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Items: 1 to 20 of 763

1.

rs1488453185 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:51290087 (GRCh38)
    1:51755759 (GRCh37)
    Canonical SPDI:
    NC_000001.11:51290086:C:T
    Gene:
    TTC39A (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.51290087C>T, NC_000001.10:g.51755759C>T, XM_011541053.3:c.1435G>A, XM_011541053.2:c.1435G>A, XM_011541053.1:c.1435G>A, XM_011541049.3:c.1522G>A, XM_011541049.2:c.1522G>A, XM_011541049.1:c.1522G>A, XM_006710471.3:c.1507G>A, XM_006710471.2:c.1507G>A, XM_006710471.1:c.1507G>A, XM_011541051.3:c.1435G>A, XM_011541051.2:c.1435G>A, XM_011541051.1:c.1435G>A, XM_011541050.3:c.1516G>A, XM_011541048.3:c.1528G>A, XM_011541048.2:c.1528G>A, XM_011541048.1:c.1528G>A, XM_011541052.3:c.1435G>A, XM_011541052.2:c.1435G>A, XM_011541052.1:c.1435G>A, XM_005270644.3:c.1402G>A, XM_005270644.2:c.1402G>A, XM_005270644.1:c.1402G>A, NM_001080494.3:c.1414G>A, NM_001080494.2:c.1414G>A, XM_011541054.3:c.1330G>A, XM_011541054.2:c.1330G>A, XM_011541054.1:c.1330G>A, NM_001297663.2:c.1411G>A, NM_001297663.1:c.1411G>A, NM_001144832.2:c.1423G>A, NM_001144832.1:c.1423G>A, NM_001297665.1:c.1519G>A, XM_047449641.1:c.1465G>A, XM_047449631.1:c.1570G>A, XM_047449632.1:c.1435G>A, NM_001410793.1:c.1516G>A, NM_001297664.1:c.1330G>A, XM_047449644.1:c.1330G>A, NM_001297666.1:c.343G>A, NM_001297667.1:c.142G>A, XP_011539355.1:p.Val479Met, XP_011539351.1:p.Val508Met, XP_006710534.1:p.Val503Met, XP_011539353.1:p.Val479Met, XP_011539352.1:p.Val506Met, XP_011539350.1:p.Val510Met, XP_011539354.1:p.Val479Met, XP_005270701.1:p.Val468Met, NP_001073963.1:p.Val472Met, XP_011539356.1:p.Val444Met, NP_001284592.1:p.Val471Met, NP_001138304.1:p.Val475Met, NP_001284594.1:p.Val507Met, XP_047305597.1:p.Val489Met, XP_047305587.1:p.Val524Met, XP_047305588.1:p.Val479Met, NP_001284593.1:p.Val444Met, XP_047305600.1:p.Val444Met, NP_001284595.1:p.Val115Met, NP_001284596.1:p.Val48Met

    2.

    rs1487262469 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GATT>- [Show Flanks]
      Chromosome:
      1:51287492 (GRCh38)
      1:51753164 (GRCh37)
      Canonical SPDI:
      NC_000001.11:51287487:GATTGATT:GATT
      Gene:
      TTC39A (Varview)
      Functional Consequence:
      3_prime_UTR_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GATTGATT=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      -=0.000015/4 (TOPMED)
      HGVS:
      NC_000001.11:g.51287488GATT[1], NC_000001.10:g.51753160GATT[1], XM_011541053.3:c.*662AATC[1], XM_011541053.2:c.*662AATC[1], XM_011541053.1:c.*662AATC[1], XM_011541049.3:c.*662AATC[1], XM_011541049.2:c.*662AATC[1], XM_011541049.1:c.*662AATC[1], XM_006710471.3:c.*662AATC[1], XM_006710471.2:c.*662AATC[1], XM_006710471.1:c.*662AATC[1], XM_011541051.3:c.*662AATC[1], XM_011541051.2:c.*662AATC[1], XM_011541051.1:c.*662AATC[1], XM_011541050.3:c.*662AATC[1], XM_011541048.3:c.*662AATC[1], XM_011541048.2:c.*662AATC[1], XM_011541048.1:c.*662AATC[1], XM_011541052.3:c.*662AATC[1], XM_011541052.2:c.*662AATC[1], XM_011541052.1:c.*662AATC[1], XM_005270644.3:c.*662AATC[1], XM_005270644.2:c.*662AATC[1], XM_005270644.1:c.*662AATC[1], NM_001080494.3:c.*662AATC[1], NM_001080494.2:c.*662AATC[1], XM_011541054.3:c.*662AATC[1], XM_011541054.2:c.*662AATC[1], XM_011541054.1:c.*662AATC[1], NM_001297663.2:c.*662AATC[1], NM_001297663.1:c.*662AATC[1], NM_001144832.2:c.*662AATC[1], NM_001144832.1:c.*662AATC[1], NM_001297665.1:c.*662AATC[1], XM_047449641.1:c.*662AATC[1], XM_047449631.1:c.*662AATC[1], XM_047449632.1:c.*662AATC[1], NM_001410793.1:c.*662AATC[1], NM_001297664.1:c.*662AATC[1], XM_047449644.1:c.*662AATC[1], NM_001297666.1:c.*662AATC[1], NM_001297667.1:c.*662AATC[1]

      3.

