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Items: 1 to 20 of 188

1.

rs1490568978 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:41133719 (GRCh38)
    9:69206948 (GRCh37)
    Canonical SPDI:
    NC_000009.12:41133718:G:A
    Gene:
    CBWD6 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.41133719G>A, NC_000009.11:g.69206948G>A, XM_017015029.3:c.441C>T, XM_017015029.2:c.441C>T, XM_017015029.1:c.441C>T, XM_017015028.2:c.456C>T, XM_017015028.1:c.456C>T, NM_001085457.2:c.840C>T, NM_001085457.1:c.840C>T, XM_017015019.2:c.825C>T, XM_017015019.1:c.825C>T, XM_017015035.2:c.783C>T, XM_017015035.1:c.783C>T, XM_017015021.2:c.768C>T, XM_017015021.1:c.768C>T, XM_024447653.2:c.753C>T, XM_024447653.1:c.753C>T, XM_017015022.2:c.738C>T, XM_017015022.1:c.738C>T, XM_017015023.2:c.723C>T, XM_017015023.1:c.723C>T, XM_017015036.2:c.696C>T, XM_017015036.1:c.696C>T, XM_017015026.2:c.825C>T, XM_017015026.1:c.825C>T, XM_017015025.2:c.681C>T, XM_017015025.1:c.681C>T, XM_047423722.1:c.456C>T, NR_170339.1:n.875C>T, NM_001386876.1:c.780C>T, NM_001386877.1:c.693C>T, XM_047423721.1:c.780C>T, XM_047423720.1:c.636C>T, XM_047423723.1:c.297C>T, XM_017015031.1:c.381C>T, XM_024447652.1:c.336C>T, XM_017015033.1:c.294C>T, XM_017015034.1:c.42C>T, NM_020667.1:c.-34C>T

    2.

    rs1489044081 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:41166794 (GRCh38)
      9:69240023 (GRCh37)
      Canonical SPDI:
      NC_000009.12:41166793:C:T
      Gene:
      CBWD6 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000009.12:g.41166794C>T, NC_000009.11:g.69240023C>T, XM_017015029.3:c.121G>A, XM_017015029.2:c.121G>A, XM_017015029.1:c.121G>A, XM_017015028.2:c.136G>A, XM_017015028.1:c.136G>A, NM_001085457.2:c.565G>A, NM_001085457.1:c.565G>A, XM_017015019.2:c.505G>A, XM_017015019.1:c.505G>A, XM_017015035.2:c.565G>A, XM_017015035.1:c.565G>A, XM_017015021.2:c.505G>A, XM_017015021.1:c.505G>A, XM_024447653.2:c.565G>A, XM_024447653.1:c.565G>A, XM_017015022.2:c.505G>A, XM_017015022.1:c.505G>A, XM_017015023.2:c.505G>A, XM_017015023.1:c.505G>A, XM_017015036.2:c.565G>A, XM_017015036.1:c.565G>A, XM_017015026.2:c.505G>A, XM_017015026.1:c.505G>A, XM_017015025.2:c.505G>A, XM_017015025.1:c.505G>A, XM_017015027.2:c.505G>A, XM_017015027.1:c.505G>A, XR_001746361.2:n.564G>A, XR_001746361.1:n.671G>A, XM_017015030.2:c.505G>A, XM_017015030.1:c.505G>A, XR_001746359.2:n.564G>A, XR_001746359.1:n.671G>A, XR_001746362.2:n.564G>A, XR_001746362.1:n.671G>A, XM_047423722.1:c.136G>A, NR_170339.1:n.564G>A, NM_001386876.1:c.505G>A, NM_001386877.1:c.505G>A, XM_047423721.1:c.505G>A, XM_047423720.1:c.505G>A, XM_047423723.1:c.121G>A, XM_017015031.1:c.61G>A, XM_024447652.1:c.61G>A, XM_017015033.1:c.61G>A, XM_017015034.1:c.-279G>A, XR_007061337.1:n.564G>A, XP_016870518.1:p.Glu41Lys, XP_016870517.1:p.Glu46Lys, NP_001078926.1:p.Glu189Lys, XP_016870508.1:p.Glu169Lys, XP_016870524.1:p.Glu189Lys, XP_016870510.1:p.Glu169Lys, XP_024303421.1:p.Glu189Lys, XP_016870511.1:p.Glu169Lys, XP_016870512.1:p.Glu169Lys, XP_016870525.1:p.Glu189Lys, XP_016870515.1:p.Glu169Lys, XP_016870514.1:p.Glu169Lys, XP_016870516.1:p.Glu169Lys, XP_016870519.1:p.Glu169Lys, XP_047279678.1:p.Glu46Lys, NP_001373805.1:p.Glu169Lys, NP_001373806.1:p.Glu169Lys, XP_047279677.1:p.Glu169Lys, XP_047279676.1:p.Glu169Lys, XP_047279679.1:p.Glu41Lys, XP_016870520.1:p.Glu21Lys, XP_024303420.1:p.Glu21Lys, XP_016870522.1:p.Glu21Lys

      3.

