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Items: 1 to 20 of 373

1.

rs1489674914 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:179819888 (GRCh38)
    3:179537676 (GRCh37)
    Canonical SPDI:
    NC_000003.12:179819887:T:C
    Gene:
    PEX5L (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.179819888T>C, NC_000003.11:g.179537676T>C, XM_011512891.3:c.335A>G, XM_011512891.2:c.335A>G, XM_011512891.1:c.335A>G, NM_016559.3:c.911A>G, NM_016559.2:c.911A>G, XM_011512888.3:c.821A>G, XM_011512888.2:c.821A>G, XM_011512888.1:c.821A>G, NM_001349388.2:c.983A>G, NM_001349388.1:c.983A>G, NM_001349392.2:c.878A>G, NM_001349392.1:c.878A>G, NM_001349397.2:c.683A>G, NM_001349397.1:c.683A>G, XM_024453590.2:c.1142A>G, XM_024453590.1:c.1142A>G, XM_024453591.2:c.1049A>G, XM_024453591.1:c.1049A>G, NM_001349389.2:c.977A>G, NM_001349389.1:c.977A>G, NM_001349386.2:c.1076A>G, NM_001349386.1:c.1076A>G, NM_001349387.2:c.983A>G, NM_001349387.1:c.983A>G, NM_001256750.2:c.905A>G, NM_001256750.1:c.905A>G, NM_001256751.2:c.839A>G, NM_001256751.1:c.839A>G, NM_001349390.2:c.971A>G, NM_001349390.1:c.971A>G, NM_001349393.2:c.878A>G, NM_001349393.1:c.878A>G, NM_001349408.2:c.335A>G, NM_001349408.1:c.335A>G, NM_001256752.2:c.806A>G, NM_001256752.1:c.806A>G, XM_024453592.2:c.947A>G, XM_024453592.1:c.947A>G, NM_001349395.2:c.782A>G, NM_001349395.1:c.782A>G, NM_001256754.2:c.782A>G, NM_001256754.1:c.782A>G, NM_001256753.2:c.734A>G, NM_001256753.1:c.734A>G, NM_001349391.2:c.881A>G, NM_001349391.1:c.881A>G, NM_001349399.2:c.335A>G, NM_001349399.1:c.335A>G, NM_001349394.2:c.788A>G, NM_001349394.1:c.788A>G, NM_001349396.2:c.710A>G, NM_001349396.1:c.710A>G, NM_001349406.2:c.335A>G, NM_001349406.1:c.335A>G, NM_001256756.2:c.335A>G, NM_001256756.1:c.335A>G, NR_146167.2:n.991A>G, NR_146167.1:n.986A>G, NM_001349409.2:c.335A>G, NM_001349409.1:c.335A>G, NM_001349398.2:c.644A>G, NM_001349398.1:c.644A>G, XM_024453593.2:c.776A>G, XM_024453593.1:c.776A>G, NM_001349401.2:c.335A>G, NM_001349401.1:c.335A>G, NM_001256755.2:c.587A>G, NM_001256755.1:c.587A>G, NM_001349410.2:c.335A>G, NM_001349410.1:c.335A>G, NM_001349404.2:c.335A>G, NM_001349404.1:c.335A>G, XM_047448297.1:c.716A>G, XM_047448298.1:c.611A>G, XM_047448299.1:c.539A>G, XP_011511193.1:p.Asn112Ser, NP_057643.1:p.Asn304Ser, XP_011511190.1:p.Asn274Ser, NP_001336317.1:p.Asn328Ser, NP_001336321.1:p.Asn293Ser, NP_001336326.1:p.Asn228Ser, XP_024309358.1:p.Asn381Ser, XP_024309359.1:p.Asn350Ser, NP_001336318.1:p.Asn326Ser, NP_001336315.1:p.Asn359Ser, NP_001336316.1:p.Asn328Ser, NP_001243679.1:p.Asn302Ser, NP_001243680.1:p.Asn280Ser, NP_001336319.1:p.Asn324Ser, NP_001336322.1:p.Asn293Ser, NP_001336337.1:p.Asn112Ser, NP_001243681.1:p.Asn269Ser, XP_024309360.1:p.Asn316Ser, NP_001336324.1:p.Asn261Ser, NP_001243683.1:p.Asn261Ser, NP_001243682.1:p.Asn245Ser, NP_001336320.1:p.Asn294Ser, NP_001336328.1:p.Asn112Ser, NP_001336323.1:p.Asn263Ser, NP_001336325.1:p.Asn237Ser, NP_001336335.1:p.Asn112Ser, NP_001243685.1:p.Asn112Ser, NP_001336338.1:p.Asn112Ser, NP_001336327.1:p.Asn215Ser, XP_024309361.1:p.Asn259Ser, NP_001336330.1:p.Asn112Ser, NP_001243684.1:p.Asn196Ser, NP_001336339.1:p.Asn112Ser, NP_001336333.1:p.Asn112Ser, XP_047304253.1:p.Asn239Ser, XP_047304254.1:p.Asn204Ser, XP_047304255.1:p.Asn180Ser

    2.

    rs1487634891 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:179809509 (GRCh38)
      3:179527297 (GRCh37)
      Canonical SPDI:
      NC_000003.12:179809508:T:C
      Gene:
      PEX5L (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000003.12:g.179809509T>C, NC_000003.11:g.179527297T>C, XM_011512891.3:c.738A>G, XM_011512891.2:c.738A>G, XM_011512891.1:c.738A>G, NM_016559.3:c.1314A>G, NM_016559.2:c.1314A>G, XM_011512888.3:c.1224A>G, XM_011512888.2:c.1224A>G, XM_011512888.1:c.1224A>G, NM_001349388.2:c.1386A>G, NM_001349388.1:c.1386A>G, NM_001349392.2:c.1281A>G, NM_001349392.1:c.1281A>G, NM_001349397.2:c.1086A>G, NM_001349397.1:c.1086A>G, XM_024453590.2:c.1545A>G, XM_024453590.1:c.1545A>G, XM_024453591.2:c.1452A>G, XM_024453591.1:c.1452A>G, NM_001349389.2:c.1380A>G, NM_001349389.1:c.1380A>G, NM_001349386.2:c.1479A>G, NM_001349386.1:c.1479A>G, NM_001349387.2:c.1386A>G, NM_001349387.1:c.1386A>G, NM_001256750.2:c.1308A>G, NM_001256750.1:c.1308A>G, NM_001256751.2:c.1242A>G, NM_001256751.1:c.1242A>G, NM_001349390.2:c.1374A>G, NM_001349390.1:c.1374A>G, NM_001349393.2:c.1281A>G, NM_001349393.1:c.1281A>G, NM_001349408.2:c.738A>G, NM_001349408.1:c.738A>G, NM_001256752.2:c.1209A>G, NM_001256752.1:c.1209A>G, XM_024453592.2:c.1350A>G, XM_024453592.1:c.1350A>G, NM_001349395.2:c.1185A>G, NM_001349395.1:c.1185A>G, NM_001256754.2:c.1185A>G, NM_001256754.1:c.1185A>G, NM_001256753.2:c.1137A>G, NM_001256753.1:c.1137A>G, NM_001349391.2:c.1284A>G, NM_001349391.1:c.1284A>G, NM_001349399.2:c.738A>G, NM_001349399.1:c.738A>G, NM_001349394.2:c.1191A>G, NM_001349394.1:c.1191A>G, NM_001349396.2:c.1113A>G, NM_001349396.1:c.1113A>G, NM_001349406.2:c.738A>G, NM_001349406.1:c.738A>G, NM_001256756.2:c.738A>G, NM_001256756.1:c.738A>G, NR_146167.2:n.1394A>G, NR_146167.1:n.1389A>G, NM_001349409.2:c.738A>G, NM_001349409.1:c.738A>G, NM_001349398.2:c.1047A>G, NM_001349398.1:c.1047A>G, XM_024453593.2:c.1179A>G, XM_024453593.1:c.1179A>G, NM_001349401.2:c.738A>G, NM_001349401.1:c.738A>G, NM_001256755.2:c.990A>G, NM_001256755.1:c.990A>G, NM_001349410.2:c.738A>G, NM_001349410.1:c.738A>G, NM_001349404.2:c.738A>G, NM_001349404.1:c.738A>G, XM_047448297.1:c.1119A>G, XM_047448298.1:c.1014A>G, XM_047448299.1:c.942A>G

      3.

