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Items: 1 to 20 of 939

1.

rs1490988074 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:47762250 (GRCh38)
    15:48054447 (GRCh37)
    Canonical SPDI:
    NC_000015.10:47762249:G:A
    Gene:
    SEMA6D (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000015.10:g.47762250G>A, NC_000015.9:g.48054447G>A, NG_029119.2:g.583045G>A, NM_001358351.3:c.589G>A, NM_001358351.2:c.589G>A, NM_001358351.1:c.589G>A, NM_024966.3:c.589G>A, NM_024966.2:c.589G>A, NM_153618.2:c.589G>A, NM_153618.1:c.589G>A, NM_153617.2:c.589G>A, NM_153617.1:c.589G>A, NM_020858.2:c.589G>A, NM_020858.1:c.589G>A, NM_153616.2:c.589G>A, NM_153616.1:c.589G>A, NM_001198999.2:c.589G>A, NM_001198999.1:c.589G>A, NM_001358352.2:c.589G>A, NM_001358352.1:c.589G>A, NM_153619.1:c.589G>A, XM_017022617.3:c.589G>A, XM_017022617.2:c.589G>A, XM_017022617.1:c.589G>A, XM_011522075.3:c.589G>A, XM_011522075.2:c.589G>A, XM_011522075.1:c.589G>A, XM_011522076.3:c.589G>A, XM_011522076.2:c.589G>A, XM_011522076.1:c.589G>A, XM_011522077.3:c.589G>A, XM_011522077.2:c.589G>A, XM_011522077.1:c.589G>A, XM_011522078.3:c.589G>A, XM_011522078.2:c.589G>A, XM_011522078.1:c.589G>A, XM_011522079.3:c.589G>A, XM_011522079.2:c.589G>A, XM_011522079.1:c.589G>A, XM_011522080.3:c.589G>A, XM_011522080.2:c.589G>A, XM_011522080.1:c.589G>A, XM_011522081.3:c.589G>A, XM_011522081.2:c.589G>A, XM_011522081.1:c.589G>A, XM_024450075.2:c.589G>A, XM_024450075.1:c.589G>A, XM_024450074.2:c.589G>A, XM_024450074.1:c.589G>A, XM_024450073.2:c.589G>A, XM_024450073.1:c.589G>A, XM_017022620.2:c.589G>A, XM_017022620.1:c.589G>A, XM_017022621.2:c.589G>A, XM_017022621.1:c.589G>A, XM_024450076.2:c.589G>A, XM_024450076.1:c.589G>A, XM_047433108.1:c.589G>A, XM_047433119.1:c.589G>A, XM_047433110.1:c.589G>A, XM_047433113.1:c.589G>A, XM_047433121.1:c.589G>A, XM_047433125.1:c.589G>A, XM_047433109.1:c.589G>A, XM_047433129.1:c.589G>A, XM_047433116.1:c.589G>A, XM_047433111.1:c.589G>A, XM_047433106.1:c.589G>A, XM_047433118.1:c.589G>A, XM_047433124.1:c.589G>A, XM_047433114.1:c.589G>A, XM_047433123.1:c.589G>A, XM_047433115.1:c.589G>A, XM_047433126.1:c.589G>A, XM_047433133.1:c.589G>A, XM_047433112.1:c.589G>A, XM_047433127.1:c.589G>A, XM_047433107.1:c.589G>A, XM_047433122.1:c.589G>A, XM_047433137.1:c.589G>A, XM_047433130.1:c.589G>A, XM_047433120.1:c.589G>A, XM_047433117.1:c.589G>A, XM_047433128.1:c.589G>A, XM_047433132.1:c.589G>A, XM_047433134.1:c.589G>A, XM_047433136.1:c.589G>A, XM_047433135.1:c.589G>A, XM_047433138.1:c.589G>A, XM_047433139.1:c.589G>A, NP_001345280.1:p.Val197Ile, NP_079242.2:p.Val197Ile, NP_705871.1:p.Val197Ile, NP_705870.1:p.Val197Ile, NP_065909.1:p.Val197Ile, NP_705869.1:p.Val197Ile, NP_001185928.1:p.Val197Ile, NP_001345281.1:p.Val197Ile, NP_705872.1:p.Val197Ile, XP_016878106.1:p.Val197Ile, XP_011520377.1:p.Val197Ile, XP_011520378.1:p.Val197Ile, XP_011520379.1:p.Val197Ile, XP_011520380.1:p.Val197Ile, XP_011520381.1:p.Val197Ile, XP_011520382.1:p.Val197Ile, XP_011520383.1:p.Val197Ile, XP_024305843.1:p.Val197Ile, XP_024305842.1:p.Val197Ile, XP_024305841.1:p.Val197Ile, XP_016878109.1:p.Val197Ile, XP_016878110.1:p.Val197Ile, XP_024305844.1:p.Val197Ile, XP_047289064.1:p.Val197Ile, XP_047289075.1:p.Val197Ile, XP_047289066.1:p.Val197Ile, XP_047289069.1:p.Val197Ile, XP_047289077.1:p.Val197Ile, XP_047289081.1:p.Val197Ile, XP_047289065.1:p.Val197Ile, XP_047289085.1:p.Val197Ile, XP_047289072.1:p.Val197Ile, XP_047289067.1:p.Val197Ile, XP_047289062.1:p.Val197Ile, XP_047289074.1:p.Val197Ile, XP_047289080.1:p.Val197Ile, XP_047289070.1:p.Val197Ile, XP_047289079.1:p.Val197Ile, XP_047289071.1:p.Val197Ile, XP_047289082.1:p.Val197Ile, XP_047289089.1:p.Val197Ile, XP_047289068.1:p.Val197Ile, XP_047289083.1:p.Val197Ile, XP_047289063.1:p.Val197Ile, XP_047289078.1:p.Val197Ile, XP_047289093.1:p.Val197Ile, XP_047289086.1:p.Val197Ile, XP_047289076.1:p.Val197Ile, XP_047289073.1:p.Val197Ile, XP_047289084.1:p.Val197Ile, XP_047289088.1:p.Val197Ile, XP_047289090.1:p.Val197Ile, XP_047289092.1:p.Val197Ile, XP_047289091.1:p.Val197Ile, XP_047289094.1:p.Val197Ile, XP_047289095.1:p.Val197Ile

    2.

    rs1490964248 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GAT>- [Show Flanks]
      Chromosome:
      15:47760979 (GRCh38)
      15:48053176 (GRCh37)
      Canonical SPDI:
      NC_000015.10:47760978:GAT:
      Gene:
      SEMA6D (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_deletion
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.00008/1 (GoESP)
      HGVS:
      NC_000015.10:g.47760979_47760981del, NC_000015.9:g.48053176_48053178del, NG_029119.2:g.581774_581776del, NM_001358351.3:c.223_225del, NM_001358351.2:c.223_225del, NM_001358351.1:c.223_225del, NM_024966.3:c.223_225del, NM_024966.2:c.223_225del, NM_153618.2:c.223_225del, NM_153618.1:c.223_225del, NM_153617.2:c.223_225del, NM_153617.1:c.223_225del, NM_020858.2:c.223_225del, NM_020858.1:c.223_225del, NM_153616.2:c.223_225del, NM_153616.1:c.223_225del, NM_001198999.2:c.223_225del, NM_001198999.1:c.223_225del, NM_001358352.2:c.223_225del, NM_001358352.1:c.223_225del, NM_153619.1:c.223_225del, XM_017022617.3:c.223_225del, XM_017022617.2:c.223_225del, XM_017022617.1:c.223_225del, XM_011522075.3:c.223_225del, XM_011522075.2:c.223_225del, XM_011522075.1:c.223_225del, XM_011522076.3:c.223_225del, XM_011522076.2:c.223_225del, XM_011522076.1:c.223_225del, XM_011522077.3:c.223_225del, XM_011522077.2:c.223_225del, XM_011522077.1:c.223_225del, XM_011522078.3:c.223_225del, XM_011522078.2:c.223_225del, XM_011522078.1:c.223_225del, XM_011522079.3:c.223_225del, XM_011522079.2:c.223_225del, XM_011522079.1:c.223_225del, XM_011522080.3:c.223_225del, XM_011522080.2:c.223_225del, XM_011522080.1:c.223_225del, XM_011522081.3:c.223_225del, XM_011522081.2:c.223_225del, XM_011522081.1:c.223_225del, XM_024450075.2:c.223_225del, XM_024450075.1:c.223_225del, XM_024450074.2:c.223_225del, XM_024450074.1:c.223_225del, XM_024450073.2:c.223_225del, XM_024450073.1:c.223_225del, XM_017022620.2:c.223_225del, XM_017022620.1:c.223_225del, XM_017022621.2:c.223_225del, XM_017022621.1:c.223_225del, XM_024450076.2:c.223_225del, XM_024450076.1:c.223_225del, XM_047433108.1:c.223_225del, XM_047433119.1:c.223_225del, XM_047433110.1:c.223_225del, XM_047433113.1:c.223_225del, XM_047433121.1:c.223_225del, XM_047433125.1:c.223_225del, XM_047433109.1:c.223_225del, XM_047433129.1:c.223_225del, XM_047433116.1:c.223_225del, XM_047433111.1:c.223_225del, XM_047433106.1:c.223_225del, XM_047433118.1:c.223_225del, XM_047433124.1:c.223_225del, XM_047433114.1:c.223_225del, XM_047433123.1:c.223_225del, XM_047433115.1:c.223_225del, XM_047433126.1:c.223_225del, XM_047433133.1:c.223_225del, XM_047433112.1:c.223_225del, XM_047433127.1:c.223_225del, XM_047433107.1:c.223_225del, XM_047433122.1:c.223_225del, XM_047433137.1:c.223_225del, XM_047433130.1:c.223_225del, XM_047433120.1:c.223_225del, XM_047433117.1:c.223_225del, XM_047433128.1:c.223_225del, XM_047433132.1:c.223_225del, XM_047433134.1:c.223_225del, XM_047433136.1:c.223_225del, XM_047433135.1:c.223_225del, XM_047433138.1:c.223_225del, XM_047433139.1:c.223_225del, NP_001345280.1:p.Asp75del, NP_079242.2:p.Asp75del, NP_705871.1:p.Asp75del, NP_705870.1:p.Asp75del, NP_065909.1:p.Asp75del, NP_705869.1:p.Asp75del, NP_001185928.1:p.Asp75del, NP_001345281.1:p.Asp75del, NP_705872.1:p.Asp75del, XP_016878106.1:p.Asp75del, XP_011520377.1:p.Asp75del, XP_011520378.1:p.Asp75del, XP_011520379.1:p.Asp75del, XP_011520380.1:p.Asp75del, XP_011520381.1:p.Asp75del, XP_011520382.1:p.Asp75del, XP_011520383.1:p.Asp75del, XP_024305843.1:p.Asp75del, XP_024305842.1:p.Asp75del, XP_024305841.1:p.Asp75del, XP_016878109.1:p.Asp75del, XP_016878110.1:p.Asp75del, XP_024305844.1:p.Asp75del, XP_047289064.1:p.Asp75del, XP_047289075.1:p.Asp75del, XP_047289066.1:p.Asp75del, XP_047289069.1:p.Asp75del, XP_047289077.1:p.Asp75del, XP_047289081.1:p.Asp75del, XP_047289065.1:p.Asp75del, XP_047289085.1:p.Asp75del, XP_047289072.1:p.Asp75del, XP_047289067.1:p.Asp75del, XP_047289062.1:p.Asp75del, XP_047289074.1:p.Asp75del, XP_047289080.1:p.Asp75del, XP_047289070.1:p.Asp75del, XP_047289079.1:p.Asp75del, XP_047289071.1:p.Asp75del, XP_047289082.1:p.Asp75del, XP_047289089.1:p.Asp75del, XP_047289068.1:p.Asp75del, XP_047289083.1:p.Asp75del, XP_047289063.1:p.Asp75del, XP_047289078.1:p.Asp75del, XP_047289093.1:p.Asp75del, XP_047289086.1:p.Asp75del, XP_047289076.1:p.Asp75del, XP_047289073.1:p.Asp75del, XP_047289084.1:p.Asp75del, XP_047289088.1:p.Asp75del, XP_047289090.1:p.Asp75del, XP_047289092.1:p.Asp75del, XP_047289091.1:p.Asp75del, XP_047289094.1:p.Asp75del, XP_047289095.1:p.Asp75del

      3.

      rs1490366521 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        15:47770903 (GRCh38)
        15:48063100 (GRCh37)
        Canonical SPDI:
        NC_000015.10:47770902:T:G
        Gene:
        SEMA6D (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        G=0.000011/3 (TOPMED)
        HGVS:
        NC_000015.10:g.47770903T>G, NC_000015.9:g.48063100T>G, NG_029119.2:g.591698T>G, NM_001358351.3:c.2340T>G, NM_001358351.2:c.2340T>G, NM_001358351.1:c.2340T>G, NM_153618.2:c.2340T>G, NM_153618.1:c.2340T>G, NM_153617.2:c.2172T>G, NM_153617.1:c.2172T>G, NM_020858.2:c.2154T>G, NM_020858.1:c.2154T>G, NM_153616.2:c.2115T>G, NM_153616.1:c.2115T>G, NM_001198999.2:c.2154T>G, NM_001198999.1:c.2154T>G, NM_001358352.2:c.2379T>G, NM_001358352.1:c.2379T>G, NM_153619.1:c.*356T>G, XM_017022617.3:c.2379T>G, XM_017022617.2:c.2379T>G, XM_017022617.1:c.2379T>G, XM_011522075.3:c.2379T>G, XM_011522075.2:c.2379T>G, XM_011522075.1:c.2379T>G, XM_011522076.3:c.2322T>G, XM_011522076.2:c.2322T>G, XM_011522076.1:c.2322T>G, XM_011522077.3:c.2283T>G, XM_011522077.2:c.2283T>G, XM_011522077.1:c.2283T>G, XM_011522078.3:c.2211T>G, XM_011522078.2:c.2211T>G, XM_011522078.1:c.2211T>G, XM_011522079.3:c.2172T>G, XM_011522079.2:c.2172T>G, XM_011522079.1:c.2172T>G, XM_011522080.3:c.2154T>G, XM_011522080.2:c.2154T>G, XM_011522080.1:c.2154T>G, XM_011522081.3:c.2115T>G, XM_011522081.2:c.2115T>G, XM_011522081.1:c.2115T>G, XM_024450075.2:c.2379T>G, XM_024450075.1:c.2379T>G, XM_024450074.2:c.2379T>G, XM_024450074.1:c.2379T>G, XM_024450073.2:c.2379T>G, XM_024450073.1:c.2379T>G, XM_017022620.2:c.2172T>G, XM_017022620.1:c.2172T>G, XM_017022621.2:c.2115T>G, XM_017022621.1:c.2115T>G, XM_024450076.2:c.2154T>G, XM_024450076.1:c.2154T>G, XM_047433108.1:c.2379T>G, XM_047433119.1:c.2340T>G, XM_047433110.1:c.2379T>G, XM_047433113.1:c.2379T>G, XM_047433121.1:c.2340T>G, XM_047433125.1:c.2322T>G, XM_047433109.1:c.2379T>G, XM_047433129.1:c.2283T>G, XM_047433116.1:c.2340T>G, XM_047433111.1:c.2379T>G, XM_047433106.1:c.2379T>G, XM_047433118.1:c.2340T>G, XM_047433124.1:c.2322T>G, XM_047433114.1:c.2340T>G, XM_047433123.1:c.2322T>G, XM_047433115.1:c.2340T>G, XM_047433126.1:c.2283T>G, XM_047433133.1:c.2172T>G, XM_047433112.1:c.2379T>G, XM_047433127.1:c.2283T>G, XM_047433107.1:c.2379T>G, XM_047433122.1:c.2340T>G, XM_047433137.1:c.2115T>G, XM_047433130.1:c.2211T>G, XM_047433120.1:c.2340T>G, XM_047433117.1:c.2340T>G, XM_047433128.1:c.2283T>G, XM_047433132.1:c.2172T>G, XM_047433134.1:c.2154T>G, XM_047433136.1:c.2115T>G, XM_047433135.1:c.2154T>G, XM_047433138.1:c.2115T>G, XM_047433139.1:c.2115T>G

