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1.

rs1489930336 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:120224368 (GRCh38)
    12:120662171 (GRCh37)
    Canonical SPDI:
    NC_000012.12:120224367:A:G
    Gene:
    PXN (Varview), LOC124903034 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.120224368A>G, NC_000012.11:g.120662171A>G, NG_029820.1:g.46404T>C, NM_025157.5:c.-377T>C, NM_025157.4:c.-377T>C, NM_002859.4:c.23T>C, NM_002859.3:c.23T>C, NM_001080855.3:c.23T>C, NM_001080855.2:c.23T>C, NM_001243756.2:c.23T>C, NM_001243756.1:c.23T>C, NM_001385981.1:c.23T>C, NM_001385982.1:c.23T>C, NM_001385983.1:c.23T>C, NM_001385984.1:c.23T>C, NM_001385985.1:c.23T>C, NM_001385986.1:c.23T>C, NM_001385987.1:c.23T>C, NM_001385988.1:c.23T>C, NM_001385989.1:c.23T>C, NM_001385990.1:c.23T>C, XM_006719532.3:c.23T>C, XM_006719532.2:c.23T>C, XM_006719532.1:c.23T>C, XM_017019739.3:c.41T>C, XM_017019739.2:c.41T>C, XM_017019739.1:c.41T>C, XM_017019740.3:c.41T>C, XM_017019740.2:c.41T>C, XM_017019740.1:c.41T>C, XM_017019742.3:c.41T>C, XM_017019742.2:c.41T>C, XM_017019742.1:c.41T>C, XM_011538622.2:c.-377T>C, XM_011538622.1:c.-377T>C, NM_176827.1:c.-57935A>G, XM_047429236.1:c.41T>C, XR_007063486.1:n.3889A>G, XR_007063487.1:n.3889A>G, NM_001410986.1:c.17T>C, XM_047429242.1:c.26T>C, XM_047429243.1:c.17T>C, XM_047429244.1:c.26T>C, XM_047429245.1:c.17T>C, XM_047429250.1:c.17T>C, XM_047429249.1:c.26T>C, XM_047429239.1:c.23T>C, XM_047429240.1:c.23T>C, XM_047429241.1:c.23T>C, XM_047429251.1:c.-377T>C, XM_047429252.1:c.-377T>C, XM_047429246.1:c.23T>C, XM_047429253.1:c.-377T>C, XM_047429248.1:c.23T>C, NP_002850.2:p.Leu8Pro, NP_001074324.1:p.Leu8Pro, NP_001230685.1:p.Leu8Pro, NP_001372910.1:p.Leu8Pro, NP_001372911.1:p.Leu8Pro, NP_001372912.1:p.Leu8Pro, NP_001372913.1:p.Leu8Pro, NP_001372914.1:p.Leu8Pro, NP_001372915.1:p.Leu8Pro, NP_001372916.1:p.Leu8Pro, NP_001372917.1:p.Leu8Pro, NP_001372918.1:p.Leu8Pro, NP_001372919.1:p.Leu8Pro, XP_006719595.1:p.Leu8Pro, XP_016875228.1:p.Leu14Pro, XP_016875229.1:p.Leu14Pro, XP_016875231.1:p.Leu14Pro, XP_047285192.1:p.Leu14Pro, XP_047285198.1:p.Leu9Pro, XP_047285199.1:p.Leu6Pro, XP_047285200.1:p.Leu9Pro, XP_047285201.1:p.Leu6Pro, XP_047285206.1:p.Leu6Pro, XP_047285205.1:p.Leu9Pro, XP_047285195.1:p.Leu8Pro, XP_047285196.1:p.Leu8Pro, XP_047285197.1:p.Leu8Pro, XP_047285202.1:p.Leu8Pro, XP_047285204.1:p.Leu8Pro

    2.

    rs1489538055 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:120221696 (GRCh38)
      12:120659499 (GRCh37)
      Canonical SPDI:
      NC_000012.12:120221695:T:C
      Gene:
      PXN (Varview), LOC124903034 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000057/2 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000011/2 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.120221696T>C, NC_000012.11:g.120659499T>C, NG_029820.1:g.49076A>G, NM_025157.5:c.359A>G, NM_025157.4:c.359A>G, NM_002859.4:c.758A>G, NM_002859.3:c.758A>G, NM_001080855.3:c.758A>G, NM_001080855.2:c.758A>G, NM_001243756.2:c.758A>G, NM_001243756.1:c.758A>G, NM_001385981.1:c.758A>G, NM_001385982.1:c.758A>G, NM_001385983.1:c.758A>G, NM_001385984.1:c.758A>G, NM_001385985.1:c.758A>G, NM_001385986.1:c.758A>G, NM_001385987.1:c.758A>G, NM_001385988.1:c.758A>G, NM_001385989.1:c.758A>G, NM_001385990.1:c.758A>G, XM_006719532.3:c.758A>G, XM_006719532.2:c.758A>G, XM_006719532.1:c.758A>G, XM_017019739.3:c.776A>G, XM_017019739.2:c.776A>G, XM_017019739.1:c.776A>G, XM_017019740.3:c.776A>G, XM_017019740.2:c.776A>G, XM_017019740.1:c.776A>G, XM_017019742.3:c.776A>G, XM_017019742.2:c.776A>G, XM_017019742.1:c.776A>G, XM_017019732.3:c.359A>G, XM_017019732.2:c.776A>G, XM_017019732.1:c.776A>G, XM_011538622.2:c.359A>G, XM_011538622.1:c.359A>G, XR_002957365.2:n.676A>G, XR_002957365.1:n.1092A>G, NM_176827.1:c.-60607T>C, XM_047429236.1:c.776A>G, XR_007063486.1:n.1217T>C, XR_007063487.1:n.1217T>C, XM_047429237.1:c.359A>G, NM_001410986.1:c.752A>G, XM_047429238.1:c.359A>G, XM_047429242.1:c.761A>G, XM_047429243.1:c.752A>G, XM_047429244.1:c.761A>G, XM_047429245.1:c.752A>G, XM_047429250.1:c.752A>G, XM_047429249.1:c.761A>G, XM_047429239.1:c.758A>G, XM_047429240.1:c.758A>G, XM_047429241.1:c.758A>G, XM_047429251.1:c.359A>G, XM_047429252.1:c.359A>G, XM_047429246.1:c.758A>G, XM_047429253.1:c.359A>G, XM_047429248.1:c.758A>G, NP_079433.3:p.Gln120Arg, NP_002850.2:p.Gln253Arg, NP_001074324.1:p.Gln253Arg, NP_001230685.1:p.Gln253Arg, NP_001372910.1:p.Gln253Arg, NP_001372911.1:p.Gln253Arg, NP_001372912.1:p.Gln253Arg, NP_001372913.1:p.Gln253Arg, NP_001372914.1:p.Gln253Arg, NP_001372915.1:p.Gln253Arg, NP_001372916.1:p.Gln253Arg, NP_001372917.1:p.Gln253Arg, NP_001372918.1:p.Gln253Arg, NP_001372919.1:p.Gln253Arg, XP_006719595.1:p.Gln253Arg, XP_016875228.1:p.Gln259Arg, XP_016875229.1:p.Gln259Arg, XP_016875231.1:p.Gln259Arg, XP_016875221.2:p.Gln120Arg, XP_011536924.1:p.Gln120Arg, XP_047285192.1:p.Gln259Arg, XP_047285193.1:p.Gln120Arg, XP_047285194.1:p.Gln120Arg, XP_047285198.1:p.Gln254Arg, XP_047285199.1:p.Gln251Arg, XP_047285200.1:p.Gln254Arg, XP_047285201.1:p.Gln251Arg, XP_047285206.1:p.Gln251Arg, XP_047285205.1:p.Gln254Arg, XP_047285195.1:p.Gln253Arg, XP_047285196.1:p.Gln253Arg, XP_047285197.1:p.Gln253Arg, XP_047285207.1:p.Gln120Arg, XP_047285208.1:p.Gln120Arg, XP_047285202.1:p.Gln253Arg, XP_047285209.1:p.Gln120Arg, XP_047285204.1:p.Gln253Arg

      3.