      rs1487286014 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:179808319 (GRCh38)
        3:179526107 (GRCh37)
        Canonical SPDI:
        NC_000003.12:179808318:T:C
        Gene:
        PEX5L (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.179808319T>C, NC_000003.11:g.179526107T>C, XM_011512891.3:c.895A>G, XM_011512891.2:c.895A>G, XM_011512891.1:c.895A>G, NM_016559.3:c.1471A>G, NM_016559.2:c.1471A>G, XM_011512888.3:c.1381A>G, XM_011512888.2:c.1381A>G, XM_011512888.1:c.1381A>G, NM_001349388.2:c.1543A>G, NM_001349388.1:c.1543A>G, NM_001349392.2:c.1438A>G, NM_001349392.1:c.1438A>G, NM_001349397.2:c.1243A>G, NM_001349397.1:c.1243A>G, XM_024453590.2:c.1702A>G, XM_024453590.1:c.1702A>G, XM_024453591.2:c.1609A>G, XM_024453591.1:c.1609A>G, NM_001349389.2:c.1537A>G, NM_001349389.1:c.1537A>G, NM_001349386.2:c.1636A>G, NM_001349386.1:c.1636A>G, NM_001349387.2:c.1543A>G, NM_001349387.1:c.1543A>G, NM_001256750.2:c.1465A>G, NM_001256750.1:c.1465A>G, NM_001256751.2:c.1399A>G, NM_001256751.1:c.1399A>G, NM_001349390.2:c.1531A>G, NM_001349390.1:c.1531A>G, NM_001349393.2:c.1438A>G, NM_001349393.1:c.1438A>G, NM_001349408.2:c.895A>G, NM_001349408.1:c.895A>G, NM_001256752.2:c.1366A>G, NM_001256752.1:c.1366A>G, XM_024453592.2:c.1507A>G, XM_024453592.1:c.1507A>G, NM_001349395.2:c.1342A>G, NM_001349395.1:c.1342A>G, NM_001256754.2:c.1342A>G, NM_001256754.1:c.1342A>G, NM_001256753.2:c.1294A>G, NM_001256753.1:c.1294A>G, NM_001349391.2:c.1441A>G, NM_001349391.1:c.1441A>G, NM_001349399.2:c.895A>G, NM_001349399.1:c.895A>G, NM_001349394.2:c.1348A>G, NM_001349394.1:c.1348A>G, NM_001349396.2:c.1270A>G, NM_001349396.1:c.1270A>G, NM_001349406.2:c.895A>G, NM_001349406.1:c.895A>G, NM_001256756.2:c.895A>G, NM_001256756.1:c.895A>G, NR_146167.2:n.1551A>G, NR_146167.1:n.1546A>G, NM_001349409.2:c.895A>G, NM_001349409.1:c.895A>G, NM_001349398.2:c.1204A>G, NM_001349398.1:c.1204A>G, XM_024453593.2:c.1336A>G, XM_024453593.1:c.1336A>G, NM_001349401.2:c.895A>G, NM_001349401.1:c.895A>G, NM_001256755.2:c.1147A>G, NM_001256755.1:c.1147A>G, NM_001349410.2:c.895A>G, NM_001349410.1:c.895A>G, NM_001349404.2:c.895A>G, NM_001349404.1:c.895A>G, XM_047448297.1:c.1276A>G, XM_047448298.1:c.1171A>G, XM_047448299.1:c.1099A>G, XP_011511193.1:p.Asn299Asp, NP_057643.1:p.Asn491Asp, XP_011511190.1:p.Asn461Asp, NP_001336317.1:p.Asn515Asp, NP_001336321.1:p.Asn480Asp, NP_001336326.1:p.Asn415Asp, XP_024309358.1:p.Asn568Asp, XP_024309359.1:p.Asn537Asp, NP_001336318.1:p.Asn513Asp, NP_001336315.1:p.Asn546Asp, NP_001336316.1:p.Asn515Asp, NP_001243679.1:p.Asn489Asp, NP_001243680.1:p.Asn467Asp, NP_001336319.1:p.Asn511Asp, NP_001336322.1:p.Asn480Asp, NP_001336337.1:p.Asn299Asp, NP_001243681.1:p.Asn456Asp, XP_024309360.1:p.Asn503Asp, NP_001336324.1:p.Asn448Asp, NP_001243683.1:p.Asn448Asp, NP_001243682.1:p.Asn432Asp, NP_001336320.1:p.Asn481Asp, NP_001336328.1:p.Asn299Asp, NP_001336323.1:p.Asn450Asp, NP_001336325.1:p.Asn424Asp, NP_001336335.1:p.Asn299Asp, NP_001243685.1:p.Asn299Asp, NP_001336338.1:p.Asn299Asp, NP_001336327.1:p.Asn402Asp, XP_024309361.1:p.Asn446Asp, NP_001336330.1:p.Asn299Asp, NP_001243684.1:p.Asn383Asp, NP_001336339.1:p.Asn299Asp, NP_001336333.1:p.Asn299Asp, XP_047304253.1:p.Asn426Asp, XP_047304254.1:p.Asn391Asp, XP_047304255.1:p.Asn367Asp

        4.

        rs1486408321 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:179819895 (GRCh38)
          3:179537683 (GRCh37)
          Canonical SPDI:
          NC_000003.12:179819894:C:T
          Gene:
          PEX5L (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=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000003.12:g.179819895C>T, NC_000003.11:g.179537683C>T, XM_011512891.3:c.328G>A, XM_011512891.2:c.328G>A, XM_011512891.1:c.328G>A, NM_016559.3:c.904G>A, NM_016559.2:c.904G>A, XM_011512888.3:c.814G>A, XM_011512888.2:c.814G>A, XM_011512888.1:c.814G>A, NM_001349388.2:c.976G>A, NM_001349388.1:c.976G>A, NM_001349392.2:c.871G>A, NM_001349392.1:c.871G>A, NM_001349397.2:c.676G>A, NM_001349397.1:c.676G>A, XM_024453590.2:c.1135G>A, XM_024453590.1:c.1135G>A, XM_024453591.2:c.1042G>A, XM_024453591.1:c.1042G>A, NM_001349389.2:c.970G>A, NM_001349389.1:c.970G>A, NM_001349386.2:c.1069G>A, NM_001349386.1:c.1069G>A, NM_001349387.2:c.976G>A, NM_001349387.1:c.976G>A, NM_001256750.2:c.898G>A, NM_001256750.1:c.898G>A, NM_001256751.2:c.832G>A, NM_001256751.1:c.832G>A, NM_001349390.2:c.964G>A, NM_001349390.1:c.964G>A, NM_001349393.2:c.871G>A, NM_001349393.1:c.871G>A, NM_001349408.2:c.328G>A, NM_001349408.1:c.328G>A, NM_001256752.2:c.799G>A, NM_001256752.1:c.799G>A, XM_024453592.2:c.940G>A, XM_024453592.1:c.940G>A, NM_001349395.2:c.775G>A, NM_001349395.1:c.775G>A, NM_001256754.2:c.775G>A, NM_001256754.1:c.775G>A, NM_001256753.2:c.727G>A, NM_001256753.1:c.727G>A, NM_001349391.2:c.874G>A, NM_001349391.1:c.874G>A, NM_001349399.2:c.328G>A, NM_001349399.1:c.328G>A, NM_001349394.2:c.781G>A, NM_001349394.1:c.781G>A, NM_001349396.2:c.703G>A, NM_001349396.1:c.703G>A, NM_001349406.2:c.328G>A, NM_001349406.1:c.328G>A, NM_001256756.2:c.328G>A, NM_001256756.1:c.328G>A, NR_146167.2:n.984G>A, NR_146167.1:n.979G>A, NM_001349409.2:c.328G>A, NM_001349409.1:c.328G>A, NM_001349398.2:c.637G>A, NM_001349398.1:c.637G>A, XM_024453593.2:c.769G>A, XM_024453593.1:c.769G>A, NM_001349401.2:c.328G>A, NM_001349401.1:c.328G>A, NM_001256755.2:c.580G>A, NM_001256755.1:c.580G>A, NM_001349410.2:c.328G>A, NM_001349410.1:c.328G>A, NM_001349404.2:c.328G>A, NM_001349404.1:c.328G>A, XM_047448297.1:c.709G>A, XM_047448298.1:c.604G>A, XM_047448299.1:c.532G>A, XP_011511193.1:p.Ala110Thr, NP_057643.1:p.Ala302Thr, XP_011511190.1:p.Ala272Thr, NP_001336317.1:p.Ala326Thr, NP_001336321.1:p.Ala291Thr, NP_001336326.1:p.Ala226Thr, XP_024309358.1:p.Ala379Thr, XP_024309359.1:p.Ala348Thr, NP_001336318.1:p.Ala324Thr, NP_001336315.1:p.Ala357Thr, NP_001336316.1:p.Ala326Thr, NP_001243679.1:p.Ala300Thr, NP_001243680.1:p.Ala278Thr, NP_001336319.1:p.Ala322Thr, NP_001336322.1:p.Ala291Thr, NP_001336337.1:p.Ala110Thr, NP_001243681.1:p.Ala267Thr, XP_024309360.1:p.Ala314Thr, NP_001336324.1:p.Ala259Thr, NP_001243683.1:p.Ala259Thr, NP_001243682.1:p.Ala243Thr, NP_001336320.1:p.Ala292Thr, NP_001336328.1:p.Ala110Thr, NP_001336323.1:p.Ala261Thr, NP_001336325.1:p.Ala235Thr, NP_001336335.1:p.Ala110Thr, NP_001243685.1:p.Ala110Thr, NP_001336338.1:p.Ala110Thr, NP_001336327.1:p.Ala213Thr, XP_024309361.1:p.Ala257Thr, NP_001336330.1:p.Ala110Thr, NP_001243684.1:p.Ala194Thr, NP_001336339.1:p.Ala110Thr, NP_001336333.1:p.Ala110Thr, XP_047304253.1:p.Ala237Thr, XP_047304254.1:p.Ala202Thr, XP_047304255.1:p.Ala178Thr

          5.

