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Items: 1 to 20 of 654

1.

rs1490211932 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    13:77613955 (GRCh38)
    13:78188090 (GRCh37)
    Canonical SPDI:
    NC_000013.11:77613954:G:A
    Gene:
    SCEL (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000013.11:g.77613955G>A, NC_000013.10:g.78188090G>A, NM_003843.4:c.1391G>A, NM_003843.3:c.1391G>A, NM_144777.3:c.1451G>A, NM_144777.2:c.1451G>A, XM_011535285.3:c.1412G>A, XM_011535285.2:c.1412G>A, XM_011535285.1:c.1412G>A, XM_011535283.2:c.1448G>A, XM_011535283.1:c.1448G>A, XM_011535282.2:c.1448G>A, XM_011535282.1:c.1448G>A, XM_011535281.2:c.1448G>A, XM_011535281.1:c.1448G>A, XM_011535284.2:c.1445G>A, XM_011535284.1:c.1445G>A, XM_011535286.2:c.1391G>A, XM_011535286.1:c.1391G>A, XM_006719882.2:c.1391G>A, XM_006719882.1:c.1391G>A, XM_011535287.2:c.1388G>A, XM_011535287.1:c.1388G>A, XM_006719884.2:c.1385G>A, XM_006719884.1:c.1385G>A, XM_005266578.2:c.1382G>A, XM_005266578.1:c.1382G>A, XM_011535288.2:c.1343G>A, XM_011535288.1:c.1343G>A, XM_006719885.2:c.1331G>A, XM_006719885.1:c.1331G>A, XM_011535289.2:c.1328G>A, XM_011535289.1:c.1328G>A, NM_001160706.2:c.1325G>A, NM_001160706.1:c.1325G>A, XM_011535290.2:c.1451G>A, XM_011535290.1:c.1451G>A, XM_017020805.2:c.1448G>A, XM_017020805.1:c.1448G>A, XM_047430710.1:c.1388G>A, XM_047430709.1:c.1388G>A, XM_047430711.1:c.1382G>A, XM_047430712.1:c.1331G>A, XM_047430713.1:c.1322G>A, NP_003834.3:p.Gly464Glu, NP_659001.2:p.Gly484Glu, XP_011533587.1:p.Gly471Glu, XP_011533585.1:p.Gly483Glu, XP_011533584.1:p.Gly483Glu, XP_011533583.1:p.Gly483Glu, XP_011533586.1:p.Gly482Glu, XP_011533588.1:p.Gly464Glu, XP_006719945.1:p.Gly464Glu, XP_011533589.1:p.Gly463Glu, XP_006719947.1:p.Gly462Glu, XP_005266635.1:p.Gly461Glu, XP_011533590.1:p.Gly448Glu, XP_006719948.1:p.Gly444Glu, XP_011533591.1:p.Gly443Glu, NP_001154178.1:p.Gly442Glu, XP_011533592.1:p.Gly484Glu, XP_016876294.1:p.Gly483Glu, XP_047286666.1:p.Gly463Glu, XP_047286665.1:p.Gly463Glu, XP_047286667.1:p.Gly461Glu, XP_047286668.1:p.Gly444Glu, XP_047286669.1:p.Gly441Glu

    2.

    rs1488579936 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      13:77617654 (GRCh38)
      13:78191789 (GRCh37)
      Canonical SPDI:
      NC_000013.11:77617653:C:G
      Gene:
      SCEL (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000013.11:g.77617654C>G, NC_000013.10:g.78191789C>G, NM_003843.4:c.1447C>G, NM_003843.3:c.1447C>G, NM_144777.3:c.1507C>G, NM_144777.2:c.1507C>G, XM_011535285.3:c.1468C>G, XM_011535285.2:c.1468C>G, XM_011535285.1:c.1468C>G, XM_011535283.2:c.1504C>G, XM_011535283.1:c.1504C>G, XM_011535282.2:c.1504C>G, XM_011535282.1:c.1504C>G, XM_011535281.2:c.1504C>G, XM_011535281.1:c.1504C>G, XM_011535284.2:c.1501C>G, XM_011535284.1:c.1501C>G, XM_011535286.2:c.1447C>G, XM_011535286.1:c.1447C>G, XM_006719882.2:c.1447C>G, XM_006719882.1:c.1447C>G, XM_011535287.2:c.1444C>G, XM_011535287.1:c.1444C>G, XM_006719884.2:c.1441C>G, XM_006719884.1:c.1441C>G, XM_005266578.2:c.1438C>G, XM_005266578.1:c.1438C>G, XM_011535288.2:c.1399C>G, XM_011535288.1:c.1399C>G, XM_006719885.2:c.1387C>G, XM_006719885.1:c.1387C>G, XM_011535289.2:c.1384C>G, XM_011535289.1:c.1384C>G, NM_001160706.2:c.1381C>G, NM_001160706.1:c.1381C>G, XM_047430710.1:c.1444C>G, XM_047430709.1:c.1444C>G, XM_047430711.1:c.1438C>G, XM_047430712.1:c.1387C>G, XM_047430713.1:c.1378C>G, NP_003834.3:p.Gln483Glu, NP_659001.2:p.Gln503Glu, XP_011533587.1:p.Gln490Glu, XP_011533585.1:p.Gln502Glu, XP_011533584.1:p.Gln502Glu, XP_011533583.1:p.Gln502Glu, XP_011533586.1:p.Gln501Glu, XP_011533588.1:p.Gln483Glu, XP_006719945.1:p.Gln483Glu, XP_011533589.1:p.Gln482Glu, XP_006719947.1:p.Gln481Glu, XP_005266635.1:p.Gln480Glu, XP_011533590.1:p.Gln467Glu, XP_006719948.1:p.Gln463Glu, XP_011533591.1:p.Gln462Glu, NP_001154178.1:p.Gln461Glu, XP_047286666.1:p.Gln482Glu, XP_047286665.1:p.Gln482Glu, XP_047286667.1:p.Gln480Glu, XP_047286668.1:p.Gln463Glu, XP_047286669.1:p.Gln460Glu

      3.

      rs1483428281 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        13:77599343 (GRCh38)
        13:78173478 (GRCh37)
        Canonical SPDI:
        NC_000013.11:77599342:A:G
        Gene:
        SCEL (Varview), SCEL-AS1 (Varview)
        Functional Consequence:
        intron_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000014/2 (GnomAD)
        HGVS:
        NC_000013.11:g.77599343A>G, NC_000013.10:g.78173478A>G, NM_003843.4:c.752A>G, NM_003843.3:c.752A>G, NM_144777.3:c.812A>G, NM_144777.2:c.812A>G, XM_011535285.3:c.773A>G, XM_011535285.2:c.773A>G, XM_011535285.1:c.773A>G, XM_011535283.2:c.812A>G, XM_011535283.1:c.812A>G, XM_011535282.2:c.812A>G, XM_011535282.1:c.812A>G, XM_011535281.2:c.812A>G, XM_011535281.1:c.812A>G, XM_011535284.2:c.812A>G, XM_011535284.1:c.812A>G, XM_011535286.2:c.812A>G, XM_011535286.1:c.812A>G, XM_011535287.2:c.812A>G, XM_011535287.1:c.812A>G, XM_006719884.2:c.746A>G, XM_006719884.1:c.746A>G, XM_005266578.2:c.743A>G, XM_005266578.1:c.743A>G, XM_011535288.2:c.704A>G, XM_011535288.1:c.704A>G, NM_001160706.2:c.746A>G, NM_001160706.1:c.746A>G, XM_011535290.2:c.812A>G, XM_011535290.1:c.812A>G, XM_017020805.2:c.812A>G, XM_017020805.1:c.812A>G, XM_011535291.2:c.812A>G, XM_011535291.1:c.812A>G, XM_047430710.1:c.812A>G, XM_047430709.1:c.752A>G, XM_047430711.1:c.746A>G, XM_047430712.1:c.752A>G, XM_047430713.1:c.743A>G, XM_047430714.1:c.812A>G, NP_003834.3:p.Asp251Gly, NP_659001.2:p.Asp271Gly, XP_011533587.1:p.Asp258Gly, XP_011533585.1:p.Asp271Gly, XP_011533584.1:p.Asp271Gly, XP_011533583.1:p.Asp271Gly, XP_011533586.1:p.Asp271Gly, XP_011533588.1:p.Asp271Gly, XP_011533589.1:p.Asp271Gly, XP_006719947.1:p.Asp249Gly, XP_005266635.1:p.Asp248Gly, XP_011533590.1:p.Asp235Gly, NP_001154178.1:p.Asp249Gly, XP_011533592.1:p.Asp271Gly, XP_016876294.1:p.Asp271Gly, XP_011533593.1:p.Asp271Gly, XP_047286666.1:p.Asp271Gly, XP_047286665.1:p.Asp251Gly, XP_047286667.1:p.Asp249Gly, XP_047286668.1:p.Asp251Gly, XP_047286669.1:p.Asp248Gly, XP_047286670.1:p.Asp271Gly

        4.

