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Items: 1 to 20 of 1009

1.

rs1489746692 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:24568854 (GRCh38)
    6:24569082 (GRCh37)
    Canonical SPDI:
    NC_000006.12:24568853:G:A
    Gene:
    KIAA0319 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000011/3 (TOPMED)
    A=0.000212/4 (TOMMO)
    HGVS:
    NC_000006.12:g.24568854G>A, NC_000006.11:g.24569082G>A, NG_016206.1:g.82302C>T, NM_014809.4:c.2067C>T, NM_014809.3:c.2067C>T, NM_001168375.2:c.2067C>T, NM_001168375.1:c.2067C>T, NM_001168374.2:c.2040C>T, NM_001168374.1:c.2040C>T, NM_001350405.2:c.1968C>T, NM_001350405.1:c.1968C>T, NM_001168376.2:c.1932C>T, NM_001168376.1:c.1932C>T, NM_001350408.2:c.2067C>T, NM_001350408.1:c.2067C>T, NM_001350404.2:c.2049C>T, NM_001350404.1:c.2049C>T, NM_001168377.2:c.2067C>T, NM_001168377.1:c.2067C>T, NM_001350410.2:c.1611C>T, NM_001350410.1:c.1611C>T, NM_001350403.2:c.2067C>T, NM_001350403.1:c.2067C>T, NM_001350407.2:c.2067C>T, NM_001350407.1:c.2067C>T, NM_001350406.2:c.1932C>T, NM_001350406.1:c.1932C>T, NM_001350409.2:c.1611C>T, NM_001350409.1:c.1611C>T, NM_001252328.2:c.300C>T, NM_001252328.1:c.300C>T, XM_017011546.3:c.2067C>T, XM_017011546.2:c.2067C>T, XM_017011546.1:c.2067C>T, XM_017011541.2:c.2040C>T, XM_017011541.1:c.2040C>T, XM_017011544.2:c.1968C>T, XM_017011544.1:c.1968C>T, XM_017011550.2:c.2067C>T, XM_017011550.1:c.2067C>T, XM_047419603.1:c.1968C>T, XM_047419602.1:c.2067C>T, XM_047419604.1:c.2067C>T

    2.

    rs1489141487 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:24563374 (GRCh38)
      6:24563602 (GRCh37)
      Canonical SPDI:
      NC_000006.12:24563373:G:A
      Gene:
      KIAA0319 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.24563374G>A, NC_000006.11:g.24563602G>A, NG_016206.1:g.87782C>T, NM_014809.4:c.2576C>T, NM_014809.3:c.2576C>T, NM_001168375.2:c.2576C>T, NM_001168375.1:c.2576C>T, NM_001168374.2:c.2549C>T, NM_001168374.1:c.2549C>T, NM_001350405.2:c.2477C>T, NM_001350405.1:c.2477C>T, NM_001168376.2:c.2441C>T, NM_001168376.1:c.2441C>T, NM_001350408.2:c.2576C>T, NM_001350408.1:c.2576C>T, NM_001350404.2:c.2558C>T, NM_001350404.1:c.2558C>T, NM_001168377.2:c.2576C>T, NM_001168377.1:c.2576C>T, NM_001350410.2:c.2120C>T, NM_001350410.1:c.2120C>T, NM_001350403.2:c.2576C>T, NM_001350403.1:c.2576C>T, NM_001350407.2:c.2576C>T, NM_001350407.1:c.2576C>T, NM_001350406.2:c.2441C>T, NM_001350406.1:c.2441C>T, NM_001350409.2:c.2120C>T, NM_001350409.1:c.2120C>T, NM_001252328.2:c.809C>T, NM_001252328.1:c.809C>T, XM_017011546.3:c.2576C>T, XM_017011546.2:c.2576C>T, XM_017011546.1:c.2576C>T, XM_017011541.2:c.2549C>T, XM_017011541.1:c.2549C>T, XM_017011544.2:c.2477C>T, XM_017011544.1:c.2477C>T, XM_017011550.2:c.2576C>T, XM_017011550.1:c.2576C>T, XM_047419603.1:c.2477C>T, XM_047419602.1:c.2576C>T, XM_047419604.1:c.2576C>T, NP_055624.2:p.Ala859Val, NP_001161847.1:p.Ala859Val, NP_001161846.1:p.Ala850Val, NP_001337334.1:p.Ala826Val, NP_001161848.1:p.Ala814Val, NP_001337337.1:p.Ala859Val, NP_001337333.1:p.Ala853Val, NP_001161849.1:p.Ala859Val, NP_001337339.1:p.Ala707Val, NP_001337332.1:p.Ala859Val, NP_001337336.1:p.Ala859Val, NP_001337335.1:p.Ala814Val, NP_001337338.1:p.Ala707Val, NP_001239257.1:p.Ala270Val, XP_016867035.1:p.Ala859Val, XP_016867030.1:p.Ala850Val, XP_016867033.1:p.Ala826Val, XP_016867039.1:p.Ala859Val, XP_047275559.1:p.Ala826Val, XP_047275558.1:p.Ala859Val, XP_047275560.1:p.Ala859Val

      3.

      rs1488824270 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:24588618 (GRCh38)
        6:24588846 (GRCh37)
        Canonical SPDI:
        NC_000006.12:24588617:T:C
        Gene:
        KIAA0319 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000006.12:g.24588618T>C, NC_000006.11:g.24588846T>C, NG_016206.1:g.62538A>G, NM_014809.4:c.969A>G, NM_014809.3:c.969A>G, NM_001168375.2:c.969A>G, NM_001168375.1:c.969A>G, NM_001168374.2:c.942A>G, NM_001168374.1:c.942A>G, NM_001350405.2:c.969A>G, NM_001350405.1:c.969A>G, NM_001168376.2:c.834A>G, NM_001168376.1:c.834A>G, NM_001350408.2:c.969A>G, NM_001350408.1:c.969A>G, NM_001350404.2:c.951A>G, NM_001350404.1:c.951A>G, NM_001168377.2:c.969A>G, NM_001168377.1:c.969A>G, NM_001350410.2:c.513A>G, NM_001350410.1:c.513A>G, NM_001350403.2:c.969A>G, NM_001350403.1:c.969A>G, NM_001350407.2:c.969A>G, NM_001350407.1:c.969A>G, NM_001350406.2:c.834A>G, NM_001350406.1:c.834A>G, NM_001350409.2:c.513A>G, NM_001350409.1:c.513A>G, XM_017011546.3:c.969A>G, XM_017011546.2:c.969A>G, XM_017011546.1:c.969A>G, XM_017011541.2:c.942A>G, XM_017011541.1:c.942A>G, XM_017011544.2:c.969A>G, XM_017011544.1:c.969A>G, XM_017011550.2:c.969A>G, XM_017011550.1:c.969A>G, XM_047419603.1:c.969A>G, XM_047419602.1:c.969A>G, XM_047419604.1:c.969A>G, NP_055624.2:p.Ile323Met, NP_001161847.1:p.Ile323Met, NP_001161846.1:p.Ile314Met, NP_001337334.1:p.Ile323Met, NP_001161848.1:p.Ile278Met, NP_001337337.1:p.Ile323Met, NP_001337333.1:p.Ile317Met, NP_001161849.1:p.Ile323Met, NP_001337339.1:p.Ile171Met, NP_001337332.1:p.Ile323Met, NP_001337336.1:p.Ile323Met, NP_001337335.1:p.Ile278Met, NP_001337338.1:p.Ile171Met, XP_016867035.1:p.Ile323Met, XP_016867030.1:p.Ile314Met, XP_016867033.1:p.Ile323Met, XP_016867039.1:p.Ile323Met, XP_047275559.1:p.Ile323Met, XP_047275558.1:p.Ile323Met, XP_047275560.1:p.Ile323Met

        4.

