XM_047434376.1:c.381C>G, XM_047434379.1:c.381C>G, XM_047434373.1:c.381C>G, XM_047434380.1:c.366C>G, XM_047434378.1:c.381C>G, XM_047434371.1:c.744C>G, NM_001369642.1:c.366C>G, XM_047434372.1:c.381C>G, NM_001369645.1:c.366C>G, NM_001369631.1:c.381C>G, XM_047434374.1:c.381C>G, NM_001369633.1:c.366C>G, NM_001369638.1:c.366C>G, NM_001369639.1:c.366C>G, NR_161432.1:n.640C>G, XM_047434377.1:c.381C>G, NR_161429.1:n.573C>G, NM_001369634.1:c.366C>G, NM_001369644.1:c.366C>G, NM_001369636.1:c.366C>G, NR_161426.1:n.552C>G, NR_161431.1:n.522C>G, NM_001369641.1:c.366C>G, NM_001369632.1:c.366C>G, NM_001369637.1:c.366C>G, NR_161430.1:n.396C>G, NM_001369635.1:c.366C>G, NR_161425.1:n.326C>G, NR_161427.1:n.315C>G

                                  17.

                                  rs1318335067 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    16:20915640 (GRCh38)
                                    16:20926962 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:20915639:C:G
                                    Gene:
                                    LYRM1 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.20915640C>G, NC_000016.9:g.20926962C>G, NM_020424.5:c.85C>G, NM_020424.4:c.85C>G, NM_020424.3:c.85C>G, NM_001128301.3:c.85C>G, NM_001128301.2:c.85C>G, NM_001128301.1:c.85C>G, XM_011545908.3:c.85C>G, XM_011545908.2:c.85C>G, XM_011545908.1:c.85C>G, XM_011545901.3:c.85C>G, XM_011545901.2:c.85C>G, XM_011545901.1:c.85C>G, NM_001128302.3:c.85C>G, NM_001128302.2:c.85C>G, NM_001128302.1:c.85C>G, XM_011545900.3:c.85C>G, XM_011545900.2:c.85C>G, XM_011545900.1:c.85C>G, XM_017023475.2:c.463C>G, XM_017023475.1:c.700C>G, NM_001302835.2:c.85C>G, NM_001302835.1:c.85C>G, XM_017023476.2:c.463C>G, XM_017023476.1:c.700C>G, NM_001302836.2:c.85C>G, NM_001302836.1:c.85C>G, XM_017023478.2:c.85C>G, XM_017023478.1:c.85C>G, XM_047434375.1:c.85C>G, XM_047434376.1:c.85C>G, XM_047434379.1:c.85C>G, XM_047434373.1:c.85C>G, XM_047434380.1:c.85C>G, XM_047434378.1:c.85C>G, XM_047434371.1:c.463C>G, NM_001369642.1:c.85C>G, XM_047434372.1:c.85C>G, NM_001369645.1:c.85C>G, NM_001369631.1:c.85C>G, XM_047434374.1:c.85C>G, NM_001369633.1:c.85C>G, NM_001369638.1:c.85C>G, NM_001369639.1:c.85C>G, XM_047434377.1:c.85C>G, NM_001369634.1:c.85C>G, NM_001369644.1:c.85C>G, NM_001369636.1:c.85C>G, NM_001369641.1:c.85C>G, NM_001369632.1:c.85C>G, NM_001369637.1:c.85C>G, NR_161430.1:n.208C>G, NM_001369635.1:c.85C>G, NP_065157.1:p.Gln29Glu, NP_001121773.1:p.Gln29Glu, XP_011544210.1:p.Gln29Glu, XP_011544203.1:p.Gln29Glu, NP_001121774.1:p.Gln29Glu, XP_011544202.1:p.Gln29Glu, XP_016878964.2:p.Gln155Glu, NP_001289764.1:p.Gln29Glu, XP_016878965.2:p.Gln155Glu, NP_001289765.1:p.Gln29Glu, XP_016878967.1:p.Gln29Glu, XP_047290331.1:p.Gln29Glu, XP_047290332.1:p.Gln29Glu, XP_047290335.1:p.Gln29Glu, XP_047290329.1:p.Gln29Glu, XP_047290336.1:p.Gln29Glu, XP_047290334.1:p.Gln29Glu, XP_047290327.1:p.Gln155Glu, NP_001356571.1:p.Gln29Glu, XP_047290328.1:p.Gln29Glu, NP_001356574.1:p.Gln29Glu, NP_001356560.1:p.Gln29Glu, XP_047290330.1:p.Gln29Glu, NP_001356562.1:p.Gln29Glu, NP_001356567.1:p.Gln29Glu, NP_001356568.1:p.Gln29Glu, XP_047290333.1:p.Gln29Glu, NP_001356563.1:p.Gln29Glu, NP_001356573.1:p.Gln29Glu, NP_001356565.1:p.Gln29Glu, NP_001356570.1:p.Gln29Glu, NP_001356561.1:p.Gln29Glu, NP_001356566.1:p.Gln29Glu, NP_001356564.1:p.Gln29Glu