        rs1480130293 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          13:77602712 (GRCh38)
          13:78176847 (GRCh37)
          Canonical SPDI:
          NC_000013.11:77602711:AG:
          Gene:
          SCEL (Varview), SCEL-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,stop_gained,frameshift_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000013.11:g.77602712_77602713del, NC_000013.10:g.78176847_78176848del, NM_003843.4:c.977_978del, NM_003843.3:c.977_978del, NM_144777.3:c.1037_1038del, NM_144777.2:c.1037_1038del, XM_011535285.3:c.998_999del, XM_011535285.2:c.998_999del, XM_011535285.1:c.998_999del, XM_011535283.2:c.1037_1038del, XM_011535283.1:c.1037_1038del, XM_011535282.2:c.1034_1035del, XM_011535282.1:c.1034_1035del, XM_011535281.2:c.1036_1037del, XM_011535281.1:c.1036_1037del, XM_011535284.2:c.1033_1034del, XM_011535284.1:c.1033_1034del, XM_011535286.2:c.1037_1038del, XM_011535286.1:c.1037_1038del, XM_006719882.2:c.977_978del, XM_006719882.1:c.977_978del, XM_011535287.2:c.1036_1037del, XM_011535287.1:c.1036_1037del, XM_006719884.2:c.971_972del, XM_006719884.1:c.971_972del, XM_005266578.2:c.968_969del, XM_005266578.1:c.968_969del, XM_011535288.2:c.929_930del, XM_011535288.1:c.929_930del, XM_006719885.2:c.917_918del, XM_006719885.1:c.917_918del, XM_011535289.2:c.914_915del, XM_011535289.1:c.914_915del, NM_001160706.2:c.971_972del, NM_001160706.1:c.971_972del, XM_011535290.2:c.1037_1038del, XM_011535290.1:c.1037_1038del, XM_017020805.2:c.1037_1038del, XM_017020805.1:c.1037_1038del, XM_011535291.2:c.1037_1038del, XM_011535291.1:c.1037_1038del, XM_047430710.1:c.1037_1038del, XM_047430709.1:c.977_978del, XM_047430711.1:c.968_969del, XM_047430712.1:c.977_978del, XM_047430713.1:c.968_969del, XM_047430714.1:c.1037_1038del, NP_003834.3:p.Arg326fs, NP_659001.2:p.Arg346fs, XP_011533587.1:p.Arg333fs, XP_011533585.1:p.Arg346fs, XP_011533584.1:p.Arg345fs, XP_011533583.1:p.Arg345_Ser346insTer, XP_011533586.1:p.Arg344_Ser345insTer, XP_011533588.1:p.Arg346fs, XP_006719945.1:p.Arg326fs, XP_011533589.1:p.Arg345_Ser346insTer, XP_006719947.1:p.Arg324fs, XP_005266635.1:p.Arg323fs, XP_011533590.1:p.Arg310fs, XP_006719948.1:p.Arg306fs, XP_011533591.1:p.Arg305fs, NP_001154178.1:p.Arg324fs, XP_011533592.1:p.Arg346fs, XP_016876294.1:p.Arg346fs, XP_011533593.1:p.Arg346fs, XP_047286666.1:p.Arg346fs, XP_047286665.1:p.Arg326fs, XP_047286667.1:p.Arg323fs, XP_047286668.1:p.Arg326fs, XP_047286669.1:p.Arg323fs, XP_047286670.1:p.Arg346fs

          5.

          rs1480093381 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            13:77642755 (GRCh38)
            13:78216890 (GRCh37)
            Canonical SPDI:
            NC_000013.11:77642754:T:C
            Gene:
            SCEL (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000013.11:g.77642755T>C, NC_000013.10:g.78216890T>C, NM_003843.4:c.1937T>C, NM_003843.3:c.1937T>C, NM_144777.3:c.1997T>C, NM_144777.2:c.1997T>C, XM_011535285.3:c.1958T>C, XM_011535285.2:c.1958T>C, XM_011535285.1:c.1958T>C, XM_011535283.2:c.1994T>C, XM_011535283.1:c.1994T>C, XM_011535282.2:c.1994T>C, XM_011535282.1:c.1994T>C, XM_011535281.2:c.1994T>C, XM_011535281.1:c.1994T>C, XM_011535284.2:c.1991T>C, XM_011535284.1:c.1991T>C, XM_011535286.2:c.1937T>C, XM_011535286.1:c.1937T>C, XM_006719882.2:c.1937T>C, XM_006719882.1:c.1937T>C, XM_011535287.2:c.1934T>C, XM_011535287.1:c.1934T>C, XM_006719884.2:c.1931T>C, XM_006719884.1:c.1931T>C, XM_005266578.2:c.1928T>C, XM_005266578.1:c.1928T>C, XM_011535288.2:c.1889T>C, XM_011535288.1:c.1889T>C, XM_006719885.2:c.1877T>C, XM_006719885.1:c.1877T>C, XM_011535289.2:c.1874T>C, XM_011535289.1:c.1874T>C, NM_001160706.2:c.1871T>C, NM_001160706.1:c.1871T>C, XM_011535290.2:c.1820T>C, XM_011535290.1:c.1820T>C, XM_017020805.2:c.1817T>C, XM_017020805.1:c.1817T>C, XM_011535291.2:c.1706T>C, XM_011535291.1:c.1706T>C, XM_047430710.1:c.1934T>C, XM_047430709.1:c.1934T>C, XM_047430711.1:c.1928T>C, XM_047430712.1:c.1877T>C, XM_047430713.1:c.1868T>C, XM_047430714.1:c.1646T>C, NP_003834.3:p.Ile646Thr, NP_659001.2:p.Ile666Thr, XP_011533587.1:p.Ile653Thr, XP_011533585.1:p.Ile665Thr, XP_011533584.1:p.Ile665Thr, XP_011533583.1:p.Ile665Thr, XP_011533586.1:p.Ile664Thr, XP_011533588.1:p.Ile646Thr, XP_006719945.1:p.Ile646Thr, XP_011533589.1:p.Ile645Thr, XP_006719947.1:p.Ile644Thr, XP_005266635.1:p.Ile643Thr, XP_011533590.1:p.Ile630Thr, XP_006719948.1:p.Ile626Thr, XP_011533591.1:p.Ile625Thr, NP_001154178.1:p.Ile624Thr, XP_011533592.1:p.Ile607Thr, XP_016876294.1:p.Ile606Thr, XP_011533593.1:p.Ile569Thr, XP_047286666.1:p.Ile645Thr, XP_047286665.1:p.Ile645Thr, XP_047286667.1:p.Ile643Thr, XP_047286668.1:p.Ile626Thr, XP_047286669.1:p.Ile623Thr, XP_047286670.1:p.Ile549Thr

            6.

