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Items: 1 to 20 of 145

1.

rs1482855893 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    16:21170493 (GRCh38)
    16:21181814 (GRCh37)
    Canonical SPDI:
    NC_000016.10:21170492:G:C
    Gene:
    LDAF1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    HGVS:
    NC_000016.10:g.21170493G>C, NC_000016.9:g.21181814G>C, NM_020422.6:c.153G>C, NM_020422.5:c.153G>C, NM_020422.4:c.153G>C, XM_006721067.5:c.225G>C, XM_006721067.4:c.225G>C, XM_006721067.3:c.225G>C, XM_006721067.2:c.225G>C, XM_006721067.1:c.225G>C, XM_006721069.4:c.225G>C, XM_006721069.3:c.225G>C, XM_006721069.2:c.225G>C, XM_006721069.1:c.225G>C, XM_017023473.3:c.153G>C, XM_017023473.2:c.153G>C, XM_017023473.1:c.153G>C, XM_006721066.3:c.225G>C, XM_006721066.2:c.225G>C, XM_006721066.1:c.225G>C, XM_017023471.2:c.225G>C, XM_017023471.1:c.225G>C, XM_017023474.2:c.153G>C, XM_017023474.1:c.153G>C, NR_125971.2:n.396G>C, NR_125971.1:n.693G>C, NM_001301775.2:c.225G>C, NM_001301775.1:c.225G>C, NM_001301769.2:c.153G>C, NM_001301769.1:c.153G>C, NM_001301771.2:c.153G>C, NM_001301771.1:c.153G>C, NM_001301773.2:c.153G>C, NM_001301773.1:c.153G>C, NM_001301774.2:c.153G>C, NM_001301774.1:c.153G>C, XM_024450356.2:c.153G>C, XM_024450356.1:c.153G>C, XM_024450357.2:c.153G>C, XM_024450357.1:c.153G>C, XM_047434370.1:c.153G>C, XM_047434368.1:c.225G>C, XM_047434369.1:c.153G>C

    2.

    rs1478250631 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:21174057 (GRCh38)
      16:21185378 (GRCh37)
      Canonical SPDI:
      NC_000016.10:21174056:G:A
      Gene:
      LDAF1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000016.10:g.21174057G>A, NC_000016.9:g.21185378G>A, NM_020422.6:c.313G>A, NM_020422.5:c.313G>A, NM_020422.4:c.313G>A, XM_006721067.5:c.385G>A, XM_006721067.4:c.385G>A, XM_006721067.3:c.385G>A, XM_006721067.2:c.385G>A, XM_006721067.1:c.385G>A, XM_017023473.3:c.313G>A, XM_017023473.2:c.313G>A, XM_017023473.1:c.313G>A, XM_006721066.3:c.385G>A, XM_006721066.2:c.385G>A, XM_006721066.1:c.385G>A, XM_017023471.2:c.385G>A, XM_017023471.1:c.385G>A, XM_017023474.2:c.313G>A, XM_017023474.1:c.313G>A, NR_125971.2:n.556G>A, NR_125971.1:n.853G>A, NM_001301775.2:c.385G>A, NM_001301775.1:c.385G>A, NM_001301769.2:c.313G>A, NM_001301769.1:c.313G>A, NM_001301771.2:c.313G>A, NM_001301771.1:c.313G>A, XM_024450356.2:c.313G>A, XM_024450356.1:c.313G>A, XM_024450357.2:c.313G>A, XM_024450357.1:c.313G>A, XM_047434370.1:c.313G>A, XM_047434368.1:c.385G>A, XM_047434369.1:c.313G>A, NP_065155.3:p.Gly105Ser, XP_006721130.1:p.Gly129Ser, XP_016878962.1:p.Gly105Ser, XP_006721129.1:p.Gly129Ser, XP_016878960.1:p.Gly129Ser, XP_016878963.1:p.Gly105Ser, NP_001288704.1:p.Gly129Ser, NP_001288698.1:p.Gly105Ser, NP_001288700.1:p.Gly105Ser, XP_024306124.1:p.Gly105Ser, XP_024306125.1:p.Gly105Ser, XP_047290326.1:p.Gly105Ser, XP_047290324.1:p.Gly129Ser, XP_047290325.1:p.Gly105Ser

      3.

      rs1474890989 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:21161240 (GRCh38)
        16:21172561 (GRCh37)
        Canonical SPDI:
        NC_000016.10:21161239:C:T
        Gene:
        DNAH3 (Varview), LDAF1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        NC_000016.10:g.21161240C>T, NC_000016.9:g.21172561C>T, NG_052617.1:g.3202G>A, NM_020422.6:c.58C>T, NM_020422.5:c.58C>T, NM_020422.4:c.58C>T, XM_006721067.5:c.58C>T, XM_006721067.4:c.58C>T, XM_006721067.3:c.58C>T, XM_006721067.2:c.58C>T, XM_006721067.1:c.58C>T, XM_006721069.4:c.58C>T, XM_006721069.3:c.58C>T, XM_006721069.2:c.58C>T, XM_006721069.1:c.58C>T, XM_017023473.3:c.58C>T, XM_017023473.2:c.58C>T, XM_017023473.1:c.58C>T, XM_006721066.3:c.58C>T, XM_006721066.2:c.58C>T, XM_006721066.1:c.58C>T, XM_017023471.2:c.58C>T, XM_017023471.1:c.58C>T, XM_017023474.2:c.58C>T, XM_017023474.1:c.58C>T, NR_125971.2:n.229C>T, NR_125971.1:n.526C>T, NM_001301775.2:c.58C>T, NM_001301775.1:c.58C>T, NM_001301769.2:c.58C>T, NM_001301769.1:c.58C>T, NM_001301771.2:c.58C>T, NM_001301771.1:c.58C>T, NM_001301773.2:c.58C>T, NM_001301773.1:c.58C>T, NM_001301774.2:c.58C>T, NM_001301774.1:c.58C>T, XM_024450356.2:c.58C>T, XM_024450356.1:c.58C>T, XM_024450357.2:c.58C>T, XM_024450357.1:c.58C>T, XM_047434370.1:c.58C>T, XM_047434368.1:c.58C>T, XM_047434369.1:c.58C>T

