U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 151

1.

rs1489591822 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    8:22161850 (GRCh38)
    8:22019363 (GRCh37)
    Canonical SPDI:
    NC_000008.11:22161849:G:C,NC_000008.11:22161849:G:T
    Gene:
    SFTPC (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000008.11:g.22161850G>C, NC_000008.11:g.22161850G>T, NC_000008.10:g.22019363G>C, NC_000008.10:g.22019363G>T, NG_029659.1:g.1711G>C, NG_029659.1:g.1711G>T, NG_016968.1:g.5180G>C, NG_016968.1:g.5180G>T, NM_003018.4:c.22G>C, NM_003018.4:c.22G>T, NM_003018.3:c.22G>C, NM_003018.3:c.22G>T, NM_001172357.2:c.22G>C, NM_001172357.2:c.22G>T, NM_001172357.1:c.22G>C, NM_001172357.1:c.22G>T, NM_001172410.2:c.22G>C, NM_001172410.2:c.22G>T, NM_001172410.1:c.22G>C, NM_001172410.1:c.22G>T, NM_001317778.2:c.22G>C, NM_001317778.2:c.22G>T, NM_001317778.1:c.22G>C, NM_001317778.1:c.22G>T, NM_001317780.2:c.22G>C, NM_001317780.2:c.22G>T, NM_001317780.1:c.22G>C, NM_001317780.1:c.22G>T, NM_001317779.2:c.22G>C, NM_001317779.2:c.22G>T, NM_001317779.1:c.22G>C, NM_001317779.1:c.22G>T, NM_001385656.1:c.22G>C, NM_001385656.1:c.22G>T, NM_001385655.1:c.22G>C, NM_001385655.1:c.22G>T, NM_001385654.1:c.22G>C, NM_001385654.1:c.22G>T, NM_001385658.1:c.22G>C, NM_001385658.1:c.22G>T, NM_001385657.1:c.22G>C, NM_001385657.1:c.22G>T, NM_001385660.1:c.22G>C, NM_001385660.1:c.22G>T, NM_001385659.1:c.22G>C, NM_001385659.1:c.22G>T, NM_001385653.1:c.22G>C, NM_001385653.1:c.22G>T, XM_011544613.4:c.22G>C, XM_011544613.4:c.22G>T, XM_011544613.3:c.22G>C, XM_011544613.3:c.22G>T, XM_011544613.2:c.22G>C, XM_011544613.2:c.22G>T, XM_011544613.1:c.22G>C, XM_011544613.1:c.22G>T, NP_003009.2:p.Val8Leu, NP_003009.2:p.Val8Phe, NP_001165828.1:p.Val8Leu, NP_001165828.1:p.Val8Phe, NP_001165881.1:p.Val8Leu, NP_001165881.1:p.Val8Phe, NP_001304707.1:p.Val8Leu, NP_001304707.1:p.Val8Phe, NP_001304709.1:p.Val8Leu, NP_001304709.1:p.Val8Phe, NP_001304708.1:p.Val8Leu, NP_001304708.1:p.Val8Phe, NP_001372585.1:p.Val8Leu, NP_001372585.1:p.Val8Phe, NP_001372584.1:p.Val8Leu, NP_001372584.1:p.Val8Phe, NP_001372583.1:p.Val8Leu, NP_001372583.1:p.Val8Phe, NP_001372587.1:p.Val8Leu, NP_001372587.1:p.Val8Phe, NP_001372586.1:p.Val8Leu, NP_001372586.1:p.Val8Phe, NP_001372589.1:p.Val8Leu, NP_001372589.1:p.Val8Phe, NP_001372588.1:p.Val8Leu, NP_001372588.1:p.Val8Phe, NP_001372582.1:p.Val8Leu, NP_001372582.1:p.Val8Phe, XP_011542915.1:p.Val8Leu, XP_011542915.1:p.Val8Phe

    2.

