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Items: 1 to 20 of 1302

1.

rs1490916646 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    2:189711095 (GRCh38)
    2:190575821 (GRCh37)
    Canonical SPDI:
    NC_000002.12:189711094:G:C,NC_000002.12:189711094:G:T
    Gene:
    ANKAR (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.189711095G>C, NC_000002.12:g.189711095G>T, NC_000002.11:g.190575821G>C, NC_000002.11:g.190575821G>T, XM_011510676.3:c.2166G>C, XM_011510676.3:c.2166G>T, XM_011510676.2:c.2166G>C, XM_011510676.2:c.2166G>T, XM_011510676.1:c.2166G>C, XM_011510676.1:c.2166G>T, XM_011510673.3:c.2166G>C, XM_011510673.3:c.2166G>T, XM_011510673.2:c.2166G>C, XM_011510673.2:c.2166G>T, XM_011510673.1:c.2166G>C, XM_011510673.1:c.2166G>T, XM_011510677.3:c.2166G>C, XM_011510677.3:c.2166G>T, XM_011510677.2:c.2166G>C, XM_011510677.2:c.2166G>T, XM_011510677.1:c.2166G>C, XM_011510677.1:c.2166G>T, NM_144708.3:c.2166G>C, NM_144708.3:c.2166G>T, XM_011510682.3:c.2166G>C, XM_011510682.3:c.2166G>T, XM_011510682.2:c.2166G>C, XM_011510682.2:c.2166G>T, XM_011510682.1:c.2166G>C, XM_011510682.1:c.2166G>T, XM_011510679.3:c.2166G>C, XM_011510679.3:c.2166G>T, XM_011510679.2:c.2166G>C, XM_011510679.2:c.2166G>T, XM_011510679.1:c.2166G>C, XM_011510679.1:c.2166G>T, XM_011510685.3:c.1710G>C, XM_011510685.3:c.1710G>T, XM_011510685.2:c.1710G>C, XM_011510685.2:c.1710G>T, XM_011510685.1:c.1710G>C, XM_011510685.1:c.1710G>T, XM_011510686.3:c.2166G>C, XM_011510686.3:c.2166G>T, XM_011510686.2:c.2166G>C, XM_011510686.2:c.2166G>T, XM_011510686.1:c.2166G>C, XM_011510686.1:c.2166G>T, XR_922865.3:n.2362G>C, XR_922865.3:n.2362G>T, XR_922865.2:n.2740G>C, XR_922865.2:n.2740G>T, XR_922865.1:n.2740G>C, XR_922865.1:n.2740G>T, XM_011510680.2:c.2166G>C, XM_011510680.2:c.2166G>T, XM_011510680.1:c.2166G>C, XM_011510680.1:c.2166G>T, XM_017003413.2:c.2166G>C, XM_017003413.2:c.2166G>T, XM_017003413.1:c.2166G>C, XM_017003413.1:c.2166G>T, XM_011510681.2:c.2166G>C, XM_011510681.2:c.2166G>T, XM_011510681.1:c.2166G>C, XM_011510681.1:c.2166G>T, XM_011510688.2:c.2166G>C, XM_011510688.2:c.2166G>T, XM_011510688.1:c.2166G>C, XM_011510688.1:c.2166G>T, XR_001738640.2:n.2362G>C, XR_001738640.2:n.2362G>T, XR_001738640.1:n.2740G>C, XR_001738640.1:n.2740G>T, XM_017003417.2:c.2166G>C, XM_017003417.2:c.2166G>T, XM_017003417.1:c.2166G>C, XM_017003417.1:c.2166G>T, XM_024452719.2:c.2166G>C, XM_024452719.2:c.2166G>T, XM_024452719.1:c.2166G>C, XM_024452719.1:c.2166G>T, NM_001378068.1:c.2166G>C, NM_001378068.1:c.2166G>T, XM_047443451.1:c.2166G>C, XM_047443451.1:c.2166G>T, XM_047443452.1:c.2166G>C, XM_047443452.1:c.2166G>T, XM_047443453.1:c.2166G>C, XM_047443453.1:c.2166G>T, XM_047443454.1:c.2166G>C, XM_047443454.1:c.2166G>T, XM_047443455.1:c.879G>C, XM_047443455.1:c.879G>T, XM_047443456.1:c.690G>C, XM_047443456.1:c.690G>T, XP_011508978.1:p.Met722Ile, XP_011508978.1:p.Met722Ile, XP_011508975.1:p.Met722Ile, XP_011508975.1:p.Met722Ile, XP_011508979.1:p.Met722Ile, XP_011508979.1:p.Met722Ile, NP_653309.3:p.Met722Ile, NP_653309.3:p.Met722Ile, XP_011508984.1:p.Met722Ile, XP_011508984.1:p.Met722Ile, XP_011508981.1:p.Met722Ile, XP_011508981.1:p.Met722Ile, XP_011508987.1:p.Met570Ile, XP_011508987.1:p.Met570Ile, XP_011508988.1:p.Met722Ile, XP_011508988.1:p.Met722Ile, XP_011508982.1:p.Met722Ile, XP_011508982.1:p.Met722Ile, XP_016858902.1:p.Met722Ile, XP_016858902.1:p.Met722Ile, XP_011508983.1:p.Met722Ile, XP_011508983.1:p.Met722Ile, XP_011508990.1:p.Met722Ile, XP_011508990.1:p.Met722Ile, XP_016858906.1:p.Met722Ile, XP_016858906.1:p.Met722Ile, XP_024308487.1:p.Met722Ile, XP_024308487.1:p.Met722Ile, NP_001364997.1:p.Met722Ile, NP_001364997.1:p.Met722Ile, XP_047299407.1:p.Met722Ile, XP_047299407.1:p.Met722Ile, XP_047299408.1:p.Met722Ile, XP_047299408.1:p.Met722Ile, XP_047299409.1:p.Met722Ile, XP_047299409.1:p.Met722Ile, XP_047299410.1:p.Met722Ile, XP_047299410.1:p.Met722Ile, XP_047299411.1:p.Met293Ile, XP_047299411.1:p.Met293Ile, XP_047299412.1:p.Met230Ile, XP_047299412.1:p.Met230Ile

    2.

