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Items: 1 to 20 of 993

1.

rs1490326756 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    1:149059068 (GRCh38)
    1:-1 (GRCh37)
    Canonical SPDI:
    NC_000001.11:149059067:T:A,NC_000001.11:149059067:T:C
    Gene:
    NBPF9 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.00004/1 (TOMMO)
    C=0.00004/3 (GnomAD)
    HGVS:
    NC_000001.11:g.149059068T>A, NC_000001.11:g.149059068T>C, NW_003871055.3:g.5874481T>A, NW_003871055.3:g.5874481T>C, NM_001277444.2:c.2615A>T, NM_001277444.2:c.2615A>G, NM_001277444.1:c.2615A>T, NM_001277444.1:c.2615A>G, XM_047420572.1:c.2615A>T, XM_047420572.1:c.2615A>G, NM_001388368.1:c.2615A>T, NM_001388368.1:c.2615A>G, NM_001388370.1:c.2615A>T, NM_001388370.1:c.2615A>G, NM_001388366.1:c.2615A>T, NM_001388366.1:c.2615A>G, NM_001388369.1:c.2615A>T, NM_001388369.1:c.2615A>G, NM_001388371.1:c.2504A>T, NM_001388371.1:c.2504A>G, NM_001388367.1:c.2615A>T, NM_001388367.1:c.2615A>G, NP_001264373.1:p.Glu872Val, NP_001264373.1:p.Glu872Gly, XP_047276528.1:p.Glu872Val, XP_047276528.1:p.Glu872Gly, NP_001375297.1:p.Glu872Val, NP_001375297.1:p.Glu872Gly, NP_001375299.1:p.Glu872Val, NP_001375299.1:p.Glu872Gly, NP_001375295.1:p.Glu872Val, NP_001375295.1:p.Glu872Gly, NP_001375298.1:p.Glu872Val, NP_001375298.1:p.Glu872Gly, NP_001375300.1:p.Glu835Val, NP_001375300.1:p.Glu835Gly, NP_001375296.1:p.Glu872Val, NP_001375296.1:p.Glu872Gly

    2.

    rs1490019203 has merged into rs781902719 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,G [Show Flanks]
      Chromosome:
      1:149063778 (GRCh38)
      1:144823840 (GRCh37)
      Canonical SPDI:
      NC_000001.11:149063777:T:A,NC_000001.11:149063777:T:G
      Gene:
      NBPF9 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      C=0./0 (ExAC)
      G=0./0 (GnomAD)
      C=0.000016/1 (GnomAD_exomes)
      G=0.000026/7 (TOPMED)
      G=0.000156/1 (1000Genomes)
      G=0.000319/5 (TOMMO)
      HGVS:
      NC_000001.11:g.149063778T>A, NC_000001.11:g.149063778T>G, NW_003871055.3:g.5879191T>A, NW_003871055.3:g.5879191T>G, NC_000001.10:g.144823840A>T, NC_000001.10:g.144823840A>C, NM_001037675.4:c.1881A>T, NM_001037675.4:c.1881A>C, NM_001037675.3:c.1881A>T, NM_001037675.3:c.1881A>C, NM_001277444.2:c.1881A>T, NM_001277444.2:c.1881A>C, NM_001277444.1:c.1881A>T, NM_001277444.1:c.1881A>C, XM_047420572.1:c.1881A>T, XM_047420572.1:c.1881A>C, NM_001388368.1:c.1881A>T, NM_001388368.1:c.1881A>C, NM_001388370.1:c.1881A>T, NM_001388370.1:c.1881A>C, NM_001388366.1:c.1881A>T, NM_001388366.1:c.1881A>C, NM_001388369.1:c.1881A>T, NM_001388369.1:c.1881A>C, NM_001388371.1:c.1770A>T, NM_001388371.1:c.1770A>C, NM_001388367.1:c.1881A>T, NM_001388367.1:c.1881A>C, NM_001388376.1:c.1881A>T, NM_001388376.1:c.1881A>C, NM_001388373.1:c.1881A>T, NM_001388373.1:c.1881A>C, NM_001388379.1:c.1881A>T, NM_001388379.1:c.1881A>C, NM_001388381.1:c.1881A>T, NM_001388381.1:c.1881A>C, NM_001388378.1:c.1881A>T, NM_001388378.1:c.1881A>C, NM_001388375.1:c.1881A>T, NM_001388375.1:c.1881A>C, NM_001388372.1:c.1881A>T, NM_001388372.1:c.1881A>C, NM_001388377.1:c.1881A>T, NM_001388377.1:c.1881A>C, NM_001388384.1:c.1881A>T, NM_001388384.1:c.1881A>C, NM_001388374.1:c.1881A>T, NM_001388374.1:c.1881A>C, NM_001388382.1:c.1881A>T, NM_001388382.1:c.1881A>C, NM_001388383.1:c.1881A>T, NM_001388383.1:c.1881A>C, NP_001032764.2:p.Lys627Asn, NP_001032764.2:p.Lys627Asn, NP_001264373.1:p.Lys627Asn, NP_001264373.1:p.Lys627Asn, XP_047276528.1:p.Lys627Asn, XP_047276528.1:p.Lys627Asn, NP_001375297.1:p.Lys627Asn, NP_001375297.1:p.Lys627Asn, NP_001375299.1:p.Lys627Asn, NP_001375299.1:p.Lys627Asn, NP_001375295.1:p.Lys627Asn, NP_001375295.1:p.Lys627Asn, NP_001375298.1:p.Lys627Asn, NP_001375298.1:p.Lys627Asn, NP_001375300.1:p.Lys590Asn, NP_001375300.1:p.Lys590Asn, NP_001375296.1:p.Lys627Asn, NP_001375296.1:p.Lys627Asn, NP_001375305.1:p.Lys627Asn, NP_001375305.1:p.Lys627Asn, NP_001375302.1:p.Lys627Asn, NP_001375302.1:p.Lys627Asn, NP_001375308.1:p.Lys627Asn, NP_001375308.1:p.Lys627Asn, NP_001375310.1:p.Lys627Asn, NP_001375310.1:p.Lys627Asn, NP_001375307.1:p.Lys627Asn, NP_001375307.1:p.Lys627Asn, NP_001375304.1:p.Lys627Asn, NP_001375304.1:p.Lys627Asn, NP_001375301.1:p.Lys627Asn, NP_001375301.1:p.Lys627Asn, NP_001375306.1:p.Lys627Asn, NP_001375306.1:p.Lys627Asn, NP_001375313.1:p.Lys627Asn, NP_001375313.1:p.Lys627Asn, NP_001375303.1:p.Lys627Asn, NP_001375303.1:p.Lys627Asn, NP_001375311.1:p.Lys627Asn, NP_001375311.1:p.Lys627Asn, NP_001375312.1:p.Lys627Asn, NP_001375312.1:p.Lys627Asn

      3.

      rs1489725015 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:149060665 (GRCh38)
        1:-1 (GRCh37)
        Canonical SPDI:
        NC_000001.11:149060664:C:T
        Gene:
        NBPF9 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000019/1 (GnomAD)
        HGVS:

        4.

        rs1488234611 has merged into rs587681687 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:149075668 (GRCh38)
          1:144811944 (GRCh37)
          Canonical SPDI:
          NC_000001.11:149075667:C:T
          Gene:
          NBPF9 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000429/7 (ALFA)
          A=0.000145/36 (GnomAD_exomes)
          A=0.000204/24 (ExAC)
          T=0.000464/65 (GnomAD)
          A=0.000799/4 (1000Genomes)
          A=0.003765/11 (KOREAN)
          G=0.5/1 (SGDP_PRJ)
          HGVS:

          5.

