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Items: 1 to 20 of 1386

1.

rs1488786641 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:183773639 (GRCh38)
    3:183491427 (GRCh37)
    Canonical SPDI:
    NC_000003.12:183773638:C:T
    Gene:
    YEATS2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000111/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.183773639C>T, NC_000003.11:g.183491427C>T, NG_054747.1:g.80843C>T, NM_018023.5:c.2213C>T, NM_018023.4:c.2213C>T, NM_001351370.2:c.2216C>T, NM_001351370.1:c.2216C>T, NM_001351369.2:c.2213C>T, NM_001351369.1:c.2213C>T, NM_001351371.2:c.2213C>T, NM_001351371.1:c.2213C>T, XM_005247598.6:c.2216C>T, XM_005247598.5:c.2216C>T, XM_005247598.4:c.2216C>T, XM_005247598.3:c.2216C>T, XM_005247598.2:c.2216C>T, XM_005247598.1:c.2216C>T, XM_017006811.3:c.2057C>T, XM_017006811.2:c.2057C>T, XM_017006811.1:c.2057C>T, XM_017006810.2:c.2213C>T, XM_017006810.1:c.2213C>T, XM_011512965.2:c.2054C>T, XM_011512965.1:c.2054C>T, XM_011512966.2:c.2216C>T, XM_011512966.1:c.2216C>T, XM_047448541.1:c.983C>T, XM_047448527.1:c.2216C>T, XM_047448528.1:c.2213C>T, XM_047448531.1:c.2051C>T, XM_047448530.1:c.2054C>T, XM_047448532.1:c.2051C>T, XM_047448533.1:c.2051C>T, XM_047448534.1:c.2216C>T, XM_047448535.1:c.2213C>T, XM_047448536.1:c.2216C>T, XM_047448538.1:c.2213C>T, XM_047448537.1:c.2216C>T, XM_047448540.1:c.2213C>T, XM_047448542.1:c.2051C>T, NP_060493.3:p.Ala738Val, NP_001338299.1:p.Ala739Val, NP_001338298.1:p.Ala738Val, NP_001338300.1:p.Ala738Val, XP_005247655.1:p.Ala739Val, XP_016862300.1:p.Ala686Val, XP_016862299.1:p.Ala738Val, XP_011511267.1:p.Ala685Val, XP_011511268.1:p.Ala739Val, XP_047304497.1:p.Ala328Val, XP_047304483.1:p.Ala739Val, XP_047304484.1:p.Ala738Val, XP_047304487.1:p.Ala684Val, XP_047304486.1:p.Ala685Val, XP_047304488.1:p.Ala684Val, XP_047304489.1:p.Ala684Val, XP_047304490.1:p.Ala739Val, XP_047304491.1:p.Ala738Val, XP_047304492.1:p.Ala739Val, XP_047304494.1:p.Ala738Val, XP_047304493.1:p.Ala739Val, XP_047304496.1:p.Ala738Val, XP_047304498.1:p.Ala684Val

    2.

    rs1488116945 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:183721975 (GRCh38)
      3:183439763 (GRCh37)
      Canonical SPDI:
      NC_000003.12:183721974:G:A
      Gene:
      YEATS2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.183721975G>A, NC_000003.11:g.183439763G>A, NG_054747.1:g.29179G>A, NM_018023.5:c.376G>A, NM_018023.4:c.376G>A, NM_001351370.2:c.376G>A, NM_001351370.1:c.376G>A, NM_001351369.2:c.376G>A, NM_001351369.1:c.376G>A, NM_001351371.2:c.376G>A, NM_001351371.1:c.376G>A, XM_005247598.6:c.376G>A, XM_005247598.5:c.376G>A, XM_005247598.4:c.376G>A, XM_005247598.3:c.376G>A, XM_005247598.2:c.376G>A, XM_005247598.1:c.376G>A, XM_017006811.3:c.217G>A, XM_017006811.2:c.217G>A, XM_017006811.1:c.217G>A, XM_017006810.2:c.376G>A, XM_017006810.1:c.376G>A, XM_011512965.2:c.376G>A, XM_011512965.1:c.376G>A, XM_011512966.2:c.376G>A, XM_011512966.1:c.376G>A, XM_047448527.1:c.376G>A, XM_047448528.1:c.376G>A, XM_047448531.1:c.376G>A, XM_047448530.1:c.376G>A, XM_047448532.1:c.376G>A, XM_047448533.1:c.376G>A, XM_047448534.1:c.376G>A, XM_047448535.1:c.376G>A, XM_047448536.1:c.376G>A, XM_047448538.1:c.376G>A, XM_047448537.1:c.376G>A, XM_047448540.1:c.376G>A, XM_047448542.1:c.376G>A, NP_060493.3:p.Ala126Thr, NP_001338299.1:p.Ala126Thr, NP_001338298.1:p.Ala126Thr, NP_001338300.1:p.Ala126Thr, XP_005247655.1:p.Ala126Thr, XP_016862300.1:p.Ala73Thr, XP_016862299.1:p.Ala126Thr, XP_011511267.1:p.Ala126Thr, XP_011511268.1:p.Ala126Thr, XP_047304483.1:p.Ala126Thr, XP_047304484.1:p.Ala126Thr, XP_047304487.1:p.Ala126Thr, XP_047304486.1:p.Ala126Thr, XP_047304488.1:p.Ala126Thr, XP_047304489.1:p.Ala126Thr, XP_047304490.1:p.Ala126Thr, XP_047304491.1:p.Ala126Thr, XP_047304492.1:p.Ala126Thr, XP_047304494.1:p.Ala126Thr, XP_047304493.1:p.Ala126Thr, XP_047304496.1:p.Ala126Thr, XP_047304498.1:p.Ala126Thr