    rs1488679223 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      2:189689916 (GRCh38)
      2:190554642 (GRCh37)
      Canonical SPDI:
      NC_000002.12:189689915:A:C
      Gene:
      ANKAR (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.189689916A>C, NC_000002.11:g.190554642A>C, XM_011510676.3:c.991A>C, XM_011510676.2:c.991A>C, XM_011510676.1:c.991A>C, XM_011510673.3:c.991A>C, XM_011510673.2:c.991A>C, XM_011510673.1:c.991A>C, XM_011510677.3:c.991A>C, XM_011510677.2:c.991A>C, XM_011510677.1:c.991A>C, XM_011510675.3:c.991A>C, XM_011510675.2:c.991A>C, XM_011510675.1:c.991A>C, NM_144708.3:c.991A>C, XM_011510682.3:c.991A>C, XM_011510682.2:c.991A>C, XM_011510682.1:c.991A>C, XM_011510679.3:c.991A>C, XM_011510679.2:c.991A>C, XM_011510679.1:c.991A>C, XM_011510685.3:c.535A>C, XM_011510685.2:c.535A>C, XM_011510685.1:c.535A>C, XM_011510686.3:c.991A>C, XM_011510686.2:c.991A>C, XM_011510686.1:c.991A>C, XR_922865.3:n.1187A>C, XR_922865.2:n.1565A>C, XR_922865.1:n.1565A>C, XM_011510680.2:c.991A>C, XM_011510680.1:c.991A>C, XM_017003413.2:c.991A>C, XM_017003413.1:c.991A>C, XM_011510681.2:c.991A>C, XM_011510681.1:c.991A>C, XM_011510688.2:c.991A>C, XM_011510688.1:c.991A>C, XR_001738640.2:n.1187A>C, XR_001738640.1:n.1565A>C, XM_017003417.2:c.991A>C, XM_017003417.1:c.991A>C, XM_024452719.2:c.991A>C, XM_024452719.1:c.991A>C, NM_001378068.1:c.991A>C, XM_047443451.1:c.991A>C, XM_047443452.1:c.991A>C, XM_047443453.1:c.991A>C, XM_047443454.1:c.991A>C, XM_047443455.1:c.-133A>C, XM_047443456.1:c.-218A>C, XP_011508978.1:p.Lys331Gln, XP_011508975.1:p.Lys331Gln, XP_011508979.1:p.Lys331Gln, XP_011508977.1:p.Lys331Gln, NP_653309.3:p.Lys331Gln, XP_011508984.1:p.Lys331Gln, XP_011508981.1:p.Lys331Gln, XP_011508987.1:p.Lys179Gln, XP_011508988.1:p.Lys331Gln, XP_011508982.1:p.Lys331Gln, XP_016858902.1:p.Lys331Gln, XP_011508983.1:p.Lys331Gln, XP_011508990.1:p.Lys331Gln, XP_016858906.1:p.Lys331Gln, XP_024308487.1:p.Lys331Gln, NP_001364997.1:p.Lys331Gln, XP_047299407.1:p.Lys331Gln, XP_047299408.1:p.Lys331Gln, XP_047299409.1:p.Lys331Gln, XP_047299410.1:p.Lys331Gln

      3.

      rs1488226899 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:189676534 (GRCh38)
        2:190541260 (GRCh37)
        Canonical SPDI:
        NC_000002.12:189676533:T:C
        Gene:
        ANKAR (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        C=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.189676534T>C, NC_000002.11:g.190541260T>C, XM_011510676.3:c.44T>C, XM_011510676.2:c.44T>C, XM_011510676.1:c.44T>C, XM_011510673.3:c.44T>C, XM_011510673.2:c.44T>C, XM_011510673.1:c.44T>C, XM_011510677.3:c.44T>C, XM_011510677.2:c.44T>C, XM_011510677.1:c.44T>C, XM_011510675.3:c.44T>C, XM_011510675.2:c.44T>C, XM_011510675.1:c.44T>C, NM_144708.3:c.44T>C, XM_011510682.3:c.44T>C, XM_011510682.2:c.44T>C, XM_011510682.1:c.44T>C, XM_011510679.3:c.44T>C, XM_011510679.2:c.44T>C, XM_011510679.1:c.44T>C, XM_011510686.3:c.44T>C, XM_011510686.2:c.44T>C, XM_011510686.1:c.44T>C, XR_922865.3:n.240T>C, XR_922865.2:n.618T>C, XR_922865.1:n.618T>C, XM_011510680.2:c.44T>C, XM_011510680.1:c.44T>C, XM_017003413.2:c.44T>C, XM_017003413.1:c.44T>C, XM_011510681.2:c.44T>C, XM_011510681.1:c.44T>C, XM_011510688.2:c.44T>C, XM_011510688.1:c.44T>C, XR_001738640.2:n.240T>C, XR_001738640.1:n.618T>C, XM_017003417.2:c.44T>C, XM_017003417.1:c.44T>C, XM_024452719.2:c.44T>C, XM_024452719.1:c.44T>C, NM_001378068.1:c.44T>C, XM_047443451.1:c.44T>C, XM_047443452.1:c.44T>C, XM_047443453.1:c.44T>C, XM_047443454.1:c.44T>C, XP_011508978.1:p.Val15Ala, XP_011508975.1:p.Val15Ala, XP_011508979.1:p.Val15Ala, XP_011508977.1:p.Val15Ala, NP_653309.3:p.Val15Ala, XP_011508984.1:p.Val15Ala, XP_011508981.1:p.Val15Ala, XP_011508988.1:p.Val15Ala, XP_011508982.1:p.Val15Ala, XP_016858902.1:p.Val15Ala, XP_011508983.1:p.Val15Ala, XP_011508990.1:p.Val15Ala, XP_016858906.1:p.Val15Ala, XP_024308487.1:p.Val15Ala, NP_001364997.1:p.Val15Ala, XP_047299407.1:p.Val15Ala, XP_047299408.1:p.Val15Ala, XP_047299409.1:p.Val15Ala, XP_047299410.1:p.Val15Ala

        4.

        rs1487245768 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:189676889 (GRCh38)
          2:190541615 (GRCh37)
          Canonical SPDI:
          NC_000002.12:189676888:A:G
          Gene:
          ANKAR (Varview)
          Functional Consequence:
          intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000021/3 (GnomAD)
          G=0.000071/1 (TOMMO)
          HGVS:
          NC_000002.12:g.189676889A>G, NC_000002.11:g.190541615A>G, XM_011510676.3:c.399A>G, XM_011510676.2:c.399A>G, XM_011510676.1:c.399A>G, XM_011510673.3:c.399A>G, XM_011510673.2:c.399A>G, XM_011510673.1:c.399A>G, XM_011510677.3:c.399A>G, XM_011510677.2:c.399A>G, XM_011510677.1:c.399A>G, XM_011510675.3:c.399A>G, XM_011510675.2:c.399A>G, XM_011510675.1:c.399A>G, NM_144708.3:c.399A>G, XM_011510682.3:c.399A>G, XM_011510682.2:c.399A>G, XM_011510682.1:c.399A>G, XM_011510679.3:c.399A>G, XM_011510679.2:c.399A>G, XM_011510679.1:c.399A>G, XM_011510686.3:c.399A>G, XM_011510686.2:c.399A>G, XM_011510686.1:c.399A>G, XR_922865.3:n.595A>G, XR_922865.2:n.973A>G, XR_922865.1:n.973A>G, XM_011510680.2:c.399A>G, XM_011510680.1:c.399A>G, XM_017003413.2:c.399A>G, XM_017003413.1:c.399A>G, XM_011510681.2:c.399A>G, XM_011510681.1:c.399A>G, XM_011510688.2:c.399A>G, XM_011510688.1:c.399A>G, XR_001738640.2:n.595A>G, XR_001738640.1:n.973A>G, XM_017003417.2:c.399A>G, XM_017003417.1:c.399A>G, XM_024452719.2:c.399A>G, XM_024452719.1:c.399A>G, NM_001378068.1:c.399A>G, XM_047443451.1:c.399A>G, XM_047443452.1:c.399A>G, XM_047443453.1:c.399A>G, XM_047443454.1:c.399A>G

          5.

