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Items: 1 to 20 of 503

1.

rs1491512315 has merged into rs930960591 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CGTCATGGGGCGGGGCCTCG>-,CGTCATGGGGCGGGGCCTCGCGTCATGGGGCGGGGCCTCG [Show Flanks]
    Chromosome:
    1:161177519 (GRCh38)
    1:161147309 (GRCh37)
    Canonical SPDI:
    NC_000001.11:161177514:CTCGCGTCATGGGGCGGGGCCTCG:CTCG,NC_000001.11:161177514:CTCGCGTCATGGGGCGGGGCCTCG:CTCGCGTCATGGGGCGGGGCCTCGCGTCATGGGGCGGGGCCTCG
    Gene:
    PPOX (Varview), B4GALT3 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTCGCGTCATGGGGCGGGGCCTCGCGTCATGGGGCGGGGCCTCG=0./0 (ALFA)
    -=0.000019/5 (TOPMED)
    HGVS:
    NC_000001.11:g.161177519_161177538del, NC_000001.11:g.161177519_161177538dup, NC_000001.10:g.161147309_161147328del, NC_000001.10:g.161147309_161147328dup, NG_012877.2:g.16129_16148del, NG_012877.2:g.16129_16148dup, NG_011480.1:g.4991_5010del, NG_011480.1:g.4991_5010dup, NM_001199873.1:c.-293_-274del, NM_001199873.1:c.-293_-274dup, NM_001199874.1:c.-222_-203del, NM_001199874.1:c.-222_-203dup, XM_005245291.5:c.1531_1550del, XM_005245291.5:c.1531_1550dup, XM_005245291.4:c.1531_1550del, XM_005245291.4:c.1531_1550dup, XM_005245291.3:c.1531_1550del, XM_005245291.3:c.1531_1550dup, XM_005245295.4:c.1123_1142del, XM_005245295.4:c.1123_1142dup, XM_005245295.3:c.1123_1142del, XM_005245295.3:c.1123_1142dup, XM_011509665.3:c.*437_*456del, XM_011509665.3:c.*437_*456dup, XM_011509665.2:c.*437_*456del, XM_011509665.2:c.*437_*456dup, XM_005245566.3:c.-467_-448del, XM_005245566.3:c.-467_-448dup, NM_003779.3:c.-272_-253del, NM_003779.3:c.-272_-253dup, XM_017002714.3:c.-293_-274del, XM_017002714.3:c.-293_-274dup, XM_017002714.2:c.-293_-274del, XM_017002714.2:c.-293_-274dup, XM_017002714.1:c.*4294966080_-283insCGAGGCCCCGCCCC, XM_017002714.1:c.-283_-278del, XM_017002714.1:c.*4294966080_-283insCGAGGCCCCGCCCCATGACGCGAGGCCCCGCCCC, XM_011510093.3:c.-272_-253del, XM_011510093.3:c.-272_-253dup, XM_011510093.1:c.*4294966101_-262insCGAGGCCCCGCCCC, XM_011510093.1:c.-262_-257del, XM_011510093.1:c.*4294966101_-262insCGAGGCCCCGCCCCATGACGCGAGGCCCCGCCCC, XM_011509663.3:c.1660_1679del, XM_011509663.3:c.1660_1679dup, XM_011509663.2:c.1660_1679del, XM_011509663.2:c.1660_1679dup, XM_011509663.1:c.1660_1679del, XM_011509663.1:c.1660_1679dup, XM_011509667.3:c.1546_1565del, XM_011509667.3:c.1546_1565dup, XM_011509667.2:c.1546_1565del, XM_011509667.2:c.1546_1565dup, XM_011509667.1:c.1546_1565del, XM_011509667.1:c.1546_1565dup, XM_011509670.3:c.1546_1565del, XM_011509670.3:c.1546_1565dup, XM_011509670.2:c.1546_1565del, XM_011509670.2:c.1546_1565dup, XM_011509670.1:c.1546_1565del, XM_011509670.1:c.1546_1565dup, XM_011509668.3:c.1546_1565del, XM_011509668.3:c.1546_1565dup, XM_011509668.2:c.1546_1565del, XM_011509668.2:c.1546_1565dup, XM_011509668.1:c.1546_1565del, XM_011509668.1:c.1546_1565dup, XM_011509673.3:c.1396_1415del, XM_011509673.3:c.1396_1415dup, XM_011509673.2:c.1396_1415del, XM_011509673.2:c.1396_1415dup, XM_011509673.1:c.1396_1415del, XM_011509673.1:c.1396_1415dup, XM_011509674.3:c.1369_1388del, XM_011509674.3:c.1369_1388dup, XM_011509674.2:c.1369_1388del, XM_011509674.2:c.1369_1388dup, XM_011509674.1:c.1369_1388del, XM_011509674.1:c.1369_1388dup, XM_024450540.2:c.-488_-469del, XM_024450540.2:c.-488_-469dup, XM_011509664.2:c.1645_1664del, XM_011509664.2:c.1645_1664dup, XM_011509664.1:c.1645_1664del, XM_011509664.1:c.1645_1664dup, XM_011509678.2:c.1123_1142del, XM_011509678.2:c.1123_1142dup, XM_011509678.1:c.1123_1142del, XM_011509678.1:c.1123_1142dup, XM_047423569.1:c.*437_*456del, XM_047423569.1:c.*437_*456dup, XM_047433402.1:c.-488_-469del, XM_047433402.1:c.-488_-469dup, XM_047433401.1:c.-467_-448del, XM_047433401.1:c.-467_-448dup, XM_047423581.1:c.1546_1565del, XM_047423581.1:c.1546_1565dup, XM_047423592.1:c.1123_1142del, XM_047423592.1:c.1123_1142dup, XM_047423604.1:c.829_848del, XM_047423604.1:c.829_848dup, XP_005245348.2:p.Arg511fs, XP_005245348.2:p.Gly518fs, XP_005245352.2:p.Arg375fs, XP_005245352.2:p.Gly382fs, XP_011507965.1:p.Arg554fs, XP_011507965.1:p.Gly561fs, XP_011507969.1:p.Arg516fs, XP_011507969.1:p.Gly523fs, XP_011507972.1:p.Arg516fs, XP_011507972.1:p.Gly523fs, XP_011507970.1:p.Arg516fs, XP_011507970.1:p.Gly523fs, XP_011507975.1:p.Arg466fs, XP_011507975.1:p.Gly473fs, XP_011507976.1:p.Arg457fs, XP_011507976.1:p.Gly464fs, XP_011507966.1:p.Arg549fs, XP_011507966.1:p.Gly556fs, XP_011507980.1:p.Arg375fs, XP_011507980.1:p.Gly382fs, XP_047279537.1:p.Arg516fs, XP_047279537.1:p.Gly523fs, XP_047279548.1:p.Arg375fs, XP_047279548.1:p.Gly382fs, XP_047279560.1:p.Arg277fs, XP_047279560.1:p.Gly284fs

    2.

    rs1491447157 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TC>- [Show Flanks]
      Chromosome:
      1:161177516 (GRCh38)
      1:161147306 (GRCh37)
      Canonical SPDI:
      NC_000001.11:161177513:TCTC:TC
      Gene:
      PPOX (Varview), B4GALT3 (Varview)
      Functional Consequence:
      frameshift_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TCTC=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      HGVS:
      NC_000001.11:g.161177514TC[1], NC_000001.10:g.161147304TC[1], NG_012877.2:g.16124TC[1], NG_011480.1:g.5008GA[1], NM_001199873.1:c.-276GA[1], NM_001199874.1:c.-205GA[1], XM_005245291.5:c.1528_1529del, XM_005245291.4:c.1528_1529del, XM_005245291.3:c.1528_1529del, XM_005245295.4:c.1120_1121del, XM_005245295.3:c.1120_1121del, XM_011509665.3:c.*432TC[1], XM_011509665.2:c.*432TC[1], XM_005245566.3:c.-450GA[1], NM_003779.3:c.-255GA[1], XM_017002714.3:c.-276GA[1], XM_017002714.2:c.-276GA[1], XM_017002714.1:c.-276GA[1], XM_011510093.3:c.-255GA[1], XM_011510093.1:c.-255GA[1], XM_011509663.3:c.1657_1658del, XM_011509663.2:c.1657_1658del, XM_011509663.1:c.1657_1658del, XM_011509667.3:c.1543_1544del, XM_011509667.2:c.1543_1544del, XM_011509667.1:c.1543_1544del, XM_011509670.3:c.1543_1544del, XM_011509670.2:c.1543_1544del, XM_011509670.1:c.1543_1544del, XM_011509668.3:c.1543_1544del, XM_011509668.2:c.1543_1544del, XM_011509668.1:c.1543_1544del, XM_011509673.3:c.1393_1394del, XM_011509673.2:c.1393_1394del, XM_011509673.1:c.1393_1394del, XM_011509674.3:c.1366_1367del, XM_011509674.2:c.1366_1367del, XM_011509674.1:c.1366_1367del, XM_024450540.2:c.-471GA[1], XM_011509664.2:c.1642_1643del, XM_011509664.1:c.1642_1643del, XM_011509678.2:c.1120_1121del, XM_011509678.1:c.1120_1121del, XM_047423569.1:c.*432TC[1], XM_047433402.1:c.-471GA[1], XM_047433401.1:c.-450GA[1], XM_047423581.1:c.1543_1544del, XM_047423592.1:c.1120_1121del, XM_047423604.1:c.826_827del, XP_005245348.2:p.Ser510fs, XP_005245352.2:p.Ser374fs, XP_011507965.1:p.Ser553fs, XP_011507969.1:p.Ser515fs, XP_011507972.1:p.Ser515fs, XP_011507970.1:p.Ser515fs, XP_011507975.1:p.Ser465fs, XP_011507976.1:p.Ser456fs, XP_011507966.1:p.Ser548fs, XP_011507980.1:p.Ser374fs, XP_047279537.1:p.Ser515fs, XP_047279548.1:p.Ser374fs, XP_047279560.1:p.Ser276fs

      3.