      3.

      rs1488082894 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        3:183762257 (GRCh38)
        3:183480045 (GRCh37)
        Canonical SPDI:
        NC_000003.12:183762256:C:A
        Gene:
        YEATS2 (Varview)
        Functional Consequence:
        coding_sequence_variant,stop_gained
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.183762257C>A, NC_000003.11:g.183480045C>A, NG_054747.1:g.69461C>A, NM_018023.5:c.1925C>A, NM_018023.4:c.1925C>A, NM_001351370.2:c.1928C>A, NM_001351370.1:c.1928C>A, NM_001351369.2:c.1925C>A, NM_001351369.1:c.1925C>A, NM_001351371.2:c.1925C>A, NM_001351371.1:c.1925C>A, XM_005247598.6:c.1928C>A, XM_005247598.5:c.1928C>A, XM_005247598.4:c.1928C>A, XM_005247598.3:c.1928C>A, XM_005247598.2:c.1928C>A, XM_005247598.1:c.1928C>A, XM_017006811.3:c.1769C>A, XM_017006811.2:c.1769C>A, XM_017006811.1:c.1769C>A, XM_017006810.2:c.1925C>A, XM_017006810.1:c.1925C>A, XM_011512965.2:c.1766C>A, XM_011512965.1:c.1766C>A, XM_011512966.2:c.1928C>A, XM_011512966.1:c.1928C>A, XM_047448541.1:c.695C>A, XM_047448527.1:c.1928C>A, XM_047448528.1:c.1925C>A, XM_047448531.1:c.1763C>A, XM_047448530.1:c.1766C>A, XM_047448532.1:c.1763C>A, XM_047448533.1:c.1763C>A, XM_047448534.1:c.1928C>A, XM_047448535.1:c.1925C>A, XM_047448536.1:c.1928C>A, XM_047448538.1:c.1925C>A, XM_047448537.1:c.1928C>A, XM_047448540.1:c.1925C>A, XM_047448542.1:c.1763C>A, NP_060493.3:p.Ser642Ter, NP_001338299.1:p.Ser643Ter, NP_001338298.1:p.Ser642Ter, NP_001338300.1:p.Ser642Ter, XP_005247655.1:p.Ser643Ter, XP_016862300.1:p.Ser590Ter, XP_016862299.1:p.Ser642Ter, XP_011511267.1:p.Ser589Ter, XP_011511268.1:p.Ser643Ter, XP_047304497.1:p.Ser232Ter, XP_047304483.1:p.Ser643Ter, XP_047304484.1:p.Ser642Ter, XP_047304487.1:p.Ser588Ter, XP_047304486.1:p.Ser589Ter, XP_047304488.1:p.Ser588Ter, XP_047304489.1:p.Ser588Ter, XP_047304490.1:p.Ser643Ter, XP_047304491.1:p.Ser642Ter, XP_047304492.1:p.Ser643Ter, XP_047304494.1:p.Ser642Ter, XP_047304493.1:p.Ser643Ter, XP_047304496.1:p.Ser642Ter, XP_047304498.1:p.Ser588Ter

        4.

        rs1487117436 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:183803286 (GRCh38)
          3:183521074 (GRCh37)
          Canonical SPDI:
          NC_000003.12:183803285:C:T
          Gene:
          YEATS2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000003.12:g.183803286C>T, NC_000003.11:g.183521074C>T, NG_054747.1:g.110490C>T, NM_018023.5:c.3533C>T, NM_018023.4:c.3533C>T, NM_001351370.2:c.3536C>T, NM_001351370.1:c.3536C>T, NM_001351369.2:c.3533C>T, NM_001351369.1:c.3533C>T, XM_005247598.6:c.3536C>T, XM_005247598.5:c.3536C>T, XM_005247598.4:c.3536C>T, XM_005247598.3:c.3536C>T, XM_005247598.2:c.3536C>T, XM_005247598.1:c.3536C>T, XM_017006811.3:c.3377C>T, XM_017006811.2:c.3377C>T, XM_017006811.1:c.3377C>T, XM_017006810.2:c.3533C>T, XM_017006810.1:c.3533C>T, XM_011512965.2:c.3374C>T, XM_011512965.1:c.3374C>T, XM_047448541.1:c.2303C>T, XM_047448527.1:c.3536C>T, XM_047448528.1:c.3533C>T, XM_047448531.1:c.3371C>T, XM_047448530.1:c.3374C>T, XM_047448532.1:c.3371C>T, XM_047448533.1:c.3371C>T, NP_060493.3:p.Ser1178Phe, NP_001338299.1:p.Ser1179Phe, NP_001338298.1:p.Ser1178Phe, XP_005247655.1:p.Ser1179Phe, XP_016862300.1:p.Ser1126Phe, XP_016862299.1:p.Ser1178Phe, XP_011511267.1:p.Ser1125Phe, XP_047304497.1:p.Ser768Phe, XP_047304483.1:p.Ser1179Phe, XP_047304484.1:p.Ser1178Phe, XP_047304487.1:p.Ser1124Phe, XP_047304486.1:p.Ser1125Phe, XP_047304488.1:p.Ser1124Phe, XP_047304489.1:p.Ser1124Phe

