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Items: 1 to 20 of 58

1.

rs1486690095 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:15796468 (GRCh38)
    3:15837975 (GRCh37)
    Canonical SPDI:
    NC_000003.12:15796467:T:C
    Gene:
    ANKRD28 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1474241017 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:15796411 (GRCh38)
      3:15837918 (GRCh37)
      Canonical SPDI:
      NC_000003.12:15796410:A:G
      Gene:
      ANKRD28 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000007/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1455866562 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        3:15796421 (GRCh38)
        3:15837928 (GRCh37)
        Canonical SPDI:
        NC_000003.12:15796420:G:A,NC_000003.12:15796420:G:C
        Gene:
        ANKRD28 (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000043/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        C=0.000007/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.15796421G>A, NC_000003.12:g.15796421G>C, NC_000003.11:g.15837928G>A, NC_000003.11:g.15837928G>C, NM_001349277.2:c.101C>T, NM_001349277.2:c.101C>G, NM_001349277.1:c.101C>T, NM_001349277.1:c.101C>G, NM_001349278.2:c.101C>T, NM_001349278.2:c.101C>G, NM_001349278.1:c.101C>T, NM_001349278.1:c.101C>G, NM_001349282.2:c.-96C>T, NM_001349282.2:c.-96C>G, NM_001349282.1:c.-96C>T, NM_001349282.1:c.-96C>G, NM_001349281.2:c.-87C>T, NM_001349281.2:c.-87C>G, NM_001349281.1:c.-87C>T, NM_001349281.1:c.-87C>G, XM_024453418.2:c.44C>T, XM_024453418.2:c.44C>G, XM_024453418.1:c.44C>T, XM_024453418.1:c.44C>G, XM_024453419.2:c.44C>T, XM_024453419.2:c.44C>G, XM_024453419.1:c.44C>T, XM_024453419.1:c.44C>G, NR_146112.2:n.1559C>T, NR_146112.2:n.1559C>G, NR_146112.1:n.1764C>T, NR_146112.1:n.1764C>G, NM_001349284.2:c.101C>T, NM_001349284.2:c.101C>G, NM_001349284.1:c.101C>T, NM_001349284.1:c.101C>G, NM_001349285.2:c.101C>T, NM_001349285.2:c.101C>G, NM_001349285.1:c.101C>T, NM_001349285.1:c.101C>G, XM_047447802.1:c.101C>T, XM_047447802.1:c.101C>G, XM_047447803.1:c.101C>T, XM_047447803.1:c.101C>G, XM_047447804.1:c.-96C>T, XM_047447804.1:c.-96C>G, XM_047447805.1:c.-87C>T, XM_047447805.1:c.-87C>G, XM_047447800.1:c.101C>T, XM_047447800.1:c.101C>G, XM_047447801.1:c.101C>T, XM_047447801.1:c.101C>G, XR_007095652.1:n.1559C>T, XR_007095652.1:n.1559C>G, XM_047447811.1:c.101C>T, XM_047447811.1:c.101C>G, XM_047447812.1:c.101C>T, XM_047447812.1:c.101C>G, NP_001336206.1:p.Pro34Leu, NP_001336206.1:p.Pro34Arg, NP_001336207.1:p.Pro34Leu, NP_001336207.1:p.Pro34Arg, XP_024309186.1:p.Pro15Leu, XP_024309186.1:p.Pro15Arg, XP_024309187.1:p.Pro15Leu, XP_024309187.1:p.Pro15Arg, NP_001336213.1:p.Pro34Leu, NP_001336213.1:p.Pro34Arg, NP_001336214.1:p.Pro34Leu, NP_001336214.1:p.Pro34Arg, XP_047303758.1:p.Pro34Leu, XP_047303758.1:p.Pro34Arg, XP_047303759.1:p.Pro34Leu, XP_047303759.1:p.Pro34Arg, XP_047303756.1:p.Pro34Leu, XP_047303756.1:p.Pro34Arg, XP_047303757.1:p.Pro34Leu, XP_047303757.1:p.Pro34Arg, XP_047303767.1:p.Pro34Leu, XP_047303767.1:p.Pro34Arg, XP_047303768.1:p.Pro34Leu, XP_047303768.1:p.Pro34Arg