      rs1489325645 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:120215152 (GRCh38)
        12:120652955 (GRCh37)
        Canonical SPDI:
        NC_000012.12:120215151:G:A
        Gene:
        PXN (Varview)
        Functional Consequence:
        downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        HGVS:
        NC_000012.12:g.120215152G>A, NC_000012.11:g.120652955G>A, NG_029820.1:g.55620C>T, NM_025157.5:c.554C>T, NM_025157.4:c.554C>T, NM_002859.4:c.953C>T, NM_002859.3:c.953C>T, NM_001080855.3:c.1055C>T, NM_001080855.2:c.1055C>T, NM_001243756.2:c.1097C>T, NM_001243756.1:c.1097C>T, NM_001385981.1:c.2525C>T, NM_001385982.1:c.2249C>T, NM_001385983.1:c.2243C>T, NM_001385984.1:c.1982C>T, NM_001385985.1:c.1838C>T, NM_001385986.1:c.1502C>T, NM_001385987.1:c.1364C>T, NM_001385988.1:c.1199C>T, NM_001385989.1:c.1049C>T, NM_001385990.1:c.953C>T, XM_006719532.3:c.2669C>T, XM_006719532.2:c.2669C>T, XM_006719532.1:c.2669C>T, XM_017019739.3:c.1115C>T, XM_017019739.2:c.1115C>T, XM_017019739.1:c.1115C>T, XM_017019740.3:c.1073C>T, XM_017019740.2:c.1073C>T, XM_017019740.1:c.1073C>T, XM_017019742.3:c.971C>T, XM_017019742.2:c.971C>T, XM_017019742.1:c.971C>T, XM_011538622.2:c.2270C>T, XM_011538622.1:c.2270C>T, XR_002957365.2:n.2786C>T, XR_002957365.1:n.3202C>T, NM_176827.1:c.-67151G>A, XM_047429236.1:c.2687C>T, XM_047429237.1:c.1685C>T, NM_001410986.1:c.1049C>T, XM_047429238.1:c.1541C>T, XM_047429242.1:c.1100C>T, XM_047429243.1:c.1091C>T, XM_047429244.1:c.1058C>T, XM_047429245.1:c.1049C>T, XM_047429250.1:c.947C>T, XM_047429249.1:c.956C>T, XM_047429239.1:c.1508C>T, XM_047429240.1:c.1199C>T, XM_047429241.1:c.1193C>T, XM_047429251.1:c.800C>T, XM_047429252.1:c.698C>T, XM_047429246.1:c.1049C>T, XM_047429253.1:c.656C>T, NP_079433.3:p.Thr185Ile, NP_002850.2:p.Thr318Ile, NP_001074324.1:p.Thr352Ile, NP_001230685.1:p.Thr366Ile, NP_001372910.1:p.Thr842Ile, NP_001372911.1:p.Thr750Ile, NP_001372912.1:p.Thr748Ile, NP_001372913.1:p.Thr661Ile, NP_001372914.1:p.Thr613Ile, NP_001372915.1:p.Thr501Ile, NP_001372916.1:p.Thr455Ile, NP_001372917.1:p.Thr400Ile, NP_001372918.1:p.Thr350Ile, NP_001372919.1:p.Thr318Ile, XP_006719595.1:p.Thr890Ile, XP_016875228.1:p.Thr372Ile, XP_016875229.1:p.Thr358Ile, XP_016875231.1:p.Thr324Ile, XP_011536924.1:p.Thr757Ile, XP_047285192.1:p.Thr896Ile, XP_047285193.1:p.Thr562Ile, XP_047285194.1:p.Thr514Ile, XP_047285198.1:p.Thr367Ile, XP_047285199.1:p.Thr364Ile, XP_047285200.1:p.Thr353Ile, XP_047285201.1:p.Thr350Ile, XP_047285206.1:p.Thr316Ile, XP_047285205.1:p.Thr319Ile, XP_047285195.1:p.Thr503Ile, XP_047285196.1:p.Thr400Ile, XP_047285197.1:p.Thr398Ile, XP_047285207.1:p.Thr267Ile, XP_047285208.1:p.Thr233Ile, XP_047285202.1:p.Thr350Ile, XP_047285209.1:p.Thr219Ile

        4.

        rs1487944093 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:120222607 (GRCh38)
          12:120660410 (GRCh37)
          Canonical SPDI:
          NC_000012.12:120222606:C:T
          Gene:
          PXN (Varview), LOC124903034 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000043/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000012.12:g.120222607C>T, NC_000012.11:g.120660410C>T, NG_029820.1:g.48165G>A, NM_025157.5:c.238G>A, NM_025157.4:c.238G>A, NM_002859.4:c.637G>A, NM_002859.3:c.637G>A, NM_001080855.3:c.637G>A, NM_001080855.2:c.637G>A, NM_001243756.2:c.637G>A, NM_001243756.1:c.637G>A, NM_001385981.1:c.637G>A, NM_001385982.1:c.637G>A, NM_001385983.1:c.637G>A, NM_001385984.1:c.637G>A, NM_001385985.1:c.637G>A, NM_001385986.1:c.637G>A, NM_001385987.1:c.637G>A, NM_001385988.1:c.637G>A, NM_001385989.1:c.637G>A, NM_001385990.1:c.637G>A, XM_006719532.3:c.637G>A, XM_006719532.2:c.637G>A, XM_006719532.1:c.637G>A, XM_017019739.3:c.655G>A, XM_017019739.2:c.655G>A, XM_017019739.1:c.655G>A, XM_017019740.3:c.655G>A, XM_017019740.2:c.655G>A, XM_017019740.1:c.655G>A, XM_017019742.3:c.655G>A, XM_017019742.2:c.655G>A, XM_017019742.1:c.655G>A, XM_017019732.3:c.238G>A, XM_017019732.2:c.655G>A, XM_017019732.1:c.655G>A, XM_011538622.2:c.238G>A, XM_011538622.1:c.238G>A, XR_002957365.2:n.555G>A, XR_002957365.1:n.971G>A, NM_176827.1:c.-59696C>T, XM_047429236.1:c.655G>A, XR_007063486.1:n.2128C>T, XR_007063487.1:n.2128C>T, XM_047429237.1:c.238G>A, NM_001410986.1:c.631G>A, XM_047429238.1:c.238G>A, XM_047429242.1:c.640G>A, XM_047429243.1:c.631G>A, XM_047429244.1:c.640G>A, XM_047429245.1:c.631G>A, XM_047429250.1:c.631G>A, XM_047429249.1:c.640G>A, XM_047429239.1:c.637G>A, XM_047429240.1:c.637G>A, XM_047429241.1:c.637G>A, XM_047429251.1:c.238G>A, XM_047429252.1:c.238G>A, XM_047429246.1:c.637G>A, XM_047429253.1:c.238G>A, XM_047429248.1:c.637G>A, NP_079433.3:p.Val80Met, NP_002850.2:p.Val213Met, NP_001074324.1:p.Val213Met, NP_001230685.1:p.Val213Met, NP_001372910.1:p.Val213Met, NP_001372911.1:p.Val213Met, NP_001372912.1:p.Val213Met, NP_001372913.1:p.Val213Met, NP_001372914.1:p.Val213Met, NP_001372915.1:p.Val213Met, NP_001372916.1:p.Val213Met, NP_001372917.1:p.Val213Met, NP_001372918.1:p.Val213Met, NP_001372919.1:p.Val213Met, XP_006719595.1:p.Val213Met, XP_016875228.1:p.Val219Met, XP_016875229.1:p.Val219Met, XP_016875231.1:p.Val219Met, XP_016875221.2:p.Val80Met, XP_011536924.1:p.Val80Met, XP_047285192.1:p.Val219Met, XP_047285193.1:p.Val80Met, XP_047285194.1:p.Val80Met, XP_047285198.1:p.Val214Met, XP_047285199.1:p.Val211Met, XP_047285200.1:p.Val214Met, XP_047285201.1:p.Val211Met, XP_047285206.1:p.Val211Met, XP_047285205.1:p.Val214Met, XP_047285195.1:p.Val213Met, XP_047285196.1:p.Val213Met, XP_047285197.1:p.Val213Met, XP_047285207.1:p.Val80Met, XP_047285208.1:p.Val80Met, XP_047285202.1:p.Val213Met, XP_047285209.1:p.Val80Met, XP_047285204.1:p.Val213Met

          5.