          rs1479712203 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:179807756 (GRCh38)
            3:179525544 (GRCh37)
            Canonical SPDI:
            NC_000003.12:179807755:T:C
            Gene:
            PEX5L (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000003.12:g.179807756T>C, NC_000003.11:g.179525544T>C, XM_011512891.3:c.1018A>G, XM_011512891.2:c.1018A>G, XM_011512891.1:c.1018A>G, NM_016559.3:c.1594A>G, NM_016559.2:c.1594A>G, XM_011512888.3:c.1504A>G, XM_011512888.2:c.1504A>G, XM_011512888.1:c.1504A>G, NM_001349388.2:c.1666A>G, NM_001349388.1:c.1666A>G, NM_001349392.2:c.1561A>G, NM_001349392.1:c.1561A>G, NM_001349397.2:c.1366A>G, NM_001349397.1:c.1366A>G, XM_024453590.2:c.1825A>G, XM_024453590.1:c.1825A>G, XM_024453591.2:c.1732A>G, XM_024453591.1:c.1732A>G, NM_001349389.2:c.1660A>G, NM_001349389.1:c.1660A>G, NM_001349386.2:c.1759A>G, NM_001349386.1:c.1759A>G, NM_001349387.2:c.1666A>G, NM_001349387.1:c.1666A>G, NM_001256750.2:c.1588A>G, NM_001256750.1:c.1588A>G, NM_001256751.2:c.1522A>G, NM_001256751.1:c.1522A>G, NM_001349390.2:c.1654A>G, NM_001349390.1:c.1654A>G, NM_001349393.2:c.1561A>G, NM_001349393.1:c.1561A>G, NM_001349408.2:c.1018A>G, NM_001349408.1:c.1018A>G, NM_001256752.2:c.1489A>G, NM_001256752.1:c.1489A>G, XM_024453592.2:c.1630A>G, XM_024453592.1:c.1630A>G, NM_001349395.2:c.1465A>G, NM_001349395.1:c.1465A>G, NM_001256754.2:c.1465A>G, NM_001256754.1:c.1465A>G, NM_001256753.2:c.1417A>G, NM_001256753.1:c.1417A>G, NM_001349391.2:c.1564A>G, NM_001349391.1:c.1564A>G, NM_001349399.2:c.1018A>G, NM_001349399.1:c.1018A>G, NM_001349394.2:c.1471A>G, NM_001349394.1:c.1471A>G, NM_001349396.2:c.1393A>G, NM_001349396.1:c.1393A>G, NM_001349406.2:c.1018A>G, NM_001349406.1:c.1018A>G, NM_001256756.2:c.1018A>G, NM_001256756.1:c.1018A>G, NR_146167.2:n.1674A>G, NR_146167.1:n.1669A>G, NM_001349409.2:c.1018A>G, NM_001349409.1:c.1018A>G, NM_001349398.2:c.1327A>G, NM_001349398.1:c.1327A>G, XM_024453593.2:c.1459A>G, XM_024453593.1:c.1459A>G, NM_001349401.2:c.1018A>G, NM_001349401.1:c.1018A>G, NM_001256755.2:c.1270A>G, NM_001256755.1:c.1270A>G, NM_001349410.2:c.1018A>G, NM_001349410.1:c.1018A>G, NM_001349404.2:c.1018A>G, NM_001349404.1:c.1018A>G, XM_047448297.1:c.1399A>G, XM_047448298.1:c.1294A>G, XM_047448299.1:c.1222A>G, XP_011511193.1:p.Thr340Ala, NP_057643.1:p.Thr532Ala, XP_011511190.1:p.Thr502Ala, NP_001336317.1:p.Thr556Ala, NP_001336321.1:p.Thr521Ala, NP_001336326.1:p.Thr456Ala, XP_024309358.1:p.Thr609Ala, XP_024309359.1:p.Thr578Ala, NP_001336318.1:p.Thr554Ala, NP_001336315.1:p.Thr587Ala, NP_001336316.1:p.Thr556Ala, NP_001243679.1:p.Thr530Ala, NP_001243680.1:p.Thr508Ala, NP_001336319.1:p.Thr552Ala, NP_001336322.1:p.Thr521Ala, NP_001336337.1:p.Thr340Ala, NP_001243681.1:p.Thr497Ala, XP_024309360.1:p.Thr544Ala, NP_001336324.1:p.Thr489Ala, NP_001243683.1:p.Thr489Ala, NP_001243682.1:p.Thr473Ala, NP_001336320.1:p.Thr522Ala, NP_001336328.1:p.Thr340Ala, NP_001336323.1:p.Thr491Ala, NP_001336325.1:p.Thr465Ala, NP_001336335.1:p.Thr340Ala, NP_001243685.1:p.Thr340Ala, NP_001336338.1:p.Thr340Ala, NP_001336327.1:p.Thr443Ala, XP_024309361.1:p.Thr487Ala, NP_001336330.1:p.Thr340Ala, NP_001243684.1:p.Thr424Ala, NP_001336339.1:p.Thr340Ala, NP_001336333.1:p.Thr340Ala, XP_047304253.1:p.Thr467Ala, XP_047304254.1:p.Thr432Ala, XP_047304255.1:p.Thr408Ala

            6.

            rs1478554721 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              3:179887756 (GRCh38)
              3:179605544 (GRCh37)
              Canonical SPDI:
              NC_000003.12:179887755:G:T
              Gene:
              PEX5L (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.179887756G>T, NC_000003.11:g.179605544G>T, XM_011512891.3:c.-350C>A, XM_011512891.2:c.-350C>A, XM_011512891.1:c.-350C>A, NM_016559.3:c.227C>A, NM_016559.2:c.227C>A, XM_011512888.3:c.137C>A, XM_011512888.2:c.137C>A, XM_011512888.1:c.137C>A, NM_001349388.2:c.299C>A, NM_001349388.1:c.299C>A, NM_001349392.2:c.194C>A, NM_001349392.1:c.194C>A, NM_001349397.2:c.194C>A, NM_001349397.1:c.194C>A, XM_024453590.2:c.458C>A, XM_024453590.1:c.458C>A, XM_024453591.2:c.365C>A, XM_024453591.1:c.365C>A, NM_001349389.2:c.293C>A, NM_001349389.1:c.293C>A, NM_001349386.2:c.392C>A, NM_001349386.1:c.392C>A, NM_001349387.2:c.299C>A, NM_001349387.1:c.299C>A, NM_001256750.2:c.221C>A, NM_001256750.1:c.221C>A, NM_001256751.2:c.155C>A, NM_001256751.1:c.155C>A, NM_001349390.2:c.287C>A, NM_001349390.1:c.287C>A, NM_001349393.2:c.194C>A, NM_001349393.1:c.194C>A, NM_001256752.2:c.122C>A, NM_001256752.1:c.122C>A, XM_024453592.2:c.458C>A, XM_024453592.1:c.458C>A, NM_001349395.2:c.98C>A, NM_001349395.1:c.98C>A, NM_001256754.2:c.98C>A, NM_001256754.1:c.98C>A, NM_001256753.2:c.50C>A, NM_001256753.1:c.50C>A, NM_001349391.2:c.392C>A, NM_001349391.1:c.392C>A, NM_001349394.2:c.299C>A, NM_001349394.1:c.299C>A, NM_001349396.2:c.221C>A, NM_001349396.1:c.221C>A, NM_001256756.2:c.-350C>A, NM_001256756.1:c.-350C>A, NR_146167.2:n.311C>A, NR_146167.1:n.306C>A, NM_001349398.2:c.155C>A, NM_001349398.1:c.155C>A, XM_024453593.2:c.287C>A, XM_024453593.1:c.287C>A, NM_001256755.2:c.98C>A, NM_001256755.1:c.98C>A, NM_001349410.2:c.-155C>A, NM_001349410.1:c.-155C>A, XM_047448297.1:c.227C>A, XM_047448298.1:c.122C>A, XM_047448299.1:c.50C>A, NP_057643.1:p.Pro76His, XP_011511190.1:p.Pro46His, NP_001336317.1:p.Pro100His, NP_001336321.1:p.Pro65His, NP_001336326.1:p.Pro65His, XP_024309358.1:p.Pro153His, XP_024309359.1:p.Pro122His, NP_001336318.1:p.Pro98His, NP_001336315.1:p.Pro131His, NP_001336316.1:p.Pro100His, NP_001243679.1:p.Pro74His, NP_001243680.1:p.Pro52His, NP_001336319.1:p.Pro96His, NP_001336322.1:p.Pro65His, NP_001243681.1:p.Pro41His, XP_024309360.1:p.Pro153His, NP_001336324.1:p.Pro33His, NP_001243683.1:p.Pro33His, NP_001243682.1:p.Pro17His, NP_001336320.1:p.Pro131His, NP_001336323.1:p.Pro100His, NP_001336325.1:p.Pro74His, NP_001336327.1:p.Pro52His, XP_024309361.1:p.Pro96His, NP_001243684.1:p.Pro33His, XP_047304253.1:p.Pro76His, XP_047304254.1:p.Pro41His, XP_047304255.1:p.Pro17His

              7.

              rs1478430388 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                3:179801881 (GRCh38)
                3:179519669 (GRCh37)
                Canonical SPDI:
                NC_000003.12:179801880:C:A
                Gene:
                PEX5L (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.179801881C>A, NC_000003.11:g.179519669C>A, XM_011512891.3:c.1252G>T, XM_011512891.2:c.1252G>T, XM_011512891.1:c.1252G>T, NM_016559.3:c.1828G>T, NM_016559.2:c.1828G>T, XM_011512888.3:c.1738G>T, XM_011512888.2:c.1738G>T, XM_011512888.1:c.1738G>T, NM_001349388.2:c.1900G>T, NM_001349388.1:c.1900G>T, NM_001349392.2:c.1795G>T, NM_001349392.1:c.1795G>T, NM_001349397.2:c.1600G>T, NM_001349397.1:c.1600G>T, XM_024453590.2:c.2059G>T, XM_024453590.1:c.2059G>T, XM_024453591.2:c.1966G>T, XM_024453591.1:c.1966G>T, NM_001349389.2:c.1894G>T, NM_001349389.1:c.1894G>T, NM_001349386.2:c.1993G>T, NM_001349386.1:c.1993G>T, NM_001349387.2:c.1900G>T, NM_001349387.1:c.1900G>T, NM_001256750.2:c.1822G>T, NM_001256750.1:c.1822G>T, NM_001256751.2:c.1756G>T, NM_001256751.1:c.1756G>T, NM_001349390.2:c.1888G>T, NM_001349390.1:c.1888G>T, NM_001349393.2:c.1795G>T, NM_001349393.1:c.1795G>T, NM_001349408.2:c.1252G>T, NM_001349408.1:c.1252G>T, NM_001256752.2:c.1723G>T, NM_001256752.1:c.1723G>T, XM_024453592.2:c.1864G>T, XM_024453592.1:c.1864G>T, NM_001349395.2:c.1699G>T, NM_001349395.1:c.1699G>T, NM_001256754.2:c.1699G>T, NM_001256754.1:c.1699G>T, NM_001256753.2:c.1651G>T, NM_001256753.1:c.1651G>T, NM_001349391.2:c.1798G>T, NM_001349391.1:c.1798G>T, NM_001349399.2:c.1252G>T, NM_001349399.1:c.1252G>T, NM_001349394.2:c.1705G>T, NM_001349394.1:c.1705G>T, NM_001349396.2:c.1627G>T, NM_001349396.1:c.1627G>T, NM_001349406.2:c.1252G>T, NM_001349406.1:c.1252G>T, NM_001256756.2:c.1252G>T, NM_001256756.1:c.1252G>T, NR_146167.2:n.1908G>T, NR_146167.1:n.1903G>T, NM_001349409.2:c.1252G>T, NM_001349409.1:c.1252G>T, NM_001349398.2:c.1561G>T, NM_001349398.1:c.1561G>T, XM_024453593.2:c.1693G>T, XM_024453593.1:c.1693G>T, NM_001349401.2:c.1252G>T, NM_001349401.1:c.1252G>T, NM_001256755.2:c.1504G>T, NM_001256755.1:c.1504G>T, NM_001349410.2:c.1252G>T, NM_001349410.1:c.1252G>T, NM_001349404.2:c.1252G>T, NM_001349404.1:c.1252G>T, XM_047448297.1:c.1633G>T, XM_047448298.1:c.1528G>T, XM_047448299.1:c.1456G>T, XP_011511193.1:p.Ala418Ser, NP_057643.1:p.Ala610Ser, XP_011511190.1:p.Ala580Ser, NP_001336317.1:p.Ala634Ser, NP_001336321.1:p.Ala599Ser, NP_001336326.1:p.Ala534Ser, XP_024309358.1:p.Ala687Ser, XP_024309359.1:p.Ala656Ser, NP_001336318.1:p.Ala632Ser, NP_001336315.1:p.Ala665Ser, NP_001336316.1:p.Ala634Ser, NP_001243679.1:p.Ala608Ser, NP_001243680.1:p.Ala586Ser, NP_001336319.1:p.Ala630Ser, NP_001336322.1:p.Ala599Ser, NP_001336337.1:p.Ala418Ser, NP_001243681.1:p.Ala575Ser, XP_024309360.1:p.Ala622Ser, NP_001336324.1:p.Ala567Ser, NP_001243683.1:p.Ala567Ser, NP_001243682.1:p.Ala551Ser, NP_001336320.1:p.Ala600Ser, NP_001336328.1:p.Ala418Ser, NP_001336323.1:p.Ala569Ser, NP_001336325.1:p.Ala543Ser, NP_001336335.1:p.Ala418Ser, NP_001243685.1:p.Ala418Ser, NP_001336338.1:p.Ala418Ser, NP_001336327.1:p.Ala521Ser, XP_024309361.1:p.Ala565Ser, NP_001336330.1:p.Ala418Ser, NP_001243684.1:p.Ala502Ser, NP_001336339.1:p.Ala418Ser, NP_001336333.1:p.Ala418Ser, XP_047304253.1:p.Ala545Ser, XP_047304254.1:p.Ala510Ser, XP_047304255.1:p.Ala486Ser