        4.

        rs1444891692 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          3:15796500 (GRCh38)
          3:15838007 (GRCh37)
          Canonical SPDI:
          NC_000003.12:15796499:C:A,NC_000003.12:15796499:C:T
          Gene:
          ANKRD28 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.15796500C>A, NC_000003.12:g.15796500C>T, NC_000003.11:g.15838007C>A, NC_000003.11:g.15838007C>T, NM_001349277.2:c.22G>T, NM_001349277.2:c.22G>A, NM_001349277.1:c.22G>T, NM_001349277.1:c.22G>A, NM_001349278.2:c.22G>T, NM_001349278.2:c.22G>A, NM_001349278.1:c.22G>T, NM_001349278.1:c.22G>A, NR_146112.2:n.1480G>T, NR_146112.2:n.1480G>A, NR_146112.1:n.1685G>T, NR_146112.1:n.1685G>A, NM_001349284.2:c.22G>T, NM_001349284.2:c.22G>A, NM_001349284.1:c.22G>T, NM_001349284.1:c.22G>A, NM_001349285.2:c.22G>T, NM_001349285.2:c.22G>A, NM_001349285.1:c.22G>T, NM_001349285.1:c.22G>A, XM_047447802.1:c.22G>T, XM_047447802.1:c.22G>A, XM_047447803.1:c.22G>T, XM_047447803.1:c.22G>A, XM_047447800.1:c.22G>T, XM_047447800.1:c.22G>A, XM_047447801.1:c.22G>T, XM_047447801.1:c.22G>A, XR_007095652.1:n.1480G>T, XR_007095652.1:n.1480G>A, XM_047447811.1:c.22G>T, XM_047447811.1:c.22G>A, XM_047447812.1:c.22G>T, XM_047447812.1:c.22G>A, NP_001336206.1:p.Val8Phe, NP_001336206.1:p.Val8Ile, NP_001336207.1:p.Val8Phe, NP_001336207.1:p.Val8Ile, NP_001336213.1:p.Val8Phe, NP_001336213.1:p.Val8Ile, NP_001336214.1:p.Val8Phe, NP_001336214.1:p.Val8Ile, XP_047303758.1:p.Val8Phe, XP_047303758.1:p.Val8Ile, XP_047303759.1:p.Val8Phe, XP_047303759.1:p.Val8Ile, XP_047303756.1:p.Val8Phe, XP_047303756.1:p.Val8Ile, XP_047303757.1:p.Val8Phe, XP_047303757.1:p.Val8Ile, XP_047303767.1:p.Val8Phe, XP_047303767.1:p.Val8Ile, XP_047303768.1:p.Val8Phe, XP_047303768.1:p.Val8Ile

          5.

          rs1430947325 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            3:15796427 (GRCh38)
            3:15837934 (GRCh37)
            Canonical SPDI:
            NC_000003.12:15796426:G:T
            Gene:
            ANKRD28 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000022/3 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.15796427G>T, NC_000003.11:g.15837934G>T, NM_001349277.2:c.95C>A, NM_001349277.1:c.95C>A, NM_001349278.2:c.95C>A, NM_001349278.1:c.95C>A, NM_001349282.2:c.-102C>A, NM_001349282.1:c.-102C>A, NM_001349281.2:c.-93C>A, NM_001349281.1:c.-93C>A, XM_024453418.2:c.38C>A, XM_024453418.1:c.38C>A, XM_024453419.2:c.38C>A, XM_024453419.1:c.38C>A, NR_146112.2:n.1553C>A, NR_146112.1:n.1758C>A, NM_001349284.2:c.95C>A, NM_001349284.1:c.95C>A, NM_001349285.2:c.95C>A, NM_001349285.1:c.95C>A, XM_047447802.1:c.95C>A, XM_047447803.1:c.95C>A, XM_047447804.1:c.-102C>A, XM_047447805.1:c.-93C>A, XM_047447800.1:c.95C>A, XM_047447801.1:c.95C>A, XR_007095652.1:n.1553C>A, XM_047447811.1:c.95C>A, XM_047447812.1:c.95C>A, NP_001336206.1:p.Ser32Tyr, NP_001336207.1:p.Ser32Tyr, XP_024309186.1:p.Ser13Tyr, XP_024309187.1:p.Ser13Tyr, NP_001336213.1:p.Ser32Tyr, NP_001336214.1:p.Ser32Tyr, XP_047303758.1:p.Ser32Tyr, XP_047303759.1:p.Ser32Tyr, XP_047303756.1:p.Ser32Tyr, XP_047303757.1:p.Ser32Tyr, XP_047303767.1:p.Ser32Tyr, XP_047303768.1:p.Ser32Tyr