    rs1488690638 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:22163917 (GRCh38)
      8:22021430 (GRCh37)
      Canonical SPDI:
      NC_000008.11:22163916:C:T
      Gene:
      BMP1 (Varview), SFTPC (Varview)
      Functional Consequence:
      2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000008.11:g.22163917C>T, NC_000008.10:g.22021430C>T, NG_029659.1:g.3778C>T, NG_016968.1:g.7247C>T, NM_003018.4:c.470C>T, NM_003018.3:c.470C>T, NM_001172357.2:c.452C>T, NM_001172357.1:c.452C>T, NM_001172410.2:c.470C>T, NM_001172410.1:c.470C>T, NM_001317778.2:c.452C>T, NM_001317778.1:c.452C>T, NM_001317780.2:c.452C>T, NM_001317780.1:c.452C>T, NM_001317779.2:c.311C>T, NM_001317779.1:c.311C>T, NM_001385656.1:c.452C>T, NM_001385655.1:c.470C>T, NM_001385654.1:c.470C>T, NM_001385658.1:c.452C>T, NM_001385657.1:c.452C>T, NM_001385660.1:c.311C>T, NM_001385659.1:c.452C>T, NM_001385653.1:c.470C>T, XM_011544613.4:c.311C>T, XM_011544613.3:c.311C>T, XM_011544613.2:c.311C>T, XM_011544613.1:c.311C>T, NP_003009.2:p.Pro157Leu, NP_001165828.1:p.Pro151Leu, NP_001165881.1:p.Pro157Leu, NP_001304707.1:p.Pro151Leu, NP_001304709.1:p.Pro151Leu, NP_001304708.1:p.Pro104Leu, NP_001372585.1:p.Pro151Leu, NP_001372584.1:p.Pro157Leu, NP_001372583.1:p.Pro157Leu, NP_001372587.1:p.Pro151Leu, NP_001372586.1:p.Pro151Leu, NP_001372589.1:p.Pro104Leu, NP_001372588.1:p.Pro151Leu, NP_001372582.1:p.Pro157Leu, XP_011542915.1:p.Pro104Leu

      3.

      rs1474791847 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        8:22163965 (GRCh38)
        8:22021478 (GRCh37)
        Canonical SPDI:
        NC_000008.11:22163964:C:G,NC_000008.11:22163964:C:T
        Gene:
        BMP1 (Varview), SFTPC (Varview)
        Functional Consequence:
        missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000008.11:g.22163965C>G, NC_000008.11:g.22163965C>T, NC_000008.10:g.22021478C>G, NC_000008.10:g.22021478C>T, NG_029659.1:g.3826C>G, NG_029659.1:g.3826C>T, NG_016968.1:g.7295C>G, NG_016968.1:g.7295C>T, NM_003018.4:c.518C>G, NM_003018.4:c.518C>T, NM_003018.3:c.518C>G, NM_003018.3:c.518C>T, NM_001172357.2:c.500C>G, NM_001172357.2:c.500C>T, NM_001172357.1:c.500C>G, NM_001172357.1:c.500C>T, NM_001172410.2:c.518C>G, NM_001172410.2:c.518C>T, NM_001172410.1:c.518C>G, NM_001172410.1:c.518C>T, NM_001317778.2:c.500C>G, NM_001317778.2:c.500C>T, NM_001317778.1:c.500C>G, NM_001317778.1:c.500C>T, NM_001317780.2:c.500C>G, NM_001317780.2:c.500C>T, NM_001317780.1:c.500C>G, NM_001317780.1:c.500C>T, NM_001317779.2:c.359C>G, NM_001317779.2:c.359C>T, NM_001317779.1:c.359C>G, NM_001317779.1:c.359C>T, NM_001385656.1:c.500C>G, NM_001385656.1:c.500C>T, NM_001385655.1:c.518C>G, NM_001385655.1:c.518C>T, NM_001385654.1:c.518C>G, NM_001385654.1:c.518C>T, NM_001385658.1:c.500C>G, NM_001385658.1:c.500C>T, NM_001385657.1:c.500C>G, NM_001385657.1:c.500C>T, NM_001385660.1:c.359C>G, NM_001385660.1:c.359C>T, NM_001385659.1:c.500C>G, NM_001385659.1:c.500C>T, NM_001385653.1:c.518C>G, NM_001385653.1:c.518C>T, XM_011544613.4:c.359C>G, XM_011544613.4:c.359C>T, XM_011544613.3:c.359C>G, XM_011544613.3:c.359C>T, XM_011544613.2:c.359C>G, XM_011544613.2:c.359C>T, XM_011544613.1:c.359C>G, XM_011544613.1:c.359C>T, NP_003009.2:p.Pro173Arg, NP_003009.2:p.Pro173Leu, NP_001165828.1:p.Pro167Arg, NP_001165828.1:p.Pro167Leu, NP_001165881.1:p.Pro173Arg, NP_001165881.1:p.Pro173Leu, NP_001304707.1:p.Pro167Arg, NP_001304707.1:p.Pro167Leu, NP_001304709.1:p.Pro167Arg, NP_001304709.1:p.Pro167Leu, NP_001304708.1:p.Pro120Arg, NP_001304708.1:p.Pro120Leu, NP_001372585.1:p.Pro167Arg, NP_001372585.1:p.Pro167Leu, NP_001372584.1:p.Pro173Arg, NP_001372584.1:p.Pro173Leu, NP_001372583.1:p.Pro173Arg, NP_001372583.1:p.Pro173Leu, NP_001372587.1:p.Pro167Arg, NP_001372587.1:p.Pro167Leu, NP_001372586.1:p.Pro167Arg, NP_001372586.1:p.Pro167Leu, NP_001372589.1:p.Pro120Arg, NP_001372589.1:p.Pro120Leu, NP_001372588.1:p.Pro167Arg, NP_001372588.1:p.Pro167Leu, NP_001372582.1:p.Pro173Arg, NP_001372582.1:p.Pro173Leu, XP_011542915.1:p.Pro120Arg, XP_011542915.1:p.Pro120Leu