      rs1484889005 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:51290589 (GRCh38)
        1:51756261 (GRCh37)
        Canonical SPDI:
        NC_000001.11:51290588:C:T
        Gene:
        TTC39A (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.51290589C>T, NC_000001.10:g.51756261C>T, XM_011541053.3:c.1327G>A, XM_011541053.2:c.1327G>A, XM_011541053.1:c.1327G>A, XM_011541049.3:c.1414G>A, XM_011541049.2:c.1414G>A, XM_011541049.1:c.1414G>A, XM_006710471.3:c.1399G>A, XM_006710471.2:c.1399G>A, XM_006710471.1:c.1399G>A, XM_011541051.3:c.1327G>A, XM_011541051.2:c.1327G>A, XM_011541051.1:c.1327G>A, XM_011541050.3:c.1408G>A, XM_011541048.3:c.1420G>A, XM_011541048.2:c.1420G>A, XM_011541048.1:c.1420G>A, XM_011541052.3:c.1327G>A, XM_011541052.2:c.1327G>A, XM_011541052.1:c.1327G>A, XM_005270644.3:c.1294G>A, XM_005270644.2:c.1294G>A, XM_005270644.1:c.1294G>A, NM_001080494.3:c.1306G>A, NM_001080494.2:c.1306G>A, XM_011541054.3:c.1222G>A, XM_011541054.2:c.1222G>A, XM_011541054.1:c.1222G>A, NM_001297663.2:c.1303G>A, NM_001297663.1:c.1303G>A, NM_001144832.2:c.1315G>A, NM_001144832.1:c.1315G>A, NM_001297665.1:c.1411G>A, XM_047449641.1:c.1357G>A, XM_047449631.1:c.1462G>A, XM_047449632.1:c.1327G>A, NM_001410793.1:c.1408G>A, NM_001297664.1:c.1222G>A, XM_047449644.1:c.1222G>A, NM_001297666.1:c.235G>A, NM_001297667.1:c.34G>A, XP_011539355.1:p.Gly443Arg, XP_011539351.1:p.Gly472Arg, XP_006710534.1:p.Gly467Arg, XP_011539353.1:p.Gly443Arg, XP_011539352.1:p.Gly470Arg, XP_011539350.1:p.Gly474Arg, XP_011539354.1:p.Gly443Arg, XP_005270701.1:p.Gly432Arg, NP_001073963.1:p.Gly436Arg, XP_011539356.1:p.Gly408Arg, NP_001284592.1:p.Gly435Arg, NP_001138304.1:p.Gly439Arg, NP_001284594.1:p.Gly471Arg, XP_047305597.1:p.Gly453Arg, XP_047305587.1:p.Gly488Arg, XP_047305588.1:p.Gly443Arg, NP_001284593.1:p.Gly408Arg, XP_047305600.1:p.Gly408Arg, NP_001284595.1:p.Gly79Arg, NP_001284596.1:p.Gly12Arg

        4.

        rs1483861710 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          1:51287746 (GRCh38)
          1:51753418 (GRCh37)
          Canonical SPDI:
          NC_000001.11:51287745:G:A,NC_000001.11:51287745:G:C
          Gene:
          TTC39A (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.51287746G>A, NC_000001.11:g.51287746G>C, NC_000001.10:g.51753418G>A, NC_000001.10:g.51753418G>C, XM_011541053.3:c.*411C>T, XM_011541053.3:c.*411C>G, XM_011541053.2:c.*411C>T, XM_011541053.2:c.*411C>G, XM_011541053.1:c.*411C>T, XM_011541053.1:c.*411C>G, XM_011541049.3:c.*411C>T, XM_011541049.3:c.*411C>G, XM_011541049.2:c.*411C>T, XM_011541049.2:c.*411C>G, XM_011541049.1:c.*411C>T, XM_011541049.1:c.*411C>G, XM_006710471.3:c.*411C>T, XM_006710471.3:c.*411C>G, XM_006710471.2:c.*411C>T, XM_006710471.2:c.*411C>G, XM_006710471.1:c.*411C>T, XM_006710471.1:c.*411C>G, XM_011541051.3:c.*411C>T, XM_011541051.3:c.*411C>G, XM_011541051.2:c.*411C>T, XM_011541051.2:c.*411C>G, XM_011541051.1:c.*411C>T, XM_011541051.1:c.*411C>G, XM_011541050.3:c.*411C>T, XM_011541050.3:c.*411C>G, XM_011541048.3:c.*411C>T, XM_011541048.3:c.*411C>G, XM_011541048.2:c.*411C>T, XM_011541048.2:c.*411C>G, XM_011541048.1:c.*411C>T, XM_011541048.1:c.*411C>G, XM_011541052.3:c.*411C>T, XM_011541052.3:c.*411C>G, XM_011541052.2:c.*411C>T, XM_011541052.2:c.*411C>G, XM_011541052.1:c.*411C>T, XM_011541052.1:c.*411C>G, XM_005270644.3:c.*411C>T, XM_005270644.3:c.*411C>G, XM_005270644.2:c.*411C>T, XM_005270644.2:c.*411C>G, XM_005270644.1:c.*411C>T, XM_005270644.1:c.*411C>G, NM_001080494.3:c.*411C>T, NM_001080494.3:c.*411C>G, NM_001080494.2:c.*411C>T, NM_001080494.2:c.*411C>G, XM_011541054.3:c.*411C>T, XM_011541054.3:c.*411C>G, XM_011541054.2:c.*411C>T, XM_011541054.2:c.*411C>G, XM_011541054.1:c.*411C>T, XM_011541054.1:c.*411C>G, NM_001297663.2:c.*411C>T, NM_001297663.2:c.*411C>G, NM_001297663.1:c.*411C>T, NM_001297663.1:c.*411C>G, NM_001144832.2:c.*411C>T, NM_001144832.2:c.*411C>G, NM_001144832.1:c.*411C>T, NM_001144832.1:c.*411C>G, NM_001297665.1:c.*411C>T, NM_001297665.1:c.*411C>G, XM_047449641.1:c.*411C>T, XM_047449641.1:c.*411C>G, XM_047449631.1:c.*411C>T, XM_047449631.1:c.*411C>G, XM_047449632.1:c.*411C>T, XM_047449632.1:c.*411C>G, NM_001410793.1:c.*411C>T, NM_001410793.1:c.*411C>G, NM_001297664.1:c.*411C>T, NM_001297664.1:c.*411C>G, XM_047449644.1:c.*411C>T, XM_047449644.1:c.*411C>G, NM_001297666.1:c.*411C>T, NM_001297666.1:c.*411C>G, NM_001297667.1:c.*411C>T, NM_001297667.1:c.*411C>G

          5.