        4.

        rs1490250990 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:47770572 (GRCh38)
          15:48062769 (GRCh37)
          Canonical SPDI:
          NC_000015.10:47770571:C:T
          Gene:
          SEMA6D (Varview)
          Functional Consequence:
          missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.47770572C>T, NC_000015.9:g.48062769C>T, NG_029119.2:g.591367C>T, NM_001358351.3:c.2009C>T, NM_001358351.2:c.2009C>T, NM_001358351.1:c.2009C>T, NM_153618.2:c.2009C>T, NM_153618.1:c.2009C>T, NM_153617.2:c.1841C>T, NM_153617.1:c.1841C>T, NM_020858.2:c.1823C>T, NM_020858.1:c.1823C>T, NM_153616.2:c.1784C>T, NM_153616.1:c.1784C>T, NM_001198999.2:c.1823C>T, NM_001198999.1:c.1823C>T, NM_001358352.2:c.2048C>T, NM_001358352.1:c.2048C>T, NM_153619.1:c.*25C>T, XM_017022617.3:c.2048C>T, XM_017022617.2:c.2048C>T, XM_017022617.1:c.2048C>T, XM_011522075.3:c.2048C>T, XM_011522075.2:c.2048C>T, XM_011522075.1:c.2048C>T, XM_011522076.3:c.1991C>T, XM_011522076.2:c.1991C>T, XM_011522076.1:c.1991C>T, XM_011522077.3:c.1952C>T, XM_011522077.2:c.1952C>T, XM_011522077.1:c.1952C>T, XM_011522078.3:c.1880C>T, XM_011522078.2:c.1880C>T, XM_011522078.1:c.1880C>T, XM_011522079.3:c.1841C>T, XM_011522079.2:c.1841C>T, XM_011522079.1:c.1841C>T, XM_011522080.3:c.1823C>T, XM_011522080.2:c.1823C>T, XM_011522080.1:c.1823C>T, XM_011522081.3:c.1784C>T, XM_011522081.2:c.1784C>T, XM_011522081.1:c.1784C>T, XM_024450075.2:c.2048C>T, XM_024450075.1:c.2048C>T, XM_024450074.2:c.2048C>T, XM_024450074.1:c.2048C>T, XM_024450073.2:c.2048C>T, XM_024450073.1:c.2048C>T, XM_017022620.2:c.1841C>T, XM_017022620.1:c.1841C>T, XM_017022621.2:c.1784C>T, XM_017022621.1:c.1784C>T, XM_024450076.2:c.1823C>T, XM_024450076.1:c.1823C>T, XM_047433108.1:c.2048C>T, XM_047433119.1:c.2009C>T, XM_047433110.1:c.2048C>T, XM_047433113.1:c.2048C>T, XM_047433121.1:c.2009C>T, XM_047433125.1:c.1991C>T, XM_047433109.1:c.2048C>T, XM_047433129.1:c.1952C>T, XM_047433116.1:c.2009C>T, XM_047433111.1:c.2048C>T, XM_047433106.1:c.2048C>T, XM_047433118.1:c.2009C>T, XM_047433124.1:c.1991C>T, XM_047433114.1:c.2009C>T, XM_047433123.1:c.1991C>T, XM_047433115.1:c.2009C>T, XM_047433126.1:c.1952C>T, XM_047433133.1:c.1841C>T, XM_047433112.1:c.2048C>T, XM_047433127.1:c.1952C>T, XM_047433107.1:c.2048C>T, XM_047433122.1:c.2009C>T, XM_047433137.1:c.1784C>T, XM_047433130.1:c.1880C>T, XM_047433120.1:c.2009C>T, XM_047433117.1:c.2009C>T, XM_047433128.1:c.1952C>T, XM_047433132.1:c.1841C>T, XM_047433134.1:c.1823C>T, XM_047433136.1:c.1784C>T, XM_047433135.1:c.1823C>T, XM_047433138.1:c.1784C>T, XM_047433139.1:c.1784C>T, NP_001345280.1:p.Ala670Val, NP_705871.1:p.Ala670Val, NP_705870.1:p.Ala614Val, NP_065909.1:p.Ala608Val, NP_705869.1:p.Ala595Val, NP_001185928.1:p.Ala608Val, NP_001345281.1:p.Ala683Val, XP_016878106.1:p.Ala683Val, XP_011520377.1:p.Ala683Val, XP_011520378.1:p.Ala664Val, XP_011520379.1:p.Ala651Val, XP_011520380.1:p.Ala627Val, XP_011520381.1:p.Ala614Val, XP_011520382.1:p.Ala608Val, XP_011520383.1:p.Ala595Val, XP_024305843.1:p.Ala683Val, XP_024305842.1:p.Ala683Val, XP_024305841.1:p.Ala683Val, XP_016878109.1:p.Ala614Val, XP_016878110.1:p.Ala595Val, XP_024305844.1:p.Ala608Val, XP_047289064.1:p.Ala683Val, XP_047289075.1:p.Ala670Val, XP_047289066.1:p.Ala683Val, XP_047289069.1:p.Ala683Val, XP_047289077.1:p.Ala670Val, XP_047289081.1:p.Ala664Val, XP_047289065.1:p.Ala683Val, XP_047289085.1:p.Ala651Val, XP_047289072.1:p.Ala670Val, XP_047289067.1:p.Ala683Val, XP_047289062.1:p.Ala683Val, XP_047289074.1:p.Ala670Val, XP_047289080.1:p.Ala664Val, XP_047289070.1:p.Ala670Val, XP_047289079.1:p.Ala664Val, XP_047289071.1:p.Ala670Val, XP_047289082.1:p.Ala651Val, XP_047289089.1:p.Ala614Val, XP_047289068.1:p.Ala683Val, XP_047289083.1:p.Ala651Val, XP_047289063.1:p.Ala683Val, XP_047289078.1:p.Ala670Val, XP_047289093.1:p.Ala595Val, XP_047289086.1:p.Ala627Val, XP_047289076.1:p.Ala670Val, XP_047289073.1:p.Ala670Val, XP_047289084.1:p.Ala651Val, XP_047289088.1:p.Ala614Val, XP_047289090.1:p.Ala608Val, XP_047289092.1:p.Ala595Val, XP_047289091.1:p.Ala608Val, XP_047289094.1:p.Ala595Val, XP_047289095.1:p.Ala595Val

          5.

          rs1489226576 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            15:47761731 (GRCh38)
            15:48053928 (GRCh37)
            Canonical SPDI:
            NC_000015.10:47761730:C:G
            Gene:
            SEMA6D (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.47761731C>G, NC_000015.9:g.48053928C>G, NG_029119.2:g.582526C>G, NM_001358351.3:c.518C>G, NM_001358351.2:c.518C>G, NM_001358351.1:c.518C>G, NM_024966.3:c.518C>G, NM_024966.2:c.518C>G, NM_153618.2:c.518C>G, NM_153618.1:c.518C>G, NM_153617.2:c.518C>G, NM_153617.1:c.518C>G, NM_020858.2:c.518C>G, NM_020858.1:c.518C>G, NM_153616.2:c.518C>G, NM_153616.1:c.518C>G, NM_001198999.2:c.518C>G, NM_001198999.1:c.518C>G, NM_001358352.2:c.518C>G, NM_001358352.1:c.518C>G, NM_153619.1:c.518C>G, XM_017022617.3:c.518C>G, XM_017022617.2:c.518C>G, XM_017022617.1:c.518C>G, XM_011522075.3:c.518C>G, XM_011522075.2:c.518C>G, XM_011522075.1:c.518C>G, XM_011522076.3:c.518C>G, XM_011522076.2:c.518C>G, XM_011522076.1:c.518C>G, XM_011522077.3:c.518C>G, XM_011522077.2:c.518C>G, XM_011522077.1:c.518C>G, XM_011522078.3:c.518C>G, XM_011522078.2:c.518C>G, XM_011522078.1:c.518C>G, XM_011522079.3:c.518C>G, XM_011522079.2:c.518C>G, XM_011522079.1:c.518C>G, XM_011522080.3:c.518C>G, XM_011522080.2:c.518C>G, XM_011522080.1:c.518C>G, XM_011522081.3:c.518C>G, XM_011522081.2:c.518C>G, XM_011522081.1:c.518C>G, XM_024450075.2:c.518C>G, XM_024450075.1:c.518C>G, XM_024450074.2:c.518C>G, XM_024450074.1:c.518C>G, XM_024450073.2:c.518C>G, XM_024450073.1:c.518C>G, XM_017022620.2:c.518C>G, XM_017022620.1:c.518C>G, XM_017022621.2:c.518C>G, XM_017022621.1:c.518C>G, XM_024450076.2:c.518C>G, XM_024450076.1:c.518C>G, XM_047433108.1:c.518C>G, XM_047433119.1:c.518C>G, XM_047433110.1:c.518C>G, XM_047433113.1:c.518C>G, XM_047433121.1:c.518C>G, XM_047433125.1:c.518C>G, XM_047433109.1:c.518C>G, XM_047433129.1:c.518C>G, XM_047433116.1:c.518C>G, XM_047433111.1:c.518C>G, XM_047433106.1:c.518C>G, XM_047433118.1:c.518C>G, XM_047433124.1:c.518C>G, XM_047433114.1:c.518C>G, XM_047433123.1:c.518C>G, XM_047433115.1:c.518C>G, XM_047433126.1:c.518C>G, XM_047433133.1:c.518C>G, XM_047433112.1:c.518C>G, XM_047433127.1:c.518C>G, XM_047433107.1:c.518C>G, XM_047433122.1:c.518C>G, XM_047433137.1:c.518C>G, XM_047433130.1:c.518C>G, XM_047433120.1:c.518C>G, XM_047433117.1:c.518C>G, XM_047433128.1:c.518C>G, XM_047433132.1:c.518C>G, XM_047433134.1:c.518C>G, XM_047433136.1:c.518C>G, XM_047433135.1:c.518C>G, XM_047433138.1:c.518C>G, XM_047433139.1:c.518C>G, NP_001345280.1:p.Thr173Ser, NP_079242.2:p.Thr173Ser, NP_705871.1:p.Thr173Ser, NP_705870.1:p.Thr173Ser, NP_065909.1:p.Thr173Ser, NP_705869.1:p.Thr173Ser, NP_001185928.1:p.Thr173Ser, NP_001345281.1:p.Thr173Ser, NP_705872.1:p.Thr173Ser, XP_016878106.1:p.Thr173Ser, XP_011520377.1:p.Thr173Ser, XP_011520378.1:p.Thr173Ser, XP_011520379.1:p.Thr173Ser, XP_011520380.1:p.Thr173Ser, XP_011520381.1:p.Thr173Ser, XP_011520382.1:p.Thr173Ser, XP_011520383.1:p.Thr173Ser, XP_024305843.1:p.Thr173Ser, XP_024305842.1:p.Thr173Ser, XP_024305841.1:p.Thr173Ser, XP_016878109.1:p.Thr173Ser, XP_016878110.1:p.Thr173Ser, XP_024305844.1:p.Thr173Ser, XP_047289064.1:p.Thr173Ser, XP_047289075.1:p.Thr173Ser, XP_047289066.1:p.Thr173Ser, XP_047289069.1:p.Thr173Ser, XP_047289077.1:p.Thr173Ser, XP_047289081.1:p.Thr173Ser, XP_047289065.1:p.Thr173Ser, XP_047289085.1:p.Thr173Ser, XP_047289072.1:p.Thr173Ser, XP_047289067.1:p.Thr173Ser, XP_047289062.1:p.Thr173Ser, XP_047289074.1:p.Thr173Ser, XP_047289080.1:p.Thr173Ser, XP_047289070.1:p.Thr173Ser, XP_047289079.1:p.Thr173Ser, XP_047289071.1:p.Thr173Ser, XP_047289082.1:p.Thr173Ser, XP_047289089.1:p.Thr173Ser, XP_047289068.1:p.Thr173Ser, XP_047289083.1:p.Thr173Ser, XP_047289063.1:p.Thr173Ser, XP_047289078.1:p.Thr173Ser, XP_047289093.1:p.Thr173Ser, XP_047289086.1:p.Thr173Ser, XP_047289076.1:p.Thr173Ser, XP_047289073.1:p.Thr173Ser, XP_047289084.1:p.Thr173Ser, XP_047289088.1:p.Thr173Ser, XP_047289090.1:p.Thr173Ser, XP_047289092.1:p.Thr173Ser, XP_047289091.1:p.Thr173Ser, XP_047289094.1:p.Thr173Ser, XP_047289095.1:p.Thr173Ser

            6.