          rs1487777078 has merged into rs782040946 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            1:149071044 (GRCh38)
            1:144816568 (GRCh37)
            Canonical SPDI:
            NC_000001.11:149071043:T:C,NC_000001.11:149071043:T:G
            Gene:
            NBPF9 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            G=0.000028/7 (GnomAD_exomes)
            C=0.000036/5 (GnomAD)
            G=0.000041/5 (ExAC)
            C=0.000053/14 (TOPMED)
            G=0.004929/9 (Korea1K)
            HGVS:
            NC_000001.11:g.149071044T>C, NC_000001.11:g.149071044T>G, NW_003871055.3:g.5886457T>C, NW_003871055.3:g.5886457T>G, NC_000001.10:g.144816568A>G, NC_000001.10:g.144816568A>C, NM_001037675.4:c.1475A>G, NM_001037675.4:c.1475A>C, NM_001037675.3:c.1475A>G, NM_001037675.3:c.1475A>C, NM_001277444.2:c.1475A>G, NM_001277444.2:c.1475A>C, NM_001277444.1:c.1475A>G, NM_001277444.1:c.1475A>C, NM_001388368.1:c.1475A>G, NM_001388368.1:c.1475A>C, NM_001388370.1:c.1475A>G, NM_001388370.1:c.1475A>C, NM_001388366.1:c.1475A>G, NM_001388366.1:c.1475A>C, NM_001388369.1:c.1475A>G, NM_001388369.1:c.1475A>C, NM_001388371.1:c.1475A>G, NM_001388371.1:c.1475A>C, NM_001388367.1:c.1475A>G, NM_001388367.1:c.1475A>C, NM_001388376.1:c.1475A>G, NM_001388376.1:c.1475A>C, NM_001388378.1:c.1475A>G, NM_001388378.1:c.1475A>C, NM_001388375.1:c.1475A>G, NM_001388375.1:c.1475A>C, NM_001388372.1:c.1475A>G, NM_001388372.1:c.1475A>C, NM_001388377.1:c.1475A>G, NM_001388377.1:c.1475A>C, NM_001388384.1:c.1475A>G, NM_001388384.1:c.1475A>C, NM_001388383.1:c.1475A>G, NM_001388383.1:c.1475A>C, XR_007060075.1:n.5454A>G, XR_007060075.1:n.5454A>C, XM_047420578.1:c.1475A>G, XM_047420578.1:c.1475A>C, NM_001388382.1:c.1475A>G, NM_001388382.1:c.1475A>C, NM_001388381.1:c.1475A>G, NM_001388381.1:c.1475A>C, NM_001388374.1:c.1475A>G, NM_001388374.1:c.1475A>C, NM_001388373.1:c.1475A>G, NM_001388373.1:c.1475A>C, NM_001388379.1:c.1475A>G, NM_001388379.1:c.1475A>C, XM_047420572.1:c.1475A>G, XM_047420572.1:c.1475A>C, NP_001032764.2:p.Asn492Ser, NP_001032764.2:p.Asn492Thr, NP_001264373.1:p.Asn492Ser, NP_001264373.1:p.Asn492Thr, NP_001375297.1:p.Asn492Ser, NP_001375297.1:p.Asn492Thr, NP_001375299.1:p.Asn492Ser, NP_001375299.1:p.Asn492Thr, NP_001375295.1:p.Asn492Ser, NP_001375295.1:p.Asn492Thr, NP_001375298.1:p.Asn492Ser, NP_001375298.1:p.Asn492Thr, NP_001375300.1:p.Asn492Ser, NP_001375300.1:p.Asn492Thr, NP_001375296.1:p.Asn492Ser, NP_001375296.1:p.Asn492Thr, NP_001375305.1:p.Asn492Ser, NP_001375305.1:p.Asn492Thr, NP_001375307.1:p.Asn492Ser, NP_001375307.1:p.Asn492Thr, NP_001375304.1:p.Asn492Ser, NP_001375304.1:p.Asn492Thr, NP_001375301.1:p.Asn492Ser, NP_001375301.1:p.Asn492Thr, NP_001375306.1:p.Asn492Ser, NP_001375306.1:p.Asn492Thr, NP_001375313.1:p.Asn492Ser, NP_001375313.1:p.Asn492Thr, NP_001375312.1:p.Asn492Ser, NP_001375312.1:p.Asn492Thr, XP_047276534.1:p.Asn492Ser, XP_047276534.1:p.Asn492Thr, NP_001375311.1:p.Asn492Ser, NP_001375311.1:p.Asn492Thr, NP_001375310.1:p.Asn492Ser, NP_001375310.1:p.Asn492Thr, NP_001375303.1:p.Asn492Ser, NP_001375303.1:p.Asn492Thr, NP_001375302.1:p.Asn492Ser, NP_001375302.1:p.Asn492Thr, NP_001375308.1:p.Asn492Ser, NP_001375308.1:p.Asn492Thr, XP_047276528.1:p.Asn492Ser, XP_047276528.1:p.Asn492Thr

            6.