          rs1486784723 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            2:189676549 (GRCh38)
            2:190541275 (GRCh37)
            Canonical SPDI:
            NC_000002.12:189676548:C:G
            Gene:
            ANKAR (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000015/4 (TOPMED)
            HGVS:
            NC_000002.12:g.189676549C>G, NC_000002.11:g.190541275C>G, XM_011510676.3:c.59C>G, XM_011510676.2:c.59C>G, XM_011510676.1:c.59C>G, XM_011510673.3:c.59C>G, XM_011510673.2:c.59C>G, XM_011510673.1:c.59C>G, XM_011510677.3:c.59C>G, XM_011510677.2:c.59C>G, XM_011510677.1:c.59C>G, XM_011510675.3:c.59C>G, XM_011510675.2:c.59C>G, XM_011510675.1:c.59C>G, NM_144708.3:c.59C>G, XM_011510682.3:c.59C>G, XM_011510682.2:c.59C>G, XM_011510682.1:c.59C>G, XM_011510679.3:c.59C>G, XM_011510679.2:c.59C>G, XM_011510679.1:c.59C>G, XM_011510686.3:c.59C>G, XM_011510686.2:c.59C>G, XM_011510686.1:c.59C>G, XR_922865.3:n.255C>G, XR_922865.2:n.633C>G, XR_922865.1:n.633C>G, XM_011510680.2:c.59C>G, XM_011510680.1:c.59C>G, XM_017003413.2:c.59C>G, XM_017003413.1:c.59C>G, XM_011510681.2:c.59C>G, XM_011510681.1:c.59C>G, XM_011510688.2:c.59C>G, XM_011510688.1:c.59C>G, XR_001738640.2:n.255C>G, XR_001738640.1:n.633C>G, XM_017003417.2:c.59C>G, XM_017003417.1:c.59C>G, XM_024452719.2:c.59C>G, XM_024452719.1:c.59C>G, NM_001378068.1:c.59C>G, XM_047443451.1:c.59C>G, XM_047443452.1:c.59C>G, XM_047443453.1:c.59C>G, XM_047443454.1:c.59C>G, XP_011508978.1:p.Thr20Ser, XP_011508975.1:p.Thr20Ser, XP_011508979.1:p.Thr20Ser, XP_011508977.1:p.Thr20Ser, NP_653309.3:p.Thr20Ser, XP_011508984.1:p.Thr20Ser, XP_011508981.1:p.Thr20Ser, XP_011508988.1:p.Thr20Ser, XP_011508982.1:p.Thr20Ser, XP_016858902.1:p.Thr20Ser, XP_011508983.1:p.Thr20Ser, XP_011508990.1:p.Thr20Ser, XP_016858906.1:p.Thr20Ser, XP_024308487.1:p.Thr20Ser, NP_001364997.1:p.Thr20Ser, XP_047299407.1:p.Thr20Ser, XP_047299408.1:p.Thr20Ser, XP_047299409.1:p.Thr20Ser, XP_047299410.1:p.Thr20Ser

            6.

            rs1486096929 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              2:189676962 (GRCh38)
              2:190541688 (GRCh37)
              Canonical SPDI:
              NC_000002.12:189676961:T:G
              Gene:
              ANKAR (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000002.12:g.189676962T>G, NC_000002.11:g.190541688T>G, XM_011510676.3:c.472T>G, XM_011510676.2:c.472T>G, XM_011510676.1:c.472T>G, XM_011510673.3:c.472T>G, XM_011510673.2:c.472T>G, XM_011510673.1:c.472T>G, XM_011510677.3:c.472T>G, XM_011510677.2:c.472T>G, XM_011510677.1:c.472T>G, XM_011510675.3:c.472T>G, XM_011510675.2:c.472T>G, XM_011510675.1:c.472T>G, NM_144708.3:c.472T>G, XM_011510682.3:c.472T>G, XM_011510682.2:c.472T>G, XM_011510682.1:c.472T>G, XM_011510679.3:c.472T>G, XM_011510679.2:c.472T>G, XM_011510679.1:c.472T>G, XM_011510685.3:c.16T>G, XM_011510685.2:c.16T>G, XM_011510685.1:c.16T>G, XM_011510686.3:c.472T>G, XM_011510686.2:c.472T>G, XM_011510686.1:c.472T>G, XR_922865.3:n.668T>G, XR_922865.2:n.1046T>G, XR_922865.1:n.1046T>G, XM_011510680.2:c.472T>G, XM_011510680.1:c.472T>G, XM_017003413.2:c.472T>G, XM_017003413.1:c.472T>G, XM_011510681.2:c.472T>G, XM_011510681.1:c.472T>G, XM_011510688.2:c.472T>G, XM_011510688.1:c.472T>G, XR_001738640.2:n.668T>G, XR_001738640.1:n.1046T>G, XM_017003417.2:c.472T>G, XM_017003417.1:c.472T>G, XM_024452719.2:c.472T>G, XM_024452719.1:c.472T>G, NM_001378068.1:c.472T>G, XM_047443451.1:c.472T>G, XM_047443452.1:c.472T>G, XM_047443453.1:c.472T>G, XM_047443454.1:c.472T>G, XP_011508978.1:p.Trp158Gly, XP_011508975.1:p.Trp158Gly, XP_011508979.1:p.Trp158Gly, XP_011508977.1:p.Trp158Gly, NP_653309.3:p.Trp158Gly, XP_011508984.1:p.Trp158Gly, XP_011508981.1:p.Trp158Gly, XP_011508987.1:p.Trp6Gly, XP_011508988.1:p.Trp158Gly, XP_011508982.1:p.Trp158Gly, XP_016858902.1:p.Trp158Gly, XP_011508983.1:p.Trp158Gly, XP_011508990.1:p.Trp158Gly, XP_016858906.1:p.Trp158Gly, XP_024308487.1:p.Trp158Gly, NP_001364997.1:p.Trp158Gly, XP_047299407.1:p.Trp158Gly, XP_047299408.1:p.Trp158Gly, XP_047299409.1:p.Trp158Gly, XP_047299410.1:p.Trp158Gly

              7.

              rs1485974833 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:189746569 (GRCh38)
                2:190611295 (GRCh37)
                Canonical SPDI:
                NC_000002.12:189746568:G:A
                Gene:
                OSGEPL1 (Varview), ANKAR (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                A=0.000012/3 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.189746569G>A, NC_000002.11:g.190611295G>A, XM_011510673.3:c.4280G>A, XM_011510673.2:c.4280G>A, XM_011510673.1:c.4280G>A, XM_011510675.3:c.4175G>A, XM_011510675.2:c.4175G>A, XM_011510675.1:c.4175G>A, NM_144708.3:c.4247G>A, XM_011510679.3:c.3851G>A, XM_011510679.2:c.3851G>A, XM_011510679.1:c.3851G>A, XM_011510685.3:c.3824G>A, XM_011510685.2:c.3824G>A, XM_011510685.1:c.3824G>A, XM_011510686.3:c.3773G>A, XM_011510686.2:c.3773G>A, XM_011510686.1:c.3773G>A, XM_011510680.2:c.*195G>A, XM_011510680.1:c.*195G>A, NM_001378068.1:c.4247G>A, XM_047443455.1:c.2993G>A, XM_047443456.1:c.2804G>A, XP_011508975.1:p.Cys1427Tyr, XP_011508977.1:p.Cys1392Tyr, NP_653309.3:p.Cys1416Tyr, XP_011508981.1:p.Cys1284Tyr, XP_011508987.1:p.Cys1275Tyr, XP_011508988.1:p.Cys1258Tyr, NP_001364997.1:p.Cys1416Tyr, XP_047299411.1:p.Cys998Tyr, XP_047299412.1:p.Cys935Tyr

                8.