                                    18.

                                    rs1313486367 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      16:20924015 (GRCh38)
                                      16:20935337 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:20924014:A:G,NC_000016.10:20924014:A:T
                                      Gene:
                                      LYRM1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000071/1 (TOMMO)
                                      HGVS:
                                      NC_000016.10:g.20924015A>G, NC_000016.10:g.20924015A>T, NC_000016.9:g.20935337A>G, NC_000016.9:g.20935337A>T, NM_020424.5:c.268A>G, NM_020424.5:c.268A>T, NM_020424.4:c.268A>G, NM_020424.4:c.268A>T, NM_020424.3:c.268A>G, NM_020424.3:c.268A>T, NM_001128301.3:c.268A>G, NM_001128301.3:c.268A>T, NM_001128301.2:c.268A>G, NM_001128301.2:c.268A>T, NM_001128301.1:c.268A>G, NM_001128301.1:c.268A>T, XM_011545908.3:c.283A>G, XM_011545908.3:c.283A>T, XM_011545908.2:c.283A>G, XM_011545908.2:c.283A>T, XM_011545908.1:c.283A>G, XM_011545908.1:c.283A>T, XM_011545901.3:c.283A>G, XM_011545901.3:c.283A>T, XM_011545901.2:c.283A>G, XM_011545901.2:c.283A>T, XM_011545901.1:c.283A>G, XM_011545901.1:c.283A>T, NM_001128302.3:c.268A>G, NM_001128302.3:c.268A>T, NM_001128302.2:c.268A>G, NM_001128302.2:c.268A>T, NM_001128302.1:c.268A>G, NM_001128302.1:c.268A>T, XM_011545900.3:c.283A>G, XM_011545900.3:c.283A>T, XM_011545900.2:c.283A>G, XM_011545900.2:c.283A>T, XM_011545900.1:c.283A>G, XM_011545900.1:c.283A>T, XM_017023475.2:c.661A>G, XM_017023475.2:c.661A>T, XM_017023475.1:c.898A>G, XM_017023475.1:c.898A>T, NM_001302835.2:c.268A>G, NM_001302835.2:c.268A>T, NM_001302835.1:c.268A>G, NM_001302835.1:c.268A>T, XM_017023476.2:c.553A>G, XM_017023476.2:c.553A>T, XM_017023476.1:c.790A>G, XM_017023476.1:c.790A>T, NM_001302836.2:c.268A>G, NM_001302836.2:c.268A>T, NM_001302836.1:c.268A>G, NM_001302836.1:c.268A>T, XM_017023478.2:c.283A>G, XM_017023478.2:c.283A>T, XM_017023478.1:c.283A>G, XM_017023478.1:c.283A>T, NR_126528.2:n.464A>G, NR_126528.2:n.464A>T, NR_126528.1:n.579A>G, NR_126528.1:n.579A>T, NR_126516.2:n.460A>G, NR_126516.2:n.460A>T, NR_126516.1:n.565A>G, NR_126516.1:n.565A>T, NR_126520.2:n.232A>G, NR_126520.2:n.232A>T, NR_126520.1:n.347A>G, NR_126520.1:n.347A>T, NR_126521.2:n.228A>G, NR_126521.2:n.228A>T, NR_126521.1:n.333A>G, NR_126521.1:n.333A>T, NR_126527.2:n.192A>G, NR_126527.2:n.192A>T, NR_126527.1:n.161A>G, NR_126527.1:n.161A>T, XM_047434375.1:c.283A>G, XM_047434375.1:c.283A>T, XM_047434376.1:c.283A>G, XM_047434376.1:c.283A>T, XM_047434379.1:c.283A>G, XM_047434379.1:c.283A>T, XM_047434373.1:c.283A>G, XM_047434373.1:c.283A>T, XM_047434380.1:c.268A>G, XM_047434380.1:c.268A>T, XM_047434378.1:c.283A>G, XM_047434378.1:c.283A>T, XM_047434371.1:c.646A>G, XM_047434371.1:c.646A>T, NM_001369642.1:c.268A>G, NM_001369642.1:c.268A>T, XM_047