        4.

        rs1472442788 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          16:21174074 (GRCh38)
          16:21185395 (GRCh37)
          Canonical SPDI:
          NC_000016.10:21174073:A:C,NC_000016.10:21174073:A:G
          Gene:
          LDAF1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          C=0.00655/12 (Korea1K)
          HGVS:
          NC_000016.10:g.21174074A>C, NC_000016.10:g.21174074A>G, NC_000016.9:g.21185395A>C, NC_000016.9:g.21185395A>G, NM_020422.6:c.330A>C, NM_020422.6:c.330A>G, NM_020422.5:c.330A>C, NM_020422.5:c.330A>G, NM_020422.4:c.330A>C, NM_020422.4:c.330A>G, XM_006721067.5:c.402A>C, XM_006721067.5:c.402A>G, XM_006721067.4:c.402A>C, XM_006721067.4:c.402A>G, XM_006721067.3:c.402A>C, XM_006721067.3:c.402A>G, XM_006721067.2:c.402A>C, XM_006721067.2:c.402A>G, XM_006721067.1:c.402A>C, XM_006721067.1:c.402A>G, XM_017023473.3:c.330A>C, XM_017023473.3:c.330A>G, XM_017023473.2:c.330A>C, XM_017023473.2:c.330A>G, XM_017023473.1:c.330A>C, XM_017023473.1:c.330A>G, XM_006721066.3:c.402A>C, XM_006721066.3:c.402A>G, XM_006721066.2:c.402A>C, XM_006721066.2:c.402A>G, XM_006721066.1:c.402A>C, XM_006721066.1:c.402A>G, XM_017023471.2:c.402A>C, XM_017023471.2:c.402A>G, XM_017023471.1:c.402A>C, XM_017023471.1:c.402A>G, XM_017023474.2:c.330A>C, XM_017023474.2:c.330A>G, XM_017023474.1:c.330A>C, XM_017023474.1:c.330A>G, NR_125971.2:n.573A>C, NR_125971.2:n.573A>G, NR_125971.1:n.870A>C, NR_125971.1:n.870A>G, NM_001301775.2:c.402A>C, NM_001301775.2:c.402A>G, NM_001301775.1:c.402A>C, NM_001301775.1:c.402A>G, NM_001301769.2:c.330A>C, NM_001301769.2:c.330A>G, NM_001301769.1:c.330A>C, NM_001301769.1:c.330A>G, NM_001301771.2:c.330A>C, NM_001301771.2:c.330A>G, NM_001301771.1:c.330A>C, NM_001301771.1:c.330A>G, XM_024450356.2:c.330A>C, XM_024450356.2:c.330A>G, XM_024450356.1:c.330A>C, XM_024450356.1:c.330A>G, XM_024450357.2:c.330A>C, XM_024450357.2:c.330A>G, XM_024450357.1:c.330A>C, XM_024450357.1:c.330A>G, XM_047434370.1:c.330A>C, XM_047434370.1:c.330A>G, XM_047434368.1:c.402A>C, XM_047434368.1:c.402A>G, XM_047434369.1:c.330A>C, XM_047434369.1:c.330A>G

          5.

          rs1470661939 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            16:21170570 (GRCh38)
            16:21181891 (GRCh37)
            Canonical SPDI:
            NC_000016.10:21170569:C:A
            Gene:
            LDAF1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            HGVS:
            NC_000016.10:g.21170570C>A, NC_000016.9:g.21181891C>A, NM_020422.6:c.230C>A, NM_020422.5:c.230C>A, NM_020422.4:c.230C>A, XM_006721067.5:c.302C>A, XM_006721067.4:c.302C>A, XM_006721067.3:c.302C>A, XM_006721067.2:c.302C>A, XM_006721067.1:c.302C>A, XM_006721069.4:c.302C>A, XM_006721069.3:c.302C>A, XM_006721069.2:c.302C>A, XM_006721069.1:c.302C>A, XM_017023473.3:c.230C>A, XM_017023473.2:c.230C>A, XM_017023473.1:c.230C>A, XM_006721066.3:c.302C>A, XM_006721066.2:c.302C>A, XM_006721066.1:c.302C>A, XM_017023471.2:c.302C>A, XM_017023471.1:c.302C>A, XM_017023474.2:c.230C>A, XM_017023474.1:c.230C>A, NR_125971.2:n.473C>A, NR_125971.1:n.770C>A, NM_001301775.2:c.302C>A, NM_001301775.1:c.302C>A, NM_001301769.2:c.230C>A, NM_001301769.1:c.230C>A, NM_001301771.2:c.230C>A, NM_001301771.1:c.230C>A, NM_001301773.2:c.230C>A, NM_001301773.1:c.230C>A, NM_001301774.2:c.230C>A, NM_001301774.1:c.230C>A, XM_024450356.2:c.230C>A, XM_024450356.1:c.230C>A, XM_024450357.2:c.230C>A, XM_024450357.1:c.230C>A, XM_047434370.1:c.230C>A, XM_047434368.1:c.302C>A, XM_047434369.1:c.230C>A, NP_065155.3:p.Thr77Asn, XP_006721130.1:p.Thr101Asn, XP_006721132.1:p.Thr101Asn, XP_016878962.1:p.Thr77Asn, XP_006721129.1:p.Thr101Asn, XP_016878960.1:p.Thr101Asn, XP_016878963.1:p.Thr77Asn, NP_001288704.1:p.Thr101Asn, NP_001288698.1:p.Thr77Asn, NP_001288700.1:p.Thr77Asn, NP_001288702.1:p.Thr77Asn, NP_001288703.1:p.Thr77Asn, XP_024306124.1:p.Thr77Asn, XP_024306125.1:p.Thr77Asn, XP_047290326.1:p.Thr77Asn, XP_047290324.1:p.Thr101Asn, XP_047290325.1:p.Thr77Asn