                rs1484967353 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:189733171 (GRCh38)
                  2:190597897 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:189733170:A:G
                  Gene:
                  ANKAR (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000002.12:g.189733171A>G, NC_000002.11:g.190597897A>G, XM_011510676.3:c.3398A>G, XM_011510676.2:c.3398A>G, XM_011510676.1:c.3398A>G, XM_011510673.3:c.3398A>G, XM_011510673.2:c.3398A>G, XM_011510673.1:c.3398A>G, XM_011510677.3:c.3398A>G, XM_011510677.2:c.3398A>G, XM_011510677.1:c.3398A>G, XM_011510675.3:c.3293A>G, XM_011510675.2:c.3293A>G, XM_011510675.1:c.3293A>G, NM_144708.3:c.3365A>G, XM_011510682.3:c.3398A>G, XM_011510682.2:c.3398A>G, XM_011510682.1:c.3398A>G, XM_011510679.3:c.2969A>G, XM_011510679.2:c.2969A>G, XM_011510679.1:c.2969A>G, XM_011510685.3:c.2942A>G, XM_011510685.2:c.2942A>G, XM_011510685.1:c.2942A>G, XR_922865.3:n.3733A>G, XR_922865.2:n.4111A>G, XR_922865.1:n.4111A>G, XM_011510680.2:c.3398A>G, XM_011510680.1:c.3398A>G, XM_017003413.2:c.3398A>G, XM_017003413.1:c.3398A>G, XM_011510681.2:c.3398A>G, XM_011510681.1:c.3398A>G, XM_011510688.2:c.3398A>G, XM_011510688.1:c.3398A>G, XR_001738640.2:n.3773A>G, NM_001378068.1:c.3365A>G, XM_047443455.1:c.2111A>G, XM_047443456.1:c.1922A>G, XP_011508978.1:p.His1133Arg, XP_011508975.1:p.His1133Arg, XP_011508979.1:p.His1133Arg, XP_011508977.1:p.His1098Arg, NP_653309.3:p.His1122Arg, XP_011508984.1:p.His1133Arg, XP_011508981.1:p.His990Arg, XP_011508987.1:p.His981Arg, XP_011508982.1:p.His1133Arg, XP_016858902.1:p.His1133Arg, XP_011508983.1:p.His1133Arg, XP_011508990.1:p.His1133Arg, NP_001364997.1:p.His1122Arg, XP_047299411.1:p.His704Arg, XP_047299412.1:p.His641Arg

                  9.

                  rs1484838240 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    2:189676756 (GRCh38)
                    2:190541482 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:189676755:T:G
                    Gene:
                    ANKAR (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000002.12:g.189676756T>G, NC_000002.11:g.190541482T>G, XM_011510676.3:c.266T>G, XM_011510676.2:c.266T>G, XM_011510676.1:c.266T>G, XM_011510673.3:c.266T>G, XM_011510673.2:c.266T>G, XM_011510673.1:c.266T>G, XM_011510677.3:c.266T>G, XM_011510677.2:c.266T>G, XM_011510677.1:c.266T>G, XM_011510675.3:c.266T>G, XM_011510675.2:c.266T>G, XM_011510675.1:c.266T>G, NM_144708.3:c.266T>G, XM_011510682.3:c.266T>G, XM_011510682.2:c.266T>G, XM_011510682.1:c.266T>G, XM_011510679.3:c.266T>G, XM_011510679.2:c.266T>G, XM_011510679.1:c.266T>G, XM_011510686.3:c.266T>G, XM_011510686.2:c.266T>G, XM_011510686.1:c.266T>G, XR_922865.3:n.462T>G, XR_922865.2:n.840T>G, XR_922865.1:n.840T>G, XM_011510680.2:c.266T>G, XM_011510680.1:c.266T>G, XM_017003413.2:c.266T>G, XM_017003413.1:c.266T>G, XM_011510681.2:c.266T>G, XM_011510681.1:c.266T>G, XM_011510688.2:c.266T>G, XM_011510688.1:c.266T>G, XR_001738640.2:n.462T>G, XR_001738640.1:n.840T>G, XM_017003417.2:c.266T>G, XM_017003417.1:c.266T>G, XM_024452719.2:c.266T>G, XM_024452719.1:c.266T>G, NM_001378068.1:c.266T>G, XM_047443451.1:c.266T>G, XM_047443452.1:c.266T>G, XM_047443453.1:c.266T>G, XM_047443454.1:c.266T>G, XP_011508978.1:p.Val89Gly, XP_011508975.1:p.Val89Gly, XP_011508979.1:p.Val89Gly, XP_011508977.1:p.Val89Gly, NP_653309.3:p.Val89Gly, XP_011508984.1:p.Val89Gly, XP_011508981.1:p.Val89Gly, XP_011508988.1:p.Val89Gly, XP_011508982.1:p.Val89Gly, XP_016858902.1:p.Val89Gly, XP_011508983.1:p.Val89Gly, XP_011508990.1:p.Val89Gly, XP_016858906.1:p.Val89Gly, XP_024308487.1:p.Val89Gly, NP_001364997.1:p.Val89Gly, XP_047299407.1:p.Val89Gly, XP_047299408.1:p.Val89Gly, XP_047299409.1:p.Val89Gly, XP_047299410.1:p.Val89Gly

                    10.

                    rs1483853376 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:189728287 (GRCh38)
                      2:190593013 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:189728286:G:A
                      Gene:
                      ANKAR (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.189728287G>A, NC_000002.11:g.190593013G>A, XM_011510676.3:c.2931G>A, XM_011510676.2:c.2931G>A, XM_011510676.1:c.2931G>A, XM_011510673.3:c.2931G>A, XM_011510673.2:c.2931G>A, XM_011510673.1:c.2931G>A, XM_011510677.3:c.2931G>A, XM_011510677.2:c.2931G>A, XM_011510677.1:c.2931G>A, XM_011510675.3:c.2826G>A, XM_011510675.2:c.2826G>A, XM_011510675.1:c.2826G>A, NM_144708.3:c.2898G>A, XM_011510682.3:c.2931G>A, XM_011510682.2:c.2931G>A, XM_011510682.1:c.2931G>A, XM_011510685.3:c.2475G>A, XM_011510685.2:c.2475G>A, XM_011510685.1:c.2475G>A, XM_011510686.3:c.2931G>A, XM_011510686.2:c.2931G>A, XM_011510686.1:c.2931G>A, XR_922865.3:n.3127G>A, XR_922865.2:n.3505G>A, XR_922865.1:n.3505G>A, XM_011510680.2:c.2931G>A, XM_011510680.1:c.2931G>A, XM_017003413.2:c.2931G>A, XM_017003413.1:c.2931G>A, XM_011510681.2:c.2931G>A, XM_011510681.1:c.2931G>A, XM_011510688.2:c.2931G>A, XM_011510688.1:c.2931G>A, XR_001738640.2:n.3127G>A, XR_001738640.1:n.3505G>A, NM_001378068.1:c.2898G>A, XM_047443451.1:c.2898G>A, XM_047443452.1:c.2931G>A, XM_047443453.1:c.2898G>A, XM_047443454.1:c.2931G>A, XM_047443455.1:c.1644G>A, XM_047443456.1:c.1455G>A

                      11.