          5.

          rs1484950762 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:183800489 (GRCh38)
            3:183518277 (GRCh37)
            Canonical SPDI:
            NC_000003.12:183800488:G:A
            Gene:
            YEATS2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.183800489G>A, NC_000003.11:g.183518277G>A, NG_054747.1:g.107693G>A, NM_018023.5:c.3349G>A, NM_018023.4:c.3349G>A, NM_001351370.2:c.3352G>A, NM_001351370.1:c.3352G>A, NM_001351369.2:c.3349G>A, NM_001351369.1:c.3349G>A, XM_005247598.6:c.3352G>A, XM_005247598.5:c.3352G>A, XM_005247598.4:c.3352G>A, XM_005247598.3:c.3352G>A, XM_005247598.2:c.3352G>A, XM_005247598.1:c.3352G>A, XM_017006811.3:c.3193G>A, XM_017006811.2:c.3193G>A, XM_017006811.1:c.3193G>A, XM_017006810.2:c.3349G>A, XM_017006810.1:c.3349G>A, XM_011512965.2:c.3190G>A, XM_011512965.1:c.3190G>A, XM_047448541.1:c.2119G>A, XM_047448527.1:c.3352G>A, XM_047448528.1:c.3349G>A, XM_047448531.1:c.3187G>A, XM_047448530.1:c.3190G>A, XM_047448532.1:c.3187G>A, XM_047448533.1:c.3187G>A, XM_047448534.1:c.3352G>A, XM_047448535.1:c.3349G>A, NP_060493.3:p.Gly1117Arg, NP_001338299.1:p.Gly1118Arg, NP_001338298.1:p.Gly1117Arg, XP_005247655.1:p.Gly1118Arg, XP_016862300.1:p.Gly1065Arg, XP_016862299.1:p.Gly1117Arg, XP_011511267.1:p.Gly1064Arg, XP_047304497.1:p.Gly707Arg, XP_047304483.1:p.Gly1118Arg, XP_047304484.1:p.Gly1117Arg, XP_047304487.1:p.Gly1063Arg, XP_047304486.1:p.Gly1064Arg, XP_047304488.1:p.Gly1063Arg, XP_047304489.1:p.Gly1063Arg, XP_047304490.1:p.Gly1118Arg, XP_047304491.1:p.Gly1117Arg

            6.

            rs1484695314 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:183721980 (GRCh38)
              3:183439768 (GRCh37)
              Canonical SPDI:
              NC_000003.12:183721979:T:C
              Gene:
              YEATS2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000011/3 (TOPMED)
              C=0.000021/3 (GnomAD)
              HGVS:
              NC_000003.12:g.183721980T>C, NC_000003.11:g.183439768T>C, NG_054747.1:g.29184T>C, NM_018023.5:c.381T>C, NM_018023.4:c.381T>C, NM_001351370.2:c.381T>C, NM_001351370.1:c.381T>C, NM_001351369.2:c.381T>C, NM_001351369.1:c.381T>C, NM_001351371.2:c.381T>C, NM_001351371.1:c.381T>C, XM_005247598.6:c.381T>C, XM_005247598.5:c.381T>C, XM_005247598.4:c.381T>C, XM_005247598.3:c.381T>C, XM_005247598.2:c.381T>C, XM_005247598.1:c.381T>C, XM_017006811.3:c.222T>C, XM_017006811.2:c.222T>C, XM_017006811.1:c.222T>C, XM_017006810.2:c.381T>C, XM_017006810.1:c.381T>C, XM_011512965.2:c.381T>C, XM_011512965.1:c.381T>C, XM_011512966.2:c.381T>C, XM_011512966.1:c.381T>C, XM_047448527.1:c.381T>C, XM_047448528.1:c.381T>C, XM_047448531.1:c.381T>C, XM_047448530.1:c.381T>C, XM_047448532.1:c.381T>C, XM_047448533.1:c.381T>C, XM_047448534.1:c.381T>C, XM_047448535.1:c.381T>C, XM_047448536.1:c.381T>C, XM_047448538.1:c.381T>C, XM_047448537.1:c.381T>C, XM_047448540.1:c.381T>C, XM_047448542.1:c.381T>C

              7.

              rs1483317055 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:183803311 (GRCh38)
                3:183521099 (GRCh37)
                Canonical SPDI:
                NC_000003.12:183803310:C:T
                Gene:
                YEATS2 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                HGVS:

                8.