        rs1487987823 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          6:24596256 (GRCh38)
          6:24596484 (GRCh37)
          Canonical SPDI:
          NC_000006.12:24596255:C:G
          Gene:
          KIAA0319 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000224/1 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000223/1 (Estonian)
          HGVS:
          NC_000006.12:g.24596256C>G, NC_000006.11:g.24596484C>G, NG_016206.1:g.54900G>C, NM_014809.4:c.418G>C, NM_014809.3:c.418G>C, NM_001168375.2:c.418G>C, NM_001168375.1:c.418G>C, NM_001168374.2:c.391G>C, NM_001168374.1:c.391G>C, NM_001350405.2:c.418G>C, NM_001350405.1:c.418G>C, NM_001168376.2:c.283G>C, NM_001168376.1:c.283G>C, NM_001350408.2:c.418G>C, NM_001350408.1:c.418G>C, NM_001350404.2:c.400G>C, NM_001350404.1:c.400G>C, NM_001168377.2:c.418G>C, NM_001168377.1:c.418G>C, NM_001350403.2:c.418G>C, NM_001350403.1:c.418G>C, NM_001350407.2:c.418G>C, NM_001350407.1:c.418G>C, NM_001350406.2:c.283G>C, NM_001350406.1:c.283G>C, XM_017011546.3:c.418G>C, XM_017011546.2:c.418G>C, XM_017011546.1:c.418G>C, XM_017011541.2:c.391G>C, XM_017011541.1:c.391G>C, XM_017011544.2:c.418G>C, XM_017011544.1:c.418G>C, XM_017011550.2:c.418G>C, XM_017011550.1:c.418G>C, XM_047419603.1:c.418G>C, XM_047419602.1:c.418G>C, XM_047419604.1:c.418G>C, NP_055624.2:p.Asp140His, NP_001161847.1:p.Asp140His, NP_001161846.1:p.Asp131His, NP_001337334.1:p.Asp140His, NP_001161848.1:p.Asp95His, NP_001337337.1:p.Asp140His, NP_001337333.1:p.Asp134His, NP_001161849.1:p.Asp140His, NP_001337332.1:p.Asp140His, NP_001337336.1:p.Asp140His, NP_001337335.1:p.Asp95His, XP_016867035.1:p.Asp140His, XP_016867030.1:p.Asp131His, XP_016867033.1:p.Asp140His, XP_016867039.1:p.Asp140His, XP_047275559.1:p.Asp140His, XP_047275558.1:p.Asp140His, XP_047275560.1:p.Asp140His

          5.

          rs1487926437 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            6:24551518 (GRCh38)
            6:24551746 (GRCh37)
            Canonical SPDI:
            NC_000006.12:24551517:TTTTTT:TTTTT
            Gene:
            KIAA0319 (Varview)
            Functional Consequence:
            coding_sequence_variant,frameshift_variant,intron_variant
            HGVS:
            NC_000006.12:g.24551523del, NC_000006.11:g.24551751del, NG_016206.1:g.99638del, NM_014809.4:c.2956del, NM_014809.3:c.2956del, NM_001168375.2:c.2956del, NM_001168375.1:c.2956del, NM_001168374.2:c.2929del, NM_001168374.1:c.2929del, NM_001350405.2:c.2857del, NM_001350405.1:c.2857del, NM_001168376.2:c.2821del, NM_001168376.1:c.2821del, NM_001350408.2:c.2865del, NM_001350408.1:c.2865del, NM_001350404.2:c.2938del, NM_001350404.1:c.2938del, NM_001350410.2:c.2500del, NM_001350410.1:c.2500del, NM_001350403.2:c.2956del, NM_001350403.1:c.2956del, NM_001350407.2:c.2865del, NM_001350407.1:c.2865del, NM_001350406.2:c.2821del, NM_001350406.1:c.2821del, NM_001350409.2:c.2500del, NM_001350409.1:c.2500del, NM_001252328.2:c.1189del, NM_001252328.1:c.1189del, XM_017011541.2:c.2929del, XM_017011541.1:c.2929del, XM_017011544.2:c.2857del, XM_017011544.1:c.2857del, XM_017011550.2:c.2865del, XM_017011550.1:c.2865del, XM_047419603.1:c.2857del, XM_047419602.1:c.2956del, XM_047419604.1:c.2742del, NP_055624.2:p.Arg986fs, NP_001161847.1:p.Arg986fs, NP_001161846.1:p.Arg977fs, NP_001337334.1:p.Arg953fs, NP_001161848.1:p.Arg941fs, NP_001337337.1:p.Gly956fs, NP_001337333.1:p.Arg980fs, NP_001337339.1:p.Arg834fs, NP_001337332.1:p.Arg986fs, NP_001337336.1:p.Gly956fs, NP_001337335.1:p.Arg941fs, NP_001337338.1:p.Arg834fs, NP_001239257.1:p.Arg397fs, XP_016867030.1:p.Arg977fs, XP_016867033.1:p.Arg953fs, XP_016867039.1:p.Gly956fs, XP_047275559.1:p.Arg953fs, XP_047275558.1:p.Arg986fs, XP_047275560.1:p.Gly915fs

            6.

            rs1487195550 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              6:24595888 (GRCh38)
              6:24596116 (GRCh37)
              Canonical SPDI:
              NC_000006.12:24595887:G:T
              Gene:
              KIAA0319 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000032/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000006.12:g.24595888G>T, NC_000006.11:g.24596116G>T, NG_016206.1:g.55268C>A, NM_014809.4:c.786C>A, NM_014809.3:c.786C>A, NM_001168375.2:c.786C>A, NM_001168375.1:c.786C>A, NM_001168374.2:c.759C>A, NM_001168374.1:c.759C>A, NM_001350405.2:c.786C>A, NM_001350405.1:c.786C>A, NM_001168376.2:c.651C>A, NM_001168376.1:c.651C>A, NM_001350408.2:c.786C>A, NM_001350408.1:c.786C>A, NM_001350404.2:c.768C>A, NM_001350404.1:c.768C>A, NM_001168377.2:c.786C>A, NM_001168377.1:c.786C>A, NM_001350410.2:c.330C>A, NM_001350410.1:c.330C>A, NM_001350403.2:c.786C>A, NM_001350403.1:c.786C>A, NM_001350407.2:c.786C>A, NM_001350407.1:c.786C>A, NM_001350406.2:c.651C>A, NM_001350406.1:c.651C>A, NM_001350409.2:c.330C>A, NM_001350409.1:c.330C>A, XM_017011546.3:c.786C>A, XM_017011546.2:c.786C>A, XM_017011546.1:c.786C>A, XM_017011541.2:c.759C>A, XM_017011541.1:c.759C>A, XM_017011544.2:c.786C>A, XM_017011544.1:c.786C>A, XM_017011550.2:c.786C>A, XM_017011550.1:c.786C>A, XM_047419603.1:c.786C>A, XM_047419602.1:c.786C>A, XM_047419604.1:c.786C>A, NP_055624.2:p.Asn262Lys, NP_001161847.1:p.Asn262Lys, NP_001161846.1:p.Asn253Lys, NP_001337334.1:p.Asn262Lys, NP_001161848.1:p.Asn217Lys, NP_001337337.1:p.Asn262Lys, NP_001337333.1:p.Asn256Lys, NP_001161849.1:p.Asn262Lys, NP_001337339.1:p.Asn110Lys, NP_001337332.1:p.Asn262Lys, NP_001337336.1:p.Asn262Lys, NP_001337335.1:p.Asn217Lys, NP_001337338.1:p.Asn110Lys, XP_016867035.1:p.Asn262Lys, XP_016867030.1:p.Asn253Lys, XP_016867033.1:p.Asn262Lys, XP_016867039.1:p.Asn262Lys, XP_047275559.1:p.Asn262Lys, XP_047275558.1:p.Asn262Lys, XP_047275560.1:p.Asn262Lys