                      rs1483706548 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:189719751 (GRCh38)
                        2:190584477 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:189719750:C:T
                        Gene:
                        ANKAR (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.189719751C>T, NC_000002.11:g.190584477C>T, XM_011510676.3:c.2404C>T, XM_011510676.2:c.2404C>T, XM_011510676.1:c.2404C>T, XM_011510673.3:c.2404C>T, XM_011510673.2:c.2404C>T, XM_011510673.1:c.2404C>T, XM_011510677.3:c.2404C>T, XM_011510677.2:c.2404C>T, XM_011510677.1:c.2404C>T, XM_011510675.3:c.2299C>T, XM_011510675.2:c.2299C>T, XM_011510675.1:c.2299C>T, NM_144708.3:c.2404C>T, XM_011510682.3:c.2404C>T, XM_011510682.2:c.2404C>T, XM_011510682.1:c.2404C>T, XM_011510679.3:c.2404C>T, XM_011510679.2:c.2404C>T, XM_011510679.1:c.2404C>T, XM_011510685.3:c.1948C>T, XM_011510685.2:c.1948C>T, XM_011510685.1:c.1948C>T, XM_011510686.3:c.2404C>T, XM_011510686.2:c.2404C>T, XM_011510686.1:c.2404C>T, XR_922865.3:n.2600C>T, XR_922865.2:n.2978C>T, XR_922865.1:n.2978C>T, XM_011510680.2:c.2404C>T, XM_011510680.1:c.2404C>T, XM_017003413.2:c.2404C>T, XM_017003413.1:c.2404C>T, XM_011510681.2:c.2404C>T, XM_011510681.1:c.2404C>T, XM_011510688.2:c.2404C>T, XM_011510688.1:c.2404C>T, XR_001738640.2:n.2600C>T, XR_001738640.1:n.2978C>T, XM_017003417.2:c.2404C>T, XM_017003417.1:c.2404C>T, XM_024452719.2:c.2404C>T, XM_024452719.1:c.2404C>T, NM_001378068.1:c.2404C>T, XM_047443451.1:c.2404C>T, XM_047443452.1:c.2404C>T, XM_047443453.1:c.2404C>T, XM_047443454.1:c.2404C>T, XM_047443455.1:c.1117C>T, XM_047443456.1:c.928C>T, XP_011508978.1:p.Arg802Cys, XP_011508975.1:p.Arg802Cys, XP_011508979.1:p.Arg802Cys, XP_011508977.1:p.Arg767Cys, NP_653309.3:p.Arg802Cys, XP_011508984.1:p.Arg802Cys, XP_011508981.1:p.Arg802Cys, XP_011508987.1:p.Arg650Cys, XP_011508988.1:p.Arg802Cys, XP_011508982.1:p.Arg802Cys, XP_016858902.1:p.Arg802Cys, XP_011508983.1:p.Arg802Cys, XP_011508990.1:p.Arg802Cys, XP_016858906.1:p.Arg802Cys, XP_024308487.1:p.Arg802Cys, NP_001364997.1:p.Arg802Cys, XP_047299407.1:p.Arg802Cys, XP_047299408.1:p.Arg802Cys, XP_047299409.1:p.Arg802Cys, XP_047299410.1:p.Arg802Cys, XP_047299411.1:p.Arg373Cys, XP_047299412.1:p.Arg310Cys

                        12.

                        rs1483583624 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          2:189728742 (GRCh38)
                          2:190593468 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:189728741:G:T
                          Gene:
                          ANKAR (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000051/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000002.12:g.189728742G>T, NC_000002.11:g.190593468G>T, XM_011510676.3:c.3147G>T, XM_011510676.2:c.3147G>T, XM_011510676.1:c.3147G>T, XM_011510673.3:c.3147G>T, XM_011510673.2:c.3147G>T, XM_011510673.1:c.3147G>T, XM_011510677.3:c.3147G>T, XM_011510677.2:c.3147G>T, XM_011510677.1:c.3147G>T, XM_011510675.3:c.3042G>T, XM_011510675.2:c.3042G>T, XM_011510675.1:c.3042G>T, NM_144708.3:c.3114G>T, XM_011510682.3:c.3147G>T, XM_011510682.2:c.3147G>T, XM_011510682.1:c.3147G>T, XM_011510679.3:c.2718G>T, XM_011510679.2:c.2718G>T, XM_011510679.1:c.2718G>T, XM_011510685.3:c.2691G>T, XM_011510685.2:c.2691G>T, XM_011510685.1:c.2691G>T, XM_011510686.3:c.3147G>T, XM_011510686.2:c.3147G>T, XM_011510686.1:c.3147G>T, XR_922865.3:n.3343G>T, XR_922865.2:n.3721G>T, XR_922865.1:n.3721G>T, XM_011510680.2:c.3147G>T, XM_011510680.1:c.3147G>T, XM_017003413.2:c.3147G>T, XM_017003413.1:c.3147G>T, XM_011510681.2:c.3147G>T, XM_011510681.1:c.3147G>T, XM_011510688.2:c.3147G>T, XM_011510688.1:c.3147G>T, XR_001738640.2:n.3343G>T, XR_001738640.1:n.3721G>T, NM_001378068.1:c.3114G>T, XM_047443451.1:c.3114G>T, XM_047443452.1:c.3147G>T, XM_047443453.1:c.3114G>T, XM_047443455.1:c.1860G>T, XM_047443456.1:c.1671G>T, XP_011508978.1:p.Leu1049Phe, XP_011508975.1:p.Leu1049Phe, XP_011508979.1:p.Leu1049Phe, XP_011508977.1:p.Leu1014Phe, NP_653309.3:p.Leu1038Phe, XP_011508984.1:p.Leu1049Phe, XP_011508981.1:p.Leu906Phe, XP_011508987.1:p.Leu897Phe, XP_011508988.1:p.Leu1049Phe, XP_011508982.1:p.Leu1049Phe, XP_016858902.1:p.Leu1049Phe, XP_011508983.1:p.Leu1049Phe, XP_011508990.1:p.Leu1049Phe, NP_001364997.1:p.Leu1038Phe, XP_047299407.1:p.Leu1038Phe, XP_047299408.1:p.Leu1049Phe, XP_047299409.1:p.Leu1038Phe, XP_047299411.1:p.Leu620Phe, XP_047299412.1:p.Leu557Phe

                          13.

                          rs1483556066 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:189677036 (GRCh38)
                            2:190541762 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:189677035:T:C
                            Gene:
                            ANKAR (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                            HGVS:
                            NC_000002.12:g.189677036T>C, NC_000002.11:g.190541762T>C, XM_011510676.3:c.546T>C, XM_011510676.2:c.546T>C, XM_011510676.1:c.546T>C, XM_011510673.3:c.546T>C, XM_011510673.2:c.546T>C, XM_011510673.1:c.546T>C, XM_011510677.3:c.546T>C, XM_011510677.2:c.546T>C, XM_011510677.1:c.546T>C, XM_011510675.3:c.546T>C, XM_011510675.2:c.546T>C, XM_011510675.1:c.546T>C, NM_144708.3:c.546T>C, XM_011510682.3:c.546T>C, XM_011510682.2:c.546T>C, XM_011510682.1:c.546T>C, XM_011510679.3:c.546T>C, XM_011510679.2:c.546T>C, XM_011510679.1:c.546T>C, XM_011510685.3:c.90T>C, XM_011510685.2:c.90T>C, XM_011510685.1:c.90T>C, XM_011510686.3:c.546T>C, XM_011510686.2:c.546T>C, XM_011510686.1:c.546T>C, XR_922865.3:n.742T>C, XR_922865.2:n.1120T>C, XR_922865.1:n.1120T>C, XM_011510680.2:c.546T>C, XM_011510680.1:c.546T>C, XM_017003413.2:c.546T>C, XM_017003413.1:c.546T>C, XM_011510681.2:c.546T>C, XM_011510681.1:c.546T>C, XM_011510688.2:c.546T>C, XM_011510688.1:c.546T>C, XR_001738640.2:n.742T>C, XR_001738640.1:n.1120T>C, XM_017003417.2:c.546T>C, XM_017003417.1:c.546T>C, XM_024452719.2:c.546T>C, XM_024452719.1:c.546T>C, NM_001378068.1:c.546T>C, XM_047443451.1:c.546T>C, XM_047443452.1:c.546T>C, XM_047443453.1:c.546T>C, XM_047443454.1:c.546T>C

                            14.

                            rs1483550796 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:189733155 (GRCh38)
                              2:190597881 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:189733154:T:C
                              Gene:
                              ANKAR (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.189733155T>C, NC_000002.11:g.190597881T>C, XM_011510676.3:c.3382T>C, XM_011510676.2:c.3382T>C, XM_011510676.1:c.3382T>C, XM_011510673.3:c.3382T>C, XM_011510673.2:c.3382T>C, XM_011510673.1:c.3382T>C, XM_011510677.3:c.3382T>C, XM_011510677.2:c.3382T>C, XM_011510677.1:c.3382T>C, XM_011510675.3:c.3277T>C, XM_011510675.2:c.3277T>C, XM_011510675.1:c.3277T>C, NM_144708.3:c.3349T>C, XM_011510682.3:c.3382T>C, XM_011510682.2:c.3382T>C, XM_011510682.1:c.3382T>C, XM_011510679.3:c.2953T>C, XM_011510679.2:c.2953T>C, XM_011510679.1:c.2953T>C, XM_011510685.3:c.2926T>C, XM_011510685.2:c.2926T>C, XM_011510685.1:c.2926T>C, XR_922865.3:n.3717T>C, XR_922865.2:n.4095T>C, XR_922865.1:n.4095T>C, XM_011510680.2:c.3382T>C, XM_011510680.1:c.3382T>C, XM_017003413.2:c.3382T>C, XM_017003413.1:c.3382T>C, XM_011510681.2:c.3382T>C, XM_011510681.1:c.3382T>C, XM_011510688.2:c.3382T>C, XM_011510688.1:c.3382T>C, XR_001738640.2:n.3757T>C, XR_001738640.1:n.4135T>C, NM_001378068.1:c.3349T>C, XM_047443455.1:c.2095T>C, XM_047443456.1:c.1906T>C

                              15.