                8.

                rs1477403485 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  3:179898193 (GRCh38)
                  3:179615981 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:179898192:T:G
                  Gene:
                  PEX5L (Varview), PEX5L-AS2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000047/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.179898193T>G, NC_000003.11:g.179615981T>G, NM_016559.3:c.147A>C, NM_016559.2:c.147A>C, NM_001349388.2:c.219A>C, NM_001349388.1:c.219A>C, XM_024453590.2:c.378A>C, XM_024453590.1:c.378A>C, XM_024453591.2:c.285A>C, XM_024453591.1:c.285A>C, NM_001349389.2:c.213A>C, NM_001349389.1:c.213A>C, NM_001349386.2:c.312A>C, NM_001349386.1:c.312A>C, NM_001349387.2:c.219A>C, NM_001349387.1:c.219A>C, NM_001256750.2:c.141A>C, NM_001256750.1:c.141A>C, NM_001256751.2:c.75A>C, NM_001256751.1:c.75A>C, NM_001349408.2:c.-318A>C, NM_001349408.1:c.-318A>C, XM_024453592.2:c.378A>C, XM_024453592.1:c.378A>C, NM_001349395.2:c.18A>C, NM_001349395.1:c.18A>C, NM_001256754.2:c.18A>C, NM_001256754.1:c.18A>C, NM_001349391.2:c.312A>C, NM_001349391.1:c.312A>C, NM_001349399.2:c.-318A>C, NM_001349399.1:c.-318A>C, NM_001349394.2:c.219A>C, NM_001349394.1:c.219A>C, NM_001349396.2:c.141A>C, NM_001349396.1:c.141A>C, NM_001349409.2:c.-318A>C, NM_001349409.1:c.-318A>C, NM_001349398.2:c.75A>C, NM_001349398.1:c.75A>C, NM_001256755.2:c.18A>C, NM_001256755.1:c.18A>C, XM_047448297.1:c.147A>C

                  9.

                  rs1473429281 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:179811837 (GRCh38)
                    3:179529625 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:179811836:T:C
                    Gene:
                    PEX5L (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    HGVS:
                    NC_000003.12:g.179811837T>C, NC_000003.11:g.179529625T>C, XM_011512891.3:c.542A>G, XM_011512891.2:c.542A>G, XM_011512891.1:c.542A>G, NM_016559.3:c.1118A>G, NM_016559.2:c.1118A>G, XM_011512888.3:c.1028A>G, XM_011512888.2:c.1028A>G, XM_011512888.1:c.1028A>G, NM_001349388.2:c.1190A>G, NM_001349388.1:c.1190A>G, NM_001349392.2:c.1085A>G, NM_001349392.1:c.1085A>G, NM_001349397.2:c.890A>G, NM_001349397.1:c.890A>G, XM_024453590.2:c.1349A>G, XM_024453590.1:c.1349A>G, XM_024453591.2:c.1256A>G, XM_024453591.1:c.1256A>G, NM_001349389.2:c.1184A>G, NM_001349389.1:c.1184A>G, NM_001349386.2:c.1283A>G, NM_001349386.1:c.1283A>G, NM_001349387.2:c.1190A>G, NM_001349387.1:c.1190A>G, NM_001256750.2:c.1112A>G, NM_001256750.1:c.1112A>G, NM_001256751.2:c.1046A>G, NM_001256751.1:c.1046A>G, NM_001349390.2:c.1178A>G, NM_001349390.1:c.1178A>G, NM_001349393.2:c.1085A>G, NM_001349393.1:c.1085A>G, NM_001349408.2:c.542A>G, NM_001349408.1:c.542A>G, NM_001256752.2:c.1013A>G, NM_001256752.1:c.1013A>G, XM_024453592.2:c.1154A>G, XM_024453592.1:c.1154A>G, NM_001349395.2:c.989A>G, NM_001349395.1:c.989A>G, NM_001256754.2:c.989A>G, NM_001256754.1:c.989A>G, NM_001256753.2:c.941A>G, NM_001256753.1:c.941A>G, NM_001349391.2:c.1088A>G, NM_001349391.1:c.1088A>G, NM_001349399.2:c.542A>G, NM_001349399.1:c.542A>G, NM_001349394.2:c.995A>G, NM_001349394.1:c.995A>G, NM_001349396.2:c.917A>G, NM_001349396.1:c.917A>G, NM_001349406.2:c.542A>G, NM_001349406.1:c.542A>G, NM_001256756.2:c.542A>G, NM_001256756.1:c.542A>G, NR_146167.2:n.1198A>G, NR_146167.1:n.1193A>G, NM_001349409.2:c.542A>G, NM_001349409.1:c.542A>G, NM_001349398.2:c.851A>G, NM_001349398.1:c.851A>G, XM_024453593.2:c.983A>G, XM_024453593.1:c.983A>G, NM_001349401.2:c.542A>G, NM_001349401.1:c.542A>G, NM_001256755.2:c.794A>G, NM_001256755.1:c.794A>G, NM_001349410.2:c.542A>G, NM_001349410.1:c.542A>G, NM_001349404.2:c.542A>G, NM_001349404.1:c.542A>G, XM_047448297.1:c.923A>G, XM_047448298.1:c.818A>G, XM_047448299.1:c.746A>G, XP_011511193.1:p.Asn181Ser, NP_057643.1:p.Asn373Ser, XP_011511190.1:p.Asn343Ser, NP_001336317.1:p.Asn397Ser, NP_001336321.1:p.Asn362Ser, NP_001336326.1:p.Asn297Ser, XP_024309358.1:p.Asn450Ser, XP_024309359.1:p.Asn419Ser, NP_001336318.1:p.Asn395Ser, NP_001336315.1:p.Asn428Ser, NP_001336316.1:p.Asn397Ser, NP_001243679.1:p.Asn371Ser, NP_001243680.1:p.Asn349Ser, NP_001336319.1:p.Asn393Ser, NP_001336322.1:p.Asn362Ser, NP_001336337.1:p.Asn181Ser, NP_001243681.1:p.Asn338Ser, XP_024309360.1:p.Asn385Ser, NP_001336324.1:p.Asn330Ser, NP_001243683.1:p.Asn330Ser, NP_001243682.1:p.Asn314Ser, NP_001336320.1:p.Asn363Ser, NP_001336328.1:p.Asn181Ser, NP_001336323.1:p.Asn332Ser, NP_001336325.1:p.Asn306Ser, NP_001336335.1:p.Asn181Ser, NP_001243685.1:p.Asn181Ser, NP_001336338.1:p.Asn181Ser, NP_001336327.1:p.Asn284Ser, XP_024309361.1:p.Asn328Ser, NP_001336330.1:p.Asn181Ser, NP_001243684.1:p.Asn265Ser, NP_001336339.1:p.Asn181Ser, NP_001336333.1:p.Asn181Ser, XP_047304253.1:p.Asn308Ser, XP_047304254.1:p.Asn273Ser, XP_047304255.1:p.Asn249Ser

                    10.