              7.

              rs1486302540 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                6:24556645 (GRCh38)
                6:24556874 (GRCh37)
                Canonical SPDI:
                NC_000006.12:24556645:GG:GGG
                Gene:
                KIAA0319 (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant,intron_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.24556647dup, NC_000006.11:g.24556875dup, NG_016206.1:g.94510dup, NM_014809.4:c.2818dup, NM_014809.3:c.2818dup, NM_001168375.2:c.2818dup, NM_001168375.1:c.2818dup, NM_001168374.2:c.2791dup, NM_001168374.1:c.2791dup, NM_001350405.2:c.2719dup, NM_001350405.1:c.2719dup, NM_001168376.2:c.2683dup, NM_001168376.1:c.2683dup, NM_001350408.2:c.2818dup, NM_001350408.1:c.2818dup, NM_001350404.2:c.2800dup, NM_001350404.1:c.2800dup, NM_001168377.2:c.2818dup, NM_001168377.1:c.2818dup, NM_001350410.2:c.2362dup, NM_001350410.1:c.2362dup, NM_001350403.2:c.2818dup, NM_001350403.1:c.2818dup, NM_001350407.2:c.2818dup, NM_001350407.1:c.2818dup, NM_001350406.2:c.2683dup, NM_001350406.1:c.2683dup, NM_001350409.2:c.2362dup, NM_001350409.1:c.2362dup, NM_001252328.2:c.1051dup, NM_001252328.1:c.1051dup, XM_017011546.3:c.2818dup, XM_017011546.2:c.2818dup, XM_017011546.1:c.2818dup, XM_017011541.2:c.2791dup, XM_017011541.1:c.2791dup, XM_017011544.2:c.2719dup, XM_017011544.1:c.2719dup, XM_017011550.2:c.2818dup, XM_017011550.1:c.2818dup, XM_047419603.1:c.2719dup, XM_047419602.1:c.2818dup, NP_055624.2:p.Leu940fs, NP_001161847.1:p.Leu940fs, NP_001161846.1:p.Leu931fs, NP_001337334.1:p.Leu907fs, NP_001161848.1:p.Leu895fs, NP_001337337.1:p.Leu940fs, NP_001337333.1:p.Leu934fs, NP_001161849.1:p.Leu940fs, NP_001337339.1:p.Leu788fs, NP_001337332.1:p.Leu940fs, NP_001337336.1:p.Leu940fs, NP_001337335.1:p.Leu895fs, NP_001337338.1:p.Leu788fs, NP_001239257.1:p.Leu351fs, XP_016867035.1:p.Leu940fs, XP_016867030.1:p.Leu931fs, XP_016867033.1:p.Leu907fs, XP_016867039.1:p.Leu940fs, XP_047275559.1:p.Leu907fs, XP_047275558.1:p.Leu940fs

                8.

                rs1484881470 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  6:24578140 (GRCh38)
                  6:24578368 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:24578139:G:C
                  Gene:
                  KIAA0319 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,5_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.24578140G>C, NC_000006.11:g.24578368G>C, NG_016206.1:g.73016C>G, NM_014809.4:c.1475C>G, NM_014809.3:c.1475C>G, NM_001168375.2:c.1475C>G, NM_001168375.1:c.1475C>G, NM_001168374.2:c.1448C>G, NM_001168374.1:c.1448C>G, NM_001350405.2:c.1376C>G, NM_001350405.1:c.1376C>G, NM_001168376.2:c.1340C>G, NM_001168376.1:c.1340C>G, NM_001350408.2:c.1475C>G, NM_001350408.1:c.1475C>G, NM_001350404.2:c.1457C>G, NM_001350404.1:c.1457C>G, NM_001168377.2:c.1475C>G, NM_001168377.1:c.1475C>G, NM_001350410.2:c.1019C>G, NM_001350410.1:c.1019C>G, NM_001350403.2:c.1475C>G, NM_001350403.1:c.1475C>G, NM_001350407.2:c.1475C>G, NM_001350407.1:c.1475C>G, NM_001350406.2:c.1340C>G, NM_001350406.1:c.1340C>G, NM_001350409.2:c.1019C>G, NM_001350409.1:c.1019C>G, NM_001252328.2:c.-254C>G, NM_001252328.1:c.-254C>G, XM_017011546.3:c.1475C>G, XM_017011546.2:c.1475C>G, XM_017011546.1:c.1475C>G, XM_017011541.2:c.1448C>G, XM_017011541.1:c.1448C>G, XM_017011544.2:c.1376C>G, XM_017011544.1:c.1376C>G, XM_017011550.2:c.1475C>G, XM_017011550.1:c.1475C>G, XM_047419603.1:c.1376C>G, XM_047419602.1:c.1475C>G, XM_047419604.1:c.1475C>G, NP_055624.2:p.Ser492Cys, NP_001161847.1:p.Ser492Cys, NP_001161846.1:p.Ser483Cys, NP_001337334.1:p.Ser459Cys, NP_001161848.1:p.Ser447Cys, NP_001337337.1:p.Ser492Cys, NP_001337333.1:p.Ser486Cys, NP_001161849.1:p.Ser492Cys, NP_001337339.1:p.Ser340Cys, NP_001337332.1:p.Ser492Cys, NP_001337336.1:p.Ser492Cys, NP_001337335.1:p.Ser447Cys, NP_001337338.1:p.Ser340Cys, XP_016867035.1:p.Ser492Cys, XP_016867030.1:p.Ser483Cys, XP_016867033.1:p.Ser459Cys, XP_016867039.1:p.Ser492Cys, XP_047275559.1:p.Ser459Cys, XP_047275558.1:p.Ser492Cys, XP_047275560.1:p.Ser492Cys

                  9.

                  rs1484669399 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    6:24559145 (GRCh38)
                    6:24559373 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:24559144:C:A
                    Gene:
                    KIAA0319 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.24559145C>A, NC_000006.11:g.24559373C>A, NG_016206.1:g.92011G>T, NM_014809.4:c.2602G>T, NM_014809.3:c.2602G>T, NM_001168375.2:c.2602G>T, NM_001168375.1:c.2602G>T, NM_001168374.2:c.2575G>T, NM_001168374.1:c.2575G>T, NM_001350405.2:c.2503G>T, NM_001350405.1:c.2503G>T, NM_001168376.2:c.2467G>T, NM_001168376.1:c.2467G>T, NM_001350408.2:c.2602G>T, NM_001350408.1:c.2602G>T, NM_001350404.2:c.2584G>T, NM_001350404.1:c.2584G>T, NM_001168377.2:c.2602G>T, NM_001168377.1:c.2602G>T, NM_001350410.2:c.2146G>T, NM_001350410.1:c.2146G>T, NM_001350403.2:c.2602G>T, NM_001350403.1:c.2602G>T, NM_001350407.2:c.2602G>T, NM_001350407.1:c.2602G>T, NM_001350406.2:c.2467G>T, NM_001350406.1:c.2467G>T, NM_001350409.2:c.2146G>T, NM_001350409.1:c.2146G>T, NM_001252328.2:c.835G>T, NM_001252328.1:c.835G>T, XM_017011546.3:c.2602G>T, XM_017011546.2:c.2602G>T, XM_017011546.1:c.2602G>T, XM_017011541.2:c.2575G>T, XM_017011541.1:c.2575G>T, XM_017011544.2:c.2503G>T, XM_017011544.1:c.2503G>T, XM_017011550.2:c.2602G>T, XM_017011550.1:c.2602G>T, XM_047419603.1:c.2503G>T, XM_047419602.1:c.2602G>T, XM_047419604.1:c.2602G>T, NP_055624.2:p.Val868Leu, NP_001161847.1:p.Val868Leu, NP_001161846.1:p.Val859Leu, NP_001337334.1:p.Val835Leu, NP_001161848.1:p.Val823Leu, NP_001337337.1:p.Val868Leu, NP_001337333.1:p.Val862Leu, NP_001161849.1:p.Val868Leu, NP_001337339.1:p.Val716Leu, NP_001337332.1:p.Val868Leu, NP_001337336.1:p.Val868Leu, NP_001337335.1:p.Val823Leu, NP_001337338.1:p.Val716Leu, NP_001239257.1:p.Val279Leu, XP_016867035.1:p.Val868Leu, XP_016867030.1:p.Val859Leu, XP_016867033.1:p.Val835Leu, XP_016867039.1:p.Val868Leu, XP_047275559.1:p.Val835Leu, XP_047275558.1:p.Val868Leu, XP_047275560.1:p.Val868Leu