      rs1487736449 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        9:41132279 (GRCh38)
        9:69205508 (GRCh37)
        Canonical SPDI:
        NC_000009.12:41132278:G:A,NC_000009.12:41132278:G:C
        Gene:
        CBWD6 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000009.12:g.41132279G>A, NC_000009.12:g.41132279G>C, NC_000009.11:g.69205508G>A, NC_000009.11:g.69205508G>C, XM_017015029.3:c.631C>T, XM_017015029.3:c.631C>G, XM_017015029.2:c.631C>T, XM_017015029.2:c.631C>G, XM_017015029.1:c.631C>T, XM_017015029.1:c.631C>G, XM_017015028.2:c.646C>T, XM_017015028.2:c.646C>G, XM_017015028.1:c.646C>T, XM_017015028.1:c.646C>G, NM_001085457.2:c.1030C>T, NM_001085457.2:c.1030C>G, NM_001085457.1:c.1030C>T, NM_001085457.1:c.1030C>G, XM_017015019.2:c.1015C>T, XM_017015019.2:c.1015C>G, XM_017015019.1:c.1015C>T, XM_017015019.1:c.1015C>G, XM_017015035.2:c.973C>T, XM_017015035.2:c.973C>G, XM_017015035.1:c.973C>T, XM_017015035.1:c.973C>G, XM_017015021.2:c.958C>T, XM_017015021.2:c.958C>G, XM_017015021.1:c.958C>T, XM_017015021.1:c.958C>G, XM_024447653.2:c.943C>T, XM_024447653.2:c.943C>G, XM_024447653.1:c.943C>T, XM_024447653.1:c.943C>G, XM_017015022.2:c.928C>T, XM_017015022.2:c.928C>G, XM_017015022.1:c.928C>T, XM_017015022.1:c.928C>G, XM_017015023.2:c.913C>T, XM_017015023.2:c.913C>G, XM_017015023.1:c.913C>T, XM_017015023.1:c.913C>G, XM_017015036.2:c.886C>T, XM_017015036.2:c.886C>G, XM_017015036.1:c.886C>T, XM_017015036.1:c.886C>G, XM_017015025.2:c.871C>T, XM_017015025.2:c.871C>G, XM_017015025.1:c.871C>T, XM_017015025.1:c.871C>G, XM_047423722.1:c.646C>T, XM_047423722.1:c.646C>G, NR_170339.1:n.1065C>T, NR_170339.1:n.1065C>G, NM_001386876.1:c.970C>T, NM_001386876.1:c.970C>G, NM_001386877.1:c.883C>T, NM_001386877.1:c.883C>G, XM_047423720.1:c.826C>T, XM_047423720.1:c.826C>G, XM_047423723.1:c.487C>T, XM_047423723.1:c.487C>G, XM_017015031.1:c.571C>T, XM_017015031.1:c.571C>G, XM_024447652.1:c.526C>T, XM_024447652.1:c.526C>G, XM_017015033.1:c.484C>T, XM_017015033.1:c.484C>G, XM_017015034.1:c.232C>T, XM_017015034.1:c.232C>G, NM_020667.1:c.157C>T, NM_020667.1:c.157C>G, XP_016870518.1:p.Pro211Ser, XP_016870518.1:p.Pro211Ala, XP_016870517.1:p.Pro216Ser, XP_016870517.1:p.Pro216Ala, NP_001078926.1:p.Pro344Ser, NP_001078926.1:p.Pro344Ala, XP_016870508.1:p.Pro339Ser, XP_016870508.1:p.Pro339Ala, XP_016870524.1:p.Pro325Ser, XP_016870524.1:p.Pro325Ala, XP_016870510.1:p.Pro320Ser, XP_016870510.1:p.Pro320Ala, XP_024303421.1:p.Pro315Ser, XP_024303421.1:p.Pro315Ala, XP_016870511.1:p.Pro310Ser, XP_016870511.1:p.Pro310Ala, XP_016870512.1:p.Pro305Ser, XP_016870512.1:p.Pro305Ala, XP_016870525.1:p.Pro296Ser, XP_016870525.1:p.Pro296Ala, XP_016870514.1:p.Pro291Ser, XP_016870514.1:p.Pro291Ala, XP_047279678.1:p.Pro216Ser, XP_047279678.1:p.Pro216Ala, NP_001373805.1:p.Pro324Ser, NP_001373805.1:p.Pro324Ala, NP_001373806.1:p.Pro295Ser, NP_001373806.1:p.Pro295Ala, XP_047279676.1:p.Pro276Ser, XP_047279676.1:p.Pro276Ala, XP_047279679.1:p.Pro163Ser, XP_047279679.1:p.Pro163Ala, XP_016870520.1:p.Pro191Ser, XP_016870520.1:p.Pro191Ala, XP_024303420.1:p.Pro176Ser, XP_024303420.1:p.Pro176Ala, XP_016870522.1:p.Pro162Ser, XP_016870522.1:p.Pro162Ala, XP_016870523.1:p.Pro78Ser, XP_016870523.1:p.Pro78Ala

        4.

        rs1483385680 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          9:41142266 (GRCh38)
          9:69215495 (GRCh37)
          Canonical SPDI:
          NC_000009.12:41142265:A:G,NC_000009.12:41142265:A:T
          Gene:
          CBWD6 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000009.12:g.41142266A>G, NC_000009.12:g.41142266A>T, NC_000009.11:g.69215495A>G, NC_000009.11:g.69215495A>T, XM_017015029.3:c.397T>C, XM_017015029.3:c.397T>A, XM_017015029.2:c.397T>C, XM_017015029.2:c.397T>A, XM_017015029.1:c.397T>C, XM_017015029.1:c.397T>A, XM_017015028.2:c.412T>C, XM_017015028.2:c.412T>A, XM_017015028.1:c.412T>C, XM_017015028.1:c.412T>A, XM_017015019.2:c.781T>C, XM_017015019.2:c.781T>A, XM_017015019.1:c.781T>C, XM_017015019.1:c.781T>A, XM_017015021.2:c.724T>C, XM_017015021.2:c.724T>A, XM_017015021.1:c.724T>C, XM_017015021.1:c.724T>A, XM_017015022.2:c.694T>C, XM_017015022.2:c.694T>A, XM_017015022.1:c.694T>C, XM_017015022.1:c.694T>A, XM_017015026.2:c.781T>C, XM_017015026.2:c.781T>A, XM_017015026.1:c.781T>C, XM_017015026.1:c.781T>A, XM_017015025.2:c.637T>C, XM_017015025.2:c.637T>A, XM_017015025.1:c.637T>C, XM_017015025.1:c.637T>A, XM_047423722.1:c.412T>C, XM_047423722.1:c.412T>A, XM_047423723.1:c.253T>C, XM_047423723.1:c.253T>A, XM_017015031.1:c.337T>C, XM_017015031.1:c.337T>A, XM_017015033.1:c.250T>C, XM_017015033.1:c.250T>A, XM_017015034.1:c.-3T>C, XM_017015034.1:c.-3T>A, XP_016870518.1:p.Trp133Arg, XP_016870518.1:p.Trp133Arg, XP_016870517.1:p.Trp138Arg, XP_016870517.1:p.Trp138Arg, XP_016870508.1:p.Trp261Arg, XP_016870508.1:p.Trp261Arg, XP_016870510.1:p.Trp242Arg, XP_016870510.1:p.Trp242Arg, XP_016870511.1:p.Trp232Arg, XP_016870511.1:p.Trp232Arg, XP_016870515.1:p.Trp261Arg, XP_016870515.1:p.Trp261Arg, XP_016870514.1:p.Trp213Arg, XP_016870514.1:p.Trp213Arg, XP_047279678.1:p.Trp138Arg, XP_047279678.1:p.Trp138Arg, XP_047279679.1:p.Trp85Arg, XP_047279679.1:p.Trp85Arg, XP_016870520.1:p.Trp113Arg, XP_016870520.1:p.Trp113Arg, XP_016870522.1:p.Trp84Arg, XP_016870522.1:p.Trp84Arg

          5.