          rs1482492674 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:51296115 (GRCh38)
            1:51761787 (GRCh37)
            Canonical SPDI:
            NC_000001.11:51296114:T:G
            Gene:
            TTC39A (Varview), LOC124904177 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            HGVS:
            NC_000001.11:g.51296115T>G, NC_000001.10:g.51761787T>G, XM_011541053.3:c.1133A>C, XM_011541053.2:c.1133A>C, XM_011541053.1:c.1133A>C, XM_011541049.3:c.1220A>C, XM_011541049.2:c.1220A>C, XM_011541049.1:c.1220A>C, XM_006710471.3:c.1205A>C, XM_006710471.2:c.1205A>C, XM_006710471.1:c.1205A>C, XM_011541051.3:c.1133A>C, XM_011541051.2:c.1133A>C, XM_011541051.1:c.1133A>C, XM_011541050.3:c.1214A>C, XM_011541048.3:c.1226A>C, XM_011541048.2:c.1226A>C, XM_011541048.1:c.1226A>C, XM_011541052.3:c.1133A>C, XM_011541052.2:c.1133A>C, XM_011541052.1:c.1133A>C, XM_005270644.3:c.1100A>C, XM_005270644.2:c.1100A>C, XM_005270644.1:c.1100A>C, NM_001080494.3:c.1112A>C, NM_001080494.2:c.1112A>C, XM_011541054.3:c.1028A>C, XM_011541054.2:c.1028A>C, XM_011541054.1:c.1028A>C, NM_001297663.2:c.1109A>C, NM_001297663.1:c.1109A>C, NM_001144832.2:c.1121A>C, NM_001144832.1:c.1121A>C, NM_001297662.2:c.1214A>C, NM_001297662.1:c.1214A>C, NM_001297665.1:c.1217A>C, XM_047449641.1:c.1163A>C, XM_047449631.1:c.1268A>C, XM_047449632.1:c.1133A>C, NM_001410793.1:c.1214A>C, NM_001297664.1:c.1028A>C, XM_047449644.1:c.1028A>C, NM_001297666.1:c.41A>C, XP_011539355.1:p.His378Pro, XP_011539351.1:p.His407Pro, XP_006710534.1:p.His402Pro, XP_011539353.1:p.His378Pro, XP_011539352.1:p.His405Pro, XP_011539350.1:p.His409Pro, XP_011539354.1:p.His378Pro, XP_005270701.1:p.His367Pro, NP_001073963.1:p.His371Pro, XP_011539356.1:p.His343Pro, NP_001284592.1:p.His370Pro, NP_001138304.1:p.His374Pro, NP_001284591.1:p.His405Pro, NP_001284594.1:p.His406Pro, XP_047305597.1:p.His388Pro, XP_047305587.1:p.His423Pro, XP_047305588.1:p.His378Pro, NP_001284593.1:p.His343Pro, XP_047305600.1:p.His343Pro, NP_001284595.1:p.His14Pro

            6.

            rs1482111597 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:51302365 (GRCh38)
              1:51768037 (GRCh37)
              Canonical SPDI:
              NC_000001.11:51302364:T:C
              Gene:
              TTC39A (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              C=0.000343/1 (KOREAN)
              HGVS:
              NC_000001.11:g.51302365T>C, NC_000001.10:g.51768037T>C, XM_011541053.3:c.907A>G, XM_011541053.2:c.907A>G, XM_011541053.1:c.907A>G, XM_011541049.3:c.994A>G, XM_011541049.2:c.994A>G, XM_011541049.1:c.994A>G, XM_006710471.3:c.979A>G, XM_006710471.2:c.979A>G, XM_006710471.1:c.979A>G, XM_011541051.3:c.907A>G, XM_011541051.2:c.907A>G, XM_011541051.1:c.907A>G, XM_011541050.3:c.988A>G, XM_011541048.3:c.1000A>G, XM_011541048.2:c.1000A>G, XM_011541048.1:c.1000A>G, XM_011541052.3:c.907A>G, XM_011541052.2:c.907A>G, XM_011541052.1:c.907A>G, XM_005270644.3:c.874A>G, XM_005270644.2:c.874A>G, XM_005270644.1:c.874A>G, NM_001080494.3:c.886A>G, NM_001080494.2:c.886A>G, XM_011541054.3:c.802A>G, XM_011541054.2:c.802A>G, XM_011541054.1:c.802A>G, NM_001297663.2:c.883A>G, NM_001297663.1:c.883A>G, NM_001144832.2:c.895A>G, NM_001144832.1:c.895A>G, NM_001297662.2:c.988A>G, NM_001297662.1:c.988A>G, NM_001297665.1:c.991A>G, XM_047449641.1:c.937A>G, XM_047449631.1:c.1042A>G, XM_047449632.1:c.907A>G, NM_001410793.1:c.988A>G, NM_001297664.1:c.802A>G, XM_047449644.1:c.802A>G, XP_011539355.1:p.Ile303Val, XP_011539351.1:p.Ile332Val, XP_006710534.1:p.Ile327Val, XP_011539353.1:p.Ile303Val, XP_011539352.1:p.Ile330Val, XP_011539350.1:p.Ile334Val, XP_011539354.1:p.Ile303Val, XP_005270701.1:p.Ile292Val, NP_001073963.1:p.Ile296Val, XP_011539356.1:p.Ile268Val, NP_001284592.1:p.Ile295Val, NP_001138304.1:p.Ile299Val, NP_001284591.1:p.Ile330Val, NP_001284594.1:p.Ile331Val, XP_047305597.1:p.Ile313Val, XP_047305587.1:p.Ile348Val, XP_047305588.1:p.Ile303Val, NP_001284593.1:p.Ile268Val, XP_047305600.1:p.Ile268Val

              7.

              rs1481992357 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:51290105 (GRCh38)
                1:51755777 (GRCh37)
                Canonical SPDI:
                NC_000001.11:51290104:C:T
                Gene:
                TTC39A (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.51290105C>T, NC_000001.10:g.51755777C>T, XM_011541053.3:c.1417G>A, XM_011541053.2:c.1417G>A, XM_011541053.1:c.1417G>A, XM_011541049.3:c.1504G>A, XM_011541049.2:c.1504G>A, XM_011541049.1:c.1504G>A, XM_006710471.3:c.1489G>A, XM_006710471.2:c.1489G>A, XM_006710471.1:c.1489G>A, XM_011541051.3:c.1417G>A, XM_011541051.2:c.1417G>A, XM_011541051.1:c.1417G>A, XM_011541050.3:c.1498G>A, XM_011541048.3:c.1510G>A, XM_011541048.2:c.1510G>A, XM_011541048.1:c.1510G>A, XM_011541052.3:c.1417G>A, XM_011541052.2:c.1417G>A, XM_011541052.1:c.1417G>A, XM_005270644.3:c.1384G>A, XM_005270644.2:c.1384G>A, XM_005270644.1:c.1384G>A, NM_001080494.3:c.1396G>A, NM_001080494.2:c.1396G>A, XM_011541054.3:c.1312G>A, XM_011541054.2:c.1312G>A, XM_011541054.1:c.1312G>A, NM_001297663.2:c.1393G>A, NM_001297663.1:c.1393G>A, NM_001144832.2:c.1405G>A, NM_001144832.1:c.1405G>A, NM_001297665.1:c.1501G>A, XM_047449641.1:c.1447G>A, XM_047449631.1:c.1552G>A, XM_047449632.1:c.1417G>A, NM_001410793.1:c.1498G>A, NM_001297664.1:c.1312G>A, XM_047449644.1:c.1312G>A, NM_001297666.1:c.325G>A, NM_001297667.1:c.124G>A, XP_011539355.1:p.Val473Met, XP_011539351.1:p.Val502Met, XP_006710534.1:p.Val497Met, XP_011539353.1:p.Val473Met, XP_011539352.1:p.Val500Met, XP_011539350.1:p.Val504Met, XP_011539354.1:p.Val473Met, XP_005270701.1:p.Val462Met, NP_001073963.1:p.Val466Met, XP_011539356.1:p.Val438Met, NP_001284592.1:p.Val465Met, NP_001138304.1:p.Val469Met, NP_001284594.1:p.Val501Met, XP_047305597.1:p.Val483Met, XP_047305587.1:p.Val518Met, XP_047305588.1:p.Val473Met, NP_001284593.1:p.Val438Met, XP_047305600.1:p.Val438Met, NP_001284595.1:p.Val109Met, NP_001284596.1:p.Val42Met