            rs1478614308 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              13:77567742 (GRCh38)
              13:78141877 (GRCh37)
              Canonical SPDI:
              NC_000013.11:77567741:C:A,NC_000013.11:77567741:C:T
              Gene:
              SCEL (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000013.11:g.77567742C>A, NC_000013.11:g.77567742C>T, NC_000013.10:g.78141877C>A, NC_000013.10:g.78141877C>T, NM_003843.4:c.353C>A, NM_003843.4:c.353C>T, NM_003843.3:c.353C>A, NM_003843.3:c.353C>T, NM_144777.3:c.353C>A, NM_144777.3:c.353C>T, NM_144777.2:c.353C>A, NM_144777.2:c.353C>T, XM_011535285.3:c.353C>A, XM_011535285.3:c.353C>T, XM_011535285.2:c.353C>A, XM_011535285.2:c.353C>T, XM_011535285.1:c.353C>A, XM_011535285.1:c.353C>T, XM_011535283.2:c.353C>A, XM_011535283.2:c.353C>T, XM_011535283.1:c.353C>A, XM_011535283.1:c.353C>T, XM_011535282.2:c.353C>A, XM_011535282.2:c.353C>T, XM_011535282.1:c.353C>A, XM_011535282.1:c.353C>T, XM_011535281.2:c.353C>A, XM_011535281.2:c.353C>T, XM_011535281.1:c.353C>A, XM_011535281.1:c.353C>T, XM_011535284.2:c.353C>A, XM_011535284.2:c.353C>T, XM_011535284.1:c.353C>A, XM_011535284.1:c.353C>T, XM_011535286.2:c.353C>A, XM_011535286.2:c.353C>T, XM_011535286.1:c.353C>A, XM_011535286.1:c.353C>T, XM_006719882.2:c.353C>A, XM_006719882.2:c.353C>T, XM_006719882.1:c.353C>A, XM_006719882.1:c.353C>T, XM_011535287.2:c.353C>A, XM_011535287.2:c.353C>T, XM_011535287.1:c.353C>A, XM_011535287.1:c.353C>T, XM_006719884.2:c.353C>A, XM_006719884.2:c.353C>T, XM_006719884.1:c.353C>A, XM_006719884.1:c.353C>T, XM_006719885.2:c.353C>A, XM_006719885.2:c.353C>T, XM_006719885.1:c.353C>A, XM_006719885.1:c.353C>T, XM_011535289.2:c.353C>A, XM_011535289.2:c.353C>T, XM_011535289.1:c.353C>A, XM_011535289.1:c.353C>T, NM_001160706.2:c.353C>A, NM_001160706.2:c.353C>T, NM_001160706.1:c.353C>A, NM_001160706.1:c.353C>T, XM_011535290.2:c.353C>A, XM_011535290.2:c.353C>T, XM_011535290.1:c.353C>A, XM_011535290.1:c.353C>T, XM_017020805.2:c.353C>A, XM_017020805.2:c.353C>T, XM_017020805.1:c.353C>A, XM_017020805.1:c.353C>T, XM_011535291.2:c.353C>A, XM_011535291.2:c.353C>T, XM_011535291.1:c.353C>A, XM_011535291.1:c.353C>T, XM_047430710.1:c.353C>A, XM_047430710.1:c.353C>T, XM_047430709.1:c.353C>A, XM_047430709.1:c.353C>T, XM_047430711.1:c.353C>A, XM_047430711.1:c.353C>T, XM_047430712.1:c.353C>A, XM_047430712.1:c.353C>T, XM_047430714.1:c.353C>A, XM_047430714.1:c.353C>T, NP_003834.3:p.Thr118Asn, NP_003834.3:p.Thr118Ile, NP_659001.2:p.Thr118Asn, NP_659001.2:p.Thr118Ile, XP_011533587.1:p.Thr118Asn, XP_011533587.1:p.Thr118Ile, XP_011533585.1:p.Thr118Asn, XP_011533585.1:p.Thr118Ile, XP_011533584.1:p.Thr118Asn, XP_011533584.1:p.Thr118Ile, XP_011533583.1:p.Thr118Asn, XP_011533583.1:p.Thr118Ile, XP_011533586.1:p.Thr118Asn, XP_011533586.1:p.Thr118Ile, XP_011533588.1:p.Thr118Asn, XP_011533588.1:p.Thr118Ile, XP_006719945.1:p.Thr118Asn, XP_006719945.1:p.Thr118Ile, XP_011533589.1:p.Thr118Asn, XP_011533589.1:p.Thr118Ile, XP_006719947.1:p.Thr118Asn, XP_006719947.1:p.Thr118Ile, XP_006719948.1:p.Thr118Asn, XP_006719948.1:p.Thr118Ile, XP_011533591.1:p.Thr118Asn, XP_011533591.1:p.Thr118Ile, NP_001154178.1:p.Thr118Asn, NP_001154178.1:p.Thr118Ile, XP_011533592.1:p.Thr118Asn, XP_011533592.1:p.Thr118Ile, XP_016876294.1:p.Thr118Asn, XP_016876294.1:p.Thr118Ile, XP_011533593.1:p.Thr118Asn, XP_011533593.1:p.Thr118Ile, XP_047286666.1:p.Thr118Asn, XP_047286666.1:p.Thr118Ile, XP_047286665.1:p.Thr118Asn, XP_047286665.1:p.Thr118Ile, XP_047286667.1:p.Thr118Asn, XP_047286667.1:p.Thr118Ile, XP_047286668.1:p.Thr118Asn, XP_047286668.1:p.Thr118Ile, XP_047286670.1:p.Thr118Asn, XP_047286670.1:p.Thr118Ile

              7.

              rs1478476443 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                13:77634436 (GRCh38)
                13:78208571 (GRCh37)
                Canonical SPDI:
                NC_000013.11:77634435:A:C,NC_000013.11:77634435:A:G
                Gene:
                SCEL (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000031/1 (ALFA)
                G=0.000014/2 (GnomAD)
                HGVS:
                NC_000013.11:g.77634436A>C, NC_000013.11:g.77634436A>G, NC_000013.10:g.78208571A>C, NC_000013.10:g.78208571A>G, NM_003843.4:c.1689A>C, NM_003843.4:c.1689A>G, NM_003843.3:c.1689A>C, NM_003843.3:c.1689A>G, NM_144777.3:c.1749A>C, NM_144777.3:c.1749A>G, NM_144777.2:c.1749A>C, NM_144777.2:c.1749A>G, XM_011535285.3:c.1710A>C, XM_011535285.3:c.1710A>G, XM_011535285.2:c.1710A>C, XM_011535285.2:c.1710A>G, XM_011535285.1:c.1710A>C, XM_011535285.1:c.1710A>G, XM_011535283.2:c.1746A>C, XM_011535283.2:c.1746A>G, XM_011535283.1:c.1746A>C, XM_011535283.1:c.1746A>G, XM_011535282.2:c.1746A>C, XM_011535282.2:c.1746A>G, XM_011535282.1:c.1746A>C, XM_011535282.1:c.1746A>G, XM_011535281.2:c.1746A>C, XM_011535281.2:c.1746A>G, XM_011535281.1:c.1746A>C, XM_011535281.1:c.1746A>G, XM_011535284.2:c.1743A>C, XM_011535284.2:c.1743A>G, XM_011535284.1:c.1743A>C, XM_011535284.1:c.1743A>G, XM_011535286.2:c.1689A>C, XM_011535286.2:c.1689A>G, XM_011535286.1:c.1689A>C, XM_011535286.1:c.1689A>G, XM_006719882.2:c.1689A>C, XM_006719882.2:c.1689A>G, XM_006719882.1:c.1689A>C, XM_006719882.1:c.1689A>G, XM_011535287.2:c.1686A>C, XM_011535287.2:c.1686A>G, XM_011535287.1:c.1686A>C, XM_011535287.1:c.1686A>G, XM_006719884.2:c.1683A>C, XM_006719884.2:c.1683A>G, XM_006719884.1:c.1683A>C, XM_006719884.1:c.1683A>G, XM_005266578.2:c.1680A>C, XM_005266578.2:c.1680A>G, XM_005266578.1:c.1680A>C, XM_005266578.1:c.1680A>G, XM_011535288.2:c.1641A>C, XM_011535288.2:c.1641A>G, XM_011535288.1:c.1641A>C, XM_011535288.1:c.1641A>G, XM_006719885.2:c.1629A>C, XM_006719885.2:c.1629A>G, XM_006719885.1:c.1629A>C, XM_006719885.1:c.1629A>G, XM_011535289.2:c.1626A>C, XM_011535289.2:c.1626A>G, XM_011535289.1:c.1626A>C, XM_011535289.1:c.1626A>G, NM_001160706.2:c.1623A>C, NM_001160706.2:c.1623A>G, NM_001160706.1:c.1623A>C, NM_001160706.1:c.1623A>G, XM_011535290.2:c.1572A>C, XM_011535290.2:c.1572A>G, XM_011535290.1:c.1572A>C, XM_011535290.1:c.1572A>G, XM_017020805.2:c.1569A>C, XM_017020805.2:c.1569A>G, XM_017020805.1:c.1569A>C, XM_017020805.1:c.1569A>G, XM_011535291.2:c.1458A>C, XM_011535291.2:c.1458A>G, XM_011535291.1:c.1458A>C, XM_011535291.1:c.1458A>G, XM_047430710.1:c.1686A>C, XM_047430710.1:c.1686A>G, XM_047430709.1:c.1686A>C, XM_047430709.1:c.1686A>G, XM_047430711.1:c.1680A>C, XM_047430711.1:c.1680A>G, XM_047430712.1:c.1629A>C, XM_047430712.1:c.1629A>G, XM_047430713.1:c.1620A>C, XM_047430713.1:c.1620A>G, XM_047430714.1:c.1398A>C, XM_047430714.1:c.1398A>G

                8.

                rs1478131041 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  13:77610089 (GRCh38)
                  13:78184224 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:77610088:A:G
                  Gene:
                  SCEL (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000047/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000013.11:g.77610089A>G, NC_000013.10:g.78184224A>G, NM_003843.4:c.1260A>G, NM_003843.3:c.1260A>G, NM_144777.3:c.1320A>G, NM_144777.2:c.1320A>G, XM_011535285.3:c.1281A>G, XM_011535285.2:c.1281A>G, XM_011535285.1:c.1281A>G, XM_011535283.2:c.1320A>G, XM_011535283.1:c.1320A>G, XM_011535282.2:c.1317A>G, XM_011535282.1:c.1317A>G, XM_011535281.2:c.1317A>G, XM_011535281.1:c.1317A>G, XM_011535284.2:c.1314A>G, XM_011535284.1:c.1314A>G, XM_011535286.2:c.1260A>G, XM_011535286.1:c.1260A>G, XM_006719882.2:c.1260A>G, XM_006719882.1:c.1260A>G, XM_011535287.2:c.1257A>G, XM_011535287.1:c.1257A>G, XM_006719884.2:c.1254A>G, XM_006719884.1:c.1254A>G, XM_005266578.2:c.1251A>G, XM_005266578.1:c.1251A>G, XM_011535288.2:c.1212A>G, XM_011535288.1:c.1212A>G, XM_006719885.2:c.1200A>G, XM_006719885.1:c.1200A>G, XM_011535289.2:c.1197A>G, XM_011535289.1:c.1197A>G, NM_001160706.2:c.1194A>G, NM_001160706.1:c.1194A>G, XM_011535290.2:c.1320A>G, XM_011535290.1:c.1320A>G, XM_017020805.2:c.1320A>G, XM_017020805.1:c.1320A>G, XM_011535291.2:c.1320A>G, XM_011535291.1:c.1320A>G, XM_047430710.1:c.1260A>G, XM_047430709.1:c.1260A>G, XM_047430711.1:c.1251A>G, XM_047430712.1:c.1200A>G, XM_047430713.1:c.1191A>G, XM_047430714.1:c.1260A>G