            rs1486635962 has merged into rs782742555 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G,T [Show Flanks]
              Chromosome:
              1:149070981 (GRCh38)
              1:144816631 (GRCh37)
              Canonical SPDI:
              NC_000001.11:149070980:C:A,NC_000001.11:149070980:C:G,NC_000001.11:149070980:C:T
              Gene:
              NBPF9 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.00167/1 (NorthernSweden)
              HGVS:
              NC_000001.11:g.149070981C>A, NC_000001.11:g.149070981C>G, NC_000001.11:g.149070981C>T, NW_003871055.3:g.5886394C>A, NW_003871055.3:g.5886394C>G, NW_003871055.3:g.5886394C>T, NC_000001.10:g.144816631G>T, NC_000001.10:g.144816631G>C, NC_000001.10:g.144816631G>A, NM_001037675.4:c.1538G>T, NM_001037675.4:c.1538G>C, NM_001037675.4:c.1538G>A, NM_001037675.3:c.1538G>T, NM_001037675.3:c.1538G>C, NM_001037675.3:c.1538G>A, NM_001277444.2:c.1538G>T, NM_001277444.2:c.1538G>C, NM_001277444.2:c.1538G>A, NM_001277444.1:c.1538G>T, NM_001277444.1:c.1538G>C, NM_001277444.1:c.1538G>A, NM_001388368.1:c.1538G>T, NM_001388368.1:c.1538G>C, NM_001388368.1:c.1538G>A, NM_001388370.1:c.1538G>T, NM_001388370.1:c.1538G>C, NM_001388370.1:c.1538G>A, NM_001388366.1:c.1538G>T, NM_001388366.1:c.1538G>C, NM_001388366.1:c.1538G>A, NM_001388369.1:c.1538G>T, NM_001388369.1:c.1538G>C, NM_001388369.1:c.1538G>A, NM_001388371.1:c.1538G>T, NM_001388371.1:c.1538G>C, NM_001388371.1:c.1538G>A, NM_001388367.1:c.1538G>T, NM_001388367.1:c.1538G>C, NM_001388367.1:c.1538G>A, NM_001388376.1:c.1538G>T, NM_001388376.1:c.1538G>C, NM_001388376.1:c.1538G>A, NM_001388378.1:c.1538G>T, NM_001388378.1:c.1538G>C, NM_001388378.1:c.1538G>A, NM_001388375.1:c.1538G>T, NM_001388375.1:c.1538G>C, NM_001388375.1:c.1538G>A, NM_001388372.1:c.1538G>T, NM_001388372.1:c.1538G>C, NM_001388372.1:c.1538G>A, NM_001388377.1:c.1538G>T, NM_001388377.1:c.1538G>C, NM_001388377.1:c.1538G>A, NM_001388384.1:c.1538G>T, NM_001388384.1:c.1538G>C, NM_001388384.1:c.1538G>A, NM_001388383.1:c.1538G>T, NM_001388383.1:c.1538G>C, NM_001388383.1:c.1538G>A, XR_007060075.1:n.5517G>T, XR_007060075.1:n.5517G>C, XR_007060075.1:n.5517G>A, XM_047420578.1:c.1538G>T, XM_047420578.1:c.1538G>C, XM_047420578.1:c.1538G>A, NM_001388382.1:c.1538G>T, NM_001388382.1:c.1538G>C, NM_001388382.1:c.1538G>A, NM_001388381.1:c.1538G>T, NM_001388381.1:c.1538G>C, NM_001388381.1:c.1538G>A, NM_001388374.1:c.1538G>T, NM_001388374.1:c.1538G>C, NM_001388374.1:c.1538G>A, NM_001388373.1:c.1538G>T, NM_001388373.1:c.1538G>C, NM_001388373.1:c.1538G>A, NM_001388379.1:c.1538G>T, NM_001388379.1:c.1538G>C, NM_001388379.1:c.1538G>A, XM_047420572.1:c.1538G>T, XM_047420572.1:c.1538G>C, XM_047420572.1:c.1538G>A, NP_001032764.2:p.Gly513Val, NP_001032764.2:p.Gly513Ala, NP_001032764.2:p.Gly513Asp, NP_001264373.1:p.Gly513Val, NP_001264373.1:p.Gly513Ala, NP_001264373.1:p.Gly513Asp, NP_001375297.1:p.Gly513Val, NP_001375297.1:p.Gly513Ala, NP_001375297.1:p.Gly513Asp, NP_001375299.1:p.Gly513Val, NP_001375299.1:p.Gly513Ala, NP_001375299.1:p.Gly513Asp, NP_001375295.1:p.Gly513Val, NP_001375295.1:p.Gly513Ala, NP_001375295.1:p.Gly513Asp, NP_001375298.1:p.Gly513Val, NP_001375298.1:p.Gly513Ala, NP_001375298.1:p.Gly513Asp, NP_001375300.1:p.Gly513Val, NP_001375300.1:p.Gly513Ala, NP_001375300.1:p.Gly513Asp, NP_001375296.1:p.Gly513Val, NP_001375296.1:p.Gly513Ala, NP_001375296.1:p.Gly513Asp, NP_001375305.1:p.Gly513Val, NP_001375305.1:p.Gly513Ala, NP_001375305.1:p.Gly513Asp, NP_001375307.1:p.Gly513Val, NP_001375307.1:p.Gly513Ala, NP_001375307.1:p.Gly513Asp, NP_001375304.1:p.Gly513Val, NP_001375304.1:p.Gly513Ala, NP_001375304.1:p.Gly513Asp, NP_001375301.1:p.Gly513Val, NP_001375301.1:p.Gly513Ala, NP_001375301.1:p.Gly513Asp, NP_001375306.1:p.Gly513Val, NP_001375306.1:p.Gly513Ala, NP_001375306.1:p.Gly513Asp, NP_001375313.1:p.Gly513Val, NP_001375313.1:p.Gly513Ala, NP_001375313.1:p.Gly513Asp, NP_001375312.1:p.Gly513Val, NP_001375312.1:p.Gly513Ala, NP_001375312.1:p.Gly513Asp, XP_047276534.1:p.Gly513Val, XP_047276534.1:p.Gly513Ala, XP_047276534.1:p.Gly513Asp, NP_001375311.1:p.Gly513Val, NP_001375311.1:p.Gly513Ala, NP_001375311.1:p.Gly513Asp, NP_001375310.1:p.Gly513Val, NP_001375310.1:p.Gly513Ala, NP_001375310.1:p.Gly513Asp, NP_001375303.1:p.Gly513Val, NP_001375303.1:p.Gly513Ala, NP_001375303.1:p.Gly513Asp, NP_001375302.1:p.Gly513Val, NP_001375302.1:p.Gly513Ala, NP_001375302.1:p.Gly513Asp, NP_001375308.1:p.Gly513Val, NP_001375308.1:p.Gly513Ala, NP_001375308.1:p.Gly513Asp, XP_047276528.1:p.Gly513Val, XP_047276528.1:p.Gly513Ala, XP_047276528.1:p.Gly513Asp

              7.

              rs1486462285 has merged into rs782810431 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                1:149062177 (GRCh38)
                1:144825441 (GRCh37)
                Canonical SPDI:
                NC_000001.11:149062176:C:A,NC_000001.11:149062176:C:G,NC_000001.11:149062176:C:T
                Gene:
                NBPF9 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,stop_gained,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000017/2 (ExAC)
                G=0.000029/4 (GnomAD)
                G=0.000038/10 (TOPMED)
                C=0.00006/1 (TOMMO)
                HGVS:
                NC_000001.11:g.149062177C>A, NC_000001.11:g.149062177C>G, NC_000001.11:g.149062177C>T, NW_003871055.3:g.5877590C>A, NW_003871055.3:g.5877590C>G, NW_003871055.3:g.5877590C>T, NC_000001.10:g.144825441G>T, NC_000001.10:g.144825441G>C, NC_000001.10:g.144825441G>A, NM_001037675.4:c.2167G>T, NM_001037675.4:c.2167G>C, NM_001037675.4:c.2167G>A, NM_001037675.3:c.2167G>T, NM_001037675.3:c.2167G>C, NM_001037675.3:c.2167G>A, NM_001277444.2:c.2167G>T, NM_001277444.2:c.2167G>C, NM_001277444.2:c.2167G>A, NM_001277444.1:c.2167G>T, NM_001277444.1:c.2167G>C, NM_001277444.1:c.2167G>A, XM_047420572.1:c.2167G>T, XM_047420572.1:c.2167G>C, XM_047420572.1:c.2167G>A, NM_001388368.1:c.2167G>T, NM_001388368.1:c.2167G>C, NM_001388368.1:c.2167G>A, NM_001388370.1:c.2167G>T, NM_001388370.1:c.2167G>C, NM_001388370.1:c.2167G>A, NM_001388366.1:c.2167G>T, NM_001388366.1:c.2167G>C, NM_001388366.1:c.2167G>A, NM_001388369.1:c.2167G>T, NM_001388369.1:c.2167G>C, NM_001388369.1:c.2167G>A, NM_001388371.1:c.2056G>T, NM_001388371.1:c.2056G>C, NM_001388371.1:c.2056G>A, NM_001388367.1:c.2167G>T, NM_001388367.1:c.2167G>C, NM_001388367.1:c.2167G>A, NM_001388376.1:c.2167G>T, NM_001388376.1:c.2167G>C, NM_001388376.1:c.2167G>A, NM_001388373.1:c.2167G>T, NM_001388373.1:c.2167G>C, NM_001388373.1:c.2167G>A, NM_001388379.1:c.2167G>T, NM_001388379.1:c.2167G>C, NM_001388379.1:c.2167G>A, NM_001388381.1:c.2167G>T, NM_001388381.1:c.2167G>C, NM_001388381.1:c.2167G>A, NM_001388378.1:c.2167G>T, NM_001388378.1:c.2167G>C, NM_001388378.1:c.2167G>A, NM_001388375.1:c.2167G>T, NM_001388375.1:c.2167G>C, NM_001388375.1:c.2167G>A, NM_001388372.1:c.2167G>T, NM_001388372.1:c.2167G>C, NM_001388372.1:c.2167G>A, NM_001388377.1:c.2167G>T, NM_001388377.1:c.2167G>C, NM_001388377.1:c.2167G>A, NM_001388384.1:c.2167G>T, NM_001388384.1:c.2167G>C, NM_001388384.1:c.2167G>A, NM_001388374.1:c.2167G>T, NM_001388374.1:c.2167G>C, NM_001388374.1:c.2167G>A, NM_001388382.1:c.2167G>T, NM_001388382.1:c.2167G>C, NM_001388382.1:c.2167G>A, NM_001388383.1:c.2167G>T, NM_001388383.1:c.2167G>C, NM_001388383.1:c.2167G>A, NP_001032764.2:p.Glu723Ter, NP_001032764.2:p.Glu723Gln, NP_001032764.2:p.Glu723Lys, NP_001264373.1:p.Glu723Ter, NP_001264373.1:p.Glu723Gln, NP_001264373.1:p.Glu723Lys, XP_047276528.1:p.Glu723Ter, XP_047276528.1:p.Glu723Gln, XP_047276528.1:p.Glu723Lys, NP_001375297.1:p.Glu723Ter, NP_001375297.1:p.Glu723Gln, NP_001375297.1:p.Glu723Lys, NP_001375299.1:p.Glu723Ter, NP_001375299.1:p.Glu723Gln, NP_001375299.1:p.Glu723Lys, NP_001375295.1:p.Glu723Ter, NP_001375295.1:p.Glu723Gln, NP_001375295.1:p.Glu723Lys, NP_001375298.1:p.Glu723Ter, NP_001375298.1:p.Glu723Gln, NP_001375298.1:p.Glu723Lys, NP_001375300.1:p.Glu686Ter, NP_001375300.1:p.Glu686Gln, NP_001375300.1:p.Glu686Lys, NP_001375296.1:p.Glu723Ter, NP_001375296.1:p.Glu723Gln, NP_001375296.1:p.Glu723Lys, NP_001375305.1:p.Glu723Ter, NP_001375305.1:p.Glu723Gln, NP_001375305.1:p.Glu723Lys, NP_001375302.1:p.Glu723Ter, NP_001375302.1:p.Glu723Gln, NP_001375302.1:p.Glu723Lys, NP_001375308.1:p.Glu723Ter, NP_001375308.1:p.Glu723Gln, NP_001375308.1:p.Glu723Lys, NP_001375310.1:p.Glu723Ter, NP_001375310.1:p.Glu723Gln, NP_001375310.1:p.Glu723Lys, NP_001375307.1:p.Glu723Ter, NP_001375307.1:p.Glu723Gln, NP_001375307.1:p.Glu723Lys, NP_001375304.1:p.Glu723Ter, NP_001375304.1:p.Glu723Gln, NP_001375304.1:p.Glu723Lys, NP_001375301.1:p.Glu723Ter, NP_001375301.1:p.Glu723Gln, NP_001375301.1:p.Glu723Lys, NP_001375306.1:p.Glu723Ter, NP_001375306.1:p.Glu723Gln, NP_001375306.1:p.Glu723Lys, NP_001375313.1:p.Glu723Ter, NP_001375313.1:p.Glu723Gln, NP_001375313.1:p.Glu723Lys, NP_001375303.1:p.Glu723Ter, NP_001375303.1:p.Glu723Gln, NP_001375303.1:p.Glu723Lys, NP_001375311.1:p.Glu723Ter, NP_001375311.1:p.Glu723Gln, NP_001375311.1:p.Glu723Lys, NP_001375312.1:p.Glu723Ter, NP_001375312.1:p.Glu723Gln, NP_001375312.1:p.Glu723Lys