                8.

                rs1481483145 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  1:51287268 (GRCh38)
                  1:51752940 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:51287266:ACA:A
                  Gene:
                  TTC39A (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000001.11:g.51287268_51287269del, NC_000001.10:g.51752940_51752941del, XM_011541053.3:c.*889_*890del, XM_011541053.1:c.*889_*890del, XM_011541049.3:c.*889_*890del, XM_011541049.1:c.*889_*890del, XM_006710471.3:c.*889_*890del, XM_006710471.1:c.*889_*890del, XM_011541051.3:c.*889_*890del, XM_011541051.1:c.*889_*890del, XM_011541050.3:c.*889_*890del, XM_011541048.3:c.*889_*890del, XM_011541048.1:c.*889_*890del, XM_011541052.3:c.*889_*890del, XM_011541052.1:c.*889_*890del, XM_005270644.3:c.*889_*890del, XM_005270644.1:c.*889_*890del, NM_001080494.3:c.*889_*890del, NM_001080494.2:c.*889_*890del, XM_011541054.3:c.*889_*890del, XM_011541054.1:c.*889_*890del, NM_001297663.2:c.*889_*890del, NM_001297663.1:c.*889_*890del, NM_001144832.2:c.*889_*890del, NM_001144832.1:c.*889_*890del, NM_001297665.1:c.*889_*890del, XM_047449641.1:c.*889_*890del, XM_047449631.1:c.*889_*890del, XM_047449632.1:c.*889_*890del, NM_001410793.1:c.*889_*890del, NM_001297664.1:c.*889_*890del, XM_047449644.1:c.*889_*890del, NM_001297666.1:c.*889_*890del, NM_001297667.1:c.*889_*890del

                  9.

                  rs1481456117 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:51303120 (GRCh38)
                    1:51768792 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:51303119:G:C
                    Gene:
                    TTC39A (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.51303120G>C, NC_000001.10:g.51768792G>C, XM_011541053.3:c.751C>G, XM_011541053.2:c.751C>G, XM_011541053.1:c.751C>G, XM_011541049.3:c.838C>G, XM_011541049.2:c.838C>G, XM_011541049.1:c.838C>G, XM_006710471.3:c.823C>G, XM_006710471.2:c.823C>G, XM_006710471.1:c.823C>G, XM_011541051.3:c.751C>G, XM_011541051.2:c.751C>G, XM_011541051.1:c.751C>G, XM_011541050.3:c.832C>G, XM_011541048.3:c.844C>G, XM_011541048.2:c.844C>G, XM_011541048.1:c.844C>G, XM_011541052.3:c.751C>G, XM_011541052.2:c.751C>G, XM_011541052.1:c.751C>G, XM_005270644.3:c.718C>G, XM_005270644.2:c.718C>G, XM_005270644.1:c.718C>G, NM_001080494.3:c.730C>G, NM_001080494.2:c.730C>G, XM_011541054.3:c.646C>G, XM_011541054.2:c.646C>G, XM_011541054.1:c.646C>G, NM_001297663.2:c.727C>G, NM_001297663.1:c.727C>G, NM_001144832.2:c.739C>G, NM_001144832.1:c.739C>G, NM_001297662.2:c.832C>G, NM_001297662.1:c.832C>G, NM_001297665.1:c.835C>G, XM_047449641.1:c.781C>G, XM_047449631.1:c.886C>G, XM_047449632.1:c.751C>G, NM_001410793.1:c.832C>G, NM_001297664.1:c.646C>G, XM_047449644.1:c.646C>G, XP_011539355.1:p.Leu251Val, XP_011539351.1:p.Leu280Val, XP_006710534.1:p.Leu275Val, XP_011539353.1:p.Leu251Val, XP_011539352.1:p.Leu278Val, XP_011539350.1:p.Leu282Val, XP_011539354.1:p.Leu251Val, XP_005270701.1:p.Leu240Val, NP_001073963.1:p.Leu244Val, XP_011539356.1:p.Leu216Val, NP_001284592.1:p.Leu243Val, NP_001138304.1:p.Leu247Val, NP_001284591.1:p.Leu278Val, NP_001284594.1:p.Leu279Val, XP_047305597.1:p.Leu261Val, XP_047305587.1:p.Leu296Val, XP_047305588.1:p.Leu251Val, NP_001284593.1:p.Leu216Val, XP_047305600.1:p.Leu216Val

                    10.

                    rs1481390894 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:51287355 (GRCh38)
                      1:51753027 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:51287354:G:A
                      Gene:
                      TTC39A (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.51287355G>A, NC_000001.10:g.51753027G>A, XM_011541053.3:c.*802C>T, XM_011541053.2:c.*802C>T, XM_011541053.1:c.*802C>T, XM_011541049.3:c.*802C>T, XM_011541049.2:c.*802C>T, XM_011541049.1:c.*802C>T, XM_006710471.3:c.*802C>T, XM_006710471.2:c.*802C>T, XM_006710471.1:c.*802C>T, XM_011541051.3:c.*802C>T, XM_011541051.2:c.*802C>T, XM_011541051.1:c.*802C>T, XM_011541050.3:c.*802C>T, XM_011541048.3:c.*802C>T, XM_011541048.2:c.*802C>T, XM_011541048.1:c.*802C>T, XM_011541052.3:c.*802C>T, XM_011541052.2:c.*802C>T, XM_011541052.1:c.*802C>T, XM_005270644.3:c.*802C>T, XM_005270644.2:c.*802C>T, XM_005270644.1:c.*802C>T, NM_001080494.3:c.*802C>T, NM_001080494.2:c.*802C>T, XM_011541054.3:c.*802C>T, XM_011541054.2:c.*802C>T, XM_011541054.1:c.*802C>T, NM_001297663.2:c.*802C>T, NM_001297663.1:c.*802C>T, NM_001144832.2:c.*802C>T, NM_001144832.1:c.*802C>T, NM_001297665.1:c.*802C>T, XM_047449641.1:c.*802C>T, XM_047449631.1:c.*802C>T, XM_047449632.1:c.*802C>T, NM_001410793.1:c.*802C>T, NM_001297664.1:c.*802C>T, XM_047449644.1:c.*802C>T, NM_001297666.1:c.*802C>T, NM_001297667.1:c.*802C>T