      rs1490904401 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:161167458 (GRCh38)
        1:161137248 (GRCh37)
        Canonical SPDI:
        NC_000001.11:161167457:G:A
        Gene:
        PPOX (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.161167458G>A, NC_000001.10:g.161137248G>A, NG_012877.2:g.6068G>A, NM_000309.5:c.310G>A, NM_000309.4:c.310G>A, NM_000309.3:c.310G>A, NM_001122764.3:c.310G>A, NM_001122764.2:c.310G>A, NM_001122764.1:c.310G>A, NM_001350130.2:c.-177G>A, NM_001350130.1:c.-177G>A, NM_001350129.2:c.-118G>A, NM_001350129.1:c.-118G>A, NM_001350128.2:c.325G>A, NM_001350128.1:c.325G>A, NM_001350131.2:c.-63G>A, NM_001350131.1:c.-63G>A, NM_001365399.1:c.310G>A, NM_001365398.1:c.310G>A, XM_005245291.5:c.310G>A, XM_005245291.4:c.310G>A, XM_005245291.3:c.310G>A, XM_005245291.2:c.310G>A, XM_005245291.1:c.310G>A, XM_006711404.5:c.325G>A, XM_006711404.4:c.439G>A, XM_006711404.3:c.439G>A, XM_006711404.2:c.325G>A, XM_006711404.1:c.325G>A, XM_011509672.4:c.325G>A, XM_011509672.3:c.439G>A, XM_011509672.2:c.439G>A, XM_011509672.1:c.439G>A, XM_011509665.3:c.439G>A, XM_011509665.2:c.439G>A, XM_011509665.1:c.439G>A, XM_011509663.3:c.439G>A, XM_011509663.2:c.439G>A, XM_011509663.1:c.439G>A, XM_011509667.3:c.325G>A, XM_011509667.2:c.325G>A, XM_011509667.1:c.325G>A, XM_011509670.3:c.439G>A, XM_011509670.2:c.439G>A, XM_011509670.1:c.439G>A, XM_011509668.3:c.325G>A, XM_011509668.2:c.325G>A, XM_011509668.1:c.325G>A, XM_011509674.3:c.439G>A, XM_011509674.2:c.439G>A, XM_011509674.1:c.439G>A, XM_017001566.3:c.-118G>A, XM_017001566.2:c.-118G>A, XM_017001566.1:c.-118G>A, XM_011509664.2:c.424G>A, XM_011509664.1:c.424G>A, XM_011509678.2:c.-118G>A, XM_011509678.1:c.-118G>A, XM_011509671.2:c.424G>A, XM_011509671.1:c.424G>A, XM_047423569.1:c.424G>A, XM_047423581.1:c.325G>A, XR_007061329.1:n.650G>A, NP_000300.1:p.Ala104Thr, NP_001116236.1:p.Ala104Thr, NP_001337057.1:p.Ala109Thr, NP_001352328.1:p.Ala104Thr, NP_001352327.1:p.Ala104Thr, XP_005245348.2:p.Ala104Thr, XP_006711467.3:p.Ala109Thr, XP_011507974.2:p.Ala109Thr, XP_011507967.1:p.Ala147Thr, XP_011507965.1:p.Ala147Thr, XP_011507969.1:p.Ala109Thr, XP_011507972.1:p.Ala147Thr, XP_011507970.1:p.Ala109Thr, XP_011507976.1:p.Ala147Thr, XP_011507966.1:p.Ala142Thr, XP_011507973.1:p.Ala142Thr, XP_047279525.1:p.Ala142Thr, XP_047279537.1:p.Ala109Thr

        4.

        rs1486467781 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:161168554 (GRCh38)
          1:161138344 (GRCh37)
          Canonical SPDI:
          NC_000001.11:161168553:A:C
          Gene:
          PPOX (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.161168554A>C, NC_000001.10:g.161138344A>C, NG_012877.2:g.7164A>C, NM_000309.5:c.594A>C, NM_000309.4:c.594A>C, NM_000309.3:c.594A>C, NM_001122764.3:c.594A>C, NM_001122764.2:c.594A>C, NM_001122764.1:c.594A>C, NM_001350130.2:c.108A>C, NM_001350130.1:c.108A>C, NM_001350129.2:c.186A>C, NM_001350129.1:c.186A>C, NM_001350128.2:c.495A>C, NM_001350128.1:c.495A>C, NM_001350131.2:c.108A>C, NM_001350131.1:c.108A>C, NM_001365399.1:c.594A>C, NM_001365398.1:c.594A>C, NM_001365400.1:c.186A>C, NM_001365401.1:c.108A>C, XM_005245291.5:c.594A>C, XM_005245291.4:c.594A>C, XM_005245291.3:c.594A>C, XM_005245291.2:c.594A>C, XM_005245291.1:c.594A>C, XM_006711404.5:c.609A>C, XM_006711404.4:c.723A>C, XM_006711404.3:c.723A>C, XM_006711404.2:c.609A>C, XM_006711404.1:c.609A>C, XM_005245295.4:c.186A>C, XM_005245295.3:c.186A>C, XM_005245295.2:c.186A>C, XM_005245295.1:c.186A>C, XM_011509672.4:c.495A>C, XM_011509672.3:c.609A>C, XM_011509672.2:c.609A>C, XM_011509672.1:c.609A>C, XM_011509665.3:c.723A>C, XM_011509665.2:c.723A>C, XM_011509665.1:c.723A>C, XM_011509663.3:c.723A>C, XM_011509663.2:c.723A>C, XM_011509663.1:c.723A>C, XM_011509667.3:c.609A>C, XM_011509667.2:c.609A>C, XM_011509667.1:c.609A>C, XM_011509670.3:c.609A>C, XM_011509670.2:c.609A>C, XM_011509670.1:c.609A>C, XM_011509668.3:c.609A>C, XM_011509668.2:c.609A>C, XM_011509668.1:c.609A>C, XM_011509673.3:c.459A>C, XM_011509673.2:c.459A>C, XM_011509673.1:c.459A>C, XM_011509674.3:c.723A>C, XM_011509674.2:c.723A>C, XM_011509674.1:c.723A>C, XM_017001566.3:c.186A>C, XM_017001566.2:c.186A>C, XM_017001566.1:c.186A>C, XM_011509664.2:c.708A>C, XM_011509664.1:c.708A>C, XM_011509678.2:c.186A>C, XM_011509678.1:c.186A>C, XM_011509671.2:c.708A>C, XM_011509671.1:c.708A>C, XM_024447864.2:c.345A>C, XM_024447864.1:c.459A>C, XM_047423569.1:c.708A>C, XM_047423581.1:c.609A>C, XM_047423592.1:c.186A>C, XR_007061329.1:n.934A>C, NP_000300.1:p.Leu198Phe, NP_001116236.1:p.Leu198Phe, NP_001337059.1:p.Leu36Phe, NP_001337058.1:p.Leu62Phe, NP_001337057.1:p.Leu165Phe, NP_001337060.1:p.Leu36Phe, NP_001352328.1:p.Leu198Phe, NP_001352327.1:p.Leu198Phe, NP_001352329.1:p.Leu62Phe, NP_001352330.1:p.Leu36Phe, XP_005245348.2:p.Leu198Phe, XP_006711467.3:p.Leu203Phe, XP_005245352.2:p.Leu62Phe, XP_011507974.2:p.Leu165Phe, XP_011507967.1:p.Leu241Phe, XP_011507965.1:p.Leu241Phe, XP_011507969.1:p.Leu203Phe, XP_011507972.1:p.Leu203Phe, XP_011507970.1:p.Leu203Phe, XP_011507975.1:p.Leu153Phe, XP_011507976.1:p.Leu241Phe, XP_016857055.1:p.Leu62Phe, XP_011507966.1:p.Leu236Phe, XP_011507980.1:p.Leu62Phe, XP_011507973.1:p.Leu236Phe, XP_024303632.2:p.Leu115Phe, XP_047279525.1:p.Leu236Phe, XP_047279537.1:p.Leu203Phe, XP_047279548.1:p.Leu62Phe

          5.

          rs1484943083 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:161176994 (GRCh38)
            1:161146784 (GRCh37)
            Canonical SPDI:
            NC_000001.11:161176993:T:C
            Gene:
            PPOX (Varview), B4GALT3 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000054/1 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            C=0.000223/1 (Estonian)
            HGVS:
            NC_000001.11:g.161176994T>C, NC_000001.10:g.161146784T>C, NG_012877.2:g.15604T>C, NG_011480.1:g.5531A>G, XM_005245291.5:c.1394T>C, XM_005245291.4:c.1394T>C, XM_005245291.3:c.1394T>C, XM_005245291.2:c.1394T>C, XM_005245291.1:c.1394T>C, XM_005245295.4:c.986T>C, XM_005245295.3:c.986T>C, XM_005245295.2:c.986T>C, XM_005245295.1:c.986T>C, XM_011509665.3:c.1523T>C, XM_011509665.2:c.1523T>C, XM_011509665.1:c.1523T>C, XM_005245566.3:c.-243A>G, XM_005245566.2:c.-243A>G, XM_005245566.1:c.-243A>G, XM_011509663.3:c.1523T>C, XM_011509663.2:c.1523T>C, XM_011509663.1:c.1523T>C, XM_011509667.3:c.1409T>C, XM_011509667.2:c.1409T>C, XM_011509667.1:c.1409T>C, XM_011509670.3:c.1409T>C, XM_011509670.2:c.1409T>C, XM_011509670.1:c.1409T>C, XM_011509668.3:c.1409T>C, XM_011509668.2:c.1409T>C, XM_011509668.1:c.1409T>C, XM_011509673.3:c.1259T>C, XM_011509673.2:c.1259T>C, XM_011509673.1:c.1259T>C, XM_011509674.3:c.1232T>C, XM_011509674.2:c.1232T>C, XM_011509674.1:c.1232T>C, XM_024450540.2:c.-264A>G, XM_024450540.1:c.-264A>G, XM_011509664.2:c.1508T>C, XM_011509664.1:c.1508T>C, XM_011509678.2:c.986T>C, XM_011509678.1:c.986T>C, XM_047423569.1:c.1508T>C, XM_047433402.1:c.-264A>G, XM_047433401.1:c.-243A>G, XM_047423581.1:c.1409T>C, XM_047423592.1:c.986T>C, XM_047423604.1:c.692T>C, XP_005245348.2:p.Leu465Pro, XP_005245352.2:p.Leu329Pro, XP_011507967.1:p.Leu508Pro, XP_011507965.1:p.Leu508Pro, XP_011507969.1:p.Leu470Pro, XP_011507972.1:p.Leu470Pro, XP_011507970.1:p.Leu470Pro, XP_011507975.1:p.Leu420Pro, XP_011507976.1:p.Leu411Pro, XP_011507966.1:p.Leu503Pro, XP_011507980.1:p.Leu329Pro, XP_047279525.1:p.Leu503Pro, XP_047279537.1:p.Leu470Pro, XP_047279548.1:p.Leu329Pro, XP_047279560.1:p.Leu231Pro