                  9.

                  rs1478111050 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    13:77608096 (GRCh38)
                    13:78182231 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:77608095:G:T
                    Gene:
                    SCEL (Varview), SCEL-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000013.11:g.77608096G>T, NC_000013.10:g.78182231G>T, NM_003843.4:c.1138G>T, NM_003843.3:c.1138G>T, NM_144777.3:c.1198G>T, NM_144777.2:c.1198G>T, XM_011535285.3:c.1159G>T, XM_011535285.2:c.1159G>T, XM_011535285.1:c.1159G>T, XM_011535283.2:c.1198G>T, XM_011535283.1:c.1198G>T, XM_011535282.2:c.1195G>T, XM_011535282.1:c.1195G>T, XM_011535281.2:c.1195G>T, XM_011535281.1:c.1195G>T, XM_011535284.2:c.1192G>T, XM_011535284.1:c.1192G>T, XM_011535286.2:c.1138G>T, XM_011535286.1:c.1138G>T, XM_006719882.2:c.1138G>T, XM_006719882.1:c.1138G>T, XM_011535287.2:c.1135G>T, XM_011535287.1:c.1135G>T, XM_006719884.2:c.1132G>T, XM_006719884.1:c.1132G>T, XM_005266578.2:c.1129G>T, XM_005266578.1:c.1129G>T, XM_011535288.2:c.1090G>T, XM_011535288.1:c.1090G>T, XM_006719885.2:c.1078G>T, XM_006719885.1:c.1078G>T, XM_011535289.2:c.1075G>T, XM_011535289.1:c.1075G>T, NM_001160706.2:c.1072G>T, NM_001160706.1:c.1072G>T, XM_011535290.2:c.1198G>T, XM_011535290.1:c.1198G>T, XM_017020805.2:c.1198G>T, XM_017020805.1:c.1198G>T, XM_011535291.2:c.1198G>T, XM_011535291.1:c.1198G>T, XM_047430710.1:c.1138G>T, XM_047430709.1:c.1138G>T, XM_047430711.1:c.1129G>T, XM_047430712.1:c.1078G>T, XM_047430713.1:c.1069G>T, XM_047430714.1:c.1138G>T, NP_003834.3:p.Val380Leu, NP_659001.2:p.Val400Leu, XP_011533587.1:p.Val387Leu, XP_011533585.1:p.Val400Leu, XP_011533584.1:p.Val399Leu, XP_011533583.1:p.Val399Leu, XP_011533586.1:p.Val398Leu, XP_011533588.1:p.Val380Leu, XP_006719945.1:p.Val380Leu, XP_011533589.1:p.Val379Leu, XP_006719947.1:p.Val378Leu, XP_005266635.1:p.Val377Leu, XP_011533590.1:p.Val364Leu, XP_006719948.1:p.Val360Leu, XP_011533591.1:p.Val359Leu, NP_001154178.1:p.Val358Leu, XP_011533592.1:p.Val400Leu, XP_016876294.1:p.Val400Leu, XP_011533593.1:p.Val400Leu, XP_047286666.1:p.Val380Leu, XP_047286665.1:p.Val380Leu, XP_047286667.1:p.Val377Leu, XP_047286668.1:p.Val360Leu, XP_047286669.1:p.Val357Leu, XP_047286670.1:p.Val380Leu

                    10.

                    rs1477097476 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      13:77637149 (GRCh38)
                      13:78211284 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:77637148:A:C
                      Gene:
                      SCEL (Varview)
                      Functional Consequence:
                      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_000013.11:g.77637149A>C, NC_000013.10:g.78211284A>C, NM_003843.4:c.1733A>C, NM_003843.3:c.1733A>C, NM_144777.3:c.1793A>C, NM_144777.2:c.1793A>C, XM_011535285.3:c.1754A>C, XM_011535285.2:c.1754A>C, XM_011535285.1:c.1754A>C, XM_011535283.2:c.1790A>C, XM_011535283.1:c.1790A>C, XM_011535282.2:c.1790A>C, XM_011535282.1:c.1790A>C, XM_011535281.2:c.1790A>C, XM_011535281.1:c.1790A>C, XM_011535284.2:c.1787A>C, XM_011535284.1:c.1787A>C, XM_011535286.2:c.1733A>C, XM_011535286.1:c.1733A>C, XM_006719882.2:c.1733A>C, XM_006719882.1:c.1733A>C, XM_011535287.2:c.1730A>C, XM_011535287.1:c.1730A>C, XM_006719884.2:c.1727A>C, XM_006719884.1:c.1727A>C, XM_005266578.2:c.1724A>C, XM_005266578.1:c.1724A>C, XM_011535288.2:c.1685A>C, XM_011535288.1:c.1685A>C, XM_006719885.2:c.1673A>C, XM_006719885.1:c.1673A>C, XM_011535289.2:c.1670A>C, XM_011535289.1:c.1670A>C, NM_001160706.2:c.1667A>C, NM_001160706.1:c.1667A>C, XM_011535290.2:c.1616A>C, XM_011535290.1:c.1616A>C, XM_017020805.2:c.1613A>C, XM_017020805.1:c.1613A>C, XM_011535291.2:c.1502A>C, XM_011535291.1:c.1502A>C, XM_047430710.1:c.1730A>C, XM_047430709.1:c.1730A>C, XM_047430711.1:c.1724A>C, XM_047430712.1:c.1673A>C, XM_047430713.1:c.1664A>C, XM_047430714.1:c.1442A>C, NP_003834.3:p.Asn578Thr, NP_659001.2:p.Asn598Thr, XP_011533587.1:p.Asn585Thr, XP_011533585.1:p.Asn597Thr, XP_011533584.1:p.Asn597Thr, XP_011533583.1:p.Asn597Thr, XP_011533586.1:p.Asn596Thr, XP_011533588.1:p.Asn578Thr, XP_006719945.1:p.Asn578Thr, XP_011533589.1:p.Asn577Thr, XP_006719947.1:p.Asn576Thr, XP_005266635.1:p.Asn575Thr, XP_011533590.1:p.Asn562Thr, XP_006719948.1:p.Asn558Thr, XP_011533591.1:p.Asn557Thr, NP_001154178.1:p.Asn556Thr, XP_011533592.1:p.Asn539Thr, XP_016876294.1:p.Asn538Thr, XP_011533593.1:p.Asn501Thr, XP_047286666.1:p.Asn577Thr, XP_047286665.1:p.Asn577Thr, XP_047286667.1:p.Asn575Thr, XP_047286668.1:p.Asn558Thr, XP_047286669.1:p.Asn555Thr, XP_047286670.1:p.Asn481Thr

                      11.

                      rs1474813475 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->ACAT [Show Flanks]
                        Chromosome:
                        13:77555902 (GRCh38)
                        13:78130038 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:77555902:T:TACAT
                        Gene:
                        SCEL (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TACAT=0./0 (ALFA)
                        TACA=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000013.11:g.77555903_77555904insACAT, NC_000013.10:g.78130038_78130039insACAT, NM_003843.4:c.28_29insACAT, NM_003843.3:c.28_29insACAT, NM_144777.3:c.28_29insACAT, NM_144777.2:c.28_29insACAT, XM_011535285.3:c.28_29insACAT, XM_011535285.2:c.28_29insACAT, XM_011535285.1:c.28_29insACAT, XM_011535283.2:c.28_29insACAT, XM_011535283.1:c.28_29insACAT, XM_011535282.2:c.28_29insACAT, XM_011535282.1:c.28_29insACAT, XM_011535281.2:c.28_29insACAT, XM_011535281.1:c.28_29insACAT, XM_011535284.2:c.28_29insACAT, XM_011535284.1:c.28_29insACAT, XM_011535286.2:c.28_29insACAT, XM_011535286.1:c.28_29insACAT, XM_006719882.2:c.28_29insACAT, XM_006719882.1:c.28_29insACAT, XM_011535287.2:c.28_29insACAT, XM_011535287.1:c.28_29insACAT, XM_006719884.2:c.28_29insACAT, XM_006719884.1:c.28_29insACAT, XM_005266578.2:c.28_29insACAT, XM_005266578.1:c.28_29insACAT, XM_011535288.2:c.28_29insACAT, XM_011535288.1:c.28_29insACAT, XM_006719885.2:c.28_29insACAT, XM_006719885.1:c.28_29insACAT, XM_011535289.2:c.28_29insACAT, XM_011535289.1:c.28_29insACAT, NM_001160706.2:c.28_29insACAT, NM_001160706.1:c.28_29insACAT, XM_011535290.2:c.28_29insACAT, XM_011535290.1:c.28_29insACAT, XM_017020805.2:c.28_29insACAT, XM_017020805.1:c.28_29insACAT, XM_011535291.2:c.28_29insACAT, XM_011535291.1:c.28_29insACAT, XM_047430710.1:c.28_29insACAT, XM_047430709.1:c.28_29insACAT, XM_047430711.1:c.28_29insACAT, XM_047430712.1:c.28_29insACAT, XM_047430713.1:c.28_29insACAT, XM_047430714.1:c.28_29insACAT, NP_003834.3:p.Ser10fs, NP_659001.2:p.Ser10fs, XP_011533587.1:p.Ser10fs, XP_011533585.1:p.Ser10fs, XP_011533584.1:p.Ser10fs, XP_011533583.1:p.Ser10fs, XP_011533586.1:p.Ser10fs, XP_011533588.1:p.Ser10fs, XP_006719945.1:p.Ser10fs, XP_011533589.1:p.Ser10fs, XP_006719947.1:p.Ser10fs, XP_005266635.1:p.Ser10fs, XP_011533590.1:p.Ser10fs, XP_006719948.1:p.Ser10fs, XP_011533591.1:p.Ser10fs, NP_001154178.1:p.Ser10fs, XP_011533592.1:p.Ser10fs, XP_016876294.1:p.Ser10fs, XP_011533593.1:p.Ser10fs, XP_047286666.1:p.Ser10fs, XP_047286665.1:p.Ser10fs, XP_047286667.1:p.Ser10fs, XP_047286668.1:p.Ser10fs, XP_047286669.1:p.Ser10fs, XP_047286670.1:p.Ser10fs