                      11.

                      rs1481027101 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTAC>- [Show Flanks]
                        Chromosome:
                        1:51287800 (GRCh38)
                        1:51753472 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:51287797:ACTTAC:AC
                        Gene:
                        TTC39A (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AC=0./0 (ALFA)
                        -=0.000015/4 (TOPMED)
                        -=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000001.11:g.51287800_51287803del, NC_000001.10:g.51753472_51753475del, XM_011541053.3:c.*356_*359del, XM_011541053.2:c.*356_*359del, XM_011541053.1:c.*356_*359del, XM_011541049.3:c.*356_*359del, XM_011541049.2:c.*356_*359del, XM_011541049.1:c.*356_*359del, XM_006710471.3:c.*356_*359del, XM_006710471.2:c.*356_*359del, XM_006710471.1:c.*356_*359del, XM_011541051.3:c.*356_*359del, XM_011541051.2:c.*356_*359del, XM_011541051.1:c.*356_*359del, XM_011541050.3:c.*356_*359del, XM_011541048.3:c.*356_*359del, XM_011541048.2:c.*356_*359del, XM_011541048.1:c.*356_*359del, XM_011541052.3:c.*356_*359del, XM_011541052.2:c.*356_*359del, XM_011541052.1:c.*356_*359del, XM_005270644.3:c.*356_*359del, XM_005270644.2:c.*356_*359del, XM_005270644.1:c.*356_*359del, NM_001080494.3:c.*356_*359del, NM_001080494.2:c.*356_*359del, XM_011541054.3:c.*356_*359del, XM_011541054.2:c.*356_*359del, XM_011541054.1:c.*356_*359del, NM_001297663.2:c.*356_*359del, NM_001297663.1:c.*356_*359del, NM_001144832.2:c.*356_*359del, NM_001144832.1:c.*356_*359del, NM_001297665.1:c.*356_*359del, XM_047449641.1:c.*356_*359del, XM_047449631.1:c.*356_*359del, XM_047449632.1:c.*356_*359del, NM_001410793.1:c.*356_*359del, NM_001297664.1:c.*356_*359del, XM_047449644.1:c.*356_*359del, NM_001297666.1:c.*356_*359del, NM_001297667.1:c.*356_*359del

                        12.

                        rs1477925982 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          1:51303144 (GRCh38)
                          1:51768816 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:51303143:G:A,NC_000001.11:51303143:G:C
                          Gene:
                          TTC39A (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          C=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.51303144G>A, NC_000001.11:g.51303144G>C, NC_000001.10:g.51768816G>A, NC_000001.10:g.51768816G>C, XM_011541053.3:c.727C>T, XM_011541053.3:c.727C>G, XM_011541053.2:c.727C>T, XM_011541053.2:c.727C>G, XM_011541053.1:c.727C>T, XM_011541053.1:c.727C>G, XM_011541049.3:c.814C>T, XM_011541049.3:c.814C>G, XM_011541049.2:c.814C>T, XM_011541049.2:c.814C>G, XM_011541049.1:c.814C>T, XM_011541049.1:c.814C>G, XM_006710471.3:c.799C>T, XM_006710471.3:c.799C>G, XM_006710471.2:c.799C>T, XM_006710471.2:c.799C>G, XM_006710471.1:c.799C>T, XM_006710471.1:c.799C>G, XM_011541051.3:c.727C>T, XM_011541051.3:c.727C>G, XM_011541051.2:c.727C>T, XM_011541051.2:c.727C>G, XM_011541051.1:c.727C>T, XM_011541051.1:c.727C>G, XM_011541050.3:c.808C>T, XM_011541050.3:c.808C>G, XM_011541048.3:c.820C>T, XM_011541048.3:c.820C>G, XM_011541048.2:c.820C>T, XM_011541048.2:c.820C>G, XM_011541048.1:c.820C>T, XM_011541048.1:c.820C>G, XM_011541052.3:c.727C>T, XM_011541052.3:c.727C>G, XM_011541052.2:c.727C>T, XM_011541052.2:c.727C>G, XM_011541052.1:c.727C>T, XM_011541052.1:c.727C>G, XM_005270644.3:c.694C>T, XM_005270644.3:c.694C>G, XM_005270644.2:c.694C>T, XM_005270644.2:c.694C>G, XM_005270644.1:c.694C>T, XM_005270644.1:c.694C>G, NM_001080494.3:c.706C>T, NM_001080494.3:c.706C>G, NM_001080494.2:c.706C>T, NM_001080494.2:c.706C>G, XM_011541054.3:c.622C>T, XM_011541054.3:c.622C>G, XM_011541054.2:c.622C>T, XM_011541054.2:c.622C>G, XM_011541054.1:c.622C>T, XM_011541054.1:c.622C>G, NM_001297663.2:c.703C>T, NM_001297663.2:c.703C>G, NM_001297663.1:c.703C>T, NM_001297663.1:c.703C>G, NM_001144832.2:c.715C>T, NM_001144832.2:c.715C>G, NM_001144832.1:c.715C>T, NM_001144832.1:c.715C>G, NM_001297662.2:c.808C>T, NM_001297662.2:c.808C>G, NM_001297662.1:c.808C>T, NM_001297662.1:c.808C>G, NM_001297665.1:c.811C>T, NM_001297665.1:c.811C>G, XM_047449641.1:c.757C>T, XM_047449641.1:c.757C>G, XM_047449631.1:c.862C>T, XM_047449631.1:c.862C>G, XM_047449632.1:c.727C>T, XM_047449632.1:c.727C>G, NM_001410793.1:c.808C>T, NM_001410793.1:c.808C>G, NM_001297664.1:c.622C>T, NM_001297664.1:c.622C>G, XM_047449644.1:c.622C>T, XM_047449644.1:c.622C>G, XP_011539355.1:p.Arg243Cys, XP_011539355.1:p.Arg243Gly, XP_011539351.1:p.Arg272Cys, XP_011539351.1:p.Arg272Gly, XP_006710534.1:p.Arg267Cys, XP_006710534.1:p.Arg267Gly, XP_011539353.1:p.Arg243Cys, XP_011539353.1:p.Arg243Gly, XP_011539352.1:p.Arg270Cys, XP_011539352.1:p.Arg270Gly, XP_011539350.1:p.Arg274Cys, XP_011539350.1:p.Arg274Gly, XP_011539354.1:p.Arg243Cys, XP_011539354.1:p.Arg243Gly, XP_005270701.1:p.Arg232Cys, XP_005270701.1:p.Arg232Gly, NP_001073963.1:p.Arg236Cys, NP_001073963.1:p.Arg236Gly, XP_011539356.1:p.Arg208Cys, XP_011539356.1:p.Arg208Gly, NP_001284592.1:p.Arg235Cys, NP_001284592.1:p.Arg235Gly, NP_001138304.1:p.Arg239Cys, NP_001138304.1:p.Arg239Gly, NP_001284591.1:p.Arg270Cys, NP_001284591.1:p.Arg270Gly, NP_001284594.1:p.Arg271Cys, NP_001284594.1:p.Arg271Gly, XP_047305597.1:p.Arg253Cys, XP_047305597.1:p.Arg253Gly, XP_047305587.1:p.Arg288Cys, XP_047305587.1:p.Arg288Gly, XP_047305588.1:p.Arg243Cys, XP_047305588.1:p.Arg243Gly, NP_001284593.1:p.Arg208Cys, NP_001284593.1:p.Arg208Gly, XP_047305600.1:p.Arg208Cys, XP_047305600.1:p.Arg208Gly