            rs1489067834 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:47771718 (GRCh38)
              15:48063915 (GRCh37)
              Canonical SPDI:
              NC_000015.10:47771717:T:C
              Gene:
              SEMA6D (Varview)
              Functional Consequence:
              missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000015.10:g.47771718T>C, NC_000015.9:g.48063915T>C, NG_029119.2:g.592513T>C, NM_001358351.3:c.3155T>C, NM_001358351.2:c.3155T>C, NM_001358351.1:c.3155T>C, NM_153618.2:c.3155T>C, NM_153618.1:c.3155T>C, NM_153617.2:c.2987T>C, NM_153617.1:c.2987T>C, NM_020858.2:c.2969T>C, NM_020858.1:c.2969T>C, NM_153616.2:c.2930T>C, NM_153616.1:c.2930T>C, NM_001198999.2:c.2969T>C, NM_001198999.1:c.2969T>C, NM_001358352.2:c.3194T>C, NM_001358352.1:c.3194T>C, NM_153619.1:c.*1171T>C, XM_017022617.3:c.3194T>C, XM_017022617.2:c.3194T>C, XM_017022617.1:c.3194T>C, XM_011522075.3:c.3194T>C, XM_011522075.2:c.3194T>C, XM_011522075.1:c.3194T>C, XM_011522076.3:c.3137T>C, XM_011522076.2:c.3137T>C, XM_011522076.1:c.3137T>C, XM_011522077.3:c.3098T>C, XM_011522077.2:c.3098T>C, XM_011522077.1:c.3098T>C, XM_011522078.3:c.3026T>C, XM_011522078.2:c.3026T>C, XM_011522078.1:c.3026T>C, XM_011522079.3:c.2987T>C, XM_011522079.2:c.2987T>C, XM_011522079.1:c.2987T>C, XM_011522080.3:c.2969T>C, XM_011522080.2:c.2969T>C, XM_011522080.1:c.2969T>C, XM_011522081.3:c.2930T>C, XM_011522081.2:c.2930T>C, XM_011522081.1:c.2930T>C, XM_024450075.2:c.3194T>C, XM_024450075.1:c.3194T>C, XM_024450074.2:c.3194T>C, XM_024450074.1:c.3194T>C, XM_024450073.2:c.3194T>C, XM_024450073.1:c.3194T>C, XM_017022620.2:c.2987T>C, XM_017022620.1:c.2987T>C, XM_017022621.2:c.2930T>C, XM_017022621.1:c.2930T>C, XM_024450076.2:c.2969T>C, XM_024450076.1:c.2969T>C, XM_047433108.1:c.3194T>C, XM_047433119.1:c.3155T>C, XM_047433110.1:c.3194T>C, XM_047433113.1:c.3194T>C, XM_047433121.1:c.3155T>C, XM_047433125.1:c.3137T>C, XM_047433109.1:c.3194T>C, XM_047433129.1:c.3098T>C, XM_047433116.1:c.3155T>C, XM_047433111.1:c.3194T>C, XM_047433106.1:c.3194T>C, XM_047433118.1:c.3155T>C, XM_047433124.1:c.3137T>C, XM_047433114.1:c.3155T>C, XM_047433123.1:c.3137T>C, XM_047433115.1:c.3155T>C, XM_047433126.1:c.3098T>C, XM_047433133.1:c.2987T>C, XM_047433112.1:c.3194T>C, XM_047433127.1:c.3098T>C, XM_047433107.1:c.3194T>C, XM_047433122.1:c.3155T>C, XM_047433137.1:c.2930T>C, XM_047433130.1:c.3026T>C, XM_047433120.1:c.3155T>C, XM_047433117.1:c.3155T>C, XM_047433128.1:c.3098T>C, XM_047433132.1:c.2987T>C, XM_047433134.1:c.2969T>C, XM_047433136.1:c.2930T>C, XM_047433135.1:c.2969T>C, XM_047433138.1:c.2930T>C, XM_047433139.1:c.2930T>C, NP_001345280.1:p.Val1052Ala, NP_705871.1:p.Val1052Ala, NP_705870.1:p.Val996Ala, NP_065909.1:p.Val990Ala, NP_705869.1:p.Val977Ala, NP_001185928.1:p.Val990Ala, NP_001345281.1:p.Val1065Ala, XP_016878106.1:p.Val1065Ala, XP_011520377.1:p.Val1065Ala, XP_011520378.1:p.Val1046Ala, XP_011520379.1:p.Val1033Ala, XP_011520380.1:p.Val1009Ala, XP_011520381.1:p.Val996Ala, XP_011520382.1:p.Val990Ala, XP_011520383.1:p.Val977Ala, XP_024305843.1:p.Val1065Ala, XP_024305842.1:p.Val1065Ala, XP_024305841.1:p.Val1065Ala, XP_016878109.1:p.Val996Ala, XP_016878110.1:p.Val977Ala, XP_024305844.1:p.Val990Ala, XP_047289064.1:p.Val1065Ala, XP_047289075.1:p.Val1052Ala, XP_047289066.1:p.Val1065Ala, XP_047289069.1:p.Val1065Ala, XP_047289077.1:p.Val1052Ala, XP_047289081.1:p.Val1046Ala, XP_047289065.1:p.Val1065Ala, XP_047289085.1:p.Val1033Ala, XP_047289072.1:p.Val1052Ala, XP_047289067.1:p.Val1065Ala, XP_047289062.1:p.Val1065Ala, XP_047289074.1:p.Val1052Ala, XP_047289080.1:p.Val1046Ala, XP_047289070.1:p.Val1052Ala, XP_047289079.1:p.Val1046Ala, XP_047289071.1:p.Val1052Ala, XP_047289082.1:p.Val1033Ala, XP_047289089.1:p.Val996Ala, XP_047289068.1:p.Val1065Ala, XP_047289083.1:p.Val1033Ala, XP_047289063.1:p.Val1065Ala, XP_047289078.1:p.Val1052Ala, XP_047289093.1:p.Val977Ala, XP_047289086.1:p.Val1009Ala, XP_047289076.1:p.Val1052Ala, XP_047289073.1:p.Val1052Ala, XP_047289084.1:p.Val1033Ala, XP_047289088.1:p.Val996Ala, XP_047289090.1:p.Val990Ala, XP_047289092.1:p.Val977Ala, XP_047289091.1:p.Val990Ala, XP_047289094.1:p.Val977Ala, XP_047289095.1:p.Val977Ala

              7.

              rs1488901830 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:47759873 (GRCh38)
                15:48052070 (GRCh37)
                Canonical SPDI:
                NC_000015.10:47759872:A:G
                Gene:
                SEMA6D (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000015.10:g.47759873A>G, NC_000015.9:g.48052070A>G, NG_029119.2:g.580668A>G, NM_001358351.3:c.75A>G, NM_001358351.2:c.75A>G, NM_001358351.1:c.75A>G, NM_024966.3:c.75A>G, NM_024966.2:c.75A>G, NM_153618.2:c.75A>G, NM_153618.1:c.75A>G, NM_153617.2:c.75A>G, NM_153617.1:c.75A>G, NM_020858.2:c.75A>G, NM_020858.1:c.75A>G, NM_153616.2:c.75A>G, NM_153616.1:c.75A>G, NM_001198999.2:c.75A>G, NM_001198999.1:c.75A>G, NM_001358352.2:c.75A>G, NM_001358352.1:c.75A>G, NM_153619.1:c.75A>G, XM_017022617.3:c.75A>G, XM_017022617.2:c.75A>G, XM_017022617.1:c.75A>G, XM_011522075.3:c.75A>G, XM_011522075.2:c.75A>G, XM_011522075.1:c.75A>G, XM_011522076.3:c.75A>G, XM_011522076.2:c.75A>G, XM_011522076.1:c.75A>G, XM_011522077.3:c.75A>G, XM_011522077.2:c.75A>G, XM_011522077.1:c.75A>G, XM_011522078.3:c.75A>G, XM_011522078.2:c.75A>G, XM_011522078.1:c.75A>G, XM_011522079.3:c.75A>G, XM_011522079.2:c.75A>G, XM_011522079.1:c.75A>G, XM_011522080.3:c.75A>G, XM_011522080.2:c.75A>G, XM_011522080.1:c.75A>G, XM_011522081.3:c.75A>G, XM_011522081.2:c.75A>G, XM_011522081.1:c.75A>G, XM_024450075.2:c.75A>G, XM_024450075.1:c.75A>G, XM_024450074.2:c.75A>G, XM_024450074.1:c.75A>G, XM_024450073.2:c.75A>G, XM_024450073.1:c.75A>G, XM_017022620.2:c.75A>G, XM_017022620.1:c.75A>G, XM_017022621.2:c.75A>G, XM_017022621.1:c.75A>G, XM_024450076.2:c.75A>G, XM_024450076.1:c.75A>G, XM_047433108.1:c.75A>G, XM_047433119.1:c.75A>G, XM_047433110.1:c.75A>G, XM_047433113.1:c.75A>G, XM_047433121.1:c.75A>G, XM_047433125.1:c.75A>G, XM_047433109.1:c.75A>G, XM_047433129.1:c.75A>G, XM_047433116.1:c.75A>G, XM_047433111.1:c.75A>G, XM_047433106.1:c.75A>G, XM_047433118.1:c.75A>G, XM_047433124.1:c.75A>G, XM_047433114.1:c.75A>G, XM_047433123.1:c.75A>G, XM_047433115.1:c.75A>G, XM_047433126.1:c.75A>G, XM_047433133.1:c.75A>G, XM_047433112.1:c.75A>G, XM_047433127.1:c.75A>G, XM_047433107.1:c.75A>G, XM_047433122.1:c.75A>G, XM_047433137.1:c.75A>G, XM_047433130.1:c.75A>G, XM_047433120.1:c.75A>G, XM_047433117.1:c.75A>G, XM_047433128.1:c.75A>G, XM_047433132.1:c.75A>G, XM_047433134.1:c.75A>G, XM_047433136.1:c.75A>G, XM_047433135.1:c.75A>G, XM_047433138.1:c.75A>G, XM_047433139.1:c.75A>G

                8.

                rs1487120032 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:47764966 (GRCh38)
                  15:48057163 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:47764965:G:A
                  Gene:
                  SEMA6D (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000015.10:g.47764966G>A, NC_000015.9:g.48057163G>A, NG_029119.2:g.585761G>A, NM_001358351.3:c.1337G>A, NM_001358351.2:c.1337G>A, NM_001358351.1:c.1337G>A, NM_024966.3:c.1337G>A, NM_024966.2:c.1337G>A, NM_153618.2:c.1337G>A, NM_153618.1:c.1337G>A, NM_153617.2:c.1337G>A, NM_153617.1:c.1337G>A, NM_020858.2:c.1337G>A, NM_020858.1:c.1337G>A, NM_153616.2:c.1337G>A, NM_153616.1:c.1337G>A, NM_001198999.2:c.1337G>A, NM_001198999.1:c.1337G>A, NM_001358352.2:c.1337G>A, NM_001358352.1:c.1337G>A, NM_153619.1:c.1337G>A, XM_017022617.3:c.1337G>A, XM_017022617.2:c.1337G>A, XM_017022617.1:c.1337G>A, XM_011522075.3:c.1337G>A, XM_011522075.2:c.1337G>A, XM_011522075.1:c.1337G>A, XM_011522076.3:c.1337G>A, XM_011522076.2:c.1337G>A, XM_011522076.1:c.1337G>A, XM_011522077.3:c.1337G>A, XM_011522077.2:c.1337G>A, XM_011522077.1:c.1337G>A, XM_011522078.3:c.1337G>A, XM_011522078.2:c.1337G>A, XM_011522078.1:c.1337G>A, XM_011522079.3:c.1337G>A, XM_011522079.2:c.1337G>A, XM_011522079.1:c.1337G>A, XM_011522080.3:c.1337G>A, XM_011522080.2:c.1337G>A, XM_011522080.1:c.1337G>A, XM_011522081.3:c.1337G>A, XM_011522081.2:c.1337G>A, XM_011522081.1:c.1337G>A, XM_024450075.2:c.1337G>A, XM_024450075.1:c.1337G>A, XM_024450074.2:c.1337G>A, XM_024450074.1:c.1337G>A, XM_024450073.2:c.1337G>A, XM_024450073.1:c.1337G>A, XM_017022620.2:c.1337G>A, XM_017022620.1:c.1337G>A, XM_017022621.2:c.1337G>A, XM_017022621.1:c.1337G>A, XM_024450076.2:c.1337G>A, XM_024450076.1:c.1337G>A, XM_047433108.1:c.1337G>A, XM_047433119.1:c.1337G>A, XM_047433110.1:c.1337G>A, XM_047433113.1:c.1337G>A, XM_047433121.1:c.1337G>A, XM_047433125.1:c.1337G>A, XM_047433109.1:c.1337G>A, XM_047433129.1:c.1337G>A, XM_047433116.1:c.1337G>A, XM_047433111.1:c.1337G>A, XM_047433106.1:c.1337G>A, XM_047433118.1:c.1337G>A, XM_047433124.1:c.1337G>A, XM_047433114.1:c.1337G>A, XM_047433123.1:c.1337G>A, XM_047433115.1:c.1337G>A, XM_047433126.1:c.1337G>A, XM_047433133.1:c.1337G>A, XM_047433112.1:c.1337G>A, XM_047433127.1:c.1337G>A, XM_047433107.1:c.1337G>A, XM_047433122.1:c.1337G>A, XM_047433137.1:c.1337G>A, XM_047433130.1:c.1337G>A, XM_047433120.1:c.1337G>A, XM_047433117.1:c.1337G>A, XM_047433128.1:c.1337G>A, XM_047433132.1:c.1337G>A, XM_047433134.1:c.1337G>A, XM_047433136.1:c.1337G>A, XM_047433135.1:c.1337G>A, XM_047433138.1:c.1337G>A, XM_047433139.1:c.1337G>A, NP_001345280.1:p.Gly446Asp, NP_079242.2:p.Gly446Asp, NP_705871.1:p.Gly446Asp, NP_705870.1:p.Gly446Asp, NP_065909.1:p.Gly446Asp, NP_705869.1:p.Gly446Asp, NP_001185928.1:p.Gly446Asp, NP_001345281.1:p.Gly446Asp, NP_705872.1:p.Gly446Asp, XP_016878106.1:p.Gly446Asp, XP_011520377.1:p.Gly446Asp, XP_011520378.1:p.Gly446Asp, XP_011520379.1:p.Gly446Asp, XP_011520380.1:p.Gly446Asp, XP_011520381.1:p.Gly446Asp, XP_011520382.1:p.Gly446Asp, XP_011520383.1:p.Gly446Asp, XP_024305843.1:p.Gly446Asp, XP_024305842.1:p.Gly446Asp, XP_024305841.1:p.Gly446Asp, XP_016878109.1:p.Gly446Asp, XP_016878110.1:p.Gly446Asp, XP_024305844.1:p.Gly446Asp, XP_047289064.1:p.Gly446Asp, XP_047289075.1:p.Gly446Asp, XP_047289066.1:p.Gly446Asp, XP_047289069.1:p.Gly446Asp, XP_047289077.1:p.Gly446Asp, XP_047289081.1:p.Gly446Asp, XP_047289065.1:p.Gly446Asp, XP_047289085.1:p.Gly446Asp, XP_047289072.1:p.Gly446Asp, XP_047289067.1:p.Gly446Asp, XP_047289062.1:p.Gly446Asp, XP_047289074.1:p.Gly446Asp, XP_047289080.1:p.Gly446Asp, XP_047289070.1:p.Gly446Asp, XP_047289079.1:p.Gly446Asp, XP_047289071.1:p.Gly446Asp, XP_047289082.1:p.Gly446Asp, XP_047289089.1:p.Gly446Asp, XP_047289068.1:p.Gly446Asp, XP_047289083.1:p.Gly446Asp, XP_047289063.1:p.Gly446Asp, XP_047289078.1:p.Gly446Asp, XP_047289093.1:p.Gly446Asp, XP_047289086.1:p.Gly446Asp, XP_047289076.1:p.Gly446Asp, XP_047289073.1:p.Gly446Asp, XP_047289084.1:p.Gly446Asp, XP_047289088.1:p.Gly446Asp, XP_047289090.1:p.Gly446Asp, XP_047289092.1:p.Gly446Asp, XP_047289091.1:p.Gly446Asp, XP_047289094.1:p.Gly446Asp, XP_047289095.1:p.Gly446Asp

                  9.