          rs1487675290 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:120214829 (GRCh38)
            12:120652632 (GRCh37)
            Canonical SPDI:
            NC_000012.12:120214828:A:G
            Gene:
            PXN (Varview)
            Functional Consequence:
            downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.120214829A>G, NC_000012.11:g.120652632A>G, NG_029820.1:g.55943T>C, NM_025157.5:c.773T>C, NM_025157.4:c.773T>C, NM_002859.4:c.1172T>C, NM_002859.3:c.1172T>C, NM_001080855.3:c.1274T>C, NM_001080855.2:c.1274T>C, NM_001243756.2:c.1316T>C, NM_001243756.1:c.1316T>C, NM_001385981.1:c.2744T>C, NM_001385982.1:c.2468T>C, NM_001385983.1:c.2462T>C, NM_001385984.1:c.2201T>C, NM_001385985.1:c.2057T>C, NM_001385986.1:c.1721T>C, NM_001385987.1:c.1583T>C, NM_001385988.1:c.1418T>C, NM_001385989.1:c.1268T>C, NM_001385990.1:c.1172T>C, XM_006719532.3:c.2888T>C, XM_006719532.2:c.2888T>C, XM_006719532.1:c.2888T>C, XM_017019739.3:c.1334T>C, XM_017019739.2:c.1334T>C, XM_017019739.1:c.1334T>C, XM_017019740.3:c.1292T>C, XM_017019740.2:c.1292T>C, XM_017019740.1:c.1292T>C, XM_017019742.3:c.1190T>C, XM_017019742.2:c.1190T>C, XM_017019742.1:c.1190T>C, XM_011538622.2:c.2489T>C, XM_011538622.1:c.2489T>C, NM_176827.1:c.-67474A>G, XM_047429236.1:c.2906T>C, XM_047429237.1:c.1904T>C, NM_001410986.1:c.1268T>C, XM_047429238.1:c.1760T>C, XM_047429242.1:c.1319T>C, XM_047429243.1:c.1310T>C, XM_047429244.1:c.1277T>C, XM_047429245.1:c.1268T>C, XM_047429250.1:c.1166T>C, XM_047429249.1:c.1175T>C, XM_047429239.1:c.1727T>C, XM_047429240.1:c.1418T>C, XM_047429241.1:c.1412T>C, XM_047429251.1:c.1019T>C, XM_047429252.1:c.917T>C, XM_047429246.1:c.1268T>C, XM_047429253.1:c.875T>C, NP_079433.3:p.Leu258Pro, NP_002850.2:p.Leu391Pro, NP_001074324.1:p.Leu425Pro, NP_001230685.1:p.Leu439Pro, NP_001372910.1:p.Leu915Pro, NP_001372911.1:p.Leu823Pro, NP_001372912.1:p.Leu821Pro, NP_001372913.1:p.Leu734Pro, NP_001372914.1:p.Leu686Pro, NP_001372915.1:p.Leu574Pro, NP_001372916.1:p.Leu528Pro, NP_001372917.1:p.Leu473Pro, NP_001372918.1:p.Leu423Pro, NP_001372919.1:p.Leu391Pro, XP_006719595.1:p.Leu963Pro, XP_016875228.1:p.Leu445Pro, XP_016875229.1:p.Leu431Pro, XP_016875231.1:p.Leu397Pro, XP_011536924.1:p.Leu830Pro, XP_047285192.1:p.Leu969Pro, XP_047285193.1:p.Leu635Pro, XP_047285194.1:p.Leu587Pro, XP_047285198.1:p.Leu440Pro, XP_047285199.1:p.Leu437Pro, XP_047285200.1:p.Leu426Pro, XP_047285201.1:p.Leu423Pro, XP_047285206.1:p.Leu389Pro, XP_047285205.1:p.Leu392Pro, XP_047285195.1:p.Leu576Pro, XP_047285196.1:p.Leu473Pro, XP_047285197.1:p.Leu471Pro, XP_047285207.1:p.Leu340Pro, XP_047285208.1:p.Leu306Pro, XP_047285202.1:p.Leu423Pro, XP_047285209.1:p.Leu292Pro

            6.

            rs1487472575 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:120221631 (GRCh38)
              12:120659434 (GRCh37)
              Canonical SPDI:
              NC_000012.12:120221630:C:A
              Gene:
              PXN (Varview), LOC124903034 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000006/1 (GnomAD_exomes)
              HGVS:
              NC_000012.12:g.120221631C>A, NC_000012.11:g.120659434C>A, NG_029820.1:g.49141G>T, NM_025157.5:c.424G>T, NM_025157.4:c.424G>T, NM_002859.4:c.823G>T, NM_002859.3:c.823G>T, NM_001080855.3:c.823G>T, NM_001080855.2:c.823G>T, NM_001243756.2:c.823G>T, NM_001243756.1:c.823G>T, NM_001385981.1:c.823G>T, NM_001385982.1:c.823G>T, NM_001385983.1:c.823G>T, NM_001385984.1:c.823G>T, NM_001385985.1:c.823G>T, NM_001385986.1:c.823G>T, NM_001385987.1:c.823G>T, NM_001385988.1:c.823G>T, NM_001385989.1:c.823G>T, NM_001385990.1:c.823G>T, XM_006719532.3:c.823G>T, XM_006719532.2:c.823G>T, XM_006719532.1:c.823G>T, XM_017019739.3:c.841G>T, XM_017019739.2:c.841G>T, XM_017019739.1:c.841G>T, XM_017019740.3:c.841G>T, XM_017019740.2:c.841G>T, XM_017019740.1:c.841G>T, XM_017019742.3:c.841G>T, XM_017019742.2:c.841G>T, XM_017019742.1:c.841G>T, XM_017019732.3:c.424G>T, XM_017019732.2:c.841G>T, XM_017019732.1:c.841G>T, XM_011538622.2:c.424G>T, XM_011538622.1:c.424G>T, XR_002957365.2:n.741G>T, XR_002957365.1:n.1157G>T, NM_176827.1:c.-60672C>A, XM_047429236.1:c.841G>T, XR_007063486.1:n.1152C>A, XR_007063487.1:n.1152C>A, XM_047429237.1:c.424G>T, NM_001410986.1:c.817G>T, XM_047429238.1:c.424G>T, XM_047429242.1:c.826G>T, XM_047429243.1:c.817G>T, XM_047429244.1:c.826G>T, XM_047429245.1:c.817G>T, XM_047429250.1:c.817G>T, XM_047429249.1:c.826G>T, XM_047429239.1:c.823G>T, XM_047429240.1:c.823G>T, XM_047429241.1:c.823G>T, XM_047429251.1:c.424G>T, XM_047429252.1:c.424G>T, XM_047429246.1:c.823G>T, XM_047429253.1:c.424G>T, XM_047429248.1:c.823G>T, NP_079433.3:p.Asp142Tyr, NP_002850.2:p.Asp275Tyr, NP_001074324.1:p.Asp275Tyr, NP_001230685.1:p.Asp275Tyr, NP_001372910.1:p.Asp275Tyr, NP_001372911.1:p.Asp275Tyr, NP_001372912.1:p.Asp275Tyr, NP_001372913.1:p.Asp275Tyr, NP_001372914.1:p.Asp275Tyr, NP_001372915.1:p.Asp275Tyr, NP_001372916.1:p.Asp275Tyr, NP_001372917.1:p.Asp275Tyr, NP_001372918.1:p.Asp275Tyr, NP_001372919.1:p.Asp275Tyr, XP_006719595.1:p.Asp275Tyr, XP_016875228.1:p.Asp281Tyr, XP_016875229.1:p.Asp281Tyr, XP_016875231.1:p.Asp281Tyr, XP_016875221.2:p.Asp142Tyr, XP_011536924.1:p.Asp142Tyr, XP_047285192.1:p.Asp281Tyr, XP_047285193.1:p.Asp142Tyr, XP_047285194.1:p.Asp142Tyr, XP_047285198.1:p.Asp276Tyr, XP_047285199.1:p.Asp273Tyr, XP_047285200.1:p.Asp276Tyr, XP_047285201.1:p.Asp273Tyr, XP_047285206.1:p.Asp273Tyr, XP_047285205.1:p.Asp276Tyr, XP_047285195.1:p.Asp275Tyr, XP_047285196.1:p.Asp275Tyr, XP_047285197.1:p.Asp275Tyr, XP_047285207.1:p.Asp142Tyr, XP_047285208.1:p.Asp142Tyr, XP_047285202.1:p.Asp275Tyr, XP_047285209.1:p.Asp142Tyr, XP_047285204.1:p.Asp275Tyr

