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1.

rs1490949970 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    6:70528315 (GRCh38)
    6:71238018 (GRCh37)
    Canonical SPDI:
    NC_000006.12:70528314:T:A
    Gene:
    FAM135A (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.70528315T>A, NC_000006.11:g.71238018T>A, NG_054903.1:g.119912T>A, NM_020819.5:c.2999T>A, NM_020819.4:c.2999T>A, NM_001330999.3:c.3716T>A, NM_001330999.2:c.3716T>A, NM_001330999.1:c.3716T>A, NM_001162529.3:c.3638T>A, NM_001162529.2:c.3638T>A, NM_001162529.1:c.3638T>A, NM_001330996.3:c.3716T>A, NM_001330996.2:c.3716T>A, NM_001330996.1:c.3716T>A, NM_001331004.3:c.2363T>A, NM_001331004.2:c.2363T>A, NM_001331004.1:c.2363T>A, NM_001331005.3:c.3539T>A, NM_001331005.2:c.3539T>A, NM_001331005.1:c.3539T>A, NM_001331003.3:c.3128T>A, NM_001331003.2:c.3128T>A, NM_001331003.1:c.3128T>A, NM_001330998.3:c.3128T>A, NM_001330998.2:c.3128T>A, NM_001330998.1:c.3128T>A, NM_001331002.3:c.3050T>A, NM_001331002.2:c.3050T>A, NM_001331002.1:c.3050T>A, NM_001105531.3:c.3050T>A, NM_001105531.2:c.3050T>A, NM_001331001.3:c.3050T>A, NM_001331001.2:c.3050T>A, NM_001331001.1:c.3050T>A, NM_001330997.3:c.3050T>A, NM_001330997.2:c.3050T>A, NM_001330997.1:c.3050T>A, NM_001331000.3:c.2951T>A, NM_001331000.2:c.2951T>A, NM_001331000.1:c.2951T>A, NM_001331006.3:c.2456T>A, NM_001331006.2:c.2456T>A, NM_001331006.1:c.2456T>A, NM_001330995.3:c.2378T>A, NM_001330995.2:c.2378T>A, NM_001330995.1:c.2378T>A, NM_001351607.2:c.3638T>A, NM_001351607.1:c.3638T>A, NM_001351602.2:c.3638T>A, NM_001351602.1:c.3638T>A, NM_001351599.2:c.3716T>A, NM_001351599.1:c.3716T>A, NM_001351600.2:c.3638T>A, NM_001351600.1:c.3638T>A, NM_001351608.2:c.2792T>A, NM_001351608.1:c.2792T>A, NM_001351609.2:c.2198T>A, NM_001351609.1:c.2198T>A, XM_011535995.4:c.3716T>A, XM_011535995.3:c.3716T>A, XM_011535995.2:c.3716T>A, XM_011535995.1:c.3716T>A, XM_011535994.3:c.3716T>A, XM_011535994.2:c.3716T>A, XM_011535994.1:c.3716T>A, XM_011535996.3:c.3716T>A, XM_011535996.2:c.3716T>A, XM_011535996.1:c.3716T>A, XM_011535997.3:c.3617T>A, XM_011535997.2:c.3617T>A, XM_011535997.1:c.3617T>A, XM_017011127.2:c.3638T>A, XM_017011127.1:c.3638T>A, XM_005248749.2:c.3044T>A, XM_005248749.1:c.3044T>A, XM_047419158.1:c.3716T>A, XM_047419165.1:c.3128T>A, XM_047419159.1:c.3638T>A, XM_047419160.1:c.3638T>A, XM_047419169.1:c.2456T>A, XM_047419175.1:c.2378T>A, XM_047419162.1:c.3128T>A, XM_047419163.1:c.3128T>A, XM_047419167.1:c.3050T>A, XM_047419166.1:c.3050T>A, XM_047419161.1:c.3128T>A, XM_047419164.1:c.3128T>A, XM_047419168.1:c.2966T>A, XM_047419171.1:c.2456T>A, XM_047419173.1:c.2456T>A, XM_047419172.1:c.2456T>A, XM_047419180.1:c.2378T>A, XM_047419176.1:c.2378T>A, XM_047419179.1:c.2378T>A, XM_047419170.1:c.2456T>A, XM_047419174.1:c.2456T>A, XM_047419177.1:c.2378T>A, XM_047419178.1:c.2378T>A, NP_065870.3:p.Leu1000Gln, NP_001317928.1:p.Leu1239Gln, NP_001156001.1:p.Leu1213Gln, NP_001317925.1:p.Leu1239Gln, NP_001317933.1:p.Leu788Gln, NP_001317934.1:p.Leu1180Gln, NP_001317932.1:p.Leu1043Gln, NP_001317927.1:p.Leu1043Gln, NP_001317931.1:p.Leu1017Gln, NP_001099001.1:p.Leu1017Gln, NP_001317930.1:p.Leu1017Gln, NP_001317926.1:p.Leu1017Gln, NP_001317929.1:p.Leu984Gln, NP_001317935.1:p.Leu819Gln, NP_001317924.1:p.Leu793Gln, NP_001338536.1:p.Leu1213Gln, NP_001338531.1:p.Leu1213Gln, NP_001338528.1:p.Leu1239Gln, NP_001338529.1:p.Leu1213Gln, NP_001338537.1:p.Leu931Gln, NP_001338538.1:p.Leu733Gln, XP_011534297.1:p.Leu1239Gln, XP_011534296.1:p.Leu1239Gln, XP_011534298.1:p.Leu1239Gln, XP_011534299.1:p.Leu1206Gln, XP_016866616.1:p.Leu1213Gln, XP_005248806.1:p.Leu1015Gln, XP_047275114.1:p.Leu1239Gln, XP_047275121.1:p.Leu1043Gln, XP_047275115.1:p.Leu1213Gln, XP_047275116.1:p.Leu1213Gln, XP_047275125.1:p.Leu819Gln, XP_047275131.1:p.Leu793Gln, XP_047275118.1:p.Leu1043Gln, XP_047275119.1:p.Leu1043Gln, XP_047275123.1:p.Leu1017Gln, XP_047275122.1:p.Leu1017Gln, XP_047275117.1:p.Leu1043Gln, XP_047275120.1:p.Leu1043Gln, XP_047275124.1:p.Leu989Gln, XP_047275127.1:p.Leu819Gln, XP_047275129.1:p.Leu819Gln, XP_047275128.1:p.Leu819Gln, XP_047275136.1:p.Leu793Gln, XP_047275132.1:p.Leu793Gln, XP_047275135.1:p.Leu793Gln, XP_047275126.1:p.Leu819Gln, XP_047275130.1:p.Leu819Gln, XP_047275133.1:p.Leu793Gln, XP_047275134.1:p.Leu793Gln

    2.

    rs1490924785 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:70526009 (GRCh38)
      6:71235712 (GRCh37)
      Canonical SPDI:
      NC_000006.12:70526008:C:T
      Gene:
      FAM135A (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000014/2 (GnomAD)
      T=0.000026/7 (TOPMED)
      HGVS:
      NC_000006.12:g.70526009C>T, NC_000006.11:g.71235712C>T, NG_054903.1:g.117606C>T, NM_020819.5:c.2286C>T, NM_020819.4:c.2286C>T, NM_001330999.3:c.3003C>T, NM_001330999.2:c.3003C>T, NM_001330999.1:c.3003C>T, NM_001162529.3:c.2925C>T, NM_001162529.2:c.2925C>T, NM_001162529.1:c.2925C>T, NM_001330996.3:c.3003C>T, NM_001330996.2:c.3003C>T, NM_001330996.1:c.3003C>T, NM_001331004.3:c.1650C>T, NM_001331004.2:c.1650C>T, NM_001331004.1:c.1650C>T, NM_001331005.3:c.2826C>T, NM_001331005.2:c.2826C>T, NM_001331005.1:c.2826C>T, NM_001331003.3:c.2415C>T, NM_001331003.2:c.2415C>T, NM_001331003.1:c.2415C>T, NM_001330998.3:c.2415C>T, NM_001330998.2:c.2415C>T, NM_001330998.1:c.2415C>T, NM_001331002.3:c.2337C>T, NM_001331002.2:c.2337C>T, NM_001331002.1:c.2337C>T, NM_001105531.3:c.2337C>T, NM_001105531.2:c.2337C>T, NM_001331001.3:c.2337C>T, NM_001331001.2:c.2337C>T, NM_001331001.1:c.2337C>T, NM_001330997.3:c.2337C>T, NM_001330997.2:c.2337C>T, NM_001330997.1:c.2337C>T, NM_001331000.3:c.2238C>T, NM_001331000.2:c.2238C>T, NM_001331000.1:c.2238C>T, NM_001331006.3:c.1743C>T, NM_001331006.2:c.1743C>T, NM_001331006.1:c.1743C>T, NM_001330995.3:c.1665C>T, NM_001330995.2:c.1665C>T, NM_001330995.1:c.1665C>T, NM_001351607.2:c.2925C>T, NM_001351607.1:c.2925C>T, NM_001351602.2:c.2925C>T, NM_001351602.1:c.2925C>T, NM_001351599.2:c.3003C>T, NM_001351599.1:c.3003C>T, NM_001351600.2:c.2925C>T, NM_001351600.1:c.2925C>T, NM_001351608.2:c.2079C>T, NM_001351608.1:c.2079C>T, NM_001351609.2:c.1485C>T, NM_001351609.1:c.1485C>T, XM_011535995.4:c.3003C>T, XM_011535995.3:c.3003C>T, XM_011535995.2:c.3003C>T, XM_011535995.1:c.3003C>T, XM_011535994.3:c.3003C>T, XM_011535994.2:c.3003C>T, XM_011535994.1:c.3003C>T, XM_011535996.3:c.3003C>T, XM_011535996.2:c.3003C>T, XM_011535996.1:c.3003C>T, XM_011535997.3:c.2904C>T, XM_011535997.2:c.2904C>T, XM_011535997.1:c.2904C>T, XM_017011127.2:c.2925C>T, XM_017011127.1:c.2925C>T, XM_005248749.2:c.2331C>T, XM_005248749.1:c.2331C>T, XM_047419158.1:c.3003C>T, XM_047419165.1:c.2415C>T, XM_047419159.1:c.2925C>T, XM_047419160.1:c.2925C>T, XM_047419169.1:c.1743C>T, XM_047419175.1:c.1665C>T, XM_047419162.1:c.2415C>T, XM_047419163.1:c.2415C>T, XM_047419167.1:c.2337C>T, XM_047419166.1:c.2337C>T, XM_047419161.1:c.2415C>T, XM_047419164.1:c.2415C>T, XM_047419168.1:c.2253C>T, XM_047419171.1:c.1743C>T, XM_047419173.1:c.1743C>T, XM_047419172.1:c.1743C>T, XM_047419180.1:c.1665C>T, XM_047419176.1:c.1665C>T, XM_047419179.1:c.1665C>T, XM_047419170.1:c.1743C>T, XM_047419174.1:c.1743C>T, XM_047419177.1:c.1665C>T, XM_047419178.1:c.1665C>T

      3.

      rs1490460993 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:70526453 (GRCh38)
        6:71236156 (GRCh37)
        Canonical SPDI:
        NC_000006.12:70526452:G:A
        Gene:
        FAM135A (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        HGVS:
        NC_000006.12:g.70526453G>A, NC_000006.11:g.71236156G>A, NG_054903.1:g.118050G>A, NM_020819.5:c.2730G>A, NM_020819.4:c.2730G>A, NM_001330999.3:c.3447G>A, NM_001330999.2:c.3447G>A, NM_001330999.1:c.3447G>A, NM_001162529.3:c.3369G>A, NM_001162529.2:c.3369G>A, NM_001162529.1:c.3369G>A, NM_001330996.3:c.3447G>A, NM_001330996.2:c.3447G>A, NM_001330996.1:c.3447G>A, NM_001331004.3:c.2094G>A, NM_001331004.2:c.2094G>A, NM_001331004.1:c.2094G>A, NM_001331005.3:c.3270G>A, NM_001331005.2:c.3270G>A, NM_001331005.1:c.3270G>A, NM_001331003.3:c.2859G>A, NM_001331003.2:c.2859G>A, NM_001331003.1:c.2859G>A, NM_001330998.3:c.2859G>A, NM_001330998.2:c.2859G>A, NM_001330998.1:c.2859G>A, NM_001331002.3:c.2781G>A, NM_001331002.2:c.2781G>A, NM_001331002.1:c.2781G>A, NM_001105531.3:c.2781G>A, NM_001105531.2:c.2781G>A, NM_001331001.3:c.2781G>A, NM_001331001.2:c.2781G>A, NM_001331001.1:c.2781G>A, NM_001330997.3:c.2781G>A, NM_001330997.2:c.2781G>A, NM_001330997.1:c.2781G>A, NM_001331000.3:c.2682G>A, NM_001331000.2:c.2682G>A, NM_001331000.1:c.2682G>A, NM_001331006.3:c.2187G>A, NM_001331006.2:c.2187G>A, NM_001331006.1:c.2187G>A, NM_001330995.3:c.2109G>A, NM_001330995.2:c.2109G>A, NM_001330995.1:c.2109G>A, NM_001351607.2:c.3369G>A, NM_001351607.1:c.3369G>A, NM_001351602.2:c.3369G>A, NM_001351602.1:c.3369G>A, NM_001351599.2:c.3447G>A, NM_001351599.1:c.3447G>A, NM_001351600.2:c.3369G>A, NM_001351600.1:c.3369G>A, NM_001351608.2:c.2523G>A, NM_001351608.1:c.2523G>A, NM_001351609.2:c.1929G>A, NM_001351609.1:c.1929G>A, XM_011535995.4:c.3447G>A, XM_011535995.3:c.3447G>A, XM_011535995.2:c.3447G>A, XM_011535995.1:c.3447G>A, XM_011535994.3:c.3447G>A, XM_011535994.2:c.3447G>A, XM_011535994.1:c.3447G>A, XM_011535996.3:c.3447G>A, XM_011535996.2:c.3447G>A, XM_011535996.1:c.3447G>A, XM_011535997.3:c.3348G>A, XM_011535997.2:c.3348G>A, XM_011535997.1:c.3348G>A, XM_017011127.2:c.3369G>A, XM_017011127.1:c.3369G>A, XM_005248749.2:c.2775G>A, XM_005248749.1:c.2775G>A, XM_047419158.1:c.3447G>A, XM_047419165.1:c.2859G>A, XM_047419159.1:c.3369G>A, XM_047419160.1:c.3369G>A, XM_047419169.1:c.2187G>A, XM_047419175.1:c.2109G>A, XM_047419162.1:c.2859G>A, XM_047419163.1:c.2859G>A, XM_047419167.1:c.2781G>A, XM_047419166.1:c.2781G>A, XM_047419161.1:c.2859G>A, XM_047419164.1:c.2859G>A, XM_047419168.1:c.2697G>A, XM_047419171.1:c.2187G>A, XM_047419173.1:c.2187G>A, XM_047419172.1:c.2187G>A, XM_047419180.1:c.2109G>A, XM_047419176.1:c.2109G>A, XM_047419179.1:c.2109G>A, XM_047419170.1:c.2187G>A, XM_047419174.1:c.2187G>A, XM_047419177.1:c.2109G>A, XM_047419178.1:c.2109G>A, NP_065870.3:p.Met910Ile, NP_001317928.1:p.Met1149Ile, NP_001156001.1:p.Met1123Ile, NP_001317925.1:p.Met1149Ile, NP_001317933.1:p.Met698Ile, NP_001317934.1:p.Met1090Ile, NP_001317932.1:p.Met953Ile, NP_001317927.1:p.Met953Ile, NP_001317931.1:p.Met927Ile, NP_001099001.1:p.Met927Ile, NP_001317930.1:p.Met927Ile, NP_001317926.1:p.Met927Ile, NP_001317929.1:p.Met894Ile, NP_001317935.1:p.Met729Ile, NP_001317924.1:p.Met703Ile, NP_001338536.1:p.Met1123Ile, NP_001338531.1:p.Met1123Ile, NP_001338528.1:p.Met1149Ile, NP_001338529.1:p.Met1123Ile, NP_001338537.1:p.Met841Ile, NP_001338538.1:p.Met643Ile, XP_011534297.1:p.Met1149Ile, XP_011534296.1:p.Met1149Ile, XP_011534298.1:p.Met1149Ile, XP_011534299.1:p.Met1116Ile, XP_016866616.1:p.Met1123Ile, XP_005248806.1:p.Met925Ile, XP_047275114.1:p.Met1149Ile, XP_047275121.1:p.Met953Ile, XP_047275115.1:p.Met1123Ile, XP_047275116.1:p.Met1123Ile, XP_047275125.1:p.Met729Ile, XP_047275131.1:p.Met703Ile, XP_047275118.1:p.Met953Ile, XP_047275119.1:p.Met953Ile, XP_047275123.1:p.Met927Ile, XP_047275122.1:p.Met927Ile, XP_047275117.1:p.Met953Ile, XP_047275120.1:p.Met953Ile, XP_047275124.1:p.Met899Ile, XP_047275127.1:p.Met729Ile, XP_047275129.1:p.Met729Ile, XP_047275128.1:p.Met729Ile, XP_047275136.1:p.Met703Ile, XP_047275132.1:p.Met703Ile, XP_047275135.1:p.Met703Ile, XP_047275126.1:p.Met729Ile, XP_047275130.1:p.Met729Ile, XP_047275133.1:p.Met703Ile, XP_047275134.1:p.Met703Ile