            6.

            rs1410563213 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:15795265 (GRCh38)
              3:15836772 (GRCh37)
              Canonical SPDI:
              NC_000003.12:15795264:T:C
              Gene:
              ANKRD28 (Varview)
              Functional Consequence:
              synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.15795265T>C, NC_000003.11:g.15836772T>C, XM_011533547.4:c.-29A>G, XM_011533547.3:c.-29A>G, XM_011533547.2:c.-29A>G, XM_011533547.1:c.-29A>G, NM_015199.4:c.69A>G, NM_015199.3:c.69A>G, NM_001349277.2:c.168A>G, NM_001349277.1:c.168A>G, NM_001349278.2:c.159A>G, NM_001349278.1:c.159A>G, NM_001349283.2:c.-394A>G, NM_001349283.1:c.-394A>G, NM_001349282.2:c.-29A>G, NM_001349282.1:c.-29A>G, NM_001349281.2:c.-29A>G, NM_001349281.1:c.-29A>G, XM_024453418.2:c.111A>G, XM_024453418.1:c.111A>G, XM_024453419.2:c.102A>G, XM_024453419.1:c.102A>G, NM_001349279.2:c.60A>G, NM_001349279.1:c.60A>G, XM_024453422.2:c.-29A>G, XM_024453422.1:c.-29A>G, XM_024453424.2:c.-29A>G, XM_024453424.1:c.-29A>G, NR_146112.2:n.1617A>G, NR_146112.1:n.1822A>G, NM_001349284.2:c.168A>G, NM_001349284.1:c.168A>G, NM_001349285.2:c.159A>G, NM_001349285.1:c.159A>G, XM_047447802.1:c.168A>G, XM_047447803.1:c.159A>G, XM_047447810.1:c.60A>G, XM_047447809.1:c.69A>G, NM_001195098.1:c.-394A>G, XM_047447804.1:c.-29A>G, XM_047447805.1:c.-29A>G, NM_001349280.1:c.-29A>G, XM_047447800.1:c.168A>G, XM_047447801.1:c.159A>G, XR_007095652.1:n.1626A>G, XM_047447808.1:c.60A>G, XM_047447806.1:c.69A>G, XR_007095653.1:n.480A>G, NR_146111.1:n.256A>G, XM_047447811.1:c.168A>G, XM_047447812.1:c.168A>G

              7.