            6.

            rs1484062472 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              1:161170675 (GRCh38)
              1:161140465 (GRCh37)
              Canonical SPDI:
              NC_000001.11:161170674:C:G,NC_000001.11:161170674:C:T
              Gene:
              PPOX (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000028/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.161170675C>G, NC_000001.11:g.161170675C>T, NC_000001.10:g.161140465C>G, NC_000001.10:g.161140465C>T, NG_012877.2:g.9285C>G, NG_012877.2:g.9285C>T, NM_000309.5:c.1154C>G, NM_000309.5:c.1154C>T, NM_000309.4:c.1154C>G, NM_000309.4:c.1154C>T, NM_000309.3:c.1154C>G, NM_000309.3:c.1154C>T, NM_001122764.3:c.1154C>G, NM_001122764.3:c.1154C>T, NM_001122764.2:c.1154C>G, NM_001122764.2:c.1154C>T, NM_001122764.1:c.1154C>G, NM_001122764.1:c.1154C>T, NM_001350130.2:c.668C>G, NM_001350130.2:c.668C>T, NM_001350130.1:c.668C>G, NM_001350130.1:c.668C>T, NM_001350129.2:c.746C>G, NM_001350129.2:c.746C>T, NM_001350129.1:c.746C>G, NM_001350129.1:c.746C>T, NM_001350128.2:c.1055C>G, NM_001350128.2:c.1055C>T, NM_001350128.1:c.1055C>G, NM_001350128.1:c.1055C>T, NM_001350131.2:c.668C>G, NM_001350131.2:c.668C>T, NM_001350131.1:c.668C>G, NM_001350131.1:c.668C>T, NM_001365399.1:c.1043C>G, NM_001365399.1:c.1043C>T, NM_001365398.1:c.1154C>G, NM_001365398.1:c.1154C>T, NM_001365400.1:c.746C>G, NM_001365400.1:c.746C>T, NM_001365401.1:c.668C>G, NM_001365401.1:c.668C>T, NG_011480.1:g.11850G>C, NG_011480.1:g.11850G>A, XM_005245291.5:c.1154C>G, XM_005245291.5:c.1154C>T, XM_005245291.4:c.1154C>G, XM_005245291.4:c.1154C>T, XM_005245291.3:c.1154C>G, XM_005245291.3:c.1154C>T, XM_005245291.2:c.1154C>G, XM_005245291.2:c.1154C>T, XM_005245291.1:c.1154C>G, XM_005245291.1:c.1154C>T, XM_006711404.5:c.1169C>G, XM_006711404.5:c.1169C>T, XM_006711404.4:c.1283C>G, XM_006711404.4:c.1283C>T, XM_006711404.3:c.1283C>G, XM_006711404.3:c.1283C>T, XM_006711404.2:c.1169C>G, XM_006711404.2:c.1169C>T, XM_006711404.1:c.1169C>G, XM_006711404.1:c.1169C>T, XM_005245295.4:c.746C>G, XM_005245295.4:c.746C>T, XM_005245295.3:c.746C>G, XM_005245295.3:c.746C>T, XM_005245295.2:c.746C>G, XM_005245295.2:c.746C>T, XM_005245295.1:c.746C>G, XM_005245295.1:c.746C>T, XM_011509672.4:c.1055C>G, XM_011509672.4:c.1055C>T, XM_011509672.3:c.1169C>G, XM_011509672.3:c.1169C>T, XM_011509672.2:c.1169C>G, XM_011509672.2:c.1169C>T, XM_011509672.1:c.1169C>G, XM_011509672.1:c.1169C>T, XM_011509665.3:c.1283C>G, XM_011509665.3:c.1283C>T, XM_011509665.2:c.1283C>G, XM_011509665.2:c.1283C>T, XM_011509665.1:c.1283C>G, XM_011509665.1:c.1283C>T, XM_011509663.3:c.1283C>G, XM_011509663.3:c.1283C>T, XM_011509663.2:c.1283C>G, XM_011509663.2:c.1283C>T, XM_011509663.1:c.1283C>G, XM_011509663.1:c.1283C>T, XM_011509667.3:c.1169C>G, XM_011509667.3:c.1169C>T, XM_011509667.2:c.1169C>G, XM_011509667.2:c.1169C>T, XM_011509667.1:c.1169C>G, XM_011509667.1:c.1169C>T, XM_011509670.3:c.1169C>G, XM_011509670.3:c.1169C>T, XM_011509670.2:c.1169C>G, XM_011509670.2:c.1169C>T, XM_011509670.1:c.1169C>G, XM_011509670.1:c.1169C>T, XM_011509668.3:c.1169C>G, XM_011509668.3:c.1169C>T, XM_011509668.2:c.1169C>G, XM_011509668.2:c.1169C>T, XM_011509668.1:c.1169C>G, XM_011509668.1:c.1169C>T, XM_011509673.3:c.1019C>G, XM_011509673.3:c.1019C>T, XM_011509673.2:c.1019C>G, XM_011509673.2:c.1019C>T, XM_011509673.1:c.1019C>G, XM_011509673.1:c.1019C>T, XM_011509674.3:c.992C>G, XM_011509674.3:c.992C>T, XM_011509674.2:c.992C>G, XM_011509674.2:c.992C>T, XM_011509674.1:c.992C>G, XM_011509674.1:c.992C>T, XM_017001566.3:c.746C>G, XM_017001566.3:c.746C>T, XM_017001566.2:c.746C>G, XM_017001566.2:c.746C>T, XM_017001566.1:c.746C>G, XM_017001566.1:c.746C>T, XM_011509664.2:c.1268C>G, XM_011509664.2:c.1268C>T, XM_011509664.1:c.1268C>G, XM_011509664.1:c.1268C>T, XM_011509678.2:c.746C>G, XM_011509678.2:c.746C>T, XM_011509678.1:c.746C>G, XM_011509678.1:c.746C>T, XM_011509671.2:c.1268C>G, XM_011509671.2:c.1268C>T, XM_011509671.1:c.1268C>G, XM_011509671.1:c.1268C>T, XM_024447864.2:c.905C>G, XM_024447864.2:c.905C>T, XM_024447864.1:c.1019C>G, XM_024447864.1:c.1019C>T, XM_047423569.1:c.1268C>G, XM_047423569.1:c.1268C>T, XM_047423581.1:c.1169C>G, XM_047423581.1:c.1169C>T, XM_047423592.1:c.746C>G, XM_047423592.1:c.746C>T, XM_047423604.1:c.452C>G, XM_047423604.1:c.452C>T, XR_007061329.1:n.1375C>G, XR_007061329.1:n.1375C>T, NP_000300.1:p.Ser385Cys, NP_000300.1:p.Ser385Phe, NP_001116236.1:p.Ser385Cys, NP_001116236.1:p.Ser385Phe, NP_001337059.1:p.Ser223Cys, NP_001337059.1:p.Ser223Phe, NP_001337058.1:p.Ser249Cys, NP_001337058.1:p.Ser249Phe, NP_001337057.1:p.Ser352Cys, NP_001337057.1:p.Ser352Phe, NP_001337060.1:p.Ser223Cys, NP_001337060.1:p.Ser223Phe, NP_001352328.1:p.Ser348Cys, NP_001352328.1:p.Ser348Phe, NP_001352327.1:p.Ser385Cys, NP_001352327.1:p.Ser385Phe, NP_001352329.1:p.Ser249Cys, NP_001352329.1:p.Ser249Phe, NP_001352330.1:p.Ser223Cys, NP_001352330.1:p.Ser223Phe, XP_005245348.2:p.Ser385Cys, XP_005245348.2:p.Ser385Phe, XP_006711467.3:p.Ser390Cys, XP_006711467.3:p.Ser390Phe, XP_005245352.2:p.Ser249Cys, XP_005245352.2:p.Ser249Phe, XP_011507974.2:p.Ser352Cys, XP_011507974.2:p.Ser352Phe, XP_011507967.1:p.Ser428Cys, XP_011507967.1:p.Ser428Phe, XP_011507965.1:p.Ser428Cys, XP_011507965.1:p.Ser428Phe, XP_011507969.1:p.Ser390Cys, XP_011507969.1:p.Ser390Phe, XP_011507972.1:p.Ser390Cys, XP_011507972.1:p.Ser390Phe, XP_011507970.1:p.Ser390Cys, XP_011507970.1:p.Ser390Phe, XP_011507975.1:p.Ser340Cys, XP_011507975.1:p.Ser340Phe, XP_011507976.1:p.Ser331Cys, XP_011507976.1:p.Ser331Phe, XP_016857055.1:p.Ser249Cys, XP_016857055.1:p.Ser249Phe, XP_011507966.1:p.Ser423Cys, XP_011507966.1:p.Ser423Phe, XP_011507980.1:p.Ser249Cys, XP_011507980.1:p.Ser249Phe, XP_011507973.1:p.Ser423Cys, XP_011507973.1:p.Ser423Phe, XP_024303632.2:p.Ser302Cys, XP_024303632.2:p.Ser302Phe, XP_047279525.1:p.Ser423Cys, XP_047279525.1:p.Ser423Phe, XP_047279537.1:p.Ser390Cys, XP_047279537.1:p.Ser390Phe, XP_047279548.1:p.Ser249Cys, XP_047279548.1:p.Ser249Phe, XP_047279560.1:p.Ser151Cys, XP_047279560.1:p.Ser151Phe

              7.