              7.

              rs1485748644 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:120216572 (GRCh38)
                12:120654375 (GRCh37)
                Canonical SPDI:
                NC_000012.12:120216571:G:A
                Gene:
                PXN (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000012.12:g.120216572G>A, NC_000012.11:g.120654375G>A, NG_029820.1:g.54200C>T, NM_001385981.1:c.2002C>T, NM_001385982.1:c.1726C>T, NM_001385983.1:c.1726C>T, NM_001385986.1:c.841C>T, NM_001385987.1:c.841C>T, XM_006719532.3:c.2002C>T, XM_006719532.2:c.2002C>T, XM_006719532.1:c.2002C>T, XM_017019732.3:c.1603C>T, XM_017019732.2:c.2020C>T, XM_017019732.1:c.2020C>T, XM_011538622.2:c.1603C>T, XM_011538622.1:c.1603C>T, XR_002957365.2:n.1920C>T, XR_002957365.1:n.2336C>T, NM_176827.1:c.-65731G>A, XM_047429236.1:c.2020C>T, XM_047429239.1:c.841C>T, XM_047429248.1:c.841C>T, NP_001372910.1:p.Pro668Ser, NP_001372911.1:p.Pro576Ser, NP_001372912.1:p.Pro576Ser, NP_001372915.1:p.Pro281Ser, NP_001372916.1:p.Pro281Ser, XP_006719595.1:p.Pro668Ser, XP_016875221.2:p.Pro535Ser, XP_011536924.1:p.Pro535Ser, XP_047285192.1:p.Pro674Ser, XP_047285195.1:p.Pro281Ser, XP_047285204.1:p.Pro281Ser

                8.

                rs1485469666 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:120219643 (GRCh38)
                  12:120657446 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:120219642:G:A
                  Gene:
                  PXN (Varview), LOC124903034 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000012.12:g.120219643G>A, NC_000012.11:g.120657446G>A, NG_029820.1:g.51129C>T, NM_001385981.1:c.1280C>T, NM_001385982.1:c.1280C>T, NM_001385983.1:c.1280C>T, NM_001385984.1:c.1280C>T, NM_001385985.1:c.1280C>T, XM_006719532.3:c.1280C>T, XM_006719532.2:c.1280C>T, XM_006719532.1:c.1280C>T, XM_017019732.3:c.881C>T, XM_017019732.2:c.1298C>T, XM_017019732.1:c.1298C>T, XM_011538622.2:c.881C>T, XM_011538622.1:c.881C>T, XR_002957365.2:n.1198C>T, XR_002957365.1:n.1614C>T, NM_176827.1:c.-62660G>A, XM_047429236.1:c.1298C>T, XM_047429237.1:c.881C>T, XM_047429238.1:c.881C>T, NP_001372910.1:p.Pro427Leu, NP_001372911.1:p.Pro427Leu, NP_001372912.1:p.Pro427Leu, NP_001372913.1:p.Pro427Leu, NP_001372914.1:p.Pro427Leu, XP_006719595.1:p.Pro427Leu, XP_016875221.2:p.Pro294Leu, XP_011536924.1:p.Pro294Leu, XP_047285192.1:p.Pro433Leu, XP_047285193.1:p.Pro294Leu, XP_047285194.1:p.Pro294Leu

                  9.

                  rs1485408205 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:120217081 (GRCh38)
                    12:120654884 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:120217080:G:A
                    Gene:
                    PXN (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1485135916 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:120219686 (GRCh38)
                      12:120657489 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:120219685:C:T
                      Gene:
                      PXN (Varview), LOC124903034 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                      HGVS:
                      NC_000012.12:g.120219686C>T, NC_000012.11:g.120657489C>T, NG_029820.1:g.51086G>A, NM_001385981.1:c.1237G>A, NM_001385982.1:c.1237G>A, NM_001385983.1:c.1237G>A, NM_001385984.1:c.1237G>A, NM_001385985.1:c.1237G>A, XM_006719532.3:c.1237G>A, XM_006719532.2:c.1237G>A, XM_006719532.1:c.1237G>A, XM_017019732.3:c.838G>A, XM_017019732.2:c.1255G>A, XM_017019732.1:c.1255G>A, XM_011538622.2:c.838G>A, XM_011538622.1:c.838G>A, XR_002957365.2:n.1155G>A, XR_002957365.1:n.1571G>A, NM_176827.1:c.-62617C>T, XM_047429236.1:c.1255G>A, XM_047429237.1:c.838G>A, XM_047429238.1:c.838G>A, NP_001372910.1:p.Glu413Lys, NP_001372911.1:p.Glu413Lys, NP_001372912.1:p.Glu413Lys, NP_001372913.1:p.Glu413Lys, NP_001372914.1:p.Glu413Lys, XP_006719595.1:p.Glu413Lys, XP_016875221.2:p.Glu280Lys, XP_011536924.1:p.Glu280Lys, XP_047285192.1:p.Glu419Lys, XP_047285193.1:p.Glu280Lys, XP_047285194.1:p.Glu280Lys

                      11.

                      rs1483459188 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        12:120219630 (GRCh38)
                        12:120657433 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:120219629:C:G,NC_000012.12:120219629:C:T
                        Gene:
                        PXN (Varview), LOC124903034 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.5/1 (SGDP_PRJ)
                        HGVS:
                        NC_000012.12:g.120219630C>G, NC_000012.12:g.120219630C>T, NC_000012.11:g.120657433C>G, NC_000012.11:g.120657433C>T, NG_029820.1:g.51142G>C, NG_029820.1:g.51142G>A, NM_001385981.1:c.1293G>C, NM_001385981.1:c.1293G>A, NM_001385982.1:c.1293G>C, NM_001385982.1:c.1293G>A, NM_001385983.1:c.1293G>C, NM_001385983.1:c.1293G>A, NM_001385984.1:c.1293G>C, NM_001385984.1:c.1293G>A, NM_001385985.1:c.1293G>C, NM_001385985.1:c.1293G>A, XM_006719532.3:c.1293G>C, XM_006719532.3:c.1293G>A, XM_006719532.2:c.1293G>C, XM_006719532.2:c.1293G>A, XM_006719532.1:c.1293G>C, XM_006719532.1:c.1293G>A, XM_017019732.3:c.894G>C, XM_017019732.3:c.894G>A, XM_017019732.2:c.1311G>C, XM_017019732.2:c.1311G>A, XM_017019732.1:c.1311G>C, XM_017019732.1:c.1311G>A, XM_011538622.2:c.894G>C, XM_011538622.2:c.894G>A, XM_011538622.1:c.894G>C, XM_011538622.1:c.894G>A, XR_002957365.2:n.1211G>C, XR_002957365.2:n.1211G>A, XR_002957365.1:n.1627G>C, XR_002957365.1:n.1627G>A, NM_176827.1:c.-62673C>G, NM_176827.1:c.-62673C>T, XM_047429236.1:c.1311G>C, XM_047429236.1:c.1311G>A, XM_047429237.1:c.894G>C, XM_047429237.1:c.894G>A, XM_047429238.1:c.894G>C, XM_047429238.1:c.894G>A, NP_001372910.1:p.Leu431Phe, NP_001372911.1:p.Leu431Phe, NP_001372912.1:p.Leu431Phe, NP_001372913.1:p.Leu431Phe, NP_001372914.1:p.Leu431Phe, XP_006719595.1:p.Leu431Phe, XP_016875221.2:p.Leu298Phe, XP_011536924.1:p.Leu298Phe, XP_047285192.1:p.Leu437Phe, XP_047285193.1:p.Leu298Phe, XP_047285194.1:p.Leu298Phe

                        12.