        4.

        rs1466932801 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          8:22163467 (GRCh38)
          8:22020980 (GRCh37)
          Canonical SPDI:
          NC_000008.11:22163466:C:G
          Gene:
          BMP1 (Varview), SFTPC (Varview)
          Functional Consequence:
          coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.22163467C>G, NC_000008.10:g.22020980C>G, NG_029659.1:g.3328C>G, NG_016968.1:g.6797C>G, NM_003018.4:c.356C>G, NM_003018.3:c.356C>G, NM_001172357.2:c.356C>G, NM_001172357.1:c.356C>G, NM_001172410.2:c.356C>G, NM_001172410.1:c.356C>G, NM_001317778.2:c.356C>G, NM_001317778.1:c.356C>G, NM_001317780.2:c.356C>G, NM_001317780.1:c.356C>G, NM_001317779.2:c.197C>G, NM_001317779.1:c.197C>G, NM_001385656.1:c.356C>G, NM_001385655.1:c.356C>G, NM_001385654.1:c.356C>G, NM_001385658.1:c.356C>G, NM_001385657.1:c.356C>G, NM_001385660.1:c.197C>G, NM_001385659.1:c.356C>G, NM_001385653.1:c.356C>G, XM_011544613.4:c.197C>G, XM_011544613.3:c.197C>G, XM_011544613.2:c.197C>G, XM_011544613.1:c.197C>G, NP_003009.2:p.Thr119Ser, NP_001165828.1:p.Thr119Ser, NP_001165881.1:p.Thr119Ser, NP_001304707.1:p.Thr119Ser, NP_001304709.1:p.Thr119Ser, NP_001304708.1:p.Thr66Ser, NP_001372585.1:p.Thr119Ser, NP_001372584.1:p.Thr119Ser, NP_001372583.1:p.Thr119Ser, NP_001372587.1:p.Thr119Ser, NP_001372586.1:p.Thr119Ser, NP_001372589.1:p.Thr66Ser, NP_001372588.1:p.Thr119Ser, NP_001372582.1:p.Thr119Ser, XP_011542915.1:p.Thr66Ser

          5.

          rs1458586109 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            8:22163973 (GRCh38)
            8:22021486 (GRCh37)
            Canonical SPDI:
            NC_000008.11:22163972:G:T
            Gene:
            BMP1 (Varview), SFTPC (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
            HGVS:
            NC_000008.11:g.22163973G>T, NC_000008.10:g.22021486G>T, NG_029659.1:g.3834G>T, NG_016968.1:g.7303G>T, NM_003018.4:c.526G>T, NM_003018.3:c.526G>T, NM_001172357.2:c.508G>T, NM_001172357.1:c.508G>T, NM_001172410.2:c.526G>T, NM_001172410.1:c.526G>T, NM_001317778.2:c.508G>T, NM_001317778.1:c.508G>T, NM_001317780.2:c.508G>T, NM_001317780.1:c.508G>T, NM_001317779.2:c.367G>T, NM_001317779.1:c.367G>T, NM_001385656.1:c.508G>T, NM_001385655.1:c.526G>T, NM_001385654.1:c.526G>T, NM_001385658.1:c.508G>T, NM_001385657.1:c.508G>T, NM_001385660.1:c.367G>T, NM_001385659.1:c.508G>T, NM_001385653.1:c.526G>T, XM_011544613.4:c.367G>T, XM_011544613.3:c.367G>T, XM_011544613.2:c.367G>T, XM_011544613.1:c.367G>T, NP_003009.2:p.Gly176Trp, NP_001165828.1:p.Gly170Trp, NP_001165881.1:p.Gly176Trp, NP_001304707.1:p.Gly170Trp, NP_001304709.1:p.Gly170Trp, NP_001304708.1:p.Gly123Trp, NP_001372585.1:p.Gly170Trp, NP_001372584.1:p.Gly176Trp, NP_001372583.1:p.Gly176Trp, NP_001372587.1:p.Gly170Trp, NP_001372586.1:p.Gly170Trp, NP_001372589.1:p.Gly123Trp, NP_001372588.1:p.Gly170Trp, NP_001372582.1:p.Gly176Trp, XP_011542915.1:p.Gly123Trp

            6.