          rs1482253610 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:41133553 (GRCh38)
            9:69206782 (GRCh37)
            Canonical SPDI:
            NC_000009.12:41133552:C:T
            Gene:
            CBWD6 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.00018/6 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.41133553C>T, NC_000009.11:g.69206782C>T, XM_017015029.3:c.504G>A, XM_017015029.2:c.504G>A, XM_017015029.1:c.504G>A, XM_017015028.2:c.519G>A, XM_017015028.1:c.519G>A, NM_001085457.2:c.903G>A, NM_001085457.1:c.903G>A, XM_017015019.2:c.888G>A, XM_017015019.1:c.888G>A, XM_017015035.2:c.846G>A, XM_017015035.1:c.846G>A, XM_017015021.2:c.831G>A, XM_017015021.1:c.831G>A, XM_024447653.2:c.816G>A, XM_024447653.1:c.816G>A, XM_017015022.2:c.801G>A, XM_017015022.1:c.801G>A, XM_017015023.2:c.786G>A, XM_017015023.1:c.786G>A, XM_017015036.2:c.759G>A, XM_017015036.1:c.759G>A, XM_017015026.2:c.888G>A, XM_017015026.1:c.888G>A, XM_017015025.2:c.744G>A, XM_017015025.1:c.744G>A, XM_047423722.1:c.519G>A, NR_170339.1:n.938G>A, NM_001386876.1:c.843G>A, NM_001386877.1:c.756G>A, XM_047423721.1:c.843G>A, XM_047423720.1:c.699G>A, XM_047423723.1:c.360G>A, XM_017015031.1:c.444G>A, XM_024447652.1:c.399G>A, XM_017015033.1:c.357G>A, XM_017015034.1:c.105G>A, NM_020667.1:c.30G>A

            6.

            rs1477904868 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              9:41131368 (GRCh38)
              9:69204598 (GRCh37)
              Canonical SPDI:
              NC_000009.12:41131368::C
              Gene:
              CBWD6 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.00346/41 (ALFA)
              HGVS:
              NC_000009.12:g.41131368_41131369insC, NC_000009.11:g.69204597_69204598insC, XM_017015029.3:c.*365_*366insG, XM_017015029.2:c.*365_*366insG, XM_017015029.1:c.*365_*366insG, XM_017015028.2:c.*365_*366insG, XM_017015028.1:c.*365_*366insG, NM_001085457.2:c.*365_*366insG, NM_001085457.1:c.*365_*366insG, XM_017015019.2:c.*365_*366insG, XM_017015019.1:c.*365_*366insG, XM_017015035.2:c.*365_*366insG, XM_017015035.1:c.*365_*366insG, XM_017015021.2:c.*365_*366insG, XM_017015021.1:c.*365_*366insG, XM_024447653.2:c.*365_*366insG, XM_024447653.1:c.*365_*366insG, XM_017015022.2:c.*365_*366insG, XM_017015022.1:c.*365_*366insG, XM_017015023.2:c.*365_*366insG, XM_017015023.1:c.*365_*366insG, XM_017015036.2:c.*365_*366insG, XM_017015036.1:c.*365_*366insG, XM_017015026.2:c.*460_*461insG, XM_017015026.1:c.*460_*461insG, XM_017015025.2:c.*365_*366insG, XM_017015025.1:c.*365_*366insG, XM_047423722.1:c.*365_*366insG, NR_170339.1:n.1588_1589insG, NM_001386876.1:c.*365_*366insG, NM_001386877.1:c.*365_*366insG, XM_047423721.1:c.*460_*461insG, XM_047423720.1:c.*365_*366insG, XM_047423723.1:c.*365_*366insG, XM_017015031.1:c.*365_*366insG, XM_024447652.1:c.*365_*366insG, XM_017015033.1:c.*365_*366insG, XM_017015034.1:c.*365_*366insG

              7.

              rs1473490575 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:41131524 (GRCh38)
                9:69204753 (GRCh37)
                Canonical SPDI:
                NC_000009.12:41131523:A:G
                Gene:
                CBWD6 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                NC_000009.12:g.41131524A>G, NC_000009.11:g.69204753A>G, XM_017015029.3:c.*210T>C, XM_017015029.2:c.*210T>C, XM_017015029.1:c.*210T>C, XM_017015028.2:c.*210T>C, XM_017015028.1:c.*210T>C, NM_001085457.2:c.*210T>C, NM_001085457.1:c.*210T>C, XM_017015019.2:c.*210T>C, XM_017015019.1:c.*210T>C, XM_017015035.2:c.*210T>C, XM_017015035.1:c.*210T>C, XM_017015021.2:c.*210T>C, XM_017015021.1:c.*210T>C, XM_024447653.2:c.*210T>C, XM_024447653.1:c.*210T>C, XM_017015022.2:c.*210T>C, XM_017015022.1:c.*210T>C, XM_017015023.2:c.*210T>C, XM_017015023.1:c.*210T>C, XM_017015036.2:c.*210T>C, XM_017015036.1:c.*210T>C, XM_017015026.2:c.*305T>C, XM_017015026.1:c.*305T>C, XM_017015025.2:c.*210T>C, XM_017015025.1:c.*210T>C, XM_047423722.1:c.*210T>C, NR_170339.1:n.1433T>C, NM_001386876.1:c.*210T>C, NM_001386877.1:c.*210T>C, XM_047423721.1:c.*305T>C, XM_047423720.1:c.*210T>C, XM_047423723.1:c.*210T>C, XM_017015031.1:c.*210T>C, XM_024447652.1:c.*210T>C, XM_017015033.1:c.*210T>C, XM_017015034.1:c.*210T>C

                8.

                rs1472492173 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:41131772 (GRCh38)
                  9:69205001 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:41131771:A:G
                  Gene:
                  CBWD6 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.00002/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.41131772A>G, NC_000009.11:g.69205001A>G, XM_017015029.3:c.751T>C, XM_017015029.2:c.751T>C, XM_017015029.1:c.751T>C, XM_017015028.2:c.766T>C, XM_017015028.1:c.766T>C, NM_001085457.2:c.1150T>C, NM_001085457.1:c.1150T>C, XM_017015019.2:c.1135T>C, XM_017015019.1:c.1135T>C, XM_017015035.2:c.1093T>C, XM_017015035.1:c.1093T>C, XM_017015021.2:c.1078T>C, XM_017015021.1:c.1078T>C, XM_024447653.2:c.1063T>C, XM_024447653.1:c.1063T>C, XM_017015022.2:c.1048T>C, XM_017015022.1:c.1048T>C, XM_017015023.2:c.1033T>C, XM_017015023.1:c.1033T>C, XM_017015036.2:c.1006T>C, XM_017015036.1:c.1006T>C, XM_017015026.2:c.*57T>C, XM_017015026.1:c.*57T>C, XM_017015025.2:c.991T>C, XM_017015025.1:c.991T>C, XM_047423722.1:c.766T>C, NR_170339.1:n.1185T>C, NM_001386876.1:c.1090T>C, NM_001386877.1:c.1003T>C, XM_047423721.1:c.*57T>C, XM_047423720.1:c.946T>C, XM_047423723.1:c.607T>C, XM_017015031.1:c.691T>C, XM_024447652.1:c.646T>C, XM_017015033.1:c.604T>C, XM_017015034.1:c.352T>C, NM_020667.1:c.277T>C, XP_016870518.1:p.Trp251Arg, XP_016870517.1:p.Trp256Arg, NP_001078926.1:p.Trp384Arg, XP_016870508.1:p.Trp379Arg, XP_016870524.1:p.Trp365Arg, XP_016870510.1:p.Trp360Arg, XP_024303421.1:p.Trp355Arg, XP_016870511.1:p.Trp350Arg, XP_016870512.1:p.Trp345Arg, XP_016870525.1:p.Trp336Arg, XP_016870514.1:p.Trp331Arg, XP_047279678.1:p.Trp256Arg, NP_001373805.1:p.Trp364Arg, NP_001373806.1:p.Trp335Arg, XP_047279676.1:p.Trp316Arg, XP_047279679.1:p.Trp203Arg, XP_016870520.1:p.Trp231Arg, XP_024303420.1:p.Trp216Arg, XP_016870522.1:p.Trp202Arg, XP_016870523.1:p.Trp118Arg