                    10.

                    rs1484621600 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C,T [Show Flanks]
                      Chromosome:
                      6:24564320 (GRCh38)
                      6:24564548 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:24564319:G:C,NC_000006.12:24564319:G:T
                      Gene:
                      KIAA0319 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000006.12:g.24564320G>C, NC_000006.12:g.24564320G>T, NC_000006.11:g.24564548G>C, NC_000006.11:g.24564548G>T, NG_016206.1:g.86836C>G, NG_016206.1:g.86836C>A, NM_014809.4:c.2313C>G, NM_014809.4:c.2313C>A, NM_014809.3:c.2313C>G, NM_014809.3:c.2313C>A, NM_001168375.2:c.2313C>G, NM_001168375.2:c.2313C>A, NM_001168375.1:c.2313C>G, NM_001168375.1:c.2313C>A, NM_001168374.2:c.2286C>G, NM_001168374.2:c.2286C>A, NM_001168374.1:c.2286C>G, NM_001168374.1:c.2286C>A, NM_001350405.2:c.2214C>G, NM_001350405.2:c.2214C>A, NM_001350405.1:c.2214C>G, NM_001350405.1:c.2214C>A, NM_001168376.2:c.2178C>G, NM_001168376.2:c.2178C>A, NM_001168376.1:c.2178C>G, NM_001168376.1:c.2178C>A, NM_001350408.2:c.2313C>G, NM_001350408.2:c.2313C>A, NM_001350408.1:c.2313C>G, NM_001350408.1:c.2313C>A, NM_001350404.2:c.2295C>G, NM_001350404.2:c.2295C>A, NM_001350404.1:c.2295C>G, NM_001350404.1:c.2295C>A, NM_001168377.2:c.2313C>G, NM_001168377.2:c.2313C>A, NM_001168377.1:c.2313C>G, NM_001168377.1:c.2313C>A, NM_001350410.2:c.1857C>G, NM_001350410.2:c.1857C>A, NM_001350410.1:c.1857C>G, NM_001350410.1:c.1857C>A, NM_001350403.2:c.2313C>G, NM_001350403.2:c.2313C>A, NM_001350403.1:c.2313C>G, NM_001350403.1:c.2313C>A, NM_001350407.2:c.2313C>G, NM_001350407.2:c.2313C>A, NM_001350407.1:c.2313C>G, NM_001350407.1:c.2313C>A, NM_001350406.2:c.2178C>G, NM_001350406.2:c.2178C>A, NM_001350406.1:c.2178C>G, NM_001350406.1:c.2178C>A, NM_001350409.2:c.1857C>G, NM_001350409.2:c.1857C>A, NM_001350409.1:c.1857C>G, NM_001350409.1:c.1857C>A, NM_001252328.2:c.546C>G, NM_001252328.2:c.546C>A, NM_001252328.1:c.546C>G, NM_001252328.1:c.546C>A, XM_017011546.3:c.2313C>G, XM_017011546.3:c.2313C>A, XM_017011546.2:c.2313C>G, XM_017011546.2:c.2313C>A, XM_017011546.1:c.2313C>G, XM_017011546.1:c.2313C>A, XM_017011541.2:c.2286C>G, XM_017011541.2:c.2286C>A, XM_017011541.1:c.2286C>G, XM_017011541.1:c.2286C>A, XM_017011544.2:c.2214C>G, XM_017011544.2:c.2214C>A, XM_017011544.1:c.2214C>G, XM_017011544.1:c.2214C>A, XM_017011550.2:c.2313C>G, XM_017011550.2:c.2313C>A, XM_017011550.1:c.2313C>G, XM_017011550.1:c.2313C>A, XM_047419603.1:c.2214C>G, XM_047419603.1:c.2214C>A, XM_047419602.1:c.2313C>G, XM_047419602.1:c.2313C>A, XM_047419604.1:c.2313C>G, XM_047419604.1:c.2313C>A, NP_055624.2:p.Asp771Glu, NP_055624.2:p.Asp771Glu, NP_001161847.1:p.Asp771Glu, NP_001161847.1:p.Asp771Glu, NP_001161846.1:p.Asp762Glu, NP_001161846.1:p.Asp762Glu, NP_001337334.1:p.Asp738Glu, NP_001337334.1:p.Asp738Glu, NP_001161848.1:p.Asp726Glu, NP_001161848.1:p.Asp726Glu, NP_001337337.1:p.Asp771Glu, NP_001337337.1:p.Asp771Glu, NP_001337333.1:p.Asp765Glu, NP_001337333.1:p.Asp765Glu, NP_001161849.1:p.Asp771Glu, NP_001161849.1:p.Asp771Glu, NP_001337339.1:p.Asp619Glu, NP_001337339.1:p.Asp619Glu, NP_001337332.1:p.Asp771Glu, NP_001337332.1:p.Asp771Glu, NP_001337336.1:p.Asp771Glu, NP_001337336.1:p.Asp771Glu, NP_001337335.1:p.Asp726Glu, NP_001337335.1:p.Asp726Glu, NP_001337338.1:p.Asp619Glu, NP_001337338.1:p.Asp619Glu, NP_001239257.1:p.Asp182Glu, NP_001239257.1:p.Asp182Glu, XP_016867035.1:p.Asp771Glu, XP_016867035.1:p.Asp771Glu, XP_016867030.1:p.Asp762Glu, XP_016867030.1:p.Asp762Glu, XP_016867033.1:p.Asp738Glu, XP_016867033.1:p.Asp738Glu, XP_016867039.1:p.Asp771Glu, XP_016867039.1:p.Asp771Glu, XP_047275559.1:p.Asp738Glu, XP_047275559.1:p.Asp738Glu, XP_047275558.1:p.Asp771Glu, XP_047275558.1:p.Asp771Glu, XP_047275560.1:p.Asp771Glu, XP_047275560.1:p.Asp771Glu

                      11.