434372.1:c.283A>G, XM_047434372.1:c.283A>T, NM_001369645.1:c.268A>G, NM_001369645.1:c.268A>T, NM_001369631.1:c.283A>G, NM_001369631.1:c.283A>T, XM_047434374.1:c.283A>G, XM_047434374.1:c.283A>T, NM_001369633.1:c.268A>G, NM_001369633.1:c.268A>T, NM_001369638.1:c.268A>G, NM_001369638.1:c.268A>T, NM_001369639.1:c.268A>G, NM_001369639.1:c.268A>T, NR_161432.1:n.542A>G, NR_161432.1:n.542A>T, XM_047434377.1:c.283A>G, XM_047434377.1:c.283A>T, NR_161429.1:n.475A>G, NR_161429.1:n.475A>T, NM_001369634.1:c.268A>G, NM_001369634.1:c.268A>T, NM_001369644.1:c.268A>G, NM_001369644.1:c.268A>T, NM_001369636.1:c.268A>G, NM_001369636.1:c.268A>T, NR_161426.1:n.454A>G, NR_161426.1:n.454A>T, NR_161431.1:n.424A>G, NR_161431.1:n.424A>T, NM_001369641.1:c.268A>G, NM_001369641.1:c.268A>T, NM_001369632.1:c.268A>G, NM_001369632.1:c.268A>T, NM_001369637.1:c.268A>G, NM_001369637.1:c.268A>T, NR_161430.1:n.298A>G, NR_161430.1:n.298A>T, NM_001369635.1:c.268A>G, NM_001369635.1:c.268A>T, NR_161425.1:n.228A>G, NR_161425.1:n.228A>T, NR_161427.1:n.217A>G, NR_161427.1:n.217A>T, NP_065157.1:p.Met90Val, NP_065157.1:p.Met90Leu, NP_001121773.1:p.Met90Val, NP_001121773.1:p.Met90Leu, XP_011544210.1:p.Met95Val, XP_011544210.1:p.Met95Leu, XP_011544203.1:p.Met95Val, XP_011544203.1:p.Met95Leu, NP_001121774.1:p.Met90Val, NP_001121774.1:p.Met90Leu, XP_011544202.1:p.Met95Val, XP_011544202.1:p.Met95Leu, XP_016878964.2:p.Met221Val, XP_016878964.2:p.Met221Leu, NP_001289764.1:p.Met90Val, NP_001289764.1:p.Met90Leu, XP_016878965.2:p.Met185Val, XP_016878965.2:p.Met185Leu, NP_001289765.1:p.Met90Val, NP_001289765.1:p.Met90Leu, XP_016878967.1:p.Met95Val, XP_016878967.1:p.Met95Leu, XP_047290331.1:p.Met95Val, XP_047290331.1:p.Met95Leu, XP_047290332.1:p.Met95Val, XP_047290332.1:p.Met95Leu, XP_047290335.1:p.Met95Val, XP_047290335.1:p.Met95Leu, XP_047290329.1:p.Met95Val, XP_047290329.1:p.Met95Leu, XP_047290336.1:p.Met90Val, XP_047290336.1:p.Met90Leu, XP_047290334.1:p.Met95Val, XP_047290334.1:p.Met95Leu, XP_047290327.1:p.Met216Val, XP_047290327.1:p.Met216Leu, NP_001356571.1:p.Met90Val, NP_001356571.1:p.Met90Leu, XP_047290328.1:p.Met95Val, XP_047290328.1:p.Met95Leu, NP_001356574.1:p.Met90Val, NP_001356574.1:p.Met90Leu, NP_001356560.1:p.Met95Val, NP_001356560.1:p.Met95Leu, XP_047290330.1:p.Met95Val, XP_047290330.1:p.Met95Leu, NP_001356562.1:p.Met90Val, NP_001356562.1:p.Met90Leu, NP_001356567.1:p.Met90Val, NP_001356567.1:p.Met90Leu, NP_001356568.1:p.Met90Val, NP_001356568.1:p.Met90Leu, XP_047290333.1:p.Met95Val, XP_047290333.1:p.Met95Leu, NP_001356563.1:p.Met90Val, NP_001356563.1:p.Met90Leu, NP_001356573.1:p.Met90Val, NP_001356573.1:p.Met90Leu, NP_001356565.1:p.Met90Val, NP_001356565.1:p.Met90Leu, NP_001356570.1:p.Met90Val, NP_001356570.1:p.Met90Leu, NP_001356561.1:p.Met90Val, NP_001356561.1:p.Met90Leu, NP_001356566.1:p.Met90Val, NP_001356566.1:p.Met90Leu, NP_001356564.1:p.Met90Val, NP_001356564.1:p.Met90Leu