              rs1403397959 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                3:15795276 (GRCh38)
                3:15836783 (GRCh37)
                Canonical SPDI:
                NC_000003.12:15795275:C:A
                Gene:
                ANKRD28 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.15795276C>A, NC_000003.11:g.15836783C>A, XM_011533547.4:c.-40G>T, XM_011533547.3:c.-40G>T, XM_011533547.2:c.-40G>T, XM_011533547.1:c.-40G>T, NM_015199.4:c.58G>T, NM_015199.3:c.58G>T, NM_001349277.2:c.157G>T, NM_001349277.1:c.157G>T, NM_001349278.2:c.148G>T, NM_001349278.1:c.148G>T, NM_001349283.2:c.-405G>T, NM_001349283.1:c.-405G>T, NM_001349282.2:c.-40G>T, NM_001349282.1:c.-40G>T, NM_001349281.2:c.-40G>T, NM_001349281.1:c.-40G>T, XM_024453418.2:c.100G>T, XM_024453418.1:c.100G>T, XM_024453419.2:c.91G>T, XM_024453419.1:c.91G>T, NM_001349279.2:c.49G>T, NM_001349279.1:c.49G>T, XM_024453422.2:c.-40G>T, XM_024453422.1:c.-40G>T, XM_024453424.2:c.-40G>T, XM_024453424.1:c.-40G>T, NR_146112.2:n.1606G>T, NR_146112.1:n.1811G>T, NM_001349284.2:c.157G>T, NM_001349284.1:c.157G>T, NM_001349285.2:c.148G>T, NM_001349285.1:c.148G>T, XM_047447802.1:c.157G>T, XM_047447803.1:c.148G>T, XM_047447810.1:c.49G>T, XM_047447809.1:c.58G>T, NM_001195098.1:c.-405G>T, XM_047447804.1:c.-40G>T, XM_047447805.1:c.-40G>T, NM_001349280.1:c.-40G>T, XM_047447800.1:c.157G>T, XM_047447801.1:c.148G>T, XR_007095652.1:n.1615G>T, XM_047447808.1:c.49G>T, XM_047447806.1:c.58G>T, XR_007095653.1:n.469G>T, NR_146111.1:n.245G>T, XM_047447811.1:c.157G>T, XM_047447812.1:c.157G>T, NP_056014.2:p.Asp20Tyr, NP_001336206.1:p.Asp53Tyr, NP_001336207.1:p.Asp50Tyr, XP_024309186.1:p.Asp34Tyr, XP_024309187.1:p.Asp31Tyr, NP_001336208.1:p.Asp17Tyr, NP_001336213.1:p.Asp53Tyr, NP_001336214.1:p.Asp50Tyr, XP_047303758.1:p.Asp53Tyr, XP_047303759.1:p.Asp50Tyr, XP_047303766.1:p.Asp17Tyr, XP_047303765.1:p.Asp20Tyr, XP_047303756.1:p.Asp53Tyr, XP_047303757.1:p.Asp50Tyr, XP_047303764.1:p.Asp17Tyr, XP_047303762.1:p.Asp20Tyr, XP_047303767.1:p.Asp53Tyr, XP_047303768.1:p.Asp53Tyr

                8.

                rs1389989787 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:15796416 (GRCh38)
                  3:15837923 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:15796415:C:T
                  Gene:
                  ANKRD28 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.15796416C>T, NC_000003.11:g.15837923C>T, NM_001349277.2:c.106G>A, NM_001349277.1:c.106G>A, NM_001349278.2:c.106G>A, NM_001349278.1:c.106G>A, NM_001349282.2:c.-91G>A, NM_001349282.1:c.-91G>A, NM_001349281.2:c.-82G>A, NM_001349281.1:c.-82G>A, XM_024453418.2:c.49G>A, XM_024453418.1:c.49G>A, XM_024453419.2:c.49G>A, XM_024453419.1:c.49G>A, NR_146112.2:n.1564G>A, NR_146112.1:n.1769G>A, NM_001349284.2:c.106G>A, NM_001349284.1:c.106G>A, NM_001349285.2:c.106G>A, NM_001349285.1:c.106G>A, XM_047447802.1:c.106G>A, XM_047447803.1:c.106G>A, XM_047447804.1:c.-91G>A, XM_047447805.1:c.-82G>A, XM_047447800.1:c.106G>A, XM_047447801.1:c.106G>A, XR_007095652.1:n.1564G>A, XM_047447811.1:c.106G>A, XM_047447812.1:c.106G>A, NP_001336206.1:p.Gly36Arg, NP_001336207.1:p.Gly36Arg, XP_024309186.1:p.Gly17Arg, XP_024309187.1:p.Gly17Arg, NP_001336213.1:p.Gly36Arg, NP_001336214.1:p.Gly36Arg, XP_047303758.1:p.Gly36Arg, XP_047303759.1:p.Gly36Arg, XP_047303756.1:p.Gly36Arg, XP_047303757.1:p.Gly36Arg, XP_047303767.1:p.Gly36Arg, XP_047303768.1:p.Gly36Arg