                      rs1479937717 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        6:24582257 (GRCh38)
                        6:24582485 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:24582256:G:A,NC_000006.12:24582256:G:C,NC_000006.12:24582256:G:T
                        Gene:
                        KIAA0319 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000006.12:g.24582257G>A, NC_000006.12:g.24582257G>C, NC_000006.12:g.24582257G>T, NC_000006.11:g.24582485G>A, NC_000006.11:g.24582485G>C, NC_000006.11:g.24582485G>T, NG_016206.1:g.68899C>T, NG_016206.1:g.68899C>G, NG_016206.1:g.68899C>A, NM_014809.4:c.1183C>T, NM_014809.4:c.1183C>G, NM_014809.4:c.1183C>A, NM_014809.3:c.1183C>T, NM_014809.3:c.1183C>G, NM_014809.3:c.1183C>A, NM_001168375.2:c.1183C>T, NM_001168375.2:c.1183C>G, NM_001168375.2:c.1183C>A, NM_001168375.1:c.1183C>T, NM_001168375.1:c.1183C>G, NM_001168375.1:c.1183C>A, NM_001168374.2:c.1156C>T, NM_001168374.2:c.1156C>G, NM_001168374.2:c.1156C>A, NM_001168374.1:c.1156C>T, NM_001168374.1:c.1156C>G, NM_001168374.1:c.1156C>A, NM_001350405.2:c.1084C>T, NM_001350405.2:c.1084C>G, NM_001350405.2:c.1084C>A, NM_001350405.1:c.1084C>T, NM_001350405.1:c.1084C>G, NM_001350405.1:c.1084C>A, NM_001168376.2:c.1048C>T, NM_001168376.2:c.1048C>G, NM_001168376.2:c.1048C>A, NM_001168376.1:c.1048C>T, NM_001168376.1:c.1048C>G, NM_001168376.1:c.1048C>A, NM_001350408.2:c.1183C>T, NM_001350408.2:c.1183C>G, NM_001350408.2:c.1183C>A, NM_001350408.1:c.1183C>T, NM_001350408.1:c.1183C>G, NM_001350408.1:c.1183C>A, NM_001350404.2:c.1165C>T, NM_001350404.2:c.1165C>G, NM_001350404.2:c.1165C>A, NM_001350404.1:c.1165C>T, NM_001350404.1:c.1165C>G, NM_001350404.1:c.1165C>A, NM_001168377.2:c.1183C>T, NM_001168377.2:c.1183C>G, NM_001168377.2:c.1183C>A, NM_001168377.1:c.1183C>T, NM_001168377.1:c.1183C>G, NM_001168377.1:c.1183C>A, NM_001350410.2:c.727C>T, NM_001350410.2:c.727C>G, NM_001350410.2:c.727C>A, NM_001350410.1:c.727C>T, NM_001350410.1:c.727C>G, NM_001350410.1:c.727C>A, NM_001350403.2:c.1183C>T, NM_001350403.2:c.1183C>G, NM_001350403.2:c.1183C>A, NM_001350403.1:c.1183C>T, NM_001350403.1:c.1183C>G, NM_001350403.1:c.1183C>A, NM_001350407.2:c.1183C>T, NM_001350407.2:c.1183C>G, NM_001350407.2:c.1183C>A, NM_001350407.1:c.1183C>T, NM_001350407.1:c.1183C>G, NM_001350407.1:c.1183C>A, NM_001350406.2:c.1048C>T, NM_001350406.2:c.1048C>G, NM_001350406.2:c.1048C>A, NM_001350406.1:c.1048C>T, NM_001350406.1:c.1048C>G, NM_001350406.1:c.1048C>A, NM_001350409.2:c.727C>T, NM_001350409.2:c.727C>G, NM_001350409.2:c.727C>A, NM_001350409.1:c.727C>T, NM_001350409.1:c.727C>G, NM_001350409.1:c.727C>A, NM_001252328.2:c.-546C>T, NM_001252328.2:c.-546C>G, NM_001252328.2:c.-546C>A, NM_001252328.1:c.-546C>T, NM_001252328.1:c.-546C>G, NM_001252328.1:c.-546C>A, XM_017011546.3:c.1183C>T, XM_017011546.3:c.1183C>G, XM_017011546.3:c.1183C>A, XM_017011546.2:c.1183C>T, XM_017011546.2:c.1183C>G, XM_017011546.2:c.1183C>A, XM_017011546.1:c.1183C>T, XM_017011546.1:c.1183C>G, XM_017011546.1:c.1183C>A, XM_017011541.2:c.1156C>T, XM_017011541.2:c.1156C>G, XM_017011541.2:c.1156C>A, XM_017011541.1:c.1156C>T, XM_017011541.1:c.1156C>G, XM_017011541.1:c.1156C>A, XM_017011544.2:c.1084C>T, XM_017011544.2:c.1084C>G, XM_017011544.2:c.1084C>A, XM_017011544.1:c.1084C>T, XM_017011544.1:c.1084C>G, XM_017011544.1:c.1084C>A, XM_017011550.2:c.1183C>T, XM_017011550.2:c.1183C>G, XM_017011550.2:c.1183C>A, XM_017011550.1:c.1183C>T, XM_017011550.1:c.1183C>G, XM_017011550.1:c.1183C>A, XM_047419603.1:c.1084C>T, XM_047419603.1:c.1084C>G, XM_047419603.1:c.1084C>A, XM_047419602.1:c.1183C>T, XM_047419602.1:c.1183C>G, XM_047419602.1:c.1183C>A, XM_047419604.1:c.1183C>T, XM_047419604.1:c.1183C>G, XM_047419604.1:c.1183C>A, NP_055624.2:p.Leu395Phe, NP_055624.2:p.Leu395Val, NP_055624.2:p.Leu395Ile, NP_001161847.1:p.Leu395Phe, NP_001161847.1:p.Leu395Val, NP_001161847.1:p.Leu395Ile, NP_001161846.1:p.Leu386Phe, NP_001161846.1:p.Leu386Val, NP_001161846.1:p.Leu386Ile, NP_001337334.1:p.Leu362Phe, NP_001337334.1:p.Leu362Val, NP_001337334.1:p.Leu362Ile, NP_001161848.1:p.Leu350Phe, NP_001161848.1:p.Leu350Val, NP_001161848.1:p.Leu350Ile, NP_001337337.1:p.Leu395Phe, NP_001337337.1:p.Leu395Val, NP_001337337.1:p.Leu395Ile, NP_001337333.1:p.Leu389Phe, NP_001337333.1:p.Leu389Val, NP_001337333.1:p.Leu389Ile, NP_001161849.1:p.Leu395Phe, NP_001161849.1:p.Leu395Val, NP_001161849.1:p.Leu395Ile, NP_001337339.1:p.Leu243Phe, NP_001337339.1:p.Leu243Val, NP_001337339.1:p.Leu243Ile, NP_001337332.1:p.Leu395Phe, NP_001337332.1:p.Leu395Val, NP_001337332.1:p.Leu395Ile, NP_001337336.1:p.Leu395Phe, NP_001337336.1:p.Leu395Val, NP_001337336.1:p.Leu395Ile, NP_001337335.1:p.Leu350Phe, NP_001337335.1:p.Leu350Val, NP_001337335.1:p.Leu350Ile, NP_001337338.1:p.Leu243Phe, NP_001337338.1:p.Leu243Val, NP_001337338.1:p.Leu243Ile, XP_016867035.1:p.Leu395Phe, XP_016867035.1:p.Leu395Val, XP_016867035.1:p.Leu395Ile, XP_016867030.1:p.Leu386Phe, XP_016867030.1:p.Leu386Val, XP_016867030.1:p.Leu386Ile, XP_016867033.1:p.Leu362Phe, XP_016867033.1:p.Leu362Val, XP_016867033.1:p.Leu362Ile, XP_016867039.1:p.Leu395Phe, XP_016867039.1:p.Leu395Val, XP_016867039.1:p.Leu395Ile, XP_047275559.1:p.Leu362Phe, XP_047275559.1:p.Leu362Val, XP_047275559.1:p.Leu362Ile, XP_047275558.1:p.Leu395Phe, XP_047275558.1:p.Leu395Val, XP_047275558.1:p.Leu395Ile, XP_047275560.1:p.Leu395Phe, XP_047275560.1:p.Leu395Val, XP_047275560.1:p.Leu395Ile

                        12.