                rs1483049661 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:183807050 (GRCh38)
                  3:183524838 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:183807049:A:G
                  Gene:
                  YEATS2 (Varview), YEATS2-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1481114521 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    3:183808098 (GRCh38)
                    3:183525886 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:183808097:C:G
                    Gene:
                    YEATS2 (Varview), YEATS2-AS1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000006/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.183808098C>G, NC_000003.11:g.183525886C>G, NG_054747.1:g.115302C>G, NM_018023.5:c.4080C>G, NM_018023.4:c.4080C>G, NM_001351370.2:c.4083C>G, NM_001351370.1:c.4083C>G, NM_001351369.2:c.4080C>G, NM_001351369.1:c.4080C>G, XM_005247598.6:c.4083C>G, XM_005247598.5:c.4083C>G, XM_005247598.4:c.4083C>G, XM_005247598.3:c.4083C>G, XM_005247598.2:c.4083C>G, XM_005247598.1:c.4083C>G, XM_017006811.3:c.3924C>G, XM_017006811.2:c.3924C>G, XM_017006811.1:c.3924C>G, XM_017006810.2:c.4080C>G, XM_017006810.1:c.4080C>G, XM_011512965.2:c.3921C>G, XM_011512965.1:c.3921C>G, XM_047448541.1:c.2850C>G, XM_047448527.1:c.4083C>G, XM_047448528.1:c.4080C>G, XM_047448531.1:c.3918C>G, XM_047448530.1:c.3921C>G, XM_047448532.1:c.3918C>G, XM_047448533.1:c.3918C>G, NR_046727.1:n.571G>C, NP_060493.3:p.Ile1360Met, NP_001338299.1:p.Ile1361Met, NP_001338298.1:p.Ile1360Met, XP_005247655.1:p.Ile1361Met, XP_016862300.1:p.Ile1308Met, XP_016862299.1:p.Ile1360Met, XP_011511267.1:p.Ile1307Met, XP_047304497.1:p.Ile950Met, XP_047304483.1:p.Ile1361Met, XP_047304484.1:p.Ile1360Met, XP_047304487.1:p.Ile1306Met, XP_047304486.1:p.Ile1307Met, XP_047304488.1:p.Ile1306Met, XP_047304489.1:p.Ile1306Met

                    10.

                    rs1479825447 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      3:183754298 (GRCh38)
                      3:183472086 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:183754297:G:C
                      Gene:
                      YEATS2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.000111/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.183754298G>C, NC_000003.11:g.183472086G>C, NG_054747.1:g.61502G>C, NM_018023.5:c.1323G>C, NM_018023.4:c.1323G>C, NM_001351370.2:c.1326G>C, NM_001351370.1:c.1326G>C, NM_001351369.2:c.1323G>C, NM_001351369.1:c.1323G>C, NM_001351371.2:c.1323G>C, NM_001351371.1:c.1323G>C, XM_005247598.6:c.1326G>C, XM_005247598.5:c.1326G>C, XM_005247598.4:c.1326G>C, XM_005247598.3:c.1326G>C, XM_005247598.2:c.1326G>C, XM_005247598.1:c.1326G>C, XM_017006811.3:c.1167G>C, XM_017006811.2:c.1167G>C, XM_017006811.1:c.1167G>C, XM_017006810.2:c.1323G>C, XM_017006810.1:c.1323G>C, XM_011512965.2:c.1164G>C, XM_011512965.1:c.1164G>C, XM_011512966.2:c.1326G>C, XM_011512966.1:c.1326G>C, XM_047448541.1:c.93G>C, XM_047448527.1:c.1326G>C, XM_047448528.1:c.1323G>C, XM_047448531.1:c.1161G>C, XM_047448530.1:c.1164G>C, XM_047448532.1:c.1161G>C, XM_047448533.1:c.1161G>C, XM_047448534.1:c.1326G>C, XM_047448535.1:c.1323G>C, XM_047448536.1:c.1326G>C, XM_047448538.1:c.1323G>C, XM_047448537.1:c.1326G>C, XM_047448540.1:c.1323G>C, XM_047448542.1:c.1161G>C, NP_060493.3:p.Gln441His, NP_001338299.1:p.Gln442His, NP_001338298.1:p.Gln441His, NP_001338300.1:p.Gln441His, XP_005247655.1:p.Gln442His, XP_016862300.1:p.Gln389His, XP_016862299.1:p.Gln441His, XP_011511267.1:p.Gln388His, XP_011511268.1:p.Gln442His, XP_047304497.1:p.Gln31His, XP_047304483.1:p.Gln442His, XP_047304484.1:p.Gln441His, XP_047304487.1:p.Gln387His, XP_047304486.1:p.Gln388His, XP_047304488.1:p.Gln387His, XP_047304489.1:p.Gln387His, XP_047304490.1:p.Gln442His, XP_047304491.1:p.Gln441His, XP_047304492.1:p.Gln442His, XP_047304494.1:p.Gln441His, XP_047304493.1:p.Gln442His, XP_047304496.1:p.Gln441His, XP_047304498.1:p.Gln387His

                      11.

                      rs1479769745 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:183797996 (GRCh38)
                        3:183515784 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:183797995:A:G
                        Gene:
                        YEATS2 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000003.12:g.183797996A>G, NC_000003.11:g.183515784A>G, NG_054747.1:g.105200A>G, NM_018023.5:c.3171A>G, NM_018023.4:c.3171A>G, NM_001351370.2:c.3174A>G, NM_001351370.1:c.3174A>G, NM_001351369.2:c.3171A>G, NM_001351369.1:c.3171A>G, XM_005247598.6:c.3174A>G, XM_005247598.5:c.3174A>G, XM_005247598.4:c.3174A>G, XM_005247598.3:c.3174A>G, XM_005247598.2:c.3174A>G, XM_005247598.1:c.3174A>G, XM_017006811.3:c.3015A>G, XM_017006811.2:c.3015A>G, XM_017006811.1:c.3015A>G, XM_017006810.2:c.3171A>G, XM_017006810.1:c.3171A>G, XM_011512965.2:c.3012A>G, XM_011512965.1:c.3012A>G, XM_047448541.1:c.1941A>G, XM_047448527.1:c.3174A>G, XM_047448528.1:c.3171A>G, XM_047448531.1:c.3009A>G, XM_047448530.1:c.3012A>G, XM_047448532.1:c.3009A>G, XM_047448533.1:c.3009A>G, XM_047448534.1:c.3174A>G, XM_047448535.1:c.3171A>G

                        12.