                  9.

                  rs1386213677 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    3:15796452 (GRCh38)
                    3:15837959 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:15796451:G:T
                    Gene:
                    ANKRD28 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (GnomAD)
                    T=0.000007/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1346166392 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:15796405 (GRCh38)
                      3:15837912 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:15796404:C:T
                      Gene:
                      ANKRD28 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1342695856 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GA>- [Show Flanks]
                        Chromosome:
                        3:15796475 (GRCh38)
                        3:15837982 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:15796472:GAGA:GA
                        Gene:
                        ANKRD28 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,frameshift_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GAGA=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1332997942 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:15796461 (GRCh38)
                          3:15837968 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:15796460:A:G
                          Gene:
                          ANKRD28 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                          HGVS:

                          13.

                          rs1324313095 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:15796455 (GRCh38)
                            3:15837962 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:15796454:A:G
                            Gene:
                            ANKRD28 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000007/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1290316643 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ATG>- [Show Flanks]
                              Chromosome:
                              3:15795303 (GRCh38)
                              3:15836810 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:15795300:TGATG:TG
                              Gene:
                              ANKRD28 (Varview)
                              Functional Consequence:
                              inframe_deletion,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000016/4 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.15795303_15795305del, NC_000003.11:g.15836810_15836812del, XM_011533547.4:c.-67_-65del, XM_011533547.3:c.-67_-65del, XM_011533547.2:c.-67_-65del, XM_011533547.1:c.-67_-65del, NM_015199.4:c.31_33del, NM_015199.3:c.31_33del, NM_001349277.2:c.130_132del, NM_001349277.1:c.130_132del, NM_001349278.2:c.121_123del, NM_001349278.1:c.121_123del, NM_001349283.2:c.-432_-430del, NM_001349283.1:c.-432_-430del, NM_001349282.2:c.-67_-65del, NM_001349282.1:c.-67_-65del, NM_001349281.2:c.-67_-65del, NM_001349281.1:c.-67_-65del, XM_024453418.2:c.73_75del, XM_024453418.1:c.73_75del, XM_024453419.2:c.64_66del, XM_024453419.1:c.64_66del, NM_001349279.2:c.22_24del, NM_001349279.1:c.22_24del, XM_024453422.2:c.-67_-65del, XM_024453422.1:c.-67_-65del, XM_024453424.2:c.-67_-65del, XM_024453424.1:c.-67_-65del, NR_146112.2:n.1579_1581del, NR_146112.1:n.1784_1786del, NM_001349284.2:c.130_132del, NM_001349284.1:c.130_132del, NM_001349285.2:c.121_123del, NM_001349285.1:c.121_123del, XM_047447802.1:c.130_132del, XM_047447803.1:c.121_123del, XM_047447810.1:c.22_24del, XM_047447809.1:c.31_33del, NM_001195098.1:c.-432_-430del, XM_047447804.1:c.-67_-65del, XM_047447805.1:c.-67_-65del, NM_001349280.1:c.-67_-65del, XM_047447800.1:c.130_132del, XM_047447801.1:c.121_123del, XR_007095652.1:n.1588_1590del, XM_047447808.1:c.22_24del, XM_047447806.1:c.31_33del, XR_007095653.1:n.442_444del, NR_146111.1:n.218_220del, XM_047447811.1:c.130_132del, XM_047447812.1:c.130_132del, NP_056014.2:p.Ser11del, NP_001336206.1:p.Ser44del, NP_001336207.1:p.Ser41del, XP_024309186.1:p.Ser25del, XP_024309187.1:p.Ser22del, NP_001336208.1:p.Ser8del, NP_001336213.1:p.Ser44del, NP_001336214.1:p.Ser41del, XP_047303758.1:p.Ser44del, XP_047303759.1:p.Ser41del, XP_047303766.1:p.Ser8del, XP_047303765.1:p.Ser11del, XP_047303756.1:p.Ser44del, XP_047303757.1:p.Ser41del, XP_047303764.1:p.Ser8del, XP_047303762.1:p.Ser11del, XP_047303767.1:p.Ser44del, XP_047303768.1:p.Ser44del

                              15.