                8.

                rs1486115270 has merged into rs782075915 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:149079077 (GRCh38)
                  1:144618226 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:149079076:C:T
                  Gene:
                  NBPF9 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.00454/115 (ALFA)
                  T=0.00984/278 (TOMMO)
                  T=0.01843/118 (1000Genomes)
                  HGVS:
                  NC_000001.11:g.149079077C>T, NW_003871055.3:g.5894490C>T, NC_000001.10:g.144618226G>A, NW_025791753.1:g.56952G>A, NM_001037501.5:c.423G>A, NM_001037501.4:c.423G>A, NM_001037501.3:c.423G>A, NM_001037501.2:c.423G>A, NM_001037675.4:c.423G>A, NM_001037675.3:c.423G>A, NR_102404.3:n.1663G>A, NR_102404.2:n.1663G>A, NR_102404.1:n.595G>A, NR_102405.3:n.1403G>A, NR_102405.2:n.1403G>A, NR_102405.1:n.492G>A, NM_001277444.2:c.423G>A, NM_001277444.1:c.423G>A, NM_001388367.1:c.423G>A, NM_001388376.1:c.423G>A, NM_001388366.1:c.423G>A, NM_001388373.1:c.423G>A, NM_001388379.1:c.423G>A, NM_001388381.1:c.423G>A, NM_001388378.1:c.423G>A, NM_001388372.1:c.423G>A, NM_001388384.1:c.423G>A, NM_001388374.1:c.423G>A, NM_001388382.1:c.423G>A, NM_001388383.1:c.423G>A, XR_007060075.1:n.4402G>A, XM_047420578.1:c.423G>A, NM_001388377.1:c.423G>A, NM_001388368.1:c.423G>A, NM_001388369.1:c.423G>A, XM_047420572.1:c.423G>A, NM_001388371.1:c.423G>A, NM_001388375.1:c.423G>A, NM_001388370.1:c.423G>A

                  9.

                  rs1485752275 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:149063724 (GRCh38)
                    1:144823894 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:149063723:A:G
                    Gene:
                    NBPF9 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.00016/1 (1000Genomes)
                    HGVS:

                    10.

                    rs1485031682 has merged into rs782051658 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      1:149065556 (GRCh38)
                      1:144822054 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:149065555:G:A,NC_000001.11:149065555:G:C
                      Gene:
                      NBPF9 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,stop_gained,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00005/1 (ALFA)
                      C=0.00014/10 (ExAC)
                      C=0.00034/1 (KOREAN)
                      HGVS:
                      NC_000001.11:g.149065556G>A, NC_000001.11:g.149065556G>C, NW_003871055.3:g.5880969G>A, NW_003871055.3:g.5880969G>C, NC_000001.10:g.144822054C>T, NC_000001.10:g.144822054C>G, NM_001037675.4:c.1771C>T, NM_001037675.4:c.1771C>G, NM_001037675.3:c.1771C>T, NM_001037675.3:c.1771C>G, NM_001277444.2:c.1771C>T, NM_001277444.2:c.1771C>G, NM_001277444.1:c.1771C>T, NM_001277444.1:c.1771C>G, XM_047420572.1:c.1771C>T, XM_047420572.1:c.1771C>G, NM_001388368.1:c.1771C>T, NM_001388368.1:c.1771C>G, NM_001388370.1:c.1771C>T, NM_001388370.1:c.1771C>G, NM_001388366.1:c.1771C>T, NM_001388366.1:c.1771C>G, NM_001388369.1:c.1771C>T, NM_001388369.1:c.1771C>G, NM_001388367.1:c.1771C>T, NM_001388367.1:c.1771C>G, NM_001388378.1:c.1771C>T, NM_001388378.1:c.1771C>G, NM_001388375.1:c.1771C>T, NM_001388375.1:c.1771C>G, NM_001388372.1:c.1771C>T, NM_001388372.1:c.1771C>G, NM_001388377.1:c.1771C>T, NM_001388377.1:c.1771C>G, NM_001388384.1:c.1771C>T, NM_001388384.1:c.1771C>G, NM_001388382.1:c.1771C>T, NM_001388382.1:c.1771C>G, NM_001388383.1:c.1771C>T, NM_001388383.1:c.1771C>G, NM_001388379.1:c.1771C>T, NM_001388379.1:c.1771C>G, NM_001388374.1:c.1771C>T, NM_001388374.1:c.1771C>G, NM_001388381.1:c.1771C>T, NM_001388381.1:c.1771C>G, NM_001388373.1:c.1771C>T, NM_001388373.1:c.1771C>G, NM_001388376.1:c.1771C>T, NM_001388376.1:c.1771C>G, NP_001032764.2:p.Gln591Ter, NP_001032764.2:p.Gln591Glu, NP_001264373.1:p.Gln591Ter, NP_001264373.1:p.Gln591Glu, XP_047276528.1:p.Gln591Ter, XP_047276528.1:p.Gln591Glu, NP_001375297.1:p.Gln591Ter, NP_001375297.1:p.Gln591Glu, NP_001375299.1:p.Gln591Ter, NP_001375299.1:p.Gln591Glu, NP_001375295.1:p.Gln591Ter, NP_001375295.1:p.Gln591Glu, NP_001375298.1:p.Gln591Ter, NP_001375298.1:p.Gln591Glu, NP_001375296.1:p.Gln591Ter, NP_001375296.1:p.Gln591Glu, NP_001375307.1:p.Gln591Ter, NP_001375307.1:p.Gln591Glu, NP_001375304.1:p.Gln591Ter, NP_001375304.1:p.Gln591Glu, NP_001375301.1:p.Gln591Ter, NP_001375301.1:p.Gln591Glu, NP_001375306.1:p.Gln591Ter, NP_001375306.1:p.Gln591Glu, NP_001375313.1:p.Gln591Ter, NP_001375313.1:p.Gln591Glu, NP_001375311.1:p.Gln591Ter, NP_001375311.1:p.Gln591Glu, NP_001375312.1:p.Gln591Ter, NP_001375312.1:p.Gln591Glu, NP_001375308.1:p.Gln591Ter, NP_001375308.1:p.Gln591Glu, NP_001375303.1:p.Gln591Ter, NP_001375303.1:p.Gln591Glu, NP_001375310.1:p.Gln591Ter, NP_001375310.1:p.Gln591Glu, NP_001375302.1:p.Gln591Ter, NP_001375302.1:p.Gln591Glu, NP_001375305.1:p.Gln591Ter, NP_001375305.1:p.Gln591Glu