                          13.

                          rs1476746877 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:51287974 (GRCh38)
                            1:51753646 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:51287973:C:T
                            Gene:
                            TTC39A (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000001.11:g.51287974C>T, NC_000001.10:g.51753646C>T, XM_011541053.3:c.*183G>A, XM_011541053.2:c.*183G>A, XM_011541053.1:c.*183G>A, XM_011541049.3:c.*183G>A, XM_011541049.2:c.*183G>A, XM_011541049.1:c.*183G>A, XM_006710471.3:c.*183G>A, XM_006710471.2:c.*183G>A, XM_006710471.1:c.*183G>A, XM_011541051.3:c.*183G>A, XM_011541051.2:c.*183G>A, XM_011541051.1:c.*183G>A, XM_011541050.3:c.*183G>A, XM_011541048.3:c.*183G>A, XM_011541048.2:c.*183G>A, XM_011541048.1:c.*183G>A, XM_011541052.3:c.*183G>A, XM_011541052.2:c.*183G>A, XM_011541052.1:c.*183G>A, XM_005270644.3:c.*183G>A, XM_005270644.2:c.*183G>A, XM_005270644.1:c.*183G>A, NM_001080494.3:c.*183G>A, NM_001080494.2:c.*183G>A, XM_011541054.3:c.*183G>A, XM_011541054.2:c.*183G>A, XM_011541054.1:c.*183G>A, NM_001297663.2:c.*183G>A, NM_001297663.1:c.*183G>A, NM_001144832.2:c.*183G>A, NM_001144832.1:c.*183G>A, NM_001297665.1:c.*183G>A, XM_047449641.1:c.*183G>A, XM_047449631.1:c.*183G>A, XM_047449632.1:c.*183G>A, NM_001410793.1:c.*183G>A, NM_001297664.1:c.*183G>A, XM_047449644.1:c.*183G>A, NM_001297666.1:c.*183G>A, NM_001297667.1:c.*183G>A

                            14.

                            rs1476592375 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:51287778 (GRCh38)
                              1:51753450 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:51287777:G:A
                              Gene:
                              TTC39A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000001.11:g.51287778G>A, NC_000001.10:g.51753450G>A, XM_011541053.3:c.*379C>T, XM_011541053.2:c.*379C>T, XM_011541053.1:c.*379C>T, XM_011541049.3:c.*379C>T, XM_011541049.2:c.*379C>T, XM_011541049.1:c.*379C>T, XM_006710471.3:c.*379C>T, XM_006710471.2:c.*379C>T, XM_006710471.1:c.*379C>T, XM_011541051.3:c.*379C>T, XM_011541051.2:c.*379C>T, XM_011541051.1:c.*379C>T, XM_011541050.3:c.*379C>T, XM_011541048.3:c.*379C>T, XM_011541048.2:c.*379C>T, XM_011541048.1:c.*379C>T, XM_011541052.3:c.*379C>T, XM_011541052.2:c.*379C>T, XM_011541052.1:c.*379C>T, XM_005270644.3:c.*379C>T, XM_005270644.2:c.*379C>T, XM_005270644.1:c.*379C>T, NM_001080494.3:c.*379C>T, NM_001080494.2:c.*379C>T, XM_011541054.3:c.*379C>T, XM_011541054.2:c.*379C>T, XM_011541054.1:c.*379C>T, NM_001297663.2:c.*379C>T, NM_001297663.1:c.*379C>T, NM_001144832.2:c.*379C>T, NM_001144832.1:c.*379C>T, NM_001297665.1:c.*379C>T, XM_047449641.1:c.*379C>T, XM_047449631.1:c.*379C>T, XM_047449632.1:c.*379C>T, NM_001410793.1:c.*379C>T, NM_001297664.1:c.*379C>T, XM_047449644.1:c.*379C>T, NM_001297666.1:c.*379C>T, NM_001297667.1:c.*379C>T

                              15.

                              rs1476061129 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:51322149 (GRCh38)
                                1:51787821 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:51322148:C:T
                                Gene:
                                TTC39A (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                HGVS:

                                16.