                                      19.

                                      rs1306826388 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:20915710 (GRCh38)
                                        16:20927032 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:20915709:A:G
                                        Gene:
                                        LYRM1 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.20915710A>G, NC_000016.9:g.20927032A>G, NM_020424.5:c.155A>G, NM_020424.4:c.155A>G, NM_020424.3:c.155A>G, NM_001128301.3:c.155A>G, NM_001128301.2:c.155A>G, NM_001128301.1:c.155A>G, XM_011545908.3:c.155A>G, XM_011545908.2:c.155A>G, XM_011545908.1:c.155A>G, XM_011545901.3:c.155A>G, XM_011545901.2:c.155A>G, XM_011545901.1:c.155A>G, NM_001128302.3:c.155A>G, NM_001128302.2:c.155A>G, NM_001128302.1:c.155A>G, XM_011545900.3:c.155A>G, XM_011545900.2:c.155A>G, XM_011545900.1:c.155A>G, XM_017023475.2:c.533A>G, XM_017023475.1:c.770A>G, NM_001302835.2:c.155A>G, NM_001302835.1:c.155A>G, XM_017023476.2:c.533A>G, XM_017023476.1:c.770A>G, NM_001302836.2:c.155A>G, NM_001302836.1:c.155A>G, XM_017023478.2:c.155A>G, XM_017023478.1:c.155A>G, XM_047434375.1:c.155A>G, XM_047434376.1:c.155A>G, XM_047434379.1:c.155A>G, XM_047434373.1:c.155A>G, XM_047434380.1:c.155A>G, XM_047434378.1:c.155A>G, XM_047434371.1:c.533A>G, NM_001369642.1:c.155A>G, XM_047434372.1:c.155A>G, NM_001369645.1:c.155A>G, NM_001369631.1:c.155A>G, XM_047434374.1:c.155A>G, NM_001369633.1:c.155A>G, NM_001369638.1:c.155A>G, NM_001369639.1:c.155A>G, XM_047434377.1:c.155A>G, NM_001369634.1:c.155A>G, NM_001369644.1:c.155A>G, NM_001369636.1:c.155A>G, NM_001369641.1:c.155A>G, NM_001369632.1:c.155A>G, NM_001369637.1:c.155A>G, NR_161430.1:n.278A>G, NM_001369635.1:c.155A>G, NP_065157.1:p.Lys52Arg, NP_001121773.1:p.Lys52Arg, XP_011544210.1:p.Lys52Arg, XP_011544203.1:p.Lys52Arg, NP_001121774.1:p.Lys52Arg, XP_011544202.1:p.Lys52Arg, XP_016878964.2:p.Lys178Arg, NP_001289764.1:p.Lys52Arg, XP_016878965.2:p.Lys178Arg, NP_001289765.1:p.Lys52Arg, XP_016878967.1:p.Lys52Arg, XP_047290331.1:p.Lys52Arg, XP_047290332.1:p.Lys52Arg, XP_047290335.1:p.Lys52Arg, XP_047290329.1:p.Lys52Arg, XP_047290336.1:p.Lys52Arg, XP_047290334.1:p.Lys52Arg, XP_047290327.1:p.Lys178Arg, NP_001356571.1:p.Lys52Arg, XP_047290328.1:p.Lys52Arg, NP_001356574.1:p.Lys52Arg, NP_001356560.1:p.Lys52Arg, XP_047290330.1:p.Lys52Arg, NP_001356562.1:p.Lys52Arg, NP_001356567.1:p.Lys52Arg, NP_001356568.1:p.Lys52Arg, XP_047290333.1:p.Lys52Arg, NP_001356563.1:p.Lys52Arg, NP_001356573.1:p.Lys52Arg, NP_001356565.1:p.Lys52Arg, NP_001356570.1:p.Lys52Arg, NP_001356561.1:p.Lys52Arg, NP_001356566.1:p.Lys52Arg, NP_001356564.1:p.Lys52Arg

                                        20.