                        12.

                        rs1472665902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          13:77612939 (GRCh38)
                          13:78187074 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:77612938:A:C
                          Gene:
                          SCEL (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.77612939A>C, NC_000013.10:g.78187074A>C, NM_003843.4:c.1326A>C, NM_003843.3:c.1326A>C, NM_144777.3:c.1386A>C, NM_144777.2:c.1386A>C, XM_011535285.3:c.1347A>C, XM_011535285.2:c.1347A>C, XM_011535285.1:c.1347A>C, XM_011535283.2:c.1386A>C, XM_011535283.1:c.1386A>C, XM_011535282.2:c.1383A>C, XM_011535282.1:c.1383A>C, XM_011535281.2:c.1383A>C, XM_011535281.1:c.1383A>C, XM_011535284.2:c.1380A>C, XM_011535284.1:c.1380A>C, XM_011535286.2:c.1326A>C, XM_011535286.1:c.1326A>C, XM_006719882.2:c.1326A>C, XM_006719882.1:c.1326A>C, XM_011535287.2:c.1323A>C, XM_011535287.1:c.1323A>C, XM_006719884.2:c.1320A>C, XM_006719884.1:c.1320A>C, XM_005266578.2:c.1317A>C, XM_005266578.1:c.1317A>C, XM_011535288.2:c.1278A>C, XM_011535288.1:c.1278A>C, XM_006719885.2:c.1266A>C, XM_006719885.1:c.1266A>C, XM_011535289.2:c.1263A>C, XM_011535289.1:c.1263A>C, NM_001160706.2:c.1260A>C, NM_001160706.1:c.1260A>C, XM_011535290.2:c.1386A>C, XM_011535290.1:c.1386A>C, XM_017020805.2:c.1386A>C, XM_017020805.1:c.1386A>C, XM_047430710.1:c.1326A>C, XM_047430709.1:c.1326A>C, XM_047430711.1:c.1317A>C, XM_047430712.1:c.1266A>C, XM_047430713.1:c.1257A>C, NP_003834.3:p.Lys442Asn, NP_659001.2:p.Lys462Asn, XP_011533587.1:p.Lys449Asn, XP_011533585.1:p.Lys462Asn, XP_011533584.1:p.Lys461Asn, XP_011533583.1:p.Lys461Asn, XP_011533586.1:p.Lys460Asn, XP_011533588.1:p.Lys442Asn, XP_006719945.1:p.Lys442Asn, XP_011533589.1:p.Lys441Asn, XP_006719947.1:p.Lys440Asn, XP_005266635.1:p.Lys439Asn, XP_011533590.1:p.Lys426Asn, XP_006719948.1:p.Lys422Asn, XP_011533591.1:p.Lys421Asn, NP_001154178.1:p.Lys420Asn, XP_011533592.1:p.Lys462Asn, XP_016876294.1:p.Lys462Asn, XP_047286666.1:p.Lys442Asn, XP_047286665.1:p.Lys442Asn, XP_047286667.1:p.Lys439Asn, XP_047286668.1:p.Lys422Asn, XP_047286669.1:p.Lys419Asn

                          13.

                          rs1470449965 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            13:77569375 (GRCh38)
                            13:78143510 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:77569374:C:T
                            Gene:
                            SCEL (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000013.11:g.77569375C>T, NC_000013.10:g.78143510C>T, NM_003843.4:c.403C>T, NM_003843.3:c.403C>T, NM_144777.3:c.403C>T, NM_144777.2:c.403C>T, XM_011535285.3:c.364C>T, XM_011535285.2:c.364C>T, XM_011535285.1:c.364C>T, XM_011535283.2:c.403C>T, XM_011535283.1:c.403C>T, XM_011535282.2:c.403C>T, XM_011535282.1:c.403C>T, XM_011535281.2:c.403C>T, XM_011535281.1:c.403C>T, XM_011535284.2:c.403C>T, XM_011535284.1:c.403C>T, XM_011535286.2:c.403C>T, XM_011535286.1:c.403C>T, XM_006719882.2:c.403C>T, XM_006719882.1:c.403C>T, XM_011535287.2:c.403C>T, XM_011535287.1:c.403C>T, XM_006719884.2:c.403C>T, XM_006719884.1:c.403C>T, XM_005266578.2:c.334C>T, XM_005266578.1:c.334C>T, XM_011535288.2:c.295C>T, XM_011535288.1:c.295C>T, XM_006719885.2:c.403C>T, XM_006719885.1:c.403C>T, XM_011535289.2:c.403C>T, XM_011535289.1:c.403C>T, NM_001160706.2:c.403C>T, NM_001160706.1:c.403C>T, XM_011535290.2:c.403C>T, XM_011535290.1:c.403C>T, XM_017020805.2:c.403C>T, XM_017020805.1:c.403C>T, XM_011535291.2:c.403C>T, XM_011535291.1:c.403C>T, XM_047430710.1:c.403C>T, XM_047430709.1:c.403C>T, XM_047430711.1:c.403C>T, XM_047430712.1:c.403C>T, XM_047430713.1:c.334C>T, XM_047430714.1:c.403C>T, NP_003834.3:p.Pro135Ser, NP_659001.2:p.Pro135Ser, XP_011533587.1:p.Pro122Ser, XP_011533585.1:p.Pro135Ser, XP_011533584.1:p.Pro135Ser, XP_011533583.1:p.Pro135Ser, XP_011533586.1:p.Pro135Ser, XP_011533588.1:p.Pro135Ser, XP_006719945.1:p.Pro135Ser, XP_011533589.1:p.Pro135Ser, XP_006719947.1:p.Pro135Ser, XP_005266635.1:p.Pro112Ser, XP_011533590.1:p.Pro99Ser, XP_006719948.1:p.Pro135Ser, XP_011533591.1:p.Pro135Ser, NP_001154178.1:p.Pro135Ser, XP_011533592.1:p.Pro135Ser, XP_016876294.1:p.Pro135Ser, XP_011533593.1:p.Pro135Ser, XP_047286666.1:p.Pro135Ser, XP_047286665.1:p.Pro135Ser, XP_047286667.1:p.Pro135Ser, XP_047286668.1:p.Pro135Ser, XP_047286669.1:p.Pro112Ser, XP_047286670.1:p.Pro135Ser

                            14.