                        rs1479021380 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          3:183717687 (GRCh38)
                          3:183435475 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:183717686:T:G
                          Gene:
                          YEATS2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.000047/1 (ALFA)
                          G=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.183717687T>G, NC_000003.11:g.183435475T>G, NG_054747.1:g.24891T>G, NM_018023.5:c.137T>G, NM_018023.4:c.137T>G, NM_001351370.2:c.137T>G, NM_001351370.1:c.137T>G, NM_001351369.2:c.137T>G, NM_001351369.1:c.137T>G, NM_001351371.2:c.137T>G, NM_001351371.1:c.137T>G, XM_005247598.6:c.137T>G, XM_005247598.5:c.137T>G, XM_005247598.4:c.137T>G, XM_005247598.3:c.137T>G, XM_005247598.2:c.137T>G, XM_005247598.1:c.137T>G, XM_017006811.3:c.-23T>G, XM_017006811.2:c.-23T>G, XM_017006811.1:c.-23T>G, XM_017006810.2:c.137T>G, XM_017006810.1:c.137T>G, XM_011512965.2:c.137T>G, XM_011512965.1:c.137T>G, XM_011512966.2:c.137T>G, XM_011512966.1:c.137T>G, XM_047448527.1:c.137T>G, XM_047448528.1:c.137T>G, XM_047448531.1:c.137T>G, XM_047448530.1:c.137T>G, XM_047448532.1:c.137T>G, XM_047448533.1:c.137T>G, XM_047448534.1:c.137T>G, XM_047448535.1:c.137T>G, XM_047448536.1:c.137T>G, XM_047448538.1:c.137T>G, XM_047448537.1:c.137T>G, XM_047448540.1:c.137T>G, XM_047448542.1:c.137T>G, NP_060493.3:p.Ile46Ser, NP_001338299.1:p.Ile46Ser, NP_001338298.1:p.Ile46Ser, NP_001338300.1:p.Ile46Ser, XP_005247655.1:p.Ile46Ser, XP_016862299.1:p.Ile46Ser, XP_011511267.1:p.Ile46Ser, XP_011511268.1:p.Ile46Ser, XP_047304483.1:p.Ile46Ser, XP_047304484.1:p.Ile46Ser, XP_047304487.1:p.Ile46Ser, XP_047304486.1:p.Ile46Ser, XP_047304488.1:p.Ile46Ser, XP_047304489.1:p.Ile46Ser, XP_047304490.1:p.Ile46Ser, XP_047304491.1:p.Ile46Ser, XP_047304492.1:p.Ile46Ser, XP_047304494.1:p.Ile46Ser, XP_047304493.1:p.Ile46Ser, XP_047304496.1:p.Ile46Ser, XP_047304498.1:p.Ile46Ser

                          13.

                          rs1478698945 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:183762273 (GRCh38)
                            3:183480061 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:183762272:C:T
                            Gene:
                            YEATS2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.183762273C>T, NC_000003.11:g.183480061C>T, NG_054747.1:g.69477C>T, NM_018023.5:c.1941C>T, NM_018023.4:c.1941C>T, NM_001351370.2:c.1944C>T, NM_001351370.1:c.1944C>T, NM_001351369.2:c.1941C>T, NM_001351369.1:c.1941C>T, NM_001351371.2:c.1941C>T, NM_001351371.1:c.1941C>T, XM_005247598.6:c.1944C>T, XM_005247598.5:c.1944C>T, XM_005247598.4:c.1944C>T, XM_005247598.3:c.1944C>T, XM_005247598.2:c.1944C>T, XM_005247598.1:c.1944C>T, XM_017006811.3:c.1785C>T, XM_017006811.2:c.1785C>T, XM_017006811.1:c.1785C>T, XM_017006810.2:c.1941C>T, XM_017006810.1:c.1941C>T, XM_011512965.2:c.1782C>T, XM_011512965.1:c.1782C>T, XM_011512966.2:c.1944C>T, XM_011512966.1:c.1944C>T, XM_047448541.1:c.711C>T, XM_047448527.1:c.1944C>T, XM_047448528.1:c.1941C>T, XM_047448531.1:c.1779C>T, XM_047448530.1:c.1782C>T, XM_047448532.1:c.1779C>T, XM_047448533.1:c.1779C>T, XM_047448534.1:c.1944C>T, XM_047448535.1:c.1941C>T, XM_047448536.1:c.1944C>T, XM_047448538.1:c.1941C>T, XM_047448537.1:c.1944C>T, XM_047448540.1:c.1941C>T, XM_047448542.1:c.1779C>T

                            14.