                        rs1482136995 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:120222670 (GRCh38)
                          12:120660473 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:120222669:C:T
                          Gene:
                          PXN (Varview), LOC124903034 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000012.12:g.120222670C>T, NC_000012.11:g.120660473C>T, NG_029820.1:g.48102G>A, NM_025157.5:c.175G>A, NM_025157.4:c.175G>A, NM_002859.4:c.574G>A, NM_002859.3:c.574G>A, NM_001080855.3:c.574G>A, NM_001080855.2:c.574G>A, NM_001243756.2:c.574G>A, NM_001243756.1:c.574G>A, NM_001385981.1:c.574G>A, NM_001385982.1:c.574G>A, NM_001385983.1:c.574G>A, NM_001385984.1:c.574G>A, NM_001385985.1:c.574G>A, NM_001385986.1:c.574G>A, NM_001385987.1:c.574G>A, NM_001385988.1:c.574G>A, NM_001385989.1:c.574G>A, NM_001385990.1:c.574G>A, XM_006719532.3:c.574G>A, XM_006719532.2:c.574G>A, XM_006719532.1:c.574G>A, XM_017019739.3:c.592G>A, XM_017019739.2:c.592G>A, XM_017019739.1:c.592G>A, XM_017019740.3:c.592G>A, XM_017019740.2:c.592G>A, XM_017019740.1:c.592G>A, XM_017019742.3:c.592G>A, XM_017019742.2:c.592G>A, XM_017019742.1:c.592G>A, XM_017019732.3:c.175G>A, XM_017019732.2:c.592G>A, XM_017019732.1:c.592G>A, XM_011538622.2:c.175G>A, XM_011538622.1:c.175G>A, XR_002957365.2:n.492G>A, XR_002957365.1:n.908G>A, NM_176827.1:c.-59633C>T, XM_047429236.1:c.592G>A, XR_007063486.1:n.2191C>T, XR_007063487.1:n.2191C>T, XM_047429237.1:c.175G>A, NM_001410986.1:c.568G>A, XM_047429238.1:c.175G>A, XM_047429242.1:c.577G>A, XM_047429243.1:c.568G>A, XM_047429244.1:c.577G>A, XM_047429245.1:c.568G>A, XM_047429250.1:c.568G>A, XM_047429249.1:c.577G>A, XM_047429239.1:c.574G>A, XM_047429240.1:c.574G>A, XM_047429241.1:c.574G>A, XM_047429251.1:c.175G>A, XM_047429252.1:c.175G>A, XM_047429246.1:c.574G>A, XM_047429253.1:c.175G>A, XM_047429248.1:c.574G>A, NP_079433.3:p.Gly59Ser, NP_002850.2:p.Gly192Ser, NP_001074324.1:p.Gly192Ser, NP_001230685.1:p.Gly192Ser, NP_001372910.1:p.Gly192Ser, NP_001372911.1:p.Gly192Ser, NP_001372912.1:p.Gly192Ser, NP_001372913.1:p.Gly192Ser, NP_001372914.1:p.Gly192Ser, NP_001372915.1:p.Gly192Ser, NP_001372916.1:p.Gly192Ser, NP_001372917.1:p.Gly192Ser, NP_001372918.1:p.Gly192Ser, NP_001372919.1:p.Gly192Ser, XP_006719595.1:p.Gly192Ser, XP_016875228.1:p.Gly198Ser, XP_016875229.1:p.Gly198Ser, XP_016875231.1:p.Gly198Ser, XP_016875221.2:p.Gly59Ser, XP_011536924.1:p.Gly59Ser, XP_047285192.1:p.Gly198Ser, XP_047285193.1:p.Gly59Ser, XP_047285194.1:p.Gly59Ser, XP_047285198.1:p.Gly193Ser, XP_047285199.1:p.Gly190Ser, XP_047285200.1:p.Gly193Ser, XP_047285201.1:p.Gly190Ser, XP_047285206.1:p.Gly190Ser, XP_047285205.1:p.Gly193Ser, XP_047285195.1:p.Gly192Ser, XP_047285196.1:p.Gly192Ser, XP_047285197.1:p.Gly192Ser, XP_047285207.1:p.Gly59Ser, XP_047285208.1:p.Gly59Ser, XP_047285202.1:p.Gly192Ser, XP_047285209.1:p.Gly59Ser, XP_047285204.1:p.Gly192Ser

                          13.

                          rs1481882940 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:120222657 (GRCh38)
                            12:120660460 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:120222656:G:A
                            Gene:
                            PXN (Varview), LOC124903034 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000012.12:g.120222657G>A, NC_000012.11:g.120660460G>A, NG_029820.1:g.48115C>T, NM_025157.5:c.188C>T, NM_025157.4:c.188C>T, NM_002859.4:c.587C>T, NM_002859.3:c.587C>T, NM_001080855.3:c.587C>T, NM_001080855.2:c.587C>T, NM_001243756.2:c.587C>T, NM_001243756.1:c.587C>T, NM_001385981.1:c.587C>T, NM_001385982.1:c.587C>T, NM_001385983.1:c.587C>T, NM_001385984.1:c.587C>T, NM_001385985.1:c.587C>T, NM_001385986.1:c.587C>T, NM_001385987.1:c.587C>T, NM_001385988.1:c.587C>T, NM_001385989.1:c.587C>T, NM_001385990.1:c.587C>T, XM_006719532.3:c.587C>T, XM_006719532.2:c.587C>T, XM_006719532.1:c.587C>T, XM_017019739.3:c.605C>T, XM_017019739.2:c.605C>T, XM_017019739.1:c.605C>T, XM_017019740.3:c.605C>T, XM_017019740.2:c.605C>T, XM_017019740.1:c.605C>T, XM_017019742.3:c.605C>T, XM_017019742.2:c.605C>T, XM_017019742.1:c.605C>T, XM_017019732.3:c.188C>T, XM_017019732.2:c.605C>T, XM_017019732.1:c.605C>T, XM_011538622.2:c.188C>T, XM_011538622.1:c.188C>T, XR_002957365.2:n.505C>T, XR_002957365.1:n.921C>T, NM_176827.1:c.-59646G>A, XM_047429236.1:c.605C>T, XR_007063486.1:n.2178G>A, XR_007063487.1:n.2178G>A, XM_047429237.1:c.188C>T, NM_001410986.1:c.581C>T, XM_047429238.1:c.188C>T, XM_047429242.1:c.590C>T, XM_047429243.1:c.581C>T, XM_047429244.1:c.590C>T, XM_047429245.1:c.581C>T, XM_047429250.1:c.581C>T, XM_047429249.1:c.590C>T, XM_047429239.1:c.587C>T, XM_047429240.1:c.587C>T, XM_047429241.1:c.587C>T, XM_047429251.1:c.188C>T, XM_047429252.1:c.188C>T, XM_047429246.1:c.587C>T, XM_047429253.1:c.188C>T, XM_047429248.1:c.587C>T, NP_079433.3:p.Pro63Leu, NP_002850.2:p.Pro196Leu, NP_001074324.1:p.Pro196Leu, NP_001230685.1:p.Pro196Leu, NP_001372910.1:p.Pro196Leu, NP_001372911.1:p.Pro196Leu, NP_001372912.1:p.Pro196Leu, NP_001372913.1:p.Pro196Leu, NP_001372914.1:p.Pro196Leu, NP_001372915.1:p.Pro196Leu, NP_001372916.1:p.Pro196Leu, NP_001372917.1:p.Pro196Leu, NP_001372918.1:p.Pro196Leu, NP_001372919.1:p.Pro196Leu, XP_006719595.1:p.Pro196Leu, XP_016875228.1:p.Pro202Leu, XP_016875229.1:p.Pro202Leu, XP_016875231.1:p.Pro202Leu, XP_016875221.2:p.Pro63Leu, XP_011536924.1:p.Pro63Leu, XP_047285192.1:p.Pro202Leu, XP_047285193.1:p.Pro63Leu, XP_047285194.1:p.Pro63Leu, XP_047285198.1:p.Pro197Leu, XP_047285199.1:p.Pro194Leu, XP_047285200.1:p.Pro197Leu, XP_047285201.1:p.Pro194Leu, XP_047285206.1:p.Pro194Leu, XP_047285205.1:p.Pro197Leu, XP_047285195.1:p.Pro196Leu, XP_047285196.1:p.Pro196Leu, XP_047285197.1:p.Pro196Leu, XP_047285207.1:p.Pro63Leu, XP_047285208.1:p.Pro63Leu, XP_047285202.1:p.Pro196Leu, XP_047285209.1:p.Pro63Leu, XP_047285204.1:p.Pro196Leu

                            14.