                  rs1485941008 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    15:47764040 (GRCh38)
                    15:48056237 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:47764039:T:G
                    Gene:
                    SEMA6D (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.47764040T>G, NC_000015.9:g.48056237T>G, NG_029119.2:g.584835T>G, NM_001358351.3:c.938T>G, NM_001358351.2:c.938T>G, NM_001358351.1:c.938T>G, NM_024966.3:c.938T>G, NM_024966.2:c.938T>G, NM_153618.2:c.938T>G, NM_153618.1:c.938T>G, NM_153617.2:c.938T>G, NM_153617.1:c.938T>G, NM_020858.2:c.938T>G, NM_020858.1:c.938T>G, NM_153616.2:c.938T>G, NM_153616.1:c.938T>G, NM_001198999.2:c.938T>G, NM_001198999.1:c.938T>G, NM_001358352.2:c.938T>G, NM_001358352.1:c.938T>G, NM_153619.1:c.938T>G, XM_017022617.3:c.938T>G, XM_017022617.2:c.938T>G, XM_017022617.1:c.938T>G, XM_011522075.3:c.938T>G, XM_011522075.2:c.938T>G, XM_011522075.1:c.938T>G, XM_011522076.3:c.938T>G, XM_011522076.2:c.938T>G, XM_011522076.1:c.938T>G, XM_011522077.3:c.938T>G, XM_011522077.2:c.938T>G, XM_011522077.1:c.938T>G, XM_011522078.3:c.938T>G, XM_011522078.2:c.938T>G, XM_011522078.1:c.938T>G, XM_011522079.3:c.938T>G, XM_011522079.2:c.938T>G, XM_011522079.1:c.938T>G, XM_011522080.3:c.938T>G, XM_011522080.2:c.938T>G, XM_011522080.1:c.938T>G, XM_011522081.3:c.938T>G, XM_011522081.2:c.938T>G, XM_011522081.1:c.938T>G, XM_024450075.2:c.938T>G, XM_024450075.1:c.938T>G, XM_024450074.2:c.938T>G, XM_024450074.1:c.938T>G, XM_024450073.2:c.938T>G, XM_024450073.1:c.938T>G, XM_017022620.2:c.938T>G, XM_017022620.1:c.938T>G, XM_017022621.2:c.938T>G, XM_017022621.1:c.938T>G, XM_024450076.2:c.938T>G, XM_024450076.1:c.938T>G, XM_047433108.1:c.938T>G, XM_047433119.1:c.938T>G, XM_047433110.1:c.938T>G, XM_047433113.1:c.938T>G, XM_047433121.1:c.938T>G, XM_047433125.1:c.938T>G, XM_047433109.1:c.938T>G, XM_047433129.1:c.938T>G, XM_047433116.1:c.938T>G, XM_047433111.1:c.938T>G, XM_047433106.1:c.938T>G, XM_047433118.1:c.938T>G, XM_047433124.1:c.938T>G, XM_047433114.1:c.938T>G, XM_047433123.1:c.938T>G, XM_047433115.1:c.938T>G, XM_047433126.1:c.938T>G, XM_047433133.1:c.938T>G, XM_047433112.1:c.938T>G, XM_047433127.1:c.938T>G, XM_047433107.1:c.938T>G, XM_047433122.1:c.938T>G, XM_047433137.1:c.938T>G, XM_047433130.1:c.938T>G, XM_047433120.1:c.938T>G, XM_047433117.1:c.938T>G, XM_047433128.1:c.938T>G, XM_047433132.1:c.938T>G, XM_047433134.1:c.938T>G, XM_047433136.1:c.938T>G, XM_047433135.1:c.938T>G, XM_047433138.1:c.938T>G, XM_047433139.1:c.938T>G, NP_001345280.1:p.Val313Gly, NP_079242.2:p.Val313Gly, NP_705871.1:p.Val313Gly, NP_705870.1:p.Val313Gly, NP_065909.1:p.Val313Gly, NP_705869.1:p.Val313Gly, NP_001185928.1:p.Val313Gly, NP_001345281.1:p.Val313Gly, NP_705872.1:p.Val313Gly, XP_016878106.1:p.Val313Gly, XP_011520377.1:p.Val313Gly, XP_011520378.1:p.Val313Gly, XP_011520379.1:p.Val313Gly, XP_011520380.1:p.Val313Gly, XP_011520381.1:p.Val313Gly, XP_011520382.1:p.Val313Gly, XP_011520383.1:p.Val313Gly, XP_024305843.1:p.Val313Gly, XP_024305842.1:p.Val313Gly, XP_024305841.1:p.Val313Gly, XP_016878109.1:p.Val313Gly, XP_016878110.1:p.Val313Gly, XP_024305844.1:p.Val313Gly, XP_047289064.1:p.Val313Gly, XP_047289075.1:p.Val313Gly, XP_047289066.1:p.Val313Gly, XP_047289069.1:p.Val313Gly, XP_047289077.1:p.Val313Gly, XP_047289081.1:p.Val313Gly, XP_047289065.1:p.Val313Gly, XP_047289085.1:p.Val313Gly, XP_047289072.1:p.Val313Gly, XP_047289067.1:p.Val313Gly, XP_047289062.1:p.Val313Gly, XP_047289074.1:p.Val313Gly, XP_047289080.1:p.Val313Gly, XP_047289070.1:p.Val313Gly, XP_047289079.1:p.Val313Gly, XP_047289071.1:p.Val313Gly, XP_047289082.1:p.Val313Gly, XP_047289089.1:p.Val313Gly, XP_047289068.1:p.Val313Gly, XP_047289083.1:p.Val313Gly, XP_047289063.1:p.Val313Gly, XP_047289078.1:p.Val313Gly, XP_047289093.1:p.Val313Gly, XP_047289086.1:p.Val313Gly, XP_047289076.1:p.Val313Gly, XP_047289073.1:p.Val313Gly, XP_047289084.1:p.Val313Gly, XP_047289088.1:p.Val313Gly, XP_047289090.1:p.Val313Gly, XP_047289092.1:p.Val313Gly, XP_047289091.1:p.Val313Gly, XP_047289094.1:p.Val313Gly, XP_047289095.1:p.Val313Gly

                    10.

                    rs1485615504 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      15:47763043 (GRCh38)
                      15:48055240 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:47763042:A:G
                      Gene:
                      SEMA6D (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.47763043A>G, NC_000015.9:g.48055240A>G, NG_029119.2:g.583838A>G, NM_001358351.3:c.686A>G, NM_001358351.2:c.686A>G, NM_001358351.1:c.686A>G, NM_024966.3:c.686A>G, NM_024966.2:c.686A>G, NM_153618.2:c.686A>G, NM_153618.1:c.686A>G, NM_153617.2:c.686A>G, NM_153617.1:c.686A>G, NM_020858.2:c.686A>G, NM_020858.1:c.686A>G, NM_153616.2:c.686A>G, NM_153616.1:c.686A>G, NM_001198999.2:c.686A>G, NM_001198999.1:c.686A>G, NM_001358352.2:c.686A>G, NM_001358352.1:c.686A>G, NM_153619.1:c.686A>G, XM_017022617.3:c.686A>G, XM_017022617.2:c.686A>G, XM_017022617.1:c.686A>G, XM_011522075.3:c.686A>G, XM_011522075.2:c.686A>G, XM_011522075.1:c.686A>G, XM_011522076.3:c.686A>G, XM_011522076.2:c.686A>G, XM_011522076.1:c.686A>G, XM_011522077.3:c.686A>G, XM_011522077.2:c.686A>G, XM_011522077.1:c.686A>G, XM_011522078.3:c.686A>G, XM_011522078.2:c.686A>G, XM_011522078.1:c.686A>G, XM_011522079.3:c.686A>G, XM_011522079.2:c.686A>G, XM_011522079.1:c.686A>G, XM_011522080.3:c.686A>G, XM_011522080.2:c.686A>G, XM_011522080.1:c.686A>G, XM_011522081.3:c.686A>G, XM_011522081.2:c.686A>G, XM_011522081.1:c.686A>G, XM_024450075.2:c.686A>G, XM_024450075.1:c.686A>G, XM_024450074.2:c.686A>G, XM_024450074.1:c.686A>G, XM_024450073.2:c.686A>G, XM_024450073.1:c.686A>G, XM_017022620.2:c.686A>G, XM_017022620.1:c.686A>G, XM_017022621.2:c.686A>G, XM_017022621.1:c.686A>G, XM_024450076.2:c.686A>G, XM_024450076.1:c.686A>G, XM_047433108.1:c.686A>G, XM_047433119.1:c.686A>G, XM_047433110.1:c.686A>G, XM_047433113.1:c.686A>G, XM_047433121.1:c.686A>G, XM_047433125.1:c.686A>G, XM_047433109.1:c.686A>G, XM_047433129.1:c.686A>G, XM_047433116.1:c.686A>G, XM_047433111.1:c.686A>G, XM_047433106.1:c.686A>G, XM_047433118.1:c.686A>G, XM_047433124.1:c.686A>G, XM_047433114.1:c.686A>G, XM_047433123.1:c.686A>G, XM_047433115.1:c.686A>G, XM_047433126.1:c.686A>G, XM_047433133.1:c.686A>G, XM_047433112.1:c.686A>G, XM_047433127.1:c.686A>G, XM_047433107.1:c.686A>G, XM_047433122.1:c.686A>G, XM_047433137.1:c.686A>G, XM_047433130.1:c.686A>G, XM_047433120.1:c.686A>G, XM_047433117.1:c.686A>G, XM_047433128.1:c.686A>G, XM_047433132.1:c.686A>G, XM_047433134.1:c.686A>G, XM_047433136.1:c.686A>G, XM_047433135.1:c.686A>G, XM_047433138.1:c.686A>G, XM_047433139.1:c.686A>G, NP_001345280.1:p.Tyr229Cys, NP_079242.2:p.Tyr229Cys, NP_705871.1:p.Tyr229Cys, NP_705870.1:p.Tyr229Cys, NP_065909.1:p.Tyr229Cys, NP_705869.1:p.Tyr229Cys, NP_001185928.1:p.Tyr229Cys, NP_001345281.1:p.Tyr229Cys, NP_705872.1:p.Tyr229Cys, XP_016878106.1:p.Tyr229Cys, XP_011520377.1:p.Tyr229Cys, XP_011520378.1:p.Tyr229Cys, XP_011520379.1:p.Tyr229Cys, XP_011520380.1:p.Tyr229Cys, XP_011520381.1:p.Tyr229Cys, XP_011520382.1:p.Tyr229Cys, XP_011520383.1:p.Tyr229Cys, XP_024305843.1:p.Tyr229Cys, XP_024305842.1:p.Tyr229Cys, XP_024305841.1:p.Tyr229Cys, XP_016878109.1:p.Tyr229Cys, XP_016878110.1:p.Tyr229Cys, XP_024305844.1:p.Tyr229Cys, XP_047289064.1:p.Tyr229Cys, XP_047289075.1:p.Tyr229Cys, XP_047289066.1:p.Tyr229Cys, XP_047289069.1:p.Tyr229Cys, XP_047289077.1:p.Tyr229Cys, XP_047289081.1:p.Tyr229Cys, XP_047289065.1:p.Tyr229Cys, XP_047289085.1:p.Tyr229Cys, XP_047289072.1:p.Tyr229Cys, XP_047289067.1:p.Tyr229Cys, XP_047289062.1:p.Tyr229Cys, XP_047289074.1:p.Tyr229Cys, XP_047289080.1:p.Tyr229Cys, XP_047289070.1:p.Tyr229Cys, XP_047289079.1:p.Tyr229Cys, XP_047289071.1:p.Tyr229Cys, XP_047289082.1:p.Tyr229Cys, XP_047289089.1:p.Tyr229Cys, XP_047289068.1:p.Tyr229Cys, XP_047289083.1:p.Tyr229Cys, XP_047289063.1:p.Tyr229Cys, XP_047289078.1:p.Tyr229Cys, XP_047289093.1:p.Tyr229Cys, XP_047289086.1:p.Tyr229Cys, XP_047289076.1:p.Tyr229Cys, XP_047289073.1:p.Tyr229Cys, XP_047289084.1:p.Tyr229Cys, XP_047289088.1:p.Tyr229Cys, XP_047289090.1:p.Tyr229Cys, XP_047289092.1:p.Tyr229Cys, XP_047289091.1:p.Tyr229Cys, XP_047289094.1:p.Tyr229Cys, XP_047289095.1:p.Tyr229Cys

                      11.

                      rs1485093912 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:47764762 (GRCh38)
                        15:48056959 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:47764761:G:A
                        Gene:
                        SEMA6D (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000012/3 (GnomAD_exomes)
                        A=0.000019/5 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000015.10:g.47764762G>A, NC_000015.9:g.48056959G>A, NG_029119.2:g.585557G>A, NM_001358351.3:c.1222G>A, NM_001358351.2:c.1222G>A, NM_001358351.1:c.1222G>A, NM_024966.3:c.1222G>A, NM_024966.2:c.1222G>A, NM_153618.2:c.1222G>A, NM_153618.1:c.1222G>A, NM_153617.2:c.1222G>A, NM_153617.1:c.1222G>A, NM_020858.2:c.1222G>A, NM_020858.1:c.1222G>A, NM_153616.2:c.1222G>A, NM_153616.1:c.1222G>A, NM_001198999.2:c.1222G>A, NM_001198999.1:c.1222G>A, NM_001358352.2:c.1222G>A, NM_001358352.1:c.1222G>A, NM_153619.1:c.1222G>A, XM_017022617.3:c.1222G>A, XM_017022617.2:c.1222G>A, XM_017022617.1:c.1222G>A, XM_011522075.3:c.1222G>A, XM_011522075.2:c.1222G>A, XM_011522075.1:c.1222G>A, XM_011522076.3:c.1222G>A, XM_011522076.2:c.1222G>A, XM_011522076.1:c.1222G>A, XM_011522077.3:c.1222G>A, XM_011522077.2:c.1222G>A, XM_011522077.1:c.1222G>A, XM_011522078.3:c.1222G>A, XM_011522078.2:c.1222G>A, XM_011522078.1:c.1222G>A, XM_011522079.3:c.1222G>A, XM_011522079.2:c.1222G>A, XM_011522079.1:c.1222G>A, XM_011522080.3:c.1222G>A, XM_011522080.2:c.1222G>A, XM_011522080.1:c.1222G>A, XM_011522081.3:c.1222G>A, XM_011522081.2:c.1222G>A, XM_011522081.1:c.1222G>A, XM_024450075.2:c.1222G>A, XM_024450075.1:c.1222G>A, XM_024450074.2:c.1222G>A, XM_024450074.1:c.1222G>A, XM_024450073.2:c.1222G>A, XM_024450073.1:c.1222G>A, XM_017022620.2:c.1222G>A, XM_017022620.1:c.1222G>A, XM_017022621.2:c.1222G>A, XM_017022621.1:c.1222G>A, XM_024450076.2:c.1222G>A, XM_024450076.1:c.1222G>A, XM_047433108.1:c.1222G>A, XM_047433119.1:c.1222G>A, XM_047433110.1:c.1222G>A, XM_047433113.1:c.1222G>A, XM_047433121.1:c.1222G>A, XM_047433125.1:c.1222G>A, XM_047433109.1:c.1222G>A, XM_047433129.1:c.1222G>A, XM_047433116.1:c.1222G>A, XM_047433111.1:c.1222G>A, XM_047433106.1:c.1222G>A, XM_047433118.1:c.1222G>A, XM_047433124.1:c.1222G>A, XM_047433114.1:c.1222G>A, XM_047433123.1:c.1222G>A, XM_047433115.1:c.1222G>A, XM_047433126.1:c.1222G>A, XM_047433133.1:c.1222G>A, XM_047433112.1:c.1222G>A, XM_047433127.1:c.1222G>A, XM_047433107.1:c.1222G>A, XM_047433122.1:c.1222G>A, XM_047433137.1:c.1222G>A, XM_047433130.1:c.1222G>A, XM_047433120.1:c.1222G>A, XM_047433117.1:c.1222G>A, XM_047433128.1:c.1222G>A, XM_047433132.1:c.1222G>A, XM_047433134.1:c.1222G>A, XM_047433136.1:c.1222G>A, XM_047433135.1:c.1222G>A, XM_047433138.1:c.1222G>A, XM_047433139.1:c.1222G>A, NP_001345280.1:p.Asp408Asn, NP_079242.2:p.Asp408Asn, NP_705871.1:p.Asp408Asn, NP_705870.1:p.Asp408Asn, NP_065909.1:p.Asp408Asn, NP_705869.1:p.Asp408Asn, NP_001185928.1:p.Asp408Asn, NP_001345281.1:p.Asp408Asn, NP_705872.1:p.Asp408Asn, XP_016878106.1:p.Asp408Asn, XP_011520377.1:p.Asp408Asn, XP_011520378.1:p.Asp408Asn, XP_011520379.1:p.Asp408Asn, XP_011520380.1:p.Asp408Asn, XP_011520381.1:p.Asp408Asn, XP_011520382.1:p.Asp408Asn, XP_011520383.1:p.Asp408Asn, XP_024305843.1:p.Asp408Asn, XP_024305842.1:p.Asp408Asn, XP_024305841.1:p.Asp408Asn, XP_016878109.1:p.Asp408Asn, XP_016878110.1:p.Asp408Asn, XP_024305844.1:p.Asp408Asn, XP_047289064.1:p.Asp408Asn, XP_047289075.1:p.Asp408Asn, XP_047289066.1:p.Asp408Asn, XP_047289069.1:p.Asp408Asn, XP_047289077.1:p.Asp408Asn, XP_047289081.1:p.Asp408Asn, XP_047289065.1:p.Asp408Asn, XP_047289085.1:p.Asp408Asn, XP_047289072.1:p.Asp408Asn, XP_047289067.1:p.Asp408Asn, XP_047289062.1:p.Asp408Asn, XP_047289074.1:p.Asp408Asn, XP_047289080.1:p.Asp408Asn, XP_047289070.1:p.Asp408Asn, XP_047289079.1:p.Asp408Asn, XP_047289071.1:p.Asp408Asn, XP_047289082.1:p.Asp408Asn, XP_047289089.1:p.Asp408Asn, XP_047289068.1:p.Asp408Asn, XP_047289083.1:p.Asp408Asn, XP_047289063.1:p.Asp408Asn, XP_047289078.1:p.Asp408Asn, XP_047289093.1:p.Asp408Asn, XP_047289086.1:p.Asp408Asn, XP_047289076.1:p.Asp408Asn, XP_047289073.1:p.Asp408Asn, XP_047289084.1:p.Asp408Asn, XP_047289088.1:p.Asp408Asn, XP_047289090.1:p.Asp408Asn, XP_047289092.1:p.Asp408Asn, XP_047289091.1:p.Asp408Asn, XP_047289094.1:p.Asp408Asn, XP_047289095.1:p.Asp408Asn

                        12.