            rs1451499324 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              8:22163902 (GRCh38)
              8:22021415 (GRCh37)
              Canonical SPDI:
              NC_000008.11:22163901:C:G
              Gene:
              BMP1 (Varview), SFTPC (Varview)
              Functional Consequence:
              missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (GnomAD_exomes)
              G=0.000014/2 (GnomAD)
              G=0.000049/13 (TOPMED)
              HGVS:
              NC_000008.11:g.22163902C>G, NC_000008.10:g.22021415C>G, NG_029659.1:g.3763C>G, NG_016968.1:g.7232C>G, NM_003018.4:c.455C>G, NM_003018.3:c.455C>G, NM_001172357.2:c.437C>G, NM_001172357.1:c.437C>G, NM_001172410.2:c.455C>G, NM_001172410.1:c.455C>G, NM_001317778.2:c.437C>G, NM_001317778.1:c.437C>G, NM_001317780.2:c.437C>G, NM_001317780.1:c.437C>G, NM_001317779.2:c.296C>G, NM_001317779.1:c.296C>G, NM_001385656.1:c.437C>G, NM_001385655.1:c.455C>G, NM_001385654.1:c.455C>G, NM_001385658.1:c.437C>G, NM_001385657.1:c.437C>G, NM_001385660.1:c.296C>G, NM_001385659.1:c.437C>G, NM_001385653.1:c.455C>G, XM_011544613.4:c.296C>G, XM_011544613.3:c.296C>G, XM_011544613.2:c.296C>G, XM_011544613.1:c.296C>G, NP_003009.2:p.Ala152Gly, NP_001165828.1:p.Ala146Gly, NP_001165881.1:p.Ala152Gly, NP_001304707.1:p.Ala146Gly, NP_001304709.1:p.Ala146Gly, NP_001304708.1:p.Ala99Gly, NP_001372585.1:p.Ala146Gly, NP_001372584.1:p.Ala152Gly, NP_001372583.1:p.Ala152Gly, NP_001372587.1:p.Ala146Gly, NP_001372586.1:p.Ala146Gly, NP_001372589.1:p.Ala99Gly, NP_001372588.1:p.Ala146Gly, NP_001372582.1:p.Ala152Gly, XP_011542915.1:p.Ala99Gly

              7.

              rs1440233297 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                8:22163911 (GRCh38)
                8:22021424 (GRCh37)
                Canonical SPDI:
                NC_000008.11:22163910:C:T
                Gene:
                BMP1 (Varview), SFTPC (Varview)
                Functional Consequence:
                upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000066/1 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000223/1 (Estonian)
                HGVS:
                NC_000008.11:g.22163911C>T, NC_000008.10:g.22021424C>T, NG_029659.1:g.3772C>T, NG_016968.1:g.7241C>T, NM_003018.4:c.464C>T, NM_003018.3:c.464C>T, NM_001172357.2:c.446C>T, NM_001172357.1:c.446C>T, NM_001172410.2:c.464C>T, NM_001172410.1:c.464C>T, NM_001317778.2:c.446C>T, NM_001317778.1:c.446C>T, NM_001317780.2:c.446C>T, NM_001317780.1:c.446C>T, NM_001317779.2:c.305C>T, NM_001317779.1:c.305C>T, NM_001385656.1:c.446C>T, NM_001385655.1:c.464C>T, NM_001385654.1:c.464C>T, NM_001385658.1:c.446C>T, NM_001385657.1:c.446C>T, NM_001385660.1:c.305C>T, NM_001385659.1:c.446C>T, NM_001385653.1:c.464C>T, XM_011544613.4:c.305C>T, XM_011544613.3:c.305C>T, XM_011544613.2:c.305C>T, XM_011544613.1:c.305C>T, NP_003009.2:p.Ala155Val, NP_001165828.1:p.Ala149Val, NP_001165881.1:p.Ala155Val, NP_001304707.1:p.Ala149Val, NP_001304709.1:p.Ala149Val, NP_001304708.1:p.Ala102Val, NP_001372585.1:p.Ala149Val, NP_001372584.1:p.Ala155Val, NP_001372583.1:p.Ala155Val, NP_001372587.1:p.Ala149Val, NP_001372586.1:p.Ala149Val, NP_001372589.1:p.Ala102Val, NP_001372588.1:p.Ala149Val, NP_001372582.1:p.Ala155Val, XP_011542915.1:p.Ala102Val

                8.