                      11.

                      rs1483079100 has merged into rs373006661 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:149080142 (GRCh38)
                        1:144617163 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:149080141:A:G
                        Gene:
                        NBPF9 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.022573/479 (ALFA)
                        G=0.046163/6435 (GnomAD)
                        G=0.122111/782 (1000Genomes)
                        G=0.385759/10900 (TOMMO)
                        HGVS:
                        NC_000001.11:g.149080142A>G, NW_003871055.3:g.5895555A>G, NC_000001.10:g.144617163T>C, NW_025791753.1:g.55889T>C, NM_001037501.5:c.189T>C, NM_001037501.4:c.189T>C, NM_001037501.3:c.189T>C, NM_001037501.2:c.189T>C, NM_001037675.4:c.189T>C, NM_001037675.3:c.189T>C, NR_102404.3:n.1429T>C, NR_102404.2:n.1429T>C, NR_102404.1:n.361T>C, NR_102405.3:n.1169T>C, NR_102405.2:n.1169T>C, NM_001277444.2:c.189T>C, NM_001277444.1:c.189T>C, XM_047420572.1:c.189T>C, NM_001388368.1:c.189T>C, NM_001388370.1:c.189T>C, NM_001388366.1:c.189T>C, NM_001388371.1:c.189T>C, NM_001388367.1:c.189T>C, NM_001388376.1:c.189T>C, NM_001388373.1:c.189T>C, NM_001388379.1:c.189T>C, NM_001388381.1:c.189T>C, NM_001388378.1:c.189T>C, NM_001388375.1:c.189T>C, NM_001388372.1:c.189T>C, NM_001388377.1:c.189T>C, NM_001388384.1:c.189T>C, NM_001388374.1:c.189T>C, NM_001388382.1:c.189T>C, NM_001388383.1:c.189T>C, XR_007060075.1:n.4168T>C, XM_047420578.1:c.189T>C, NM_001388369.1:c.189T>C

                        12.

                        rs1482753954 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:149073818 (GRCh38)
                          1:144813794 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:149073817:C:T
                          Gene:
                          NBPF9 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1482035784 has merged into rs782072027 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:149075731 (GRCh38)
                            1:144811881 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:149075730:C:T
                            Gene:
                            NBPF9 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            A=0.000009/1 (ExAC)
                            HGVS:

                            14.

                            rs1481839069 has merged into rs781958879 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              1:149079028 (GRCh38)
                              1:144618275 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:149079027:G:A,NC_000001.11:149079027:G:T
                              Gene:
                              NBPF9 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000001.11:g.149079028G>A, NC_000001.11:g.149079028G>T, NW_003871055.3:g.5894441G>A, NW_003871055.3:g.5894441G>T, NC_000001.10:g.144618275C>T, NC_000001.10:g.144618275C>A, NW_025791753.1:g.57001C>T, NW_025791753.1:g.57001C>A, NM_001037501.5:c.472C>T, NM_001037501.5:c.472C>A, NM_001037501.4:c.472C>T, NM_001037501.4:c.472C>A, NM_001037501.3:c.472C>T, NM_001037501.3:c.472C>A, NM_001037501.2:c.472C>T, NM_001037501.2:c.472C>A, NM_001037675.4:c.472C>T, NM_001037675.4:c.472C>A, NM_001037675.3:c.472C>T, NM_001037675.3:c.472C>A, NR_102404.3:n.1712C>T, NR_102404.3:n.1712C>A, NR_102404.2:n.1712C>T, NR_102404.2:n.1712C>A, NR_102404.1:n.644C>T, NR_102404.1:n.644C>A, NR_102405.3:n.1452C>T, NR_102405.3:n.1452C>A, NR_102405.2:n.1452C>T, NR_102405.2:n.1452C>A, NR_102405.1:n.541C>T, NR_102405.1:n.541C>A, NM_001277444.2:c.472C>T, NM_001277444.2:c.472C>A, NM_001277444.1:c.472C>T, NM_001277444.1:c.472C>A, NM_001388367.1:c.472C>T, NM_001388367.1:c.472C>A, NM_001388376.1:c.472C>T, NM_001388376.1:c.472C>A, NM_001388366.1:c.472C>T, NM_001388366.1:c.472C>A, NM_001388373.1:c.472C>T, NM_001388373.1:c.472C>A, NM_001388379.1:c.472C>T, NM_001388379.1:c.472C>A, NM_001388381.1:c.472C>T, NM_001388381.1:c.472C>A, NM_001388378.1:c.472C>T, NM_001388378.1:c.472C>A, NM_001388372.1:c.472C>T, NM_001388372.1:c.472C>A, NM_001388384.1:c.472C>T, NM_001388384.1:c.472C>A, NM_001388374.1:c.472C>T, NM_001388374.1:c.472C>A, NM_001388382.1:c.472C>T, NM_001388382.1:c.472C>A, NM_001388383.1:c.472C>T, NM_001388383.1:c.472C>A, XR_007060075.1:n.4451C>T, XR_007060075.1:n.4451C>A, XM_047420578.1:c.472C>T, XM_047420578.1:c.472C>A, NM_001388377.1:c.472C>T, NM_001388377.1:c.472C>A, NM_001388368.1:c.472C>T, NM_001388368.1:c.472C>A, NM_001388369.1:c.472C>T, NM_001388369.1:c.472C>A, XM_047420572.1:c.472C>T, XM_047420572.1:c.472C>A, NM_001388371.1:c.472C>T, NM_001388371.1:c.472C>A, NM_001388375.1:c.472C>T, NM_001388375.1:c.472C>A, NM_001388370.1:c.472C>T, NM_001388370.1:c.472C>A, NP_001032764.2:p.Leu158Phe, NP_001032764.2:p.Leu158Ile, NP_001264373.1:p.Leu158Phe, NP_001264373.1:p.Leu158Ile, NP_001375296.1:p.Leu158Phe, NP_001375296.1:p.Leu158Ile, NP_001375305.1:p.Leu158Phe, NP_001375305.1:p.Leu158Ile, NP_001375295.1:p.Leu158Phe, NP_001375295.1:p.Leu158Ile, NP_001375302.1:p.Leu158Phe, NP_001375302.1:p.Leu158Ile, NP_001375308.1:p.Leu158Phe, NP_001375308.1:p.Leu158Ile, NP_001375310.1:p.Leu158Phe, NP_001375310.1:p.Leu158Ile, NP_001375307.1:p.Leu158Phe, NP_001375307.1:p.Leu158Ile, NP_001375301.1:p.Leu158Phe, NP_001375301.1:p.Leu158Ile, NP_001375313.1:p.Leu158Phe, NP_001375313.1:p.Leu158Ile, NP_001375303.1:p.Leu158Phe, NP_001375303.1:p.Leu158Ile, NP_001375311.1:p.Leu158Phe, NP_001375311.1:p.Leu158Ile, NP_001375312.1:p.Leu158Phe, NP_001375312.1:p.Leu158Ile, XP_047276534.1:p.Leu158Phe, XP_047276534.1:p.Leu158Ile, NP_001375306.1:p.Leu158Phe, NP_001375306.1:p.Leu158Ile, NP_001375297.1:p.Leu158Phe, NP_001375297.1:p.Leu158Ile, NP_001375298.1:p.Leu158Phe, NP_001375298.1:p.Leu158Ile, XP_047276528.1:p.Leu158Phe, XP_047276528.1:p.Leu158Ile, NP_001375300.1:p.Leu158Phe, NP_001375300.1:p.Leu158Ile, NP_001375304.1:p.Leu158Phe, NP_001375304.1:p.Leu158Ile, NP_001375299.1:p.Leu158Phe, NP_001375299.1:p.Leu158Ile

                              15.