        4.

        rs1490415864 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:70525747 (GRCh38)
          6:71235450 (GRCh37)
          Canonical SPDI:
          NC_000006.12:70525746:C:T
          Gene:
          FAM135A (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000447/2 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000446/2 (Estonian)
          HGVS:
          NC_000006.12:g.70525747C>T, NC_000006.11:g.71235450C>T, NG_054903.1:g.117344C>T, NM_020819.5:c.2024C>T, NM_020819.4:c.2024C>T, NM_001330999.3:c.2741C>T, NM_001330999.2:c.2741C>T, NM_001330999.1:c.2741C>T, NM_001162529.3:c.2663C>T, NM_001162529.2:c.2663C>T, NM_001162529.1:c.2663C>T, NM_001330996.3:c.2741C>T, NM_001330996.2:c.2741C>T, NM_001330996.1:c.2741C>T, NM_001331004.3:c.1388C>T, NM_001331004.2:c.1388C>T, NM_001331004.1:c.1388C>T, NM_001331005.3:c.2564C>T, NM_001331005.2:c.2564C>T, NM_001331005.1:c.2564C>T, NM_001331003.3:c.2153C>T, NM_001331003.2:c.2153C>T, NM_001331003.1:c.2153C>T, NM_001330998.3:c.2153C>T, NM_001330998.2:c.2153C>T, NM_001330998.1:c.2153C>T, NM_001331002.3:c.2075C>T, NM_001331002.2:c.2075C>T, NM_001331002.1:c.2075C>T, NM_001105531.3:c.2075C>T, NM_001105531.2:c.2075C>T, NM_001331001.3:c.2075C>T, NM_001331001.2:c.2075C>T, NM_001331001.1:c.2075C>T, NM_001330997.3:c.2075C>T, NM_001330997.2:c.2075C>T, NM_001330997.1:c.2075C>T, NM_001331000.3:c.1976C>T, NM_001331000.2:c.1976C>T, NM_001331000.1:c.1976C>T, NM_001351607.2:c.2663C>T, NM_001351607.1:c.2663C>T, NM_001351602.2:c.2663C>T, NM_001351602.1:c.2663C>T, NM_001351599.2:c.2741C>T, NM_001351599.1:c.2741C>T, NM_001351600.2:c.2663C>T, NM_001351600.1:c.2663C>T, NM_001351608.2:c.1817C>T, NM_001351608.1:c.1817C>T, XM_011535995.4:c.2741C>T, XM_011535995.3:c.2741C>T, XM_011535995.2:c.2741C>T, XM_011535995.1:c.2741C>T, XM_011535994.3:c.2741C>T, XM_011535994.2:c.2741C>T, XM_011535994.1:c.2741C>T, XM_011535996.3:c.2741C>T, XM_011535996.2:c.2741C>T, XM_011535996.1:c.2741C>T, XM_011535997.3:c.2642C>T, XM_011535997.2:c.2642C>T, XM_011535997.1:c.2642C>T, XM_017011127.2:c.2663C>T, XM_017011127.1:c.2663C>T, XM_047419158.1:c.2741C>T, XM_047419165.1:c.2153C>T, XM_047419159.1:c.2663C>T, XM_047419160.1:c.2663C>T, XM_047419162.1:c.2153C>T, XM_047419163.1:c.2153C>T, XM_047419167.1:c.2075C>T, XM_047419166.1:c.2075C>T, XM_047419161.1:c.2153C>T, XM_047419164.1:c.2153C>T, NP_065870.3:p.Ser675Leu, NP_001317928.1:p.Ser914Leu, NP_001156001.1:p.Ser888Leu, NP_001317925.1:p.Ser914Leu, NP_001317933.1:p.Ser463Leu, NP_001317934.1:p.Ser855Leu, NP_001317932.1:p.Ser718Leu, NP_001317927.1:p.Ser718Leu, NP_001317931.1:p.Ser692Leu, NP_001099001.1:p.Ser692Leu, NP_001317930.1:p.Ser692Leu, NP_001317926.1:p.Ser692Leu, NP_001317929.1:p.Ser659Leu, NP_001338536.1:p.Ser888Leu, NP_001338531.1:p.Ser888Leu, NP_001338528.1:p.Ser914Leu, NP_001338529.1:p.Ser888Leu, NP_001338537.1:p.Ser606Leu, XP_011534297.1:p.Ser914Leu, XP_011534296.1:p.Ser914Leu, XP_011534298.1:p.Ser914Leu, XP_011534299.1:p.Ser881Leu, XP_016866616.1:p.Ser888Leu, XP_047275114.1:p.Ser914Leu, XP_047275121.1:p.Ser718Leu, XP_047275115.1:p.Ser888Leu, XP_047275116.1:p.Ser888Leu, XP_047275118.1:p.Ser718Leu, XP_047275119.1:p.Ser718Leu, XP_047275123.1:p.Ser692Leu, XP_047275122.1:p.Ser692Leu, XP_047275117.1:p.Ser718Leu, XP_047275120.1:p.Ser718Leu

          5.

          rs1489924492 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:70536396 (GRCh38)
            6:71246099 (GRCh37)
            Canonical SPDI:
            NC_000006.12:70536395:G:A
            Gene:
            FAM135A (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            NC_000006.12:g.70536396G>A, NC_000006.11:g.71246099G>A, NG_054903.1:g.127993G>A, NM_020819.5:c.3463G>A, NM_020819.4:c.3463G>A, NM_001330999.3:c.4180G>A, NM_001330999.2:c.4180G>A, NM_001330999.1:c.4180G>A, NM_001162529.3:c.4102G>A, NM_001162529.2:c.4102G>A, NM_001162529.1:c.4102G>A, NM_001330996.3:c.4180G>A, NM_001330996.2:c.4180G>A, NM_001330996.1:c.4180G>A, NM_001331004.3:c.2827G>A, NM_001331004.2:c.2827G>A, NM_001331004.1:c.2827G>A, NM_001331005.3:c.4003G>A, NM_001331005.2:c.4003G>A, NM_001331005.1:c.4003G>A, NM_001331003.3:c.3592G>A, NM_001331003.2:c.3592G>A, NM_001331003.1:c.3592G>A, NM_001330998.3:c.3592G>A, NM_001330998.2:c.3592G>A, NM_001330998.1:c.3592G>A, NM_001331002.3:c.3514G>A, NM_001331002.2:c.3514G>A, NM_001331002.1:c.3514G>A, NM_001105531.3:c.3514G>A, NM_001105531.2:c.3514G>A, NM_001331001.3:c.3514G>A, NM_001331001.2:c.3514G>A, NM_001331001.1:c.3514G>A, NM_001330997.3:c.3514G>A, NM_001330997.2:c.3514G>A, NM_001330997.1:c.3514G>A, NM_001331000.3:c.3415G>A, NM_001331000.2:c.3415G>A, NM_001331000.1:c.3415G>A, NM_001331006.3:c.2920G>A, NM_001331006.2:c.2920G>A, NM_001331006.1:c.2920G>A, NM_001330995.3:c.2842G>A, NM_001330995.2:c.2842G>A, NM_001330995.1:c.2842G>A, NM_001351607.2:c.4102G>A, NM_001351607.1:c.4102G>A, NM_001351602.2:c.4102G>A, NM_001351602.1:c.4102G>A, NM_001351599.2:c.4180G>A, NM_001351599.1:c.4180G>A, NM_001351600.2:c.4102G>A, NM_001351600.1:c.4102G>A, NM_001351608.2:c.3256G>A, NM_001351608.1:c.3256G>A, NM_001351609.2:c.2662G>A, NM_001351609.1:c.2662G>A, XM_011535995.4:c.4180G>A, XM_011535995.3:c.4180G>A, XM_011535995.2:c.4180G>A, XM_011535995.1:c.4180G>A, XM_011535994.3:c.4180G>A, XM_011535994.2:c.4180G>A, XM_011535994.1:c.4180G>A, XM_011535996.3:c.4180G>A, XM_011535996.2:c.4180G>A, XM_011535996.1:c.4180G>A, XM_011535997.3:c.4081G>A, XM_011535997.2:c.4081G>A, XM_011535997.1:c.4081G>A, XM_017011127.2:c.4102G>A, XM_017011127.1:c.4102G>A, XM_005248749.2:c.3508G>A, XM_005248749.1:c.3508G>A, XM_047419158.1:c.4180G>A, XM_047419165.1:c.3592G>A, XM_047419159.1:c.4102G>A, XM_047419160.1:c.4102G>A, XM_047419169.1:c.2920G>A, XM_047419175.1:c.2842G>A, XM_047419162.1:c.3592G>A, XM_047419163.1:c.3592G>A, XM_047419167.1:c.3514G>A, XM_047419166.1:c.3514G>A, XM_047419161.1:c.3592G>A, XM_047419164.1:c.3592G>A, XM_047419168.1:c.3430G>A, XM_047419171.1:c.2920G>A, XM_047419173.1:c.2920G>A, XM_047419172.1:c.2920G>A, XM_047419180.1:c.2842G>A, XM_047419176.1:c.2842G>A, XM_047419179.1:c.2842G>A, XM_047419170.1:c.2920G>A, XM_047419174.1:c.2920G>A, XM_047419177.1:c.2842G>A, XM_047419178.1:c.2842G>A, NP_065870.3:p.Ala1155Thr, NP_001317928.1:p.Ala1394Thr, NP_001156001.1:p.Ala1368Thr, NP_001317925.1:p.Ala1394Thr, NP_001317933.1:p.Ala943Thr, NP_001317934.1:p.Ala1335Thr, NP_001317932.1:p.Ala1198Thr, NP_001317927.1:p.Ala1198Thr, NP_001317931.1:p.Ala1172Thr, NP_001099001.1:p.Ala1172Thr, NP_001317930.1:p.Ala1172Thr, NP_001317926.1:p.Ala1172Thr, NP_001317929.1:p.Ala1139Thr, NP_001317935.1:p.Ala974Thr, NP_001317924.1:p.Ala948Thr, NP_001338536.1:p.Ala1368Thr, NP_001338531.1:p.Ala1368Thr, NP_001338528.1:p.Ala1394Thr, NP_001338529.1:p.Ala1368Thr, NP_001338537.1:p.Ala1086Thr, NP_001338538.1:p.Ala888Thr, XP_011534297.1:p.Ala1394Thr, XP_011534296.1:p.Ala1394Thr, XP_011534298.1:p.Ala1394Thr, XP_011534299.1:p.Ala1361Thr, XP_016866616.1:p.Ala1368Thr, XP_005248806.1:p.Ala1170Thr, XP_047275114.1:p.Ala1394Thr, XP_047275121.1:p.Ala1198Thr, XP_047275115.1:p.Ala1368Thr, XP_047275116.1:p.Ala1368Thr, XP_047275125.1:p.Ala974Thr, XP_047275131.1:p.Ala948Thr, XP_047275118.1:p.Ala1198Thr, XP_047275119.1:p.Ala1198Thr, XP_047275123.1:p.Ala1172Thr, XP_047275122.1:p.Ala1172Thr, XP_047275117.1:p.Ala1198Thr, XP_047275120.1:p.Ala1198Thr, XP_047275124.1:p.Ala1144Thr, XP_047275127.1:p.Ala974Thr, XP_047275129.1:p.Ala974Thr, XP_047275128.1:p.Ala974Thr, XP_047275136.1:p.Ala948Thr, XP_047275132.1:p.Ala948Thr, XP_047275135.1:p.Ala948Thr, XP_047275126.1:p.Ala974Thr, XP_047275130.1:p.Ala974Thr, XP_047275133.1:p.Ala948Thr, XP_047275134.1:p.Ala948Thr

            6.