                    rs1472522359 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:179811864 (GRCh38)
                      3:179529652 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:179811863:T:C
                      Gene:
                      PEX5L (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.179811864T>C, NC_000003.11:g.179529652T>C, XM_011512891.3:c.515A>G, XM_011512891.2:c.515A>G, XM_011512891.1:c.515A>G, NM_016559.3:c.1091A>G, NM_016559.2:c.1091A>G, XM_011512888.3:c.1001A>G, XM_011512888.2:c.1001A>G, XM_011512888.1:c.1001A>G, NM_001349388.2:c.1163A>G, NM_001349388.1:c.1163A>G, NM_001349392.2:c.1058A>G, NM_001349392.1:c.1058A>G, NM_001349397.2:c.863A>G, NM_001349397.1:c.863A>G, XM_024453590.2:c.1322A>G, XM_024453590.1:c.1322A>G, XM_024453591.2:c.1229A>G, XM_024453591.1:c.1229A>G, NM_001349389.2:c.1157A>G, NM_001349389.1:c.1157A>G, NM_001349386.2:c.1256A>G, NM_001349386.1:c.1256A>G, NM_001349387.2:c.1163A>G, NM_001349387.1:c.1163A>G, NM_001256750.2:c.1085A>G, NM_001256750.1:c.1085A>G, NM_001256751.2:c.1019A>G, NM_001256751.1:c.1019A>G, NM_001349390.2:c.1151A>G, NM_001349390.1:c.1151A>G, NM_001349393.2:c.1058A>G, NM_001349393.1:c.1058A>G, NM_001349408.2:c.515A>G, NM_001349408.1:c.515A>G, NM_001256752.2:c.986A>G, NM_001256752.1:c.986A>G, XM_024453592.2:c.1127A>G, XM_024453592.1:c.1127A>G, NM_001349395.2:c.962A>G, NM_001349395.1:c.962A>G, NM_001256754.2:c.962A>G, NM_001256754.1:c.962A>G, NM_001256753.2:c.914A>G, NM_001256753.1:c.914A>G, NM_001349391.2:c.1061A>G, NM_001349391.1:c.1061A>G, NM_001349399.2:c.515A>G, NM_001349399.1:c.515A>G, NM_001349394.2:c.968A>G, NM_001349394.1:c.968A>G, NM_001349396.2:c.890A>G, NM_001349396.1:c.890A>G, NM_001349406.2:c.515A>G, NM_001349406.1:c.515A>G, NM_001256756.2:c.515A>G, NM_001256756.1:c.515A>G, NR_146167.2:n.1171A>G, NR_146167.1:n.1166A>G, NM_001349409.2:c.515A>G, NM_001349409.1:c.515A>G, NM_001349398.2:c.824A>G, NM_001349398.1:c.824A>G, XM_024453593.2:c.956A>G, XM_024453593.1:c.956A>G, NM_001349401.2:c.515A>G, NM_001349401.1:c.515A>G, NM_001256755.2:c.767A>G, NM_001256755.1:c.767A>G, NM_001349410.2:c.515A>G, NM_001349410.1:c.515A>G, NM_001349404.2:c.515A>G, NM_001349404.1:c.515A>G, XM_047448297.1:c.896A>G, XM_047448298.1:c.791A>G, XM_047448299.1:c.719A>G, XP_011511193.1:p.Gln172Arg, NP_057643.1:p.Gln364Arg, XP_011511190.1:p.Gln334Arg, NP_001336317.1:p.Gln388Arg, NP_001336321.1:p.Gln353Arg, NP_001336326.1:p.Gln288Arg, XP_024309358.1:p.Gln441Arg, XP_024309359.1:p.Gln410Arg, NP_001336318.1:p.Gln386Arg, NP_001336315.1:p.Gln419Arg, NP_001336316.1:p.Gln388Arg, NP_001243679.1:p.Gln362Arg, NP_001243680.1:p.Gln340Arg, NP_001336319.1:p.Gln384Arg, NP_001336322.1:p.Gln353Arg, NP_001336337.1:p.Gln172Arg, NP_001243681.1:p.Gln329Arg, XP_024309360.1:p.Gln376Arg, NP_001336324.1:p.Gln321Arg, NP_001243683.1:p.Gln321Arg, NP_001243682.1:p.Gln305Arg, NP_001336320.1:p.Gln354Arg, NP_001336328.1:p.Gln172Arg, NP_001336323.1:p.Gln323Arg, NP_001336325.1:p.Gln297Arg, NP_001336335.1:p.Gln172Arg, NP_001243685.1:p.Gln172Arg, NP_001336338.1:p.Gln172Arg, NP_001336327.1:p.Gln275Arg, XP_024309361.1:p.Gln319Arg, NP_001336330.1:p.Gln172Arg, NP_001243684.1:p.Gln256Arg, NP_001336339.1:p.Gln172Arg, NP_001336333.1:p.Gln172Arg, XP_047304253.1:p.Gln299Arg, XP_047304254.1:p.Gln264Arg, XP_047304255.1:p.Gln240Arg

                      11.

                      rs1471794061 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        3:179819908 (GRCh38)
                        3:179537696 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:179819907:A:T
                        Gene:
                        PEX5L (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        NC_000003.12:g.179819908A>T, NC_000003.11:g.179537696A>T, XM_011512891.3:c.315T>A, XM_011512891.2:c.315T>A, XM_011512891.1:c.315T>A, NM_016559.3:c.891T>A, NM_016559.2:c.891T>A, XM_011512888.3:c.801T>A, XM_011512888.2:c.801T>A, XM_011512888.1:c.801T>A, NM_001349388.2:c.963T>A, NM_001349388.1:c.963T>A, NM_001349392.2:c.858T>A, NM_001349392.1:c.858T>A, NM_001349397.2:c.663T>A, NM_001349397.1:c.663T>A, XM_024453590.2:c.1122T>A, XM_024453590.1:c.1122T>A, XM_024453591.2:c.1029T>A, XM_024453591.1:c.1029T>A, NM_001349389.2:c.957T>A, NM_001349389.1:c.957T>A, NM_001349386.2:c.1056T>A, NM_001349386.1:c.1056T>A, NM_001349387.2:c.963T>A, NM_001349387.1:c.963T>A, NM_001256750.2:c.885T>A, NM_001256750.1:c.885T>A, NM_001256751.2:c.819T>A, NM_001256751.1:c.819T>A, NM_001349390.2:c.951T>A, NM_001349390.1:c.951T>A, NM_001349393.2:c.858T>A, NM_001349393.1:c.858T>A, NM_001349408.2:c.315T>A, NM_001349408.1:c.315T>A, NM_001256752.2:c.786T>A, NM_001256752.1:c.786T>A, XM_024453592.2:c.927T>A, XM_024453592.1:c.927T>A, NM_001349395.2:c.762T>A, NM_001349395.1:c.762T>A, NM_001256754.2:c.762T>A, NM_001256754.1:c.762T>A, NM_001256753.2:c.714T>A, NM_001256753.1:c.714T>A, NM_001349391.2:c.861T>A, NM_001349391.1:c.861T>A, NM_001349399.2:c.315T>A, NM_001349399.1:c.315T>A, NM_001349394.2:c.768T>A, NM_001349394.1:c.768T>A, NM_001349396.2:c.690T>A, NM_001349396.1:c.690T>A, NM_001349406.2:c.315T>A, NM_001349406.1:c.315T>A, NM_001256756.2:c.315T>A, NM_001256756.1:c.315T>A, NR_146167.2:n.971T>A, NR_146167.1:n.966T>A, NM_001349409.2:c.315T>A, NM_001349409.1:c.315T>A, NM_001349398.2:c.624T>A, NM_001349398.1:c.624T>A, XM_024453593.2:c.756T>A, XM_024453593.1:c.756T>A, NM_001349401.2:c.315T>A, NM_001349401.1:c.315T>A, NM_001256755.2:c.567T>A, NM_001256755.1:c.567T>A, NM_001349410.2:c.315T>A, NM_001349410.1:c.315T>A, NM_001349404.2:c.315T>A, NM_001349404.1:c.315T>A, XM_047448297.1:c.696T>A, XM_047448298.1:c.591T>A, XM_047448299.1:c.519T>A

                        12.

                        rs1471093496 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          3:180036589 (GRCh38)
                          3:179754377 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:180036588:C:A,NC_000003.12:180036588:C:T
                          Gene:
                          PEX5L (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.00003/1 (ALFA)
                          HGVS:
                          NC_000003.12:g.180036589C>A, NC_000003.12:g.180036589C>T, NC_000003.11:g.179754377C>A, NC_000003.11:g.179754377C>T, NM_016559.3:c.11G>T, NM_016559.3:c.11G>A, NM_016559.2:c.11G>T, NM_016559.2:c.11G>A, NM_001349389.2:c.11G>T, NM_001349389.2:c.11G>A, NM_001349389.1:c.11G>T, NM_001349389.1:c.11G>A, NM_001256750.2:c.11G>T, NM_001256750.2:c.11G>A, NM_001256750.1:c.11G>T, NM_001256750.1:c.11G>A, NM_001256751.2:c.11G>T, NM_001256751.2:c.11G>A, NM_001256751.1:c.11G>T, NM_001256751.1:c.11G>A, NM_001256752.2:c.11G>T, NM_001256752.2:c.11G>A, NM_001256752.1:c.11G>T, NM_001256752.1:c.11G>A, NM_001256753.2:c.11G>T, NM_001256753.2:c.11G>A, NM_001256753.1:c.11G>T, NM_001256753.1:c.11G>A, NM_001349399.2:c.-382G>T, NM_001349399.2:c.-382G>A, NM_001349399.1:c.-382G>T, NM_001349399.1:c.-382G>A, NM_001349396.2:c.11G>T, NM_001349396.2:c.11G>A, NM_001349396.1:c.11G>T, NM_001349396.1:c.11G>A, NM_001349398.2:c.11G>T, NM_001349398.2:c.11G>A, NM_001349398.1:c.11G>T, NM_001349398.1:c.11G>A, NM_001349401.2:c.-277G>T, NM_001349401.2:c.-277G>A, NM_001349401.1:c.-277G>T, NM_001349401.1:c.-277G>A, NM_001349404.2:c.-82G>T, NM_001349404.2:c.-82G>A, NM_001349404.1:c.-82G>T, NM_001349404.1:c.-82G>A, XM_047448297.1:c.11G>T, XM_047448297.1:c.11G>A, XM_047448298.1:c.11G>T, XM_047448298.1:c.11G>A, XM_047448299.1:c.11G>T, XM_047448299.1:c.11G>A, NP_057643.1:p.Gly4Val, NP_057643.1:p.Gly4Glu, NP_001336318.1:p.Gly4Val, NP_001336318.1:p.Gly4Glu, NP_001243679.1:p.Gly4Val, NP_001243679.1:p.Gly4Glu, NP_001243680.1:p.Gly4Val, NP_001243680.1:p.Gly4Glu, NP_001243681.1:p.Gly4Val, NP_001243681.1:p.Gly4Glu, NP_001243682.1:p.Gly4Val, NP_001243682.1:p.Gly4Glu, NP_001336325.1:p.Gly4Val, NP_001336325.1:p.Gly4Glu, NP_001336327.1:p.Gly4Val, NP_001336327.1:p.Gly4Glu, XP_047304253.1:p.Gly4Val, XP_047304253.1:p.Gly4Glu, XP_047304254.1:p.Gly4Val, XP_047304254.1:p.Gly4Glu, XP_047304255.1:p.Gly4Val, XP_047304255.1:p.Gly4Glu

                          13.