              rs1482492935 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:161177419 (GRCh38)
                1:161147209 (GRCh37)
                Canonical SPDI:
                NC_000001.11:161177418:A:G
                Gene:
                PPOX (Varview), B4GALT3 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.161177419A>G, NC_000001.10:g.161147209A>G, NG_012877.2:g.16029A>G, NG_011480.1:g.5106T>C, XM_005245291.5:c.1431A>G, XM_005245291.4:c.1431A>G, XM_005245291.3:c.1431A>G, XM_005245295.4:c.1023A>G, XM_005245295.3:c.1023A>G, XM_011509665.3:c.*337A>G, XM_011509665.2:c.*337A>G, XM_011509663.3:c.1560A>G, XM_011509663.2:c.1560A>G, XM_011509663.1:c.1560A>G, XM_011509667.3:c.1446A>G, XM_011509667.2:c.1446A>G, XM_011509667.1:c.1446A>G, XM_011509670.3:c.1446A>G, XM_011509670.2:c.1446A>G, XM_011509670.1:c.1446A>G, XM_011509668.3:c.1446A>G, XM_011509668.2:c.1446A>G, XM_011509668.1:c.1446A>G, XM_011509673.3:c.1296A>G, XM_011509673.2:c.1296A>G, XM_011509673.1:c.1296A>G, XM_011509674.3:c.1269A>G, XM_011509674.2:c.1269A>G, XM_011509674.1:c.1269A>G, XM_011509664.2:c.1545A>G, XM_011509664.1:c.1545A>G, XM_024450541.2:c.-431T>C, XM_011509678.2:c.1023A>G, XM_011509678.1:c.1023A>G, XM_047423569.1:c.*337A>G, XM_047433399.1:c.-410T>C, XM_047423581.1:c.1446A>G, XM_047423592.1:c.1023A>G, XM_047423604.1:c.729A>G

                8.

                rs1481546963 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:161168526 (GRCh38)
                  1:161138316 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:161168525:A:C
                  Gene:
                  PPOX (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_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_000001.11:g.161168526A>C, NC_000001.10:g.161138316A>C, NG_012877.2:g.7136A>C, NM_000309.5:c.566A>C, NM_000309.4:c.566A>C, NM_000309.3:c.566A>C, NM_001122764.3:c.566A>C, NM_001122764.2:c.566A>C, NM_001122764.1:c.566A>C, NM_001350130.2:c.80A>C, NM_001350130.1:c.80A>C, NM_001350129.2:c.158A>C, NM_001350129.1:c.158A>C, NM_001350128.2:c.467A>C, NM_001350128.1:c.467A>C, NM_001350131.2:c.80A>C, NM_001350131.1:c.80A>C, NM_001365399.1:c.566A>C, NM_001365398.1:c.566A>C, NM_001365400.1:c.158A>C, NM_001365401.1:c.80A>C, XM_005245291.5:c.566A>C, XM_005245291.4:c.566A>C, XM_005245291.3:c.566A>C, XM_005245291.2:c.566A>C, XM_005245291.1:c.566A>C, XM_006711404.5:c.581A>C, XM_006711404.4:c.695A>C, XM_006711404.3:c.695A>C, XM_006711404.2:c.581A>C, XM_006711404.1:c.581A>C, XM_005245295.4:c.158A>C, XM_005245295.3:c.158A>C, XM_005245295.2:c.158A>C, XM_005245295.1:c.158A>C, XM_011509672.4:c.467A>C, XM_011509672.3:c.581A>C, XM_011509672.2:c.581A>C, XM_011509672.1:c.581A>C, XM_011509665.3:c.695A>C, XM_011509665.2:c.695A>C, XM_011509665.1:c.695A>C, XM_011509663.3:c.695A>C, XM_011509663.2:c.695A>C, XM_011509663.1:c.695A>C, XM_011509667.3:c.581A>C, XM_011509667.2:c.581A>C, XM_011509667.1:c.581A>C, XM_011509670.3:c.581A>C, XM_011509670.2:c.581A>C, XM_011509670.1:c.581A>C, XM_011509668.3:c.581A>C, XM_011509668.2:c.581A>C, XM_011509668.1:c.581A>C, XM_011509673.3:c.431A>C, XM_011509673.2:c.431A>C, XM_011509673.1:c.431A>C, XM_011509674.3:c.695A>C, XM_011509674.2:c.695A>C, XM_011509674.1:c.695A>C, XM_017001566.3:c.158A>C, XM_017001566.2:c.158A>C, XM_017001566.1:c.158A>C, XM_011509664.2:c.680A>C, XM_011509664.1:c.680A>C, XM_011509678.2:c.158A>C, XM_011509678.1:c.158A>C, XM_011509671.2:c.680A>C, XM_011509671.1:c.680A>C, XM_024447864.2:c.317A>C, XM_024447864.1:c.431A>C, XM_047423569.1:c.680A>C, XM_047423581.1:c.581A>C, XM_047423592.1:c.158A>C, XR_007061329.1:n.906A>C, NP_000300.1:p.Gln189Pro, NP_001116236.1:p.Gln189Pro, NP_001337059.1:p.Gln27Pro, NP_001337058.1:p.Gln53Pro, NP_001337057.1:p.Gln156Pro, NP_001337060.1:p.Gln27Pro, NP_001352328.1:p.Gln189Pro, NP_001352327.1:p.Gln189Pro, NP_001352329.1:p.Gln53Pro, NP_001352330.1:p.Gln27Pro, XP_005245348.2:p.Gln189Pro, XP_006711467.3:p.Gln194Pro, XP_005245352.2:p.Gln53Pro, XP_011507974.2:p.Gln156Pro, XP_011507967.1:p.Gln232Pro, XP_011507965.1:p.Gln232Pro, XP_011507969.1:p.Gln194Pro, XP_011507972.1:p.Gln194Pro, XP_011507970.1:p.Gln194Pro, XP_011507975.1:p.Gln144Pro, XP_011507976.1:p.Gln232Pro, XP_016857055.1:p.Gln53Pro, XP_011507966.1:p.Gln227Pro, XP_011507980.1:p.Gln53Pro, XP_011507973.1:p.Gln227Pro, XP_024303632.2:p.Gln106Pro, XP_047279525.1:p.Gln227Pro, XP_047279537.1:p.Gln194Pro, XP_047279548.1:p.Gln53Pro

                  9.

                  rs1481171049 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TGACA>- [Show Flanks]
                    Chromosome:
                    1:161176881 (GRCh38)
                    1:161146671 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:161176878:CATGACA:CA
                    Gene:
                    PPOX (Varview), B4GALT3 (Varview)
                    Functional Consequence:
                    intron_variant,frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CA=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000007/1 (GnomAD_exomes)
                    -=0.000008/2 (TOPMED)
                    -=0.000779/13 (TOMMO)
                    HGVS:
                    NC_000001.11:g.161176881_161176885del, NC_000001.10:g.161146671_161146675del, NG_012877.2:g.15491_15495del, NG_011480.1:g.5642_5646del, XM_005245291.5:c.1281_1285del, XM_005245291.4:c.1281_1285del, XM_005245291.3:c.1281_1285del, XM_005245291.2:c.1281_1285del, XM_005245291.1:c.1281_1285del, XM_005245295.4:c.873_877del, XM_005245295.3:c.873_877del, XM_005245295.2:c.873_877del, XM_005245295.1:c.873_877del, XM_011509665.3:c.1410_1414del, XM_011509665.2:c.1410_1414del, XM_011509665.1:c.1410_1414del, XM_011509663.3:c.1410_1414del, XM_011509663.2:c.1410_1414del, XM_011509663.1:c.1410_1414del, XM_011509667.3:c.1296_1300del, XM_011509667.2:c.1296_1300del, XM_011509667.1:c.1296_1300del, XM_011509670.3:c.1296_1300del, XM_011509670.2:c.1296_1300del, XM_011509670.1:c.1296_1300del, XM_011509668.3:c.1296_1300del, XM_011509668.2:c.1296_1300del, XM_011509668.1:c.1296_1300del, XM_011509673.3:c.1146_1150del, XM_011509673.2:c.1146_1150del, XM_011509673.1:c.1146_1150del, XM_011509674.3:c.1119_1123del, XM_011509674.2:c.1119_1123del, XM_011509674.1:c.1119_1123del, XM_011509664.2:c.1395_1399del, XM_011509664.1:c.1395_1399del, XM_011509678.2:c.873_877del, XM_011509678.1:c.873_877del, XM_047423569.1:c.1395_1399del, XM_047423581.1:c.1296_1300del, XM_047423592.1:c.873_877del, XM_047423604.1:c.579_583del, XP_005245348.2:p.His427fs, XP_005245352.2:p.His291fs, XP_011507967.1:p.His470fs, XP_011507965.1:p.His470fs, XP_011507969.1:p.His432fs, XP_011507972.1:p.His432fs, XP_011507970.1:p.His432fs, XP_011507975.1:p.His382fs, XP_011507976.1:p.His373fs, XP_011507966.1:p.His465fs, XP_011507980.1:p.His291fs, XP_047279525.1:p.His465fs, XP_047279537.1:p.His432fs, XP_047279548.1:p.His291fs, XP_047279560.1:p.His193fs

                    10.

                    rs1481155407 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:161177400 (GRCh38)
                      1:161147190 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:161177399:C:T
                      Gene:
                      PPOX (Varview), B4GALT3 (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.161177400C>T, NC_000001.10:g.161147190C>T, NG_012877.2:g.16010C>T, NG_011480.1:g.5125G>A, XM_005245291.5:c.1412C>T, XM_005245291.4:c.1412C>T, XM_005245291.3:c.1412C>T, XM_005245295.4:c.1004C>T, XM_005245295.3:c.1004C>T, XM_011509665.3:c.*318C>T, XM_011509665.2:c.*318C>T, XM_011509663.3:c.1541C>T, XM_011509663.2:c.1541C>T, XM_011509663.1:c.1541C>T, XM_011509667.3:c.1427C>T, XM_011509667.2:c.1427C>T, XM_011509667.1:c.1427C>T, XM_011509670.3:c.1427C>T, XM_011509670.2:c.1427C>T, XM_011509670.1:c.1427C>T, XM_011509668.3:c.1427C>T, XM_011509668.2:c.1427C>T, XM_011509668.1:c.1427C>T, XM_011509673.3:c.1277C>T, XM_011509673.2:c.1277C>T, XM_011509673.1:c.1277C>T, XM_011509674.3:c.1250C>T, XM_011509674.2:c.1250C>T, XM_011509674.1:c.1250C>T, XM_011509664.2:c.1526C>T, XM_011509664.1:c.1526C>T, XM_024450541.2:c.-412G>A, XM_011509678.2:c.1004C>T, XM_011509678.1:c.1004C>T, XM_047423569.1:c.*318C>T, XM_047433399.1:c.-391G>A, XM_047423581.1:c.1427C>T, XM_047423592.1:c.1004C>T, XM_047423604.1:c.710C>T, XP_005245348.2:p.Ser471Leu, XP_005245352.2:p.Ser335Leu, XP_011507965.1:p.Ser514Leu, XP_011507969.1:p.Ser476Leu, XP_011507972.1:p.Ser476Leu, XP_011507970.1:p.Ser476Leu, XP_011507975.1:p.Ser426Leu, XP_011507976.1:p.Ser417Leu, XP_011507966.1:p.Ser509Leu, XP_011507980.1:p.Ser335Leu, XP_047279537.1:p.Ser476Leu, XP_047279548.1:p.Ser335Leu, XP_047279560.1:p.Ser237Leu