                                rs1473271914 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:51301679 (GRCh38)
                                  1:51767351 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:51301678:G:A
                                  Gene:
                                  TTC39A (Varview), LOC124904177 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.51301679G>A, NC_000001.10:g.51767351G>A, XM_011541053.3:c.970C>T, XM_011541053.2:c.970C>T, XM_011541053.1:c.970C>T, XM_011541049.3:c.1057C>T, XM_011541049.2:c.1057C>T, XM_011541049.1:c.1057C>T, XM_006710471.3:c.1042C>T, XM_006710471.2:c.1042C>T, XM_006710471.1:c.1042C>T, XM_011541051.3:c.970C>T, XM_011541051.2:c.970C>T, XM_011541051.1:c.970C>T, XM_011541050.3:c.1051C>T, XM_011541048.3:c.1063C>T, XM_011541048.2:c.1063C>T, XM_011541048.1:c.1063C>T, XM_011541052.3:c.970C>T, XM_011541052.2:c.970C>T, XM_011541052.1:c.970C>T, XM_005270644.3:c.937C>T, XM_005270644.2:c.937C>T, XM_005270644.1:c.937C>T, NM_001080494.3:c.949C>T, NM_001080494.2:c.949C>T, XM_011541054.3:c.865C>T, XM_011541054.2:c.865C>T, XM_011541054.1:c.865C>T, NM_001297663.2:c.946C>T, NM_001297663.1:c.946C>T, NM_001144832.2:c.958C>T, NM_001144832.1:c.958C>T, NM_001297662.2:c.1051C>T, NM_001297662.1:c.1051C>T, NM_001297665.1:c.1054C>T, XM_047449641.1:c.1000C>T, XM_047449631.1:c.1105C>T, XM_047449632.1:c.970C>T, NM_001410793.1:c.1051C>T, NM_001297664.1:c.865C>T, XM_047449644.1:c.865C>T, XP_011539355.1:p.His324Tyr, XP_011539351.1:p.His353Tyr, XP_006710534.1:p.His348Tyr, XP_011539353.1:p.His324Tyr, XP_011539352.1:p.His351Tyr, XP_011539350.1:p.His355Tyr, XP_011539354.1:p.His324Tyr, XP_005270701.1:p.His313Tyr, NP_001073963.1:p.His317Tyr, XP_011539356.1:p.His289Tyr, NP_001284592.1:p.His316Tyr, NP_001138304.1:p.His320Tyr, NP_001284591.1:p.His351Tyr, NP_001284594.1:p.His352Tyr, XP_047305597.1:p.His334Tyr, XP_047305587.1:p.His369Tyr, XP_047305588.1:p.His324Tyr, NP_001284593.1:p.His289Tyr, XP_047305600.1:p.His289Tyr

                                  17.

                                  rs1470966275 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    1:51288076 (GRCh38)
                                    1:51753749 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:51288076:GGGGG:GGGGGG
                                    Gene:
                                    TTC39A (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GGGGGG=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.51288081dup, NC_000001.10:g.51753753dup, XM_011541053.3:c.*80dup, XM_011541053.2:c.*80dup, XM_011541053.1:c.*80dup, XM_011541049.3:c.*80dup, XM_011541049.2:c.*80dup, XM_011541049.1:c.*80dup, XM_006710471.3:c.*80dup, XM_006710471.2:c.*80dup, XM_006710471.1:c.*80dup, XM_011541051.3:c.*80dup, XM_011541051.2:c.*80dup, XM_011541051.1:c.*80dup, XM_011541050.3:c.*80dup, XM_011541048.3:c.*80dup, XM_011541048.2:c.*80dup, XM_011541048.1:c.*80dup, XM_011541052.3:c.*80dup, XM_011541052.2:c.*80dup, XM_011541052.1:c.*80dup, XM_005270644.3:c.*80dup, XM_005270644.2:c.*80dup, XM_005270644.1:c.*80dup, NM_001080494.3:c.*80dup, NM_001080494.2:c.*80dup, XM_011541054.3:c.*80dup, XM_011541054.2:c.*80dup, XM_011541054.1:c.*80dup, NM_001297663.2:c.*80dup, NM_001297663.1:c.*80dup, NM_001144832.2:c.*80dup, NM_001144832.1:c.*80dup, NM_001297665.1:c.*80dup, XM_047449641.1:c.*80dup, XM_047449631.1:c.*80dup, XM_047449632.1:c.*80dup, NM_001410793.1:c.*80dup, NM_001297664.1:c.*80dup, XM_047449644.1:c.*80dup, NM_001297666.1:c.*80dup, NM_001297667.1:c.*80dup

                                    18.

                                    rs1470286085 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:51296143 (GRCh38)
                                      1:51761815 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:51296142:A:G
                                      Gene:
                                      TTC39A (Varview), LOC124904177 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.51296143A>G, NC_000001.10:g.51761815A>G, XM_011541053.3:c.1105T>C, XM_011541053.2:c.1105T>C, XM_011541053.1:c.1105T>C, XM_011541049.3:c.1192T>C, XM_011541049.2:c.1192T>C, XM_011541049.1:c.1192T>C, XM_006710471.3:c.1177T>C, XM_006710471.2:c.1177T>C, XM_006710471.1:c.1177T>C, XM_011541051.3:c.1105T>C, XM_011541051.2:c.1105T>C, XM_011541051.1:c.1105T>C, XM_011541050.3:c.1186T>C, XM_011541048.3:c.1198T>C, XM_011541048.2:c.1198T>C, XM_011541048.1:c.1198T>C, XM_011541052.3:c.1105T>C, XM_011541052.2:c.1105T>C, XM_011541052.1:c.1105T>C, XM_005270644.3:c.1072T>C, XM_005270644.2:c.1072T>C, XM_005270644.1:c.1072T>C, NM_001080494.3:c.1084T>C, NM_001080494.2:c.1084T>C, XM_011541054.3:c.1000T>C, XM_011541054.2:c.1000T>C, XM_011541054.1:c.1000T>C, NM_001297663.2:c.1081T>C, NM_001297663.1:c.1081T>C, NM_001144832.2:c.1093T>C, NM_001144832.1:c.1093T>C, NM_001297662.2:c.1186T>C, NM_001297662.1:c.1186T>C, NM_001297665.1:c.1189T>C, XM_047449641.1:c.1135T>C, XM_047449631.1:c.1240T>C, XM_047449632.1:c.1105T>C, NM_001410793.1:c.1186T>C, NM_001297664.1:c.1000T>C, XM_047449644.1:c.1000T>C, NM_001297666.1:c.13T>C, XP_011539355.1:p.Tyr369His, XP_011539351.1:p.Tyr398His, XP_006710534.1:p.Tyr393His, XP_011539353.1:p.Tyr369His, XP_011539352.1:p.Tyr396His, XP_011539350.1:p.Tyr400His, XP_011539354.1:p.Tyr369His, XP_005270701.1:p.Tyr358His, NP_001073963.1:p.Tyr362His, XP_011539356.1:p.Tyr334His, NP_001284592.1:p.Tyr361His, NP_001138304.1:p.Tyr365His, NP_001284591.1:p.Tyr396His, NP_001284594.1:p.Tyr397His, XP_047305597.1:p.Tyr379His, XP_047305587.1:p.Tyr414His, XP_047305588.1:p.Tyr369His, NP_001284593.1:p.Tyr334His, XP_047305600.1:p.Tyr334His, NP_001284595.1:p.Tyr5His

                                      19.