                  9.

                  rs1468820056 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:41133527 (GRCh38)
                    9:69206756 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:41133526:C:T
                    Gene:
                    CBWD6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000009.12:g.41133527C>T, NC_000009.11:g.69206756C>T, XM_017015029.3:c.530G>A, XM_017015029.2:c.530G>A, XM_017015029.1:c.530G>A, XM_017015028.2:c.545G>A, XM_017015028.1:c.545G>A, NM_001085457.2:c.929G>A, NM_001085457.1:c.929G>A, XM_017015019.2:c.914G>A, XM_017015019.1:c.914G>A, XM_017015035.2:c.872G>A, XM_017015035.1:c.872G>A, XM_017015021.2:c.857G>A, XM_017015021.1:c.857G>A, XM_024447653.2:c.842G>A, XM_024447653.1:c.842G>A, XM_017015022.2:c.827G>A, XM_017015022.1:c.827G>A, XM_017015023.2:c.812G>A, XM_017015023.1:c.812G>A, XM_017015036.2:c.785G>A, XM_017015036.1:c.785G>A, XM_017015026.2:c.914G>A, XM_017015026.1:c.914G>A, XM_017015025.2:c.770G>A, XM_017015025.1:c.770G>A, XM_047423722.1:c.545G>A, NR_170339.1:n.964G>A, NM_001386876.1:c.869G>A, NM_001386877.1:c.782G>A, XM_047423721.1:c.869G>A, XM_047423720.1:c.725G>A, XM_047423723.1:c.386G>A, XM_017015031.1:c.470G>A, XM_024447652.1:c.425G>A, XM_017015033.1:c.383G>A, XM_017015034.1:c.131G>A, NM_020667.1:c.56G>A, XP_016870518.1:p.Cys177Tyr, XP_016870517.1:p.Cys182Tyr, NP_001078926.1:p.Cys310Tyr, XP_016870508.1:p.Cys305Tyr, XP_016870524.1:p.Cys291Tyr, XP_016870510.1:p.Cys286Tyr, XP_024303421.1:p.Cys281Tyr, XP_016870511.1:p.Cys276Tyr, XP_016870512.1:p.Cys271Tyr, XP_016870525.1:p.Cys262Tyr, XP_016870515.1:p.Cys305Tyr, XP_016870514.1:p.Cys257Tyr, XP_047279678.1:p.Cys182Tyr, NP_001373805.1:p.Cys290Tyr, NP_001373806.1:p.Cys261Tyr, XP_047279677.1:p.Cys290Tyr, XP_047279676.1:p.Cys242Tyr, XP_047279679.1:p.Cys129Tyr, XP_016870520.1:p.Cys157Tyr, XP_024303420.1:p.Cys142Tyr, XP_016870522.1:p.Cys128Tyr, XP_016870523.1:p.Cys44Tyr

                    10.

                    rs1466033536 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:41131474 (GRCh38)
                      9:69204703 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:41131473:G:A
                      Gene:
                      CBWD6 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.00141/23 (TOMMO)
                      HGVS:
                      NC_000009.12:g.41131474G>A, NC_000009.11:g.69204703G>A, XM_017015029.3:c.*260C>T, XM_017015029.2:c.*260C>T, XM_017015029.1:c.*260C>T, XM_017015028.2:c.*260C>T, XM_017015028.1:c.*260C>T, NM_001085457.2:c.*260C>T, NM_001085457.1:c.*260C>T, XM_017015019.2:c.*260C>T, XM_017015019.1:c.*260C>T, XM_017015035.2:c.*260C>T, XM_017015035.1:c.*260C>T, XM_017015021.2:c.*260C>T, XM_017015021.1:c.*260C>T, XM_024447653.2:c.*260C>T, XM_024447653.1:c.*260C>T, XM_017015022.2:c.*260C>T, XM_017015022.1:c.*260C>T, XM_017015023.2:c.*260C>T, XM_017015023.1:c.*260C>T, XM_017015036.2:c.*260C>T, XM_017015036.1:c.*260C>T, XM_017015026.2:c.*355C>T, XM_017015026.1:c.*355C>T, XM_017015025.2:c.*260C>T, XM_017015025.1:c.*260C>T, XM_047423722.1:c.*260C>T, NR_170339.1:n.1483C>T, NM_001386876.1:c.*260C>T, NM_001386877.1:c.*260C>T, XM_047423721.1:c.*355C>T, XM_047423720.1:c.*260C>T, XM_047423723.1:c.*260C>T, XM_017015031.1:c.*260C>T, XM_024447652.1:c.*260C>T, XM_017015033.1:c.*260C>T, XM_017015034.1:c.*260C>T

                      11.

                      rs1462044106 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        9:41156438 (GRCh38)
                        9:69229667 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:41156437:C:G
                        Gene:
                        CBWD6 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000019/5 (TOPMED)
                        G=0.00003/1 (GnomAD)
                        HGVS:
                        NC_000009.12:g.41156438C>G, NC_000009.11:g.69229667C>G, XM_017015029.3:c.265G>C, XM_017015029.2:c.265G>C, XM_017015029.1:c.265G>C, XM_017015028.2:c.280G>C, XM_017015028.1:c.280G>C, NM_001085457.2:c.709G>C, NM_001085457.1:c.709G>C, XM_017015019.2:c.649G>C, XM_017015019.1:c.649G>C, XM_024447653.2:c.622G>C, XM_024447653.1:c.622G>C, XM_017015022.2:c.562G>C, XM_017015022.1:c.562G>C, XM_017015026.2:c.649G>C, XM_017015026.1:c.649G>C, XM_017015027.2:c.649G>C, XM_017015027.1:c.649G>C, XR_001746361.2:n.915G>C, XR_001746361.1:n.1022G>C, XR_001746359.2:n.792G>C, XR_001746359.1:n.899G>C, XR_001746362.2:n.705G>C, XR_001746362.1:n.812G>C, XM_047423722.1:c.280G>C, NR_170339.1:n.744G>C, NM_001386876.1:c.649G>C, NM_001386877.1:c.562G>C, XM_047423721.1:c.649G>C, XM_017015031.1:c.205G>C, XM_024447652.1:c.205G>C, XM_017015033.1:c.118G>C, XM_017015034.1:c.-135G>C, XR_007061337.1:n.831G>C, NM_020667.1:c.-165G>C, XP_016870518.1:p.Val89Leu, XP_016870517.1:p.Val94Leu, NP_001078926.1:p.Val237Leu, XP_016870508.1:p.Val217Leu, XP_024303421.1:p.Val208Leu, XP_016870511.1:p.Val188Leu, XP_016870515.1:p.Val217Leu, XP_016870516.1:p.Val217Leu, XP_047279678.1:p.Val94Leu, NP_001373805.1:p.Val217Leu, NP_001373806.1:p.Val188Leu, XP_047279677.1:p.Val217Leu, XP_016870520.1:p.Val69Leu, XP_024303420.1:p.Val69Leu, XP_016870522.1:p.Val40Leu

                        12.