                      11.

                      rs1480794596 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:161169153 (GRCh38)
                        1:161138943 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:161169152:G:A
                        Gene:
                        PPOX (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        NC_000001.11:g.161169153G>A, NC_000001.10:g.161138943G>A, NG_012877.2:g.7763G>A, NM_000309.5:c.777G>A, NM_000309.4:c.777G>A, NM_000309.3:c.777G>A, NM_001122764.3:c.777G>A, NM_001122764.2:c.777G>A, NM_001122764.1:c.777G>A, NM_001350130.2:c.291G>A, NM_001350130.1:c.291G>A, NM_001350129.2:c.369G>A, NM_001350129.1:c.369G>A, NM_001350128.2:c.678G>A, NM_001350128.1:c.678G>A, NM_001350131.2:c.291G>A, NM_001350131.1:c.291G>A, NM_001365399.1:c.777G>A, NM_001365398.1:c.777G>A, NM_001365400.1:c.369G>A, NM_001365401.1:c.291G>A, XM_005245291.5:c.777G>A, XM_005245291.4:c.777G>A, XM_005245291.3:c.777G>A, XM_005245291.2:c.777G>A, XM_005245291.1:c.777G>A, XM_006711404.5:c.792G>A, XM_006711404.4:c.906G>A, XM_006711404.3:c.906G>A, XM_006711404.2:c.792G>A, XM_006711404.1:c.792G>A, XM_005245295.4:c.369G>A, XM_005245295.3:c.369G>A, XM_005245295.2:c.369G>A, XM_005245295.1:c.369G>A, XM_011509672.4:c.678G>A, XM_011509672.3:c.792G>A, XM_011509672.2:c.792G>A, XM_011509672.1:c.792G>A, XM_011509665.3:c.906G>A, XM_011509665.2:c.906G>A, XM_011509665.1:c.906G>A, XM_011509663.3:c.906G>A, XM_011509663.2:c.906G>A, XM_011509663.1:c.906G>A, XM_011509667.3:c.792G>A, XM_011509667.2:c.792G>A, XM_011509667.1:c.792G>A, XM_011509670.3:c.792G>A, XM_011509670.2:c.792G>A, XM_011509670.1:c.792G>A, XM_011509668.3:c.792G>A, XM_011509668.2:c.792G>A, XM_011509668.1:c.792G>A, XM_011509673.3:c.642G>A, XM_011509673.2:c.642G>A, XM_011509673.1:c.642G>A, XM_011509674.3:c.906G>A, XM_011509674.2:c.906G>A, XM_011509674.1:c.906G>A, XM_017001566.3:c.369G>A, XM_017001566.2:c.369G>A, XM_017001566.1:c.369G>A, XM_011509664.2:c.891G>A, XM_011509664.1:c.891G>A, XM_011509678.2:c.369G>A, XM_011509678.1:c.369G>A, XM_011509671.2:c.891G>A, XM_011509671.1:c.891G>A, XM_024447864.2:c.528G>A, XM_024447864.1:c.642G>A, XM_047423569.1:c.891G>A, XM_047423581.1:c.792G>A, XM_047423592.1:c.369G>A, XM_047423604.1:c.75G>A, XR_007061329.1:n.1117G>A

                        12.

                        rs1480743588 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:161167451 (GRCh38)
                          1:161137241 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:161167450:G:A
                          Gene:
                          PPOX (Varview)
                          Functional Consequence:
                          synonymous_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0./0 (GnomAD)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.161167451G>A, NC_000001.10:g.161137241G>A, NG_012877.2:g.6061G>A, NM_000309.5:c.303G>A, NM_000309.4:c.303G>A, NM_000309.3:c.303G>A, NM_001122764.3:c.303G>A, NM_001122764.2:c.303G>A, NM_001122764.1:c.303G>A, NM_001350130.2:c.-184G>A, NM_001350130.1:c.-184G>A, NM_001350129.2:c.-125G>A, NM_001350129.1:c.-125G>A, NM_001350128.2:c.318G>A, NM_001350128.1:c.318G>A, NM_001350131.2:c.-70G>A, NM_001350131.1:c.-70G>A, NM_001365399.1:c.303G>A, NM_001365398.1:c.303G>A, XM_005245291.5:c.303G>A, XM_005245291.4:c.303G>A, XM_005245291.3:c.303G>A, XM_005245291.2:c.303G>A, XM_005245291.1:c.303G>A, XM_006711404.5:c.318G>A, XM_006711404.4:c.432G>A, XM_006711404.3:c.432G>A, XM_006711404.2:c.318G>A, XM_006711404.1:c.318G>A, XM_011509672.4:c.318G>A, XM_011509672.3:c.432G>A, XM_011509672.2:c.432G>A, XM_011509672.1:c.432G>A, XM_011509665.3:c.432G>A, XM_011509665.2:c.432G>A, XM_011509665.1:c.432G>A, XM_011509663.3:c.432G>A, XM_011509663.2:c.432G>A, XM_011509663.1:c.432G>A, XM_011509667.3:c.318G>A, XM_011509667.2:c.318G>A, XM_011509667.1:c.318G>A, XM_011509670.3:c.432G>A, XM_011509670.2:c.432G>A, XM_011509670.1:c.432G>A, XM_011509668.3:c.318G>A, XM_011509668.2:c.318G>A, XM_011509668.1:c.318G>A, XM_011509674.3:c.432G>A, XM_011509674.2:c.432G>A, XM_011509674.1:c.432G>A, XM_017001566.3:c.-125G>A, XM_017001566.2:c.-125G>A, XM_017001566.1:c.-125G>A, XM_011509664.2:c.417G>A, XM_011509664.1:c.417G>A, XM_011509678.2:c.-125G>A, XM_011509678.1:c.-125G>A, XM_011509671.2:c.417G>A, XM_011509671.1:c.417G>A, XM_047423569.1:c.417G>A, XM_047423581.1:c.318G>A, XR_007061329.1:n.643G>A

                          13.

                          rs1480705906 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            1:161168534 (GRCh38)
                            1:161138324 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:161168533:C:G
                            Gene:
                            PPOX (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.161168534C>G, NC_000001.10:g.161138324C>G, NG_012877.2:g.7144C>G, NM_000309.5:c.574C>G, NM_000309.4:c.574C>G, NM_000309.3:c.574C>G, NM_001122764.3:c.574C>G, NM_001122764.2:c.574C>G, NM_001122764.1:c.574C>G, NM_001350130.2:c.88C>G, NM_001350130.1:c.88C>G, NM_001350129.2:c.166C>G, NM_001350129.1:c.166C>G, NM_001350128.2:c.475C>G, NM_001350128.1:c.475C>G, NM_001350131.2:c.88C>G, NM_001350131.1:c.88C>G, NM_001365399.1:c.574C>G, NM_001365398.1:c.574C>G, NM_001365400.1:c.166C>G, NM_001365401.1:c.88C>G, XM_005245291.5:c.574C>G, XM_005245291.4:c.574C>G, XM_005245291.3:c.574C>G, XM_005245291.2:c.574C>G, XM_005245291.1:c.574C>G, XM_006711404.5:c.589C>G, XM_006711404.4:c.703C>G, XM_006711404.3:c.703C>G, XM_006711404.2:c.589C>G, XM_006711404.1:c.589C>G, XM_005245295.4:c.166C>G, XM_005245295.3:c.166C>G, XM_005245295.2:c.166C>G, XM_005245295.1:c.166C>G, XM_011509672.4:c.475C>G, XM_011509672.3:c.589C>G, XM_011509672.2:c.589C>G, XM_011509672.1:c.589C>G, XM_011509665.3:c.703C>G, XM_011509665.2:c.703C>G, XM_011509665.1:c.703C>G, XM_011509663.3:c.703C>G, XM_011509663.2:c.703C>G, XM_011509663.1:c.703C>G, XM_011509667.3:c.589C>G, XM_011509667.2:c.589C>G, XM_011509667.1:c.589C>G, XM_011509670.3:c.589C>G, XM_011509670.2:c.589C>G, XM_011509670.1:c.589C>G, XM_011509668.3:c.589C>G, XM_011509668.2:c.589C>G, XM_011509668.1:c.589C>G, XM_011509673.3:c.439C>G, XM_011509673.2:c.439C>G, XM_011509673.1:c.439C>G, XM_011509674.3:c.703C>G, XM_011509674.2:c.703C>G, XM_011509674.1:c.703C>G, XM_017001566.3:c.166C>G, XM_017001566.2:c.166C>G, XM_017001566.1:c.166C>G, XM_011509664.2:c.688C>G, XM_011509664.1:c.688C>G, XM_011509678.2:c.166C>G, XM_011509678.1:c.166C>G, XM_011509671.2:c.688C>G, XM_011509671.1:c.688C>G, XM_024447864.2:c.325C>G, XM_024447864.1:c.439C>G, XM_047423569.1:c.688C>G, XM_047423581.1:c.589C>G, XM_047423592.1:c.166C>G, XR_007061329.1:n.914C>G, NP_000300.1:p.Gln192Glu, NP_001116236.1:p.Gln192Glu, NP_001337059.1:p.Gln30Glu, NP_001337058.1:p.Gln56Glu, NP_001337057.1:p.Gln159Glu, NP_001337060.1:p.Gln30Glu, NP_001352328.1:p.Gln192Glu, NP_001352327.1:p.Gln192Glu, NP_001352329.1:p.Gln56Glu, NP_001352330.1:p.Gln30Glu, XP_005245348.2:p.Gln192Glu, XP_006711467.3:p.Gln197Glu, XP_005245352.2:p.Gln56Glu, XP_011507974.2:p.Gln159Glu, XP_011507967.1:p.Gln235Glu, XP_011507965.1:p.Gln235Glu, XP_011507969.1:p.Gln197Glu, XP_011507972.1:p.Gln197Glu, XP_011507970.1:p.Gln197Glu, XP_011507975.1:p.Gln147Glu, XP_011507976.1:p.Gln235Glu, XP_016857055.1:p.Gln56Glu, XP_011507966.1:p.Gln230Glu, XP_011507980.1:p.Gln56Glu, XP_011507973.1:p.Gln230Glu, XP_024303632.2:p.Gln109Glu, XP_047279525.1:p.Gln230Glu, XP_047279537.1:p.Gln197Glu, XP_047279548.1:p.Gln56Glu

                            14.