                rs1438804047 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:22163447 (GRCh38)
                  8:22020960 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:22163446:C:T
                  Gene:
                  BMP1 (Varview), SFTPC (Varview)
                  Functional Consequence:
                  synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1438227181 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:22163441 (GRCh38)
                    8:22020954 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:22163440:G:A
                    Gene:
                    BMP1 (Varview), SFTPC (Varview)
                    Functional Consequence:
                    synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0./0 (GnomAD)
                    A=0.000012/3 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1413448440 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:22164039 (GRCh38)
                      8:22021552 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:22164038:T:C
                      Gene:
                      BMP1 (Varview), SFTPC (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,terminator_codon_variant,2KB_upstream_variant,stop_lost
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000008.11:g.22164039T>C, NC_000008.10:g.22021552T>C, NG_029659.1:g.3900T>C, NG_016968.1:g.7369T>C, NM_003018.4:c.592T>C, NM_003018.3:c.592T>C, NM_001172357.2:c.574T>C, NM_001172357.1:c.574T>C, NM_001172410.2:c.592T>C, NM_001172410.1:c.592T>C, NM_001317778.2:c.574T>C, NM_001317778.1:c.574T>C, NM_001317780.2:c.574T>C, NM_001317780.1:c.574T>C, NM_001317779.2:c.433T>C, NM_001317779.1:c.433T>C, NM_001385656.1:c.574T>C, NM_001385655.1:c.592T>C, NM_001385654.1:c.592T>C, NM_001385658.1:c.574T>C, NM_001385657.1:c.574T>C, NM_001385660.1:c.433T>C, NM_001385659.1:c.574T>C, NM_001385653.1:c.592T>C, XM_011544613.4:c.433T>C, XM_011544613.3:c.433T>C, XM_011544613.2:c.433T>C, XM_011544613.1:c.433T>C, NP_003009.2:p.Ter198Gln, NP_001165828.1:p.Ter192Gln, NP_001165881.1:p.Ter198Gln, NP_001304707.1:p.Ter192Gln, NP_001304709.1:p.Ter192Gln, NP_001304708.1:p.Ter145Gln, NP_001372585.1:p.Ter192Gln, NP_001372584.1:p.Ter198Gln, NP_001372583.1:p.Ter198Gln, NP_001372587.1:p.Ter192Gln, NP_001372586.1:p.Ter192Gln, NP_001372589.1:p.Ter145Gln, NP_001372588.1:p.Ter192Gln, NP_001372582.1:p.Ter198Gln, XP_011542915.1:p.Ter145Gln

                      11.

                      rs1412548493 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        8:22163964 (GRCh38)
                        8:22021477 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:22163963:C:A
                        Gene:
                        BMP1 (Varview), SFTPC (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.22163964C>A, NC_000008.10:g.22021477C>A, NG_029659.1:g.3825C>A, NG_016968.1:g.7294C>A, NM_003018.4:c.517C>A, NM_003018.3:c.517C>A, NM_001172357.2:c.499C>A, NM_001172357.1:c.499C>A, NM_001172410.2:c.517C>A, NM_001172410.1:c.517C>A, NM_001317778.2:c.499C>A, NM_001317778.1:c.499C>A, NM_001317780.2:c.499C>A, NM_001317780.1:c.499C>A, NM_001317779.2:c.358C>A, NM_001317779.1:c.358C>A, NM_001385656.1:c.499C>A, NM_001385655.1:c.517C>A, NM_001385654.1:c.517C>A, NM_001385658.1:c.499C>A, NM_001385657.1:c.499C>A, NM_001385660.1:c.358C>A, NM_001385659.1:c.499C>A, NM_001385653.1:c.517C>A, XM_011544613.4:c.358C>A, XM_011544613.3:c.358C>A, XM_011544613.2:c.358C>A, XM_011544613.1:c.358C>A, NP_003009.2:p.Pro173Thr, NP_001165828.1:p.Pro167Thr, NP_001165881.1:p.Pro173Thr, NP_001304707.1:p.Pro167Thr, NP_001304709.1:p.Pro167Thr, NP_001304708.1:p.Pro120Thr, NP_001372585.1:p.Pro167Thr, NP_001372584.1:p.Pro173Thr, NP_001372583.1:p.Pro173Thr, NP_001372587.1:p.Pro167Thr, NP_001372586.1:p.Pro167Thr, NP_001372589.1:p.Pro120Thr, NP_001372588.1:p.Pro167Thr, NP_001372582.1:p.Pro173Thr, XP_011542915.1:p.Pro120Thr

                        12.