                            rs1480924395 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:120217012 (GRCh38)
                              12:120654815 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:120217011:G:A
                              Gene:
                              PXN (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                              HGVS:

                              15.

                              rs1480712644 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:120219670 (GRCh38)
                                12:120657473 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:120219669:T:C
                                Gene:
                                PXN (Varview), LOC124903034 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000012.12:g.120219670T>C, NC_000012.11:g.120657473T>C, NG_029820.1:g.51102A>G, NM_001385981.1:c.1253A>G, NM_001385982.1:c.1253A>G, NM_001385983.1:c.1253A>G, NM_001385984.1:c.1253A>G, NM_001385985.1:c.1253A>G, XM_006719532.3:c.1253A>G, XM_006719532.2:c.1253A>G, XM_006719532.1:c.1253A>G, XM_017019732.3:c.854A>G, XM_017019732.2:c.1271A>G, XM_017019732.1:c.1271A>G, XM_011538622.2:c.854A>G, XM_011538622.1:c.854A>G, XR_002957365.2:n.1171A>G, XR_002957365.1:n.1587A>G, NM_176827.1:c.-62633T>C, XM_047429236.1:c.1271A>G, XM_047429237.1:c.854A>G, XM_047429238.1:c.854A>G, NP_001372910.1:p.Gln418Arg, NP_001372911.1:p.Gln418Arg, NP_001372912.1:p.Gln418Arg, NP_001372913.1:p.Gln418Arg, NP_001372914.1:p.Gln418Arg, XP_006719595.1:p.Gln418Arg, XP_016875221.2:p.Gln285Arg, XP_011536924.1:p.Gln285Arg, XP_047285192.1:p.Gln424Arg, XP_047285193.1:p.Gln285Arg, XP_047285194.1:p.Gln285Arg

                                16.

                                rs1480668790 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  12:120214845 (GRCh38)
                                  12:120652648 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:120214844:A:C,NC_000012.12:120214844:A:G
                                  Gene:
                                  PXN (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.120214845A>C, NC_000012.12:g.120214845A>G, NC_000012.11:g.120652648A>C, NC_000012.11:g.120652648A>G, NG_029820.1:g.55927T>G, NG_029820.1:g.55927T>C, NM_025157.5:c.757T>G, NM_025157.5:c.757T>C, NM_025157.4:c.757T>G, NM_025157.4:c.757T>C, NM_002859.4:c.1156T>G, NM_002859.4:c.1156T>C, NM_002859.3:c.1156T>G, NM_002859.3:c.1156T>C, NM_001080855.3:c.1258T>G, NM_001080855.3:c.1258T>C, NM_001080855.2:c.1258T>G, NM_001080855.2:c.1258T>C, NM_001243756.2:c.1300T>G, NM_001243756.2:c.1300T>C, NM_001243756.1:c.1300T>G, NM_001243756.1:c.1300T>C, NM_001385981.1:c.2728T>G, NM_001385981.1:c.2728T>C, NM_001385982.1:c.2452T>G, NM_001385982.1:c.2452T>C, NM_001385983.1:c.2446T>G, NM_001385983.1:c.2446T>C, NM_001385984.1:c.2185T>G, NM_001385984.1:c.2185T>C, NM_001385985.1:c.2041T>G, NM_001385985.1:c.2041T>C, NM_001385986.1:c.1705T>G, NM_001385986.1:c.1705T>C, NM_001385987.1:c.1567T>G, NM_001385987.1:c.1567T>C, NM_001385988.1:c.1402T>G, NM_001385988.1:c.1402T>C, NM_001385989.1:c.1252T>G, NM_001385989.1:c.1252T>C, NM_001385990.1:c.1156T>G, NM_001385990.1:c.1156T>C, XM_006719532.3:c.2872T>G, XM_006719532.3:c.2872T>C, XM_006719532.2:c.2872T>G, XM_006719532.2:c.2872T>C, XM_006719532.1:c.2872T>G, XM_006719532.1:c.2872T>C, XM_017019739.3:c.1318T>G, XM_017019739.3:c.1318T>C, XM_017019739.2:c.1318T>G, XM_017019739.2:c.1318T>C, XM_017019739.1:c.1318T>G, XM_017019739.1:c.1318T>C, XM_017019740.3:c.1276T>G, XM_017019740.3:c.1276T>C, XM_017019740.2:c.1276T>G, XM_017019740.2:c.1276T>C, XM_017019740.1:c.1276T>G, XM_017019740.1:c.1276T>C, XM_017019742.3:c.1174T>G, XM_017019742.3:c.1174T>C, XM_017019742.2:c.1174T>G, XM_017019742.2:c.1174T>C, XM_017019742.1:c.1174T>G, XM_017019742.1:c.1174T>C, XM_011538622.2:c.2473T>G, XM_011538622.2:c.2473T>C, XM_011538622.1:c.2473T>G, XM_011538622.1:c.2473T>C, NM_176827.1:c.-67458A>C, NM_176827.1:c.-67458A>G, XM_047429236.1:c.2890T>G, XM_047429236.1:c.2890T>C, XM_047429237.1:c.1888T>G, XM_047429237.1:c.1888T>C, NM_001410986.1:c.1252T>G, NM_001410986.1:c.1252T>C, XM_047429238.1:c.1744T>G, XM_047429238.1:c.1744T>C, XM_047429242.1:c.1303T>G, XM_047429242.1:c.1303T>C, XM_047429243.1:c.1294T>G, XM_047429243.1:c.1294T>C, XM_047429244.1:c.1261T>G, XM_047429244.1:c.1261T>C, XM_047429245.1:c.1252T>G, XM_047429245.1:c.1252T>C, XM_047429250.1:c.1150T>G, XM_047429250.1:c.1150T>C, XM_047429249.1:c.1159T>G, XM_047429249.1:c.1159T>C, XM_047429239.1:c.1711T>G, XM_047429239.1:c.1711T>C, XM_047429240.1:c.1402T>G, XM_047429240.1:c.1402T>C, XM_047429241.1:c.1396T>G, XM_047429241.1:c.1396T>C, XM_047429251.1:c.1003T>G, XM_047429251.1:c.1003T>C, XM_047429252.1:c.901T>G, XM_047429252.1:c.901T>C, XM_047429246.1:c.1252T>G, XM_047429246.1:c.1252T>C, XM_047429253.1:c.859T>G, XM_047429253.1:c.859T>C, NP_079433.3:p.Cys253Gly, NP_079433.3:p.Cys253Arg, NP_002850.2:p.Cys386Gly, NP_002850.2:p.Cys386Arg, NP_001074324.1:p.Cys420Gly, NP_001074324.1:p.Cys420Arg, NP_001230685.1:p.Cys434Gly, NP_001230685.1:p.Cys434Arg, NP_001372910.1:p.Cys910Gly, NP_001372910.1:p.Cys910Arg, NP_001372911.1:p.Cys818Gly, NP_001372911.1:p.Cys818Arg, NP_001372912.1:p.Cys816Gly, NP_001372912.1:p.Cys816Arg, NP_001372913.1:p.Cys729Gly, NP_001372913.1:p.Cys729Arg, NP_001372914.1:p.Cys681Gly, NP_001372914.1:p.Cys681Arg, NP_001372915.1:p.Cys569Gly, NP_001372915.1:p.Cys569Arg, NP_001372916.1:p.Cys523Gly, NP_001372916.1:p.Cys523Arg, NP_001372917.1:p.Cys468Gly, NP_001372917.1:p.Cys468Arg, NP_001372918.1:p.Cys418Gly, NP_001372918.1:p.Cys418Arg, NP_001372919.1:p.Cys386Gly, NP_001372919.1:p.Cys386Arg, XP_006719595.1:p.Cys958Gly, XP_006719595.1:p.Cys958Arg, XP_016875228.1:p.Cys440Gly, XP_016875228.1:p.Cys440Arg, XP_016875229.1:p.Cys426Gly, XP_016875229.1:p.Cys426Arg, XP_016875231.1:p.Cys392Gly, XP_016875231.1:p.Cys392Arg, XP_011536924.1:p.Cys825Gly, XP_011536924.1:p.Cys825Arg, XP_047285192.1:p.Cys964Gly, XP_047285192.1:p.Cys964Arg, XP_047285193.1:p.Cys630Gly, XP_047285193.1:p.Cys630Arg, XP_047285194.1:p.Cys582Gly, XP_047285194.1:p.Cys582Arg, XP_047285198.1:p.Cys435Gly, XP_047285198.1:p.Cys435Arg, XP_047285199.1:p.Cys432Gly, XP_047285199.1:p.Cys432Arg, XP_047285200.1:p.Cys421Gly, XP_047285200.1:p.Cys421Arg, XP_047285201.1:p.Cys418Gly, XP_047285201.1:p.Cys418Arg, XP_047285206.1:p.Cys384Gly, XP_047285206.1:p.Cys384Arg, XP_047285205.1:p.Cys387Gly, XP_047285205.1:p.Cys387Arg, XP_047285195.1:p.Cys571Gly, XP_047285195.1:p.Cys571Arg, XP_047285196.1:p.Cys468Gly, XP_047285196.1:p.Cys468Arg, XP_047285197.1:p.Cys466Gly, XP_047285197.1:p.Cys466Arg, XP_047285207.1:p.Cys335Gly, XP_047285207.1:p.Cys335Arg, XP_047285208.1:p.Cys301Gly, XP_047285208.1:p.Cys301Arg, XP_047285202.1:p.Cys418Gly, XP_047285202.1:p.Cys418Arg, XP_047285209.1:p.Cys287Gly, XP_047285209.1:p.Cys287Arg