                            rs1478648310 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:183756578 (GRCh38)
                              3:183474366 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:183756577:T:C
                              Gene:
                              YEATS2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0./0 (GnomAD)
                              C=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.183756578T>C, NC_000003.11:g.183474366T>C, NG_054747.1:g.63782T>C, NM_018023.5:c.1441T>C, NM_018023.4:c.1441T>C, NM_001351370.2:c.1444T>C, NM_001351370.1:c.1444T>C, NM_001351369.2:c.1441T>C, NM_001351369.1:c.1441T>C, NM_001351371.2:c.1441T>C, NM_001351371.1:c.1441T>C, XM_005247598.6:c.1444T>C, XM_005247598.5:c.1444T>C, XM_005247598.4:c.1444T>C, XM_005247598.3:c.1444T>C, XM_005247598.2:c.1444T>C, XM_005247598.1:c.1444T>C, XM_017006811.3:c.1285T>C, XM_017006811.2:c.1285T>C, XM_017006811.1:c.1285T>C, XM_017006810.2:c.1441T>C, XM_017006810.1:c.1441T>C, XM_011512965.2:c.1282T>C, XM_011512965.1:c.1282T>C, XM_011512966.2:c.1444T>C, XM_011512966.1:c.1444T>C, XM_047448541.1:c.211T>C, XM_047448527.1:c.1444T>C, XM_047448528.1:c.1441T>C, XM_047448531.1:c.1279T>C, XM_047448530.1:c.1282T>C, XM_047448532.1:c.1279T>C, XM_047448533.1:c.1279T>C, XM_047448534.1:c.1444T>C, XM_047448535.1:c.1441T>C, XM_047448536.1:c.1444T>C, XM_047448538.1:c.1441T>C, XM_047448537.1:c.1444T>C, XM_047448540.1:c.1441T>C, XM_047448542.1:c.1279T>C, NP_060493.3:p.Ser481Pro, NP_001338299.1:p.Ser482Pro, NP_001338298.1:p.Ser481Pro, NP_001338300.1:p.Ser481Pro, XP_005247655.1:p.Ser482Pro, XP_016862300.1:p.Ser429Pro, XP_016862299.1:p.Ser481Pro, XP_011511267.1:p.Ser428Pro, XP_011511268.1:p.Ser482Pro, XP_047304497.1:p.Ser71Pro, XP_047304483.1:p.Ser482Pro, XP_047304484.1:p.Ser481Pro, XP_047304487.1:p.Ser427Pro, XP_047304486.1:p.Ser428Pro, XP_047304488.1:p.Ser427Pro, XP_047304489.1:p.Ser427Pro, XP_047304490.1:p.Ser482Pro, XP_047304491.1:p.Ser481Pro, XP_047304492.1:p.Ser482Pro, XP_047304494.1:p.Ser481Pro, XP_047304493.1:p.Ser482Pro, XP_047304496.1:p.Ser481Pro, XP_047304498.1:p.Ser427Pro

                              15.

                              rs1478362378 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:183772338 (GRCh38)
                                3:183490126 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:183772337:T:C
                                Gene:
                                YEATS2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.183772338T>C, NC_000003.11:g.183490126T>C, NG_054747.1:g.79542T>C, NM_018023.5:c.1981T>C, NM_018023.4:c.1981T>C, NM_001351370.2:c.1984T>C, NM_001351370.1:c.1984T>C, NM_001351369.2:c.1981T>C, NM_001351369.1:c.1981T>C, NM_001351371.2:c.1981T>C, NM_001351371.1:c.1981T>C, XM_005247598.6:c.1984T>C, XM_005247598.5:c.1984T>C, XM_005247598.4:c.1984T>C, XM_005247598.3:c.1984T>C, XM_005247598.2:c.1984T>C, XM_005247598.1:c.1984T>C, XM_017006811.3:c.1825T>C, XM_017006811.2:c.1825T>C, XM_017006811.1:c.1825T>C, XM_017006810.2:c.1981T>C, XM_017006810.1:c.1981T>C, XM_011512965.2:c.1822T>C, XM_011512965.1:c.1822T>C, XM_011512966.2:c.1984T>C, XM_011512966.1:c.1984T>C, XM_047448541.1:c.751T>C, XM_047448527.1:c.1984T>C, XM_047448528.1:c.1981T>C, XM_047448531.1:c.1819T>C, XM_047448530.1:c.1822T>C, XM_047448532.1:c.1819T>C, XM_047448533.1:c.1819T>C, XM_047448534.1:c.1984T>C, XM_047448535.1:c.1981T>C, XM_047448536.1:c.1984T>C, XM_047448538.1:c.1981T>C, XM_047448537.1:c.1984T>C, XM_047448540.1:c.1981T>C, XM_047448542.1:c.1819T>C, NP_060493.3:p.Ser661Pro, NP_001338299.1:p.Ser662Pro, NP_001338298.1:p.Ser661Pro, NP_001338300.1:p.Ser661Pro, XP_005247655.1:p.Ser662Pro, XP_016862300.1:p.Ser609Pro, XP_016862299.1:p.Ser661Pro, XP_011511267.1:p.Ser608Pro, XP_011511268.1:p.Ser662Pro, XP_047304497.1:p.Ser251Pro, XP_047304483.1:p.Ser662Pro, XP_047304484.1:p.Ser661Pro, XP_047304487.1:p.Ser607Pro, XP_047304486.1:p.Ser608Pro, XP_047304488.1:p.Ser607Pro, XP_047304489.1:p.Ser607Pro, XP_047304490.1:p.Ser662Pro, XP_047304491.1:p.Ser661Pro, XP_047304492.1:p.Ser662Pro, XP_047304494.1:p.Ser661Pro, XP_047304493.1:p.Ser662Pro, XP_047304496.1:p.Ser661Pro, XP_047304498.1:p.Ser607Pro

                                16.