                        rs1460248402 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          9:41131358 (GRCh38)
                          9:69204587 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:41131357:G:A,NC_000009.12:41131357:G:C
                          Gene:
                          CBWD6 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000009.12:g.41131358G>A, NC_000009.12:g.41131358G>C, NC_000009.11:g.69204587G>A, NC_000009.11:g.69204587G>C, XM_017015029.3:c.*376C>T, XM_017015029.3:c.*376C>G, XM_017015029.2:c.*376C>T, XM_017015029.2:c.*376C>G, XM_017015029.1:c.*376C>T, XM_017015029.1:c.*376C>G, XM_017015028.2:c.*376C>T, XM_017015028.2:c.*376C>G, XM_017015028.1:c.*376C>T, XM_017015028.1:c.*376C>G, NM_001085457.2:c.*376C>T, NM_001085457.2:c.*376C>G, NM_001085457.1:c.*376C>T, NM_001085457.1:c.*376C>G, XM_017015019.2:c.*376C>T, XM_017015019.2:c.*376C>G, XM_017015019.1:c.*376C>T, XM_017015019.1:c.*376C>G, XM_017015035.2:c.*376C>T, XM_017015035.2:c.*376C>G, XM_017015035.1:c.*376C>T, XM_017015035.1:c.*376C>G, XM_017015021.2:c.*376C>T, XM_017015021.2:c.*376C>G, XM_017015021.1:c.*376C>T, XM_017015021.1:c.*376C>G, XM_024447653.2:c.*376C>T, XM_024447653.2:c.*376C>G, XM_024447653.1:c.*376C>T, XM_024447653.1:c.*376C>G, XM_017015022.2:c.*376C>T, XM_017015022.2:c.*376C>G, XM_017015022.1:c.*376C>T, XM_017015022.1:c.*376C>G, XM_017015023.2:c.*376C>T, XM_017015023.2:c.*376C>G, XM_017015023.1:c.*376C>T, XM_017015023.1:c.*376C>G, XM_017015036.2:c.*376C>T, XM_017015036.2:c.*376C>G, XM_017015036.1:c.*376C>T, XM_017015036.1:c.*376C>G, XM_017015026.2:c.*471C>T, XM_017015026.2:c.*471C>G, XM_017015026.1:c.*471C>T, XM_017015026.1:c.*471C>G, XM_017015025.2:c.*376C>T, XM_017015025.2:c.*376C>G, XM_017015025.1:c.*376C>T, XM_017015025.1:c.*376C>G, XM_047423722.1:c.*376C>T, XM_047423722.1:c.*376C>G, NR_170339.1:n.1599C>T, NR_170339.1:n.1599C>G, NM_001386876.1:c.*376C>T, NM_001386876.1:c.*376C>G, NM_001386877.1:c.*376C>T, NM_001386877.1:c.*376C>G, XM_047423721.1:c.*471C>T, XM_047423721.1:c.*471C>G, XM_047423720.1:c.*376C>T, XM_047423720.1:c.*376C>G, XM_047423723.1:c.*376C>T, XM_047423723.1:c.*376C>G, XM_017015031.1:c.*376C>T, XM_017015031.1:c.*376C>G, XM_024447652.1:c.*376C>T, XM_024447652.1:c.*376C>G, XM_017015033.1:c.*376C>T, XM_017015033.1:c.*376C>G, XM_017015034.1:c.*376C>T, XM_017015034.1:c.*376C>G

                          13.

                          rs1456261586 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            9:41132311 (GRCh38)
                            9:69205540 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:41132310:C:G,NC_000009.12:41132310:C:T
                            Gene:
                            CBWD6 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000009.12:g.41132311C>G, NC_000009.12:g.41132311C>T, NC_000009.11:g.69205540C>G, NC_000009.11:g.69205540C>T, XM_017015029.3:c.599G>C, XM_017015029.3:c.599G>A, XM_017015029.2:c.599G>C, XM_017015029.2:c.599G>A, XM_017015029.1:c.599G>C, XM_017015029.1:c.599G>A, XM_017015028.2:c.614G>C, XM_017015028.2:c.614G>A, XM_017015028.1:c.614G>C, XM_017015028.1:c.614G>A, NM_001085457.2:c.998G>C, NM_001085457.2:c.998G>A, NM_001085457.1:c.998G>C, NM_001085457.1:c.998G>A, XM_017015019.2:c.983G>C, XM_017015019.2:c.983G>A, XM_017015019.1:c.983G>C, XM_017015019.1:c.983G>A, XM_017015035.2:c.941G>C, XM_017015035.2:c.941G>A, XM_017015035.1:c.941G>C, XM_017015035.1:c.941G>A, XM_017015021.2:c.926G>C, XM_017015021.2:c.926G>A, XM_017015021.1:c.926G>C, XM_017015021.1:c.926G>A, XM_024447653.2:c.911G>C, XM_024447653.2:c.911G>A, XM_024447653.1:c.911G>C, XM_024447653.1:c.911G>A, XM_017015022.2:c.896G>C, XM_017015022.2:c.896G>A, XM_017015022.1:c.896G>C, XM_017015022.1:c.896G>A, XM_017015023.2:c.881G>C, XM_017015023.2:c.881G>A, XM_017015023.1:c.881G>C, XM_017015023.1:c.881G>A, XM_017015036.2:c.854G>C, XM_017015036.2:c.854G>A, XM_017015036.1:c.854G>C, XM_017015036.1:c.854G>A, XM_017015025.2:c.839G>C, XM_017015025.2:c.839G>A, XM_017015025.1:c.839G>C, XM_017015025.1:c.839G>A, XM_047423722.1:c.614G>C, XM_047423722.1:c.614G>A, NR_170339.1:n.1033G>C, NR_170339.1:n.1033G>A, NM_001386876.1:c.938G>C, NM_001386876.1:c.938G>A, NM_001386877.1:c.851G>C, NM_001386877.1:c.851G>A, XM_047423720.1:c.794G>C, XM_047423720.1:c.794G>A, XM_047423723.1:c.455G>C, XM_047423723.1:c.455G>A, XM_017015031.1:c.539G>C, XM_017015031.1:c.539G>A, XM_024447652.1:c.494G>C, XM_024447652.1:c.494G>A, XM_017015033.1:c.452G>C, XM_017015033.1:c.452G>A, XM_017015034.1:c.200G>C, XM_017015034.1:c.200G>A, NM_020667.1:c.125G>C, NM_020667.1:c.125G>A, XP_016870518.1:p.Gly200Ala, XP_016870518.1:p.Gly200Asp, XP_016870517.1:p.Gly205Ala, XP_016870517.1:p.Gly205Asp, NP_001078926.1:p.Gly333Ala, NP_001078926.1:p.Gly333Asp, XP_016870508.1:p.Gly328Ala, XP_016870508.1:p.Gly328Asp, XP_016870524.1:p.Gly314Ala, XP_016870524.1:p.Gly314Asp, XP_016870510.1:p.Gly309Ala, XP_016870510.1:p.Gly309Asp, XP_024303421.1:p.Gly304Ala, XP_024303421.1:p.Gly304Asp, XP_016870511.1:p.Gly299Ala, XP_016870511.1:p.Gly299Asp, XP_016870512.1:p.Gly294Ala, XP_016870512.1:p.Gly294Asp, XP_016870525.1:p.Gly285Ala, XP_016870525.1:p.Gly285Asp, XP_016870514.1:p.Gly280Ala, XP_016870514.1:p.Gly280Asp, XP_047279678.1:p.Gly205Ala, XP_047279678.1:p.Gly205Asp, NP_001373805.1:p.Gly313Ala, NP_001373805.1:p.Gly313Asp, NP_001373806.1:p.Gly284Ala, NP_001373806.1:p.Gly284Asp, XP_047279676.1:p.Gly265Ala, XP_047279676.1:p.Gly265Asp, XP_047279679.1:p.Gly152Ala, XP_047279679.1:p.Gly152Asp, XP_016870520.1:p.Gly180Ala, XP_016870520.1:p.Gly180Asp, XP_024303420.1:p.Gly165Ala, XP_024303420.1:p.Gly165Asp, XP_016870522.1:p.Gly151Ala, XP_016870522.1:p.Gly151Asp, XP_016870523.1:p.Gly67Ala, XP_016870523.1:p.Gly67Asp