                        rs1410884781 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          8:22163502 (GRCh38)
                          8:22021015 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:22163501:A:C
                          Gene:
                          BMP1 (Varview), SFTPC (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (GnomAD_exomes)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000008.11:g.22163502A>C, NC_000008.10:g.22021015A>C, NG_029659.1:g.3363A>C, NG_016968.1:g.6832A>C, NM_003018.4:c.391A>C, NM_003018.3:c.391A>C, NM_001172357.2:c.391A>C, NM_001172357.1:c.391A>C, NM_001172410.2:c.391A>C, NM_001172410.1:c.391A>C, NM_001317778.2:c.391A>C, NM_001317778.1:c.391A>C, NM_001317780.2:c.391A>C, NM_001317780.1:c.391A>C, NM_001317779.2:c.232A>C, NM_001317779.1:c.232A>C, NM_001385656.1:c.391A>C, NM_001385655.1:c.391A>C, NM_001385654.1:c.391A>C, NM_001385658.1:c.391A>C, NM_001385657.1:c.391A>C, NM_001385660.1:c.232A>C, NM_001385659.1:c.391A>C, NM_001385653.1:c.391A>C, XM_011544613.4:c.232A>C, XM_011544613.3:c.232A>C, XM_011544613.2:c.232A>C, XM_011544613.1:c.232A>C, NP_003009.2:p.Ile131Leu, NP_001165828.1:p.Ile131Leu, NP_001165881.1:p.Ile131Leu, NP_001304707.1:p.Ile131Leu, NP_001304709.1:p.Ile131Leu, NP_001304708.1:p.Ile78Leu, NP_001372585.1:p.Ile131Leu, NP_001372584.1:p.Ile131Leu, NP_001372583.1:p.Ile131Leu, NP_001372587.1:p.Ile131Leu, NP_001372586.1:p.Ile131Leu, NP_001372589.1:p.Ile78Leu, NP_001372588.1:p.Ile131Leu, NP_001372582.1:p.Ile131Leu, XP_011542915.1:p.Ile78Leu

                          13.

                          rs1410189595 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            8:22163505 (GRCh38)
                            8:22021018 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:22163504:C:A,NC_000008.11:22163504:C:G
                            Gene:
                            BMP1 (Varview), SFTPC (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000066/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            A=0.000223/1 (Estonian)
                            HGVS:
                            NC_000008.11:g.22163505C>A, NC_000008.11:g.22163505C>G, NC_000008.10:g.22021018C>A, NC_000008.10:g.22021018C>G, NG_029659.1:g.3366C>A, NG_029659.1:g.3366C>G, NG_016968.1:g.6835C>A, NG_016968.1:g.6835C>G, NM_003018.4:c.394C>A, NM_003018.4:c.394C>G, NM_003018.3:c.394C>A, NM_003018.3:c.394C>G, NM_001172357.2:c.394C>A, NM_001172357.2:c.394C>G, NM_001172357.1:c.394C>A, NM_001172357.1:c.394C>G, NM_001172410.2:c.394C>A, NM_001172410.2:c.394C>G, NM_001172410.1:c.394C>A, NM_001172410.1:c.394C>G, NM_001317778.2:c.394C>A, NM_001317778.2:c.394C>G, NM_001317778.1:c.394C>A, NM_001317778.1:c.394C>G, NM_001317780.2:c.394C>A, NM_001317780.2:c.394C>G, NM_001317780.1:c.394C>A, NM_001317780.1:c.394C>G, NM_001317779.2:c.235C>A, NM_001317779.2:c.235C>G, NM_001317779.1:c.235C>A, NM_001317779.1:c.235C>G, NM_001385656.1:c.394C>A, NM_001385656.1:c.394C>G, NM_001385655.1:c.394C>A, NM_001385655.1:c.394C>G, NM_001385654.1:c.394C>A, NM_001385654.1:c.394C>G, NM_001385658.1:c.394C>A, NM_001385658.1:c.394C>G, NM_001385657.1:c.394C>A, NM_001385657.1:c.394C>G, NM_001385660.1:c.235C>A, NM_001385660.1:c.235C>G, NM_001385659.1:c.394C>A, NM_001385659.1:c.394C>G, NM_001385653.1:c.394C>A, NM_001385653.1:c.394C>G, XM_011544613.4:c.235C>A, XM_011544613.4:c.235C>G, XM_011544613.3:c.235C>A, XM_011544613.3:c.235C>G, XM_011544613.2:c.235C>A, XM_011544613.2:c.235C>G, XM_011544613.1:c.235C>A, XM_011544613.1:c.235C>G, NP_003009.2:p.Pro132Thr, NP_003009.2:p.Pro132Ala, NP_001165828.1:p.Pro132Thr, NP_001165828.1:p.Pro132Ala, NP_001165881.1:p.Pro132Thr, NP_001165881.1:p.Pro132Ala, NP_001304707.1:p.Pro132Thr, NP_001304707.1:p.Pro132Ala, NP_001304709.1:p.Pro132Thr, NP_001304709.1:p.Pro132Ala, NP_001304708.1:p.Pro79Thr, NP_001304708.1:p.Pro79Ala, NP_001372585.1:p.Pro132Thr, NP_001372585.1:p.Pro132Ala, NP_001372584.1:p.Pro132Thr, NP_001372584.1:p.Pro132Ala, NP_001372583.1:p.Pro132Thr, NP_001372583.1:p.Pro132Ala, NP_001372587.1:p.Pro132Thr, NP_001372587.1:p.Pro132Ala, NP_001372586.1:p.Pro132Thr, NP_001372586.1:p.Pro132Ala, NP_001372589.1:p.Pro79Thr, NP_001372589.1:p.Pro79Ala, NP_001372588.1:p.Pro132Thr, NP_001372588.1:p.Pro132Ala, NP_001372582.1:p.Pro132Thr, NP_001372582.1:p.Pro132Ala, XP_011542915.1:p.Pro79Thr, XP_011542915.1:p.Pro79Ala