                              rs1279060412 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:15795304 (GRCh38)
                                3:15836811 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:15795303:T:C
                                Gene:
                                ANKRD28 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_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)
                                C=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.15795304T>C, NC_000003.11:g.15836811T>C, XM_011533547.4:c.-68A>G, XM_011533547.3:c.-68A>G, XM_011533547.2:c.-68A>G, XM_011533547.1:c.-68A>G, NM_015199.4:c.30A>G, NM_015199.3:c.30A>G, NM_001349277.2:c.129A>G, NM_001349277.1:c.129A>G, NM_001349278.2:c.120A>G, NM_001349278.1:c.120A>G, NM_001349283.2:c.-433A>G, NM_001349283.1:c.-433A>G, NM_001349282.2:c.-68A>G, NM_001349282.1:c.-68A>G, NM_001349281.2:c.-68A>G, NM_001349281.1:c.-68A>G, XM_024453418.2:c.72A>G, XM_024453418.1:c.72A>G, XM_024453419.2:c.63A>G, XM_024453419.1:c.63A>G, NM_001349279.2:c.21A>G, NM_001349279.1:c.21A>G, XM_024453422.2:c.-68A>G, XM_024453422.1:c.-68A>G, XM_024453424.2:c.-68A>G, XM_024453424.1:c.-68A>G, NR_146112.2:n.1578A>G, NR_146112.1:n.1783A>G, NM_001349284.2:c.129A>G, NM_001349284.1:c.129A>G, NM_001349285.2:c.120A>G, NM_001349285.1:c.120A>G, XM_047447802.1:c.129A>G, XM_047447803.1:c.120A>G, XM_047447810.1:c.21A>G, XM_047447809.1:c.30A>G, NM_001195098.1:c.-433A>G, XM_047447804.1:c.-68A>G, XM_047447805.1:c.-68A>G, NM_001349280.1:c.-68A>G, XM_047447800.1:c.129A>G, XM_047447801.1:c.120A>G, XR_007095652.1:n.1587A>G, XM_047447808.1:c.21A>G, XM_047447806.1:c.30A>G, XR_007095653.1:n.441A>G, NR_146111.1:n.217A>G, XM_047447811.1:c.129A>G, XM_047447812.1:c.129A>G

                                16.

                                rs1268869574 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  3:15796492 (GRCh38)
                                  3:15837999 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:15796491:C:G,NC_000003.12:15796491:C:T
                                  Gene:
                                  ANKRD28 (Varview)
                                  Functional Consequence:
                                  missense_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD_exomes)
                                  T=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000003.12:g.15796492C>G, NC_000003.12:g.15796492C>T, NC_000003.11:g.15837999C>G, NC_000003.11:g.15837999C>T, NM_001349277.2:c.30G>C, NM_001349277.2:c.30G>A, NM_001349277.1:c.30G>C, NM_001349277.1:c.30G>A, NM_001349278.2:c.30G>C, NM_001349278.2:c.30G>A, NM_001349278.1:c.30G>C, NM_001349278.1:c.30G>A, NR_146112.2:n.1488G>C, NR_146112.2:n.1488G>A, NR_146112.1:n.1693G>C, NR_146112.1:n.1693G>A, NM_001349284.2:c.30G>C, NM_001349284.2:c.30G>A, NM_001349284.1:c.30G>C, NM_001349284.1:c.30G>A, NM_001349285.2:c.30G>C, NM_001349285.2:c.30G>A, NM_001349285.1:c.30G>C, NM_001349285.1:c.30G>A, XM_047447802.1:c.30G>C, XM_047447802.1:c.30G>A, XM_047447803.1:c.30G>C, XM_047447803.1:c.30G>A, XM_047447800.1:c.30G>C, XM_047447800.1:c.30G>A, XM_047447801.1:c.30G>C, XM_047447801.1:c.30G>A, XR_007095652.1:n.1488G>C, XR_007095652.1:n.1488G>A, XM_047447811.1:c.30G>C, XM_047447811.1:c.30G>A, XM_047447812.1:c.30G>C, XM_047447812.1:c.30G>A, NP_001336206.1:p.Glu10Asp, NP_001336207.1:p.Glu10Asp, NP_001336213.1:p.Glu10Asp, NP_001336214.1:p.Glu10Asp, XP_047303758.1:p.Glu10Asp, XP_047303759.1:p.Glu10Asp, XP_047303756.1:p.Glu10Asp, XP_047303757.1:p.Glu10Asp, XP_047303767.1:p.Glu10Asp, XP_047303768.1:p.Glu10Asp