                                rs1478248032 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  3:183756642 (GRCh38)
                                  3:183474430 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:183756641:T:A
                                  Gene:
                                  YEATS2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0./0 (GnomAD)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.183756642T>A, NC_000003.11:g.183474430T>A, NG_054747.1:g.63846T>A, NM_018023.5:c.1505T>A, NM_018023.4:c.1505T>A, NM_001351370.2:c.1508T>A, NM_001351370.1:c.1508T>A, NM_001351369.2:c.1505T>A, NM_001351369.1:c.1505T>A, NM_001351371.2:c.1505T>A, NM_001351371.1:c.1505T>A, XM_005247598.6:c.1508T>A, XM_005247598.5:c.1508T>A, XM_005247598.4:c.1508T>A, XM_005247598.3:c.1508T>A, XM_005247598.2:c.1508T>A, XM_005247598.1:c.1508T>A, XM_017006811.3:c.1349T>A, XM_017006811.2:c.1349T>A, XM_017006811.1:c.1349T>A, XM_017006810.2:c.1505T>A, XM_017006810.1:c.1505T>A, XM_011512965.2:c.1346T>A, XM_011512965.1:c.1346T>A, XM_011512966.2:c.1508T>A, XM_011512966.1:c.1508T>A, XM_047448541.1:c.275T>A, XM_047448527.1:c.1508T>A, XM_047448528.1:c.1505T>A, XM_047448531.1:c.1343T>A, XM_047448530.1:c.1346T>A, XM_047448532.1:c.1343T>A, XM_047448533.1:c.1343T>A, XM_047448534.1:c.1508T>A, XM_047448535.1:c.1505T>A, XM_047448536.1:c.1508T>A, XM_047448538.1:c.1505T>A, XM_047448537.1:c.1508T>A, XM_047448540.1:c.1505T>A, XM_047448542.1:c.1343T>A, NP_060493.3:p.Met502Lys, NP_001338299.1:p.Met503Lys, NP_001338298.1:p.Met502Lys, NP_001338300.1:p.Met502Lys, XP_005247655.1:p.Met503Lys, XP_016862300.1:p.Met450Lys, XP_016862299.1:p.Met502Lys, XP_011511267.1:p.Met449Lys, XP_011511268.1:p.Met503Lys, XP_047304497.1:p.Met92Lys, XP_047304483.1:p.Met503Lys, XP_047304484.1:p.Met502Lys, XP_047304487.1:p.Met448Lys, XP_047304486.1:p.Met449Lys, XP_047304488.1:p.Met448Lys, XP_047304489.1:p.Met448Lys, XP_047304490.1:p.Met503Lys, XP_047304491.1:p.Met502Lys, XP_047304492.1:p.Met503Lys, XP_047304494.1:p.Met502Lys, XP_047304493.1:p.Met503Lys, XP_047304496.1:p.Met502Lys, XP_047304498.1:p.Met448Lys

                                  17.

                                  rs1477061088 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:183724432 (GRCh38)
                                    3:183442220 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:183724431:T:C
                                    Gene:
                                    YEATS2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.183724432T>C, NC_000003.11:g.183442220T>C, NG_054747.1:g.31636T>C, NM_018023.5:c.551T>C, NM_018023.4:c.551T>C, NM_001351370.2:c.551T>C, NM_001351370.1:c.551T>C, NM_001351369.2:c.551T>C, NM_001351369.1:c.551T>C, NM_001351371.2:c.551T>C, NM_001351371.1:c.551T>C, XM_005247598.6:c.551T>C, XM_005247598.5:c.551T>C, XM_005247598.4:c.551T>C, XM_005247598.3:c.551T>C, XM_005247598.2:c.551T>C, XM_005247598.1:c.551T>C, XM_017006811.3:c.392T>C, XM_017006811.2:c.392T>C, XM_017006811.1:c.392T>C, XM_017006810.2:c.551T>C, XM_017006810.1:c.551T>C, XM_011512965.2:c.551T>C, XM_011512965.1:c.551T>C, XM_011512966.2:c.551T>C, XM_011512966.1:c.551T>C, XM_047448527.1:c.551T>C, XM_047448528.1:c.551T>C, XM_047448531.1:c.551T>C, XM_047448530.1:c.551T>C, XM_047448532.1:c.551T>C, XM_047448533.1:c.551T>C, XM_047448534.1:c.551T>C, XM_047448535.1:c.551T>C, XM_047448536.1:c.551T>C, XM_047448538.1:c.551T>C, XM_047448537.1:c.551T>C, XM_047448540.1:c.551T>C, XM_047448542.1:c.551T>C, NP_060493.3:p.Ile184Thr, NP_001338299.1:p.Ile184Thr, NP_001338298.1:p.Ile184Thr, NP_001338300.1:p.Ile184Thr, XP_005247655.1:p.Ile184Thr, XP_016862300.1:p.Ile131Thr, XP_016862299.1:p.Ile184Thr, XP_011511267.1:p.Ile184Thr, XP_011511268.1:p.Ile184Thr, XP_047304483.1:p.Ile184Thr, XP_047304484.1:p.Ile184Thr, XP_047304487.1:p.Ile184Thr, XP_047304486.1:p.Ile184Thr, XP_047304488.1:p.Ile184Thr, XP_047304489.1:p.Ile184Thr, XP_047304490.1:p.Ile184Thr, XP_047304491.1:p.Ile184Thr, XP_047304492.1:p.Ile184Thr, XP_047304494.1:p.Ile184Thr, XP_047304493.1:p.Ile184Thr, XP_047304496.1:p.Ile184Thr, XP_047304498.1:p.Ile184Thr

                                    18.