                              rs1481783858 has merged into rs782680568 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                1:149071127 (GRCh38)
                                1:144816485 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:149071126:C:A,NC_000001.11:149071126:C:G,NC_000001.11:149071126:C:T
                                Gene:
                                NBPF9 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                G=0.000009/1 (ExAC)
                                G=0.000684/2 (KOREAN)
                                HGVS:
                                NC_000001.11:g.149071127C>A, NC_000001.11:g.149071127C>G, NC_000001.11:g.149071127C>T, NW_003871055.3:g.5886540C>A, NW_003871055.3:g.5886540C>G, NW_003871055.3:g.5886540C>T, NC_000001.10:g.144816485G>T, NC_000001.10:g.144816485G>C, NC_000001.10:g.144816485G>A, NM_001037675.4:c.1392G>T, NM_001037675.4:c.1392G>C, NM_001037675.4:c.1392G>A, NM_001037675.3:c.1392G>T, NM_001037675.3:c.1392G>C, NM_001037675.3:c.1392G>A, NM_001277444.2:c.1392G>T, NM_001277444.2:c.1392G>C, NM_001277444.2:c.1392G>A, NM_001277444.1:c.1392G>T, NM_001277444.1:c.1392G>C, NM_001277444.1:c.1392G>A, NM_001388368.1:c.1392G>T, NM_001388368.1:c.1392G>C, NM_001388368.1:c.1392G>A, NM_001388370.1:c.1392G>T, NM_001388370.1:c.1392G>C, NM_001388370.1:c.1392G>A, NM_001388366.1:c.1392G>T, NM_001388366.1:c.1392G>C, NM_001388366.1:c.1392G>A, NM_001388369.1:c.1392G>T, NM_001388369.1:c.1392G>C, NM_001388369.1:c.1392G>A, NM_001388371.1:c.1392G>T, NM_001388371.1:c.1392G>C, NM_001388371.1:c.1392G>A, NM_001388367.1:c.1392G>T, NM_001388367.1:c.1392G>C, NM_001388367.1:c.1392G>A, NM_001388376.1:c.1392G>T, NM_001388376.1:c.1392G>C, NM_001388376.1:c.1392G>A, NM_001388378.1:c.1392G>T, NM_001388378.1:c.1392G>C, NM_001388378.1:c.1392G>A, NM_001388375.1:c.1392G>T, NM_001388375.1:c.1392G>C, NM_001388375.1:c.1392G>A, NM_001388372.1:c.1392G>T, NM_001388372.1:c.1392G>C, NM_001388372.1:c.1392G>A, NM_001388377.1:c.1392G>T, NM_001388377.1:c.1392G>C, NM_001388377.1:c.1392G>A, NM_001388384.1:c.1392G>T, NM_001388384.1:c.1392G>C, NM_001388384.1:c.1392G>A, NM_001388383.1:c.1392G>T, NM_001388383.1:c.1392G>C, NM_001388383.1:c.1392G>A, XR_007060075.1:n.5371G>T, XR_007060075.1:n.5371G>C, XR_007060075.1:n.5371G>A, XM_047420578.1:c.1392G>T, XM_047420578.1:c.1392G>C, XM_047420578.1:c.1392G>A, NM_001388382.1:c.1392G>T, NM_001388382.1:c.1392G>C, NM_001388382.1:c.1392G>A, NM_001388381.1:c.1392G>T, NM_001388381.1:c.1392G>C, NM_001388381.1:c.1392G>A, NM_001388374.1:c.1392G>T, NM_001388374.1:c.1392G>C, NM_001388374.1:c.1392G>A, NM_001388373.1:c.1392G>T, NM_001388373.1:c.1392G>C, NM_001388373.1:c.1392G>A, NM_001388379.1:c.1392G>T, NM_001388379.1:c.1392G>C, NM_001388379.1:c.1392G>A, XM_047420572.1:c.1392G>T, XM_047420572.1:c.1392G>C, XM_047420572.1:c.1392G>A, NP_001032764.2:p.Lys464Asn, NP_001032764.2:p.Lys464Asn, NP_001264373.1:p.Lys464Asn, NP_001264373.1:p.Lys464Asn, NP_001375297.1:p.Lys464Asn, NP_001375297.1:p.Lys464Asn, NP_001375299.1:p.Lys464Asn, NP_001375299.1:p.Lys464Asn, NP_001375295.1:p.Lys464Asn, NP_001375295.1:p.Lys464Asn, NP_001375298.1:p.Lys464Asn, NP_001375298.1:p.Lys464Asn, NP_001375300.1:p.Lys464Asn, NP_001375300.1:p.Lys464Asn, NP_001375296.1:p.Lys464Asn, NP_001375296.1:p.Lys464Asn, NP_001375305.1:p.Lys464Asn, NP_001375305.1:p.Lys464Asn, NP_001375307.1:p.Lys464Asn, NP_001375307.1:p.Lys464Asn, NP_001375304.1:p.Lys464Asn, NP_001375304.1:p.Lys464Asn, NP_001375301.1:p.Lys464Asn, NP_001375301.1:p.Lys464Asn, NP_001375306.1:p.Lys464Asn, NP_001375306.1:p.Lys464Asn, NP_001375313.1:p.Lys464Asn, NP_001375313.1:p.Lys464Asn, NP_001375312.1:p.Lys464Asn, NP_001375312.1:p.Lys464Asn, XP_047276534.1:p.Lys464Asn, XP_047276534.1:p.Lys464Asn, NP_001375311.1:p.Lys464Asn, NP_001375311.1:p.Lys464Asn, NP_001375310.1:p.Lys464Asn, NP_001375310.1:p.Lys464Asn, NP_001375303.1:p.Lys464Asn, NP_001375303.1:p.Lys464Asn, NP_001375302.1:p.Lys464Asn, NP_001375302.1:p.Lys464Asn, NP_001375308.1:p.Lys464Asn, NP_001375308.1:p.Lys464Asn, XP_047276528.1:p.Lys464Asn, XP_047276528.1:p.Lys464Asn

                                16.

                                rs1481187900 has merged into rs782561164 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:149072912 (GRCh38)
                                  1:144814700 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:149072911:T:G
                                  Gene:
                                  NBPF9 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  C=0.000008/1 (ExAC)
                                  C=0.000008/2 (GnomAD_exomes)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.149072912T>G, NW_003871055.3:g.5888325T>G, NC_000001.10:g.144814700A>C, NM_001037675.4:c.1112A>C, NM_001037675.3:c.1112A>C, NM_001277444.2:c.1112A>C, NM_001277444.1:c.1112A>C, NM_001388368.1:c.1112A>C, NM_001388370.1:c.1112A>C, NM_001388366.1:c.1112A>C, NM_001388369.1:c.1112A>C, NM_001388371.1:c.1112A>C, NM_001388367.1:c.1112A>C, NM_001388376.1:c.1112A>C, NM_001388378.1:c.1112A>C, NM_001388375.1:c.1112A>C, NM_001388372.1:c.1112A>C, NM_001388377.1:c.1112A>C, NM_001388384.1:c.1112A>C, NM_001388383.1:c.1112A>C, XR_007060075.1:n.5091A>C, XM_047420578.1:c.1112A>C, NM_001388382.1:c.1112A>C, NM_001388381.1:c.1112A>C, NM_001388374.1:c.1112A>C, NM_001388373.1:c.1112A>C, NM_001388379.1:c.1112A>C, XM_047420572.1:c.1112A>C, NP_001032764.2:p.His371Pro, NP_001264373.1:p.His371Pro, NP_001375297.1:p.His371Pro, NP_001375299.1:p.His371Pro, NP_001375295.1:p.His371Pro, NP_001375298.1:p.His371Pro, NP_001375300.1:p.His371Pro, NP_001375296.1:p.His371Pro, NP_001375305.1:p.His371Pro, NP_001375307.1:p.His371Pro, NP_001375304.1:p.His371Pro, NP_001375301.1:p.His371Pro, NP_001375306.1:p.His371Pro, NP_001375313.1:p.His371Pro, NP_001375312.1:p.His371Pro, XP_047276534.1:p.His371Pro, NP_001375311.1:p.His371Pro, NP_001375310.1:p.His371Pro, NP_001375303.1:p.His371Pro, NP_001375302.1:p.His371Pro, NP_001375308.1:p.His371Pro, XP_047276528.1:p.His371Pro

                                  17.