                        rs1484924727 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:47771252 (GRCh38)
                          15:48063449 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:47771251:A:G
                          Gene:
                          SEMA6D (Varview)
                          Functional Consequence:
                          missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.5/1 (SGDP_PRJ)
                          HGVS:
                          NC_000015.10:g.47771252A>G, NC_000015.9:g.48063449A>G, NG_029119.2:g.592047A>G, NM_001358351.3:c.2689A>G, NM_001358351.2:c.2689A>G, NM_001358351.1:c.2689A>G, NM_153618.2:c.2689A>G, NM_153618.1:c.2689A>G, NM_153617.2:c.2521A>G, NM_153617.1:c.2521A>G, NM_020858.2:c.2503A>G, NM_020858.1:c.2503A>G, NM_153616.2:c.2464A>G, NM_153616.1:c.2464A>G, NM_001198999.2:c.2503A>G, NM_001198999.1:c.2503A>G, NM_001358352.2:c.2728A>G, NM_001358352.1:c.2728A>G, NM_153619.1:c.*705A>G, XM_017022617.3:c.2728A>G, XM_017022617.2:c.2728A>G, XM_017022617.1:c.2728A>G, XM_011522075.3:c.2728A>G, XM_011522075.2:c.2728A>G, XM_011522075.1:c.2728A>G, XM_011522076.3:c.2671A>G, XM_011522076.2:c.2671A>G, XM_011522076.1:c.2671A>G, XM_011522077.3:c.2632A>G, XM_011522077.2:c.2632A>G, XM_011522077.1:c.2632A>G, XM_011522078.3:c.2560A>G, XM_011522078.2:c.2560A>G, XM_011522078.1:c.2560A>G, XM_011522079.3:c.2521A>G, XM_011522079.2:c.2521A>G, XM_011522079.1:c.2521A>G, XM_011522080.3:c.2503A>G, XM_011522080.2:c.2503A>G, XM_011522080.1:c.2503A>G, XM_011522081.3:c.2464A>G, XM_011522081.2:c.2464A>G, XM_011522081.1:c.2464A>G, XM_024450075.2:c.2728A>G, XM_024450075.1:c.2728A>G, XM_024450074.2:c.2728A>G, XM_024450074.1:c.2728A>G, XM_024450073.2:c.2728A>G, XM_024450073.1:c.2728A>G, XM_017022620.2:c.2521A>G, XM_017022620.1:c.2521A>G, XM_017022621.2:c.2464A>G, XM_017022621.1:c.2464A>G, XM_024450076.2:c.2503A>G, XM_024450076.1:c.2503A>G, XM_047433108.1:c.2728A>G, XM_047433119.1:c.2689A>G, XM_047433110.1:c.2728A>G, XM_047433113.1:c.2728A>G, XM_047433121.1:c.2689A>G, XM_047433125.1:c.2671A>G, XM_047433109.1:c.2728A>G, XM_047433129.1:c.2632A>G, XM_047433116.1:c.2689A>G, XM_047433111.1:c.2728A>G, XM_047433106.1:c.2728A>G, XM_047433118.1:c.2689A>G, XM_047433124.1:c.2671A>G, XM_047433114.1:c.2689A>G, XM_047433123.1:c.2671A>G, XM_047433115.1:c.2689A>G, XM_047433126.1:c.2632A>G, XM_047433133.1:c.2521A>G, XM_047433112.1:c.2728A>G, XM_047433127.1:c.2632A>G, XM_047433107.1:c.2728A>G, XM_047433122.1:c.2689A>G, XM_047433137.1:c.2464A>G, XM_047433130.1:c.2560A>G, XM_047433120.1:c.2689A>G, XM_047433117.1:c.2689A>G, XM_047433128.1:c.2632A>G, XM_047433132.1:c.2521A>G, XM_047433134.1:c.2503A>G, XM_047433136.1:c.2464A>G, XM_047433135.1:c.2503A>G, XM_047433138.1:c.2464A>G, XM_047433139.1:c.2464A>G, NP_001345280.1:p.Met897Val, NP_705871.1:p.Met897Val, NP_705870.1:p.Met841Val, NP_065909.1:p.Met835Val, NP_705869.1:p.Met822Val, NP_001185928.1:p.Met835Val, NP_001345281.1:p.Met910Val, XP_016878106.1:p.Met910Val, XP_011520377.1:p.Met910Val, XP_011520378.1:p.Met891Val, XP_011520379.1:p.Met878Val, XP_011520380.1:p.Met854Val, XP_011520381.1:p.Met841Val, XP_011520382.1:p.Met835Val, XP_011520383.1:p.Met822Val, XP_024305843.1:p.Met910Val, XP_024305842.1:p.Met910Val, XP_024305841.1:p.Met910Val, XP_016878109.1:p.Met841Val, XP_016878110.1:p.Met822Val, XP_024305844.1:p.Met835Val, XP_047289064.1:p.Met910Val, XP_047289075.1:p.Met897Val, XP_047289066.1:p.Met910Val, XP_047289069.1:p.Met910Val, XP_047289077.1:p.Met897Val, XP_047289081.1:p.Met891Val, XP_047289065.1:p.Met910Val, XP_047289085.1:p.Met878Val, XP_047289072.1:p.Met897Val, XP_047289067.1:p.Met910Val, XP_047289062.1:p.Met910Val, XP_047289074.1:p.Met897Val, XP_047289080.1:p.Met891Val, XP_047289070.1:p.Met897Val, XP_047289079.1:p.Met891Val, XP_047289071.1:p.Met897Val, XP_047289082.1:p.Met878Val, XP_047289089.1:p.Met841Val, XP_047289068.1:p.Met910Val, XP_047289083.1:p.Met878Val, XP_047289063.1:p.Met910Val, XP_047289078.1:p.Met897Val, XP_047289093.1:p.Met822Val, XP_047289086.1:p.Met854Val, XP_047289076.1:p.Met897Val, XP_047289073.1:p.Met897Val, XP_047289084.1:p.Met878Val, XP_047289088.1:p.Met841Val, XP_047289090.1:p.Met835Val, XP_047289092.1:p.Met822Val, XP_047289091.1:p.Met835Val, XP_047289094.1:p.Met822Val, XP_047289095.1:p.Met822Val

                          13.

                          rs1483806899 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            15:47770997 (GRCh38)
                            15:48063194 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:47770996:A:G
                            Gene:
                            SEMA6D (Varview)
                            Functional Consequence:
                            missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000015.10:g.47770997A>G, NC_000015.9:g.48063194A>G, NG_029119.2:g.591792A>G, NM_001358351.3:c.2434A>G, NM_001358351.2:c.2434A>G, NM_001358351.1:c.2434A>G, NM_153618.2:c.2434A>G, NM_153618.1:c.2434A>G, NM_153617.2:c.2266A>G, NM_153617.1:c.2266A>G, NM_020858.2:c.2248A>G, NM_020858.1:c.2248A>G, NM_153616.2:c.2209A>G, NM_153616.1:c.2209A>G, NM_001198999.2:c.2248A>G, NM_001198999.1:c.2248A>G, NM_001358352.2:c.2473A>G, NM_001358352.1:c.2473A>G, NM_153619.1:c.*450A>G, XM_017022617.3:c.2473A>G, XM_017022617.2:c.2473A>G, XM_017022617.1:c.2473A>G, XM_011522075.3:c.2473A>G, XM_011522075.2:c.2473A>G, XM_011522075.1:c.2473A>G, XM_011522076.3:c.2416A>G, XM_011522076.2:c.2416A>G, XM_011522076.1:c.2416A>G, XM_011522077.3:c.2377A>G, XM_011522077.2:c.2377A>G, XM_011522077.1:c.2377A>G, XM_011522078.3:c.2305A>G, XM_011522078.2:c.2305A>G, XM_011522078.1:c.2305A>G, XM_011522079.3:c.2266A>G, XM_011522079.2:c.2266A>G, XM_011522079.1:c.2266A>G, XM_011522080.3:c.2248A>G, XM_011522080.2:c.2248A>G, XM_011522080.1:c.2248A>G, XM_011522081.3:c.2209A>G, XM_011522081.2:c.2209A>G, XM_011522081.1:c.2209A>G, XM_024450075.2:c.2473A>G, XM_024450075.1:c.2473A>G, XM_024450074.2:c.2473A>G, XM_024450074.1:c.2473A>G, XM_024450073.2:c.2473A>G, XM_024450073.1:c.2473A>G, XM_017022620.2:c.2266A>G, XM_017022620.1:c.2266A>G, XM_017022621.2:c.2209A>G, XM_017022621.1:c.2209A>G, XM_024450076.2:c.2248A>G, XM_024450076.1:c.2248A>G, XM_047433108.1:c.2473A>G, XM_047433119.1:c.2434A>G, XM_047433110.1:c.2473A>G, XM_047433113.1:c.2473A>G, XM_047433121.1:c.2434A>G, XM_047433125.1:c.2416A>G, XM_047433109.1:c.2473A>G, XM_047433129.1:c.2377A>G, XM_047433116.1:c.2434A>G, XM_047433111.1:c.2473A>G, XM_047433106.1:c.2473A>G, XM_047433118.1:c.2434A>G, XM_047433124.1:c.2416A>G, XM_047433114.1:c.2434A>G, XM_047433123.1:c.2416A>G, XM_047433115.1:c.2434A>G, XM_047433126.1:c.2377A>G, XM_047433133.1:c.2266A>G, XM_047433112.1:c.2473A>G, XM_047433127.1:c.2377A>G, XM_047433107.1:c.2473A>G, XM_047433122.1:c.2434A>G, XM_047433137.1:c.2209A>G, XM_047433130.1:c.2305A>G, XM_047433120.1:c.2434A>G, XM_047433117.1:c.2434A>G, XM_047433128.1:c.2377A>G, XM_047433132.1:c.2266A>G, XM_047433134.1:c.2248A>G, XM_047433136.1:c.2209A>G, XM_047433135.1:c.2248A>G, XM_047433138.1:c.2209A>G, XM_047433139.1:c.2209A>G, NP_001345280.1:p.Ser812Gly, NP_705871.1:p.Ser812Gly, NP_705870.1:p.Ser756Gly, NP_065909.1:p.Ser750Gly, NP_705869.1:p.Ser737Gly, NP_001185928.1:p.Ser750Gly, NP_001345281.1:p.Ser825Gly, XP_016878106.1:p.Ser825Gly, XP_011520377.1:p.Ser825Gly, XP_011520378.1:p.Ser806Gly, XP_011520379.1:p.Ser793Gly, XP_011520380.1:p.Ser769Gly, XP_011520381.1:p.Ser756Gly, XP_011520382.1:p.Ser750Gly, XP_011520383.1:p.Ser737Gly, XP_024305843.1:p.Ser825Gly, XP_024305842.1:p.Ser825Gly, XP_024305841.1:p.Ser825Gly, XP_016878109.1:p.Ser756Gly, XP_016878110.1:p.Ser737Gly, XP_024305844.1:p.Ser750Gly, XP_047289064.1:p.Ser825Gly, XP_047289075.1:p.Ser812Gly, XP_047289066.1:p.Ser825Gly, XP_047289069.1:p.Ser825Gly, XP_047289077.1:p.Ser812Gly, XP_047289081.1:p.Ser806Gly, XP_047289065.1:p.Ser825Gly, XP_047289085.1:p.Ser793Gly, XP_047289072.1:p.Ser812Gly, XP_047289067.1:p.Ser825Gly, XP_047289062.1:p.Ser825Gly, XP_047289074.1:p.Ser812Gly, XP_047289080.1:p.Ser806Gly, XP_047289070.1:p.Ser812Gly, XP_047289079.1:p.Ser806Gly, XP_047289071.1:p.Ser812Gly, XP_047289082.1:p.Ser793Gly, XP_047289089.1:p.Ser756Gly, XP_047289068.1:p.Ser825Gly, XP_047289083.1:p.Ser793Gly, XP_047289063.1:p.Ser825Gly, XP_047289078.1:p.Ser812Gly, XP_047289093.1:p.Ser737Gly, XP_047289086.1:p.Ser769Gly, XP_047289076.1:p.Ser812Gly, XP_047289073.1:p.Ser812Gly, XP_047289084.1:p.Ser793Gly, XP_047289088.1:p.Ser756Gly, XP_047289090.1:p.Ser750Gly, XP_047289092.1:p.Ser737Gly, XP_047289091.1:p.Ser750Gly, XP_047289094.1:p.Ser737Gly, XP_047289095.1:p.Ser737Gly

                            14.