                            rs1479516823 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:161170738 (GRCh38)
                              1:161140528 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:161170737:T:C
                              Gene:
                              PPOX (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.161170738T>C, NC_000001.10:g.161140528T>C, NG_012877.2:g.9348T>C, NM_000309.5:c.1217T>C, NM_000309.4:c.1217T>C, NM_000309.3:c.1217T>C, NM_001122764.3:c.1217T>C, NM_001122764.2:c.1217T>C, NM_001122764.1:c.1217T>C, NM_001350130.2:c.731T>C, NM_001350130.1:c.731T>C, NM_001350129.2:c.809T>C, NM_001350129.1:c.809T>C, NM_001350128.2:c.1118T>C, NM_001350128.1:c.1118T>C, NM_001350131.2:c.731T>C, NM_001350131.1:c.731T>C, NM_001365399.1:c.1106T>C, NM_001365398.1:c.1217T>C, NM_001365400.1:c.809T>C, NM_001365401.1:c.731T>C, NG_011480.1:g.11787A>G, XM_005245291.5:c.1217T>C, XM_005245291.4:c.1217T>C, XM_005245291.3:c.1217T>C, XM_005245291.2:c.1217T>C, XM_005245291.1:c.1217T>C, XM_006711404.5:c.1232T>C, XM_006711404.4:c.1346T>C, XM_006711404.3:c.1346T>C, XM_006711404.2:c.1232T>C, XM_006711404.1:c.1232T>C, XM_005245295.4:c.809T>C, XM_005245295.3:c.809T>C, XM_005245295.2:c.809T>C, XM_005245295.1:c.809T>C, XM_011509672.4:c.1118T>C, XM_011509672.3:c.1232T>C, XM_011509672.2:c.1232T>C, XM_011509672.1:c.1232T>C, XM_011509665.3:c.1346T>C, XM_011509665.2:c.1346T>C, XM_011509665.1:c.1346T>C, XM_011509663.3:c.1346T>C, XM_011509663.2:c.1346T>C, XM_011509663.1:c.1346T>C, XM_011509667.3:c.1232T>C, XM_011509667.2:c.1232T>C, XM_011509667.1:c.1232T>C, XM_011509670.3:c.1232T>C, XM_011509670.2:c.1232T>C, XM_011509670.1:c.1232T>C, XM_011509668.3:c.1232T>C, XM_011509668.2:c.1232T>C, XM_011509668.1:c.1232T>C, XM_011509673.3:c.1082T>C, XM_011509673.2:c.1082T>C, XM_011509673.1:c.1082T>C, XM_011509674.3:c.1055T>C, XM_011509674.2:c.1055T>C, XM_011509674.1:c.1055T>C, XM_017001566.3:c.809T>C, XM_017001566.2:c.809T>C, XM_017001566.1:c.809T>C, XM_011509664.2:c.1331T>C, XM_011509664.1:c.1331T>C, XM_011509678.2:c.809T>C, XM_011509678.1:c.809T>C, XM_011509671.2:c.1331T>C, XM_011509671.1:c.1331T>C, XM_024447864.2:c.968T>C, XM_024447864.1:c.1082T>C, XM_047423569.1:c.1331T>C, XM_047423581.1:c.1232T>C, XM_047423592.1:c.809T>C, XM_047423604.1:c.515T>C, NP_000300.1:p.Met406Thr, NP_001116236.1:p.Met406Thr, NP_001337059.1:p.Met244Thr, NP_001337058.1:p.Met270Thr, NP_001337057.1:p.Met373Thr, NP_001337060.1:p.Met244Thr, NP_001352328.1:p.Met369Thr, NP_001352327.1:p.Met406Thr, NP_001352329.1:p.Met270Thr, NP_001352330.1:p.Met244Thr, XP_005245348.2:p.Met406Thr, XP_006711467.3:p.Met411Thr, XP_005245352.2:p.Met270Thr, XP_011507974.2:p.Met373Thr, XP_011507967.1:p.Met449Thr, XP_011507965.1:p.Met449Thr, XP_011507969.1:p.Met411Thr, XP_011507972.1:p.Met411Thr, XP_011507970.1:p.Met411Thr, XP_011507975.1:p.Met361Thr, XP_011507976.1:p.Met352Thr, XP_016857055.1:p.Met270Thr, XP_011507966.1:p.Met444Thr, XP_011507980.1:p.Met270Thr, XP_011507973.1:p.Met444Thr, XP_024303632.2:p.Met323Thr, XP_047279525.1:p.Met444Thr, XP_047279537.1:p.Met411Thr, XP_047279548.1:p.Met270Thr, XP_047279560.1:p.Met172Thr

                              15.

                              rs1476950681 has merged into rs1454394990 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TCTCGCGTCATGGGGCGGGG>-,TCTCGCGTCATGGGGCGGGGTCTCGCGTCATGGGGCGGGG [Show Flanks]
                                Chromosome:
                                1:161177514 (GRCh38)
                                1:161147304 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:161177504:GGGGCGGGGTCTCGCGTCATGGGGCGGGG:GGGGCGGGG,NC_000001.11:161177504:GGGGCGGGGTCTCGCGTCATGGGGCGGGG:GGGGCGGGGTCTCGCGTCATGGGGCGGGGTCTCGCGTCATGGGGCGGGG
                                Gene:
                                PPOX (Varview), B4GALT3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,5_prime_UTR_variant,frameshift_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGGGCGGGG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                GGGGCGGGGTCTCGCGTCAT=0.000071/1 (TOMMO)
                                HGVS:
                                NC_000001.11:g.161177514_161177533del, NC_000001.11:g.161177514_161177533dup, NC_000001.10:g.161147304_161147323del, NC_000001.10:g.161147304_161147323dup, NG_012877.2:g.16124_16143del, NG_012877.2:g.16124_16143dup, NG_011480.1:g.5001_5020del, NG_011480.1:g.5001_5020dup, NM_001199873.1:c.-283_-264del, NM_001199873.1:c.-283_-264dup, NM_001199874.1:c.-212_-193del, NM_001199874.1:c.-212_-193dup, XM_005245291.5:c.1526_1545del, XM_005245291.5:c.1526_1545dup, XM_005245291.4:c.1526_1545del, XM_005245291.4:c.1526_1545dup, XM_005245291.3:c.1526_1545del, XM_005245291.3:c.1526_1545dup, XM_005245295.4:c.1118_1137del, XM_005245295.4:c.1118_1137dup, XM_005245295.3:c.1118_1137del, XM_005245295.3:c.1118_1137dup, XM_011509665.3:c.*432_*451del, XM_011509665.3:c.*432_*451dup, XM_011509665.2:c.*432_*451del, XM_011509665.2:c.*432_*451dup, XM_005245566.3:c.-457_-438del, XM_005245566.3:c.-457_-438dup, XM_017002714.3:c.-283_-264del, XM_017002714.3:c.-283_-264dup, XM_017002714.2:c.-283_-264del, XM_017002714.2:c.-283_-264dup, XM_017002714.1:c.*4294966080_-283insCCCCGCCCC, XM_017002714.1:c.-283_-273del, XM_017002714.1:c.*4294966080_-283insCCCCGCCCCATGACGCGAGACCCCGCCCC, XM_011510093.3:c.-262_-243del, XM_011510093.3:c.-262_-243dup, XM_011510093.2:c.-244_-242C[4]GCCCCATGACGCGAGACCCCGCCCCC[1], XM_011510093.2:c.-244_-242C[4]GCCCCC[1], XM_011510093.2:c.-244_-242CCCCGCCCCATGACGCGAGA[2]C[4]GCCCCC[1], XM_011510093.1:c.*4294966101_-262insCCCCGCCCC, XM_011510093.1:c.-262_-252del, XM_011510093.1:c.*4294966101_-262insCCCCGCCCCATGACGCGAGACCCCGCCCC, XM_011509663.3:c.1655_1674del, XM_011509663.3:c.1655_1674dup, XM_011509663.2:c.1655_1674del, XM_011509663.2:c.1655_1674dup, XM_011509663.1:c.1655_1674del, XM_011509663.1:c.1655_1674dup, XM_011509667.3:c.1541_1560del, XM_011509667.3:c.1541_1560dup, XM_011509667.2:c.1541_1560del, XM_011509667.2:c.1541_1560dup, XM_011509667.1:c.1541_1560del, XM_011509667.1:c.1541_1560dup, XM_011509670.3:c.1541_1560del, XM_011509670.3:c.1541_1560dup, XM_011509670.2:c.1541_1560del, XM_011509670.2:c.1541_1560dup, XM_011509670.1:c.1541_1560del, XM_011509670.1:c.1541_1560dup, XM_011509668.3:c.1541_1560del, XM_011509668.3:c.1541_1560dup, XM_011509668.2:c.1541_1560del, XM_011509668.2:c.1541_1560dup, XM_011509668.1:c.1541_1560del, XM_011509668.1:c.1541_1560dup, XM_011509673.3:c.1391_1410del, XM_011509673.3:c.1391_1410dup, XM_011509673.2:c.1391_1410del, XM_011509673.2:c.1391_1410dup, XM_011509673.1:c.1391_1410del, XM_011509673.1:c.1391_1410dup, XM_011509674.3:c.1364_1383del, XM_011509674.3:c.1364_1383dup, XM_011509674.2:c.1364_1383del, XM_011509674.2:c.1364_1383dup, XM_011509674.1:c.1364_1383del, XM_011509674.1:c.1364_1383dup, XM_024450540.2:c.-478_-459del, XM_024450540.2:c.-478_-459dup, XM_011509664.2:c.1640_1659del, XM_011509664.2:c.1640_1659dup, XM_011509664.1:c.1640_1659del, XM_011509664.1:c.1640_1659dup, XM_011509678.2:c.1118_1137del, XM_011509678.2:c.1118_1137dup, XM_011509678.1:c.1118_1137del, XM_011509678.1:c.1118_1137dup, XM_047423569.1:c.*432_*451del, XM_047423569.1:c.*432_*451dup, XM_047433402.1:c.-478_-459del, XM_047433402.1:c.-478_-459dup, XM_047433401.1:c.-457_-438del, XM_047433401.1:c.-457_-438dup, XM_047423581.1:c.1541_1560del, XM_047423581.1:c.1541_1560dup, XM_047423592.1:c.1118_1137del, XM_047423592.1:c.1118_1137dup, XM_047423604.1:c.824_843del, XM_047423604.1:c.824_843dup, XP_005245348.2:p.Val509fs, XP_005245348.2:p.Pro516fs, XP_005245352.2:p.Val373fs, XP_005245352.2:p.Pro380fs, XP_011507965.1:p.Val552fs, XP_011507965.1:p.Pro559fs, XP_011507969.1:p.Val514fs, XP_011507969.1:p.Pro521fs, XP_011507972.1:p.Val514fs, XP_011507972.1:p.Pro521fs, XP_011507970.1:p.Val514fs, XP_011507970.1:p.Pro521fs, XP_011507975.1:p.Val464fs, XP_011507975.1:p.Pro471fs, XP_011507976.1:p.Val455fs, XP_011507976.1:p.Pro462fs, XP_011507966.1:p.Val547fs, XP_011507966.1:p.Pro554fs, XP_011507980.1:p.Val373fs, XP_011507980.1:p.Pro380fs, XP_047279537.1:p.Val514fs, XP_047279537.1:p.Pro521fs, XP_047279548.1:p.Val373fs, XP_047279548.1:p.Pro380fs, XP_047279560.1:p.Val275fs, XP_047279560.1:p.Pro282fs