            6.

            rs1461804165 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              16:21170542 (GRCh38)
              16:21181863 (GRCh37)
              Canonical SPDI:
              NC_000016.10:21170541:T:G
              Gene:
              LDAF1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000056/2 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000011/3 (TOPMED)
              G=0.000014/2 (GnomAD)
              HGVS:
              NC_000016.10:g.21170542T>G, NC_000016.9:g.21181863T>G, NM_020422.6:c.202T>G, NM_020422.5:c.202T>G, NM_020422.4:c.202T>G, XM_006721067.5:c.274T>G, XM_006721067.4:c.274T>G, XM_006721067.3:c.274T>G, XM_006721067.2:c.274T>G, XM_006721067.1:c.274T>G, XM_006721069.4:c.274T>G, XM_006721069.3:c.274T>G, XM_006721069.2:c.274T>G, XM_006721069.1:c.274T>G, XM_017023473.3:c.202T>G, XM_017023473.2:c.202T>G, XM_017023473.1:c.202T>G, XM_006721066.3:c.274T>G, XM_006721066.2:c.274T>G, XM_006721066.1:c.274T>G, XM_017023471.2:c.274T>G, XM_017023471.1:c.274T>G, XM_017023474.2:c.202T>G, XM_017023474.1:c.202T>G, NR_125971.2:n.445T>G, NR_125971.1:n.742T>G, NM_001301775.2:c.274T>G, NM_001301775.1:c.274T>G, NM_001301769.2:c.202T>G, NM_001301769.1:c.202T>G, NM_001301771.2:c.202T>G, NM_001301771.1:c.202T>G, NM_001301773.2:c.202T>G, NM_001301773.1:c.202T>G, NM_001301774.2:c.202T>G, NM_001301774.1:c.202T>G, XM_024450356.2:c.202T>G, XM_024450356.1:c.202T>G, XM_024450357.2:c.202T>G, XM_024450357.1:c.202T>G, XM_047434370.1:c.202T>G, XM_047434368.1:c.274T>G, XM_047434369.1:c.202T>G, NP_065155.3:p.Phe68Val, XP_006721130.1:p.Phe92Val, XP_006721132.1:p.Phe92Val, XP_016878962.1:p.Phe68Val, XP_006721129.1:p.Phe92Val, XP_016878960.1:p.Phe92Val, XP_016878963.1:p.Phe68Val, NP_001288704.1:p.Phe92Val, NP_001288698.1:p.Phe68Val, NP_001288700.1:p.Phe68Val, NP_001288702.1:p.Phe68Val, NP_001288703.1:p.Phe68Val, XP_024306124.1:p.Phe68Val, XP_024306125.1:p.Phe68Val, XP_047290326.1:p.Phe68Val, XP_047290324.1:p.Phe92Val, XP_047290325.1:p.Phe68Val

              7.

              rs1460189619 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                16:21179505 (GRCh38)
                16:21190826 (GRCh37)
                Canonical SPDI:
                NC_000016.10:21179504:C:G
                Gene:
                LDAF1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1454551598 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:21170513 (GRCh38)
                  16:21181834 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:21170512:T:C
                  Gene:
                  LDAF1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.21170513T>C, NC_000016.9:g.21181834T>C, NM_020422.6:c.173T>C, NM_020422.5:c.173T>C, NM_020422.4:c.173T>C, XM_006721067.5:c.245T>C, XM_006721067.4:c.245T>C, XM_006721067.3:c.245T>C, XM_006721067.2:c.245T>C, XM_006721067.1:c.245T>C, XM_006721069.4:c.245T>C, XM_006721069.3:c.245T>C, XM_006721069.2:c.245T>C, XM_006721069.1:c.245T>C, XM_017023473.3:c.173T>C, XM_017023473.2:c.173T>C, XM_017023473.1:c.173T>C, XM_006721066.3:c.245T>C, XM_006721066.2:c.245T>C, XM_006721066.1:c.245T>C, XM_017023471.2:c.245T>C, XM_017023471.1:c.245T>C, XM_017023474.2:c.173T>C, XM_017023474.1:c.173T>C, NR_125971.2:n.416T>C, NR_125971.1:n.713T>C, NM_001301775.2:c.245T>C, NM_001301775.1:c.245T>C, NM_001301769.2:c.173T>C, NM_001301769.1:c.173T>C, NM_001301771.2:c.173T>C, NM_001301771.1:c.173T>C, NM_001301773.2:c.173T>C, NM_001301773.1:c.173T>C, NM_001301774.2:c.173T>C, NM_001301774.1:c.173T>C, XM_024450356.2:c.173T>C, XM_024450356.1:c.173T>C, XM_024450357.2:c.173T>C, XM_024450357.1:c.173T>C, XM_047434370.1:c.173T>C, XM_047434368.1:c.245T>C, XM_047434369.1:c.173T>C, NP_065155.3:p.Phe58Ser, XP_006721130.1:p.Phe82Ser, XP_006721132.1:p.Phe82Ser, XP_016878962.1:p.Phe58Ser, XP_006721129.1:p.Phe82Ser, XP_016878960.1:p.Phe82Ser, XP_016878963.1:p.Phe58Ser, NP_001288704.1:p.Phe82Ser, NP_001288698.1:p.Phe58Ser, NP_001288700.1:p.Phe58Ser, NP_001288702.1:p.Phe58Ser, NP_001288703.1:p.Phe58Ser, XP_024306124.1:p.Phe58Ser, XP_024306125.1:p.Phe58Ser, XP_047290326.1:p.Phe58Ser, XP_047290324.1:p.Phe82Ser, XP_047290325.1:p.Phe58Ser

                  9.