                            14.

                            rs1455454879 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:41166805 (GRCh38)
                              9:69240034 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:41166804:C:T
                              Gene:
                              CBWD6 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.00008/1 (ALFA)
                              T=0.00024/2 (GnomAD)
                              T=0.00219/14 (1000Genomes)
                              T=0.01128/12 (Korea1K)
                              T=0.03039/64 (KOREAN)
                              T=0.03542/579 (TOMMO)
                              C=0.5/1 (SGDP_PRJ)
                              HGVS:
                              NC_000009.12:g.41166805C>T, NC_000009.11:g.69240034C>T, XM_017015029.3:c.110G>A, XM_017015029.2:c.110G>A, XM_017015029.1:c.110G>A, XM_017015028.2:c.125G>A, XM_017015028.1:c.125G>A, NM_001085457.2:c.554G>A, NM_001085457.1:c.554G>A, XM_017015019.2:c.494G>A, XM_017015019.1:c.494G>A, XM_017015035.2:c.554G>A, XM_017015035.1:c.554G>A, XM_017015021.2:c.494G>A, XM_017015021.1:c.494G>A, XM_024447653.2:c.554G>A, XM_024447653.1:c.554G>A, XM_017015022.2:c.494G>A, XM_017015022.1:c.494G>A, XM_017015023.2:c.494G>A, XM_017015023.1:c.494G>A, XM_017015036.2:c.554G>A, XM_017015036.1:c.554G>A, XM_017015026.2:c.494G>A, XM_017015026.1:c.494G>A, XM_017015025.2:c.494G>A, XM_017015025.1:c.494G>A, XM_017015027.2:c.494G>A, XM_017015027.1:c.494G>A, XR_001746361.2:n.553G>A, XR_001746361.1:n.660G>A, XM_017015030.2:c.494G>A, XM_017015030.1:c.494G>A, XR_001746359.2:n.553G>A, XR_001746359.1:n.660G>A, XR_001746362.2:n.553G>A, XR_001746362.1:n.660G>A, XM_047423722.1:c.125G>A, NR_170339.1:n.553G>A, NM_001386876.1:c.494G>A, NM_001386877.1:c.494G>A, XM_047423721.1:c.494G>A, XM_047423720.1:c.494G>A, XM_047423723.1:c.110G>A, XM_017015031.1:c.50G>A, XM_024447652.1:c.50G>A, XM_017015033.1:c.50G>A, XM_017015034.1:c.-290G>A, XR_007061337.1:n.553G>A, XP_016870518.1:p.Gly37Asp, XP_016870517.1:p.Gly42Asp, NP_001078926.1:p.Gly185Asp, XP_016870508.1:p.Gly165Asp, XP_016870524.1:p.Gly185Asp, XP_016870510.1:p.Gly165Asp, XP_024303421.1:p.Gly185Asp, XP_016870511.1:p.Gly165Asp, XP_016870512.1:p.Gly165Asp, XP_016870525.1:p.Gly185Asp, XP_016870515.1:p.Gly165Asp, XP_016870514.1:p.Gly165Asp, XP_016870516.1:p.Gly165Asp, XP_016870519.1:p.Gly165Asp, XP_047279678.1:p.Gly42Asp, NP_001373805.1:p.Gly165Asp, NP_001373806.1:p.Gly165Asp, XP_047279677.1:p.Gly165Asp, XP_047279676.1:p.Gly165Asp, XP_047279679.1:p.Gly37Asp, XP_016870520.1:p.Gly17Asp, XP_024303420.1:p.Gly17Asp, XP_016870522.1:p.Gly17Asp

                              15.

                              rs1452646127 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                9:41131325 (GRCh38)
                                9:69204554 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:41131324:T:A
                                Gene:
                                CBWD6 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.00008/1 (ALFA)
                                HGVS:
                                NC_000009.12:g.41131325T>A, NC_000009.11:g.69204554T>A, XM_017015029.3:c.*409A>T, XM_017015029.2:c.*409A>T, XM_017015029.1:c.*409A>T, XM_017015028.2:c.*409A>T, XM_017015028.1:c.*409A>T, NM_001085457.2:c.*409A>T, NM_001085457.1:c.*409A>T, XM_017015019.2:c.*409A>T, XM_017015019.1:c.*409A>T, XM_017015035.2:c.*409A>T, XM_017015035.1:c.*409A>T, XM_017015021.2:c.*409A>T, XM_017015021.1:c.*409A>T, XM_024447653.2:c.*409A>T, XM_024447653.1:c.*409A>T, XM_017015022.2:c.*409A>T, XM_017015022.1:c.*409A>T, XM_017015023.2:c.*409A>T, XM_017015023.1:c.*409A>T, XM_017015036.2:c.*409A>T, XM_017015036.1:c.*409A>T, XM_017015026.2:c.*504A>T, XM_017015026.1:c.*504A>T, XM_017015025.2:c.*409A>T, XM_017015025.1:c.*409A>T, XM_047423722.1:c.*409A>T, NR_170339.1:n.1632A>T, NM_001386876.1:c.*409A>T, NM_001386877.1:c.*409A>T, XM_047423721.1:c.*504A>T, XM_047423720.1:c.*409A>T, XM_047423723.1:c.*409A>T, XM_017015031.1:c.*409A>T, XM_024447652.1:c.*409A>T, XM_017015033.1:c.*409A>T, XM_017015034.1:c.*409A>T

                                16.