                                      rs1468951667 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        1:51309396 (GRCh38)
                                        1:51775068 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:51309395:G:C,NC_000001.11:51309395:G:T
                                        Gene:
                                        TTC39A (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.51309396G>C, NC_000001.11:g.51309396G>T, NC_000001.10:g.51775068G>C, NC_000001.10:g.51775068G>T, XM_011541053.3:c.377C>G, XM_011541053.3:c.377C>A, XM_011541053.2:c.377C>G, XM_011541053.2:c.377C>A, XM_011541053.1:c.377C>G, XM_011541053.1:c.377C>A, XM_011541049.3:c.464C>G, XM_011541049.3:c.464C>A, XM_011541049.2:c.464C>G, XM_011541049.2:c.464C>A, XM_011541049.1:c.464C>G, XM_011541049.1:c.464C>A, XM_006710471.3:c.449C>G, XM_006710471.3:c.449C>A, XM_006710471.2:c.449C>G, XM_006710471.2:c.449C>A, XM_006710471.1:c.449C>G, XM_006710471.1:c.449C>A, XM_011541051.3:c.377C>G, XM_011541051.3:c.377C>A, XM_011541051.2:c.377C>G, XM_011541051.2:c.377C>A, XM_011541051.1:c.377C>G, XM_011541051.1:c.377C>A, XM_011541050.3:c.458C>G, XM_011541050.3:c.458C>A, XM_011541048.3:c.470C>G, XM_011541048.3:c.470C>A, XM_011541048.2:c.470C>G, XM_011541048.2:c.470C>A, XM_011541048.1:c.470C>G, XM_011541048.1:c.470C>A, XM_011541052.3:c.377C>G, XM_011541052.3:c.377C>A, XM_011541052.2:c.377C>G, XM_011541052.2:c.377C>A, XM_011541052.1:c.377C>G, XM_011541052.1:c.377C>A, NM_001297662.2:c.458C>G, NM_001297662.2:c.458C>A, NM_001297662.1:c.458C>G, NM_001297662.1:c.458C>A, NM_001297665.1:c.461C>G, NM_001297665.1:c.461C>A, XM_047449631.1:c.512C>G, XM_047449631.1:c.512C>A, XM_047449632.1:c.377C>G, XM_047449632.1:c.377C>A, NM_001410793.1:c.458C>G, NM_001410793.1:c.458C>A, XP_011539355.1:p.Ala126Gly, XP_011539355.1:p.Ala126Asp, XP_011539351.1:p.Ala155Gly, XP_011539351.1:p.Ala155Asp, XP_006710534.1:p.Ala150Gly, XP_006710534.1:p.Ala150Asp, XP_011539353.1:p.Ala126Gly, XP_011539353.1:p.Ala126Asp, XP_011539352.1:p.Ala153Gly, XP_011539352.1:p.Ala153Asp, XP_011539350.1:p.Ala157Gly, XP_011539350.1:p.Ala157Asp, XP_011539354.1:p.Ala126Gly, XP_011539354.1:p.Ala126Asp, NP_001284591.1:p.Ala153Gly, NP_001284591.1:p.Ala153Asp, NP_001284594.1:p.Ala154Gly, NP_001284594.1:p.Ala154Asp, XP_047305587.1:p.Ala171Gly, XP_047305587.1:p.Ala171Asp, XP_047305588.1:p.Ala126Gly, XP_047305588.1:p.Ala126Asp

                                        20.

                                        rs1467684561 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          1:51290532 (GRCh38)
                                          1:51756204 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:51290531:T:A
                                          Gene:
                                          TTC39A (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000342/1 (KOREAN)
                                          HGVS:
                                          NC_000001.11:g.51290532T>A, NC_000001.10:g.51756204T>A, XM_011541053.3:c.1384A>T, XM_011541053.2:c.1384A>T, XM_011541053.1:c.1384A>T, XM_011541049.3:c.1471A>T, XM_011541049.2:c.1471A>T, XM_011541049.1:c.1471A>T, XM_006710471.3:c.1456A>T, XM_006710471.2:c.1456A>T, XM_006710471.1:c.1456A>T, XM_011541051.3:c.1384A>T, XM_011541051.2:c.1384A>T, XM_011541051.1:c.1384A>T, XM_011541050.3:c.1465A>T, XM_011541048.3:c.1477A>T, XM_011541048.2:c.1477A>T, XM_011541048.1:c.1477A>T, XM_011541052.3:c.1384A>T, XM_011541052.2:c.1384A>T, XM_011541052.1:c.1384A>T, XM_005270644.3:c.1351A>T, XM_005270644.2:c.1351A>T, XM_005270644.1:c.1351A>T, NM_001080494.3:c.1363A>T, NM_001080494.2:c.1363A>T, XM_011541054.3:c.1279A>T, XM_011541054.2:c.1279A>T, XM_011541054.1:c.1279A>T, NM_001297663.2:c.1360A>T, NM_001297663.1:c.1360A>T, NM_001144832.2:c.1372A>T, NM_001144832.1:c.1372A>T, NM_001297665.1:c.1468A>T, XM_047449641.1:c.1414A>T, XM_047449631.1:c.1519A>T, XM_047449632.1:c.1384A>T, NM_001410793.1:c.1465A>T, NM_001297664.1:c.1279A>T, XM_047449644.1:c.1279A>T, NM_001297666.1:c.292A>T, NM_001297667.1:c.91A>T, XP_011539355.1:p.Met462Leu, XP_011539351.1:p.Met491Leu, XP_006710534.1:p.Met486Leu, XP_011539353.1:p.Met462Leu, XP_011539352.1:p.Met489Leu, XP_011539350.1:p.Met493Leu, XP_011539354.1:p.Met462Leu, XP_005270701.1:p.Met451Leu, NP_001073963.1:p.Met455Leu, XP_011539356.1:p.Met427Leu, NP_001284592.1:p.Met454Leu, NP_001138304.1:p.Met458Leu, NP_001284594.1:p.Met490Leu, XP_047305597.1:p.Met472Leu, XP_047305587.1:p.Met507Leu, XP_047305588.1:p.Met462Leu, NP_001284593.1:p.Met427Leu, XP_047305600.1:p.Met427Leu, NP_001284595.1:p.Met98Leu, NP_001284596.1:p.Met31Leu

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