            rs1489167852 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:70525722 (GRCh38)
              6:71235425 (GRCh37)
              Canonical SPDI:
              NC_000006.12:70525721:C:T
              Gene:
              FAM135A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000028/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000006.12:g.70525722C>T, NC_000006.11:g.71235425C>T, NG_054903.1:g.117319C>T, NM_020819.5:c.1999C>T, NM_020819.4:c.1999C>T, NM_001330999.3:c.2716C>T, NM_001330999.2:c.2716C>T, NM_001330999.1:c.2716C>T, NM_001162529.3:c.2638C>T, NM_001162529.2:c.2638C>T, NM_001162529.1:c.2638C>T, NM_001330996.3:c.2716C>T, NM_001330996.2:c.2716C>T, NM_001330996.1:c.2716C>T, NM_001331004.3:c.1363C>T, NM_001331004.2:c.1363C>T, NM_001331004.1:c.1363C>T, NM_001331005.3:c.2539C>T, NM_001331005.2:c.2539C>T, NM_001331005.1:c.2539C>T, NM_001331003.3:c.2128C>T, NM_001331003.2:c.2128C>T, NM_001331003.1:c.2128C>T, NM_001330998.3:c.2128C>T, NM_001330998.2:c.2128C>T, NM_001330998.1:c.2128C>T, NM_001331002.3:c.2050C>T, NM_001331002.2:c.2050C>T, NM_001331002.1:c.2050C>T, NM_001105531.3:c.2050C>T, NM_001105531.2:c.2050C>T, NM_001331001.3:c.2050C>T, NM_001331001.2:c.2050C>T, NM_001331001.1:c.2050C>T, NM_001330997.3:c.2050C>T, NM_001330997.2:c.2050C>T, NM_001330997.1:c.2050C>T, NM_001331000.3:c.1951C>T, NM_001331000.2:c.1951C>T, NM_001331000.1:c.1951C>T, NM_001351607.2:c.2638C>T, NM_001351607.1:c.2638C>T, NM_001351602.2:c.2638C>T, NM_001351602.1:c.2638C>T, NM_001351599.2:c.2716C>T, NM_001351599.1:c.2716C>T, NM_001351600.2:c.2638C>T, NM_001351600.1:c.2638C>T, NM_001351608.2:c.1792C>T, NM_001351608.1:c.1792C>T, XM_011535995.4:c.2716C>T, XM_011535995.3:c.2716C>T, XM_011535995.2:c.2716C>T, XM_011535995.1:c.2716C>T, XM_011535994.3:c.2716C>T, XM_011535994.2:c.2716C>T, XM_011535994.1:c.2716C>T, XM_011535996.3:c.2716C>T, XM_011535996.2:c.2716C>T, XM_011535996.1:c.2716C>T, XM_011535997.3:c.2617C>T, XM_011535997.2:c.2617C>T, XM_011535997.1:c.2617C>T, XM_017011127.2:c.2638C>T, XM_017011127.1:c.2638C>T, XM_047419158.1:c.2716C>T, XM_047419165.1:c.2128C>T, XM_047419159.1:c.2638C>T, XM_047419160.1:c.2638C>T, XM_047419162.1:c.2128C>T, XM_047419163.1:c.2128C>T, XM_047419167.1:c.2050C>T, XM_047419166.1:c.2050C>T, XM_047419161.1:c.2128C>T, XM_047419164.1:c.2128C>T, NP_065870.3:p.Pro667Ser, NP_001317928.1:p.Pro906Ser, NP_001156001.1:p.Pro880Ser, NP_001317925.1:p.Pro906Ser, NP_001317933.1:p.Pro455Ser, NP_001317934.1:p.Pro847Ser, NP_001317932.1:p.Pro710Ser, NP_001317927.1:p.Pro710Ser, NP_001317931.1:p.Pro684Ser, NP_001099001.1:p.Pro684Ser, NP_001317930.1:p.Pro684Ser, NP_001317926.1:p.Pro684Ser, NP_001317929.1:p.Pro651Ser, NP_001338536.1:p.Pro880Ser, NP_001338531.1:p.Pro880Ser, NP_001338528.1:p.Pro906Ser, NP_001338529.1:p.Pro880Ser, NP_001338537.1:p.Pro598Ser, XP_011534297.1:p.Pro906Ser, XP_011534296.1:p.Pro906Ser, XP_011534298.1:p.Pro906Ser, XP_011534299.1:p.Pro873Ser, XP_016866616.1:p.Pro880Ser, XP_047275114.1:p.Pro906Ser, XP_047275121.1:p.Pro710Ser, XP_047275115.1:p.Pro880Ser, XP_047275116.1:p.Pro880Ser, XP_047275118.1:p.Pro710Ser, XP_047275119.1:p.Pro710Ser, XP_047275123.1:p.Pro684Ser, XP_047275122.1:p.Pro684Ser, XP_047275117.1:p.Pro710Ser, XP_047275120.1:p.Pro710Ser

              7.

              rs1488218539 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:70502640 (GRCh38)
                6:71212343 (GRCh37)
                Canonical SPDI:
                NC_000006.12:70502639:T:C
                Gene:
                FAM135A (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.70502640T>C, NC_000006.11:g.71212343T>C, NG_054903.1:g.94237T>C, NM_020819.5:c.827T>C, NM_020819.4:c.827T>C, NM_001330999.3:c.956T>C, NM_001330999.2:c.956T>C, NM_001330999.1:c.956T>C, NM_001162529.3:c.878T>C, NM_001162529.2:c.878T>C, NM_001162529.1:c.878T>C, NM_001330996.3:c.956T>C, NM_001330996.2:c.956T>C, NM_001330996.1:c.956T>C, NM_001331004.3:c.-243T>C, NM_001331004.2:c.-243T>C, NM_001331004.1:c.-243T>C, NM_001331005.3:c.779T>C, NM_001331005.2:c.779T>C, NM_001331005.1:c.779T>C, NM_001331003.3:c.956T>C, NM_001331003.2:c.956T>C, NM_001331003.1:c.956T>C, NM_001330998.3:c.956T>C, NM_001330998.2:c.956T>C, NM_001330998.1:c.956T>C, NM_001331002.3:c.878T>C, NM_001331002.2:c.878T>C, NM_001331002.1:c.878T>C, NM_001105531.3:c.878T>C, NM_001105531.2:c.878T>C, NM_001331001.3:c.878T>C, NM_001331001.2:c.878T>C, NM_001331001.1:c.878T>C, NM_001330997.3:c.878T>C, NM_001330997.2:c.878T>C, NM_001330997.1:c.878T>C, NM_001331000.3:c.779T>C, NM_001331000.2:c.779T>C, NM_001331000.1:c.779T>C, NM_001331006.3:c.956T>C, NM_001331006.2:c.956T>C, NM_001331006.1:c.956T>C, NM_001330995.3:c.878T>C, NM_001330995.2:c.878T>C, NM_001330995.1:c.878T>C, NM_001351607.2:c.878T>C, NM_001351607.1:c.878T>C, NM_001351602.2:c.878T>C, NM_001351602.1:c.878T>C, NM_001351599.2:c.956T>C, NM_001351599.1:c.956T>C, NM_001351600.2:c.878T>C, NM_001351600.1:c.878T>C, NM_001351608.2:c.620T>C, NM_001351608.1:c.620T>C, NM_001351609.2:c.698T>C, NM_001351609.1:c.698T>C, XM_011535995.4:c.956T>C, XM_011535995.3:c.956T>C, XM_011535995.2:c.956T>C, XM_011535995.1:c.956T>C, XM_011535994.3:c.956T>C, XM_011535994.2:c.956T>C, XM_011535994.1:c.956T>C, XM_011535996.3:c.956T>C, XM_011535996.2:c.956T>C, XM_011535996.1:c.956T>C, XM_011535997.3:c.857T>C, XM_011535997.2:c.857T>C, XM_011535997.1:c.857T>C, XM_017011127.2:c.878T>C, XM_017011127.1:c.878T>C, XM_005248749.2:c.956T>C, XM_005248749.1:c.956T>C, XM_047419158.1:c.956T>C, XM_047419165.1:c.956T>C, XM_047419159.1:c.878T>C, XM_047419160.1:c.878T>C, XM_047419169.1:c.956T>C, XM_047419175.1:c.878T>C, XM_047419162.1:c.956T>C, XM_047419163.1:c.956T>C, XM_047419167.1:c.878T>C, XM_047419166.1:c.878T>C, XM_047419161.1:c.956T>C, XM_047419164.1:c.956T>C, XM_047419168.1:c.878T>C, XM_047419171.1:c.956T>C, XM_047419173.1:c.956T>C, XM_047419172.1:c.956T>C, XM_047419180.1:c.878T>C, XM_047419176.1:c.878T>C, XM_047419179.1:c.878T>C, XM_047419170.1:c.956T>C, XM_047419174.1:c.956T>C, XM_047419177.1:c.878T>C, XM_047419178.1:c.878T>C, NP_065870.3:p.Ile276Thr, NP_001317928.1:p.Ile319Thr, NP_001156001.1:p.Ile293Thr, NP_001317925.1:p.Ile319Thr, NP_001317934.1:p.Ile260Thr, NP_001317932.1:p.Ile319Thr, NP_001317927.1:p.Ile319Thr, NP_001317931.1:p.Ile293Thr, NP_001099001.1:p.Ile293Thr, NP_001317930.1:p.Ile293Thr, NP_001317926.1:p.Ile293Thr, NP_001317929.1:p.Ile260Thr, NP_001317935.1:p.Ile319Thr, NP_001317924.1:p.Ile293Thr, NP_001338536.1:p.Ile293Thr, NP_001338531.1:p.Ile293Thr, NP_001338528.1:p.Ile319Thr, NP_001338529.1:p.Ile293Thr, NP_001338537.1:p.Ile207Thr, NP_001338538.1:p.Ile233Thr, XP_011534297.1:p.Ile319Thr, XP_011534296.1:p.Ile319Thr, XP_011534298.1:p.Ile319Thr, XP_011534299.1:p.Ile286Thr, XP_016866616.1:p.Ile293Thr, XP_005248806.1:p.Ile319Thr, XP_047275114.1:p.Ile319Thr, XP_047275121.1:p.Ile319Thr, XP_047275115.1:p.Ile293Thr, XP_047275116.1:p.Ile293Thr, XP_047275125.1:p.Ile319Thr, XP_047275131.1:p.Ile293Thr, XP_047275118.1:p.Ile319Thr, XP_047275119.1:p.Ile319Thr, XP_047275123.1:p.Ile293Thr, XP_047275122.1:p.Ile293Thr, XP_047275117.1:p.Ile319Thr, XP_047275120.1:p.Ile319Thr, XP_047275124.1:p.Ile293Thr, XP_047275127.1:p.Ile319Thr, XP_047275129.1:p.Ile319Thr, XP_047275128.1:p.Ile319Thr, XP_047275136.1:p.Ile293Thr, XP_047275132.1:p.Ile293Thr, XP_047275135.1:p.Ile293Thr, XP_047275126.1:p.Ile319Thr, XP_047275130.1:p.Ile319Thr, XP_047275133.1:p.Ile293Thr, XP_047275134.1:p.Ile293Thr

                8.

                rs1486913148 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  6:70536331 (GRCh38)
                  6:71246034 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:70536330:T:G
                  Gene:
                  FAM135A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000224/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  NC_000006.12:g.70536331T>G, NC_000006.11:g.71246034T>G, NG_054903.1:g.127928T>G, NM_020819.5:c.3398T>G, NM_020819.4:c.3398T>G, NM_001330999.3:c.4115T>G, NM_001330999.2:c.4115T>G, NM_001330999.1:c.4115T>G, NM_001162529.3:c.4037T>G, NM_001162529.2:c.4037T>G, NM_001162529.1:c.4037T>G, NM_001330996.3:c.4115T>G, NM_001330996.2:c.4115T>G, NM_001330996.1:c.4115T>G, NM_001331004.3:c.2762T>G, NM_001331004.2:c.2762T>G, NM_001331004.1:c.2762T>G, NM_001331005.3:c.3938T>G, NM_001331005.2:c.3938T>G, NM_001331005.1:c.3938T>G, NM_001331003.3:c.3527T>G, NM_001331003.2:c.3527T>G, NM_001331003.1:c.3527T>G, NM_001330998.3:c.3527T>G, NM_001330998.2:c.3527T>G, NM_001330998.1:c.3527T>G, NM_001331002.3:c.3449T>G, NM_001331002.2:c.3449T>G, NM_001331002.1:c.3449T>G, NM_001105531.3:c.3449T>G, NM_001105531.2:c.3449T>G, NM_001331001.3:c.3449T>G, NM_001331001.2:c.3449T>G, NM_001331001.1:c.3449T>G, NM_001330997.3:c.3449T>G, NM_001330997.2:c.3449T>G, NM_001330997.1:c.3449T>G, NM_001331000.3:c.3350T>G, NM_001331000.2:c.3350T>G, NM_001331000.1:c.3350T>G, NM_001331006.3:c.2855T>G, NM_001331006.2:c.2855T>G, NM_001331006.1:c.2855T>G, NM_001330995.3:c.2777T>G, NM_001330995.2:c.2777T>G, NM_001330995.1:c.2777T>G, NM_001351607.2:c.4037T>G, NM_001351607.1:c.4037T>G, NM_001351602.2:c.4037T>G, NM_001351602.1:c.4037T>G, NM_001351599.2:c.4115T>G, NM_001351599.1:c.4115T>G, NM_001351600.2:c.4037T>G, NM_001351600.1:c.4037T>G, NM_001351608.2:c.3191T>G, NM_001351608.1:c.3191T>G, NM_001351609.2:c.2597T>G, NM_001351609.1:c.2597T>G, XM_011535995.4:c.4115T>G, XM_011535995.3:c.4115T>G, XM_011535995.2:c.4115T>G, XM_011535995.1:c.4115T>G, XM_011535994.3:c.4115T>G, XM_011535994.2:c.4115T>G, XM_011535994.1:c.4115T>G, XM_011535996.3:c.4115T>G, XM_011535996.2:c.4115T>G, XM_011535996.1:c.4115T>G, XM_011535997.3:c.4016T>G, XM_011535997.2:c.4016T>G, XM_011535997.1:c.4016T>G, XM_017011127.2:c.4037T>G, XM_017011127.1:c.4037T>G, XM_005248749.2:c.3443T>G, XM_005248749.1:c.3443T>G, XM_047419158.1:c.4115T>G, XM_047419165.1:c.3527T>G, XM_047419159.1:c.4037T>G, XM_047419160.1:c.4037T>G, XM_047419169.1:c.2855T>G, XM_047419175.1:c.2777T>G, XM_047419162.1:c.3527T>G, XM_047419163.1:c.3527T>G, XM_047419167.1:c.3449T>G, XM_047419166.1:c.3449T>G, XM_047419161.1:c.3527T>G, XM_047419164.1:c.3527T>G, XM_047419168.1:c.3365T>G, XM_047419171.1:c.2855T>G, XM_047419173.1:c.2855T>G, XM_047419172.1:c.2855T>G, XM_047419180.1:c.2777T>G, XM_047419176.1:c.2777T>G, XM_047419179.1:c.2777T>G, XM_047419170.1:c.2855T>G, XM_047419174.1:c.2855T>G, XM_047419177.1:c.2777T>G, XM_047419178.1:c.2777T>G, NP_065870.3:p.Leu1133Arg, NP_001317928.1:p.Leu1372Arg, NP_001156001.1:p.Leu1346Arg, NP_001317925.1:p.Leu1372Arg, NP_001317933.1:p.Leu921Arg, NP_001317934.1:p.Leu1313Arg, NP_001317932.1:p.Leu1176Arg, NP_001317927.1:p.Leu1176Arg, NP_001317931.1:p.Leu1150Arg, NP_001099001.1:p.Leu1150Arg, NP_001317930.1:p.Leu1150Arg, NP_001317926.1:p.Leu1150Arg, NP_001317929.1:p.Leu1117Arg, NP_001317935.1:p.Leu952Arg, NP_001317924.1:p.Leu926Arg, NP_001338536.1:p.Leu1346Arg, NP_001338531.1:p.Leu1346Arg, NP_001338528.1:p.Leu1372Arg, NP_001338529.1:p.Leu1346Arg, NP_001338537.1:p.Leu1064Arg, NP_001338538.1:p.Leu866Arg, XP_011534297.1:p.Leu1372Arg, XP_011534296.1:p.Leu1372Arg, XP_011534298.1:p.Leu1372Arg, XP_011534299.1:p.Leu1339Arg, XP_016866616.1:p.Leu1346Arg, XP_005248806.1:p.Leu1148Arg, XP_047275114.1:p.Leu1372Arg, XP_047275121.1:p.Leu1176Arg, XP_047275115.1:p.Leu1346Arg, XP_047275116.1:p.Leu1346Arg, XP_047275125.1:p.Leu952Arg, XP_047275131.1:p.Leu926Arg, XP_047275118.1:p.Leu1176Arg, XP_047275119.1:p.Leu1176Arg, XP_047275123.1:p.Leu1150Arg, XP_047275122.1:p.Leu1150Arg, XP_047275117.1:p.Leu1176Arg, XP_047275120.1:p.Leu1176Arg, XP_047275124.1:p.Leu1122Arg, XP_047275127.1:p.Leu952Arg, XP_047275129.1:p.Leu952Arg, XP_047275128.1:p.Leu952Arg, XP_047275136.1:p.Leu926Arg, XP_047275132.1:p.Leu926Arg, XP_047275135.1:p.Leu926Arg, XP_047275126.1:p.Leu952Arg, XP_047275130.1:p.Leu952Arg, XP_047275133.1:p.Leu926Arg, XP_047275134.1:p.Leu926Arg