                                  rs1480710857 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:149077258 (GRCh38)
                                    1:144620044 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:149077257:T:C
                                    Gene:
                                    NBPF9 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_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_000001.11:g.149077258T>C, NW_003871055.3:g.5892671T>C, NC_000001.10:g.144620044A>G, NW_025791753.1:g.58770A>G, NM_001037501.5:c.728A>G, NM_001037501.4:c.728A>G, NM_001037501.3:c.728A>G, NM_001037501.2:c.728A>G, NM_001037675.4:c.728A>G, NM_001037675.3:c.728A>G, NR_102404.3:n.1968A>G, NR_102404.2:n.1968A>G, NR_102404.1:n.900A>G, NR_102405.3:n.1708A>G, NR_102405.2:n.1708A>G, NR_102405.1:n.797A>G, NM_001277444.2:c.728A>G, NM_001277444.1:c.728A>G, NM_001388367.1:c.728A>G, NM_001388376.1:c.728A>G, NM_001388366.1:c.728A>G, NM_001388373.1:c.728A>G, NM_001388379.1:c.728A>G, NM_001388381.1:c.728A>G, NM_001388378.1:c.728A>G, NM_001388372.1:c.728A>G, NM_001388384.1:c.728A>G, NM_001388374.1:c.728A>G, NM_001388382.1:c.728A>G, NM_001388383.1:c.728A>G, XR_007060075.1:n.4707A>G, XM_047420578.1:c.728A>G, NM_001388377.1:c.728A>G, NM_001388368.1:c.728A>G, NM_001388369.1:c.728A>G, XM_047420572.1:c.728A>G, NM_001388371.1:c.728A>G, NM_001388375.1:c.728A>G, NM_001388370.1:c.728A>G, NP_001032764.2:p.Asp243Gly, NP_001264373.1:p.Asp243Gly, NP_001375296.1:p.Asp243Gly, NP_001375305.1:p.Asp243Gly, NP_001375295.1:p.Asp243Gly, NP_001375302.1:p.Asp243Gly, NP_001375308.1:p.Asp243Gly, NP_001375310.1:p.Asp243Gly, NP_001375307.1:p.Asp243Gly, NP_001375301.1:p.Asp243Gly, NP_001375313.1:p.Asp243Gly, NP_001375303.1:p.Asp243Gly, NP_001375311.1:p.Asp243Gly, NP_001375312.1:p.Asp243Gly, XP_047276534.1:p.Asp243Gly, NP_001375306.1:p.Asp243Gly, NP_001375297.1:p.Asp243Gly, NP_001375298.1:p.Asp243Gly, XP_047276528.1:p.Asp243Gly, NP_001375300.1:p.Asp243Gly, NP_001375304.1:p.Asp243Gly, NP_001375299.1:p.Asp243Gly

                                    18.

                                    rs1480244806 has merged into rs587661380 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      1:149063645 (GRCh38)
                                      1:144823973 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:149063644:C:G,NC_000001.11:149063644:C:T
                                      Gene:
                                      NBPF9 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.00121/28 (ALFA)
                                      G=0.0004/2 (1000Genomes)
                                      A=0.00119/20 (TOMMO)
                                      G=0.00398/10 (ExAC)
                                      G=0.005/3 (NorthernSweden)
                                      HGVS:
                                      NC_000001.11:g.149063645C>G, NC_000001.11:g.149063645C>T, NW_003871055.3:g.5879058C>G, NW_003871055.3:g.5879058C>T, NC_000001.10:g.144823973G>C, NC_000001.10:g.144823973G>A, NM_001037675.4:c.2014G>C, NM_001037675.4:c.2014G>A, NM_001037675.3:c.2014G>C, NM_001037675.3:c.2014G>A, NM_001277444.2:c.2014G>C, NM_001277444.2:c.2014G>A, NM_001277444.1:c.2014G>C, NM_001277444.1:c.2014G>A, XM_047420572.1:c.2014G>C, XM_047420572.1:c.2014G>A, NM_001388368.1:c.2014G>C, NM_001388368.1:c.2014G>A, NM_001388370.1:c.2014G>C, NM_001388370.1:c.2014G>A, NM_001388366.1:c.2014G>C, NM_001388366.1:c.2014G>A, NM_001388369.1:c.2014G>C, NM_001388369.1:c.2014G>A, NM_001388371.1:c.1903G>C, NM_001388371.1:c.1903G>A, NM_001388367.1:c.2014G>C, NM_001388367.1:c.2014G>A, NM_001388376.1:c.2014G>C, NM_001388376.1:c.2014G>A, NM_001388373.1:c.2014G>C, NM_001388373.1:c.2014G>A, NM_001388379.1:c.2014G>C, NM_001388379.1:c.2014G>A, NM_001388381.1:c.2014G>C, NM_001388381.1:c.2014G>A, NM_001388378.1:c.2014G>C, NM_001388378.1:c.2014G>A, NM_001388375.1:c.2014G>C, NM_001388375.1:c.2014G>A, NM_001388372.1:c.2014G>C, NM_001388372.1:c.2014G>A, NM_001388377.1:c.2014G>C, NM_001388377.1:c.2014G>A, NM_001388384.1:c.2014G>C, NM_001388384.1:c.2014G>A, NM_001388374.1:c.2014G>C, NM_001388374.1:c.2014G>A, NM_001388382.1:c.2014G>C, NM_001388382.1:c.2014G>A, NM_001388383.1:c.2014G>C, NM_001388383.1:c.2014G>A, NP_001032764.2:p.Val672Leu, NP_001032764.2:p.Val672Ile, NP_001264373.1:p.Val672Leu, NP_001264373.1:p.Val672Ile, XP_047276528.1:p.Val672Leu, XP_047276528.1:p.Val672Ile, NP_001375297.1:p.Val672Leu, NP_001375297.1:p.Val672Ile, NP_001375299.1:p.Val672Leu, NP_001375299.1:p.Val672Ile, NP_001375295.1:p.Val672Leu, NP_001375295.1:p.Val672Ile, NP_001375298.1:p.Val672Leu, NP_001375298.1:p.Val672Ile, NP_001375300.1:p.Val635Leu, NP_001375300.1:p.Val635Ile, NP_001375296.1:p.Val672Leu, NP_001375296.1:p.Val672Ile, NP_001375305.1:p.Val672Leu, NP_001375305.1:p.Val672Ile, NP_001375302.1:p.Val672Leu, NP_001375302.1:p.Val672Ile, NP_001375308.1:p.Val672Leu, NP_001375308.1:p.Val672Ile, NP_001375310.1:p.Val672Leu, NP_001375310.1:p.Val672Ile, NP_001375307.1:p.Val672Leu, NP_001375307.1:p.Val672Ile, NP_001375304.1:p.Val672Leu, NP_001375304.1:p.Val672Ile, NP_001375301.1:p.Val672Leu, NP_001375301.1:p.Val672Ile, NP_001375306.1:p.Val672Leu, NP_001375306.1:p.Val672Ile, NP_001375313.1:p.Val672Leu, NP_001375313.1:p.Val672Ile, NP_001375303.1:p.Val672Leu, NP_001375303.1:p.Val672Ile, NP_001375311.1:p.Val672Leu, NP_001375311.1:p.Val672Ile, NP_001375312.1:p.Val672Leu, NP_001375312.1:p.Val672Ile

                                      19.