                  rs1451078642 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    16:21161269 (GRCh38)
                    16:21172590 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:21161268:T:C
                    Gene:
                    DNAH3 (Varview), LDAF1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.21161269T>C, NC_000016.9:g.21172590T>C, NG_052617.1:g.3173A>G, NM_020422.6:c.87T>C, NM_020422.5:c.87T>C, NM_020422.4:c.87T>C, XM_006721067.5:c.87T>C, XM_006721067.4:c.87T>C, XM_006721067.3:c.87T>C, XM_006721067.2:c.87T>C, XM_006721067.1:c.87T>C, XM_006721069.4:c.87T>C, XM_006721069.3:c.87T>C, XM_006721069.2:c.87T>C, XM_006721069.1:c.87T>C, XM_017023473.3:c.87T>C, XM_017023473.2:c.87T>C, XM_017023473.1:c.87T>C, XM_006721066.3:c.87T>C, XM_006721066.2:c.87T>C, XM_006721066.1:c.87T>C, XM_017023471.2:c.87T>C, XM_017023471.1:c.87T>C, XM_017023474.2:c.87T>C, XM_017023474.1:c.87T>C, NR_125971.2:n.258T>C, NR_125971.1:n.555T>C, NM_001301775.2:c.87T>C, NM_001301775.1:c.87T>C, NM_001301769.2:c.87T>C, NM_001301769.1:c.87T>C, NM_001301771.2:c.87T>C, NM_001301771.1:c.87T>C, NM_001301773.2:c.87T>C, NM_001301773.1:c.87T>C, NM_001301774.2:c.87T>C, NM_001301774.1:c.87T>C, XM_024450356.2:c.87T>C, XM_024450356.1:c.87T>C, XM_024450357.2:c.87T>C, XM_024450357.1:c.87T>C, XM_047434370.1:c.87T>C, XM_047434368.1:c.87T>C, XM_047434369.1:c.87T>C

                    10.

                    rs1447994110 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:21174103 (GRCh38)
                      16:21185424 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:21174102:C:T
                      Gene:
                      LDAF1 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.21174103C>T, NC_000016.9:g.21185424C>T, NM_020422.6:c.359C>T, NM_020422.5:c.359C>T, NM_020422.4:c.359C>T, XM_006721067.5:c.431C>T, XM_006721067.4:c.431C>T, XM_006721067.3:c.431C>T, XM_006721067.2:c.431C>T, XM_006721067.1:c.431C>T, XM_017023473.3:c.359C>T, XM_017023473.2:c.359C>T, XM_017023473.1:c.359C>T, XM_006721066.3:c.431C>T, XM_006721066.2:c.431C>T, XM_006721066.1:c.431C>T, XM_017023471.2:c.431C>T, XM_017023471.1:c.431C>T, XM_017023474.2:c.359C>T, XM_017023474.1:c.359C>T, NR_125971.2:n.602C>T, NR_125971.1:n.899C>T, NM_001301775.2:c.431C>T, NM_001301775.1:c.431C>T, NM_001301769.2:c.359C>T, NM_001301769.1:c.359C>T, NM_001301771.2:c.359C>T, NM_001301771.1:c.359C>T, XM_024450356.2:c.359C>T, XM_024450356.1:c.359C>T, XM_024450357.2:c.359C>T, XM_024450357.1:c.359C>T, XM_047434370.1:c.359C>T, XM_047434368.1:c.431C>T, XM_047434369.1:c.359C>T, NP_065155.3:p.Ser120Phe, XP_006721130.1:p.Ser144Phe, XP_016878962.1:p.Ser120Phe, XP_006721129.1:p.Ser144Phe, XP_016878960.1:p.Ser144Phe, XP_016878963.1:p.Ser120Phe, NP_001288704.1:p.Ser144Phe, NP_001288698.1:p.Ser120Phe, NP_001288700.1:p.Ser120Phe, XP_024306124.1:p.Ser120Phe, XP_024306125.1:p.Ser120Phe, XP_047290326.1:p.Ser120Phe, XP_047290324.1:p.Ser144Phe, XP_047290325.1:p.Ser120Phe

                      11.

                      rs1447606122 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        16:21161247 (GRCh38)
                        16:21172568 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:21161246:T:A
                        Gene:
                        DNAH3 (Varview), LDAF1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.21161247T>A, NC_000016.9:g.21172568T>A, NG_052617.1:g.3195A>T, NM_020422.6:c.65T>A, NM_020422.5:c.65T>A, NM_020422.4:c.65T>A, XM_006721067.5:c.65T>A, XM_006721067.4:c.65T>A, XM_006721067.3:c.65T>A, XM_006721067.2:c.65T>A, XM_006721067.1:c.65T>A, XM_006721069.4:c.65T>A, XM_006721069.3:c.65T>A, XM_006721069.2:c.65T>A, XM_006721069.1:c.65T>A, XM_017023473.3:c.65T>A, XM_017023473.2:c.65T>A, XM_017023473.1:c.65T>A, XM_006721066.3:c.65T>A, XM_006721066.2:c.65T>A, XM_006721066.1:c.65T>A, XM_017023471.2:c.65T>A, XM_017023471.1:c.65T>A, XM_017023474.2:c.65T>A, XM_017023474.1:c.65T>A, NR_125971.2:n.236T>A, NR_125971.1:n.533T>A, NM_001301775.2:c.65T>A, NM_001301775.1:c.65T>A, NM_001301769.2:c.65T>A, NM_001301769.1:c.65T>A, NM_001301771.2:c.65T>A, NM_001301771.1:c.65T>A, NM_001301773.2:c.65T>A, NM_001301773.1:c.65T>A, NM_001301774.2:c.65T>A, NM_001301774.1:c.65T>A, XM_024450356.2:c.65T>A, XM_024450356.1:c.65T>A, XM_024450357.2:c.65T>A, XM_024450357.1:c.65T>A, XM_047434370.1:c.65T>A, XM_047434368.1:c.65T>A, XM_047434369.1:c.65T>A, NP_065155.3:p.Leu22Gln, XP_006721130.1:p.Leu22Gln, XP_006721132.1:p.Leu22Gln, XP_016878962.1:p.Leu22Gln, XP_006721129.1:p.Leu22Gln, XP_016878960.1:p.Leu22Gln, XP_016878963.1:p.Leu22Gln, NP_001288704.1:p.Leu22Gln, NP_001288698.1:p.Leu22Gln, NP_001288700.1:p.Leu22Gln, NP_001288702.1:p.Leu22Gln, NP_001288703.1:p.Leu22Gln, XP_024306124.1:p.Leu22Gln, XP_024306125.1:p.Leu22Gln, XP_047290326.1:p.Leu22Gln, XP_047290324.1:p.Leu22Gln, XP_047290325.1:p.Leu22Gln

                        12.