                  9.

                  rs1485506496 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:70524088 (GRCh38)
                    6:71233791 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:70524087:T:C
                    Gene:
                    FAM135A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000006.12:g.70524088T>C, NC_000006.11:g.71233791T>C, NG_054903.1:g.115685T>C, NM_020819.5:c.1174T>C, NM_020819.4:c.1174T>C, NM_001330999.3:c.1303T>C, NM_001330999.2:c.1303T>C, NM_001330999.1:c.1303T>C, NM_001162529.3:c.1225T>C, NM_001162529.2:c.1225T>C, NM_001162529.1:c.1225T>C, NM_001330996.3:c.1303T>C, NM_001330996.2:c.1303T>C, NM_001330996.1:c.1303T>C, NM_001331005.3:c.1126T>C, NM_001331005.2:c.1126T>C, NM_001331005.1:c.1126T>C, NM_001331003.3:c.1303T>C, NM_001331003.2:c.1303T>C, NM_001331003.1:c.1303T>C, NM_001330998.3:c.1303T>C, NM_001330998.2:c.1303T>C, NM_001330998.1:c.1303T>C, NM_001331002.3:c.1225T>C, NM_001331002.2:c.1225T>C, NM_001331002.1:c.1225T>C, NM_001105531.3:c.1225T>C, NM_001105531.2:c.1225T>C, NM_001331001.3:c.1225T>C, NM_001331001.2:c.1225T>C, NM_001331001.1:c.1225T>C, NM_001330997.3:c.1225T>C, NM_001330997.2:c.1225T>C, NM_001330997.1:c.1225T>C, NM_001331000.3:c.1126T>C, NM_001331000.2:c.1126T>C, NM_001331000.1:c.1126T>C, NM_001331006.3:c.1303T>C, NM_001331006.2:c.1303T>C, NM_001331006.1:c.1303T>C, NM_001330995.3:c.1225T>C, NM_001330995.2:c.1225T>C, NM_001330995.1:c.1225T>C, NM_001351607.2:c.1225T>C, NM_001351607.1:c.1225T>C, NM_001351602.2:c.1225T>C, NM_001351602.1:c.1225T>C, NM_001351599.2:c.1303T>C, NM_001351599.1:c.1303T>C, NM_001351600.2:c.1225T>C, NM_001351600.1:c.1225T>C, NM_001351608.2:c.967T>C, NM_001351608.1:c.967T>C, NM_001351609.2:c.1045T>C, NM_001351609.1:c.1045T>C, XM_011535995.4:c.1303T>C, XM_011535995.3:c.1303T>C, XM_011535995.2:c.1303T>C, XM_011535995.1:c.1303T>C, XM_011535994.3:c.1303T>C, XM_011535994.2:c.1303T>C, XM_011535994.1:c.1303T>C, XM_011535996.3:c.1303T>C, XM_011535996.2:c.1303T>C, XM_011535996.1:c.1303T>C, XM_011535997.3:c.1204T>C, XM_011535997.2:c.1204T>C, XM_011535997.1:c.1204T>C, XM_017011127.2:c.1225T>C, XM_017011127.1:c.1225T>C, XM_005248749.2:c.1303T>C, XM_005248749.1:c.1303T>C, XM_047419158.1:c.1303T>C, XM_047419165.1:c.1303T>C, XM_047419159.1:c.1225T>C, XM_047419160.1:c.1225T>C, XM_047419169.1:c.1303T>C, XM_047419175.1:c.1225T>C, XM_047419162.1:c.1303T>C, XM_047419163.1:c.1303T>C, XM_047419167.1:c.1225T>C, XM_047419166.1:c.1225T>C, XM_047419161.1:c.1303T>C, XM_047419164.1:c.1303T>C, XM_047419168.1:c.1225T>C, XM_047419171.1:c.1303T>C, XM_047419173.1:c.1303T>C, XM_047419172.1:c.1303T>C, XM_047419180.1:c.1225T>C, XM_047419176.1:c.1225T>C, XM_047419179.1:c.1225T>C, XM_047419170.1:c.1303T>C, XM_047419174.1:c.1303T>C, XM_047419177.1:c.1225T>C, XM_047419178.1:c.1225T>C, NP_065870.3:p.Phe392Leu, NP_001317928.1:p.Phe435Leu, NP_001156001.1:p.Phe409Leu, NP_001317925.1:p.Phe435Leu, NP_001317934.1:p.Phe376Leu, NP_001317932.1:p.Phe435Leu, NP_001317927.1:p.Phe435Leu, NP_001317931.1:p.Phe409Leu, NP_001099001.1:p.Phe409Leu, NP_001317930.1:p.Phe409Leu, NP_001317926.1:p.Phe409Leu, NP_001317929.1:p.Phe376Leu, NP_001317935.1:p.Phe435Leu, NP_001317924.1:p.Phe409Leu, NP_001338536.1:p.Phe409Leu, NP_001338531.1:p.Phe409Leu, NP_001338528.1:p.Phe435Leu, NP_001338529.1:p.Phe409Leu, NP_001338537.1:p.Phe323Leu, NP_001338538.1:p.Phe349Leu, XP_011534297.1:p.Phe435Leu, XP_011534296.1:p.Phe435Leu, XP_011534298.1:p.Phe435Leu, XP_011534299.1:p.Phe402Leu, XP_016866616.1:p.Phe409Leu, XP_005248806.1:p.Phe435Leu, XP_047275114.1:p.Phe435Leu, XP_047275121.1:p.Phe435Leu, XP_047275115.1:p.Phe409Leu, XP_047275116.1:p.Phe409Leu, XP_047275125.1:p.Phe435Leu, XP_047275131.1:p.Phe409Leu, XP_047275118.1:p.Phe435Leu, XP_047275119.1:p.Phe435Leu, XP_047275123.1:p.Phe409Leu, XP_047275122.1:p.Phe409Leu, XP_047275117.1:p.Phe435Leu, XP_047275120.1:p.Phe435Leu, XP_047275124.1:p.Phe409Leu, XP_047275127.1:p.Phe435Leu, XP_047275129.1:p.Phe435Leu, XP_047275128.1:p.Phe435Leu, XP_047275136.1:p.Phe409Leu, XP_047275132.1:p.Phe409Leu, XP_047275135.1:p.Phe409Leu, XP_047275126.1:p.Phe435Leu, XP_047275130.1:p.Phe435Leu, XP_047275133.1:p.Phe409Leu, XP_047275134.1:p.Phe409Leu

                    10.

                    rs1485266089 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:70477299 (GRCh38)
                      6:71187002 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:70477298:C:T
                      Gene:
                      FAM135A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.70477299C>T, NC_000006.11:g.71187002C>T, NG_054903.1:g.68896C>T, NM_020819.5:c.380C>T, NM_020819.4:c.380C>T, NM_001330999.3:c.509C>T, NM_001330999.2:c.509C>T, NM_001330999.1:c.509C>T, NM_001162529.3:c.509C>T, NM_001162529.2:c.509C>T, NM_001162529.1:c.509C>T, NM_001330996.3:c.509C>T, NM_001330996.2:c.509C>T, NM_001330996.1:c.509C>T, NM_001331004.3:c.-612C>T, NM_001331004.2:c.-612C>T, NM_001331004.1:c.-612C>T, NM_001331005.3:c.410C>T, NM_001331005.2:c.410C>T, NM_001331005.1:c.410C>T, NM_001331003.3:c.509C>T, NM_001331003.2:c.509C>T, NM_001331003.1:c.509C>T, NM_001330998.3:c.509C>T, NM_001330998.2:c.509C>T, NM_001330998.1:c.509C>T, NM_001331002.3:c.509C>T, NM_001331002.2:c.509C>T, NM_001331002.1:c.509C>T, NM_001105531.3:c.509C>T, NM_001105531.2:c.509C>T, NM_001331001.3:c.509C>T, NM_001331001.2:c.509C>T, NM_001331001.1:c.509C>T, NM_001330997.3:c.509C>T, NM_001330997.2:c.509C>T, NM_001330997.1:c.509C>T, NM_001331000.3:c.410C>T, NM_001331000.2:c.410C>T, NM_001331000.1:c.410C>T, NM_001331006.3:c.509C>T, NM_001331006.2:c.509C>T, NM_001331006.1:c.509C>T, NM_001330995.3:c.509C>T, NM_001330995.2:c.509C>T, NM_001330995.1:c.509C>T, NM_001351607.2:c.509C>T, NM_001351607.1:c.509C>T, NM_001351602.2:c.509C>T, NM_001351602.1:c.509C>T, NM_001351599.2:c.509C>T, NM_001351599.1:c.509C>T, NM_001351600.2:c.509C>T, NM_001351600.1:c.509C>T, NM_001351608.2:c.251C>T, NM_001351608.1:c.251C>T, NM_001351609.2:c.251C>T, NM_001351609.1:c.251C>T, XM_011535995.4:c.509C>T, XM_011535995.3:c.509C>T, XM_011535995.2:c.509C>T, XM_011535995.1:c.509C>T, XM_011535994.3:c.509C>T, XM_011535994.2:c.509C>T, XM_011535994.1:c.509C>T, XM_011535996.3:c.509C>T, XM_011535996.2:c.509C>T, XM_011535996.1:c.509C>T, XM_011535997.3:c.410C>T, XM_011535997.2:c.410C>T, XM_011535997.1:c.410C>T, XM_017011127.2:c.509C>T, XM_017011127.1:c.509C>T, XM_005248749.2:c.509C>T, XM_005248749.1:c.509C>T, XM_047419158.1:c.509C>T, XM_047419165.1:c.509C>T, XM_047419159.1:c.509C>T, XM_047419160.1:c.509C>T, XM_047419169.1:c.509C>T, XM_047419175.1:c.509C>T, XM_047419162.1:c.509C>T, XM_047419163.1:c.509C>T, XM_047419167.1:c.509C>T, XM_047419166.1:c.509C>T, XM_047419161.1:c.509C>T, XM_047419164.1:c.509C>T, XM_047419168.1:c.509C>T, XM_047419171.1:c.509C>T, XM_047419173.1:c.509C>T, XM_047419172.1:c.509C>T, XM_047419180.1:c.509C>T, XM_047419176.1:c.509C>T, XM_047419179.1:c.509C>T, XM_047419170.1:c.509C>T, XM_047419174.1:c.509C>T, XM_047419177.1:c.509C>T, XM_047419178.1:c.509C>T, NP_065870.3:p.Ala127Val, NP_001317928.1:p.Ala170Val, NP_001156001.1:p.Ala170Val, NP_001317925.1:p.Ala170Val, NP_001317934.1:p.Ala137Val, NP_001317932.1:p.Ala170Val, NP_001317927.1:p.Ala170Val, NP_001317931.1:p.Ala170Val, NP_001099001.1:p.Ala170Val, NP_001317930.1:p.Ala170Val, NP_001317926.1:p.Ala170Val, NP_001317929.1:p.Ala137Val, NP_001317935.1:p.Ala170Val, NP_001317924.1:p.Ala170Val, NP_001338536.1:p.Ala170Val, NP_001338531.1:p.Ala170Val, NP_001338528.1:p.Ala170Val, NP_001338529.1:p.Ala170Val, NP_001338537.1:p.Ala84Val, NP_001338538.1:p.Ala84Val, XP_011534297.1:p.Ala170Val, XP_011534296.1:p.Ala170Val, XP_011534298.1:p.Ala170Val, XP_011534299.1:p.Ala137Val, XP_016866616.1:p.Ala170Val, XP_005248806.1:p.Ala170Val, XP_047275114.1:p.Ala170Val, XP_047275121.1:p.Ala170Val, XP_047275115.1:p.Ala170Val, XP_047275116.1:p.Ala170Val, XP_047275125.1:p.Ala170Val, XP_047275131.1:p.Ala170Val, XP_047275118.1:p.Ala170Val, XP_047275119.1:p.Ala170Val, XP_047275123.1:p.Ala170Val, XP_047275122.1:p.Ala170Val, XP_047275117.1:p.Ala170Val, XP_047275120.1:p.Ala170Val, XP_047275124.1:p.Ala170Val, XP_047275127.1:p.Ala170Val, XP_047275129.1:p.Ala170Val, XP_047275128.1:p.Ala170Val, XP_047275136.1:p.Ala170Val, XP_047275132.1:p.Ala170Val, XP_047275135.1:p.Ala170Val, XP_047275126.1:p.Ala170Val, XP_047275130.1:p.Ala170Val, XP_047275133.1:p.Ala170Val, XP_047275134.1:p.Ala170Val

                      11.