                          rs1468030868 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:179875406 (GRCh38)
                            3:179593194 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:179875405:T:C
                            Gene:
                            PEX5L (Varview)
                            Functional Consequence:
                            initiator_codon_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.179875406T>C, NC_000003.11:g.179593194T>C, XM_011512891.3:c.1A>G, XM_011512891.2:c.1A>G, XM_011512891.1:c.1A>G, NM_016559.3:c.577A>G, NM_016559.2:c.577A>G, XM_011512888.3:c.487A>G, XM_011512888.2:c.487A>G, XM_011512888.1:c.487A>G, NM_001349388.2:c.649A>G, NM_001349388.1:c.649A>G, NM_001349392.2:c.544A>G, NM_001349392.1:c.544A>G, NM_001349397.2:c.349A>G, NM_001349397.1:c.349A>G, XM_024453590.2:c.808A>G, XM_024453590.1:c.808A>G, XM_024453591.2:c.715A>G, XM_024453591.1:c.715A>G, NM_001349389.2:c.643A>G, NM_001349389.1:c.643A>G, NM_001349386.2:c.742A>G, NM_001349386.1:c.742A>G, NM_001349387.2:c.649A>G, NM_001349387.1:c.649A>G, NM_001256750.2:c.571A>G, NM_001256750.1:c.571A>G, NM_001256751.2:c.505A>G, NM_001256751.1:c.505A>G, NM_001349390.2:c.637A>G, NM_001349390.1:c.637A>G, NM_001349393.2:c.544A>G, NM_001349393.1:c.544A>G, NM_001349408.2:c.1A>G, NM_001349408.1:c.1A>G, NM_001256752.2:c.472A>G, NM_001256752.1:c.472A>G, XM_024453592.2:c.613A>G, XM_024453592.1:c.613A>G, NM_001349395.2:c.448A>G, NM_001349395.1:c.448A>G, NM_001256754.2:c.448A>G, NM_001256754.1:c.448A>G, NM_001256753.2:c.400A>G, NM_001256753.1:c.400A>G, NM_001349391.2:c.547A>G, NM_001349391.1:c.547A>G, NM_001349399.2:c.1A>G, NM_001349399.1:c.1A>G, NM_001349394.2:c.454A>G, NM_001349394.1:c.454A>G, NM_001349396.2:c.376A>G, NM_001349396.1:c.376A>G, NM_001349406.2:c.1A>G, NM_001349406.1:c.1A>G, NM_001256756.2:c.1A>G, NM_001256756.1:c.1A>G, NR_146167.2:n.661A>G, NR_146167.1:n.656A>G, NM_001349409.2:c.1A>G, NM_001349409.1:c.1A>G, NM_001349398.2:c.310A>G, NM_001349398.1:c.310A>G, XM_024453593.2:c.442A>G, XM_024453593.1:c.442A>G, NM_001349401.2:c.1A>G, NM_001349401.1:c.1A>G, NM_001256755.2:c.253A>G, NM_001256755.1:c.253A>G, NM_001349410.2:c.1A>G, NM_001349410.1:c.1A>G, NM_001349404.2:c.1A>G, NM_001349404.1:c.1A>G, XM_047448297.1:c.382A>G, XM_047448298.1:c.277A>G, XM_047448299.1:c.205A>G, XP_011511193.1:p.Met1Val, NP_057643.1:p.Met193Val, XP_011511190.1:p.Met163Val, NP_001336317.1:p.Met217Val, NP_001336321.1:p.Met182Val, NP_001336326.1:p.Met117Val, XP_024309358.1:p.Met270Val, XP_024309359.1:p.Met239Val, NP_001336318.1:p.Met215Val, NP_001336315.1:p.Met248Val, NP_001336316.1:p.Met217Val, NP_001243679.1:p.Met191Val, NP_001243680.1:p.Met169Val, NP_001336319.1:p.Met213Val, NP_001336322.1:p.Met182Val, NP_001336337.1:p.Met1Val, NP_001243681.1:p.Met158Val, XP_024309360.1:p.Met205Val, NP_001336324.1:p.Met150Val, NP_001243683.1:p.Met150Val, NP_001243682.1:p.Met134Val, NP_001336320.1:p.Met183Val, NP_001336328.1:p.Met1Val, NP_001336323.1:p.Met152Val, NP_001336325.1:p.Met126Val, NP_001336335.1:p.Met1Val, NP_001243685.1:p.Met1Val, NP_001336338.1:p.Met1Val, NP_001336327.1:p.Met104Val, XP_024309361.1:p.Met148Val, NP_001336330.1:p.Met1Val, NP_001243684.1:p.Met85Val, NP_001336339.1:p.Met1Val, NP_001336333.1:p.Met1Val, XP_047304253.1:p.Met128Val, XP_047304254.1:p.Met93Val, XP_047304255.1:p.Met69Val

                            14.

                            rs1463467663 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:179801846 (GRCh38)
                              3:179519634 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:179801845:A:G
                              Gene:
                              PEX5L (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.179801846A>G, NC_000003.11:g.179519634A>G, XM_011512891.3:c.1287T>C, XM_011512891.2:c.1287T>C, XM_011512891.1:c.1287T>C, NM_016559.3:c.1863T>C, NM_016559.2:c.1863T>C, XM_011512888.3:c.1773T>C, XM_011512888.2:c.1773T>C, XM_011512888.1:c.1773T>C, NM_001349388.2:c.1935T>C, NM_001349388.1:c.1935T>C, NM_001349392.2:c.1830T>C, NM_001349392.1:c.1830T>C, NM_001349397.2:c.1635T>C, NM_001349397.1:c.1635T>C, XM_024453590.2:c.2094T>C, XM_024453590.1:c.2094T>C, XM_024453591.2:c.2001T>C, XM_024453591.1:c.2001T>C, NM_001349389.2:c.1929T>C, NM_001349389.1:c.1929T>C, NM_001349386.2:c.2028T>C, NM_001349386.1:c.2028T>C, NM_001349387.2:c.1935T>C, NM_001349387.1:c.1935T>C, NM_001256750.2:c.1857T>C, NM_001256750.1:c.1857T>C, NM_001256751.2:c.1791T>C, NM_001256751.1:c.1791T>C, NM_001349390.2:c.1923T>C, NM_001349390.1:c.1923T>C, NM_001349393.2:c.1830T>C, NM_001349393.1:c.1830T>C, NM_001349408.2:c.1287T>C, NM_001349408.1:c.1287T>C, NM_001256752.2:c.1758T>C, NM_001256752.1:c.1758T>C, XM_024453592.2:c.1899T>C, XM_024453592.1:c.1899T>C, NM_001349395.2:c.1734T>C, NM_001349395.1:c.1734T>C, NM_001256754.2:c.1734T>C, NM_001256754.1:c.1734T>C, NM_001256753.2:c.1686T>C, NM_001256753.1:c.1686T>C, NM_001349391.2:c.1833T>C, NM_001349391.1:c.1833T>C, NM_001349399.2:c.1287T>C, NM_001349399.1:c.1287T>C, NM_001349394.2:c.1740T>C, NM_001349394.1:c.1740T>C, NM_001349396.2:c.1662T>C, NM_001349396.1:c.1662T>C, NM_001349406.2:c.1287T>C, NM_001349406.1:c.1287T>C, NM_001256756.2:c.1287T>C, NM_001256756.1:c.1287T>C, NR_146167.2:n.1943T>C, NR_146167.1:n.1938T>C, NM_001349409.2:c.1287T>C, NM_001349409.1:c.1287T>C, NM_001349398.2:c.1596T>C, NM_001349398.1:c.1596T>C, XM_024453593.2:c.1728T>C, XM_024453593.1:c.1728T>C, NM_001349401.2:c.1287T>C, NM_001349401.1:c.1287T>C, NM_001256755.2:c.1539T>C, NM_001256755.1:c.1539T>C, NM_001349410.2:c.1287T>C, NM_001349410.1:c.1287T>C, NM_001349404.2:c.1287T>C, NM_001349404.1:c.1287T>C, XM_047448297.1:c.1668T>C, XM_047448298.1:c.1563T>C, XM_047448299.1:c.1491T>C

                              15.