                            rs1463262955 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              13:77634427 (GRCh38)
                              13:78208562 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:77634426:C:A,NC_000013.11:77634426:C:T
                              Gene:
                              SCEL (Varview)
                              Functional Consequence:
                              stop_gained,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000013.11:g.77634427C>A, NC_000013.11:g.77634427C>T, NC_000013.10:g.78208562C>A, NC_000013.10:g.78208562C>T, NM_003843.4:c.1680C>A, NM_003843.4:c.1680C>T, NM_003843.3:c.1680C>A, NM_003843.3:c.1680C>T, NM_144777.3:c.1740C>A, NM_144777.3:c.1740C>T, NM_144777.2:c.1740C>A, NM_144777.2:c.1740C>T, XM_011535285.3:c.1701C>A, XM_011535285.3:c.1701C>T, XM_011535285.2:c.1701C>A, XM_011535285.2:c.1701C>T, XM_011535285.1:c.1701C>A, XM_011535285.1:c.1701C>T, XM_011535283.2:c.1737C>A, XM_011535283.2:c.1737C>T, XM_011535283.1:c.1737C>A, XM_011535283.1:c.1737C>T, XM_011535282.2:c.1737C>A, XM_011535282.2:c.1737C>T, XM_011535282.1:c.1737C>A, XM_011535282.1:c.1737C>T, XM_011535281.2:c.1737C>A, XM_011535281.2:c.1737C>T, XM_011535281.1:c.1737C>A, XM_011535281.1:c.1737C>T, XM_011535284.2:c.1734C>A, XM_011535284.2:c.1734C>T, XM_011535284.1:c.1734C>A, XM_011535284.1:c.1734C>T, XM_011535286.2:c.1680C>A, XM_011535286.2:c.1680C>T, XM_011535286.1:c.1680C>A, XM_011535286.1:c.1680C>T, XM_006719882.2:c.1680C>A, XM_006719882.2:c.1680C>T, XM_006719882.1:c.1680C>A, XM_006719882.1:c.1680C>T, XM_011535287.2:c.1677C>A, XM_011535287.2:c.1677C>T, XM_011535287.1:c.1677C>A, XM_011535287.1:c.1677C>T, XM_006719884.2:c.1674C>A, XM_006719884.2:c.1674C>T, XM_006719884.1:c.1674C>A, XM_006719884.1:c.1674C>T, XM_005266578.2:c.1671C>A, XM_005266578.2:c.1671C>T, XM_005266578.1:c.1671C>A, XM_005266578.1:c.1671C>T, XM_011535288.2:c.1632C>A, XM_011535288.2:c.1632C>T, XM_011535288.1:c.1632C>A, XM_011535288.1:c.1632C>T, XM_006719885.2:c.1620C>A, XM_006719885.2:c.1620C>T, XM_006719885.1:c.1620C>A, XM_006719885.1:c.1620C>T, XM_011535289.2:c.1617C>A, XM_011535289.2:c.1617C>T, XM_011535289.1:c.1617C>A, XM_011535289.1:c.1617C>T, NM_001160706.2:c.1614C>A, NM_001160706.2:c.1614C>T, NM_001160706.1:c.1614C>A, NM_001160706.1:c.1614C>T, XM_011535290.2:c.1563C>A, XM_011535290.2:c.1563C>T, XM_011535290.1:c.1563C>A, XM_011535290.1:c.1563C>T, XM_017020805.2:c.1560C>A, XM_017020805.2:c.1560C>T, XM_017020805.1:c.1560C>A, XM_017020805.1:c.1560C>T, XM_011535291.2:c.1449C>A, XM_011535291.2:c.1449C>T, XM_011535291.1:c.1449C>A, XM_011535291.1:c.1449C>T, XM_047430710.1:c.1677C>A, XM_047430710.1:c.1677C>T, XM_047430709.1:c.1677C>A, XM_047430709.1:c.1677C>T, XM_047430711.1:c.1671C>A, XM_047430711.1:c.1671C>T, XM_047430712.1:c.1620C>A, XM_047430712.1:c.1620C>T, XM_047430713.1:c.1611C>A, XM_047430713.1:c.1611C>T, XM_047430714.1:c.1389C>A, XM_047430714.1:c.1389C>T, NP_003834.3:p.Tyr560Ter, NP_659001.2:p.Tyr580Ter, XP_011533587.1:p.Tyr567Ter, XP_011533585.1:p.Tyr579Ter, XP_011533584.1:p.Tyr579Ter, XP_011533583.1:p.Tyr579Ter, XP_011533586.1:p.Tyr578Ter, XP_011533588.1:p.Tyr560Ter, XP_006719945.1:p.Tyr560Ter, XP_011533589.1:p.Tyr559Ter, XP_006719947.1:p.Tyr558Ter, XP_005266635.1:p.Tyr557Ter, XP_011533590.1:p.Tyr544Ter, XP_006719948.1:p.Tyr540Ter, XP_011533591.1:p.Tyr539Ter, NP_001154178.1:p.Tyr538Ter, XP_011533592.1:p.Tyr521Ter, XP_016876294.1:p.Tyr520Ter, XP_011533593.1:p.Tyr483Ter, XP_047286666.1:p.Tyr559Ter, XP_047286665.1:p.Tyr559Ter, XP_047286667.1:p.Tyr557Ter, XP_047286668.1:p.Tyr540Ter, XP_047286669.1:p.Tyr537Ter, XP_047286670.1:p.Tyr463Ter

                              15.

                              rs1462755525 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                13:77572175 (GRCh38)
                                13:78146310 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:77572174:A:G,NC_000013.11:77572174:A:T
                                Gene:
                                SCEL (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000013.11:g.77572175A>G, NC_000013.11:g.77572175A>T, NC_000013.10:g.78146310A>G, NC_000013.10:g.78146310A>T, NM_003843.4:c.531A>G, NM_003843.4:c.531A>T, NM_003843.3:c.531A>G, NM_003843.3:c.531A>T, NM_144777.3:c.531A>G, NM_144777.3:c.531A>T, NM_144777.2:c.531A>G, NM_144777.2:c.531A>T, XM_011535285.3:c.492A>G, XM_011535285.3:c.492A>T, XM_011535285.2:c.492A>G, XM_011535285.2:c.492A>T, XM_011535285.1:c.492A>G, XM_011535285.1:c.492A>T, XM_011535283.2:c.531A>G, XM_011535283.2:c.531A>T, XM_011535283.1:c.531A>G, XM_011535283.1:c.531A>T, XM_011535282.2:c.531A>G, XM_011535282.2:c.531A>T, XM_011535282.1:c.531A>G, XM_011535282.1:c.531A>T, XM_011535281.2:c.531A>G, XM_011535281.2:c.531A>T, XM_011535281.1:c.531A>G, XM_011535281.1:c.531A>T, XM_011535284.2:c.531A>G, XM_011535284.2:c.531A>T, XM_011535284.1:c.531A>G, XM_011535284.1:c.531A>T, XM_011535286.2:c.531A>G, XM_011535286.2:c.531A>T, XM_011535286.1:c.531A>G, XM_011535286.1:c.531A>T, XM_006719882.2:c.531A>G, XM_006719882.2:c.531A>T, XM_006719882.1:c.531A>G, XM_006719882.1:c.531A>T, XM_011535287.2:c.531A>G, XM_011535287.2:c.531A>T, XM_011535287.1:c.531A>G, XM_011535287.1:c.531A>T, XM_005266578.2:c.462A>G, XM_005266578.2:c.462A>T, XM_005266578.1:c.462A>G, XM_005266578.1:c.462A>T, XM_011535288.2:c.423A>G, XM_011535288.2:c.423A>T, XM_011535288.1:c.423A>G, XM_011535288.1:c.423A>T, XM_006719885.2:c.531A>G, XM_006719885.2:c.531A>T, XM_006719885.1:c.531A>G, XM_006719885.1:c.531A>T, XM_011535289.2:c.531A>G, XM_011535289.2:c.531A>T, XM_011535289.1:c.531A>G, XM_011535289.1:c.531A>T, XM_011535290.2:c.531A>G, XM_011535290.2:c.531A>T, XM_011535290.1:c.531A>G, XM_011535290.1:c.531A>T, XM_017020805.2:c.531A>G, XM_017020805.2:c.531A>T, XM_017020805.1:c.531A>G, XM_017020805.1:c.531A>T, XM_011535291.2:c.531A>G, XM_011535291.2:c.531A>T, XM_011535291.1:c.531A>G, XM_011535291.1:c.531A>T, XM_047430710.1:c.531A>G, XM_047430710.1:c.531A>T, XM_047430709.1:c.531A>G, XM_047430709.1:c.531A>T, XM_047430712.1:c.531A>G, XM_047430712.1:c.531A>T, XM_047430713.1:c.462A>G, XM_047430713.1:c.462A>T, XM_047430714.1:c.531A>G, XM_047430714.1:c.531A>T

                                16.