                            14.

                            rs1401760621 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,G [Show Flanks]
                              Chromosome:
                              8:22163503 (GRCh38)
                              8:22021016 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:22163502:T:A,NC_000008.11:22163502:T:G
                              Gene:
                              BMP1 (Varview), SFTPC (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000008.11:g.22163503T>A, NC_000008.11:g.22163503T>G, NC_000008.10:g.22021016T>A, NC_000008.10:g.22021016T>G, NG_029659.1:g.3364T>A, NG_029659.1:g.3364T>G, NG_016968.1:g.6833T>A, NG_016968.1:g.6833T>G, NM_003018.4:c.392T>A, NM_003018.4:c.392T>G, NM_003018.3:c.392T>A, NM_003018.3:c.392T>G, NM_001172357.2:c.392T>A, NM_001172357.2:c.392T>G, NM_001172357.1:c.392T>A, NM_001172357.1:c.392T>G, NM_001172410.2:c.392T>A, NM_001172410.2:c.392T>G, NM_001172410.1:c.392T>A, NM_001172410.1:c.392T>G, NM_001317778.2:c.392T>A, NM_001317778.2:c.392T>G, NM_001317778.1:c.392T>A, NM_001317778.1:c.392T>G, NM_001317780.2:c.392T>A, NM_001317780.2:c.392T>G, NM_001317780.1:c.392T>A, NM_001317780.1:c.392T>G, NM_001317779.2:c.233T>A, NM_001317779.2:c.233T>G, NM_001317779.1:c.233T>A, NM_001317779.1:c.233T>G, NM_001385656.1:c.392T>A, NM_001385656.1:c.392T>G, NM_001385655.1:c.392T>A, NM_001385655.1:c.392T>G, NM_001385654.1:c.392T>A, NM_001385654.1:c.392T>G, NM_001385658.1:c.392T>A, NM_001385658.1:c.392T>G, NM_001385657.1:c.392T>A, NM_001385657.1:c.392T>G, NM_001385660.1:c.233T>A, NM_001385660.1:c.233T>G, NM_001385659.1:c.392T>A, NM_001385659.1:c.392T>G, NM_001385653.1:c.392T>A, NM_001385653.1:c.392T>G, XM_011544613.4:c.233T>A, XM_011544613.4:c.233T>G, XM_011544613.3:c.233T>A, XM_011544613.3:c.233T>G, XM_011544613.2:c.233T>A, XM_011544613.2:c.233T>G, XM_011544613.1:c.233T>A, XM_011544613.1:c.233T>G, NP_003009.2:p.Ile131Asn, NP_003009.2:p.Ile131Ser, NP_001165828.1:p.Ile131Asn, NP_001165828.1:p.Ile131Ser, NP_001165881.1:p.Ile131Asn, NP_001165881.1:p.Ile131Ser, NP_001304707.1:p.Ile131Asn, NP_001304707.1:p.Ile131Ser, NP_001304709.1:p.Ile131Asn, NP_001304709.1:p.Ile131Ser, NP_001304708.1:p.Ile78Asn, NP_001304708.1:p.Ile78Ser, NP_001372585.1:p.Ile131Asn, NP_001372585.1:p.Ile131Ser, NP_001372584.1:p.Ile131Asn, NP_001372584.1:p.Ile131Ser, NP_001372583.1:p.Ile131Asn, NP_001372583.1:p.Ile131Ser, NP_001372587.1:p.Ile131Asn, NP_001372587.1:p.Ile131Ser, NP_001372586.1:p.Ile131Asn, NP_001372586.1:p.Ile131Ser, NP_001372589.1:p.Ile78Asn, NP_001372589.1:p.Ile78Ser, NP_001372588.1:p.Ile131Asn, NP_001372588.1:p.Ile131Ser, NP_001372582.1:p.Ile131Asn, NP_001372582.1:p.Ile131Ser, XP_011542915.1:p.Ile78Asn, XP_011542915.1:p.Ile78Ser

                              15.