                              rs1461387388 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:179875390 (GRCh38)
                                3:179593178 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:179875389:G:A
                                Gene:
                                PEX5L (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000003.12:g.179875390G>A, NC_000003.11:g.179593178G>A, XM_011512891.3:c.17C>T, XM_011512891.2:c.17C>T, XM_011512891.1:c.17C>T, NM_016559.3:c.593C>T, NM_016559.2:c.593C>T, XM_011512888.3:c.503C>T, XM_011512888.2:c.503C>T, XM_011512888.1:c.503C>T, NM_001349388.2:c.665C>T, NM_001349388.1:c.665C>T, NM_001349392.2:c.560C>T, NM_001349392.1:c.560C>T, NM_001349397.2:c.365C>T, NM_001349397.1:c.365C>T, XM_024453590.2:c.824C>T, XM_024453590.1:c.824C>T, XM_024453591.2:c.731C>T, XM_024453591.1:c.731C>T, NM_001349389.2:c.659C>T, NM_001349389.1:c.659C>T, NM_001349386.2:c.758C>T, NM_001349386.1:c.758C>T, NM_001349387.2:c.665C>T, NM_001349387.1:c.665C>T, NM_001256750.2:c.587C>T, NM_001256750.1:c.587C>T, NM_001256751.2:c.521C>T, NM_001256751.1:c.521C>T, NM_001349390.2:c.653C>T, NM_001349390.1:c.653C>T, NM_001349393.2:c.560C>T, NM_001349393.1:c.560C>T, NM_001349408.2:c.17C>T, NM_001349408.1:c.17C>T, NM_001256752.2:c.488C>T, NM_001256752.1:c.488C>T, XM_024453592.2:c.629C>T, XM_024453592.1:c.629C>T, NM_001349395.2:c.464C>T, NM_001349395.1:c.464C>T, NM_001256754.2:c.464C>T, NM_001256754.1:c.464C>T, NM_001256753.2:c.416C>T, NM_001256753.1:c.416C>T, NM_001349391.2:c.563C>T, NM_001349391.1:c.563C>T, NM_001349399.2:c.17C>T, NM_001349399.1:c.17C>T, NM_001349394.2:c.470C>T, NM_001349394.1:c.470C>T, NM_001349396.2:c.392C>T, NM_001349396.1:c.392C>T, NM_001349406.2:c.17C>T, NM_001349406.1:c.17C>T, NM_001256756.2:c.17C>T, NM_001256756.1:c.17C>T, NR_146167.2:n.677C>T, NR_146167.1:n.672C>T, NM_001349409.2:c.17C>T, NM_001349409.1:c.17C>T, NM_001349398.2:c.326C>T, NM_001349398.1:c.326C>T, XM_024453593.2:c.458C>T, XM_024453593.1:c.458C>T, NM_001349401.2:c.17C>T, NM_001349401.1:c.17C>T, NM_001256755.2:c.269C>T, NM_001256755.1:c.269C>T, NM_001349410.2:c.17C>T, NM_001349410.1:c.17C>T, NM_001349404.2:c.17C>T, NM_001349404.1:c.17C>T, XM_047448297.1:c.398C>T, XM_047448298.1:c.293C>T, XM_047448299.1:c.221C>T, XP_011511193.1:p.Ser6Leu, NP_057643.1:p.Ser198Leu, XP_011511190.1:p.Ser168Leu, NP_001336317.1:p.Ser222Leu, NP_001336321.1:p.Ser187Leu, NP_001336326.1:p.Ser122Leu, XP_024309358.1:p.Ser275Leu, XP_024309359.1:p.Ser244Leu, NP_001336318.1:p.Ser220Leu, NP_001336315.1:p.Ser253Leu, NP_001336316.1:p.Ser222Leu, NP_001243679.1:p.Ser196Leu, NP_001243680.1:p.Ser174Leu, NP_001336319.1:p.Ser218Leu, NP_001336322.1:p.Ser187Leu, NP_001336337.1:p.Ser6Leu, NP_001243681.1:p.Ser163Leu, XP_024309360.1:p.Ser210Leu, NP_001336324.1:p.Ser155Leu, NP_001243683.1:p.Ser155Leu, NP_001243682.1:p.Ser139Leu, NP_001336320.1:p.Ser188Leu, NP_001336328.1:p.Ser6Leu, NP_001336323.1:p.Ser157Leu, NP_001336325.1:p.Ser131Leu, NP_001336335.1:p.Ser6Leu, NP_001243685.1:p.Ser6Leu, NP_001336338.1:p.Ser6Leu, NP_001336327.1:p.Ser109Leu, XP_024309361.1:p.Ser153Leu, NP_001336330.1:p.Ser6Leu, NP_001243684.1:p.Ser90Leu, NP_001336339.1:p.Ser6Leu, NP_001336333.1:p.Ser6Leu, XP_047304253.1:p.Ser133Leu, XP_047304254.1:p.Ser98Leu, XP_047304255.1:p.Ser74Leu

                                16.

                                rs1456956274 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  3:180036581 (GRCh38)
                                  3:179754369 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:180036580:G:T
                                  Gene:
                                  PEX5L (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_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_000003.12:g.180036581G>T, NC_000003.11:g.179754369G>T, NM_016559.3:c.19C>A, NM_016559.2:c.19C>A, NM_001349389.2:c.19C>A, NM_001349389.1:c.19C>A, NM_001256750.2:c.19C>A, NM_001256750.1:c.19C>A, NM_001256751.2:c.19C>A, NM_001256751.1:c.19C>A, NM_001256752.2:c.19C>A, NM_001256752.1:c.19C>A, NM_001256753.2:c.19C>A, NM_001256753.1:c.19C>A, NM_001349399.2:c.-374C>A, NM_001349399.1:c.-374C>A, NM_001349396.2:c.19C>A, NM_001349396.1:c.19C>A, NM_001349398.2:c.19C>A, NM_001349398.1:c.19C>A, NM_001349401.2:c.-269C>A, NM_001349401.1:c.-269C>A, NM_001349404.2:c.-74C>A, NM_001349404.1:c.-74C>A, XM_047448297.1:c.19C>A, XM_047448298.1:c.19C>A, XM_047448299.1:c.19C>A, NP_057643.1:p.Gln7Lys, NP_001336318.1:p.Gln7Lys, NP_001243679.1:p.Gln7Lys, NP_001243680.1:p.Gln7Lys, NP_001243681.1:p.Gln7Lys, NP_001243682.1:p.Gln7Lys, NP_001336325.1:p.Gln7Lys, NP_001336327.1:p.Gln7Lys, XP_047304253.1:p.Gln7Lys, XP_047304254.1:p.Gln7Lys, XP_047304255.1:p.Gln7Lys

                                  17.

                                  rs1450211176 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:179815996 (GRCh38)
                                    3:179533784 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:179815995:G:A
                                    Gene:
                                    PEX5L (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.179815996G>A, NC_000003.11:g.179533784G>A, XM_011512891.3:c.372C>T, XM_011512891.2:c.372C>T, XM_011512891.1:c.372C>T, NM_016559.3:c.948C>T, NM_016559.2:c.948C>T, XM_011512888.3:c.858C>T, XM_011512888.2:c.858C>T, XM_011512888.1:c.858C>T, NM_001349388.2:c.1020C>T, NM_001349388.1:c.1020C>T, NM_001349392.2:c.915C>T, NM_001349392.1:c.915C>T, NM_001349397.2:c.720C>T, NM_001349397.1:c.720C>T, XM_024453590.2:c.1179C>T, XM_024453590.1:c.1179C>T, XM_024453591.2:c.1086C>T, XM_024453591.1:c.1086C>T, NM_001349389.2:c.1014C>T, NM_001349389.1:c.1014C>T, NM_001349386.2:c.1113C>T, NM_001349386.1:c.1113C>T, NM_001349387.2:c.1020C>T, NM_001349387.1:c.1020C>T, NM_001256750.2:c.942C>T, NM_001256750.1:c.942C>T, NM_001256751.2:c.876C>T, NM_001256751.1:c.876C>T, NM_001349390.2:c.1008C>T, NM_001349390.1:c.1008C>T, NM_001349393.2:c.915C>T, NM_001349393.1:c.915C>T, NM_001349408.2:c.372C>T, NM_001349408.1:c.372C>T, NM_001256752.2:c.843C>T, NM_001256752.1:c.843C>T, XM_024453592.2:c.984C>T, XM_024453592.1:c.984C>T, NM_001349395.2:c.819C>T, NM_001349395.1:c.819C>T, NM_001256754.2:c.819C>T, NM_001256754.1:c.819C>T, NM_001256753.2:c.771C>T, NM_001256753.1:c.771C>T, NM_001349391.2:c.918C>T, NM_001349391.1:c.918C>T, NM_001349399.2:c.372C>T, NM_001349399.1:c.372C>T, NM_001349394.2:c.825C>T, NM_001349394.1:c.825C>T, NM_001349396.2:c.747C>T, NM_001349396.1:c.747C>T, NM_001349406.2:c.372C>T, NM_001349406.1:c.372C>T, NM_001256756.2:c.372C>T, NM_001256756.1:c.372C>T, NR_146167.2:n.1028C>T, NR_146167.1:n.1023C>T, NM_001349409.2:c.372C>T, NM_001349409.1:c.372C>T, NM_001349398.2:c.681C>T, NM_001349398.1:c.681C>T, XM_024453593.2:c.813C>T, XM_024453593.1:c.813C>T, NM_001349401.2:c.372C>T, NM_001349401.1:c.372C>T, NM_001256755.2:c.624C>T, NM_001256755.1:c.624C>T, NM_001349410.2:c.372C>T, NM_001349410.1:c.372C>T, NM_001349404.2:c.372C>T, NM_001349404.1:c.372C>T, XM_047448297.1:c.753C>T, XM_047448298.1:c.648C>T, XM_047448299.1:c.576C>T

                                    18.