                                rs1461967836 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:77591401 (GRCh38)
                                  13:78165536 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:77591400:A:G
                                  Gene:
                                  SCEL (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000342/1 (KOREAN)
                                  G=0.001026/17 (TOMMO)
                                  HGVS:
                                  NC_000013.11:g.77591401A>G, NC_000013.10:g.78165536A>G, NM_003843.4:c.633A>G, NM_003843.3:c.633A>G, NM_144777.3:c.633A>G, NM_144777.2:c.633A>G, XM_011535285.3:c.594A>G, XM_011535285.2:c.594A>G, XM_011535285.1:c.594A>G, XM_011535283.2:c.633A>G, XM_011535283.1:c.633A>G, XM_011535282.2:c.633A>G, XM_011535282.1:c.633A>G, XM_011535281.2:c.633A>G, XM_011535281.1:c.633A>G, XM_011535284.2:c.633A>G, XM_011535284.1:c.633A>G, XM_011535286.2:c.633A>G, XM_011535286.1:c.633A>G, XM_006719882.2:c.633A>G, XM_006719882.1:c.633A>G, XM_011535287.2:c.633A>G, XM_011535287.1:c.633A>G, XM_006719884.2:c.567A>G, XM_006719884.1:c.567A>G, XM_005266578.2:c.564A>G, XM_005266578.1:c.564A>G, XM_011535288.2:c.525A>G, XM_011535288.1:c.525A>G, XM_006719885.2:c.633A>G, XM_006719885.1:c.633A>G, XM_011535289.2:c.633A>G, XM_011535289.1:c.633A>G, NM_001160706.2:c.567A>G, NM_001160706.1:c.567A>G, XM_011535290.2:c.633A>G, XM_011535290.1:c.633A>G, XM_017020805.2:c.633A>G, XM_017020805.1:c.633A>G, XM_011535291.2:c.633A>G, XM_011535291.1:c.633A>G, XM_047430710.1:c.633A>G, XM_047430709.1:c.633A>G, XM_047430711.1:c.567A>G, XM_047430712.1:c.633A>G, XM_047430713.1:c.564A>G, XM_047430714.1:c.633A>G, NP_003834.3:p.Ile211Met, NP_659001.2:p.Ile211Met, XP_011533587.1:p.Ile198Met, XP_011533585.1:p.Ile211Met, XP_011533584.1:p.Ile211Met, XP_011533583.1:p.Ile211Met, XP_011533586.1:p.Ile211Met, XP_011533588.1:p.Ile211Met, XP_006719945.1:p.Ile211Met, XP_011533589.1:p.Ile211Met, XP_006719947.1:p.Ile189Met, XP_005266635.1:p.Ile188Met, XP_011533590.1:p.Ile175Met, XP_006719948.1:p.Ile211Met, XP_011533591.1:p.Ile211Met, NP_001154178.1:p.Ile189Met, XP_011533592.1:p.Ile211Met, XP_016876294.1:p.Ile211Met, XP_011533593.1:p.Ile211Met, XP_047286666.1:p.Ile211Met, XP_047286665.1:p.Ile211Met, XP_047286667.1:p.Ile189Met, XP_047286668.1:p.Ile211Met, XP_047286669.1:p.Ile188Met, XP_047286670.1:p.Ile211Met

                                  17.

                                  rs1460379202 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    13:77602073 (GRCh38)
                                    13:78176208 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:77602072:G:T
                                    Gene:
                                    SCEL (Varview), SCEL-AS1 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000013.11:g.77602073G>T, NC_000013.10:g.78176208G>T, NM_003843.4:c.866G>T, NM_003843.3:c.866G>T, NM_144777.3:c.926G>T, NM_144777.2:c.926G>T, XM_011535285.3:c.887G>T, XM_011535285.2:c.887G>T, XM_011535285.1:c.887G>T, XM_011535283.2:c.926G>T, XM_011535283.1:c.926G>T, XM_011535282.2:c.926G>T, XM_011535282.1:c.926G>T, XM_011535281.2:c.926G>T, XM_011535281.1:c.926G>T, XM_011535284.2:c.926G>T, XM_011535284.1:c.926G>T, XM_011535286.2:c.926G>T, XM_011535286.1:c.926G>T, XM_006719882.2:c.866G>T, XM_006719882.1:c.866G>T, XM_011535287.2:c.926G>T, XM_011535287.1:c.926G>T, XM_006719884.2:c.860G>T, XM_006719884.1:c.860G>T, XM_005266578.2:c.857G>T, XM_005266578.1:c.857G>T, XM_011535288.2:c.818G>T, XM_011535288.1:c.818G>T, XM_006719885.2:c.806G>T, XM_006719885.1:c.806G>T, XM_011535289.2:c.806G>T, XM_011535289.1:c.806G>T, NM_001160706.2:c.860G>T, NM_001160706.1:c.860G>T, XM_011535290.2:c.926G>T, XM_011535290.1:c.926G>T, XM_017020805.2:c.926G>T, XM_017020805.1:c.926G>T, XM_011535291.2:c.926G>T, XM_011535291.1:c.926G>T, XM_047430710.1:c.926G>T, XM_047430709.1:c.866G>T, XM_047430711.1:c.860G>T, XM_047430712.1:c.866G>T, XM_047430713.1:c.857G>T, XM_047430714.1:c.926G>T, NP_003834.3:p.Ser289Ile, NP_659001.2:p.Ser309Ile, XP_011533587.1:p.Ser296Ile, XP_011533585.1:p.Ser309Ile, XP_011533584.1:p.Ser309Ile, XP_011533583.1:p.Ser309Ile, XP_011533586.1:p.Ser309Ile, XP_011533588.1:p.Ser309Ile, XP_006719945.1:p.Ser289Ile, XP_011533589.1:p.Ser309Ile, XP_006719947.1:p.Ser287Ile, XP_005266635.1:p.Ser286Ile, XP_011533590.1:p.Ser273Ile, XP_006719948.1:p.Ser269Ile, XP_011533591.1:p.Ser269Ile, NP_001154178.1:p.Ser287Ile, XP_011533592.1:p.Ser309Ile, XP_016876294.1:p.Ser309Ile, XP_011533593.1:p.Ser309Ile, XP_047286666.1:p.Ser309Ile, XP_047286665.1:p.Ser289Ile, XP_047286667.1:p.Ser287Ile, XP_047286668.1:p.Ser289Ile, XP_047286669.1:p.Ser286Ile, XP_047286670.1:p.Ser309Ile

                                    18.

                                    rs1459246922 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:77617842 (GRCh38)
                                      13:78191977 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:77617841:A:G
                                      Gene:
                                      SCEL (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000013.11:g.77617842A>G, NC_000013.10:g.78191977A>G, NM_003843.4:c.1491A>G, NM_003843.3:c.1491A>G, NM_144777.3:c.1551A>G, NM_144777.2:c.1551A>G, XM_011535285.3:c.1512A>G, XM_011535285.2:c.1512A>G, XM_011535285.1:c.1512A>G, XM_011535283.2:c.1548A>G, XM_011535283.1:c.1548A>G, XM_011535282.2:c.1548A>G, XM_011535282.1:c.1548A>G, XM_011535281.2:c.1548A>G, XM_011535281.1:c.1548A>G, XM_011535284.2:c.1545A>G, XM_011535284.1:c.1545A>G, XM_011535286.2:c.1491A>G, XM_011535286.1:c.1491A>G, XM_006719882.2:c.1491A>G, XM_006719882.1:c.1491A>G, XM_011535287.2:c.1488A>G, XM_011535287.1:c.1488A>G, XM_006719884.2:c.1485A>G, XM_006719884.1:c.1485A>G, XM_005266578.2:c.1482A>G, XM_005266578.1:c.1482A>G, XM_011535288.2:c.1443A>G, XM_011535288.1:c.1443A>G, XM_006719885.2:c.1431A>G, XM_006719885.1:c.1431A>G, XM_011535289.2:c.1428A>G, XM_011535289.1:c.1428A>G, NM_001160706.2:c.1425A>G, NM_001160706.1:c.1425A>G, XM_047430710.1:c.1488A>G, XM_047430709.1:c.1488A>G, XM_047430711.1:c.1482A>G, XM_047430712.1:c.1431A>G, XM_047430713.1:c.1422A>G

                                      19.

                                      rs1457149275 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        13:77610080 (GRCh38)
                                        13:78184215 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:77610079:T:G
                                        Gene:
                                        SCEL (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000013.11:g.77610080T>G, NC_000013.10:g.78184215T>G, NM_003843.4:c.1251T>G, NM_003843.3:c.1251T>G, NM_144777.3:c.1311T>G, NM_144777.2:c.1311T>G, XM_011535285.3:c.1272T>G, XM_011535285.2:c.1272T>G, XM_011535285.1:c.1272T>G, XM_011535283.2:c.1311T>G, XM_011535283.1:c.1311T>G, XM_011535282.2:c.1308T>G, XM_011535282.1:c.1308T>G, XM_011535281.2:c.1308T>G, XM_011535281.1:c.1308T>G, XM_011535284.2:c.1305T>G, XM_011535284.1:c.1305T>G, XM_011535286.2:c.1251T>G, XM_011535286.1:c.1251T>G, XM_006719882.2:c.1251T>G, XM_006719882.1:c.1251T>G, XM_011535287.2:c.1248T>G, XM_011535287.1:c.1248T>G, XM_006719884.2:c.1245T>G, XM_006719884.1:c.1245T>G, XM_005266578.2:c.1242T>G, XM_005266578.1:c.1242T>G, XM_011535288.2:c.1203T>G, XM_011535288.1:c.1203T>G, XM_006719885.2:c.1191T>G, XM_006719885.1:c.1191T>G, XM_011535289.2:c.1188T>G, XM_011535289.1:c.1188T>G, NM_001160706.2:c.1185T>G, NM_001160706.1:c.1185T>G, XM_011535290.2:c.1311T>G, XM_011535290.1:c.1311T>G, XM_017020805.2:c.1311T>G, XM_017020805.1:c.1311T>G, XM_011535291.2:c.1311T>G, XM_011535291.1:c.1311T>G, XM_047430710.1:c.1251T>G, XM_047430709.1:c.1251T>G, XM_047430711.1:c.1242T>G, XM_047430712.1:c.1191T>G, XM_047430713.1:c.1182T>G, XM_047430714.1:c.1251T>G

                                        20.