                        rs1441309884 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          16:21174133 (GRCh38)
                          16:21185454 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:21174132:G:A,NC_000016.10:21174132:G:C
                          Gene:
                          LDAF1 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000016.10:g.21174133G>A, NC_000016.10:g.21174133G>C, NC_000016.9:g.21185454G>A, NC_000016.9:g.21185454G>C, NM_020422.6:c.389G>A, NM_020422.6:c.389G>C, NM_020422.5:c.389G>A, NM_020422.5:c.389G>C, NM_020422.4:c.389G>A, NM_020422.4:c.389G>C, XM_006721067.5:c.461G>A, XM_006721067.5:c.461G>C, XM_006721067.4:c.461G>A, XM_006721067.4:c.461G>C, XM_006721067.3:c.461G>A, XM_006721067.3:c.461G>C, XM_006721067.2:c.461G>A, XM_006721067.2:c.461G>C, XM_006721067.1:c.461G>A, XM_006721067.1:c.461G>C, XM_017023473.3:c.389G>A, XM_017023473.3:c.389G>C, XM_017023473.2:c.389G>A, XM_017023473.2:c.389G>C, XM_017023473.1:c.389G>A, XM_017023473.1:c.389G>C, XM_006721066.3:c.461G>A, XM_006721066.3:c.461G>C, XM_006721066.2:c.461G>A, XM_006721066.2:c.461G>C, XM_006721066.1:c.461G>A, XM_006721066.1:c.461G>C, XM_017023471.2:c.461G>A, XM_017023471.2:c.461G>C, XM_017023471.1:c.461G>A, XM_017023471.1:c.461G>C, XM_017023474.2:c.389G>A, XM_017023474.2:c.389G>C, XM_017023474.1:c.389G>A, XM_017023474.1:c.389G>C, NR_125971.2:n.632G>A, NR_125971.2:n.632G>C, NR_125971.1:n.929G>A, NR_125971.1:n.929G>C, NM_001301775.2:c.461G>A, NM_001301775.2:c.461G>C, NM_001301775.1:c.461G>A, NM_001301775.1:c.461G>C, NM_001301769.2:c.389G>A, NM_001301769.2:c.389G>C, NM_001301769.1:c.389G>A, NM_001301769.1:c.389G>C, NM_001301771.2:c.389G>A, NM_001301771.2:c.389G>C, NM_001301771.1:c.389G>A, NM_001301771.1:c.389G>C, XM_024450356.2:c.389G>A, XM_024450356.2:c.389G>C, XM_024450356.1:c.389G>A, XM_024450356.1:c.389G>C, XM_024450357.2:c.389G>A, XM_024450357.2:c.389G>C, XM_024450357.1:c.389G>A, XM_024450357.1:c.389G>C, XM_047434370.1:c.389G>A, XM_047434370.1:c.389G>C, XM_047434368.1:c.461G>A, XM_047434368.1:c.461G>C, XM_047434369.1:c.389G>A, XM_047434369.1:c.389G>C, NP_065155.3:p.Cys130Tyr, NP_065155.3:p.Cys130Ser, XP_006721130.1:p.Cys154Tyr, XP_006721130.1:p.Cys154Ser, XP_016878962.1:p.Cys130Tyr, XP_016878962.1:p.Cys130Ser, XP_006721129.1:p.Cys154Tyr, XP_006721129.1:p.Cys154Ser, XP_016878960.1:p.Cys154Tyr, XP_016878960.1:p.Cys154Ser, XP_016878963.1:p.Cys130Tyr, XP_016878963.1:p.Cys130Ser, NP_001288704.1:p.Cys154Tyr, NP_001288704.1:p.Cys154Ser, NP_001288698.1:p.Cys130Tyr, NP_001288698.1:p.Cys130Ser, NP_001288700.1:p.Cys130Tyr, NP_001288700.1:p.Cys130Ser, XP_024306124.1:p.Cys130Tyr, XP_024306124.1:p.Cys130Ser, XP_024306125.1:p.Cys130Tyr, XP_024306125.1:p.Cys130Ser, XP_047290326.1:p.Cys130Tyr, XP_047290326.1:p.Cys130Ser, XP_047290324.1:p.Cys154Tyr, XP_047290324.1:p.Cys154Ser, XP_047290325.1:p.Cys130Tyr, XP_047290325.1:p.Cys130Ser

                          13.