                        rs1479927332 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:24563450 (GRCh38)
                          6:24563678 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:24563449:T:C
                          Gene:
                          KIAA0319 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000048/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000006.12:g.24563450T>C, NC_000006.11:g.24563678T>C, NG_016206.1:g.87706A>G, NM_014809.4:c.2500A>G, NM_014809.3:c.2500A>G, NM_001168375.2:c.2500A>G, NM_001168375.1:c.2500A>G, NM_001168374.2:c.2473A>G, NM_001168374.1:c.2473A>G, NM_001350405.2:c.2401A>G, NM_001350405.1:c.2401A>G, NM_001168376.2:c.2365A>G, NM_001168376.1:c.2365A>G, NM_001350408.2:c.2500A>G, NM_001350408.1:c.2500A>G, NM_001350404.2:c.2482A>G, NM_001350404.1:c.2482A>G, NM_001168377.2:c.2500A>G, NM_001168377.1:c.2500A>G, NM_001350410.2:c.2044A>G, NM_001350410.1:c.2044A>G, NM_001350403.2:c.2500A>G, NM_001350403.1:c.2500A>G, NM_001350407.2:c.2500A>G, NM_001350407.1:c.2500A>G, NM_001350406.2:c.2365A>G, NM_001350406.1:c.2365A>G, NM_001350409.2:c.2044A>G, NM_001350409.1:c.2044A>G, NM_001252328.2:c.733A>G, NM_001252328.1:c.733A>G, XM_017011546.3:c.2500A>G, XM_017011546.2:c.2500A>G, XM_017011546.1:c.2500A>G, XM_017011541.2:c.2473A>G, XM_017011541.1:c.2473A>G, XM_017011544.2:c.2401A>G, XM_017011544.1:c.2401A>G, XM_017011550.2:c.2500A>G, XM_017011550.1:c.2500A>G, XM_047419603.1:c.2401A>G, XM_047419602.1:c.2500A>G, XM_047419604.1:c.2500A>G, NP_055624.2:p.Lys834Glu, NP_001161847.1:p.Lys834Glu, NP_001161846.1:p.Lys825Glu, NP_001337334.1:p.Lys801Glu, NP_001161848.1:p.Lys789Glu, NP_001337337.1:p.Lys834Glu, NP_001337333.1:p.Lys828Glu, NP_001161849.1:p.Lys834Glu, NP_001337339.1:p.Lys682Glu, NP_001337332.1:p.Lys834Glu, NP_001337336.1:p.Lys834Glu, NP_001337335.1:p.Lys789Glu, NP_001337338.1:p.Lys682Glu, NP_001239257.1:p.Lys245Glu, XP_016867035.1:p.Lys834Glu, XP_016867030.1:p.Lys825Glu, XP_016867033.1:p.Lys801Glu, XP_016867039.1:p.Lys834Glu, XP_047275559.1:p.Lys801Glu, XP_047275558.1:p.Lys834Glu, XP_047275560.1:p.Lys834Glu

                          13.

                          rs1479807586 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:24581001 (GRCh38)
                            6:24581229 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:24581000:G:A
                            Gene:
                            KIAA0319 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,5_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.24581001G>A, NC_000006.11:g.24581229G>A, NG_016206.1:g.70155C>T, NM_014809.4:c.1204C>T, NM_014809.3:c.1204C>T, NM_001168375.2:c.1204C>T, NM_001168375.1:c.1204C>T, NM_001168374.2:c.1177C>T, NM_001168374.1:c.1177C>T, NM_001350405.2:c.1105C>T, NM_001350405.1:c.1105C>T, NM_001168376.2:c.1069C>T, NM_001168376.1:c.1069C>T, NM_001350408.2:c.1204C>T, NM_001350408.1:c.1204C>T, NM_001350404.2:c.1186C>T, NM_001350404.1:c.1186C>T, NM_001168377.2:c.1204C>T, NM_001168377.1:c.1204C>T, NM_001350410.2:c.748C>T, NM_001350410.1:c.748C>T, NM_001350403.2:c.1204C>T, NM_001350403.1:c.1204C>T, NM_001350407.2:c.1204C>T, NM_001350407.1:c.1204C>T, NM_001350406.2:c.1069C>T, NM_001350406.1:c.1069C>T, NM_001350409.2:c.748C>T, NM_001350409.1:c.748C>T, NM_001252328.2:c.-525C>T, NM_001252328.1:c.-525C>T, XM_017011546.3:c.1204C>T, XM_017011546.2:c.1204C>T, XM_017011546.1:c.1204C>T, XM_017011541.2:c.1177C>T, XM_017011541.1:c.1177C>T, XM_017011544.2:c.1105C>T, XM_017011544.1:c.1105C>T, XM_017011550.2:c.1204C>T, XM_017011550.1:c.1204C>T, XM_047419603.1:c.1105C>T, XM_047419602.1:c.1204C>T, XM_047419604.1:c.1204C>T, NP_055624.2:p.Leu402Phe, NP_001161847.1:p.Leu402Phe, NP_001161846.1:p.Leu393Phe, NP_001337334.1:p.Leu369Phe, NP_001161848.1:p.Leu357Phe, NP_001337337.1:p.Leu402Phe, NP_001337333.1:p.Leu396Phe, NP_001161849.1:p.Leu402Phe, NP_001337339.1:p.Leu250Phe, NP_001337332.1:p.Leu402Phe, NP_001337336.1:p.Leu402Phe, NP_001337335.1:p.Leu357Phe, NP_001337338.1:p.Leu250Phe, XP_016867035.1:p.Leu402Phe, XP_016867030.1:p.Leu393Phe, XP_016867033.1:p.Leu369Phe, XP_016867039.1:p.Leu402Phe, XP_047275559.1:p.Leu369Phe, XP_047275558.1:p.Leu402Phe, XP_047275560.1:p.Leu402Phe

                            14.

                            rs1475249566 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:24596172 (GRCh38)
                              6:24596400 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:24596171:A:G
                              Gene:
                              KIAA0319 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0./0 (Korea1K)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              G=0.000684/2 (KOREAN)
                              G=0.000743/12 (TOMMO)
                              HGVS:
                              NC_000006.12:g.24596172A>G, NC_000006.11:g.24596400A>G, NG_016206.1:g.54984T>C, NM_014809.4:c.502T>C, NM_014809.3:c.502T>C, NM_001168375.2:c.502T>C, NM_001168375.1:c.502T>C, NM_001168374.2:c.475T>C, NM_001168374.1:c.475T>C, NM_001350405.2:c.502T>C, NM_001350405.1:c.502T>C, NM_001168376.2:c.367T>C, NM_001168376.1:c.367T>C, NM_001350408.2:c.502T>C, NM_001350408.1:c.502T>C, NM_001350404.2:c.484T>C, NM_001350404.1:c.484T>C, NM_001168377.2:c.502T>C, NM_001168377.1:c.502T>C, NM_001350410.2:c.46T>C, NM_001350410.1:c.46T>C, NM_001350403.2:c.502T>C, NM_001350403.1:c.502T>C, NM_001350407.2:c.502T>C, NM_001350407.1:c.502T>C, NM_001350406.2:c.367T>C, NM_001350406.1:c.367T>C, NM_001350409.2:c.46T>C, NM_001350409.1:c.46T>C, XM_017011546.3:c.502T>C, XM_017011546.2:c.502T>C, XM_017011546.1:c.502T>C, XM_017011541.2:c.475T>C, XM_017011541.1:c.475T>C, XM_017011544.2:c.502T>C, XM_017011544.1:c.502T>C, XM_017011550.2:c.502T>C, XM_017011550.1:c.502T>C, XM_047419603.1:c.502T>C, XM_047419602.1:c.502T>C, XM_047419604.1:c.502T>C

                              15.