                                  17.

                                  rs1480269930 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AGAAGAAC>- [Show Flanks]
                                    Chromosome:
                                    12:120216405 (GRCh38)
                                    12:120654208 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:120216403:CAGAAGAAC:C
                                    Gene:
                                    PXN (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,non_coding_transcript_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.120216405_120216412del, NC_000012.11:g.120654208_120654215del, NG_029820.1:g.54361_54368del, NM_001385981.1:c.2163_2170del, NM_001385982.1:c.1887_1894del, NM_001385983.1:c.1887_1894del, NM_001385986.1:c.1002_1009del, NM_001385987.1:c.1002_1009del, XM_006719532.3:c.2163_2170del, XM_006719532.2:c.2163_2170del, XM_006719532.1:c.2163_2170del, XM_017019732.3:c.1764_1771del, XM_017019732.2:c.2181_2188del, XM_017019732.1:c.2181_2188del, XM_011538622.2:c.1764_1771del, XM_011538622.1:c.1764_1771del, XR_002957365.2:n.2081_2088del, XR_002957365.1:n.2497_2504del, NM_176827.1:c.-65898_-65891del, XM_047429236.1:c.2181_2188del, XM_047429239.1:c.1002_1009del, XM_047429248.1:c.1002_1009del, NP_001372910.1:p.Ser722fs, NP_001372911.1:p.Ser630fs, NP_001372912.1:p.Ser630fs, NP_001372915.1:p.Ser335fs, NP_001372916.1:p.Ser335fs, XP_006719595.1:p.Ser722fs, XP_016875221.2:p.Ser589fs, XP_011536924.1:p.Ser589fs, XP_047285192.1:p.Ser728fs, XP_047285195.1:p.Ser335fs, XP_047285204.1:p.Ser335fs

                                    18.

                                    rs1479948404 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      12:120223826 (GRCh38)
                                      12:120661629 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:120223825:G:A,NC_000012.12:120223825:G:T
                                      Gene:
                                      PXN (Varview), LOC124903034 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.120223826G>A, NC_000012.12:g.120223826G>T, NC_000012.11:g.120661629G>A, NC_000012.11:g.120661629G>T, NG_029820.1:g.46946C>T, NG_029820.1:g.46946C>A, NM_025157.5:c.-152C>T, NM_025157.5:c.-152C>A, NM_025157.4:c.-152C>T, NM_025157.4:c.-152C>A, NM_002859.4:c.248C>T, NM_002859.4:c.248C>A, NM_002859.3:c.248C>T, NM_002859.3:c.248C>A, NM_001080855.3:c.248C>T, NM_001080855.3:c.248C>A, NM_001080855.2:c.248C>T, NM_001080855.2:c.248C>A, NM_001243756.2:c.248C>T, NM_001243756.2:c.248C>A, NM_001243756.1:c.248C>T, NM_001243756.1:c.248C>A, NM_001385981.1:c.248C>T, NM_001385981.1:c.248C>A, NM_001385982.1:c.248C>T, NM_001385982.1:c.248C>A, NM_001385983.1:c.248C>T, NM_001385983.1:c.248C>A, NM_001385984.1:c.248C>T, NM_001385984.1:c.248C>A, NM_001385985.1:c.248C>T, NM_001385985.1:c.248C>A, NM_001385986.1:c.248C>T, NM_001385986.1:c.248C>A, NM_001385987.1:c.248C>T, NM_001385987.1:c.248C>A, NM_001385988.1:c.248C>T, NM_001385988.1:c.248C>A, NM_001385989.1:c.248C>T, NM_001385989.1:c.248C>A, NM_001385990.1:c.248C>T, NM_001385990.1:c.248C>A, XM_006719532.3:c.248C>T, XM_006719532.3:c.248C>A, XM_006719532.2:c.248C>T, XM_006719532.2:c.248C>A, XM_006719532.1:c.248C>T, XM_006719532.1:c.248C>A, XM_017019739.3:c.266C>T, XM_017019739.3:c.266C>A, XM_017019739.2:c.266C>T, XM_017019739.2:c.266C>A, XM_017019739.1:c.266C>T, XM_017019739.1:c.266C>A, XM_017019740.3:c.266C>T, XM_017019740.3:c.266C>A, XM_017019740.2:c.266C>T, XM_017019740.2:c.266C>A, XM_017019740.1:c.266C>T, XM_017019740.1:c.266C>A, XM_017019742.3:c.266C>T, XM_017019742.3:c.266C>A, XM_017019742.2:c.266C>T, XM_017019742.2:c.266C>A, XM_017019742.1:c.266C>T, XM_017019742.1:c.266C>A, XM_017019732.3:c.-152C>T, XM_017019732.3:c.-152C>A, XM_017019732.2:c.266C>T, XM_017019732.2:c.266C>A, XM_017019732.1:c.266C>T, XM_017019732.1:c.266C>A, XM_011538622.2:c.-152C>T, XM_011538622.2:c.-152C>A, XM_011538622.1:c.-152C>T, XM_011538622.1:c.-152C>A, XR_002957365.2:n.166C>T, XR_002957365.2:n.166C>A, XR_002957365.1:n.582C>T, XR_002957365.1:n.582C>A, NM_176827.1:c.-58477G>A, NM_176827.1:c.-58477G>T, XM_047429236.1:c.266C>T, XM_047429236.1:c.266C>A, XR_007063486.1:n.3347G>A, XR_007063486.1:n.3347G>T, XR_007063487.1:n.3347G>A, XR_007063487.1:n.3347G>T, XM_047429237.1:c.-152C>T, XM_047429237.1:c.-152C>A, NM_001410986.1:c.242C>T, NM_001410986.1:c.242C>A, XM_047429238.1:c.-152C>T, XM_047429238.1:c.-152C>A, XM_047429242.1:c.251C>T, XM_047429242.1:c.251C>A, XM_047429243.1:c.242C>T, XM_047429243.1:c.242C>A, XM_047429244.1:c.251C>T, XM_047429244.1:c.251C>A, XM_047429245.1:c.242C>T, XM_047429245.1:c.242C>A, XM_047429250.1:c.242C>T, XM_047429250.1:c.242C>A, XM_047429249.1:c.251C>T, XM_047429249.1:c.251C>A, XM_047429239.1:c.248C>T, XM_047429239.1:c.248C>A, XM_047429240.1:c.248C>T, XM_047429240.1:c.248C>A, XM_047429241.1:c.248C>T, XM_047429241.1:c.248C>A, XM_047429251.1:c.-152C>T, XM_047429251.1:c.-152C>A, XM_047429252.1:c.-152C>T, XM_047429252.1:c.-152C>A, XM_047429246.1:c.248C>T, XM_047429246.1:c.248C>A, XM_047429253.1:c.-152C>T, XM_047429253.1:c.-152C>A, XM_047429248.1:c.248C>T, XM_047429248.1:c.248C>A, NP_002850.2:p.Ser83Phe, NP_002850.2:p.Ser83Tyr, NP_001074324.1:p.Ser83Phe, NP_001074324.1:p.Ser83Tyr, NP_001230685.1:p.Ser83Phe, NP_001230685.1:p.Ser83Tyr, NP_001372910.1:p.Ser83Phe, NP_001372910.1:p.Ser83Tyr, NP_001372911.1:p.Ser83Phe, NP_001372911.1:p.Ser83Tyr, NP_001372912.1:p.Ser83Phe, NP_001372912.1:p.Ser83Tyr, NP_001372913.1:p.Ser83Phe, NP_001372913.1:p.Ser83Tyr, NP_001372914.1:p.Ser83Phe, NP_001372914.1:p.Ser83Tyr, NP_001372915.1:p.Ser83Phe, NP_001372915.1:p.Ser83Tyr, NP_001372916.1:p.Ser83Phe, NP_001372916.1:p.Ser83Tyr, NP_001372917.1:p.Ser83Phe, NP_001372917.1:p.Ser83Tyr, NP_001372918.1:p.Ser83Phe, NP_001372918.1:p.Ser83Tyr, NP_001372919.1:p.Ser83Phe, NP_001372919.1:p.Ser83Tyr, XP_006719595.1:p.Ser83Phe, XP_006719595.1:p.Ser83Tyr, XP_016875228.1:p.Ser89Phe, XP_016875228.1:p.Ser89Tyr, XP_016875229.1:p.Ser89Phe, XP_016875229.1:p.Ser89Tyr, XP_016875231.1:p.Ser89Phe, XP_016875231.1:p.Ser89Tyr, XP_047285192.1:p.Ser89Phe, XP_047285192.1:p.Ser89Tyr, XP_047285198.1:p.Ser84Phe, XP_047285198.1:p.Ser84Tyr, XP_047285199.1:p.Ser81Phe, XP_047285199.1:p.Ser81Tyr, XP_047285200.1:p.Ser84Phe, XP_047285200.1:p.Ser84Tyr, XP_047285201.1:p.Ser81Phe, XP_047285201.1:p.Ser81Tyr, XP_047285206.1:p.Ser81Phe, XP_047285206.1:p.Ser81Tyr, XP_047285205.1:p.Ser84Phe, XP_047285205.1:p.Ser84Tyr, XP_047285195.1:p.Ser83Phe, XP_047285195.1:p.Ser83Tyr, XP_047285196.1:p.Ser83Phe, XP_047285196.1:p.Ser83Tyr, XP_047285197.1:p.Ser83Phe, XP_047285197.1:p.Ser83Tyr, XP_047285202.1:p.Ser83Phe, XP_047285202.1:p.Ser83Tyr, XP_047285204.1:p.Ser83Phe, XP_047285204.1:p.Ser83Tyr