                          rs1435653934 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            16:21170588 (GRCh38)
                            16:21181909 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:21170587:G:T
                            Gene:
                            LDAF1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.21170588G>T, NC_000016.9:g.21181909G>T, NM_020422.6:c.248G>T, NM_020422.5:c.248G>T, NM_020422.4:c.248G>T, XM_006721067.5:c.320G>T, XM_006721067.4:c.320G>T, XM_006721067.3:c.320G>T, XM_006721067.2:c.320G>T, XM_006721067.1:c.320G>T, XM_006721069.4:c.320G>T, XM_006721069.3:c.320G>T, XM_006721069.2:c.320G>T, XM_006721069.1:c.320G>T, XM_017023473.3:c.248G>T, XM_017023473.2:c.248G>T, XM_017023473.1:c.248G>T, XM_006721066.3:c.320G>T, XM_006721066.2:c.320G>T, XM_006721066.1:c.320G>T, XM_017023471.2:c.320G>T, XM_017023471.1:c.320G>T, XM_017023474.2:c.248G>T, XM_017023474.1:c.248G>T, NR_125971.2:n.491G>T, NR_125971.1:n.788G>T, NM_001301775.2:c.320G>T, NM_001301775.1:c.320G>T, NM_001301769.2:c.248G>T, NM_001301769.1:c.248G>T, NM_001301771.2:c.248G>T, NM_001301771.1:c.248G>T, NM_001301773.2:c.248G>T, NM_001301773.1:c.248G>T, NM_001301774.2:c.248G>T, NM_001301774.1:c.248G>T, XM_024450356.2:c.248G>T, XM_024450356.1:c.248G>T, XM_024450357.2:c.248G>T, XM_024450357.1:c.248G>T, XM_047434370.1:c.248G>T, XM_047434368.1:c.320G>T, XM_047434369.1:c.248G>T, NP_065155.3:p.Gly83Val, XP_006721130.1:p.Gly107Val, XP_006721132.1:p.Gly107Val, XP_016878962.1:p.Gly83Val, XP_006721129.1:p.Gly107Val, XP_016878960.1:p.Gly107Val, XP_016878963.1:p.Gly83Val, NP_001288704.1:p.Gly107Val, NP_001288698.1:p.Gly83Val, NP_001288700.1:p.Gly83Val, NP_001288702.1:p.Gly83Val, NP_001288703.1:p.Gly83Val, XP_024306124.1:p.Gly83Val, XP_024306125.1:p.Gly83Val, XP_047290326.1:p.Gly83Val, XP_047290324.1:p.Gly107Val, XP_047290325.1:p.Gly83Val

                            14.

                            rs1430677779 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->AG [Show Flanks]
                              Chromosome:
                              16:21161190 (GRCh38)
                              16:21172512 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:21161190:AGAG:AGAGAG
                              Gene:
                              DNAH3 (Varview), LDAF1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              AG=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000016.10:g.21161191AG[3], NC_000016.9:g.21172512AG[3], NG_052617.1:g.3248CT[3], NM_020422.6:c.11_12dup, NM_020422.5:c.11_12dup, NM_020422.4:c.11_12dup, XM_006721067.5:c.11_12dup, XM_006721067.4:c.11_12dup, XM_006721067.3:c.11_12dup, XM_006721067.2:c.11_12dup, XM_006721067.1:c.11_12dup, XM_006721069.4:c.11_12dup, XM_006721069.3:c.11_12dup, XM_006721069.2:c.11_12dup, XM_006721069.1:c.11_12dup, XM_017023473.3:c.11_12dup, XM_017023473.2:c.11_12dup, XM_017023473.1:c.11_12dup, XM_006721066.3:c.11_12dup, XM_006721066.2:c.11_12dup, XM_006721066.1:c.11_12dup, XM_017023471.2:c.11_12dup, XM_017023471.1:c.11_12dup, XM_017023474.2:c.11_12dup, XM_017023474.1:c.11_12dup, NR_125971.2:n.180AG[3], NR_125971.1:n.477AG[3], NM_001301775.2:c.11_12dup, NM_001301775.1:c.11_12dup, NM_001301769.2:c.11_12dup, NM_001301769.1:c.11_12dup, NM_001301771.2:c.11_12dup, NM_001301771.1:c.11_12dup, NM_001301773.2:c.11_12dup, NM_001301773.1:c.11_12dup, NM_001301774.2:c.11_12dup, NM_001301774.1:c.11_12dup, XM_024450356.2:c.11_12dup, XM_024450356.1:c.11_12dup, XM_024450357.2:c.11_12dup, XM_024450357.1:c.11_12dup, XM_047434370.1:c.11_12dup, XM_047434368.1:c.11_12dup, XM_047434369.1:c.11_12dup, NP_065155.3:p.Glu5fs, XP_006721130.1:p.Glu5fs, XP_006721132.1:p.Glu5fs, XP_016878962.1:p.Glu5fs, XP_006721129.1:p.Glu5fs, XP_016878960.1:p.Glu5fs, XP_016878963.1:p.Glu5fs, NP_001288704.1:p.Glu5fs, NP_001288698.1:p.Glu5fs, NP_001288700.1:p.Glu5fs, NP_001288702.1:p.Glu5fs, NP_001288703.1:p.Glu5fs, XP_024306124.1:p.Glu5fs, XP_024306125.1:p.Glu5fs, XP_047290326.1:p.Glu5fs, XP_047290324.1:p.Glu5fs, XP_047290325.1:p.Glu5fs

                              15.

                              rs1414623770 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                16:21174128 (GRCh38)
                                16:21185449 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:21174127:C:G
                                Gene:
                                LDAF1 (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000016.10:g.21174128C>G, NC_000016.9:g.21185449C>G, NM_020422.6:c.384C>G, NM_020422.5:c.384C>G, NM_020422.4:c.384C>G, XM_006721067.5:c.456C>G, XM_006721067.4:c.456C>G, XM_006721067.3:c.456C>G, XM_006721067.2:c.456C>G, XM_006721067.1:c.456C>G, XM_017023473.3:c.384C>G, XM_017023473.2:c.384C>G, XM_017023473.1:c.384C>G, XM_006721066.3:c.456C>G, XM_006721066.2:c.456C>G, XM_006721066.1:c.456C>G, XM_017023471.2:c.456C>G, XM_017023471.1:c.456C>G, XM_017023474.2:c.384C>G, XM_017023474.1:c.384C>G, NR_125971.2:n.627C>G, NR_125971.1:n.924C>G, NM_001301775.2:c.456C>G, NM_001301775.1:c.456C>G, NM_001301769.2:c.384C>G, NM_001301769.1:c.384C>G, NM_001301771.2:c.384C>G, NM_001301771.1:c.384C>G, XM_024450356.2:c.384C>G, XM_024450356.1:c.384C>G, XM_024450357.2:c.384C>G, XM_024450357.1:c.384C>G, XM_047434370.1:c.384C>G, XM_047434368.1:c.456C>G, XM_047434369.1:c.384C>G, NP_065155.3:p.Ile128Met, XP_006721130.1:p.Ile152Met, XP_016878962.1:p.Ile128Met, XP_006721129.1:p.Ile152Met, XP_016878960.1:p.Ile152Met, XP_016878963.1:p.Ile128Met, NP_001288704.1:p.Ile152Met, NP_001288698.1:p.Ile128Met, NP_001288700.1:p.Ile128Met, XP_024306124.1:p.Ile128Met, XP_024306125.1:p.Ile128Met, XP_047290326.1:p.Ile128Met, XP_047290324.1:p.Ile152Met, XP_047290325.1:p.Ile128Met