                                    rs1446887075 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:179807788 (GRCh38)
                                      3:179525576 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:179807787:C:T
                                      Gene:
                                      PEX5L (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.179807788C>T, NC_000003.11:g.179525576C>T, XM_011512891.3:c.986G>A, XM_011512891.2:c.986G>A, XM_011512891.1:c.986G>A, NM_016559.3:c.1562G>A, NM_016559.2:c.1562G>A, XM_011512888.3:c.1472G>A, XM_011512888.2:c.1472G>A, XM_011512888.1:c.1472G>A, NM_001349388.2:c.1634G>A, NM_001349388.1:c.1634G>A, NM_001349392.2:c.1529G>A, NM_001349392.1:c.1529G>A, NM_001349397.2:c.1334G>A, NM_001349397.1:c.1334G>A, XM_024453590.2:c.1793G>A, XM_024453590.1:c.1793G>A, XM_024453591.2:c.1700G>A, XM_024453591.1:c.1700G>A, NM_001349389.2:c.1628G>A, NM_001349389.1:c.1628G>A, NM_001349386.2:c.1727G>A, NM_001349386.1:c.1727G>A, NM_001349387.2:c.1634G>A, NM_001349387.1:c.1634G>A, NM_001256750.2:c.1556G>A, NM_001256750.1:c.1556G>A, NM_001256751.2:c.1490G>A, NM_001256751.1:c.1490G>A, NM_001349390.2:c.1622G>A, NM_001349390.1:c.1622G>A, NM_001349393.2:c.1529G>A, NM_001349393.1:c.1529G>A, NM_001349408.2:c.986G>A, NM_001349408.1:c.986G>A, NM_001256752.2:c.1457G>A, NM_001256752.1:c.1457G>A, XM_024453592.2:c.1598G>A, XM_024453592.1:c.1598G>A, NM_001349395.2:c.1433G>A, NM_001349395.1:c.1433G>A, NM_001256754.2:c.1433G>A, NM_001256754.1:c.1433G>A, NM_001256753.2:c.1385G>A, NM_001256753.1:c.1385G>A, NM_001349391.2:c.1532G>A, NM_001349391.1:c.1532G>A, NM_001349399.2:c.986G>A, NM_001349399.1:c.986G>A, NM_001349394.2:c.1439G>A, NM_001349394.1:c.1439G>A, NM_001349396.2:c.1361G>A, NM_001349396.1:c.1361G>A, NM_001349406.2:c.986G>A, NM_001349406.1:c.986G>A, NM_001256756.2:c.986G>A, NM_001256756.1:c.986G>A, NR_146167.2:n.1642G>A, NR_146167.1:n.1637G>A, NM_001349409.2:c.986G>A, NM_001349409.1:c.986G>A, NM_001349398.2:c.1295G>A, NM_001349398.1:c.1295G>A, XM_024453593.2:c.1427G>A, XM_024453593.1:c.1427G>A, NM_001349401.2:c.986G>A, NM_001349401.1:c.986G>A, NM_001256755.2:c.1238G>A, NM_001256755.1:c.1238G>A, NM_001349410.2:c.986G>A, NM_001349410.1:c.986G>A, NM_001349404.2:c.986G>A, NM_001349404.1:c.986G>A, XM_047448297.1:c.1367G>A, XM_047448298.1:c.1262G>A, XM_047448299.1:c.1190G>A, XP_011511193.1:p.Gly329Glu, NP_057643.1:p.Gly521Glu, XP_011511190.1:p.Gly491Glu, NP_001336317.1:p.Gly545Glu, NP_001336321.1:p.Gly510Glu, NP_001336326.1:p.Gly445Glu, XP_024309358.1:p.Gly598Glu, XP_024309359.1:p.Gly567Glu, NP_001336318.1:p.Gly543Glu, NP_001336315.1:p.Gly576Glu, NP_001336316.1:p.Gly545Glu, NP_001243679.1:p.Gly519Glu, NP_001243680.1:p.Gly497Glu, NP_001336319.1:p.Gly541Glu, NP_001336322.1:p.Gly510Glu, NP_001336337.1:p.Gly329Glu, NP_001243681.1:p.Gly486Glu, XP_024309360.1:p.Gly533Glu, NP_001336324.1:p.Gly478Glu, NP_001243683.1:p.Gly478Glu, NP_001243682.1:p.Gly462Glu, NP_001336320.1:p.Gly511Glu, NP_001336328.1:p.Gly329Glu, NP_001336323.1:p.Gly480Glu, NP_001336325.1:p.Gly454Glu, NP_001336335.1:p.Gly329Glu, NP_001243685.1:p.Gly329Glu, NP_001336338.1:p.Gly329Glu, NP_001336327.1:p.Gly432Glu, XP_024309361.1:p.Gly476Glu, NP_001336330.1:p.Gly329Glu, NP_001243684.1:p.Gly413Glu, NP_001336339.1:p.Gly329Glu, NP_001336333.1:p.Gly329Glu, XP_047304253.1:p.Gly456Glu, XP_047304254.1:p.Gly421Glu, XP_047304255.1:p.Gly397Glu

                                      19.

                                      rs1445390287 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:179887728 (GRCh38)
                                        3:179605516 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:179887727:A:G
                                        Gene:
                                        PEX5L (Varview)
                                        Functional Consequence:
                                        synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000342/1 (KOREAN)
                                        HGVS:
                                        NC_000003.12:g.179887728A>G, NC_000003.11:g.179605516A>G, XM_011512891.3:c.-322T>C, XM_011512891.2:c.-322T>C, XM_011512891.1:c.-322T>C, NM_016559.3:c.255T>C, NM_016559.2:c.255T>C, XM_011512888.3:c.165T>C, XM_011512888.2:c.165T>C, XM_011512888.1:c.165T>C, NM_001349388.2:c.327T>C, NM_001349388.1:c.327T>C, NM_001349392.2:c.222T>C, NM_001349392.1:c.222T>C, NM_001349397.2:c.222T>C, NM_001349397.1:c.222T>C, XM_024453590.2:c.486T>C, XM_024453590.1:c.486T>C, XM_024453591.2:c.393T>C, XM_024453591.1:c.393T>C, NM_001349389.2:c.321T>C, NM_001349389.1:c.321T>C, NM_001349386.2:c.420T>C, NM_001349386.1:c.420T>C, NM_001349387.2:c.327T>C, NM_001349387.1:c.327T>C, NM_001256750.2:c.249T>C, NM_001256750.1:c.249T>C, NM_001256751.2:c.183T>C, NM_001256751.1:c.183T>C, NM_001349390.2:c.315T>C, NM_001349390.1:c.315T>C, NM_001349393.2:c.222T>C, NM_001349393.1:c.222T>C, NM_001256752.2:c.150T>C, NM_001256752.1:c.150T>C, XM_024453592.2:c.486T>C, XM_024453592.1:c.486T>C, NM_001349395.2:c.126T>C, NM_001349395.1:c.126T>C, NM_001256754.2:c.126T>C, NM_001256754.1:c.126T>C, NM_001256753.2:c.78T>C, NM_001256753.1:c.78T>C, NM_001349391.2:c.420T>C, NM_001349391.1:c.420T>C, NM_001349394.2:c.327T>C, NM_001349394.1:c.327T>C, NM_001349396.2:c.249T>C, NM_001349396.1:c.249T>C, NM_001256756.2:c.-322T>C, NM_001256756.1:c.-322T>C, NR_146167.2:n.339T>C, NR_146167.1:n.334T>C, NM_001349398.2:c.183T>C, NM_001349398.1:c.183T>C, XM_024453593.2:c.315T>C, XM_024453593.1:c.315T>C, NM_001256755.2:c.126T>C, NM_001256755.1:c.126T>C, NM_001349410.2:c.-127T>C, NM_001349410.1:c.-127T>C, XM_047448297.1:c.255T>C, XM_047448298.1:c.150T>C, XM_047448299.1:c.78T>C

                                        20.

                                        rs1441744232 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:179809632 (GRCh38)
                                          3:179527420 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:179809631:C:T
                                          Gene:
                                          PEX5L (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          HGVS:
                                          NC_000003.12:g.179809632C>T, NC_000003.11:g.179527420C>T, XM_011512891.3:c.615G>A, XM_011512891.2:c.615G>A, XM_011512891.1:c.615G>A, NM_016559.3:c.1191G>A, NM_016559.2:c.1191G>A, XM_011512888.3:c.1101G>A, XM_011512888.2:c.1101G>A, XM_011512888.1:c.1101G>A, NM_001349388.2:c.1263G>A, NM_001349388.1:c.1263G>A, NM_001349392.2:c.1158G>A, NM_001349392.1:c.1158G>A, NM_001349397.2:c.963G>A, NM_001349397.1:c.963G>A, XM_024453590.2:c.1422G>A, XM_024453590.1:c.1422G>A, XM_024453591.2:c.1329G>A, XM_024453591.1:c.1329G>A, NM_001349389.2:c.1257G>A, NM_001349389.1:c.1257G>A, NM_001349386.2:c.1356G>A, NM_001349386.1:c.1356G>A, NM_001349387.2:c.1263G>A, NM_001349387.1:c.1263G>A, NM_001256750.2:c.1185G>A, NM_001256750.1:c.1185G>A, NM_001256751.2:c.1119G>A, NM_001256751.1:c.1119G>A, NM_001349390.2:c.1251G>A, NM_001349390.1:c.1251G>A, NM_001349393.2:c.1158G>A, NM_001349393.1:c.1158G>A, NM_001349408.2:c.615G>A, NM_001349408.1:c.615G>A, NM_001256752.2:c.1086G>A, NM_001256752.1:c.1086G>A, XM_024453592.2:c.1227G>A, XM_024453592.1:c.1227G>A, NM_001349395.2:c.1062G>A, NM_001349395.1:c.1062G>A, NM_001256754.2:c.1062G>A, NM_001256754.1:c.1062G>A, NM_001256753.2:c.1014G>A, NM_001256753.1:c.1014G>A, NM_001349391.2:c.1161G>A, NM_001349391.1:c.1161G>A, NM_001349399.2:c.615G>A, NM_001349399.1:c.615G>A, NM_001349394.2:c.1068G>A, NM_001349394.1:c.1068G>A, NM_001349396.2:c.990G>A, NM_001349396.1:c.990G>A, NM_001349406.2:c.615G>A, NM_001349406.1:c.615G>A, NM_001256756.2:c.615G>A, NM_001256756.1:c.615G>A, NR_146167.2:n.1271G>A, NR_146167.1:n.1266G>A, NM_001349409.2:c.615G>A, NM_001349409.1:c.615G>A, NM_001349398.2:c.924G>A, NM_001349398.1:c.924G>A, XM_024453593.2:c.1056G>A, XM_024453593.1:c.1056G>A, NM_001349401.2:c.615G>A, NM_001349401.1:c.615G>A, NM_001256755.2:c.867G>A, NM_001256755.1:c.867G>A, NM_001349410.2:c.615G>A, NM_001349410.1:c.615G>A, NM_001349404.2:c.615G>A, NM_001349404.1:c.615G>A, XM_047448297.1:c.996G>A, XM_047448298.1:c.891G>A, XM_047448299.1:c.819G>A

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