                                16.

                                rs1474232062 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:161167197 (GRCh38)
                                  1:161136987 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:161167196:G:A
                                  Gene:
                                  PPOX (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.161167197G>A, NC_000001.10:g.161136987G>A, NG_012877.2:g.5807G>A, NM_000309.5:c.185G>A, NM_000309.4:c.185G>A, NM_000309.3:c.185G>A, NM_001122764.3:c.185G>A, NM_001122764.2:c.185G>A, NM_001122764.1:c.185G>A, NM_001350130.2:c.-334G>A, NM_001350130.1:c.-334G>A, NM_001350129.2:c.-243G>A, NM_001350129.1:c.-243G>A, NM_001350128.2:c.185G>A, NM_001350128.1:c.185G>A, NM_001350131.2:c.-220G>A, NM_001350131.1:c.-220G>A, NM_001365399.1:c.185G>A, NM_001365398.1:c.185G>A, NM_001365400.1:c.-127G>A, NM_001365401.1:c.-186G>A, XM_005245291.5:c.185G>A, XM_005245291.4:c.185G>A, XM_005245291.3:c.185G>A, XM_005245291.2:c.185G>A, XM_005245291.1:c.185G>A, XM_006711404.5:c.185G>A, XM_006711404.4:c.299G>A, XM_006711404.3:c.299G>A, XM_006711404.2:c.185G>A, XM_006711404.1:c.185G>A, XM_005245295.4:c.-127G>A, XM_005245295.3:c.-127G>A, XM_005245295.2:c.-127G>A, XM_005245295.1:c.-127G>A, XM_011509672.4:c.185G>A, XM_011509672.3:c.299G>A, XM_011509672.2:c.299G>A, XM_011509672.1:c.299G>A, XM_011509665.3:c.299G>A, XM_011509665.2:c.299G>A, XM_011509665.1:c.299G>A, XM_011509663.3:c.299G>A, XM_011509663.2:c.299G>A, XM_011509663.1:c.299G>A, XM_011509667.3:c.185G>A, XM_011509667.2:c.185G>A, XM_011509667.1:c.185G>A, XM_011509670.3:c.299G>A, XM_011509670.2:c.299G>A, XM_011509670.1:c.299G>A, XM_011509668.3:c.185G>A, XM_011509668.2:c.185G>A, XM_011509668.1:c.185G>A, XM_011509673.3:c.299G>A, XM_011509673.2:c.299G>A, XM_011509673.1:c.299G>A, XM_011509674.3:c.299G>A, XM_011509674.2:c.299G>A, XM_011509674.1:c.299G>A, XM_017001566.3:c.-275G>A, XM_017001566.2:c.-275G>A, XM_017001566.1:c.-275G>A, XM_011509664.2:c.299G>A, XM_011509664.1:c.299G>A, XM_011509678.2:c.-275G>A, XM_011509678.1:c.-275G>A, XM_011509671.2:c.299G>A, XM_011509671.1:c.299G>A, XM_024447864.2:c.185G>A, XM_024447864.1:c.299G>A, XM_047423569.1:c.299G>A, XM_047423581.1:c.185G>A, XM_047423604.1:c.-124G>A, XR_007061329.1:n.510G>A, NP_000300.1:p.Arg62Lys, NP_001116236.1:p.Arg62Lys, NP_001337057.1:p.Arg62Lys, NP_001352328.1:p.Arg62Lys, NP_001352327.1:p.Arg62Lys, XP_005245348.2:p.Arg62Lys, XP_006711467.3:p.Arg62Lys, XP_011507974.2:p.Arg62Lys, XP_011507967.1:p.Arg100Lys, XP_011507965.1:p.Arg100Lys, XP_011507969.1:p.Arg62Lys, XP_011507972.1:p.Arg100Lys, XP_011507970.1:p.Arg62Lys, XP_011507975.1:p.Arg100Lys, XP_011507976.1:p.Arg100Lys, XP_011507966.1:p.Arg100Lys, XP_011507973.1:p.Arg100Lys, XP_024303632.2:p.Arg62Lys, XP_047279525.1:p.Arg100Lys, XP_047279537.1:p.Arg62Lys

                                  17.

                                  rs1471617591 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:161170725 (GRCh38)
                                    1:161140515 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:161170724:G:A
                                    Gene:
                                    PPOX (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.161170725G>A, NC_000001.10:g.161140515G>A, NG_012877.2:g.9335G>A, NM_000309.5:c.1204G>A, NM_000309.4:c.1204G>A, NM_000309.3:c.1204G>A, NM_001122764.3:c.1204G>A, NM_001122764.2:c.1204G>A, NM_001122764.1:c.1204G>A, NM_001350130.2:c.718G>A, NM_001350130.1:c.718G>A, NM_001350129.2:c.796G>A, NM_001350129.1:c.796G>A, NM_001350128.2:c.1105G>A, NM_001350128.1:c.1105G>A, NM_001350131.2:c.718G>A, NM_001350131.1:c.718G>A, NM_001365399.1:c.1093G>A, NM_001365398.1:c.1204G>A, NM_001365400.1:c.796G>A, NM_001365401.1:c.718G>A, NG_011480.1:g.11800C>T, XM_005245291.5:c.1204G>A, XM_005245291.4:c.1204G>A, XM_005245291.3:c.1204G>A, XM_005245291.2:c.1204G>A, XM_005245291.1:c.1204G>A, XM_006711404.5:c.1219G>A, XM_006711404.4:c.1333G>A, XM_006711404.3:c.1333G>A, XM_006711404.2:c.1219G>A, XM_006711404.1:c.1219G>A, XM_005245295.4:c.796G>A, XM_005245295.3:c.796G>A, XM_005245295.2:c.796G>A, XM_005245295.1:c.796G>A, XM_011509672.4:c.1105G>A, XM_011509672.3:c.1219G>A, XM_011509672.2:c.1219G>A, XM_011509672.1:c.1219G>A, XM_011509665.3:c.1333G>A, XM_011509665.2:c.1333G>A, XM_011509665.1:c.1333G>A, XM_011509663.3:c.1333G>A, XM_011509663.2:c.1333G>A, XM_011509663.1:c.1333G>A, XM_011509667.3:c.1219G>A, XM_011509667.2:c.1219G>A, XM_011509667.1:c.1219G>A, XM_011509670.3:c.1219G>A, XM_011509670.2:c.1219G>A, XM_011509670.1:c.1219G>A, XM_011509668.3:c.1219G>A, XM_011509668.2:c.1219G>A, XM_011509668.1:c.1219G>A, XM_011509673.3:c.1069G>A, XM_011509673.2:c.1069G>A, XM_011509673.1:c.1069G>A, XM_011509674.3:c.1042G>A, XM_011509674.2:c.1042G>A, XM_011509674.1:c.1042G>A, XM_017001566.3:c.796G>A, XM_017001566.2:c.796G>A, XM_017001566.1:c.796G>A, XM_011509664.2:c.1318G>A, XM_011509664.1:c.1318G>A, XM_011509678.2:c.796G>A, XM_011509678.1:c.796G>A, XM_011509671.2:c.1318G>A, XM_011509671.1:c.1318G>A, XM_024447864.2:c.955G>A, XM_024447864.1:c.1069G>A, XM_047423569.1:c.1318G>A, XM_047423581.1:c.1219G>A, XM_047423592.1:c.796G>A, XM_047423604.1:c.502G>A, XR_007061329.1:n.1425G>A, NP_000300.1:p.Gly402Arg, NP_001116236.1:p.Gly402Arg, NP_001337059.1:p.Gly240Arg, NP_001337058.1:p.Gly266Arg, NP_001337057.1:p.Gly369Arg, NP_001337060.1:p.Gly240Arg, NP_001352328.1:p.Gly365Arg, NP_001352327.1:p.Gly402Arg, NP_001352329.1:p.Gly266Arg, NP_001352330.1:p.Gly240Arg, XP_005245348.2:p.Gly402Arg, XP_006711467.3:p.Gly407Arg, XP_005245352.2:p.Gly266Arg, XP_011507974.2:p.Gly369Arg, XP_011507967.1:p.Gly445Arg, XP_011507965.1:p.Gly445Arg, XP_011507969.1:p.Gly407Arg, XP_011507972.1:p.Gly407Arg, XP_011507970.1:p.Gly407Arg, XP_011507975.1:p.Gly357Arg, XP_011507976.1:p.Gly348Arg, XP_016857055.1:p.Gly266Arg, XP_011507966.1:p.Gly440Arg, XP_011507980.1:p.Gly266Arg, XP_011507973.1:p.Gly440Arg, XP_024303632.2:p.Gly319Arg, XP_047279525.1:p.Gly440Arg, XP_047279537.1:p.Gly407Arg, XP_047279548.1:p.Gly266Arg, XP_047279560.1:p.Gly168Arg

                                    18.