                                rs1452010757 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:41133727 (GRCh38)
                                  9:69206956 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:41133726:T:C
                                  Gene:
                                  CBWD6 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  NC_000009.12:g.41133727T>C, NC_000009.11:g.69206956T>C, XM_017015029.3:c.433A>G, XM_017015029.2:c.433A>G, XM_017015029.1:c.433A>G, XM_017015028.2:c.448A>G, XM_017015028.1:c.448A>G, NM_001085457.2:c.832A>G, NM_001085457.1:c.832A>G, XM_017015019.2:c.817A>G, XM_017015019.1:c.817A>G, XM_017015035.2:c.775A>G, XM_017015035.1:c.775A>G, XM_017015021.2:c.760A>G, XM_017015021.1:c.760A>G, XM_024447653.2:c.745A>G, XM_024447653.1:c.745A>G, XM_017015022.2:c.730A>G, XM_017015022.1:c.730A>G, XM_017015023.2:c.715A>G, XM_017015023.1:c.715A>G, XM_017015036.2:c.688A>G, XM_017015036.1:c.688A>G, XM_017015026.2:c.817A>G, XM_017015026.1:c.817A>G, XM_017015025.2:c.673A>G, XM_017015025.1:c.673A>G, XM_047423722.1:c.448A>G, NR_170339.1:n.867A>G, NM_001386876.1:c.772A>G, NM_001386877.1:c.685A>G, XM_047423721.1:c.772A>G, XM_047423720.1:c.628A>G, XM_047423723.1:c.289A>G, XM_017015031.1:c.373A>G, XM_024447652.1:c.328A>G, XM_017015033.1:c.286A>G, XM_017015034.1:c.34A>G, NM_020667.1:c.-42A>G, XP_016870518.1:p.Thr145Ala, XP_016870517.1:p.Thr150Ala, NP_001078926.1:p.Thr278Ala, XP_016870508.1:p.Thr273Ala, XP_016870524.1:p.Thr259Ala, XP_016870510.1:p.Thr254Ala, XP_024303421.1:p.Thr249Ala, XP_016870511.1:p.Thr244Ala, XP_016870512.1:p.Thr239Ala, XP_016870525.1:p.Thr230Ala, XP_016870515.1:p.Thr273Ala, XP_016870514.1:p.Thr225Ala, XP_047279678.1:p.Thr150Ala, NP_001373805.1:p.Thr258Ala, NP_001373806.1:p.Thr229Ala, XP_047279677.1:p.Thr258Ala, XP_047279676.1:p.Thr210Ala, XP_047279679.1:p.Thr97Ala, XP_016870520.1:p.Thr125Ala, XP_024303420.1:p.Thr110Ala, XP_016870522.1:p.Thr96Ala, XP_016870523.1:p.Thr12Ala

                                  17.

                                  rs1451670375 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:41131449 (GRCh38)
                                    9:69204678 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:41131448:T:C
                                    Gene:
                                    CBWD6 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.41131449T>C, NC_000009.11:g.69204678T>C, XM_017015029.3:c.*285A>G, XM_017015029.2:c.*285A>G, XM_017015029.1:c.*285A>G, XM_017015028.2:c.*285A>G, XM_017015028.1:c.*285A>G, NM_001085457.2:c.*285A>G, NM_001085457.1:c.*285A>G, XM_017015019.2:c.*285A>G, XM_017015019.1:c.*285A>G, XM_017015035.2:c.*285A>G, XM_017015035.1:c.*285A>G, XM_017015021.2:c.*285A>G, XM_017015021.1:c.*285A>G, XM_024447653.2:c.*285A>G, XM_024447653.1:c.*285A>G, XM_017015022.2:c.*285A>G, XM_017015022.1:c.*285A>G, XM_017015023.2:c.*285A>G, XM_017015023.1:c.*285A>G, XM_017015036.2:c.*285A>G, XM_017015036.1:c.*285A>G, XM_017015026.2:c.*380A>G, XM_017015026.1:c.*380A>G, XM_017015025.2:c.*285A>G, XM_017015025.1:c.*285A>G, XM_047423722.1:c.*285A>G, NR_170339.1:n.1508A>G, NM_001386876.1:c.*285A>G, NM_001386877.1:c.*285A>G, XM_047423721.1:c.*380A>G, XM_047423720.1:c.*285A>G, XM_047423723.1:c.*285A>G, XM_017015031.1:c.*285A>G, XM_024447652.1:c.*285A>G, XM_017015033.1:c.*285A>G, XM_017015034.1:c.*285A>G

                                    18.

                                    rs1447207508 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:41131749 (GRCh38)
                                      9:69204978 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:41131748:A:G
                                      Gene:
                                      CBWD6 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.00008/1 (ALFA)
                                      HGVS:
                                      NC_000009.12:g.41131749A>G, NC_000009.11:g.69204978A>G, XM_017015029.3:c.774T>C, XM_017015029.2:c.774T>C, XM_017015029.1:c.774T>C, XM_017015028.2:c.789T>C, XM_017015028.1:c.789T>C, NM_001085457.2:c.1173T>C, NM_001085457.1:c.1173T>C, XM_017015019.2:c.1158T>C, XM_017015019.1:c.1158T>C, XM_017015035.2:c.1116T>C, XM_017015035.1:c.1116T>C, XM_017015021.2:c.1101T>C, XM_017015021.1:c.1101T>C, XM_024447653.2:c.1086T>C, XM_024447653.1:c.1086T>C, XM_017015022.2:c.1071T>C, XM_017015022.1:c.1071T>C, XM_017015023.2:c.1056T>C, XM_017015023.1:c.1056T>C, XM_017015036.2:c.1029T>C, XM_017015036.1:c.1029T>C, XM_017015026.2:c.*80T>C, XM_017015026.1:c.*80T>C, XM_017015025.2:c.1014T>C, XM_017015025.1:c.1014T>C, XM_047423722.1:c.789T>C, NR_170339.1:n.1208T>C, NM_001386876.1:c.1113T>C, NM_001386877.1:c.1026T>C, XM_047423721.1:c.*80T>C, XM_047423720.1:c.969T>C, XM_047423723.1:c.630T>C, XM_017015031.1:c.714T>C, XM_024447652.1:c.669T>C, XM_017015033.1:c.627T>C, XM_017015034.1:c.375T>C, NM_020667.1:c.300T>C

                                      19.