                            rs1483513194 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:47766614 (GRCh38)
                              15:48058811 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:47766613:A:G
                              Gene:
                              SEMA6D (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,splice_acceptor_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000015.10:g.47766614A>G, NC_000015.9:g.48058811A>G, NG_029119.2:g.587409A>G, NM_020858.2:c.1684A>G, NM_020858.1:c.1684A>G, NM_001198999.2:c.1684A>G, NM_001198999.1:c.1684A>G, NM_001358352.2:c.1684A>G, NM_001358352.1:c.1684A>G, XM_017022617.3:c.1684A>G, XM_017022617.2:c.1684A>G, XM_017022617.1:c.1684A>G, XM_011522075.3:c.1684A>G, XM_011522075.2:c.1684A>G, XM_011522075.1:c.1684A>G, XM_011522076.3:c.1684A>G, XM_011522076.2:c.1684A>G, XM_011522076.1:c.1684A>G, XM_011522078.3:c.1684A>G, XM_011522078.2:c.1684A>G, XM_011522078.1:c.1684A>G, XM_011522080.3:c.1684A>G, XM_011522080.2:c.1684A>G, XM_011522080.1:c.1684A>G, XM_024450075.2:c.1684A>G, XM_024450075.1:c.1684A>G, XM_024450074.2:c.1684A>G, XM_024450074.1:c.1684A>G, XM_024450073.2:c.1684A>G, XM_024450073.1:c.1684A>G, XM_024450076.2:c.1684A>G, XM_024450076.1:c.1684A>G, XM_047433108.1:c.1684A>G, XM_047433110.1:c.1684A>G, XM_047433113.1:c.1684A>G, XM_047433125.1:c.1684A>G, XM_047433109.1:c.1684A>G, XM_047433111.1:c.1684A>G, XM_047433106.1:c.1684A>G, XM_047433124.1:c.1684A>G, XM_047433123.1:c.1684A>G, XM_047433112.1:c.1684A>G, XM_047433107.1:c.1684A>G, XM_047433130.1:c.1684A>G, XM_047433134.1:c.1684A>G, XM_047433135.1:c.1684A>G, NP_065909.1:p.Ser562Gly, NP_001185928.1:p.Ser562Gly, NP_001345281.1:p.Ser562Gly, XP_016878106.1:p.Ser562Gly, XP_011520377.1:p.Ser562Gly, XP_011520378.1:p.Ser562Gly, XP_011520380.1:p.Ser562Gly, XP_011520382.1:p.Ser562Gly, XP_024305843.1:p.Ser562Gly, XP_024305842.1:p.Ser562Gly, XP_024305841.1:p.Ser562Gly, XP_024305844.1:p.Ser562Gly, XP_047289064.1:p.Ser562Gly, XP_047289066.1:p.Ser562Gly, XP_047289069.1:p.Ser562Gly, XP_047289081.1:p.Ser562Gly, XP_047289065.1:p.Ser562Gly, XP_047289067.1:p.Ser562Gly, XP_047289062.1:p.Ser562Gly, XP_047289080.1:p.Ser562Gly, XP_047289079.1:p.Ser562Gly, XP_047289068.1:p.Ser562Gly, XP_047289063.1:p.Ser562Gly, XP_047289086.1:p.Ser562Gly, XP_047289090.1:p.Ser562Gly, XP_047289091.1:p.Ser562Gly

                              15.

                              rs1483163428 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                15:47764671 (GRCh38)
                                15:48056868 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:47764670:A:T
                                Gene:
                                SEMA6D (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000015.10:g.47764671A>T, NC_000015.9:g.48056868A>T, NG_029119.2:g.585466A>T, NM_001358351.3:c.1131A>T, NM_001358351.2:c.1131A>T, NM_001358351.1:c.1131A>T, NM_024966.3:c.1131A>T, NM_024966.2:c.1131A>T, NM_153618.2:c.1131A>T, NM_153618.1:c.1131A>T, NM_153617.2:c.1131A>T, NM_153617.1:c.1131A>T, NM_020858.2:c.1131A>T, NM_020858.1:c.1131A>T, NM_153616.2:c.1131A>T, NM_153616.1:c.1131A>T, NM_001198999.2:c.1131A>T, NM_001198999.1:c.1131A>T, NM_001358352.2:c.1131A>T, NM_001358352.1:c.1131A>T, NM_153619.1:c.1131A>T, XM_017022617.3:c.1131A>T, XM_017022617.2:c.1131A>T, XM_017022617.1:c.1131A>T, XM_011522075.3:c.1131A>T, XM_011522075.2:c.1131A>T, XM_011522075.1:c.1131A>T, XM_011522076.3:c.1131A>T, XM_011522076.2:c.1131A>T, XM_011522076.1:c.1131A>T, XM_011522077.3:c.1131A>T, XM_011522077.2:c.1131A>T, XM_011522077.1:c.1131A>T, XM_011522078.3:c.1131A>T, XM_011522078.2:c.1131A>T, XM_011522078.1:c.1131A>T, XM_011522079.3:c.1131A>T, XM_011522079.2:c.1131A>T, XM_011522079.1:c.1131A>T, XM_011522080.3:c.1131A>T, XM_011522080.2:c.1131A>T, XM_011522080.1:c.1131A>T, XM_011522081.3:c.1131A>T, XM_011522081.2:c.1131A>T, XM_011522081.1:c.1131A>T, XM_024450075.2:c.1131A>T, XM_024450075.1:c.1131A>T, XM_024450074.2:c.1131A>T, XM_024450074.1:c.1131A>T, XM_024450073.2:c.1131A>T, XM_024450073.1:c.1131A>T, XM_017022620.2:c.1131A>T, XM_017022620.1:c.1131A>T, XM_017022621.2:c.1131A>T, XM_017022621.1:c.1131A>T, XM_024450076.2:c.1131A>T, XM_024450076.1:c.1131A>T, XM_047433108.1:c.1131A>T, XM_047433119.1:c.1131A>T, XM_047433110.1:c.1131A>T, XM_047433113.1:c.1131A>T, XM_047433121.1:c.1131A>T, XM_047433125.1:c.1131A>T, XM_047433109.1:c.1131A>T, XM_047433129.1:c.1131A>T, XM_047433116.1:c.1131A>T, XM_047433111.1:c.1131A>T, XM_047433106.1:c.1131A>T, XM_047433118.1:c.1131A>T, XM_047433124.1:c.1131A>T, XM_047433114.1:c.1131A>T, XM_047433123.1:c.1131A>T, XM_047433115.1:c.1131A>T, XM_047433126.1:c.1131A>T, XM_047433133.1:c.1131A>T, XM_047433112.1:c.1131A>T, XM_047433127.1:c.1131A>T, XM_047433107.1:c.1131A>T, XM_047433122.1:c.1131A>T, XM_047433137.1:c.1131A>T, XM_047433130.1:c.1131A>T, XM_047433120.1:c.1131A>T, XM_047433117.1:c.1131A>T, XM_047433128.1:c.1131A>T, XM_047433132.1:c.1131A>T, XM_047433134.1:c.1131A>T, XM_047433136.1:c.1131A>T, XM_047433135.1:c.1131A>T, XM_047433138.1:c.1131A>T, XM_047433139.1:c.1131A>T, NP_001345280.1:p.Glu377Asp, NP_079242.2:p.Glu377Asp, NP_705871.1:p.Glu377Asp, NP_705870.1:p.Glu377Asp, NP_065909.1:p.Glu377Asp, NP_705869.1:p.Glu377Asp, NP_001185928.1:p.Glu377Asp, NP_001345281.1:p.Glu377Asp, NP_705872.1:p.Glu377Asp, XP_016878106.1:p.Glu377Asp, XP_011520377.1:p.Glu377Asp, XP_011520378.1:p.Glu377Asp, XP_011520379.1:p.Glu377Asp, XP_011520380.1:p.Glu377Asp, XP_011520381.1:p.Glu377Asp, XP_011520382.1:p.Glu377Asp, XP_011520383.1:p.Glu377Asp, XP_024305843.1:p.Glu377Asp, XP_024305842.1:p.Glu377Asp, XP_024305841.1:p.Glu377Asp, XP_016878109.1:p.Glu377Asp, XP_016878110.1:p.Glu377Asp, XP_024305844.1:p.Glu377Asp, XP_047289064.1:p.Glu377Asp, XP_047289075.1:p.Glu377Asp, XP_047289066.1:p.Glu377Asp, XP_047289069.1:p.Glu377Asp, XP_047289077.1:p.Glu377Asp, XP_047289081.1:p.Glu377Asp, XP_047289065.1:p.Glu377Asp, XP_047289085.1:p.Glu377Asp, XP_047289072.1:p.Glu377Asp, XP_047289067.1:p.Glu377Asp, XP_047289062.1:p.Glu377Asp, XP_047289074.1:p.Glu377Asp, XP_047289080.1:p.Glu377Asp, XP_047289070.1:p.Glu377Asp, XP_047289079.1:p.Glu377Asp, XP_047289071.1:p.Glu377Asp, XP_047289082.1:p.Glu377Asp, XP_047289089.1:p.Glu377Asp, XP_047289068.1:p.Glu377Asp, XP_047289083.1:p.Glu377Asp, XP_047289063.1:p.Glu377Asp, XP_047289078.1:p.Glu377Asp, XP_047289093.1:p.Glu377Asp, XP_047289086.1:p.Glu377Asp, XP_047289076.1:p.Glu377Asp, XP_047289073.1:p.Glu377Asp, XP_047289084.1:p.Glu377Asp, XP_047289088.1:p.Glu377Asp, XP_047289090.1:p.Glu377Asp, XP_047289092.1:p.Glu377Asp, XP_047289091.1:p.Glu377Asp, XP_047289094.1:p.Glu377Asp, XP_047289095.1:p.Glu377Asp

                                16.

                                rs1482340165 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:47764682 (GRCh38)
                                  15:48056879 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:47764681:C:T
                                  Gene:
                                  SEMA6D (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.47764682C>T, NC_000015.9:g.48056879C>T, NG_029119.2:g.585477C>T, NM_001358351.3:c.1142C>T, NM_001358351.2:c.1142C>T, NM_001358351.1:c.1142C>T, NM_024966.3:c.1142C>T, NM_024966.2:c.1142C>T, NM_153618.2:c.1142C>T, NM_153618.1:c.1142C>T, NM_153617.2:c.1142C>T, NM_153617.1:c.1142C>T, NM_020858.2:c.1142C>T, NM_020858.1:c.1142C>T, NM_153616.2:c.1142C>T, NM_153616.1:c.1142C>T, NM_001198999.2:c.1142C>T, NM_001198999.1:c.1142C>T, NM_001358352.2:c.1142C>T, NM_001358352.1:c.1142C>T, NM_153619.1:c.1142C>T, XM_017022617.3:c.1142C>T, XM_017022617.2:c.1142C>T, XM_017022617.1:c.1142C>T, XM_011522075.3:c.1142C>T, XM_011522075.2:c.1142C>T, XM_011522075.1:c.1142C>T, XM_011522076.3:c.1142C>T, XM_011522076.2:c.1142C>T, XM_011522076.1:c.1142C>T, XM_011522077.3:c.1142C>T, XM_011522077.2:c.1142C>T, XM_011522077.1:c.1142C>T, XM_011522078.3:c.1142C>T, XM_011522078.2:c.1142C>T, XM_011522078.1:c.1142C>T, XM_011522079.3:c.1142C>T, XM_011522079.2:c.1142C>T, XM_011522079.1:c.1142C>T, XM_011522080.3:c.1142C>T, XM_011522080.2:c.1142C>T, XM_011522080.1:c.1142C>T, XM_011522081.3:c.1142C>T, XM_011522081.2:c.1142C>T, XM_011522081.1:c.1142C>T, XM_024450075.2:c.1142C>T, XM_024450075.1:c.1142C>T, XM_024450074.2:c.1142C>T, XM_024450074.1:c.1142C>T, XM_024450073.2:c.1142C>T, XM_024450073.1:c.1142C>T, XM_017022620.2:c.1142C>T, XM_017022620.1:c.1142C>T, XM_017022621.2:c.1142C>T, XM_017022621.1:c.1142C>T, XM_024450076.2:c.1142C>T, XM_024450076.1:c.1142C>T, XM_047433108.1:c.1142C>T, XM_047433119.1:c.1142C>T, XM_047433110.1:c.1142C>T, XM_047433113.1:c.1142C>T, XM_047433121.1:c.1142C>T, XM_047433125.1:c.1142C>T, XM_047433109.1:c.1142C>T, XM_047433129.1:c.1142C>T, XM_047433116.1:c.1142C>T, XM_047433111.1:c.1142C>T, XM_047433106.1:c.1142C>T, XM_047433118.1:c.1142C>T, XM_047433124.1:c.1142C>T, XM_047433114.1:c.1142C>T, XM_047433123.1:c.1142C>T, XM_047433115.1:c.1142C>T, XM_047433126.1:c.1142C>T, XM_047433133.1:c.1142C>T, XM_047433112.1:c.1142C>T, XM_047433127.1:c.1142C>T, XM_047433107.1:c.1142C>T, XM_047433122.1:c.1142C>T, XM_047433137.1:c.1142C>T, XM_047433130.1:c.1142C>T, XM_047433120.1:c.1142C>T, XM_047433117.1:c.1142C>T, XM_047433128.1:c.1142C>T, XM_047433132.1:c.1142C>T, XM_047433134.1:c.1142C>T, XM_047433136.1:c.1142C>T, XM_047433135.1:c.1142C>T, XM_047433138.1:c.1142C>T, XM_047433139.1:c.1142C>T, NP_001345280.1:p.Thr381Ile, NP_079242.2:p.Thr381Ile, NP_705871.1:p.Thr381Ile, NP_705870.1:p.Thr381Ile, NP_065909.1:p.Thr381Ile, NP_705869.1:p.Thr381Ile, NP_001185928.1:p.Thr381Ile, NP_001345281.1:p.Thr381Ile, NP_705872.1:p.Thr381Ile, XP_016878106.1:p.Thr381Ile, XP_011520377.1:p.Thr381Ile, XP_011520378.1:p.Thr381Ile, XP_011520379.1:p.Thr381Ile, XP_011520380.1:p.Thr381Ile, XP_011520381.1:p.Thr381Ile, XP_011520382.1:p.Thr381Ile, XP_011520383.1:p.Thr381Ile, XP_024305843.1:p.Thr381Ile, XP_024305842.1:p.Thr381Ile, XP_024305841.1:p.Thr381Ile, XP_016878109.1:p.Thr381Ile, XP_016878110.1:p.Thr381Ile, XP_024305844.1:p.Thr381Ile, XP_047289064.1:p.Thr381Ile, XP_047289075.1:p.Thr381Ile, XP_047289066.1:p.Thr381Ile, XP_047289069.1:p.Thr381Ile, XP_047289077.1:p.Thr381Ile, XP_047289081.1:p.Thr381Ile, XP_047289065.1:p.Thr381Ile, XP_047289085.1:p.Thr381Ile, XP_047289072.1:p.Thr381Ile, XP_047289067.1:p.Thr381Ile, XP_047289062.1:p.Thr381Ile, XP_047289074.1:p.Thr381Ile, XP_047289080.1:p.Thr381Ile, XP_047289070.1:p.Thr381Ile, XP_047289079.1:p.Thr381Ile, XP_047289071.1:p.Thr381Ile, XP_047289082.1:p.Thr381Ile, XP_047289089.1:p.Thr381Ile, XP_047289068.1:p.Thr381Ile, XP_047289083.1:p.Thr381Ile, XP_047289063.1:p.Thr381Ile, XP_047289078.1:p.Thr381Ile, XP_047289093.1:p.Thr381Ile, XP_047289086.1:p.Thr381Ile, XP_047289076.1:p.Thr381Ile, XP_047289073.1:p.Thr381Ile, XP_047289084.1:p.Thr381Ile, XP_047289088.1:p.Thr381Ile, XP_047289090.1:p.Thr381Ile, XP_047289092.1:p.Thr381Ile, XP_047289091.1:p.Thr381Ile, XP_047289094.1:p.Thr381Ile, XP_047289095.1:p.Thr381Ile

                                  17.