                                      rs1478621870 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:149081995 (GRCh38)
                                        1:144615273 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:149081994:C:T
                                        Gene:
                                        NBPF9 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000144/3 (ALFA)
                                        T=0.000035/1 (TOMMO)
                                        T=0.000058/8 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.149081995C>T, NW_003871055.3:g.5897408C>T, NC_000001.10:g.144615273G>A, NW_025791753.1:g.53999G>A, NM_001037501.5:c.145G>A, NM_001037501.4:c.145G>A, NM_001037501.3:c.145G>A, NM_001037501.2:c.145G>A, NM_001037675.4:c.145G>A, NM_001037675.3:c.145G>A, NR_102404.3:n.1385G>A, NR_102404.2:n.1385G>A, NR_102404.1:n.317G>A, NR_102405.3:n.1125G>A, NR_102405.2:n.1125G>A, NR_102405.1:n.317G>A, NM_001277444.2:c.145G>A, NM_001277444.1:c.145G>A, NM_001388367.1:c.145G>A, NM_001388376.1:c.145G>A, NM_001388366.1:c.145G>A, NM_001388373.1:c.145G>A, NM_001388379.1:c.145G>A, NM_001388381.1:c.145G>A, NM_001388378.1:c.145G>A, NM_001388372.1:c.145G>A, NM_001388384.1:c.145G>A, NM_001388374.1:c.145G>A, NM_001388382.1:c.145G>A, NM_001388383.1:c.145G>A, XR_007060075.1:n.4124G>A, XM_047420578.1:c.145G>A, NM_001388377.1:c.145G>A, NM_001388368.1:c.145G>A, NM_001388369.1:c.145G>A, XM_047420572.1:c.145G>A, NM_001388371.1:c.145G>A, NM_001388375.1:c.145G>A, NM_001388370.1:c.145G>A, NP_001032764.2:p.Gly49Ser, NP_001264373.1:p.Gly49Ser, NP_001375296.1:p.Gly49Ser, NP_001375305.1:p.Gly49Ser, NP_001375295.1:p.Gly49Ser, NP_001375302.1:p.Gly49Ser, NP_001375308.1:p.Gly49Ser, NP_001375310.1:p.Gly49Ser, NP_001375307.1:p.Gly49Ser, NP_001375301.1:p.Gly49Ser, NP_001375313.1:p.Gly49Ser, NP_001375303.1:p.Gly49Ser, NP_001375311.1:p.Gly49Ser, NP_001375312.1:p.Gly49Ser, XP_047276534.1:p.Gly49Ser, NP_001375306.1:p.Gly49Ser, NP_001375297.1:p.Gly49Ser, NP_001375298.1:p.Gly49Ser, XP_047276528.1:p.Gly49Ser, NP_001375300.1:p.Gly49Ser, NP_001375304.1:p.Gly49Ser, NP_001375299.1:p.Gly49Ser

                                        20.

                                        rs1478592546 has merged into rs782229410 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          1:149075694 (GRCh38)
                                          1:144811918 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:149075693:G:A,NC_000001.11:149075693:G:C
                                          Gene:
                                          NBPF9 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,stop_gained,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          C=0.000008/2 (TOPMED)
                                          T=0.000009/1 (ExAC)
                                          HGVS:
                                          NC_000001.11:g.149075694G>A, NC_000001.11:g.149075694G>C, NW_003871055.3:g.5891107G>A, NW_003871055.3:g.5891107G>C, NC_000001.10:g.144811918C>T, NC_000001.10:g.144811918C>G, NM_001037675.4:c.949C>T, NM_001037675.4:c.949C>G, NM_001037675.3:c.949C>T, NM_001037675.3:c.949C>G, NM_001277444.2:c.949C>T, NM_001277444.2:c.949C>G, NM_001277444.1:c.949C>T, NM_001277444.1:c.949C>G, NM_001388368.1:c.949C>T, NM_001388368.1:c.949C>G, NM_001388370.1:c.949C>T, NM_001388370.1:c.949C>G, NM_001388366.1:c.949C>T, NM_001388366.1:c.949C>G, NM_001388369.1:c.949C>T, NM_001388369.1:c.949C>G, NM_001388371.1:c.949C>T, NM_001388371.1:c.949C>G, NM_001388367.1:c.949C>T, NM_001388367.1:c.949C>G, NM_001388376.1:c.949C>T, NM_001388376.1:c.949C>G, NM_001388378.1:c.949C>T, NM_001388378.1:c.949C>G, NM_001388375.1:c.949C>T, NM_001388375.1:c.949C>G, NM_001388372.1:c.949C>T, NM_001388372.1:c.949C>G, NM_001388377.1:c.949C>T, NM_001388377.1:c.949C>G, NM_001388384.1:c.949C>T, NM_001388384.1:c.949C>G, NM_001388383.1:c.949C>T, NM_001388383.1:c.949C>G, XR_007060075.1:n.4928C>T, XR_007060075.1:n.4928C>G, XM_047420578.1:c.949C>T, XM_047420578.1:c.949C>G, NM_001388382.1:c.949C>T, NM_001388382.1:c.949C>G, NM_001388381.1:c.949C>T, NM_001388381.1:c.949C>G, NM_001388374.1:c.949C>T, NM_001388374.1:c.949C>G, NM_001388373.1:c.949C>T, NM_001388373.1:c.949C>G, NM_001388379.1:c.949C>T, NM_001388379.1:c.949C>G, XM_047420572.1:c.949C>T, XM_047420572.1:c.949C>G, NP_001032764.2:p.Gln317Ter, NP_001032764.2:p.Gln317Glu, NP_001264373.1:p.Gln317Ter, NP_001264373.1:p.Gln317Glu, NP_001375297.1:p.Gln317Ter, NP_001375297.1:p.Gln317Glu, NP_001375299.1:p.Gln317Ter, NP_001375299.1:p.Gln317Glu, NP_001375295.1:p.Gln317Ter, NP_001375295.1:p.Gln317Glu, NP_001375298.1:p.Gln317Ter, NP_001375298.1:p.Gln317Glu, NP_001375300.1:p.Gln317Ter, NP_001375300.1:p.Gln317Glu, NP_001375296.1:p.Gln317Ter, NP_001375296.1:p.Gln317Glu, NP_001375305.1:p.Gln317Ter, NP_001375305.1:p.Gln317Glu, NP_001375307.1:p.Gln317Ter, NP_001375307.1:p.Gln317Glu, NP_001375304.1:p.Gln317Ter, NP_001375304.1:p.Gln317Glu, NP_001375301.1:p.Gln317Ter, NP_001375301.1:p.Gln317Glu, NP_001375306.1:p.Gln317Ter, NP_001375306.1:p.Gln317Glu, NP_001375313.1:p.Gln317Ter, NP_001375313.1:p.Gln317Glu, NP_001375312.1:p.Gln317Ter, NP_001375312.1:p.Gln317Glu, XP_047276534.1:p.Gln317Ter, XP_047276534.1:p.Gln317Glu, NP_001375311.1:p.Gln317Ter, NP_001375311.1:p.Gln317Glu, NP_001375310.1:p.Gln317Ter, NP_001375310.1:p.Gln317Glu, NP_001375303.1:p.Gln317Ter, NP_001375303.1:p.Gln317Glu, NP_001375302.1:p.Gln317Ter, NP_001375302.1:p.Gln317Glu, NP_001375308.1:p.Gln317Ter, NP_001375308.1:p.Gln317Glu, XP_047276528.1:p.Gln317Ter, XP_047276528.1:p.Gln317Glu

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