                                16.

                                rs1402243096 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  16:21170511 (GRCh38)
                                  16:21181832 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:21170510:G:T
                                  Gene:
                                  LDAF1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000047/1 (ALFA)
                                  T=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.21170511G>T, NC_000016.9:g.21181832G>T, NM_020422.6:c.171G>T, NM_020422.5:c.171G>T, NM_020422.4:c.171G>T, XM_006721067.5:c.243G>T, XM_006721067.4:c.243G>T, XM_006721067.3:c.243G>T, XM_006721067.2:c.243G>T, XM_006721067.1:c.243G>T, XM_006721069.4:c.243G>T, XM_006721069.3:c.243G>T, XM_006721069.2:c.243G>T, XM_006721069.1:c.243G>T, XM_017023473.3:c.171G>T, XM_017023473.2:c.171G>T, XM_017023473.1:c.171G>T, XM_006721066.3:c.243G>T, XM_006721066.2:c.243G>T, XM_006721066.1:c.243G>T, XM_017023471.2:c.243G>T, XM_017023471.1:c.243G>T, XM_017023474.2:c.171G>T, XM_017023474.1:c.171G>T, NR_125971.2:n.414G>T, NR_125971.1:n.711G>T, NM_001301775.2:c.243G>T, NM_001301775.1:c.243G>T, NM_001301769.2:c.171G>T, NM_001301769.1:c.171G>T, NM_001301771.2:c.171G>T, NM_001301771.1:c.171G>T, NM_001301773.2:c.171G>T, NM_001301773.1:c.171G>T, NM_001301774.2:c.171G>T, NM_001301774.1:c.171G>T, XM_024450356.2:c.171G>T, XM_024450356.1:c.171G>T, XM_024450357.2:c.171G>T, XM_024450357.1:c.171G>T, XM_047434370.1:c.171G>T, XM_047434368.1:c.243G>T, XM_047434369.1:c.171G>T

                                  17.

                                  rs1401746769 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:21174092 (GRCh38)
                                    16:21185413 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:21174091:G:A
                                    Gene:
                                    LDAF1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.21174092G>A, NC_000016.9:g.21185413G>A, NM_020422.6:c.348G>A, NM_020422.5:c.348G>A, NM_020422.4:c.348G>A, XM_006721067.5:c.420G>A, XM_006721067.4:c.420G>A, XM_006721067.3:c.420G>A, XM_006721067.2:c.420G>A, XM_006721067.1:c.420G>A, XM_017023473.3:c.348G>A, XM_017023473.2:c.348G>A, XM_017023473.1:c.348G>A, XM_006721066.3:c.420G>A, XM_006721066.2:c.420G>A, XM_006721066.1:c.420G>A, XM_017023471.2:c.420G>A, XM_017023471.1:c.420G>A, XM_017023474.2:c.348G>A, XM_017023474.1:c.348G>A, NR_125971.2:n.591G>A, NR_125971.1:n.888G>A, NM_001301775.2:c.420G>A, NM_001301775.1:c.420G>A, NM_001301769.2:c.348G>A, NM_001301769.1:c.348G>A, NM_001301771.2:c.348G>A, NM_001301771.1:c.348G>A, XM_024450356.2:c.348G>A, XM_024450356.1:c.348G>A, XM_024450357.2:c.348G>A, XM_024450357.1:c.348G>A, XM_047434370.1:c.348G>A, XM_047434368.1:c.420G>A, XM_047434369.1:c.348G>A, NP_065155.3:p.Met116Ile, XP_006721130.1:p.Met140Ile, XP_016878962.1:p.Met116Ile, XP_006721129.1:p.Met140Ile, XP_016878960.1:p.Met140Ile, XP_016878963.1:p.Met116Ile, NP_001288704.1:p.Met140Ile, NP_001288698.1:p.Met116Ile, NP_001288700.1:p.Met116Ile, XP_024306124.1:p.Met116Ile, XP_024306125.1:p.Met116Ile, XP_047290326.1:p.Met116Ile, XP_047290324.1:p.Met140Ile, XP_047290325.1:p.Met116Ile

                                    18.