                              rs1475026201 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:24596128 (GRCh38)
                                6:24596356 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:24596127:G:A
                                Gene:
                                KIAA0319 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.24596128G>A, NC_000006.11:g.24596356G>A, NG_016206.1:g.55028C>T, NM_014809.4:c.546C>T, NM_014809.3:c.546C>T, NM_001168375.2:c.546C>T, NM_001168375.1:c.546C>T, NM_001168374.2:c.519C>T, NM_001168374.1:c.519C>T, NM_001350405.2:c.546C>T, NM_001350405.1:c.546C>T, NM_001168376.2:c.411C>T, NM_001168376.1:c.411C>T, NM_001350408.2:c.546C>T, NM_001350408.1:c.546C>T, NM_001350404.2:c.528C>T, NM_001350404.1:c.528C>T, NM_001168377.2:c.546C>T, NM_001168377.1:c.546C>T, NM_001350410.2:c.90C>T, NM_001350410.1:c.90C>T, NM_001350403.2:c.546C>T, NM_001350403.1:c.546C>T, NM_001350407.2:c.546C>T, NM_001350407.1:c.546C>T, NM_001350406.2:c.411C>T, NM_001350406.1:c.411C>T, NM_001350409.2:c.90C>T, NM_001350409.1:c.90C>T, XM_017011546.3:c.546C>T, XM_017011546.2:c.546C>T, XM_017011546.1:c.546C>T, XM_017011541.2:c.519C>T, XM_017011541.1:c.519C>T, XM_017011544.2:c.546C>T, XM_017011544.1:c.546C>T, XM_017011550.2:c.546C>T, XM_017011550.1:c.546C>T, XM_047419603.1:c.546C>T, XM_047419602.1:c.546C>T, XM_047419604.1:c.546C>T

                                16.

                                rs1475024381 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  6:24568915 (GRCh38)
                                  6:24569143 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:24568914:A:G
                                  Gene:
                                  KIAA0319 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.24568915A>G, NC_000006.11:g.24569143A>G, NG_016206.1:g.82241T>C, NM_014809.4:c.2006T>C, NM_014809.3:c.2006T>C, NM_001168375.2:c.2006T>C, NM_001168375.1:c.2006T>C, NM_001168374.2:c.1979T>C, NM_001168374.1:c.1979T>C, NM_001350405.2:c.1907T>C, NM_001350405.1:c.1907T>C, NM_001168376.2:c.1871T>C, NM_001168376.1:c.1871T>C, NM_001350408.2:c.2006T>C, NM_001350408.1:c.2006T>C, NM_001350404.2:c.1988T>C, NM_001350404.1:c.1988T>C, NM_001168377.2:c.2006T>C, NM_001168377.1:c.2006T>C, NM_001350410.2:c.1550T>C, NM_001350410.1:c.1550T>C, NM_001350403.2:c.2006T>C, NM_001350403.1:c.2006T>C, NM_001350407.2:c.2006T>C, NM_001350407.1:c.2006T>C, NM_001350406.2:c.1871T>C, NM_001350406.1:c.1871T>C, NM_001350409.2:c.1550T>C, NM_001350409.1:c.1550T>C, NM_001252328.2:c.239T>C, NM_001252328.1:c.239T>C, XM_017011546.3:c.2006T>C, XM_017011546.2:c.2006T>C, XM_017011546.1:c.2006T>C, XM_017011541.2:c.1979T>C, XM_017011541.1:c.1979T>C, XM_017011544.2:c.1907T>C, XM_017011544.1:c.1907T>C, XM_017011550.2:c.2006T>C, XM_017011550.1:c.2006T>C, XM_047419603.1:c.1907T>C, XM_047419602.1:c.2006T>C, XM_047419604.1:c.2006T>C, NP_055624.2:p.Val669Ala, NP_001161847.1:p.Val669Ala, NP_001161846.1:p.Val660Ala, NP_001337334.1:p.Val636Ala, NP_001161848.1:p.Val624Ala, NP_001337337.1:p.Val669Ala, NP_001337333.1:p.Val663Ala, NP_001161849.1:p.Val669Ala, NP_001337339.1:p.Val517Ala, NP_001337332.1:p.Val669Ala, NP_001337336.1:p.Val669Ala, NP_001337335.1:p.Val624Ala, NP_001337338.1:p.Val517Ala, NP_001239257.1:p.Val80Ala, XP_016867035.1:p.Val669Ala, XP_016867030.1:p.Val660Ala, XP_016867033.1:p.Val636Ala, XP_016867039.1:p.Val669Ala, XP_047275559.1:p.Val636Ala, XP_047275558.1:p.Val669Ala, XP_047275560.1:p.Val669Ala

                                  17.

                                  rs1474891363 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:24559099 (GRCh38)
                                    6:24559327 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:24559098:G:A
                                    Gene:
                                    KIAA0319 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.24559099G>A, NC_000006.11:g.24559327G>A, NG_016206.1:g.92057C>T, NM_014809.4:c.2648C>T, NM_014809.3:c.2648C>T, NM_001168375.2:c.2648C>T, NM_001168375.1:c.2648C>T, NM_001168374.2:c.2621C>T, NM_001168374.1:c.2621C>T, NM_001350405.2:c.2549C>T, NM_001350405.1:c.2549C>T, NM_001168376.2:c.2513C>T, NM_001168376.1:c.2513C>T, NM_001350408.2:c.2648C>T, NM_001350408.1:c.2648C>T, NM_001350404.2:c.2630C>T, NM_001350404.1:c.2630C>T, NM_001168377.2:c.2648C>T, NM_001168377.1:c.2648C>T, NM_001350410.2:c.2192C>T, NM_001350410.1:c.2192C>T, NM_001350403.2:c.2648C>T, NM_001350403.1:c.2648C>T, NM_001350407.2:c.2648C>T, NM_001350407.1:c.2648C>T, NM_001350406.2:c.2513C>T, NM_001350406.1:c.2513C>T, NM_001350409.2:c.2192C>T, NM_001350409.1:c.2192C>T, NM_001252328.2:c.881C>T, NM_001252328.1:c.881C>T, XM_017011546.3:c.2648C>T, XM_017011546.2:c.2648C>T, XM_017011546.1:c.2648C>T, XM_017011541.2:c.2621C>T, XM_017011541.1:c.2621C>T, XM_017011544.2:c.2549C>T, XM_017011544.1:c.2549C>T, XM_017011550.2:c.2648C>T, XM_017011550.1:c.2648C>T, XM_047419603.1:c.2549C>T, XM_047419602.1:c.2648C>T, XM_047419604.1:c.2648C>T, NP_055624.2:p.Ala883Val, NP_001161847.1:p.Ala883Val, NP_001161846.1:p.Ala874Val, NP_001337334.1:p.Ala850Val, NP_001161848.1:p.Ala838Val, NP_001337337.1:p.Ala883Val, NP_001337333.1:p.Ala877Val, NP_001161849.1:p.Ala883Val, NP_001337339.1:p.Ala731Val, NP_001337332.1:p.Ala883Val, NP_001337336.1:p.Ala883Val, NP_001337335.1:p.Ala838Val, NP_001337338.1:p.Ala731Val, NP_001239257.1:p.Ala294Val, XP_016867035.1:p.Ala883Val, XP_016867030.1:p.Ala874Val, XP_016867033.1:p.Ala850Val, XP_016867039.1:p.Ala883Val, XP_047275559.1:p.Ala850Val, XP_047275558.1:p.Ala883Val, XP_047275560.1:p.Ala883Val

                                    18.