                                      19.

                                      rs1479181317 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:120212544 (GRCh38)
                                        12:120650347 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:120212543:C:T
                                        Gene:
                                        PXN (Varview), PXN-AS1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.120212544C>T, NC_000012.11:g.120650347C>T, NG_029820.1:g.58228G>A, NM_025157.5:c.1045G>A, NM_025157.4:c.1045G>A, NM_002859.4:c.1444G>A, NM_002859.3:c.1444G>A, NM_001080855.3:c.1546G>A, NM_001080855.2:c.1546G>A, NM_001243756.2:c.1588G>A, NM_001243756.1:c.1588G>A, NM_001385981.1:c.3016G>A, NM_001385982.1:c.2740G>A, NM_001385983.1:c.2734G>A, NM_001385984.1:c.2473G>A, NM_001385985.1:c.2329G>A, NM_001385986.1:c.1993G>A, NM_001385987.1:c.1855G>A, NM_001385988.1:c.*58G>A, NM_001385989.1:c.*58G>A, NM_001385990.1:c.*58G>A, XM_006719532.3:c.3160G>A, XM_006719532.2:c.3160G>A, XM_006719532.1:c.3160G>A, XM_017019739.3:c.1606G>A, XM_017019739.2:c.1606G>A, XM_017019739.1:c.1606G>A, XM_017019740.3:c.1564G>A, XM_017019740.2:c.1564G>A, XM_017019740.1:c.1564G>A, XM_017019742.3:c.1462G>A, XM_017019742.2:c.1462G>A, XM_017019742.1:c.1462G>A, XM_011538622.2:c.2761G>A, XM_011538622.1:c.2761G>A, NM_176827.1:c.-69759C>T, XM_047429236.1:c.3178G>A, XM_047429237.1:c.2176G>A, NM_001410986.1:c.1540G>A, XM_047429238.1:c.2032G>A, XM_047429242.1:c.1591G>A, XM_047429243.1:c.1582G>A, XM_047429244.1:c.1549G>A, XM_047429245.1:c.1540G>A, XM_047429250.1:c.1438G>A, XM_047429249.1:c.1447G>A, XM_047429239.1:c.1999G>A, XM_047429240.1:c.1690G>A, XM_047429241.1:c.1684G>A, XM_047429251.1:c.1291G>A, XM_047429252.1:c.1189G>A, XM_047429246.1:c.1540G>A, XM_047429253.1:c.1147G>A, NR_038924.1:n.479C>T, NP_079433.3:p.Glu349Lys, NP_002850.2:p.Glu482Lys, NP_001074324.1:p.Glu516Lys, NP_001230685.1:p.Glu530Lys, NP_001372910.1:p.Glu1006Lys, NP_001372911.1:p.Glu914Lys, NP_001372912.1:p.Glu912Lys, NP_001372913.1:p.Glu825Lys, NP_001372914.1:p.Glu777Lys, NP_001372915.1:p.Glu665Lys, NP_001372916.1:p.Glu619Lys, XP_006719595.1:p.Glu1054Lys, XP_016875228.1:p.Glu536Lys, XP_016875229.1:p.Glu522Lys, XP_016875231.1:p.Glu488Lys, XP_011536924.1:p.Glu921Lys, XP_047285192.1:p.Glu1060Lys, XP_047285193.1:p.Glu726Lys, XP_047285194.1:p.Glu678Lys, XP_047285198.1:p.Glu531Lys, XP_047285199.1:p.Glu528Lys, XP_047285200.1:p.Glu517Lys, XP_047285201.1:p.Glu514Lys, XP_047285206.1:p.Glu480Lys, XP_047285205.1:p.Glu483Lys, XP_047285195.1:p.Glu667Lys, XP_047285196.1:p.Glu564Lys, XP_047285197.1:p.Glu562Lys, XP_047285207.1:p.Glu431Lys, XP_047285208.1:p.Glu397Lys, XP_047285202.1:p.Glu514Lys, XP_047285209.1:p.Glu383Lys

                                        20.

                                        rs1478383210 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:120215307 (GRCh38)
                                          12:120653110 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:120215306:G:A
                                          Gene:
                                          PXN (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,synonymous_variant,stop_gained
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.0002/1 (ALFA)
                                          A=0.0002/1 (Estonian)
                                          HGVS:
                                          NC_000012.12:g.120215307G>A, NC_000012.11:g.120653110G>A, NG_029820.1:g.55465C>T, NM_001243756.2:c.942C>T, NM_001243756.1:c.942C>T, NM_001385984.1:c.1827C>T, NM_001385986.1:c.1347C>T, NM_001385988.1:c.1044C>T, XM_006719532.3:c.2514C>T, XM_006719532.2:c.2514C>T, XM_006719532.1:c.2514C>T, XM_017019739.3:c.960C>T, XM_017019739.2:c.960C>T, XM_017019739.1:c.960C>T, XM_017019732.3:c.2458C>T, XM_017019732.2:c.2875C>T, XM_017019732.1:c.2875C>T, XM_011538622.2:c.2115C>T, XM_011538622.1:c.2115C>T, NM_176827.1:c.-66996G>A, XM_047429236.1:c.2532C>T, XM_047429237.1:c.1530C>T, XM_047429242.1:c.945C>T, XM_047429243.1:c.936C>T, XM_047429239.1:c.1353C>T, XM_047429240.1:c.1044C>T, XM_047429241.1:c.1038C>T, XM_047429251.1:c.645C>T, XM_047429252.1:c.543C>T, XM_047429248.1:c.1696C>T, XP_016875221.2:p.Gln820Ter, XP_047285204.1:p.Gln566Ter

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