                                        rs1455426920 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          13:77556665 (GRCh38)
                                          13:78130800 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:77556664:C:A,NC_000013.11:77556664:C:G,NC_000013.11:77556664:C:T
                                          Gene:
                                          SCEL (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.77556665C>A, NC_000013.11:g.77556665C>G, NC_000013.11:g.77556665C>T, NC_000013.10:g.78130800C>A, NC_000013.10:g.78130800C>G, NC_000013.10:g.78130800C>T, NM_003843.4:c.113C>A, NM_003843.4:c.113C>G, NM_003843.4:c.113C>T, NM_003843.3:c.113C>A, NM_003843.3:c.113C>G, NM_003843.3:c.113C>T, NM_144777.3:c.113C>A, NM_144777.3:c.113C>G, NM_144777.3:c.113C>T, NM_144777.2:c.113C>A, NM_144777.2:c.113C>G, NM_144777.2:c.113C>T, XM_011535285.3:c.113C>A, XM_011535285.3:c.113C>G, XM_011535285.3:c.113C>T, XM_011535285.2:c.113C>A, XM_011535285.2:c.113C>G, XM_011535285.2:c.113C>T, XM_011535285.1:c.113C>A, XM_011535285.1:c.113C>G, XM_011535285.1:c.113C>T, XM_011535283.2:c.113C>A, XM_011535283.2:c.113C>G, XM_011535283.2:c.113C>T, XM_011535283.1:c.113C>A, XM_011535283.1:c.113C>G, XM_011535283.1:c.113C>T, XM_011535282.2:c.113C>A, XM_011535282.2:c.113C>G, XM_011535282.2:c.113C>T, XM_011535282.1:c.113C>A, XM_011535282.1:c.113C>G, XM_011535282.1:c.113C>T, XM_011535281.2:c.113C>A, XM_011535281.2:c.113C>G, XM_011535281.2:c.113C>T, XM_011535281.1:c.113C>A, XM_011535281.1:c.113C>G, XM_011535281.1:c.113C>T, XM_011535284.2:c.113C>A, XM_011535284.2:c.113C>G, XM_011535284.2:c.113C>T, XM_011535284.1:c.113C>A, XM_011535284.1:c.113C>G, XM_011535284.1:c.113C>T, XM_011535286.2:c.113C>A, XM_011535286.2:c.113C>G, XM_011535286.2:c.113C>T, XM_011535286.1:c.113C>A, XM_011535286.1:c.113C>G, XM_011535286.1:c.113C>T, XM_006719882.2:c.113C>A, XM_006719882.2:c.113C>G, XM_006719882.2:c.113C>T, XM_006719882.1:c.113C>A, XM_006719882.1:c.113C>G, XM_006719882.1:c.113C>T, XM_011535287.2:c.113C>A, XM_011535287.2:c.113C>G, XM_011535287.2:c.113C>T, XM_011535287.1:c.113C>A, XM_011535287.1:c.113C>G, XM_011535287.1:c.113C>T, XM_006719884.2:c.113C>A, XM_006719884.2:c.113C>G, XM_006719884.2:c.113C>T, XM_006719884.1:c.113C>A, XM_006719884.1:c.113C>G, XM_006719884.1:c.113C>T, XM_005266578.2:c.113C>A, XM_005266578.2:c.113C>G, XM_005266578.2:c.113C>T, XM_005266578.1:c.113C>A, XM_005266578.1:c.113C>G, XM_005266578.1:c.113C>T, XM_011535288.2:c.113C>A, XM_011535288.2:c.113C>G, XM_011535288.2:c.113C>T, XM_011535288.1:c.113C>A, XM_011535288.1:c.113C>G, XM_011535288.1:c.113C>T, XM_006719885.2:c.113C>A, XM_006719885.2:c.113C>G, XM_006719885.2:c.113C>T, XM_006719885.1:c.113C>A, XM_006719885.1:c.113C>G, XM_006719885.1:c.113C>T, XM_011535289.2:c.113C>A, XM_011535289.2:c.113C>G, XM_011535289.2:c.113C>T, XM_011535289.1:c.113C>A, XM_011535289.1:c.113C>G, XM_011535289.1:c.113C>T, NM_001160706.2:c.113C>A, NM_001160706.2:c.113C>G, NM_001160706.2:c.113C>T, NM_001160706.1:c.113C>A, NM_001160706.1:c.113C>G, NM_001160706.1:c.113C>T, XM_011535290.2:c.113C>A, XM_011535290.2:c.113C>G, XM_011535290.2:c.113C>T, XM_011535290.1:c.113C>A, XM_011535290.1:c.113C>G, XM_011535290.1:c.113C>T, XM_017020805.2:c.113C>A, XM_017020805.2:c.113C>G, XM_017020805.2:c.113C>T, XM_017020805.1:c.113C>A, XM_017020805.1:c.113C>G, XM_017020805.1:c.113C>T, XM_011535291.2:c.113C>A, XM_011535291.2:c.113C>G, XM_011535291.2:c.113C>T, XM_011535291.1:c.113C>A, XM_011535291.1:c.113C>G, XM_011535291.1:c.113C>T, XM_047430710.1:c.113C>A, XM_047430710.1:c.113C>G, XM_047430710.1:c.113C>T, XM_047430709.1:c.113C>A, XM_047430709.1:c.113C>G, XM_047430709.1:c.113C>T, XM_047430711.1:c.113C>A, XM_047430711.1:c.113C>G, XM_047430711.1:c.113C>T, XM_047430712.1:c.113C>A, XM_047430712.1:c.113C>G, XM_047430712.1:c.113C>T, XM_047430713.1:c.113C>A, XM_047430713.1:c.113C>G, XM_047430713.1:c.113C>T, XM_047430714.1:c.113C>A, XM_047430714.1:c.113C>G, XM_047430714.1:c.113C>T, NP_003834.3:p.Thr38Asn, NP_003834.3:p.Thr38Ser, NP_003834.3:p.Thr38Ile, NP_659001.2:p.Thr38Asn, NP_659001.2:p.Thr38Ser, NP_659001.2:p.Thr38Ile, XP_011533587.1:p.Thr38Asn, XP_011533587.1:p.Thr38Ser, XP_011533587.1:p.Thr38Ile, XP_011533585.1:p.Thr38Asn, XP_011533585.1:p.Thr38Ser, XP_011533585.1:p.Thr38Ile, XP_011533584.1:p.Thr38Asn, XP_011533584.1:p.Thr38Ser, XP_011533584.1:p.Thr38Ile, XP_011533583.1:p.Thr38Asn, XP_011533583.1:p.Thr38Ser, XP_011533583.1:p.Thr38Ile, XP_011533586.1:p.Thr38Asn, XP_011533586.1:p.Thr38Ser, XP_011533586.1:p.Thr38Ile, XP_011533588.1:p.Thr38Asn, XP_011533588.1:p.Thr38Ser, XP_011533588.1:p.Thr38Ile, XP_006719945.1:p.Thr38Asn, XP_006719945.1:p.Thr38Ser, XP_006719945.1:p.Thr38Ile, XP_011533589.1:p.Thr38Asn, XP_011533589.1:p.Thr38Ser, XP_011533589.1:p.Thr38Ile, XP_006719947.1:p.Thr38Asn, XP_006719947.1:p.Thr38Ser, XP_006719947.1:p.Thr38Ile, XP_005266635.1:p.Thr38Asn, XP_005266635.1:p.Thr38Ser, XP_005266635.1:p.Thr38Ile, XP_011533590.1:p.Thr38Asn, XP_011533590.1:p.Thr38Ser, XP_011533590.1:p.Thr38Ile, XP_006719948.1:p.Thr38Asn, XP_006719948.1:p.Thr38Ser, XP_006719948.1:p.Thr38Ile, XP_011533591.1:p.Thr38Asn, XP_011533591.1:p.Thr38Ser, XP_011533591.1:p.Thr38Ile, NP_001154178.1:p.Thr38Asn, NP_001154178.1:p.Thr38Ser, NP_001154178.1:p.Thr38Ile, XP_011533592.1:p.Thr38Asn, XP_011533592.1:p.Thr38Ser, XP_011533592.1:p.Thr38Ile, XP_016876294.1:p.Thr38Asn, XP_016876294.1:p.Thr38Ser, XP_016876294.1:p.Thr38Ile, XP_011533593.1:p.Thr38Asn, XP_011533593.1:p.Thr38Ser, XP_011533593.1:p.Thr38Ile, XP_047286666.1:p.Thr38Asn, XP_047286666.1:p.Thr38Ser, XP_047286666.1:p.Thr38Ile, XP_047286665.1:p.Thr38Asn, XP_047286665.1:p.Thr38Ser, XP_047286665.1:p.Thr38Ile, XP_047286667.1:p.Thr38Asn, XP_047286667.1:p.Thr38Ser, XP_047286667.1:p.Thr38Ile, XP_047286668.1:p.Thr38Asn, XP_047286668.1:p.Thr38Ser, XP_047286668.1:p.Thr38Ile, XP_047286669.1:p.Thr38Asn, XP_047286669.1:p.Thr38Ser, XP_047286669.1:p.Thr38Ile, XP_047286670.1:p.Thr38Asn, XP_047286670.1:p.Thr38Ser, XP_047286670.1:p.Thr38Ile

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