                                  rs1480343971 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    15:47771264 (GRCh38)
                                    15:48063461 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:47771263:C:A
                                    Gene:
                                    SEMA6D (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.47771264C>A, NC_000015.9:g.48063461C>A, NG_029119.2:g.592059C>A, NM_001358351.3:c.2701C>A, NM_001358351.2:c.2701C>A, NM_001358351.1:c.2701C>A, NM_153618.2:c.2701C>A, NM_153618.1:c.2701C>A, NM_153617.2:c.2533C>A, NM_153617.1:c.2533C>A, NM_020858.2:c.2515C>A, NM_020858.1:c.2515C>A, NM_153616.2:c.2476C>A, NM_153616.1:c.2476C>A, NM_001198999.2:c.2515C>A, NM_001198999.1:c.2515C>A, NM_001358352.2:c.2740C>A, NM_001358352.1:c.2740C>A, NM_153619.1:c.*717C>A, XM_017022617.3:c.2740C>A, XM_017022617.2:c.2740C>A, XM_017022617.1:c.2740C>A, XM_011522075.3:c.2740C>A, XM_011522075.2:c.2740C>A, XM_011522075.1:c.2740C>A, XM_011522076.3:c.2683C>A, XM_011522076.2:c.2683C>A, XM_011522076.1:c.2683C>A, XM_011522077.3:c.2644C>A, XM_011522077.2:c.2644C>A, XM_011522077.1:c.2644C>A, XM_011522078.3:c.2572C>A, XM_011522078.2:c.2572C>A, XM_011522078.1:c.2572C>A, XM_011522079.3:c.2533C>A, XM_011522079.2:c.2533C>A, XM_011522079.1:c.2533C>A, XM_011522080.3:c.2515C>A, XM_011522080.2:c.2515C>A, XM_011522080.1:c.2515C>A, XM_011522081.3:c.2476C>A, XM_011522081.2:c.2476C>A, XM_011522081.1:c.2476C>A, XM_024450075.2:c.2740C>A, XM_024450075.1:c.2740C>A, XM_024450074.2:c.2740C>A, XM_024450074.1:c.2740C>A, XM_024450073.2:c.2740C>A, XM_024450073.1:c.2740C>A, XM_017022620.2:c.2533C>A, XM_017022620.1:c.2533C>A, XM_017022621.2:c.2476C>A, XM_017022621.1:c.2476C>A, XM_024450076.2:c.2515C>A, XM_024450076.1:c.2515C>A, XM_047433108.1:c.2740C>A, XM_047433119.1:c.2701C>A, XM_047433110.1:c.2740C>A, XM_047433113.1:c.2740C>A, XM_047433121.1:c.2701C>A, XM_047433125.1:c.2683C>A, XM_047433109.1:c.2740C>A, XM_047433129.1:c.2644C>A, XM_047433116.1:c.2701C>A, XM_047433111.1:c.2740C>A, XM_047433106.1:c.2740C>A, XM_047433118.1:c.2701C>A, XM_047433124.1:c.2683C>A, XM_047433114.1:c.2701C>A, XM_047433123.1:c.2683C>A, XM_047433115.1:c.2701C>A, XM_047433126.1:c.2644C>A, XM_047433133.1:c.2533C>A, XM_047433112.1:c.2740C>A, XM_047433127.1:c.2644C>A, XM_047433107.1:c.2740C>A, XM_047433122.1:c.2701C>A, XM_047433137.1:c.2476C>A, XM_047433130.1:c.2572C>A, XM_047433120.1:c.2701C>A, XM_047433117.1:c.2701C>A, XM_047433128.1:c.2644C>A, XM_047433132.1:c.2533C>A, XM_047433134.1:c.2515C>A, XM_047433136.1:c.2476C>A, XM_047433135.1:c.2515C>A, XM_047433138.1:c.2476C>A, XM_047433139.1:c.2476C>A, NP_001345280.1:p.Gln901Lys, NP_705871.1:p.Gln901Lys, NP_705870.1:p.Gln845Lys, NP_065909.1:p.Gln839Lys, NP_705869.1:p.Gln826Lys, NP_001185928.1:p.Gln839Lys, NP_001345281.1:p.Gln914Lys, XP_016878106.1:p.Gln914Lys, XP_011520377.1:p.Gln914Lys, XP_011520378.1:p.Gln895Lys, XP_011520379.1:p.Gln882Lys, XP_011520380.1:p.Gln858Lys, XP_011520381.1:p.Gln845Lys, XP_011520382.1:p.Gln839Lys, XP_011520383.1:p.Gln826Lys, XP_024305843.1:p.Gln914Lys, XP_024305842.1:p.Gln914Lys, XP_024305841.1:p.Gln914Lys, XP_016878109.1:p.Gln845Lys, XP_016878110.1:p.Gln826Lys, XP_024305844.1:p.Gln839Lys, XP_047289064.1:p.Gln914Lys, XP_047289075.1:p.Gln901Lys, XP_047289066.1:p.Gln914Lys, XP_047289069.1:p.Gln914Lys, XP_047289077.1:p.Gln901Lys, XP_047289081.1:p.Gln895Lys, XP_047289065.1:p.Gln914Lys, XP_047289085.1:p.Gln882Lys, XP_047289072.1:p.Gln901Lys, XP_047289067.1:p.Gln914Lys, XP_047289062.1:p.Gln914Lys, XP_047289074.1:p.Gln901Lys, XP_047289080.1:p.Gln895Lys, XP_047289070.1:p.Gln901Lys, XP_047289079.1:p.Gln895Lys, XP_047289071.1:p.Gln901Lys, XP_047289082.1:p.Gln882Lys, XP_047289089.1:p.Gln845Lys, XP_047289068.1:p.Gln914Lys, XP_047289083.1:p.Gln882Lys, XP_047289063.1:p.Gln914Lys, XP_047289078.1:p.Gln901Lys, XP_047289093.1:p.Gln826Lys, XP_047289086.1:p.Gln858Lys, XP_047289076.1:p.Gln901Lys, XP_047289073.1:p.Gln901Lys, XP_047289084.1:p.Gln882Lys, XP_047289088.1:p.Gln845Lys, XP_047289090.1:p.Gln839Lys, XP_047289092.1:p.Gln826Lys, XP_047289091.1:p.Gln839Lys, XP_047289094.1:p.Gln826Lys, XP_047289095.1:p.Gln826Lys

                                    18.

                                    rs1479831135 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      15:47760999 (GRCh38)
                                      15:48053196 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:47760998:C:G
                                      Gene:
                                      SEMA6D (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      HGVS:
                                      NC_000015.10:g.47760999C>G, NC_000015.9:g.48053196C>G, NG_029119.2:g.581794C>G, NM_001358351.3:c.243C>G, NM_001358351.2:c.243C>G, NM_001358351.1:c.243C>G, NM_024966.3:c.243C>G, NM_024966.2:c.243C>G, NM_153618.2:c.243C>G, NM_153618.1:c.243C>G, NM_153617.2:c.243C>G, NM_153617.1:c.243C>G, NM_020858.2:c.243C>G, NM_020858.1:c.243C>G, NM_153616.2:c.243C>G, NM_153616.1:c.243C>G, NM_001198999.2:c.243C>G, NM_001198999.1:c.243C>G, NM_001358352.2:c.243C>G, NM_001358352.1:c.243C>G, NM_153619.1:c.243C>G, XM_017022617.3:c.243C>G, XM_017022617.2:c.243C>G, XM_017022617.1:c.243C>G, XM_011522075.3:c.243C>G, XM_011522075.2:c.243C>G, XM_011522075.1:c.243C>G, XM_011522076.3:c.243C>G, XM_011522076.2:c.243C>G, XM_011522076.1:c.243C>G, XM_011522077.3:c.243C>G, XM_011522077.2:c.243C>G, XM_011522077.1:c.243C>G, XM_011522078.3:c.243C>G, XM_011522078.2:c.243C>G, XM_011522078.1:c.243C>G, XM_011522079.3:c.243C>G, XM_011522079.2:c.243C>G, XM_011522079.1:c.243C>G, XM_011522080.3:c.243C>G, XM_011522080.2:c.243C>G, XM_011522080.1:c.243C>G, XM_011522081.3:c.243C>G, XM_011522081.2:c.243C>G, XM_011522081.1:c.243C>G, XM_024450075.2:c.243C>G, XM_024450075.1:c.243C>G, XM_024450074.2:c.243C>G, XM_024450074.1:c.243C>G, XM_024450073.2:c.243C>G, XM_024450073.1:c.243C>G, XM_017022620.2:c.243C>G, XM_017022620.1:c.243C>G, XM_017022621.2:c.243C>G, XM_017022621.1:c.243C>G, XM_024450076.2:c.243C>G, XM_024450076.1:c.243C>G, XM_047433108.1:c.243C>G, XM_047433119.1:c.243C>G, XM_047433110.1:c.243C>G, XM_047433113.1:c.243C>G, XM_047433121.1:c.243C>G, XM_047433125.1:c.243C>G, XM_047433109.1:c.243C>G, XM_047433129.1:c.243C>G, XM_047433116.1:c.243C>G, XM_047433111.1:c.243C>G, XM_047433106.1:c.243C>G, XM_047433118.1:c.243C>G, XM_047433124.1:c.243C>G, XM_047433114.1:c.243C>G, XM_047433123.1:c.243C>G, XM_047433115.1:c.243C>G, XM_047433126.1:c.243C>G, XM_047433133.1:c.243C>G, XM_047433112.1:c.243C>G, XM_047433127.1:c.243C>G, XM_047433107.1:c.243C>G, XM_047433122.1:c.243C>G, XM_047433137.1:c.243C>G, XM_047433130.1:c.243C>G, XM_047433120.1:c.243C>G, XM_047433117.1:c.243C>G, XM_047433128.1:c.243C>G, XM_047433132.1:c.243C>G, XM_047433134.1:c.243C>G, XM_047433136.1:c.243C>G, XM_047433135.1:c.243C>G, XM_047433138.1:c.243C>G, XM_047433139.1:c.243C>G, NP_001345280.1:p.Asn81Lys, NP_079242.2:p.Asn81Lys, NP_705871.1:p.Asn81Lys, NP_705870.1:p.Asn81Lys, NP_065909.1:p.Asn81Lys, NP_705869.1:p.Asn81Lys, NP_001185928.1:p.Asn81Lys, NP_001345281.1:p.Asn81Lys, NP_705872.1:p.Asn81Lys, XP_016878106.1:p.Asn81Lys, XP_011520377.1:p.Asn81Lys, XP_011520378.1:p.Asn81Lys, XP_011520379.1:p.Asn81Lys, XP_011520380.1:p.Asn81Lys, XP_011520381.1:p.Asn81Lys, XP_011520382.1:p.Asn81Lys, XP_011520383.1:p.Asn81Lys, XP_024305843.1:p.Asn81Lys, XP_024305842.1:p.Asn81Lys, XP_024305841.1:p.Asn81Lys, XP_016878109.1:p.Asn81Lys, XP_016878110.1:p.Asn81Lys, XP_024305844.1:p.Asn81Lys, XP_047289064.1:p.Asn81Lys, XP_047289075.1:p.Asn81Lys, XP_047289066.1:p.Asn81Lys, XP_047289069.1:p.Asn81Lys, XP_047289077.1:p.Asn81Lys, XP_047289081.1:p.Asn81Lys, XP_047289065.1:p.Asn81Lys, XP_047289085.1:p.Asn81Lys, XP_047289072.1:p.Asn81Lys, XP_047289067.1:p.Asn81Lys, XP_047289062.1:p.Asn81Lys, XP_047289074.1:p.Asn81Lys, XP_047289080.1:p.Asn81Lys, XP_047289070.1:p.Asn81Lys, XP_047289079.1:p.Asn81Lys, XP_047289071.1:p.Asn81Lys, XP_047289082.1:p.Asn81Lys, XP_047289089.1:p.Asn81Lys, XP_047289068.1:p.Asn81Lys, XP_047289083.1:p.Asn81Lys, XP_047289063.1:p.Asn81Lys, XP_047289078.1:p.Asn81Lys, XP_047289093.1:p.Asn81Lys, XP_047289086.1:p.Asn81Lys, XP_047289076.1:p.Asn81Lys, XP_047289073.1:p.Asn81Lys, XP_047289084.1:p.Asn81Lys, XP_047289088.1:p.Asn81Lys, XP_047289090.1:p.Asn81Lys, XP_047289092.1:p.Asn81Lys, XP_047289091.1:p.Asn81Lys, XP_047289094.1:p.Asn81Lys, XP_047289095.1:p.Asn81Lys

                                      19.

                                      rs1478824488 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        15:47761185 (GRCh38)
                                        15:48053382 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:47761184:G:C
                                        Gene:
                                        SEMA6D (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.47761185G>C, NC_000015.9:g.48053382G>C, NG_029119.2:g.581980G>C, NM_001358351.3:c.310G>C, NM_001358351.2:c.310G>C, NM_001358351.1:c.310G>C, NM_024966.3:c.310G>C, NM_024966.2:c.310G>C, NM_153618.2:c.310G>C, NM_153618.1:c.310G>C, NM_153617.2:c.310G>C, NM_153617.1:c.310G>C, NM_020858.2:c.310G>C, NM_020858.1:c.310G>C, NM_153616.2:c.310G>C, NM_153616.1:c.310G>C, NM_001198999.2:c.310G>C, NM_001198999.1:c.310G>C, NM_001358352.2:c.310G>C, NM_001358352.1:c.310G>C, NM_153619.1:c.310G>C, XM_017022617.3:c.310G>C, XM_017022617.2:c.310G>C, XM_017022617.1:c.310G>C, XM_011522075.3:c.310G>C, XM_011522075.2:c.310G>C, XM_011522075.1:c.310G>C, XM_011522076.3:c.310G>C, XM_011522076.2:c.310G>C, XM_011522076.1:c.310G>C, XM_011522077.3:c.310G>C, XM_011522077.2:c.310G>C, XM_011522077.1:c.310G>C, XM_011522078.3:c.310G>C, XM_011522078.2:c.310G>C, XM_011522078.1:c.310G>C, XM_011522079.3:c.310G>C, XM_011522079.2:c.310G>C, XM_011522079.1:c.310G>C, XM_011522080.3:c.310G>C, XM_011522080.2:c.310G>C, XM_011522080.1:c.310G>C, XM_011522081.3:c.310G>C, XM_011522081.2:c.310G>C, XM_011522081.1:c.310G>C, XM_024450075.2:c.310G>C, XM_024450075.1:c.310G>C, XM_024450074.2:c.310G>C, XM_024450074.1:c.310G>C, XM_024450073.2:c.310G>C, XM_024450073.1:c.310G>C, XM_017022620.2:c.310G>C, XM_017022620.1:c.310G>C, XM_017022621.2:c.310G>C, XM_017022621.1:c.310G>C, XM_024450076.2:c.310G>C, XM_024450076.1:c.310G>C, XM_047433108.1:c.310G>C, XM_047433119.1:c.310G>C, XM_047433110.1:c.310G>C, XM_047433113.1:c.310G>C, XM_047433121.1:c.310G>C, XM_047433125.1:c.310G>C, XM_047433109.1:c.310G>C, XM_047433129.1:c.310G>C, XM_047433116.1:c.310G>C, XM_047433111.1:c.310G>C, XM_047433106.1:c.310G>C, XM_047433118.1:c.310G>C, XM_047433124.1:c.310G>C, XM_047433114.1:c.310G>C, XM_047433123.1:c.310G>C, XM_047433115.1:c.310G>C, XM_047433126.1:c.310G>C, XM_047433133.1:c.310G>C, XM_047433112.1:c.310G>C, XM_047433127.1:c.310G>C, XM_047433107.1:c.310G>C, XM_047433122.1:c.310G>C, XM_047433137.1:c.310G>C, XM_047433130.1:c.310G>C, XM_047433120.1:c.310G>C, XM_047433117.1:c.310G>C, XM_047433128.1:c.310G>C, XM_047433132.1:c.310G>C, XM_047433134.1:c.310G>C, XM_047433136.1:c.310G>C, XM_047433135.1:c.310G>C, XM_047433138.1:c.310G>C, XM_047433139.1:c.310G>C, NP_001345280.1:p.Asp104His, NP_079242.2:p.Asp104His, NP_705871.1:p.Asp104His, NP_705870.1:p.Asp104His, NP_065909.1:p.Asp104His, NP_705869.1:p.Asp104His, NP_001185928.1:p.Asp104His, NP_001345281.1:p.Asp104His, NP_705872.1:p.Asp104His, XP_016878106.1:p.Asp104His, XP_011520377.1:p.Asp104His, XP_011520378.1:p.Asp104His, XP_011520379.1:p.Asp104His, XP_011520380.1:p.Asp104His, XP_011520381.1:p.Asp104His, XP_011520382.1:p.Asp104His, XP_011520383.1:p.Asp104His, XP_024305843.1:p.Asp104His, XP_024305842.1:p.Asp104His, XP_024305841.1:p.Asp104His, XP_016878109.1:p.Asp104His, XP_016878110.1:p.Asp104His, XP_024305844.1:p.Asp104His, XP_047289064.1:p.Asp104His, XP_047289075.1:p.Asp104His, XP_047289066.1:p.Asp104His, XP_047289069.1:p.Asp104His, XP_047289077.1:p.Asp104His, XP_047289081.1:p.Asp104His, XP_047289065.1:p.Asp104His, XP_047289085.1:p.Asp104His, XP_047289072.1:p.Asp104His, XP_047289067.1:p.Asp104His, XP_047289062.1:p.Asp104His, XP_047289074.1:p.Asp104His, XP_047289080.1:p.Asp104His, XP_047289070.1:p.Asp104His, XP_047289079.1:p.Asp104His, XP_047289071.1:p.Asp104His, XP_047289082.1:p.Asp104His, XP_047289089.1:p.Asp104His, XP_047289068.1:p.Asp104His, XP_047289083.1:p.Asp104His, XP_047289063.1:p.Asp104His, XP_047289078.1:p.Asp104His, XP_047289093.1:p.Asp104His, XP_047289086.1:p.Asp104His, XP_047289076.1:p.Asp104His, XP_047289073.1:p.Asp104His, XP_047289084.1:p.Asp104His, XP_047289088.1:p.Asp104His, XP_047289090.1:p.Asp104His, XP_047289092.1:p.Asp104His, XP_047289091.1:p.Asp104His, XP_047289094.1:p.Asp104His, XP_047289095.1:p.Asp104His