                              rs1482219792 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TGC>- [Show Flanks]
                                Chromosome:
                                2:189727881 (GRCh38)
                                2:190592607 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:189727876:CTGCTGC:CTGC
                                Gene:
                                ANKAR (Varview)
                                Functional Consequence:
                                inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CTGC=0./0 (ALFA)
                                -=0.000004/1 (GnomAD_exomes)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.189727878TGC[1], NC_000002.11:g.190592604TGC[1], XM_011510676.3:c.2691TGC[1], XM_011510676.2:c.2691TGC[1], XM_011510676.1:c.2691TGC[1], XM_011510673.3:c.2691TGC[1], XM_011510673.2:c.2691TGC[1], XM_011510673.1:c.2691TGC[1], XM_011510677.3:c.2691TGC[1], XM_011510677.2:c.2691TGC[1], XM_011510677.1:c.2691TGC[1], XM_011510675.3:c.2586TGC[1], XM_011510675.2:c.2586TGC[1], XM_011510675.1:c.2586TGC[1], NM_144708.3:c.2658TGC[1], XM_011510682.3:c.2691TGC[1], XM_011510682.2:c.2691TGC[1], XM_011510682.1:c.2691TGC[1], XM_011510685.3:c.2235TGC[1], XM_011510685.2:c.2235TGC[1], XM_011510685.1:c.2235TGC[1], XM_011510686.3:c.2691TGC[1], XM_011510686.2:c.2691TGC[1], XM_011510686.1:c.2691TGC[1], XR_922865.3:n.2887TGC[1], XR_922865.2:n.3265TGC[1], XR_922865.1:n.3265TGC[1], XM_011510680.2:c.2691TGC[1], XM_011510680.1:c.2691TGC[1], XM_017003413.2:c.2691TGC[1], XM_017003413.1:c.2691TGC[1], XM_011510681.2:c.2691TGC[1], XM_011510681.1:c.2691TGC[1], XM_011510688.2:c.2691TGC[1], XM_011510688.1:c.2691TGC[1], XR_001738640.2:n.2887TGC[1], XR_001738640.1:n.3265TGC[1], XM_024452719.2:c.*14TGC[1], XM_024452719.1:c.*14TGC[1], NM_001378068.1:c.2658TGC[1], XM_047443451.1:c.2658TGC[1], XM_047443452.1:c.2691TGC[1], XM_047443453.1:c.2658TGC[1], XM_047443454.1:c.2691TGC[1], XM_047443455.1:c.1404TGC[1], XM_047443456.1:c.1215TGC[1], XP_011508978.1:p.Ala899del, XP_011508975.1:p.Ala899del, XP_011508979.1:p.Ala899del, XP_011508977.1:p.Ala864del, NP_653309.3:p.Ala888del, XP_011508984.1:p.Ala899del, XP_011508987.1:p.Ala747del, XP_011508988.1:p.Ala899del, XP_011508982.1:p.Ala899del, XP_016858902.1:p.Ala899del, XP_011508983.1:p.Ala899del, XP_011508990.1:p.Ala899del, NP_001364997.1:p.Ala888del, XP_047299407.1:p.Ala888del, XP_047299408.1:p.Ala899del, XP_047299409.1:p.Ala888del, XP_047299410.1:p.Ala899del, XP_047299411.1:p.Ala470del, XP_047299412.1:p.Ala407del

                                16.

                                rs1479908923 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:189695103 (GRCh38)
                                  2:190559829 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:189695102:C:T
                                  Gene:
                                  ANKAR (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000028/1 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.189695103C>T, NC_000002.11:g.190559829C>T, XM_011510676.3:c.1430C>T, XM_011510676.2:c.1430C>T, XM_011510676.1:c.1430C>T, XM_011510673.3:c.1430C>T, XM_011510673.2:c.1430C>T, XM_011510673.1:c.1430C>T, XM_011510677.3:c.1430C>T, XM_011510677.2:c.1430C>T, XM_011510677.1:c.1430C>T, XM_011510675.3:c.1430C>T, XM_011510675.2:c.1430C>T, XM_011510675.1:c.1430C>T, NM_144708.3:c.1430C>T, XM_011510682.3:c.1430C>T, XM_011510682.2:c.1430C>T, XM_011510682.1:c.1430C>T, XM_011510679.3:c.1430C>T, XM_011510679.2:c.1430C>T, XM_011510679.1:c.1430C>T, XM_011510685.3:c.974C>T, XM_011510685.2:c.974C>T, XM_011510685.1:c.974C>T, XM_011510686.3:c.1430C>T, XM_011510686.2:c.1430C>T, XM_011510686.1:c.1430C>T, XR_922865.3:n.1626C>T, XR_922865.2:n.2004C>T, XR_922865.1:n.2004C>T, XM_011510680.2:c.1430C>T, XM_011510680.1:c.1430C>T, XM_017003413.2:c.1430C>T, XM_017003413.1:c.1430C>T, XM_011510681.2:c.1430C>T, XM_011510681.1:c.1430C>T, XM_011510688.2:c.1430C>T, XM_011510688.1:c.1430C>T, XR_001738640.2:n.1626C>T, XR_001738640.1:n.2004C>T, XM_017003417.2:c.1430C>T, XM_017003417.1:c.1430C>T, XM_024452719.2:c.1430C>T, XM_024452719.1:c.1430C>T, NM_001378068.1:c.1430C>T, XM_047443451.1:c.1430C>T, XM_047443452.1:c.1430C>T, XM_047443453.1:c.1430C>T, XM_047443454.1:c.1430C>T, XM_047443455.1:c.143C>T, XM_047443456.1:c.-47C>T, XP_011508978.1:p.Ala477Val, XP_011508975.1:p.Ala477Val, XP_011508979.1:p.Ala477Val, XP_011508977.1:p.Ala477Val, NP_653309.3:p.Ala477Val, XP_011508984.1:p.Ala477Val, XP_011508981.1:p.Ala477Val, XP_011508987.1:p.Ala325Val, XP_011508988.1:p.Ala477Val, XP_011508982.1:p.Ala477Val, XP_016858902.1:p.Ala477Val, XP_011508983.1:p.Ala477Val, XP_011508990.1:p.Ala477Val, XP_016858906.1:p.Ala477Val, XP_024308487.1:p.Ala477Val, NP_001364997.1:p.Ala477Val, XP_047299407.1:p.Ala477Val, XP_047299408.1:p.Ala477Val, XP_047299409.1:p.Ala477Val, XP_047299410.1:p.Ala477Val, XP_047299411.1:p.Ala48Val

                                  17.