                      rs1484689172 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->TCGCCGTATCATTAAA [Show Flanks]
                        Chromosome:
                        6:70428379 (GRCh38)
                        6:71138083 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:70428379::TCGCCGTATCATTAAA
                        Gene:
                        FAM135A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant,5_prime_UTR_variant,intron_variant
                        HGVS:
                        NC_000006.12:g.70428379_70428380insTCGCCGTATCATTAAA, NC_000006.11:g.71138082_71138083insTCGCCGTATCATTAAA, NG_054903.1:g.19976_19977insTCGCCGTATCATTAAA, NM_020819.5:c.37_38insTCGCCGTATCATTAAA, NM_020819.4:c.37_38insTCGCCGTATCATTAAA, NM_001330999.3:c.37_38insTCGCCGTATCATTAAA, NM_001330999.2:c.37_38insTCGCCGTATCATTAAA, NM_001330999.1:c.37_38insTCGCCGTATCATTAAA, NM_001162529.3:c.37_38insTCGCCGTATCATTAAA, NM_001162529.2:c.37_38insTCGCCGTATCATTAAA, NM_001162529.1:c.37_38insTCGCCGTATCATTAAA, NM_001330996.3:c.37_38insTCGCCGTATCATTAAA, NM_001330996.2:c.37_38insTCGCCGTATCATTAAA, NM_001330996.1:c.37_38insTCGCCGTATCATTAAA, NM_001331004.3:c.-1084_-1083insTCGCCGTATCATTAAA, NM_001331004.2:c.-1084_-1083insTCGCCGTATCATTAAA, NM_001331004.1:c.-1084_-1083insTCGCCGTATCATTAAA, NM_001331003.3:c.37_38insTCGCCGTATCATTAAA, NM_001331003.2:c.37_38insTCGCCGTATCATTAAA, NM_001331003.1:c.37_38insTCGCCGTATCATTAAA, NM_001330998.3:c.37_38insTCGCCGTATCATTAAA, NM_001330998.2:c.37_38insTCGCCGTATCATTAAA, NM_001330998.1:c.37_38insTCGCCGTATCATTAAA, NM_001331002.3:c.37_38insTCGCCGTATCATTAAA, NM_001331002.2:c.37_38insTCGCCGTATCATTAAA, NM_001331002.1:c.37_38insTCGCCGTATCATTAAA, NM_001105531.3:c.37_38insTCGCCGTATCATTAAA, NM_001105531.2:c.37_38insTCGCCGTATCATTAAA, NM_001331001.3:c.37_38insTCGCCGTATCATTAAA, NM_001331001.2:c.37_38insTCGCCGTATCATTAAA, NM_001331001.1:c.37_38insTCGCCGTATCATTAAA, NM_001330997.3:c.37_38insTCGCCGTATCATTAAA, NM_001330997.2:c.37_38insTCGCCGTATCATTAAA, NM_001330997.1:c.37_38insTCGCCGTATCATTAAA, NM_001331006.3:c.37_38insTCGCCGTATCATTAAA, NM_001331006.2:c.37_38insTCGCCGTATCATTAAA, NM_001331006.1:c.37_38insTCGCCGTATCATTAAA, NM_001330995.3:c.37_38insTCGCCGTATCATTAAA, NM_001330995.2:c.37_38insTCGCCGTATCATTAAA, NM_001330995.1:c.37_38insTCGCCGTATCATTAAA, NM_001351607.2:c.37_38insTCGCCGTATCATTAAA, NM_001351607.1:c.37_38insTCGCCGTATCATTAAA, NM_001351602.2:c.37_38insTCGCCGTATCATTAAA, NM_001351602.1:c.37_38insTCGCCGTATCATTAAA, NM_001351599.2:c.37_38insTCGCCGTATCATTAAA, NM_001351599.1:c.37_38insTCGCCGTATCATTAAA, NM_001351600.2:c.37_38insTCGCCGTATCATTAAA, NM_001351600.1:c.37_38insTCGCCGTATCATTAAA, NM_001351608.2:c.-173_-172insTCGCCGTATCATTAAA, NM_001351608.1:c.-173_-172insTCGCCGTATCATTAAA, NM_001351609.2:c.-173_-172insTCGCCGTATCATTAAA, NM_001351609.1:c.-173_-172insTCGCCGTATCATTAAA, XM_011535995.4:c.37_38insTCGCCGTATCATTAAA, XM_011535995.3:c.37_38insTCGCCGTATCATTAAA, XM_011535995.2:c.37_38insTCGCCGTATCATTAAA, XM_011535995.1:c.37_38insTCGCCGTATCATTAAA, XM_011535994.3:c.37_38insTCGCCGTATCATTAAA, XM_011535994.2:c.37_38insTCGCCGTATCATTAAA, XM_011535994.1:c.37_38insTCGCCGTATCATTAAA, XM_011535996.3:c.37_38insTCGCCGTATCATTAAA, XM_011535996.2:c.37_38insTCGCCGTATCATTAAA, XM_011535996.1:c.37_38insTCGCCGTATCATTAAA, XM_017011127.2:c.37_38insTCGCCGTATCATTAAA, XM_017011127.1:c.37_38insTCGCCGTATCATTAAA, XM_005248749.2:c.37_38insTCGCCGTATCATTAAA, XM_005248749.1:c.37_38insTCGCCGTATCATTAAA, XM_047419158.1:c.37_38insTCGCCGTATCATTAAA, XM_047419165.1:c.37_38insTCGCCGTATCATTAAA, XM_047419159.1:c.37_38insTCGCCGTATCATTAAA, XM_047419160.1:c.37_38insTCGCCGTATCATTAAA, XM_047419169.1:c.37_38insTCGCCGTATCATTAAA, XM_047419175.1:c.37_38insTCGCCGTATCATTAAA, XM_047419162.1:c.37_38insTCGCCGTATCATTAAA, XM_047419163.1:c.37_38insTCGCCGTATCATTAAA, XM_047419167.1:c.37_38insTCGCCGTATCATTAAA, XM_047419166.1:c.37_38insTCGCCGTATCATTAAA, XM_047419161.1:c.37_38insTCGCCGTATCATTAAA, XM_047419164.1:c.37_38insTCGCCGTATCATTAAA, XM_047419168.1:c.37_38insTCGCCGTATCATTAAA, XM_047419171.1:c.37_38insTCGCCGTATCATTAAA, XM_047419173.1:c.37_38insTCGCCGTATCATTAAA, XM_047419172.1:c.37_38insTCGCCGTATCATTAAA, XM_047419180.1:c.37_38insTCGCCGTATCATTAAA, XM_047419176.1:c.37_38insTCGCCGTATCATTAAA, XM_047419179.1:c.37_38insTCGCCGTATCATTAAA, XM_047419170.1:c.37_38insTCGCCGTATCATTAAA, XM_047419174.1:c.37_38insTCGCCGTATCATTAAA, XM_047419177.1:c.37_38insTCGCCGTATCATTAAA, XM_047419178.1:c.37_38insTCGCCGTATCATTAAA, NP_065870.3:p.Glu13fs, NP_001317928.1:p.Glu13fs, NP_001156001.1:p.Glu13fs, NP_001317925.1:p.Glu13fs, NP_001317932.1:p.Glu13fs, NP_001317927.1:p.Glu13fs, NP_001317931.1:p.Glu13fs, NP_001099001.1:p.Glu13fs, NP_001317930.1:p.Glu13fs, NP_001317926.1:p.Glu13fs, NP_001317935.1:p.Glu13fs, NP_001317924.1:p.Glu13fs, NP_001338536.1:p.Glu13fs, NP_001338531.1:p.Glu13fs, NP_001338528.1:p.Glu13fs, NP_001338529.1:p.Glu13fs, XP_011534297.1:p.Glu13fs, XP_011534296.1:p.Glu13fs, XP_011534298.1:p.Glu13fs, XP_016866616.1:p.Glu13fs, XP_005248806.1:p.Glu13fs, XP_047275114.1:p.Glu13fs, XP_047275121.1:p.Glu13fs, XP_047275115.1:p.Glu13fs, XP_047275116.1:p.Glu13fs, XP_047275125.1:p.Glu13fs, XP_047275131.1:p.Glu13fs, XP_047275118.1:p.Glu13fs, XP_047275119.1:p.Glu13fs, XP_047275123.1:p.Glu13fs, XP_047275122.1:p.Glu13fs, XP_047275117.1:p.Glu13fs, XP_047275120.1:p.Glu13fs, XP_047275124.1:p.Glu13fs, XP_047275127.1:p.Glu13fs, XP_047275129.1:p.Glu13fs, XP_047275128.1:p.Glu13fs, XP_047275136.1:p.Glu13fs, XP_047275132.1:p.Glu13fs, XP_047275135.1:p.Glu13fs, XP_047275126.1:p.Glu13fs, XP_047275130.1:p.Glu13fs, XP_047275133.1:p.Glu13fs, XP_047275134.1:p.Glu13fs

                        12.

                        rs1484066474 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:70525411 (GRCh38)
                          6:71235114 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:70525410:C:T
                          Gene:
                          FAM135A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.70525411C>T, NC_000006.11:g.71235114C>T, NG_054903.1:g.117008C>T, NM_020819.5:c.1688C>T, NM_020819.4:c.1688C>T, NM_001330999.3:c.2405C>T, NM_001330999.2:c.2405C>T, NM_001330999.1:c.2405C>T, NM_001162529.3:c.2327C>T, NM_001162529.2:c.2327C>T, NM_001162529.1:c.2327C>T, NM_001330996.3:c.2405C>T, NM_001330996.2:c.2405C>T, NM_001330996.1:c.2405C>T, NM_001331004.3:c.1052C>T, NM_001331004.2:c.1052C>T, NM_001331004.1:c.1052C>T, NM_001331005.3:c.2228C>T, NM_001331005.2:c.2228C>T, NM_001331005.1:c.2228C>T, NM_001331003.3:c.1817C>T, NM_001331003.2:c.1817C>T, NM_001331003.1:c.1817C>T, NM_001330998.3:c.1817C>T, NM_001330998.2:c.1817C>T, NM_001330998.1:c.1817C>T, NM_001331002.3:c.1739C>T, NM_001331002.2:c.1739C>T, NM_001331002.1:c.1739C>T, NM_001105531.3:c.1739C>T, NM_001105531.2:c.1739C>T, NM_001331001.3:c.1739C>T, NM_001331001.2:c.1739C>T, NM_001331001.1:c.1739C>T, NM_001330997.3:c.1739C>T, NM_001330997.2:c.1739C>T, NM_001330997.1:c.1739C>T, NM_001331000.3:c.1640C>T, NM_001331000.2:c.1640C>T, NM_001331000.1:c.1640C>T, NM_001351607.2:c.2327C>T, NM_001351607.1:c.2327C>T, NM_001351602.2:c.2327C>T, NM_001351602.1:c.2327C>T, NM_001351599.2:c.2405C>T, NM_001351599.1:c.2405C>T, NM_001351600.2:c.2327C>T, NM_001351600.1:c.2327C>T, NM_001351608.2:c.1481C>T, NM_001351608.1:c.1481C>T, XM_011535995.4:c.2405C>T, XM_011535995.3:c.2405C>T, XM_011535995.2:c.2405C>T, XM_011535995.1:c.2405C>T, XM_011535994.3:c.2405C>T, XM_011535994.2:c.2405C>T, XM_011535994.1:c.2405C>T, XM_011535996.3:c.2405C>T, XM_011535996.2:c.2405C>T, XM_011535996.1:c.2405C>T, XM_011535997.3:c.2306C>T, XM_011535997.2:c.2306C>T, XM_011535997.1:c.2306C>T, XM_017011127.2:c.2327C>T, XM_017011127.1:c.2327C>T, XM_047419158.1:c.2405C>T, XM_047419165.1:c.1817C>T, XM_047419159.1:c.2327C>T, XM_047419160.1:c.2327C>T, XM_047419162.1:c.1817C>T, XM_047419163.1:c.1817C>T, XM_047419167.1:c.1739C>T, XM_047419166.1:c.1739C>T, XM_047419161.1:c.1817C>T, XM_047419164.1:c.1817C>T, NP_065870.3:p.Pro563Leu, NP_001317928.1:p.Pro802Leu, NP_001156001.1:p.Pro776Leu, NP_001317925.1:p.Pro802Leu, NP_001317933.1:p.Pro351Leu, NP_001317934.1:p.Pro743Leu, NP_001317932.1:p.Pro606Leu, NP_001317927.1:p.Pro606Leu, NP_001317931.1:p.Pro580Leu, NP_001099001.1:p.Pro580Leu, NP_001317930.1:p.Pro580Leu, NP_001317926.1:p.Pro580Leu, NP_001317929.1:p.Pro547Leu, NP_001338536.1:p.Pro776Leu, NP_001338531.1:p.Pro776Leu, NP_001338528.1:p.Pro802Leu, NP_001338529.1:p.Pro776Leu, NP_001338537.1:p.Pro494Leu, XP_011534297.1:p.Pro802Leu, XP_011534296.1:p.Pro802Leu, XP_011534298.1:p.Pro802Leu, XP_011534299.1:p.Pro769Leu, XP_016866616.1:p.Pro776Leu, XP_047275114.1:p.Pro802Leu, XP_047275121.1:p.Pro606Leu, XP_047275115.1:p.Pro776Leu, XP_047275116.1:p.Pro776Leu, XP_047275118.1:p.Pro606Leu, XP_047275119.1:p.Pro606Leu, XP_047275123.1:p.Pro580Leu, XP_047275122.1:p.Pro580Leu, XP_047275117.1:p.Pro606Leu, XP_047275120.1:p.Pro606Leu

                          13.

                          rs1483496621 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            6:70526530 (GRCh38)
                            6:71236233 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:70526529:C:A
                            Gene:
                            FAM135A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            NC_000006.12:g.70526530C>A, NC_000006.11:g.71236233C>A, NG_054903.1:g.118127C>A, NM_020819.5:c.2807C>A, NM_020819.4:c.2807C>A, NM_001330999.3:c.3524C>A, NM_001330999.2:c.3524C>A, NM_001330999.1:c.3524C>A, NM_001162529.3:c.3446C>A, NM_001162529.2:c.3446C>A, NM_001162529.1:c.3446C>A, NM_001330996.3:c.3524C>A, NM_001330996.2:c.3524C>A, NM_001330996.1:c.3524C>A, NM_001331004.3:c.2171C>A, NM_001331004.2:c.2171C>A, NM_001331004.1:c.2171C>A, NM_001331005.3:c.3347C>A, NM_001331005.2:c.3347C>A, NM_001331005.1:c.3347C>A, NM_001331003.3:c.2936C>A, NM_001331003.2:c.2936C>A, NM_001331003.1:c.2936C>A, NM_001330998.3:c.2936C>A, NM_001330998.2:c.2936C>A, NM_001330998.1:c.2936C>A, NM_001331002.3:c.2858C>A, NM_001331002.2:c.2858C>A, NM_001331002.1:c.2858C>A, NM_001105531.3:c.2858C>A, NM_001105531.2:c.2858C>A, NM_001331001.3:c.2858C>A, NM_001331001.2:c.2858C>A, NM_001331001.1:c.2858C>A, NM_001330997.3:c.2858C>A, NM_001330997.2:c.2858C>A, NM_001330997.1:c.2858C>A, NM_001331000.3:c.2759C>A, NM_001331000.2:c.2759C>A, NM_001331000.1:c.2759C>A, NM_001331006.3:c.2264C>A, NM_001331006.2:c.2264C>A, NM_001331006.1:c.2264C>A, NM_001330995.3:c.2186C>A, NM_001330995.2:c.2186C>A, NM_001330995.1:c.2186C>A, NM_001351607.2:c.3446C>A, NM_001351607.1:c.3446C>A, NM_001351602.2:c.3446C>A, NM_001351602.1:c.3446C>A, NM_001351599.2:c.3524C>A, NM_001351599.1:c.3524C>A, NM_001351600.2:c.3446C>A, NM_001351600.1:c.3446C>A, NM_001351608.2:c.2600C>A, NM_001351608.1:c.2600C>A, NM_001351609.2:c.2006C>A, NM_001351609.1:c.2006C>A, XM_011535995.4:c.3524C>A, XM_011535995.3:c.3524C>A, XM_011535995.2:c.3524C>A, XM_011535995.1:c.3524C>A, XM_011535994.3:c.3524C>A, XM_011535994.2:c.3524C>A, XM_011535994.1:c.3524C>A, XM_011535996.3:c.3524C>A, XM_011535996.2:c.3524C>A, XM_011535996.1:c.3524C>A, XM_011535997.3:c.3425C>A, XM_011535997.2:c.3425C>A, XM_011535997.1:c.3425C>A, XM_017011127.2:c.3446C>A, XM_017011127.1:c.3446C>A, XM_005248749.2:c.2852C>A, XM_005248749.1:c.2852C>A, XM_047419158.1:c.3524C>A, XM_047419165.1:c.2936C>A, XM_047419159.1:c.3446C>A, XM_047419160.1:c.3446C>A, XM_047419169.1:c.2264C>A, XM_047419175.1:c.2186C>A, XM_047419162.1:c.2936C>A, XM_047419163.1:c.2936C>A, XM_047419167.1:c.2858C>A, XM_047419166.1:c.2858C>A, XM_047419161.1:c.2936C>A, XM_047419164.1:c.2936C>A, XM_047419168.1:c.2774C>A, XM_047419171.1:c.2264C>A, XM_047419173.1:c.2264C>A, XM_047419172.1:c.2264C>A, XM_047419180.1:c.2186C>A, XM_047419176.1:c.2186C>A, XM_047419179.1:c.2186C>A, XM_047419170.1:c.2264C>A, XM_047419174.1:c.2264C>A, XM_047419177.1:c.2186C>A, XM_047419178.1:c.2186C>A, NP_065870.3:p.Thr936Asn, NP_001317928.1:p.Thr1175Asn, NP_001156001.1:p.Thr1149Asn, NP_001317925.1:p.Thr1175Asn, NP_001317933.1:p.Thr724Asn, NP_001317934.1:p.Thr1116Asn, NP_001317932.1:p.Thr979Asn, NP_001317927.1:p.Thr979Asn, NP_001317931.1:p.Thr953Asn, NP_001099001.1:p.Thr953Asn, NP_001317930.1:p.Thr953Asn, NP_001317926.1:p.Thr953Asn, NP_001317929.1:p.Thr920Asn, NP_001317935.1:p.Thr755Asn, NP_001317924.1:p.Thr729Asn, NP_001338536.1:p.Thr1149Asn, NP_001338531.1:p.Thr1149Asn, NP_001338528.1:p.Thr1175Asn, NP_001338529.1:p.Thr1149Asn, NP_001338537.1:p.Thr867Asn, NP_001338538.1:p.Thr669Asn, XP_011534297.1:p.Thr1175Asn, XP_011534296.1:p.Thr1175Asn, XP_011534298.1:p.Thr1175Asn, XP_011534299.1:p.Thr1142Asn, XP_016866616.1:p.Thr1149Asn, XP_005248806.1:p.Thr951Asn, XP_047275114.1:p.Thr1175Asn, XP_047275121.1:p.Thr979Asn, XP_047275115.1:p.Thr1149Asn, XP_047275116.1:p.Thr1149Asn, XP_047275125.1:p.Thr755Asn, XP_047275131.1:p.Thr729Asn, XP_047275118.1:p.Thr979Asn, XP_047275119.1:p.Thr979Asn, XP_047275123.1:p.Thr953Asn, XP_047275122.1:p.Thr953Asn, XP_047275117.1:p.Thr979Asn, XP_047275120.1:p.Thr979Asn, XP_047275124.1:p.Thr925Asn, XP_047275127.1:p.Thr755Asn, XP_047275129.1:p.Thr755Asn, XP_047275128.1:p.Thr755Asn, XP_047275136.1:p.Thr729Asn, XP_047275132.1:p.Thr729Asn, XP_047275135.1:p.Thr729Asn, XP_047275126.1:p.Thr755Asn, XP_047275130.1:p.Thr755Asn, XP_047275133.1:p.Thr729Asn, XP_047275134.1:p.Thr729Asn

                            14.