                                        20.

                                        rs1477506283 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          15:47760304 (GRCh38)
                                          15:48052501 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:47760303:A:C,NC_000015.10:47760303:A:G
                                          Gene:
                                          SEMA6D (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000023/6 (TOPMED)
                                          HGVS:
                                          NC_000015.10:g.47760304A>C, NC_000015.10:g.47760304A>G, NC_000015.9:g.48052501A>C, NC_000015.9:g.48052501A>G, NG_029119.2:g.581099A>C, NG_029119.2:g.581099A>G, NM_001358351.3:c.110A>C, NM_001358351.3:c.110A>G, NM_001358351.2:c.110A>C, NM_001358351.2:c.110A>G, NM_001358351.1:c.110A>C, NM_001358351.1:c.110A>G, NM_024966.3:c.110A>C, NM_024966.3:c.110A>G, NM_024966.2:c.110A>C, NM_024966.2:c.110A>G, NM_153618.2:c.110A>C, NM_153618.2:c.110A>G, NM_153618.1:c.110A>C, NM_153618.1:c.110A>G, NM_153617.2:c.110A>C, NM_153617.2:c.110A>G, NM_153617.1:c.110A>C, NM_153617.1:c.110A>G, NM_020858.2:c.110A>C, NM_020858.2:c.110A>G, NM_020858.1:c.110A>C, NM_020858.1:c.110A>G, NM_153616.2:c.110A>C, NM_153616.2:c.110A>G, NM_153616.1:c.110A>C, NM_153616.1:c.110A>G, NM_001198999.2:c.110A>C, NM_001198999.2:c.110A>G, NM_001198999.1:c.110A>C, NM_001198999.1:c.110A>G, NM_001358352.2:c.110A>C, NM_001358352.2:c.110A>G, NM_001358352.1:c.110A>C, NM_001358352.1:c.110A>G, NM_153619.1:c.110A>C, NM_153619.1:c.110A>G, XM_017022617.3:c.110A>C, XM_017022617.3:c.110A>G, XM_017022617.2:c.110A>C, XM_017022617.2:c.110A>G, XM_017022617.1:c.110A>C, XM_017022617.1:c.110A>G, XM_011522075.3:c.110A>C, XM_011522075.3:c.110A>G, XM_011522075.2:c.110A>C, XM_011522075.2:c.110A>G, XM_011522075.1:c.110A>C, XM_011522075.1:c.110A>G, XM_011522076.3:c.110A>C, XM_011522076.3:c.110A>G, XM_011522076.2:c.110A>C, XM_011522076.2:c.110A>G, XM_011522076.1:c.110A>C, XM_011522076.1:c.110A>G, XM_011522077.3:c.110A>C, XM_011522077.3:c.110A>G, XM_011522077.2:c.110A>C, XM_011522077.2:c.110A>G, XM_011522077.1:c.110A>C, XM_011522077.1:c.110A>G, XM_011522078.3:c.110A>C, XM_011522078.3:c.110A>G, XM_011522078.2:c.110A>C, XM_011522078.2:c.110A>G, XM_011522078.1:c.110A>C, XM_011522078.1:c.110A>G, XM_011522079.3:c.110A>C, XM_011522079.3:c.110A>G, XM_011522079.2:c.110A>C, XM_011522079.2:c.110A>G, XM_011522079.1:c.110A>C, XM_011522079.1:c.110A>G, XM_011522080.3:c.110A>C, XM_011522080.3:c.110A>G, XM_011522080.2:c.110A>C, XM_011522080.2:c.110A>G, XM_011522080.1:c.110A>C, XM_011522080.1:c.110A>G, XM_011522081.3:c.110A>C, XM_011522081.3:c.110A>G, XM_011522081.2:c.110A>C, XM_011522081.2:c.110A>G, XM_011522081.1:c.110A>C, XM_011522081.1:c.110A>G, XM_024450075.2:c.110A>C, XM_024450075.2:c.110A>G, XM_024450075.1:c.110A>C, XM_024450075.1:c.110A>G, XM_024450074.2:c.110A>C, XM_024450074.2:c.110A>G, XM_024450074.1:c.110A>C, XM_024450074.1:c.110A>G, XM_024450073.2:c.110A>C, XM_024450073.2:c.110A>G, XM_024450073.1:c.110A>C, XM_024450073.1:c.110A>G, XM_017022620.2:c.110A>C, XM_017022620.2:c.110A>G, XM_017022620.1:c.110A>C, XM_017022620.1:c.110A>G, XM_017022621.2:c.110A>C, XM_017022621.2:c.110A>G, XM_017022621.1:c.110A>C, XM_017022621.1:c.110A>G, XM_024450076.2:c.110A>C, XM_024450076.2:c.110A>G, XM_024450076.1:c.110A>C, XM_024450076.1:c.110A>G, XM_047433108.1:c.110A>C, XM_047433108.1:c.110A>G, XM_047433119.1:c.110A>C, XM_047433119.1:c.110A>G, XM_047433110.1:c.110A>C, XM_047433110.1:c.110A>G, XM_047433113.1:c.110A>C, XM_047433113.1:c.110A>G, XM_047433121.1:c.110A>C, XM_047433121.1:c.110A>G, XM_047433125.1:c.110A>C, XM_047433125.1:c.110A>G, XM_047433109.1:c.110A>C, XM_047433109.1:c.110A>G, XM_047433129.1:c.110A>C, XM_047433129.1:c.110A>G, XM_047433116.1:c.110A>C, XM_047433116.1:c.110A>G, XM_047433111.1:c.110A>C, XM_047433111.1:c.110A>G, XM_047433106.1:c.110A>C, XM_047433106.1:c.110A>G, XM_047433118.1:c.110A>C, XM_047433118.1:c.110A>G, XM_047433124.1:c.110A>C, XM_047433124.1:c.110A>G, XM_047433114.1:c.110A>C, XM_047433114.1:c.110A>G, XM_047433123.1:c.110A>C, XM_047433123.1:c.110A>G, XM_047433115.1:c.110A>C, XM_047433115.1:c.110A>G, XM_047433126.1:c.110A>C, XM_047433126.1:c.110A>G, XM_047433133.1:c.110A>C, XM_047433133.1:c.110A>G, XM_047433112.1:c.110A>C, XM_047433112.1:c.110A>G, XM_047433127.1:c.110A>C, XM_047433127.1:c.110A>G, XM_047433107.1:c.110A>C, XM_047433107.1:c.110A>G, XM_047433122.1:c.110A>C, XM_047433122.1:c.110A>G, XM_047433137.1:c.110A>C, XM_047433137.1:c.110A>G, XM_047433130.1:c.110A>C, XM_047433130.1:c.110A>G, XM_047433120.1:c.110A>C, XM_047433120.1:c.110A>G, XM_047433117.1:c.110A>C, XM_047433117.1:c.110A>G, XM_047433128.1:c.110A>C, XM_047433128.1:c.110A>G, XM_047433132.1:c.110A>C, XM_047433132.1:c.110A>G, XM_047433134.1:c.110A>C, XM_047433134.1:c.110A>G, XM_047433136.1:c.110A>C, XM_047433136.1:c.110A>G, XM_047433135.1:c.110A>C, XM_047433135.1:c.110A>G, XM_047433138.1:c.110A>C, XM_047433138.1:c.110A>G, XM_047433139.1:c.110A>C, XM_047433139.1:c.110A>G, NP_001345280.1:p.Tyr37Ser, NP_001345280.1:p.Tyr37Cys, NP_079242.2:p.Tyr37Ser, NP_079242.2:p.Tyr37Cys, NP_705871.1:p.Tyr37Ser, NP_705871.1:p.Tyr37Cys, NP_705870.1:p.Tyr37Ser, NP_705870.1:p.Tyr37Cys, NP_065909.1:p.Tyr37Ser, NP_065909.1:p.Tyr37Cys, NP_705869.1:p.Tyr37Ser, NP_705869.1:p.Tyr37Cys, NP_001185928.1:p.Tyr37Ser, NP_001185928.1:p.Tyr37Cys, NP_001345281.1:p.Tyr37Ser, NP_001345281.1:p.Tyr37Cys, NP_705872.1:p.Tyr37Ser, NP_705872.1:p.Tyr37Cys, XP_016878106.1:p.Tyr37Ser, XP_016878106.1:p.Tyr37Cys, XP_011520377.1:p.Tyr37Ser, XP_011520377.1:p.Tyr37Cys, XP_011520378.1:p.Tyr37Ser, XP_011520378.1:p.Tyr37Cys, XP_011520379.1:p.Tyr37Ser, XP_011520379.1:p.Tyr37Cys, XP_011520380.1:p.Tyr37Ser, XP_011520380.1:p.Tyr37Cys, XP_011520381.1:p.Tyr37Ser, XP_011520381.1:p.Tyr37Cys, XP_011520382.1:p.Tyr37Ser, XP_011520382.1:p.Tyr37Cys, XP_011520383.1:p.Tyr37Ser, XP_011520383.1:p.Tyr37Cys, XP_024305843.1:p.Tyr37Ser, XP_024305843.1:p.Tyr37Cys, XP_024305842.1:p.Tyr37Ser, XP_024305842.1:p.Tyr37Cys, XP_024305841.1:p.Tyr37Ser, XP_024305841.1:p.Tyr37Cys, XP_016878109.1:p.Tyr37Ser, XP_016878109.1:p.Tyr37Cys, XP_016878110.1:p.Tyr37Ser, XP_016878110.1:p.Tyr37Cys, XP_024305844.1:p.Tyr37Ser, XP_024305844.1:p.Tyr37Cys, XP_047289064.1:p.Tyr37Ser, XP_047289064.1:p.Tyr37Cys, XP_047289075.1:p.Tyr37Ser, XP_047289075.1:p.Tyr37Cys, XP_047289066.1:p.Tyr37Ser, XP_047289066.1:p.Tyr37Cys, XP_047289069.1:p.Tyr37Ser, XP_047289069.1:p.Tyr37Cys, XP_047289077.1:p.Tyr37Ser, XP_047289077.1:p.Tyr37Cys, XP_047289081.1:p.Tyr37Ser, XP_047289081.1:p.Tyr37Cys, XP_047289065.1:p.Tyr37Ser, XP_047289065.1:p.Tyr37Cys, XP_047289085.1:p.Tyr37Ser, XP_047289085.1:p.Tyr37Cys, XP_047289072.1:p.Tyr37Ser, XP_047289072.1:p.Tyr37Cys, XP_047289067.1:p.Tyr37Ser, XP_047289067.1:p.Tyr37Cys, XP_047289062.1:p.Tyr37Ser, XP_047289062.1:p.Tyr37Cys, XP_047289074.1:p.Tyr37Ser, XP_047289074.1:p.Tyr37Cys, XP_047289080.1:p.Tyr37Ser, XP_047289080.1:p.Tyr37Cys, XP_047289070.1:p.Tyr37Ser, XP_047289070.1:p.Tyr37Cys, XP_047289079.1:p.Tyr37Ser, XP_047289079.1:p.Tyr37Cys, XP_047289071.1:p.Tyr37Ser, XP_047289071.1:p.Tyr37Cys, XP_047289082.1:p.Tyr37Ser, XP_047289082.1:p.Tyr37Cys, XP_047289089.1:p.Tyr37Ser, XP_047289089.1:p.Tyr37Cys, XP_047289068.1:p.Tyr37Ser, XP_047289068.1:p.Tyr37Cys, XP_047289083.1:p.Tyr37Ser, XP_047289083.1:p.Tyr37Cys, XP_047289063.1:p.Tyr37Ser, XP_047289063.1:p.Tyr37Cys, XP_047289078.1:p.Tyr37Ser, XP_047289078.1:p.Tyr37Cys, XP_047289093.1:p.Tyr37Ser, XP_047289093.1:p.Tyr37Cys, XP_047289086.1:p.Tyr37Ser, XP_047289086.1:p.Tyr37Cys, XP_047289076.1:p.Tyr37Ser, XP_047289076.1:p.Tyr37Cys, XP_047289073.1:p.Tyr37Ser, XP_047289073.1:p.Tyr37Cys, XP_047289084.1:p.Tyr37Ser, XP_047289084.1:p.Tyr37Cys, XP_047289088.1:p.Tyr37Ser, XP_047289088.1:p.Tyr37Cys, XP_047289090.1:p.Tyr37Ser, XP_047289090.1:p.Tyr37Cys, XP_047289092.1:p.Tyr37Ser, XP_047289092.1:p.Tyr37Cys, XP_047289091.1:p.Tyr37Ser, XP_047289091.1:p.Tyr37Cys, XP_047289094.1:p.Tyr37Ser, XP_047289094.1:p.Tyr37Cys, XP_047289095.1:p.Tyr37Ser, XP_047289095.1:p.Tyr37Cys

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