                                    rs1477008895 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:183808050 (GRCh38)
                                      3:183525838 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:183808049:C:T
                                      Gene:
                                      YEATS2 (Varview), YEATS2-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1476512665 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:183790971 (GRCh38)
                                        3:183508759 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:183790970:A:G
                                        Gene:
                                        YEATS2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.183790971A>G, NC_000003.11:g.183508759A>G, NG_054747.1:g.98175A>G, NM_018023.5:c.3088A>G, NM_018023.4:c.3088A>G, NM_001351370.2:c.3091A>G, NM_001351370.1:c.3091A>G, NM_001351369.2:c.3088A>G, NM_001351369.1:c.3088A>G, NM_001351371.2:c.3088A>G, NM_001351371.1:c.3088A>G, XM_005247598.6:c.3091A>G, XM_005247598.5:c.3091A>G, XM_005247598.4:c.3091A>G, XM_005247598.3:c.3091A>G, XM_005247598.2:c.3091A>G, XM_005247598.1:c.3091A>G, XM_017006811.3:c.2932A>G, XM_017006811.2:c.2932A>G, XM_017006811.1:c.2932A>G, XM_017006810.2:c.3088A>G, XM_017006810.1:c.3088A>G, XM_011512965.2:c.2929A>G, XM_011512965.1:c.2929A>G, XM_011512966.2:c.3091A>G, XM_011512966.1:c.3091A>G, XM_047448541.1:c.1858A>G, XM_047448527.1:c.3091A>G, XM_047448528.1:c.3088A>G, XM_047448531.1:c.2926A>G, XM_047448530.1:c.2929A>G, XM_047448532.1:c.2926A>G, XM_047448533.1:c.2926A>G, XM_047448534.1:c.3091A>G, XM_047448535.1:c.3088A>G, XM_047448536.1:c.3091A>G, XM_047448538.1:c.3088A>G, XM_047448537.1:c.3091A>G, XM_047448540.1:c.3088A>G, XM_047448542.1:c.2926A>G, NP_060493.3:p.Thr1030Ala, NP_001338299.1:p.Thr1031Ala, NP_001338298.1:p.Thr1030Ala, NP_001338300.1:p.Thr1030Ala, XP_005247655.1:p.Thr1031Ala, XP_016862300.1:p.Thr978Ala, XP_016862299.1:p.Thr1030Ala, XP_011511267.1:p.Thr977Ala, XP_011511268.1:p.Thr1031Ala, XP_047304497.1:p.Thr620Ala, XP_047304483.1:p.Thr1031Ala, XP_047304484.1:p.Thr1030Ala, XP_047304487.1:p.Thr976Ala, XP_047304486.1:p.Thr977Ala, XP_047304488.1:p.Thr976Ala, XP_047304489.1:p.Thr976Ala, XP_047304490.1:p.Thr1031Ala, XP_047304491.1:p.Thr1030Ala, XP_047304492.1:p.Thr1031Ala, XP_047304494.1:p.Thr1030Ala, XP_047304493.1:p.Thr1031Ala, XP_047304496.1:p.Thr1030Ala, XP_047304498.1:p.Thr976Ala

                                        20.

                                        rs1475042910 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:183756583 (GRCh38)
                                          3:183474371 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:183756582:T:C
                                          Gene:
                                          YEATS2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.183756583T>C, NC_000003.11:g.183474371T>C, NG_054747.1:g.63787T>C, NM_018023.5:c.1446T>C, NM_018023.4:c.1446T>C, NM_001351370.2:c.1449T>C, NM_001351370.1:c.1449T>C, NM_001351369.2:c.1446T>C, NM_001351369.1:c.1446T>C, NM_001351371.2:c.1446T>C, NM_001351371.1:c.1446T>C, XM_005247598.6:c.1449T>C, XM_005247598.5:c.1449T>C, XM_005247598.4:c.1449T>C, XM_005247598.3:c.1449T>C, XM_005247598.2:c.1449T>C, XM_005247598.1:c.1449T>C, XM_017006811.3:c.1290T>C, XM_017006811.2:c.1290T>C, XM_017006811.1:c.1290T>C, XM_017006810.2:c.1446T>C, XM_017006810.1:c.1446T>C, XM_011512965.2:c.1287T>C, XM_011512965.1:c.1287T>C, XM_011512966.2:c.1449T>C, XM_011512966.1:c.1449T>C, XM_047448541.1:c.216T>C, XM_047448527.1:c.1449T>C, XM_047448528.1:c.1446T>C, XM_047448531.1:c.1284T>C, XM_047448530.1:c.1287T>C, XM_047448532.1:c.1284T>C, XM_047448533.1:c.1284T>C, XM_047448534.1:c.1449T>C, XM_047448535.1:c.1446T>C, XM_047448536.1:c.1449T>C, XM_047448538.1:c.1446T>C, XM_047448537.1:c.1449T>C, XM_047448540.1:c.1446T>C, XM_047448542.1:c.1284T>C

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