                                  17.

                                  rs1255458205 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    3:15796449 (GRCh38)
                                    3:15837956 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:15796448:G:A,NC_000003.12:15796448:G:C
                                    Gene:
                                    ANKRD28 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,stop_gained,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    NC_000003.12:g.15796449G>A, NC_000003.12:g.15796449G>C, NC_000003.11:g.15837956G>A, NC_000003.11:g.15837956G>C, NM_001349277.2:c.73C>T, NM_001349277.2:c.73C>G, NM_001349277.1:c.73C>T, NM_001349277.1:c.73C>G, NM_001349278.2:c.73C>T, NM_001349278.2:c.73C>G, NM_001349278.1:c.73C>T, NM_001349278.1:c.73C>G, NR_146112.2:n.1531C>T, NR_146112.2:n.1531C>G, NR_146112.1:n.1736C>T, NR_146112.1:n.1736C>G, NM_001349284.2:c.73C>T, NM_001349284.2:c.73C>G, NM_001349284.1:c.73C>T, NM_001349284.1:c.73C>G, NM_001349285.2:c.73C>T, NM_001349285.2:c.73C>G, NM_001349285.1:c.73C>T, NM_001349285.1:c.73C>G, XM_047447802.1:c.73C>T, XM_047447802.1:c.73C>G, XM_047447803.1:c.73C>T, XM_047447803.1:c.73C>G, XM_047447800.1:c.73C>T, XM_047447800.1:c.73C>G, XM_047447801.1:c.73C>T, XM_047447801.1:c.73C>G, XR_007095652.1:n.1531C>T, XR_007095652.1:n.1531C>G, XM_047447811.1:c.73C>T, XM_047447811.1:c.73C>G, XM_047447812.1:c.73C>T, XM_047447812.1:c.73C>G, NP_001336206.1:p.Gln25Ter, NP_001336206.1:p.Gln25Glu, NP_001336207.1:p.Gln25Ter, NP_001336207.1:p.Gln25Glu, NP_001336213.1:p.Gln25Ter, NP_001336213.1:p.Gln25Glu, NP_001336214.1:p.Gln25Ter, NP_001336214.1:p.Gln25Glu, XP_047303758.1:p.Gln25Ter, XP_047303758.1:p.Gln25Glu, XP_047303759.1:p.Gln25Ter, XP_047303759.1:p.Gln25Glu, XP_047303756.1:p.Gln25Ter, XP_047303756.1:p.Gln25Glu, XP_047303757.1:p.Gln25Ter, XP_047303757.1:p.Gln25Glu, XP_047303767.1:p.Gln25Ter, XP_047303767.1:p.Gln25Glu, XP_047303768.1:p.Gln25Ter, XP_047303768.1:p.Gln25Glu

                                    18.

                                    rs1245430213 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:15796441 (GRCh38)
                                      3:15837948 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:15796440:A:G
                                      Gene:
                                      ANKRD28 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1230508604 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:15796477 (GRCh38)
                                        3:15837984 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:15796476:T:C
                                        Gene:
                                        ANKRD28 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        C=0.000022/3 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1209873775 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:15796490 (GRCh38)
                                          3:15837997 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:15796489:T:C
                                          Gene:
                                          ANKRD28 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000007/1 (GnomAD_exomes)
                                          HGVS:

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