                                    rs1469972274 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:161169116 (GRCh38)
                                      1:161138906 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:161169115:G:A
                                      Gene:
                                      PPOX (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      NC_000001.11:g.161169116G>A, NC_000001.10:g.161138906G>A, NG_012877.2:g.7726G>A, NM_000309.5:c.740G>A, NM_000309.4:c.740G>A, NM_000309.3:c.740G>A, NM_001122764.3:c.740G>A, NM_001122764.2:c.740G>A, NM_001122764.1:c.740G>A, NM_001350130.2:c.254G>A, NM_001350130.1:c.254G>A, NM_001350129.2:c.332G>A, NM_001350129.1:c.332G>A, NM_001350128.2:c.641G>A, NM_001350128.1:c.641G>A, NM_001350131.2:c.254G>A, NM_001350131.1:c.254G>A, NM_001365399.1:c.740G>A, NM_001365398.1:c.740G>A, NM_001365400.1:c.332G>A, NM_001365401.1:c.254G>A, XM_005245291.5:c.740G>A, XM_005245291.4:c.740G>A, XM_005245291.3:c.740G>A, XM_005245291.2:c.740G>A, XM_005245291.1:c.740G>A, XM_006711404.5:c.755G>A, XM_006711404.4:c.869G>A, XM_006711404.3:c.869G>A, XM_006711404.2:c.755G>A, XM_006711404.1:c.755G>A, XM_005245295.4:c.332G>A, XM_005245295.3:c.332G>A, XM_005245295.2:c.332G>A, XM_005245295.1:c.332G>A, XM_011509672.4:c.641G>A, XM_011509672.3:c.755G>A, XM_011509672.2:c.755G>A, XM_011509672.1:c.755G>A, XM_011509665.3:c.869G>A, XM_011509665.2:c.869G>A, XM_011509665.1:c.869G>A, XM_011509663.3:c.869G>A, XM_011509663.2:c.869G>A, XM_011509663.1:c.869G>A, XM_011509667.3:c.755G>A, XM_011509667.2:c.755G>A, XM_011509667.1:c.755G>A, XM_011509670.3:c.755G>A, XM_011509670.2:c.755G>A, XM_011509670.1:c.755G>A, XM_011509668.3:c.755G>A, XM_011509668.2:c.755G>A, XM_011509668.1:c.755G>A, XM_011509673.3:c.605G>A, XM_011509673.2:c.605G>A, XM_011509673.1:c.605G>A, XM_011509674.3:c.869G>A, XM_011509674.2:c.869G>A, XM_011509674.1:c.869G>A, XM_017001566.3:c.332G>A, XM_017001566.2:c.332G>A, XM_017001566.1:c.332G>A, XM_011509664.2:c.854G>A, XM_011509664.1:c.854G>A, XM_011509678.2:c.332G>A, XM_011509678.1:c.332G>A, XM_011509671.2:c.854G>A, XM_011509671.1:c.854G>A, XM_024447864.2:c.491G>A, XM_024447864.1:c.605G>A, XM_047423569.1:c.854G>A, XM_047423581.1:c.755G>A, XM_047423592.1:c.332G>A, XM_047423604.1:c.38G>A, XR_007061329.1:n.1080G>A, NP_000300.1:p.Arg247Lys, NP_001116236.1:p.Arg247Lys, NP_001337059.1:p.Arg85Lys, NP_001337058.1:p.Arg111Lys, NP_001337057.1:p.Arg214Lys, NP_001337060.1:p.Arg85Lys, NP_001352328.1:p.Arg247Lys, NP_001352327.1:p.Arg247Lys, NP_001352329.1:p.Arg111Lys, NP_001352330.1:p.Arg85Lys, XP_005245348.2:p.Arg247Lys, XP_006711467.3:p.Arg252Lys, XP_005245352.2:p.Arg111Lys, XP_011507974.2:p.Arg214Lys, XP_011507967.1:p.Arg290Lys, XP_011507965.1:p.Arg290Lys, XP_011507969.1:p.Arg252Lys, XP_011507972.1:p.Arg252Lys, XP_011507970.1:p.Arg252Lys, XP_011507975.1:p.Arg202Lys, XP_011507976.1:p.Arg290Lys, XP_016857055.1:p.Arg111Lys, XP_011507966.1:p.Arg285Lys, XP_011507980.1:p.Arg111Lys, XP_011507973.1:p.Arg285Lys, XP_024303632.2:p.Arg164Lys, XP_047279525.1:p.Arg285Lys, XP_047279537.1:p.Arg252Lys, XP_047279548.1:p.Arg111Lys, XP_047279560.1:p.Arg13Lys

                                      19.

                                      rs1469636258 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:161169955 (GRCh38)
                                        1:161139745 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:161169954:G:C
                                        Gene:
                                        PPOX (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.161169955G>C, NC_000001.10:g.161139745G>C, NG_012877.2:g.8565G>C, NM_000309.5:c.918G>C, NM_000309.4:c.918G>C, NM_000309.3:c.918G>C, NM_001122764.3:c.918G>C, NM_001122764.2:c.918G>C, NM_001122764.1:c.918G>C, NM_001350130.2:c.432G>C, NM_001350130.1:c.432G>C, NM_001350129.2:c.510G>C, NM_001350129.1:c.510G>C, NM_001350128.2:c.819G>C, NM_001350128.1:c.819G>C, NM_001350131.2:c.432G>C, NM_001350131.1:c.432G>C, NM_001365399.1:c.918G>C, NM_001365398.1:c.918G>C, NM_001365400.1:c.510G>C, NM_001365401.1:c.432G>C, NG_011480.1:g.12570C>G, XM_005245291.5:c.918G>C, XM_005245291.4:c.918G>C, XM_005245291.3:c.918G>C, XM_005245291.2:c.918G>C, XM_005245291.1:c.918G>C, XM_006711404.5:c.933G>C, XM_006711404.4:c.1047G>C, XM_006711404.3:c.1047G>C, XM_006711404.2:c.933G>C, XM_006711404.1:c.933G>C, XM_005245295.4:c.510G>C, XM_005245295.3:c.510G>C, XM_005245295.2:c.510G>C, XM_005245295.1:c.510G>C, XM_011509672.4:c.819G>C, XM_011509672.3:c.933G>C, XM_011509672.2:c.933G>C, XM_011509672.1:c.933G>C, XM_011509665.3:c.1047G>C, XM_011509665.2:c.1047G>C, XM_011509665.1:c.1047G>C, XM_011509663.3:c.1047G>C, XM_011509663.2:c.1047G>C, XM_011509663.1:c.1047G>C, XM_011509667.3:c.933G>C, XM_011509667.2:c.933G>C, XM_011509667.1:c.933G>C, XM_011509670.3:c.933G>C, XM_011509670.2:c.933G>C, XM_011509670.1:c.933G>C, XM_011509668.3:c.933G>C, XM_011509668.2:c.933G>C, XM_011509668.1:c.933G>C, XM_011509673.3:c.783G>C, XM_011509673.2:c.783G>C, XM_011509673.1:c.783G>C, XM_017001566.3:c.510G>C, XM_017001566.2:c.510G>C, XM_017001566.1:c.510G>C, XM_011509664.2:c.1032G>C, XM_011509664.1:c.1032G>C, XM_011509678.2:c.510G>C, XM_011509678.1:c.510G>C, XM_011509671.2:c.1032G>C, XM_011509671.1:c.1032G>C, XM_024447864.2:c.669G>C, XM_024447864.1:c.783G>C, XM_047423569.1:c.1032G>C, XM_047423581.1:c.933G>C, XM_047423592.1:c.510G>C, XM_047423604.1:c.216G>C

                                        20.

                                        rs1468078763 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:161176891 (GRCh38)
                                          1:161146681 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:161176890:G:A
                                          Gene:
                                          PPOX (Varview), B4GALT3 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                          HGVS:
                                          NC_000001.11:g.161176891G>A, NC_000001.10:g.161146681G>A, NG_012877.2:g.15501G>A, NG_011480.1:g.5634C>T, XM_005245291.5:c.1291G>A, XM_005245291.4:c.1291G>A, XM_005245291.3:c.1291G>A, XM_005245291.2:c.1291G>A, XM_005245291.1:c.1291G>A, XM_005245295.4:c.883G>A, XM_005245295.3:c.883G>A, XM_005245295.2:c.883G>A, XM_005245295.1:c.883G>A, XM_011509665.3:c.1420G>A, XM_011509665.2:c.1420G>A, XM_011509665.1:c.1420G>A, XM_011509663.3:c.1420G>A, XM_011509663.2:c.1420G>A, XM_011509663.1:c.1420G>A, XM_011509667.3:c.1306G>A, XM_011509667.2:c.1306G>A, XM_011509667.1:c.1306G>A, XM_011509670.3:c.1306G>A, XM_011509670.2:c.1306G>A, XM_011509670.1:c.1306G>A, XM_011509668.3:c.1306G>A, XM_011509668.2:c.1306G>A, XM_011509668.1:c.1306G>A, XM_011509673.3:c.1156G>A, XM_011509673.2:c.1156G>A, XM_011509673.1:c.1156G>A, XM_011509674.3:c.1129G>A, XM_011509674.2:c.1129G>A, XM_011509674.1:c.1129G>A, XM_011509664.2:c.1405G>A, XM_011509664.1:c.1405G>A, XM_011509678.2:c.883G>A, XM_011509678.1:c.883G>A, XM_047423569.1:c.1405G>A, XM_047423581.1:c.1306G>A, XM_047423592.1:c.883G>A, XM_047423604.1:c.589G>A, XP_005245348.2:p.Val431Met, XP_005245352.2:p.Val295Met, XP_011507967.1:p.Val474Met, XP_011507965.1:p.Val474Met, XP_011507969.1:p.Val436Met, XP_011507972.1:p.Val436Met, XP_011507970.1:p.Val436Met, XP_011507975.1:p.Val386Met, XP_011507976.1:p.Val377Met, XP_011507966.1:p.Val469Met, XP_011507980.1:p.Val295Met, XP_047279525.1:p.Val469Met, XP_047279537.1:p.Val436Met, XP_047279548.1:p.Val295Met, XP_047279560.1:p.Val197Met

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