                                    rs1396528180 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:21161200 (GRCh38)
                                      16:21172521 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:21161199:C:T
                                      Gene:
                                      DNAH3 (Varview), LDAF1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.21161200C>T, NC_000016.9:g.21172521C>T, NG_052617.1:g.3242G>A, NM_020422.6:c.18C>T, NM_020422.5:c.18C>T, NM_020422.4:c.18C>T, XM_006721067.5:c.18C>T, XM_006721067.4:c.18C>T, XM_006721067.3:c.18C>T, XM_006721067.2:c.18C>T, XM_006721067.1:c.18C>T, XM_006721069.4:c.18C>T, XM_006721069.3:c.18C>T, XM_006721069.2:c.18C>T, XM_006721069.1:c.18C>T, XM_017023473.3:c.18C>T, XM_017023473.2:c.18C>T, XM_017023473.1:c.18C>T, XM_006721066.3:c.18C>T, XM_006721066.2:c.18C>T, XM_006721066.1:c.18C>T, XM_017023471.2:c.18C>T, XM_017023471.1:c.18C>T, XM_017023474.2:c.18C>T, XM_017023474.1:c.18C>T, NR_125971.2:n.189C>T, NR_125971.1:n.486C>T, NM_001301775.2:c.18C>T, NM_001301775.1:c.18C>T, NM_001301769.2:c.18C>T, NM_001301769.1:c.18C>T, NM_001301771.2:c.18C>T, NM_001301771.1:c.18C>T, NM_001301773.2:c.18C>T, NM_001301773.1:c.18C>T, NM_001301774.2:c.18C>T, NM_001301774.1:c.18C>T, XM_024450356.2:c.18C>T, XM_024450356.1:c.18C>T, XM_024450357.2:c.18C>T, XM_024450357.1:c.18C>T, XM_047434370.1:c.18C>T, XM_047434368.1:c.18C>T, XM_047434369.1:c.18C>T

                                      19.

                                      rs1396042215 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        16:21174083 (GRCh38)
                                        16:21185404 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:21174082:G:C
                                        Gene:
                                        LDAF1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (GnomAD_exomes)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.21174083G>C, NC_000016.9:g.21185404G>C, NM_020422.6:c.339G>C, NM_020422.5:c.339G>C, NM_020422.4:c.339G>C, XM_006721067.5:c.411G>C, XM_006721067.4:c.411G>C, XM_006721067.3:c.411G>C, XM_006721067.2:c.411G>C, XM_006721067.1:c.411G>C, XM_017023473.3:c.339G>C, XM_017023473.2:c.339G>C, XM_017023473.1:c.339G>C, XM_006721066.3:c.411G>C, XM_006721066.2:c.411G>C, XM_006721066.1:c.411G>C, XM_017023471.2:c.411G>C, XM_017023471.1:c.411G>C, XM_017023474.2:c.339G>C, XM_017023474.1:c.339G>C, NR_125971.2:n.582G>C, NR_125971.1:n.879G>C, NM_001301775.2:c.411G>C, NM_001301775.1:c.411G>C, NM_001301769.2:c.339G>C, NM_001301769.1:c.339G>C, NM_001301771.2:c.339G>C, NM_001301771.1:c.339G>C, XM_024450356.2:c.339G>C, XM_024450356.1:c.339G>C, XM_024450357.2:c.339G>C, XM_024450357.1:c.339G>C, XM_047434370.1:c.339G>C, XM_047434368.1:c.411G>C, XM_047434369.1:c.339G>C, NP_065155.3:p.Met113Ile, XP_006721130.1:p.Met137Ile, XP_016878962.1:p.Met113Ile, XP_006721129.1:p.Met137Ile, XP_016878960.1:p.Met137Ile, XP_016878963.1:p.Met113Ile, NP_001288704.1:p.Met137Ile, NP_001288698.1:p.Met113Ile, NP_001288700.1:p.Met113Ile, XP_024306124.1:p.Met113Ile, XP_024306125.1:p.Met113Ile, XP_047290326.1:p.Met113Ile, XP_047290324.1:p.Met137Ile, XP_047290325.1:p.Met113Ile

                                        20.

                                        rs1390604478 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          16:21161261 (GRCh38)
                                          16:21172582 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:21161260:T:G
                                          Gene:
                                          DNAH3 (Varview), LDAF1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000094/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.21161261T>G, NC_000016.9:g.21172582T>G, NG_052617.1:g.3181A>C, NM_020422.6:c.79T>G, NM_020422.5:c.79T>G, NM_020422.4:c.79T>G, XM_006721067.5:c.79T>G, XM_006721067.4:c.79T>G, XM_006721067.3:c.79T>G, XM_006721067.2:c.79T>G, XM_006721067.1:c.79T>G, XM_006721069.4:c.79T>G, XM_006721069.3:c.79T>G, XM_006721069.2:c.79T>G, XM_006721069.1:c.79T>G, XM_017023473.3:c.79T>G, XM_017023473.2:c.79T>G, XM_017023473.1:c.79T>G, XM_006721066.3:c.79T>G, XM_006721066.2:c.79T>G, XM_006721066.1:c.79T>G, XM_017023471.2:c.79T>G, XM_017023471.1:c.79T>G, XM_017023474.2:c.79T>G, XM_017023474.1:c.79T>G, NR_125971.2:n.250T>G, NR_125971.1:n.547T>G, NM_001301775.2:c.79T>G, NM_001301775.1:c.79T>G, NM_001301769.2:c.79T>G, NM_001301769.1:c.79T>G, NM_001301771.2:c.79T>G, NM_001301771.1:c.79T>G, NM_001301773.2:c.79T>G, NM_001301773.1:c.79T>G, NM_001301774.2:c.79T>G, NM_001301774.1:c.79T>G, XM_024450356.2:c.79T>G, XM_024450356.1:c.79T>G, XM_024450357.2:c.79T>G, XM_024450357.1:c.79T>G, XM_047434370.1:c.79T>G, XM_047434368.1:c.79T>G, XM_047434369.1:c.79T>G, NP_065155.3:p.Phe27Val, XP_006721130.1:p.Phe27Val, XP_006721132.1:p.Phe27Val, XP_016878962.1:p.Phe27Val, XP_006721129.1:p.Phe27Val, XP_016878960.1:p.Phe27Val, XP_016878963.1:p.Phe27Val, NP_001288704.1:p.Phe27Val, NP_001288698.1:p.Phe27Val, NP_001288700.1:p.Phe27Val, NP_001288702.1:p.Phe27Val, NP_001288703.1:p.Phe27Val, XP_024306124.1:p.Phe27Val, XP_024306125.1:p.Phe27Val, XP_047290326.1:p.Phe27Val, XP_047290324.1:p.Phe27Val, XP_047290325.1:p.Phe27Val

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