                                        rs1301348266 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:20915616 (GRCh38)
                                          16:20926938 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:20915615:A:G
                                          Gene:
                                          LYRM1 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.20915616A>G, NC_000016.9:g.20926938A>G, NM_020424.5:c.61A>G, NM_020424.4:c.61A>G, NM_020424.3:c.61A>G, NM_001128301.3:c.61A>G, NM_001128301.2:c.61A>G, NM_001128301.1:c.61A>G, XM_011545908.3:c.61A>G, XM_011545908.2:c.61A>G, XM_011545908.1:c.61A>G, XM_011545901.3:c.61A>G, XM_011545901.2:c.61A>G, XM_011545901.1:c.61A>G, NM_001128302.3:c.61A>G, NM_001128302.2:c.61A>G, NM_001128302.1:c.61A>G, XM_011545900.3:c.61A>G, XM_011545900.2:c.61A>G, XM_011545900.1:c.61A>G, XM_017023475.2:c.439A>G, XM_017023475.1:c.676A>G, NM_001302835.2:c.61A>G, NM_001302835.1:c.61A>G, XM_017023476.2:c.439A>G, XM_017023476.1:c.676A>G, NM_001302836.2:c.61A>G, NM_001302836.1:c.61A>G, XM_017023478.2:c.61A>G, XM_017023478.1:c.61A>G, XM_047434375.1:c.61A>G, XM_047434376.1:c.61A>G, XM_047434379.1:c.61A>G, XM_047434373.1:c.61A>G, XM_047434380.1:c.61A>G, XM_047434378.1:c.61A>G, XM_047434371.1:c.439A>G, NM_001369642.1:c.61A>G, XM_047434372.1:c.61A>G, NM_001369645.1:c.61A>G, NM_001369631.1:c.61A>G, XM_047434374.1:c.61A>G, NM_001369633.1:c.61A>G, NM_001369638.1:c.61A>G, NM_001369639.1:c.61A>G, XM_047434377.1:c.61A>G, NM_001369634.1:c.61A>G, NM_001369644.1:c.61A>G, NM_001369636.1:c.61A>G, NM_001369641.1:c.61A>G, NM_001369632.1:c.61A>G, NM_001369637.1:c.61A>G, NR_161430.1:n.184A>G, NM_001369635.1:c.61A>G, NP_065157.1:p.Arg21Gly, NP_001121773.1:p.Arg21Gly, XP_011544210.1:p.Arg21Gly, XP_011544203.1:p.Arg21Gly, NP_001121774.1:p.Arg21Gly, XP_011544202.1:p.Arg21Gly, XP_016878964.2:p.Arg147Gly, NP_001289764.1:p.Arg21Gly, XP_016878965.2:p.Arg147Gly, NP_001289765.1:p.Arg21Gly, XP_016878967.1:p.Arg21Gly, XP_047290331.1:p.Arg21Gly, XP_047290332.1:p.Arg21Gly, XP_047290335.1:p.Arg21Gly, XP_047290329.1:p.Arg21Gly, XP_047290336.1:p.Arg21Gly, XP_047290334.1:p.Arg21Gly, XP_047290327.1:p.Arg147Gly, NP_001356571.1:p.Arg21Gly, XP_047290328.1:p.Arg21Gly, NP_001356574.1:p.Arg21Gly, NP_001356560.1:p.Arg21Gly, XP_047290330.1:p.Arg21Gly, NP_001356562.1:p.Arg21Gly, NP_001356567.1:p.Arg21Gly, NP_001356568.1:p.Arg21Gly, XP_047290333.1:p.Arg21Gly, NP_001356563.1:p.Arg21Gly, NP_001356573.1:p.Arg21Gly, NP_001356565.1:p.Arg21Gly, NP_001356570.1:p.Arg21Gly, NP_001356561.1:p.Arg21Gly, NP_001356566.1:p.Arg21Gly, NP_001356564.1:p.Arg21Gly

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