                                    rs1473399479 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:24572580 (GRCh38)
                                      6:24572808 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:24572579:T:C
                                      Gene:
                                      KIAA0319 (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)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.24572580T>C, NC_000006.11:g.24572808T>C, NG_016206.1:g.78576A>G, NM_014809.4:c.1853A>G, NM_014809.3:c.1853A>G, NM_001168375.2:c.1853A>G, NM_001168375.1:c.1853A>G, NM_001168374.2:c.1826A>G, NM_001168374.1:c.1826A>G, NM_001350405.2:c.1754A>G, NM_001350405.1:c.1754A>G, NM_001168376.2:c.1718A>G, NM_001168376.1:c.1718A>G, NM_001350408.2:c.1853A>G, NM_001350408.1:c.1853A>G, NM_001350404.2:c.1835A>G, NM_001350404.1:c.1835A>G, NM_001168377.2:c.1853A>G, NM_001168377.1:c.1853A>G, NM_001350410.2:c.1397A>G, NM_001350410.1:c.1397A>G, NM_001350403.2:c.1853A>G, NM_001350403.1:c.1853A>G, NM_001350407.2:c.1853A>G, NM_001350407.1:c.1853A>G, NM_001350406.2:c.1718A>G, NM_001350406.1:c.1718A>G, NM_001350409.2:c.1397A>G, NM_001350409.1:c.1397A>G, NM_001252328.2:c.86A>G, NM_001252328.1:c.86A>G, XM_017011546.3:c.1853A>G, XM_017011546.2:c.1853A>G, XM_017011546.1:c.1853A>G, XM_017011541.2:c.1826A>G, XM_017011541.1:c.1826A>G, XM_017011544.2:c.1754A>G, XM_017011544.1:c.1754A>G, XM_017011550.2:c.1853A>G, XM_017011550.1:c.1853A>G, XM_047419603.1:c.1754A>G, XM_047419602.1:c.1853A>G, XM_047419604.1:c.1853A>G, NP_055624.2:p.Gln618Arg, NP_001161847.1:p.Gln618Arg, NP_001161846.1:p.Gln609Arg, NP_001337334.1:p.Gln585Arg, NP_001161848.1:p.Gln573Arg, NP_001337337.1:p.Gln618Arg, NP_001337333.1:p.Gln612Arg, NP_001161849.1:p.Gln618Arg, NP_001337339.1:p.Gln466Arg, NP_001337332.1:p.Gln618Arg, NP_001337336.1:p.Gln618Arg, NP_001337335.1:p.Gln573Arg, NP_001337338.1:p.Gln466Arg, NP_001239257.1:p.Gln29Arg, XP_016867035.1:p.Gln618Arg, XP_016867030.1:p.Gln609Arg, XP_016867033.1:p.Gln585Arg, XP_016867039.1:p.Gln618Arg, XP_047275559.1:p.Gln585Arg, XP_047275558.1:p.Gln618Arg, XP_047275560.1:p.Gln618Arg

                                      19.

                                      rs1473368112 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:24564319 (GRCh38)
                                        6:24564547 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:24564318:G:A
                                        Gene:
                                        KIAA0319 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.24564319G>A, NC_000006.11:g.24564547G>A, NG_016206.1:g.86837C>T, NM_014809.4:c.2314C>T, NM_014809.3:c.2314C>T, NM_001168375.2:c.2314C>T, NM_001168375.1:c.2314C>T, NM_001168374.2:c.2287C>T, NM_001168374.1:c.2287C>T, NM_001350405.2:c.2215C>T, NM_001350405.1:c.2215C>T, NM_001168376.2:c.2179C>T, NM_001168376.1:c.2179C>T, NM_001350408.2:c.2314C>T, NM_001350408.1:c.2314C>T, NM_001350404.2:c.2296C>T, NM_001350404.1:c.2296C>T, NM_001168377.2:c.2314C>T, NM_001168377.1:c.2314C>T, NM_001350410.2:c.1858C>T, NM_001350410.1:c.1858C>T, NM_001350403.2:c.2314C>T, NM_001350403.1:c.2314C>T, NM_001350407.2:c.2314C>T, NM_001350407.1:c.2314C>T, NM_001350406.2:c.2179C>T, NM_001350406.1:c.2179C>T, NM_001350409.2:c.1858C>T, NM_001350409.1:c.1858C>T, NM_001252328.2:c.547C>T, NM_001252328.1:c.547C>T, XM_017011546.3:c.2314C>T, XM_017011546.2:c.2314C>T, XM_017011546.1:c.2314C>T, XM_017011541.2:c.2287C>T, XM_017011541.1:c.2287C>T, XM_017011544.2:c.2215C>T, XM_017011544.1:c.2215C>T, XM_017011550.2:c.2314C>T, XM_017011550.1:c.2314C>T, XM_047419603.1:c.2215C>T, XM_047419602.1:c.2314C>T, XM_047419604.1:c.2314C>T, NP_055624.2:p.His772Tyr, NP_001161847.1:p.His772Tyr, NP_001161846.1:p.His763Tyr, NP_001337334.1:p.His739Tyr, NP_001161848.1:p.His727Tyr, NP_001337337.1:p.His772Tyr, NP_001337333.1:p.His766Tyr, NP_001161849.1:p.His772Tyr, NP_001337339.1:p.His620Tyr, NP_001337332.1:p.His772Tyr, NP_001337336.1:p.His772Tyr, NP_001337335.1:p.His727Tyr, NP_001337338.1:p.His620Tyr, NP_001239257.1:p.His183Tyr, XP_016867035.1:p.His772Tyr, XP_016867030.1:p.His763Tyr, XP_016867033.1:p.His739Tyr, XP_016867039.1:p.His772Tyr, XP_047275559.1:p.His739Tyr, XP_047275558.1:p.His772Tyr, XP_047275560.1:p.His772Tyr

                                        20.

                                        rs1472668066 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          6:24559037 (GRCh38)
                                          6:24559265 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:24559036:T:G
                                          Gene:
                                          KIAA0319 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          G=0.000342/1 (KOREAN)
                                          HGVS:
                                          NC_000006.12:g.24559037T>G, NC_000006.11:g.24559265T>G, NG_016206.1:g.92119A>C, NM_014809.4:c.2710A>C, NM_014809.3:c.2710A>C, NM_001168375.2:c.2710A>C, NM_001168375.1:c.2710A>C, NM_001168374.2:c.2683A>C, NM_001168374.1:c.2683A>C, NM_001350405.2:c.2611A>C, NM_001350405.1:c.2611A>C, NM_001168376.2:c.2575A>C, NM_001168376.1:c.2575A>C, NM_001350408.2:c.2710A>C, NM_001350408.1:c.2710A>C, NM_001350404.2:c.2692A>C, NM_001350404.1:c.2692A>C, NM_001168377.2:c.2710A>C, NM_001168377.1:c.2710A>C, NM_001350410.2:c.2254A>C, NM_001350410.1:c.2254A>C, NM_001350403.2:c.2710A>C, NM_001350403.1:c.2710A>C, NM_001350407.2:c.2710A>C, NM_001350407.1:c.2710A>C, NM_001350406.2:c.2575A>C, NM_001350406.1:c.2575A>C, NM_001350409.2:c.2254A>C, NM_001350409.1:c.2254A>C, NM_001252328.2:c.943A>C, NM_001252328.1:c.943A>C, XM_017011546.3:c.2710A>C, XM_017011546.2:c.2710A>C, XM_017011546.1:c.2710A>C, XM_017011541.2:c.2683A>C, XM_017011541.1:c.2683A>C, XM_017011544.2:c.2611A>C, XM_017011544.1:c.2611A>C, XM_017011550.2:c.2710A>C, XM_017011550.1:c.2710A>C, XM_047419603.1:c.2611A>C, XM_047419602.1:c.2710A>C, XM_047419604.1:c.2710A>C, NP_055624.2:p.Lys904Gln, NP_001161847.1:p.Lys904Gln, NP_001161846.1:p.Lys895Gln, NP_001337334.1:p.Lys871Gln, NP_001161848.1:p.Lys859Gln, NP_001337337.1:p.Lys904Gln, NP_001337333.1:p.Lys898Gln, NP_001161849.1:p.Lys904Gln, NP_001337339.1:p.Lys752Gln, NP_001337332.1:p.Lys904Gln, NP_001337336.1:p.Lys904Gln, NP_001337335.1:p.Lys859Gln, NP_001337338.1:p.Lys752Gln, NP_001239257.1:p.Lys315Gln, XP_016867035.1:p.Lys904Gln, XP_016867030.1:p.Lys895Gln, XP_016867033.1:p.Lys871Gln, XP_016867039.1:p.Lys904Gln, XP_047275559.1:p.Lys871Gln, XP_047275558.1:p.Lys904Gln, XP_047275560.1:p.Lys904Gln

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