                            rs1480150670 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:70526380 (GRCh38)
                              6:71236083 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:70526379:A:G
                              Gene:
                              FAM135A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.70526380A>G, NC_000006.11:g.71236083A>G, NG_054903.1:g.117977A>G, NM_020819.5:c.2657A>G, NM_020819.4:c.2657A>G, NM_001330999.3:c.3374A>G, NM_001330999.2:c.3374A>G, NM_001330999.1:c.3374A>G, NM_001162529.3:c.3296A>G, NM_001162529.2:c.3296A>G, NM_001162529.1:c.3296A>G, NM_001330996.3:c.3374A>G, NM_001330996.2:c.3374A>G, NM_001330996.1:c.3374A>G, NM_001331004.3:c.2021A>G, NM_001331004.2:c.2021A>G, NM_001331004.1:c.2021A>G, NM_001331005.3:c.3197A>G, NM_001331005.2:c.3197A>G, NM_001331005.1:c.3197A>G, NM_001331003.3:c.2786A>G, NM_001331003.2:c.2786A>G, NM_001331003.1:c.2786A>G, NM_001330998.3:c.2786A>G, NM_001330998.2:c.2786A>G, NM_001330998.1:c.2786A>G, NM_001331002.3:c.2708A>G, NM_001331002.2:c.2708A>G, NM_001331002.1:c.2708A>G, NM_001105531.3:c.2708A>G, NM_001105531.2:c.2708A>G, NM_001331001.3:c.2708A>G, NM_001331001.2:c.2708A>G, NM_001331001.1:c.2708A>G, NM_001330997.3:c.2708A>G, NM_001330997.2:c.2708A>G, NM_001330997.1:c.2708A>G, NM_001331000.3:c.2609A>G, NM_001331000.2:c.2609A>G, NM_001331000.1:c.2609A>G, NM_001331006.3:c.2114A>G, NM_001331006.2:c.2114A>G, NM_001331006.1:c.2114A>G, NM_001330995.3:c.2036A>G, NM_001330995.2:c.2036A>G, NM_001330995.1:c.2036A>G, NM_001351607.2:c.3296A>G, NM_001351607.1:c.3296A>G, NM_001351602.2:c.3296A>G, NM_001351602.1:c.3296A>G, NM_001351599.2:c.3374A>G, NM_001351599.1:c.3374A>G, NM_001351600.2:c.3296A>G, NM_001351600.1:c.3296A>G, NM_001351608.2:c.2450A>G, NM_001351608.1:c.2450A>G, NM_001351609.2:c.1856A>G, NM_001351609.1:c.1856A>G, XM_011535995.4:c.3374A>G, XM_011535995.3:c.3374A>G, XM_011535995.2:c.3374A>G, XM_011535995.1:c.3374A>G, XM_011535994.3:c.3374A>G, XM_011535994.2:c.3374A>G, XM_011535994.1:c.3374A>G, XM_011535996.3:c.3374A>G, XM_011535996.2:c.3374A>G, XM_011535996.1:c.3374A>G, XM_011535997.3:c.3275A>G, XM_011535997.2:c.3275A>G, XM_011535997.1:c.3275A>G, XM_017011127.2:c.3296A>G, XM_017011127.1:c.3296A>G, XM_005248749.2:c.2702A>G, XM_005248749.1:c.2702A>G, XM_047419158.1:c.3374A>G, XM_047419165.1:c.2786A>G, XM_047419159.1:c.3296A>G, XM_047419160.1:c.3296A>G, XM_047419169.1:c.2114A>G, XM_047419175.1:c.2036A>G, XM_047419162.1:c.2786A>G, XM_047419163.1:c.2786A>G, XM_047419167.1:c.2708A>G, XM_047419166.1:c.2708A>G, XM_047419161.1:c.2786A>G, XM_047419164.1:c.2786A>G, XM_047419168.1:c.2624A>G, XM_047419171.1:c.2114A>G, XM_047419173.1:c.2114A>G, XM_047419172.1:c.2114A>G, XM_047419180.1:c.2036A>G, XM_047419176.1:c.2036A>G, XM_047419179.1:c.2036A>G, XM_047419170.1:c.2114A>G, XM_047419174.1:c.2114A>G, XM_047419177.1:c.2036A>G, XM_047419178.1:c.2036A>G, NP_065870.3:p.Tyr886Cys, NP_001317928.1:p.Tyr1125Cys, NP_001156001.1:p.Tyr1099Cys, NP_001317925.1:p.Tyr1125Cys, NP_001317933.1:p.Tyr674Cys, NP_001317934.1:p.Tyr1066Cys, NP_001317932.1:p.Tyr929Cys, NP_001317927.1:p.Tyr929Cys, NP_001317931.1:p.Tyr903Cys, NP_001099001.1:p.Tyr903Cys, NP_001317930.1:p.Tyr903Cys, NP_001317926.1:p.Tyr903Cys, NP_001317929.1:p.Tyr870Cys, NP_001317935.1:p.Tyr705Cys, NP_001317924.1:p.Tyr679Cys, NP_001338536.1:p.Tyr1099Cys, NP_001338531.1:p.Tyr1099Cys, NP_001338528.1:p.Tyr1125Cys, NP_001338529.1:p.Tyr1099Cys, NP_001338537.1:p.Tyr817Cys, NP_001338538.1:p.Tyr619Cys, XP_011534297.1:p.Tyr1125Cys, XP_011534296.1:p.Tyr1125Cys, XP_011534298.1:p.Tyr1125Cys, XP_011534299.1:p.Tyr1092Cys, XP_016866616.1:p.Tyr1099Cys, XP_005248806.1:p.Tyr901Cys, XP_047275114.1:p.Tyr1125Cys, XP_047275121.1:p.Tyr929Cys, XP_047275115.1:p.Tyr1099Cys, XP_047275116.1:p.Tyr1099Cys, XP_047275125.1:p.Tyr705Cys, XP_047275131.1:p.Tyr679Cys, XP_047275118.1:p.Tyr929Cys, XP_047275119.1:p.Tyr929Cys, XP_047275123.1:p.Tyr903Cys, XP_047275122.1:p.Tyr903Cys, XP_047275117.1:p.Tyr929Cys, XP_047275120.1:p.Tyr929Cys, XP_047275124.1:p.Tyr875Cys, XP_047275127.1:p.Tyr705Cys, XP_047275129.1:p.Tyr705Cys, XP_047275128.1:p.Tyr705Cys, XP_047275136.1:p.Tyr679Cys, XP_047275132.1:p.Tyr679Cys, XP_047275135.1:p.Tyr679Cys, XP_047275126.1:p.Tyr705Cys, XP_047275130.1:p.Tyr705Cys, XP_047275133.1:p.Tyr679Cys, XP_047275134.1:p.Tyr679Cys

                              15.

                              rs1479680296 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:70525190 (GRCh38)
                                6:71234893 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:70525189:T:C
                                Gene:
                                FAM135A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.70525190T>C, NC_000006.11:g.71234893T>C, NG_054903.1:g.116787T>C, NM_020819.5:c.1467T>C, NM_020819.4:c.1467T>C, NM_001330999.3:c.2184T>C, NM_001330999.2:c.2184T>C, NM_001330999.1:c.2184T>C, NM_001162529.3:c.2106T>C, NM_001162529.2:c.2106T>C, NM_001162529.1:c.2106T>C, NM_001330996.3:c.2184T>C, NM_001330996.2:c.2184T>C, NM_001330996.1:c.2184T>C, NM_001331004.3:c.831T>C, NM_001331004.2:c.831T>C, NM_001331004.1:c.831T>C, NM_001331005.3:c.2007T>C, NM_001331005.2:c.2007T>C, NM_001331005.1:c.2007T>C, NM_001331003.3:c.1596T>C, NM_001331003.2:c.1596T>C, NM_001331003.1:c.1596T>C, NM_001330998.3:c.1596T>C, NM_001330998.2:c.1596T>C, NM_001330998.1:c.1596T>C, NM_001331002.3:c.1518T>C, NM_001331002.2:c.1518T>C, NM_001331002.1:c.1518T>C, NM_001105531.3:c.1518T>C, NM_001105531.2:c.1518T>C, NM_001331001.3:c.1518T>C, NM_001331001.2:c.1518T>C, NM_001331001.1:c.1518T>C, NM_001330997.3:c.1518T>C, NM_001330997.2:c.1518T>C, NM_001330997.1:c.1518T>C, NM_001331000.3:c.1419T>C, NM_001331000.2:c.1419T>C, NM_001331000.1:c.1419T>C, NM_001331006.3:c.1596T>C, NM_001331006.2:c.1596T>C, NM_001331006.1:c.1596T>C, NM_001330995.3:c.1518T>C, NM_001330995.2:c.1518T>C, NM_001330995.1:c.1518T>C, NM_001351607.2:c.2106T>C, NM_001351607.1:c.2106T>C, NM_001351602.2:c.2106T>C, NM_001351602.1:c.2106T>C, NM_001351599.2:c.2184T>C, NM_001351599.1:c.2184T>C, NM_001351600.2:c.2106T>C, NM_001351600.1:c.2106T>C, NM_001351608.2:c.1260T>C, NM_001351608.1:c.1260T>C, NM_001351609.2:c.1338T>C, NM_001351609.1:c.1338T>C, XM_011535995.4:c.2184T>C, XM_011535995.3:c.2184T>C, XM_011535995.2:c.2184T>C, XM_011535995.1:c.2184T>C, XM_011535994.3:c.2184T>C, XM_011535994.2:c.2184T>C, XM_011535994.1:c.2184T>C, XM_011535996.3:c.2184T>C, XM_011535996.2:c.2184T>C, XM_011535996.1:c.2184T>C, XM_011535997.3:c.2085T>C, XM_011535997.2:c.2085T>C, XM_011535997.1:c.2085T>C, XM_017011127.2:c.2106T>C, XM_017011127.1:c.2106T>C, XM_005248749.2:c.2184T>C, XM_005248749.1:c.2184T>C, XM_047419158.1:c.2184T>C, XM_047419165.1:c.1596T>C, XM_047419159.1:c.2106T>C, XM_047419160.1:c.2106T>C, XM_047419169.1:c.1596T>C, XM_047419175.1:c.1518T>C, XM_047419162.1:c.1596T>C, XM_047419163.1:c.1596T>C, XM_047419167.1:c.1518T>C, XM_047419166.1:c.1518T>C, XM_047419161.1:c.1596T>C, XM_047419164.1:c.1596T>C, XM_047419168.1:c.2106T>C, XM_047419171.1:c.1596T>C, XM_047419173.1:c.1596T>C, XM_047419172.1:c.1596T>C, XM_047419180.1:c.1518T>C, XM_047419176.1:c.1518T>C, XM_047419179.1:c.1518T>C, XM_047419170.1:c.1596T>C, XM_047419174.1:c.1596T>C, XM_047419177.1:c.1518T>C, XM_047419178.1:c.1518T>C

                                16.