                                      rs1446864488 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:41131837 (GRCh38)
                                        9:69205066 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:41131836:C:T
                                        Gene:
                                        CBWD6 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.00007/1 (ALFA)
                                        HGVS:
                                        NC_000009.12:g.41131837C>T, NC_000009.11:g.69205066C>T, XM_017015029.3:c.686G>A, XM_017015029.2:c.686G>A, XM_017015029.1:c.686G>A, XM_017015028.2:c.701G>A, XM_017015028.1:c.701G>A, NM_001085457.2:c.1085G>A, NM_001085457.1:c.1085G>A, XM_017015019.2:c.1070G>A, XM_017015019.1:c.1070G>A, XM_017015035.2:c.1028G>A, XM_017015035.1:c.1028G>A, XM_017015021.2:c.1013G>A, XM_017015021.1:c.1013G>A, XM_024447653.2:c.998G>A, XM_024447653.1:c.998G>A, XM_017015022.2:c.983G>A, XM_017015022.1:c.983G>A, XM_017015023.2:c.968G>A, XM_017015023.1:c.968G>A, XM_017015036.2:c.941G>A, XM_017015036.1:c.941G>A, XM_017015026.2:c.940G>A, XM_017015026.1:c.940G>A, XM_017015025.2:c.926G>A, XM_017015025.1:c.926G>A, XM_047423722.1:c.701G>A, NR_170339.1:n.1120G>A, NM_001386876.1:c.1025G>A, NM_001386877.1:c.938G>A, XM_047423721.1:c.895G>A, XM_047423720.1:c.881G>A, XM_047423723.1:c.542G>A, XM_017015031.1:c.626G>A, XM_024447652.1:c.581G>A, XM_017015033.1:c.539G>A, XM_017015034.1:c.287G>A, NM_020667.1:c.212G>A, XP_016870518.1:p.Arg229Lys, XP_016870517.1:p.Arg234Lys, NP_001078926.1:p.Arg362Lys, XP_016870508.1:p.Arg357Lys, XP_016870524.1:p.Arg343Lys, XP_016870510.1:p.Arg338Lys, XP_024303421.1:p.Arg333Lys, XP_016870511.1:p.Arg328Lys, XP_016870512.1:p.Arg323Lys, XP_016870525.1:p.Arg314Lys, XP_016870515.1:p.Glu314Lys, XP_016870514.1:p.Arg309Lys, XP_047279678.1:p.Arg234Lys, NP_001373805.1:p.Arg342Lys, NP_001373806.1:p.Arg313Lys, XP_047279677.1:p.Glu299Lys, XP_047279676.1:p.Arg294Lys, XP_047279679.1:p.Arg181Lys, XP_016870520.1:p.Arg209Lys, XP_024303420.1:p.Arg194Lys, XP_016870522.1:p.Arg180Lys, XP_016870523.1:p.Arg96Lys

                                        20.

                                        rs1445312423 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          9:41132259 (GRCh38)
                                          9:69205488 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:41132258:G:A,NC_000009.12:41132258:G:T
                                          Gene:
                                          CBWD6 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.41132259G>A, NC_000009.12:g.41132259G>T, NC_000009.11:g.69205488G>A, NC_000009.11:g.69205488G>T, XM_017015029.3:c.651C>T, XM_017015029.3:c.651C>A, XM_017015029.2:c.651C>T, XM_017015029.2:c.651C>A, XM_017015029.1:c.651C>T, XM_017015029.1:c.651C>A, XM_017015028.2:c.666C>T, XM_017015028.2:c.666C>A, XM_017015028.1:c.666C>T, XM_017015028.1:c.666C>A, NM_001085457.2:c.1050C>T, NM_001085457.2:c.1050C>A, NM_001085457.1:c.1050C>T, NM_001085457.1:c.1050C>A, XM_017015019.2:c.1035C>T, XM_017015019.2:c.1035C>A, XM_017015019.1:c.1035C>T, XM_017015019.1:c.1035C>A, XM_017015035.2:c.993C>T, XM_017015035.2:c.993C>A, XM_017015035.1:c.993C>T, XM_017015035.1:c.993C>A, XM_017015021.2:c.978C>T, XM_017015021.2:c.978C>A, XM_017015021.1:c.978C>T, XM_017015021.1:c.978C>A, XM_024447653.2:c.963C>T, XM_024447653.2:c.963C>A, XM_024447653.1:c.963C>T, XM_024447653.1:c.963C>A, XM_017015022.2:c.948C>T, XM_017015022.2:c.948C>A, XM_017015022.1:c.948C>T, XM_017015022.1:c.948C>A, XM_017015023.2:c.933C>T, XM_017015023.2:c.933C>A, XM_017015023.1:c.933C>T, XM_017015023.1:c.933C>A, XM_017015036.2:c.906C>T, XM_017015036.2:c.906C>A, XM_017015036.1:c.906C>T, XM_017015036.1:c.906C>A, XM_017015025.2:c.891C>T, XM_017015025.2:c.891C>A, XM_017015025.1:c.891C>T, XM_017015025.1:c.891C>A, XM_047423722.1:c.666C>T, XM_047423722.1:c.666C>A, NR_170339.1:n.1085C>T, NR_170339.1:n.1085C>A, NM_001386876.1:c.990C>T, NM_001386876.1:c.990C>A, NM_001386877.1:c.903C>T, NM_001386877.1:c.903C>A, XM_047423720.1:c.846C>T, XM_047423720.1:c.846C>A, XM_047423723.1:c.507C>T, XM_047423723.1:c.507C>A, XM_017015031.1:c.591C>T, XM_017015031.1:c.591C>A, XM_024447652.1:c.546C>T, XM_024447652.1:c.546C>A, XM_017015033.1:c.504C>T, XM_017015033.1:c.504C>A, XM_017015034.1:c.252C>T, XM_017015034.1:c.252C>A, NM_020667.1:c.177C>T, NM_020667.1:c.177C>A, XP_016870518.1:p.Asp217Glu, XP_016870517.1:p.Asp222Glu, NP_001078926.1:p.Asp350Glu, XP_016870508.1:p.Asp345Glu, XP_016870524.1:p.Asp331Glu, XP_016870510.1:p.Asp326Glu, XP_024303421.1:p.Asp321Glu, XP_016870511.1:p.Asp316Glu, XP_016870512.1:p.Asp311Glu, XP_016870525.1:p.Asp302Glu, XP_016870514.1:p.Asp297Glu, XP_047279678.1:p.Asp222Glu, NP_001373805.1:p.Asp330Glu, NP_001373806.1:p.Asp301Glu, XP_047279676.1:p.Asp282Glu, XP_047279679.1:p.Asp169Glu, XP_016870520.1:p.Asp197Glu, XP_024303420.1:p.Asp182Glu, XP_016870522.1:p.Asp168Glu, XP_016870523.1:p.Asp84Glu

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