                              rs1394455969 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:22163978 (GRCh38)
                                8:22021491 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:22163977:C:T
                                Gene:
                                BMP1 (Varview), SFTPC (Varview)
                                Functional Consequence:
                                synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                HGVS:

                                16.

                                rs1389151543 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:22163909 (GRCh38)
                                  8:22021422 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:22163908:C:T
                                  Gene:
                                  BMP1 (Varview), SFTPC (Varview)
                                  Functional Consequence:
                                  synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1375414266 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    8:22164036 (GRCh38)
                                    8:22021549 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:22164035:A:C
                                    Gene:
                                    BMP1 (Varview), SFTPC (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (GnomAD_exomes)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.22164036A>C, NC_000008.10:g.22021549A>C, NG_029659.1:g.3897A>C, NG_016968.1:g.7366A>C, NM_003018.4:c.589A>C, NM_003018.3:c.589A>C, NM_001172357.2:c.571A>C, NM_001172357.1:c.571A>C, NM_001172410.2:c.589A>C, NM_001172410.1:c.589A>C, NM_001317778.2:c.571A>C, NM_001317778.1:c.571A>C, NM_001317780.2:c.571A>C, NM_001317780.1:c.571A>C, NM_001317779.2:c.430A>C, NM_001317779.1:c.430A>C, NM_001385656.1:c.571A>C, NM_001385655.1:c.589A>C, NM_001385654.1:c.589A>C, NM_001385658.1:c.571A>C, NM_001385657.1:c.571A>C, NM_001385660.1:c.430A>C, NM_001385659.1:c.571A>C, NM_001385653.1:c.589A>C, XM_011544613.4:c.430A>C, XM_011544613.3:c.430A>C, XM_011544613.2:c.430A>C, XM_011544613.1:c.430A>C, NP_003009.2:p.Ile197Leu, NP_001165828.1:p.Ile191Leu, NP_001165881.1:p.Ile197Leu, NP_001304707.1:p.Ile191Leu, NP_001304709.1:p.Ile191Leu, NP_001304708.1:p.Ile144Leu, NP_001372585.1:p.Ile191Leu, NP_001372584.1:p.Ile197Leu, NP_001372583.1:p.Ile197Leu, NP_001372587.1:p.Ile191Leu, NP_001372586.1:p.Ile191Leu, NP_001372589.1:p.Ile144Leu, NP_001372588.1:p.Ile191Leu, NP_001372582.1:p.Ile197Leu, XP_011542915.1:p.Ile144Leu

                                    18.

                                    rs1371487903 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      8:22164021 (GRCh38)
                                      8:22021534 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:22164020:G:T
                                      Gene:
                                      BMP1 (Varview), SFTPC (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.22164021G>T, NC_000008.10:g.22021534G>T, NG_029659.1:g.3882G>T, NG_016968.1:g.7351G>T, NM_003018.4:c.574G>T, NM_003018.3:c.574G>T, NM_001172357.2:c.556G>T, NM_001172357.1:c.556G>T, NM_001172410.2:c.574G>T, NM_001172410.1:c.574G>T, NM_001317778.2:c.556G>T, NM_001317778.1:c.556G>T, NM_001317780.2:c.556G>T, NM_001317780.1:c.556G>T, NM_001317779.2:c.415G>T, NM_001317779.1:c.415G>T, NM_001385656.1:c.556G>T, NM_001385655.1:c.574G>T, NM_001385654.1:c.574G>T, NM_001385658.1:c.556G>T, NM_001385657.1:c.556G>T, NM_001385660.1:c.415G>T, NM_001385659.1:c.556G>T, NM_001385653.1:c.574G>T, XM_011544613.4:c.415G>T, XM_011544613.3:c.415G>T, XM_011544613.2:c.415G>T, XM_011544613.1:c.415G>T, NP_003009.2:p.Val192Leu, NP_001165828.1:p.Val186Leu, NP_001165881.1:p.Val192Leu, NP_001304707.1:p.Val186Leu, NP_001304709.1:p.Val186Leu, NP_001304708.1:p.Val139Leu, NP_001372585.1:p.Val186Leu, NP_001372584.1:p.Val192Leu, NP_001372583.1:p.Val192Leu, NP_001372587.1:p.Val186Leu, NP_001372586.1:p.Val186Leu, NP_001372589.1:p.Val139Leu, NP_001372588.1:p.Val186Leu, NP_001372582.1:p.Val192Leu, XP_011542915.1:p.Val139Leu

                                      19.

                                      rs1369283825 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        8:22163954 (GRCh38)
                                        8:22021467 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:22163953:A:T
                                        Gene:
                                        BMP1 (Varview), SFTPC (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1350723953 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          8:22163202 (GRCh38)
                                          8:22020715 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:22163201:G:A
                                          Gene:
                                          SFTPC (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...