                                rs1479174340 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  6:70525098 (GRCh38)
                                  6:71234801 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:70525097:A:G,NC_000006.12:70525097:A:T
                                  Gene:
                                  FAM135A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000094/1 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.70525098A>G, NC_000006.12:g.70525098A>T, NC_000006.11:g.71234801A>G, NC_000006.11:g.71234801A>T, NG_054903.1:g.116695A>G, NG_054903.1:g.116695A>T, NM_020819.5:c.1375A>G, NM_020819.5:c.1375A>T, NM_020819.4:c.1375A>G, NM_020819.4:c.1375A>T, NM_001330999.3:c.2092A>G, NM_001330999.3:c.2092A>T, NM_001330999.2:c.2092A>G, NM_001330999.2:c.2092A>T, NM_001330999.1:c.2092A>G, NM_001330999.1:c.2092A>T, NM_001162529.3:c.2014A>G, NM_001162529.3:c.2014A>T, NM_001162529.2:c.2014A>G, NM_001162529.2:c.2014A>T, NM_001162529.1:c.2014A>G, NM_001162529.1:c.2014A>T, NM_001330996.3:c.2092A>G, NM_001330996.3:c.2092A>T, NM_001330996.2:c.2092A>G, NM_001330996.2:c.2092A>T, NM_001330996.1:c.2092A>G, NM_001330996.1:c.2092A>T, NM_001331004.3:c.739A>G, NM_001331004.3:c.739A>T, NM_001331004.2:c.739A>G, NM_001331004.2:c.739A>T, NM_001331004.1:c.739A>G, NM_001331004.1:c.739A>T, NM_001331005.3:c.1915A>G, NM_001331005.3:c.1915A>T, NM_001331005.2:c.1915A>G, NM_001331005.2:c.1915A>T, NM_001331005.1:c.1915A>G, NM_001331005.1:c.1915A>T, NM_001331003.3:c.1504A>G, NM_001331003.3:c.1504A>T, NM_001331003.2:c.1504A>G, NM_001331003.2:c.1504A>T, NM_001331003.1:c.1504A>G, NM_001331003.1:c.1504A>T, NM_001330998.3:c.1504A>G, NM_001330998.3:c.1504A>T, NM_001330998.2:c.1504A>G, NM_001330998.2:c.1504A>T, NM_001330998.1:c.1504A>G, NM_001330998.1:c.1504A>T, NM_001331002.3:c.1426A>G, NM_001331002.3:c.1426A>T, NM_001331002.2:c.1426A>G, NM_001331002.2:c.1426A>T, NM_001331002.1:c.1426A>G, NM_001331002.1:c.1426A>T, NM_001105531.3:c.1426A>G, NM_001105531.3:c.1426A>T, NM_001105531.2:c.1426A>G, NM_001105531.2:c.1426A>T, NM_001331001.3:c.1426A>G, NM_001331001.3:c.1426A>T, NM_001331001.2:c.1426A>G, NM_001331001.2:c.1426A>T, NM_001331001.1:c.1426A>G, NM_001331001.1:c.1426A>T, NM_001330997.3:c.1426A>G, NM_001330997.3:c.1426A>T, NM_001330997.2:c.1426A>G, NM_001330997.2:c.1426A>T, NM_001330997.1:c.1426A>G, NM_001330997.1:c.1426A>T, NM_001331000.3:c.1327A>G, NM_001331000.3:c.1327A>T, NM_001331000.2:c.1327A>G, NM_001331000.2:c.1327A>T, NM_001331000.1:c.1327A>G, NM_001331000.1:c.1327A>T, NM_001331006.3:c.1504A>G, NM_001331006.3:c.1504A>T, NM_001331006.2:c.1504A>G, NM_001331006.2:c.1504A>T, NM_001331006.1:c.1504A>G, NM_001331006.1:c.1504A>T, NM_001330995.3:c.1426A>G, NM_001330995.3:c.1426A>T, NM_001330995.2:c.1426A>G, NM_001330995.2:c.1426A>T, NM_001330995.1:c.1426A>G, NM_001330995.1:c.1426A>T, NM_001351607.2:c.2014A>G, NM_001351607.2:c.2014A>T, NM_001351607.1:c.2014A>G, NM_001351607.1:c.2014A>T, NM_001351602.2:c.2014A>G, NM_001351602.2:c.2014A>T, NM_001351602.1:c.2014A>G, NM_001351602.1:c.2014A>T, NM_001351599.2:c.2092A>G, NM_001351599.2:c.2092A>T, NM_001351599.1:c.2092A>G, NM_001351599.1:c.2092A>T, NM_001351600.2:c.2014A>G, NM_001351600.2:c.2014A>T, NM_001351600.1:c.2014A>G, NM_001351600.1:c.2014A>T, NM_001351608.2:c.1168A>G, NM_001351608.2:c.1168A>T, NM_001351608.1:c.1168A>G, NM_001351608.1:c.1168A>T, NM_001351609.2:c.1246A>G, NM_001351609.2:c.1246A>T, NM_001351609.1:c.1246A>G, NM_001351609.1:c.1246A>T, XM_011535995.4:c.2092A>G, XM_011535995.4:c.2092A>T, XM_011535995.3:c.2092A>G, XM_011535995.3:c.2092A>T, XM_011535995.2:c.2092A>G, XM_011535995.2:c.2092A>T, XM_011535995.1:c.2092A>G, XM_011535995.1:c.2092A>T, XM_011535994.3:c.2092A>G, XM_011535994.3:c.2092A>T, XM_011535994.2:c.2092A>G, XM_011535994.2:c.2092A>T, XM_011535994.1:c.2092A>G, XM_011535994.1:c.2092A>T, XM_011535996.3:c.2092A>G, XM_011535996.3:c.2092A>T, XM_011535996.2:c.2092A>G, XM_011535996.2:c.2092A>T, XM_011535996.1:c.2092A>G, XM_011535996.1:c.2092A>T, XM_011535997.3:c.1993A>G, XM_011535997.3:c.1993A>T, XM_011535997.2:c.1993A>G, XM_011535997.2:c.1993A>T, XM_011535997.1:c.1993A>G, XM_011535997.1:c.1993A>T, XM_017011127.2:c.2014A>G, XM_017011127.2:c.2014A>T, XM_017011127.1:c.2014A>G, XM_017011127.1:c.2014A>T, XM_005248749.2:c.2092A>G, XM_005248749.2:c.2092A>T, XM_005248749.1:c.2092A>G, XM_005248749.1:c.2092A>T, XM_047419158.1:c.2092A>G, XM_047419158.1:c.2092A>T, XM_047419165.1:c.1504A>G, XM_047419165.1:c.1504A>T, XM_047419159.1:c.2014A>G, XM_047419159.1:c.2014A>T, XM_047419160.1:c.2014A>G, XM_047419160.1:c.2014A>T, XM_047419169.1:c.1504A>G, XM_047419169.1:c.1504A>T, XM_047419175.1:c.1426A>G, XM_047419175.1:c.1426A>T, XM_047419162.1:c.1504A>G, XM_047419162.1:c.1504A>T, XM_047419163.1:c.1504A>G, XM_047419163.1:c.1504A>T, XM_047419167.1:c.1426A>G, XM_047419167.1:c.1426A>T, XM_047419166.1:c.1426A>G, XM_047419166.1:c.1426A>T, XM_047419161.1:c.1504A>G, XM_047419161.1:c.1504A>T, XM_047419164.1:c.1504A>G, XM_047419164.1:c.1504A>T, XM_047419168.1:c.2014A>G, XM_047419168.1:c.2014A>T, XM_047419171.1:c.1504A>G, XM_047419171.1:c.1504A>T, XM_047419173.1:c.1504A>G, XM_047419173.1:c.1504A>T, XM_047419172.1:c.1504A>G, XM_047419172.1:c.1504A>T, XM_047419180.1:c.1426A>G, XM_047419180.1:c.1426A>T, XM_047419176.1:c.1426A>G, XM_047419176.1:c.1426A>T, XM_047419179.1:c.1426A>G, XM_047419179.1:c.1426A>T, XM_047419170.1:c.1504A>G, XM_047419170.1:c.1504A>T, XM_047419174.1:c.1504A>G, XM_047419174.1:c.1504A>T, XM_047419177.1:c.1426A>G, XM_047419177.1:c.1426A>T, XM_047419178.1:c.1426A>G, XM_047419178.1:c.1426A>T, NP_065870.3:p.Ile459Val, NP_065870.3:p.Ile459Leu, NP_001317928.1:p.Ile698Val, NP_001317928.1:p.Ile698Leu, NP_001156001.1:p.Ile672Val, NP_001156001.1:p.Ile672Leu, NP_001317925.1:p.Ile698Val, NP_001317925.1:p.Ile698Leu, NP_001317933.1:p.Ile247Val, NP_001317933.1:p.Ile247Leu, NP_001317934.1:p.Ile639Val, NP_001317934.1:p.Ile639Leu, NP_001317932.1:p.Ile502Val, NP_001317932.1:p.Ile502Leu, NP_001317927.1:p.Ile502Val, NP_001317927.1:p.Ile502Leu, NP_001317931.1:p.Ile476Val, NP_001317931.1:p.Ile476Leu, NP_001099001.1:p.Ile476Val, NP_001099001.1:p.Ile476Leu, NP_001317930.1:p.Ile476Val, NP_001317930.1:p.Ile476Leu, NP_001317926.1:p.Ile476Val, NP_001317926.1:p.Ile476Leu, NP_001317929.1:p.Ile443Val, NP_001317929.1:p.Ile443Leu, NP_001317935.1:p.Ile502Val, NP_001317935.1:p.Ile502Leu, NP_001317924.1:p.Ile476Val, NP_001317924.1:p.Ile476Leu, NP_001338536.1:p.Ile672Val, NP_001338536.1:p.Ile672Leu, NP_001338531.1:p.Ile672Val, NP_001338531.1:p.Ile672Leu, NP_001338528.1:p.Ile698Val, NP_001338528.1:p.Ile698Leu, NP_001338529.1:p.Ile672Val, NP_001338529.1:p.Ile672Leu, NP_001338537.1:p.Ile390Val, NP_001338537.1:p.Ile390Leu, NP_001338538.1:p.Ile416Val, NP_001338538.1:p.Ile416Leu, XP_011534297.1:p.Ile698Val, XP_011534297.1:p.Ile698Leu, XP_011534296.1:p.Ile698Val, XP_011534296.1:p.Ile698Leu, XP_011534298.1:p.Ile698Val, XP_011534298.1:p.Ile698Leu, XP_011534299.1:p.Ile665Val, XP_011534299.1:p.Ile665Leu, XP_016866616.1:p.Ile672Val, XP_016866616.1:p.Ile672Leu, XP_005248806.1:p.Ile698Val, XP_005248806.1:p.Ile698Leu, XP_047275114.1:p.Ile698Val, XP_047275114.1:p.Ile698Leu, XP_047275121.1:p.Ile502Val, XP_047275121.1:p.Ile502Leu, XP_047275115.1:p.Ile672Val, XP_047275115.1:p.Ile672Leu, XP_047275116.1:p.Ile672Val, XP_047275116.1:p.Ile672Leu, XP_047275125.1:p.Ile502Val, XP_047275125.1:p.Ile502Leu, XP_047275131.1:p.Ile476Val, XP_047275131.1:p.Ile476Leu, XP_047275118.1:p.Ile502Val, XP_047275118.1:p.Ile502Leu, XP_047275119.1:p.Ile502Val, XP_047275119.1:p.Ile502Leu, XP_047275123.1:p.Ile476Val, XP_047275123.1:p.Ile476Leu, XP_047275122.1:p.Ile476Val, XP_047275122.1:p.Ile476Leu, XP_047275117.1:p.Ile502Val, XP_047275117.1:p.Ile502Leu, XP_047275120.1:p.Ile502Val, XP_047275120.1:p.Ile502Leu, XP_047275124.1:p.Ile672Val, XP_047275124.1:p.Ile672Leu, XP_047275127.1:p.Ile502Val, XP_047275127.1:p.Ile502Leu, XP_047275129.1:p.Ile502Val, XP_047275129.1:p.Ile502Leu, XP_047275128.1:p.Ile502Val, XP_047275128.1:p.Ile502Leu, XP_047275136.1:p.Ile476Val, XP_047275136.1:p.Ile476Leu, XP_047275132.1:p.Ile476Val, XP_047275132.1:p.Ile476Leu, XP_047275135.1:p.Ile476Val, XP_047275135.1:p.Ile476Leu, XP_047275126.1:p.Ile502Val, XP_047275126.1:p.Ile502Leu, XP_047275130.1:p.Ile502Val, XP_047275130.1:p.Ile502Leu, XP_047275133.1:p.Ile476Val, XP_047275133.1:p.Ile476Leu, XP_047275134.1:p.Ile476Val, XP_047275134.1:p.Ile476Leu

                                  17.

                                  rs1476393545 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    6:70526468 (GRCh38)
                                    6:71236171 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:70526467:A:T
                                    Gene:
                                    FAM135A (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000006.12:g.70526468A>T, NC_000006.11:g.71236171A>T, NG_054903.1:g.118065A>T, NM_020819.5:c.2745A>T, NM_020819.4:c.2745A>T, NM_001330999.3:c.3462A>T, NM_001330999.2:c.3462A>T, NM_001330999.1:c.3462A>T, NM_001162529.3:c.3384A>T, NM_001162529.2:c.3384A>T, NM_001162529.1:c.3384A>T, NM_001330996.3:c.3462A>T, NM_001330996.2:c.3462A>T, NM_001330996.1:c.3462A>T, NM_001331004.3:c.2109A>T, NM_001331004.2:c.2109A>T, NM_001331004.1:c.2109A>T, NM_001331005.3:c.3285A>T, NM_001331005.2:c.3285A>T, NM_001331005.1:c.3285A>T, NM_001331003.3:c.2874A>T, NM_001331003.2:c.2874A>T, NM_001331003.1:c.2874A>T, NM_001330998.3:c.2874A>T, NM_001330998.2:c.2874A>T, NM_001330998.1:c.2874A>T, NM_001331002.3:c.2796A>T, NM_001331002.2:c.2796A>T, NM_001331002.1:c.2796A>T, NM_001105531.3:c.2796A>T, NM_001105531.2:c.2796A>T, NM_001331001.3:c.2796A>T, NM_001331001.2:c.2796A>T, NM_001331001.1:c.2796A>T, NM_001330997.3:c.2796A>T, NM_001330997.2:c.2796A>T, NM_001330997.1:c.2796A>T, NM_001331000.3:c.2697A>T, NM_001331000.2:c.2697A>T, NM_001331000.1:c.2697A>T, NM_001331006.3:c.2202A>T, NM_001331006.2:c.2202A>T, NM_001331006.1:c.2202A>T, NM_001330995.3:c.2124A>T, NM_001330995.2:c.2124A>T, NM_001330995.1:c.2124A>T, NM_001351607.2:c.3384A>T, NM_001351607.1:c.3384A>T, NM_001351602.2:c.3384A>T, NM_001351602.1:c.3384A>T, NM_001351599.2:c.3462A>T, NM_001351599.1:c.3462A>T, NM_001351600.2:c.3384A>T, NM_001351600.1:c.3384A>T, NM_001351608.2:c.2538A>T, NM_001351608.1:c.2538A>T, NM_001351609.2:c.1944A>T, NM_001351609.1:c.1944A>T, XM_011535995.4:c.3462A>T, XM_011535995.3:c.3462A>T, XM_011535995.2:c.3462A>T, XM_011535995.1:c.3462A>T, XM_011535994.3:c.3462A>T, XM_011535994.2:c.3462A>T, XM_011535994.1:c.3462A>T, XM_011535996.3:c.3462A>T, XM_011535996.2:c.3462A>T, XM_011535996.1:c.3462A>T, XM_011535997.3:c.3363A>T, XM_011535997.2:c.3363A>T, XM_011535997.1:c.3363A>T, XM_017011127.2:c.3384A>T, XM_017011127.1:c.3384A>T, XM_005248749.2:c.2790A>T, XM_005248749.1:c.2790A>T, XM_047419158.1:c.3462A>T, XM_047419165.1:c.2874A>T, XM_047419159.1:c.3384A>T, XM_047419160.1:c.3384A>T, XM_047419169.1:c.2202A>T, XM_047419175.1:c.2124A>T, XM_047419162.1:c.2874A>T, XM_047419163.1:c.2874A>T, XM_047419167.1:c.2796A>T, XM_047419166.1:c.2796A>T, XM_047419161.1:c.2874A>T, XM_047419164.1:c.2874A>T, XM_047419168.1:c.2712A>T, XM_047419171.1:c.2202A>T, XM_047419173.1:c.2202A>T, XM_047419172.1:c.2202A>T, XM_047419180.1:c.2124A>T, XM_047419176.1:c.2124A>T, XM_047419179.1:c.2124A>T, XM_047419170.1:c.2202A>T, XM_047419174.1:c.2202A>T, XM_047419177.1:c.2124A>T, XM_047419178.1:c.2124A>T

                                    18.