                                  rs1479650352 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:189738642 (GRCh38)
                                    2:190603368 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:189738641:T:C
                                    Gene:
                                    ANKAR (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.189738642T>C, NC_000002.11:g.190603368T>C, XM_011510676.3:c.3693T>C, XM_011510676.2:c.3693T>C, XM_011510676.1:c.3693T>C, XM_011510673.3:c.3693T>C, XM_011510673.2:c.3693T>C, XM_011510673.1:c.3693T>C, XM_011510677.3:c.3693T>C, XM_011510677.2:c.3693T>C, XM_011510677.1:c.3693T>C, XM_011510675.3:c.3588T>C, XM_011510675.2:c.3588T>C, XM_011510675.1:c.3588T>C, NM_144708.3:c.3660T>C, XM_011510682.3:c.3693T>C, XM_011510682.2:c.3693T>C, XM_011510682.1:c.3693T>C, XM_011510679.3:c.3264T>C, XM_011510679.2:c.3264T>C, XM_011510679.1:c.3264T>C, XM_011510685.3:c.3237T>C, XM_011510685.2:c.3237T>C, XM_011510685.1:c.3237T>C, XM_011510680.2:c.3693T>C, XM_011510680.1:c.3693T>C, XM_017003413.2:c.3693T>C, XM_017003413.1:c.3693T>C, XM_011510681.2:c.3693T>C, XM_011510681.1:c.3693T>C, NM_001378068.1:c.3660T>C, XM_047443455.1:c.2406T>C, XM_047443456.1:c.2217T>C

                                    18.

                                    rs1479559321 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      2:189741399 (GRCh38)
                                      2:190606125 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:189741398:C:G,NC_000002.12:189741398:C:T
                                      Gene:
                                      ANKAR (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.189741399C>G, NC_000002.12:g.189741399C>T, NC_000002.11:g.190606125C>G, NC_000002.11:g.190606125C>T, XM_011510676.3:c.3791C>G, XM_011510676.3:c.3791C>T, XM_011510676.2:c.3791C>G, XM_011510676.2:c.3791C>T, XM_011510676.1:c.3791C>G, XM_011510676.1:c.3791C>T, XM_011510673.3:c.3791C>G, XM_011510673.3:c.3791C>T, XM_011510673.2:c.3791C>G, XM_011510673.2:c.3791C>T, XM_011510673.1:c.3791C>G, XM_011510673.1:c.3791C>T, XM_011510677.3:c.3791C>G, XM_011510677.3:c.3791C>T, XM_011510677.2:c.3791C>G, XM_011510677.2:c.3791C>T, XM_011510677.1:c.3791C>G, XM_011510677.1:c.3791C>T, XM_011510675.3:c.3686C>G, XM_011510675.3:c.3686C>T, XM_011510675.2:c.3686C>G, XM_011510675.2:c.3686C>T, XM_011510675.1:c.3686C>G, XM_011510675.1:c.3686C>T, NM_144708.3:c.3758C>G, NM_144708.3:c.3758C>T, XM_011510682.3:c.3791C>G, XM_011510682.3:c.3791C>T, XM_011510682.2:c.3791C>G, XM_011510682.2:c.3791C>T, XM_011510682.1:c.3791C>G, XM_011510682.1:c.3791C>T, XM_011510679.3:c.3362C>G, XM_011510679.3:c.3362C>T, XM_011510679.2:c.3362C>G, XM_011510679.2:c.3362C>T, XM_011510679.1:c.3362C>G, XM_011510679.1:c.3362C>T, XM_011510685.3:c.3335C>G, XM_011510685.3:c.3335C>T, XM_011510685.2:c.3335C>G, XM_011510685.2:c.3335C>T, XM_011510685.1:c.3335C>G, XM_011510685.1:c.3335C>T, XM_011510686.3:c.3284C>G, XM_011510686.3:c.3284C>T, XM_011510686.2:c.3284C>G, XM_011510686.2:c.3284C>T, XM_011510686.1:c.3284C>G, XM_011510686.1:c.3284C>T, XM_011510680.2:c.3791C>G, XM_011510680.2:c.3791C>T, XM_011510680.1:c.3791C>G, XM_011510680.1:c.3791C>T, XM_017003413.2:c.3791C>G, XM_017003413.2:c.3791C>T, XM_017003413.1:c.3791C>G, XM_017003413.1:c.3791C>T, XM_011510681.2:c.3791C>G, XM_011510681.2:c.3791C>T, XM_011510681.1:c.3791C>G, XM_011510681.1:c.3791C>T, XM_011510688.2:c.*49C>G, XM_011510688.2:c.*49C>T, XM_011510688.1:c.*49C>G, XM_011510688.1:c.*49C>T, NM_001378068.1:c.3758C>G, NM_001378068.1:c.3758C>T, XM_047443451.1:c.3251C>G, XM_047443451.1:c.3251C>T, XM_047443455.1:c.2504C>G, XM_047443455.1:c.2504C>T, XM_047443456.1:c.2315C>G, XM_047443456.1:c.2315C>T, XP_011508978.1:p.Thr1264Arg, XP_011508978.1:p.Thr1264Ile, XP_011508975.1:p.Thr1264Arg, XP_011508975.1:p.Thr1264Ile, XP_011508979.1:p.Thr1264Arg, XP_011508979.1:p.Thr1264Ile, XP_011508977.1:p.Thr1229Arg, XP_011508977.1:p.Thr1229Ile, NP_653309.3:p.Thr1253Arg, NP_653309.3:p.Thr1253Ile, XP_011508984.1:p.Thr1264Arg, XP_011508984.1:p.Thr1264Ile, XP_011508981.1:p.Thr1121Arg, XP_011508981.1:p.Thr1121Ile, XP_011508987.1:p.Thr1112Arg, XP_011508987.1:p.Thr1112Ile, XP_011508988.1:p.Thr1095Arg, XP_011508988.1:p.Thr1095Ile, XP_011508982.1:p.Thr1264Arg, XP_011508982.1:p.Thr1264Ile, XP_016858902.1:p.Thr1264Arg, XP_016858902.1:p.Thr1264Ile, XP_011508983.1:p.Thr1264Arg, XP_011508983.1:p.Thr1264Ile, NP_001364997.1:p.Thr1253Arg, NP_001364997.1:p.Thr1253Ile, XP_047299407.1:p.Thr1084Arg, XP_047299407.1:p.Thr1084Ile, XP_047299411.1:p.Thr835Arg, XP_047299411.1:p.Thr835Ile, XP_047299412.1:p.Thr772Arg, XP_047299412.1:p.Thr772Ile

                                      19.