                                    rs1476170638 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AGA>- [Show Flanks]
                                      Chromosome:
                                      6:70475489 (GRCh38)
                                      6:71185192 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:70475486:GAAGA:GA
                                      Gene:
                                      FAM135A (Varview)
                                      Functional Consequence:
                                      inframe_deletion,5_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      GA=0./0 (ALFA)
                                      HGVS:
                                      NC_000006.12:g.70475489_70475491del, NC_000006.11:g.71185192_71185194del, NG_054903.1:g.67086_67088del, NM_020819.5:c.108_110del, NM_020819.4:c.108_110del, NM_001330999.3:c.237_239del, NM_001330999.2:c.237_239del, NM_001330999.1:c.237_239del, NM_001162529.3:c.237_239del, NM_001162529.2:c.237_239del, NM_001162529.1:c.237_239del, NM_001330996.3:c.237_239del, NM_001330996.2:c.237_239del, NM_001330996.1:c.237_239del, NM_001331004.3:c.-884_-882del, NM_001331004.2:c.-884_-882del, NM_001331004.1:c.-884_-882del, NM_001331005.3:c.138_140del, NM_001331005.2:c.138_140del, NM_001331005.1:c.138_140del, NM_001331003.3:c.237_239del, NM_001331003.2:c.237_239del, NM_001331003.1:c.237_239del, NM_001330998.3:c.237_239del, NM_001330998.2:c.237_239del, NM_001330998.1:c.237_239del, NM_001331002.3:c.237_239del, NM_001331002.2:c.237_239del, NM_001331002.1:c.237_239del, NM_001105531.3:c.237_239del, NM_001105531.2:c.237_239del, NM_001331001.3:c.237_239del, NM_001331001.2:c.237_239del, NM_001331001.1:c.237_239del, NM_001330997.3:c.237_239del, NM_001330997.2:c.237_239del, NM_001330997.1:c.237_239del, NM_001331000.3:c.138_140del, NM_001331000.2:c.138_140del, NM_001331000.1:c.138_140del, NM_001331006.3:c.237_239del, NM_001331006.2:c.237_239del, NM_001331006.1:c.237_239del, NM_001330995.3:c.237_239del, NM_001330995.2:c.237_239del, NM_001330995.1:c.237_239del, NM_001351607.2:c.237_239del, NM_001351607.1:c.237_239del, NM_001351602.2:c.237_239del, NM_001351602.1:c.237_239del, NM_001351599.2:c.237_239del, NM_001351599.1:c.237_239del, NM_001351600.2:c.237_239del, NM_001351600.1:c.237_239del, NM_001351608.2:c.-22_-20del, NM_001351608.1:c.-22_-20del, NM_001351609.2:c.-22_-20del, NM_001351609.1:c.-22_-20del, XM_011535995.4:c.237_239del, XM_011535995.3:c.237_239del, XM_011535995.2:c.237_239del, XM_011535995.1:c.237_239del, XM_011535994.3:c.237_239del, XM_011535994.2:c.237_239del, XM_011535994.1:c.237_239del, XM_011535996.3:c.237_239del, XM_011535996.2:c.237_239del, XM_011535996.1:c.237_239del, XM_011535997.3:c.138_140del, XM_011535997.2:c.138_140del, XM_011535997.1:c.138_140del, XM_017011127.2:c.237_239del, XM_017011127.1:c.237_239del, XM_005248749.2:c.237_239del, XM_005248749.1:c.237_239del, XM_047419158.1:c.237_239del, XM_047419165.1:c.237_239del, XM_047419159.1:c.237_239del, XM_047419160.1:c.237_239del, XM_047419169.1:c.237_239del, XM_047419175.1:c.237_239del, XM_047419162.1:c.237_239del, XM_047419163.1:c.237_239del, XM_047419167.1:c.237_239del, XM_047419166.1:c.237_239del, XM_047419161.1:c.237_239del, XM_047419164.1:c.237_239del, XM_047419168.1:c.237_239del, XM_047419171.1:c.237_239del, XM_047419173.1:c.237_239del, XM_047419172.1:c.237_239del, XM_047419180.1:c.237_239del, XM_047419176.1:c.237_239del, XM_047419179.1:c.237_239del, XM_047419170.1:c.237_239del, XM_047419174.1:c.237_239del, XM_047419177.1:c.237_239del, XM_047419178.1:c.237_239del, NP_065870.3:p.Glu37del, NP_001317928.1:p.Glu80del, NP_001156001.1:p.Glu80del, NP_001317925.1:p.Glu80del, NP_001317934.1:p.Glu47del, NP_001317932.1:p.Glu80del, NP_001317927.1:p.Glu80del, NP_001317931.1:p.Glu80del, NP_001099001.1:p.Glu80del, NP_001317930.1:p.Glu80del, NP_001317926.1:p.Glu80del, NP_001317929.1:p.Glu47del, NP_001317935.1:p.Glu80del, NP_001317924.1:p.Glu80del, NP_001338536.1:p.Glu80del, NP_001338531.1:p.Glu80del, NP_001338528.1:p.Glu80del, NP_001338529.1:p.Glu80del, XP_011534297.1:p.Glu80del, XP_011534296.1:p.Glu80del, XP_011534298.1:p.Glu80del, XP_011534299.1:p.Glu47del, XP_016866616.1:p.Glu80del, XP_005248806.1:p.Glu80del, XP_047275114.1:p.Glu80del, XP_047275121.1:p.Glu80del, XP_047275115.1:p.Glu80del, XP_047275116.1:p.Glu80del, XP_047275125.1:p.Glu80del, XP_047275131.1:p.Glu80del, XP_047275118.1:p.Glu80del, XP_047275119.1:p.Glu80del, XP_047275123.1:p.Glu80del, XP_047275122.1:p.Glu80del, XP_047275117.1:p.Glu80del, XP_047275120.1:p.Glu80del, XP_047275124.1:p.Glu80del, XP_047275127.1:p.Glu80del, XP_047275129.1:p.Glu80del, XP_047275128.1:p.Glu80del, XP_047275136.1:p.Glu80del, XP_047275132.1:p.Glu80del, XP_047275135.1:p.Glu80del, XP_047275126.1:p.Glu80del, XP_047275130.1:p.Glu80del, XP_047275133.1:p.Glu80del, XP_047275134.1:p.Glu80del

                                      19.

                                      rs1475725236 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        6:70502652 (GRCh38)
                                        6:71212355 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:70502651:A:T
                                        Gene:
                                        FAM135A (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.70502652A>T, NC_000006.11:g.71212355A>T, NG_054903.1:g.94249A>T, NM_020819.5:c.839A>T, NM_020819.4:c.839A>T, NM_001330999.3:c.968A>T, NM_001330999.2:c.968A>T, NM_001330999.1:c.968A>T, NM_001162529.3:c.890A>T, NM_001162529.2:c.890A>T, NM_001162529.1:c.890A>T, NM_001330996.3:c.968A>T, NM_001330996.2:c.968A>T, NM_001330996.1:c.968A>T, NM_001331004.3:c.-231A>T, NM_001331004.2:c.-231A>T, NM_001331004.1:c.-231A>T, NM_001331005.3:c.791A>T, NM_001331005.2:c.791A>T, NM_001331005.1:c.791A>T, NM_001331003.3:c.968A>T, NM_001331003.2:c.968A>T, NM_001331003.1:c.968A>T, NM_001330998.3:c.968A>T, NM_001330998.2:c.968A>T, NM_001330998.1:c.968A>T, NM_001331002.3:c.890A>T, NM_001331002.2:c.890A>T, NM_001331002.1:c.890A>T, NM_001105531.3:c.890A>T, NM_001105531.2:c.890A>T, NM_001331001.3:c.890A>T, NM_001331001.2:c.890A>T, NM_001331001.1:c.890A>T, NM_001330997.3:c.890A>T, NM_001330997.2:c.890A>T, NM_001330997.1:c.890A>T, NM_001331000.3:c.791A>T, NM_001331000.2:c.791A>T, NM_001331000.1:c.791A>T, NM_001331006.3:c.968A>T, NM_001331006.2:c.968A>T, NM_001331006.1:c.968A>T, NM_001330995.3:c.890A>T, NM_001330995.2:c.890A>T, NM_001330995.1:c.890A>T, NM_001351607.2:c.890A>T, NM_001351607.1:c.890A>T, NM_001351602.2:c.890A>T, NM_001351602.1:c.890A>T, NM_001351599.2:c.968A>T, NM_001351599.1:c.968A>T, NM_001351600.2:c.890A>T, NM_001351600.1:c.890A>T, NM_001351608.2:c.632A>T, NM_001351608.1:c.632A>T, NM_001351609.2:c.710A>T, NM_001351609.1:c.710A>T, XM_011535995.4:c.968A>T, XM_011535995.3:c.968A>T, XM_011535995.2:c.968A>T, XM_011535995.1:c.968A>T, XM_011535994.3:c.968A>T, XM_011535994.2:c.968A>T, XM_011535994.1:c.968A>T, XM_011535996.3:c.968A>T, XM_011535996.2:c.968A>T, XM_011535996.1:c.968A>T, XM_011535997.3:c.869A>T, XM_011535997.2:c.869A>T, XM_011535997.1:c.869A>T, XM_017011127.2:c.890A>T, XM_017011127.1:c.890A>T, XM_005248749.2:c.968A>T, XM_005248749.1:c.968A>T, XM_047419158.1:c.968A>T, XM_047419165.1:c.968A>T, XM_047419159.1:c.890A>T, XM_047419160.1:c.890A>T, XM_047419169.1:c.968A>T, XM_047419175.1:c.890A>T, XM_047419162.1:c.968A>T, XM_047419163.1:c.968A>T, XM_047419167.1:c.890A>T, XM_047419166.1:c.890A>T, XM_047419161.1:c.968A>T, XM_047419164.1:c.968A>T, XM_047419168.1:c.890A>T, XM_047419171.1:c.968A>T, XM_047419173.1:c.968A>T, XM_047419172.1:c.968A>T, XM_047419180.1:c.890A>T, XM_047419176.1:c.890A>T, XM_047419179.1:c.890A>T, XM_047419170.1:c.968A>T, XM_047419174.1:c.968A>T, XM_047419177.1:c.890A>T, XM_047419178.1:c.890A>T, NP_065870.3:p.Asp280Val, NP_001317928.1:p.Asp323Val, NP_001156001.1:p.Asp297Val, NP_001317925.1:p.Asp323Val, NP_001317934.1:p.Asp264Val, NP_001317932.1:p.Asp323Val, NP_001317927.1:p.Asp323Val, NP_001317931.1:p.Asp297Val, NP_001099001.1:p.Asp297Val, NP_001317930.1:p.Asp297Val, NP_001317926.1:p.Asp297Val, NP_001317929.1:p.Asp264Val, NP_001317935.1:p.Asp323Val, NP_001317924.1:p.Asp297Val, NP_001338536.1:p.Asp297Val, NP_001338531.1:p.Asp297Val, NP_001338528.1:p.Asp323Val, NP_001338529.1:p.Asp297Val, NP_001338537.1:p.Asp211Val, NP_001338538.1:p.Asp237Val, XP_011534297.1:p.Asp323Val, XP_011534296.1:p.Asp323Val, XP_011534298.1:p.Asp323Val, XP_011534299.1:p.Asp290Val, XP_016866616.1:p.Asp297Val, XP_005248806.1:p.Asp323Val, XP_047275114.1:p.Asp323Val, XP_047275121.1:p.Asp323Val, XP_047275115.1:p.Asp297Val, XP_047275116.1:p.Asp297Val, XP_047275125.1:p.Asp323Val, XP_047275131.1:p.Asp297Val, XP_047275118.1:p.Asp323Val, XP_047275119.1:p.Asp323Val, XP_047275123.1:p.Asp297Val, XP_047275122.1:p.Asp297Val, XP_047275117.1:p.Asp323Val, XP_047275120.1:p.Asp323Val, XP_047275124.1:p.Asp297Val, XP_047275127.1:p.Asp323Val, XP_047275129.1:p.Asp323Val, XP_047275128.1:p.Asp323Val, XP_047275136.1:p.Asp297Val, XP_047275132.1:p.Asp297Val, XP_047275135.1:p.Asp297Val, XP_047275126.1:p.Asp323Val, XP_047275130.1:p.Asp323Val, XP_047275133.1:p.Asp297Val, XP_047275134.1:p.Asp297Val

                                        20.

                                        rs1474431680 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          6:70525738 (GRCh38)
                                          6:71235441 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:70525737:C:A
                                          Gene:
                                          FAM135A (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.70525738C>A, NC_000006.11:g.71235441C>A, NG_054903.1:g.117335C>A, NM_020819.5:c.2015C>A, NM_020819.4:c.2015C>A, NM_001330999.3:c.2732C>A, NM_001330999.2:c.2732C>A, NM_001330999.1:c.2732C>A, NM_001162529.3:c.2654C>A, NM_001162529.2:c.2654C>A, NM_001162529.1:c.2654C>A, NM_001330996.3:c.2732C>A, NM_001330996.2:c.2732C>A, NM_001330996.1:c.2732C>A, NM_001331004.3:c.1379C>A, NM_001331004.2:c.1379C>A, NM_001331004.1:c.1379C>A, NM_001331005.3:c.2555C>A, NM_001331005.2:c.2555C>A, NM_001331005.1:c.2555C>A, NM_001331003.3:c.2144C>A, NM_001331003.2:c.2144C>A, NM_001331003.1:c.2144C>A, NM_001330998.3:c.2144C>A, NM_001330998.2:c.2144C>A, NM_001330998.1:c.2144C>A, NM_001331002.3:c.2066C>A, NM_001331002.2:c.2066C>A, NM_001331002.1:c.2066C>A, NM_001105531.3:c.2066C>A, NM_001105531.2:c.2066C>A, NM_001331001.3:c.2066C>A, NM_001331001.2:c.2066C>A, NM_001331001.1:c.2066C>A, NM_001330997.3:c.2066C>A, NM_001330997.2:c.2066C>A, NM_001330997.1:c.2066C>A, NM_001331000.3:c.1967C>A, NM_001331000.2:c.1967C>A, NM_001331000.1:c.1967C>A, NM_001351607.2:c.2654C>A, NM_001351607.1:c.2654C>A, NM_001351602.2:c.2654C>A, NM_001351602.1:c.2654C>A, NM_001351599.2:c.2732C>A, NM_001351599.1:c.2732C>A, NM_001351600.2:c.2654C>A, NM_001351600.1:c.2654C>A, NM_001351608.2:c.1808C>A, NM_001351608.1:c.1808C>A, XM_011535995.4:c.2732C>A, XM_011535995.3:c.2732C>A, XM_011535995.2:c.2732C>A, XM_011535995.1:c.2732C>A, XM_011535994.3:c.2732C>A, XM_011535994.2:c.2732C>A, XM_011535994.1:c.2732C>A, XM_011535996.3:c.2732C>A, XM_011535996.2:c.2732C>A, XM_011535996.1:c.2732C>A, XM_011535997.3:c.2633C>A, XM_011535997.2:c.2633C>A, XM_011535997.1:c.2633C>A, XM_017011127.2:c.2654C>A, XM_017011127.1:c.2654C>A, XM_047419158.1:c.2732C>A, XM_047419165.1:c.2144C>A, XM_047419159.1:c.2654C>A, XM_047419160.1:c.2654C>A, XM_047419162.1:c.2144C>A, XM_047419163.1:c.2144C>A, XM_047419167.1:c.2066C>A, XM_047419166.1:c.2066C>A, XM_047419161.1:c.2144C>A, XM_047419164.1:c.2144C>A, NP_065870.3:p.Thr672Asn, NP_001317928.1:p.Thr911Asn, NP_001156001.1:p.Thr885Asn, NP_001317925.1:p.Thr911Asn, NP_001317933.1:p.Thr460Asn, NP_001317934.1:p.Thr852Asn, NP_001317932.1:p.Thr715Asn, NP_001317927.1:p.Thr715Asn, NP_001317931.1:p.Thr689Asn, NP_001099001.1:p.Thr689Asn, NP_001317930.1:p.Thr689Asn, NP_001317926.1:p.Thr689Asn, NP_001317929.1:p.Thr656Asn, NP_001338536.1:p.Thr885Asn, NP_001338531.1:p.Thr885Asn, NP_001338528.1:p.Thr911Asn, NP_001338529.1:p.Thr885Asn, NP_001338537.1:p.Thr603Asn, XP_011534297.1:p.Thr911Asn, XP_011534296.1:p.Thr911Asn, XP_011534298.1:p.Thr911Asn, XP_011534299.1:p.Thr878Asn, XP_016866616.1:p.Thr885Asn, XP_047275114.1:p.Thr911Asn, XP_047275121.1:p.Thr715Asn, XP_047275115.1:p.Thr885Asn, XP_047275116.1:p.Thr885Asn, XP_047275118.1:p.Thr715Asn, XP_047275119.1:p.Thr715Asn, XP_047275123.1:p.Thr689Asn, XP_047275122.1:p.Thr689Asn, XP_047275117.1:p.Thr715Asn, XP_047275120.1:p.Thr715Asn

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