                                      rs1478053438 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        2:189695036 (GRCh38)
                                        2:190559762 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:189695035:C:A,NC_000002.12:189695035:C:T
                                        Gene:
                                        ANKAR (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,stop_gained
                                        HGVS:
                                        NC_000002.12:g.189695036C>A, NC_000002.12:g.189695036C>T, NC_000002.11:g.190559762C>A, NC_000002.11:g.190559762C>T, XM_011510676.3:c.1363C>A, XM_011510676.3:c.1363C>T, XM_011510676.2:c.1363C>A, XM_011510676.2:c.1363C>T, XM_011510676.1:c.1363C>A, XM_011510676.1:c.1363C>T, XM_011510673.3:c.1363C>A, XM_011510673.3:c.1363C>T, XM_011510673.2:c.1363C>A, XM_011510673.2:c.1363C>T, XM_011510673.1:c.1363C>A, XM_011510673.1:c.1363C>T, XM_011510677.3:c.1363C>A, XM_011510677.3:c.1363C>T, XM_011510677.2:c.1363C>A, XM_011510677.2:c.1363C>T, XM_011510677.1:c.1363C>A, XM_011510677.1:c.1363C>T, XM_011510675.3:c.1363C>A, XM_011510675.3:c.1363C>T, XM_011510675.2:c.1363C>A, XM_011510675.2:c.1363C>T, XM_011510675.1:c.1363C>A, XM_011510675.1:c.1363C>T, NM_144708.3:c.1363C>A, NM_144708.3:c.1363C>T, XM_011510682.3:c.1363C>A, XM_011510682.3:c.1363C>T, XM_011510682.2:c.1363C>A, XM_011510682.2:c.1363C>T, XM_011510682.1:c.1363C>A, XM_011510682.1:c.1363C>T, XM_011510679.3:c.1363C>A, XM_011510679.3:c.1363C>T, XM_011510679.2:c.1363C>A, XM_011510679.2:c.1363C>T, XM_011510679.1:c.1363C>A, XM_011510679.1:c.1363C>T, XM_011510685.3:c.907C>A, XM_011510685.3:c.907C>T, XM_011510685.2:c.907C>A, XM_011510685.2:c.907C>T, XM_011510685.1:c.907C>A, XM_011510685.1:c.907C>T, XM_011510686.3:c.1363C>A, XM_011510686.3:c.1363C>T, XM_011510686.2:c.1363C>A, XM_011510686.2:c.1363C>T, XM_011510686.1:c.1363C>A, XM_011510686.1:c.1363C>T, XR_922865.3:n.1559C>A, XR_922865.3:n.1559C>T, XR_922865.2:n.1937C>A, XR_922865.2:n.1937C>T, XR_922865.1:n.1937C>A, XR_922865.1:n.1937C>T, XM_011510680.2:c.1363C>A, XM_011510680.2:c.1363C>T, XM_011510680.1:c.1363C>A, XM_011510680.1:c.1363C>T, XM_017003413.2:c.1363C>A, XM_017003413.2:c.1363C>T, XM_017003413.1:c.1363C>A, XM_017003413.1:c.1363C>T, XM_011510681.2:c.1363C>A, XM_011510681.2:c.1363C>T, XM_011510681.1:c.1363C>A, XM_011510681.1:c.1363C>T, XM_011510688.2:c.1363C>A, XM_011510688.2:c.1363C>T, XM_011510688.1:c.1363C>A, XM_011510688.1:c.1363C>T, XR_001738640.2:n.1559C>A, XR_001738640.2:n.1559C>T, XR_001738640.1:n.1937C>A, XR_001738640.1:n.1937C>T, XM_017003417.2:c.1363C>A, XM_017003417.2:c.1363C>T, XM_017003417.1:c.1363C>A, XM_017003417.1:c.1363C>T, XM_024452719.2:c.1363C>A, XM_024452719.2:c.1363C>T, XM_024452719.1:c.1363C>A, XM_024452719.1:c.1363C>T, NM_001378068.1:c.1363C>A, NM_001378068.1:c.1363C>T, XM_047443451.1:c.1363C>A, XM_047443451.1:c.1363C>T, XM_047443452.1:c.1363C>A, XM_047443452.1:c.1363C>T, XM_047443453.1:c.1363C>A, XM_047443453.1:c.1363C>T, XM_047443454.1:c.1363C>A, XM_047443454.1:c.1363C>T, XM_047443455.1:c.76C>A, XM_047443455.1:c.76C>T, XM_047443456.1:c.-114C>A, XM_047443456.1:c.-114C>T, XP_011508978.1:p.Gln455Lys, XP_011508978.1:p.Gln455Ter, XP_011508975.1:p.Gln455Lys, XP_011508975.1:p.Gln455Ter, XP_011508979.1:p.Gln455Lys, XP_011508979.1:p.Gln455Ter, XP_011508977.1:p.Gln455Lys, XP_011508977.1:p.Gln455Ter, NP_653309.3:p.Gln455Lys, NP_653309.3:p.Gln455Ter, XP_011508984.1:p.Gln455Lys, XP_011508984.1:p.Gln455Ter, XP_011508981.1:p.Gln455Lys, XP_011508981.1:p.Gln455Ter, XP_011508987.1:p.Gln303Lys, XP_011508987.1:p.Gln303Ter, XP_011508988.1:p.Gln455Lys, XP_011508988.1:p.Gln455Ter, XP_011508982.1:p.Gln455Lys, XP_011508982.1:p.Gln455Ter, XP_016858902.1:p.Gln455Lys, XP_016858902.1:p.Gln455Ter, XP_011508983.1:p.Gln455Lys, XP_011508983.1:p.Gln455Ter, XP_011508990.1:p.Gln455Lys, XP_011508990.1:p.Gln455Ter, XP_016858906.1:p.Gln455Lys, XP_016858906.1:p.Gln455Ter, XP_024308487.1:p.Gln455Lys, XP_024308487.1:p.Gln455Ter, NP_001364997.1:p.Gln455Lys, NP_001364997.1:p.Gln455Ter, XP_047299407.1:p.Gln455Lys, XP_047299407.1:p.Gln455Ter, XP_047299408.1:p.Gln455Lys, XP_047299408.1:p.Gln455Ter, XP_047299409.1:p.Gln455Lys, XP_047299409.1:p.Gln455Ter, XP_047299410.1:p.Gln455Lys, XP_047299410.1:p.Gln455Ter, XP_047299411.1:p.Gln26Lys, XP_047299411.1:p.Gln26Ter

                                        20.

                                        rs1477093659 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          2:189728345 (GRCh38)
                                          2:190593071 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:189728344:T:
                                          Gene:
                                          ANKAR (Varview)
                                          Functional Consequence:
                                          frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.189728345del, NC_000002.11:g.190593071del, XM_011510676.3:c.2989del, XM_011510676.2:c.2989del, XM_011510676.1:c.2989del, XM_011510673.3:c.2989del, XM_011510673.2:c.2989del, XM_011510673.1:c.2989del, XM_011510677.3:c.2989del, XM_011510677.2:c.2989del, XM_011510677.1:c.2989del, XM_011510675.3:c.2884del, XM_011510675.2:c.2884del, XM_011510675.1:c.2884del, NM_144708.3:c.2956del, XM_011510682.3:c.2989del, XM_011510682.2:c.2989del, XM_011510682.1:c.2989del, XM_011510685.3:c.2533del, XM_011510685.2:c.2533del, XM_011510685.1:c.2533del, XM_011510686.3:c.2989del, XM_011510686.2:c.2989del, XM_011510686.1:c.2989del, XR_922865.3:n.3185del, XR_922865.2:n.3563del, XR_922865.1:n.3563del, XM_011510680.2:c.2989del, XM_011510680.1:c.2989del, XM_017003413.2:c.2989del, XM_017003413.1:c.2989del, XM_011510681.2:c.2989del, XM_011510681.1:c.2989del, XM_011510688.2:c.2989del, XM_011510688.1:c.2989del, XR_001738640.2:n.3185del, XR_001738640.1:n.3563del, NM_001378068.1:c.2956del, XM_047443451.1:c.2956del, XM_047443452.1:c.2989del, XM_047443453.1:c.2956del, XM_047443454.1:c.2989del, XM_047443455.1:c.1702del, XM_047443456.1:c.1513del, XP_011508978.1:p.Tyr997fs, XP_011508975.1:p.Tyr997fs, XP_011508979.1:p.Tyr997fs, XP_011508977.1:p.Tyr962fs, NP_653309.3:p.Tyr986fs, XP_011508984.1:p.Tyr997fs, XP_011508987.1:p.Tyr845fs, XP_011508988.1:p.Tyr997fs, XP_011508982.1:p.Tyr997fs, XP_016858902.1:p.Tyr997fs, XP_011508983.1:p.Tyr997fs, XP_011508990.1:p.Tyr997fs, NP_001364997.1:p.Tyr986fs, XP_047299407.1:p.Tyr986fs, XP_047299408.1:p.Tyr997fs, XP_047299409.1:p.Tyr986fs, XP_047299410.1:p.Tyr997fs, XP_047299411.1:p.Tyr568fs, XP_047299412.1:p.Tyr505fs

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