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1.

rs1490226609 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:108181859 (GRCh38)
    7:107822303 (GRCh37)
    Canonical SPDI:
    NC_000007.14:108181858:G:A
    Gene:
    NRCAM (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    A=0.00002/5 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.108181859G>A, NC_000007.13:g.107822303G>A, NG_029898.2:g.279859C>T, NM_005010.5:c.2561C>T, NM_005010.4:c.2561C>T, NM_001037132.4:c.2609C>T, NM_001037132.3:c.2609C>T, NM_001037132.2:c.2609C>T, NM_001193582.2:c.2609C>T, NM_001193582.1:c.2609C>T, NM_001193583.2:c.2552C>T, NM_001193583.1:c.2552C>T, NM_001193584.2:c.2552C>T, NM_001193584.1:c.2552C>T, NM_001371126.1:c.2552C>T, NM_001371163.1:c.2552C>T, NM_001371131.1:c.2609C>T, NR_163868.1:n.3077C>T, NM_001371156.1:c.2609C>T, NM_001371144.1:c.2609C>T, NM_001371169.1:c.2609C>T, NM_001371172.1:c.2552C>T, NM_001371146.1:c.2552C>T, NM_001371133.1:c.2561C>T, NR_163869.1:n.3077C>T, NM_001371168.1:c.2609C>T, NM_001371153.1:c.2609C>T, NM_001371128.1:c.2609C>T, NM_001371138.1:c.2609C>T, NM_001371165.1:c.2552C>T, NM_001371139.1:c.2552C>T, NM_001371158.1:c.2552C>T, NM_001371155.1:c.2552C>T, NM_001371119.1:c.2552C>T, NM_001371124.1:c.2552C>T, NM_001371145.1:c.2552C>T, NM_001371167.1:c.2552C>T, NM_001371162.1:c.2552C>T, NR_163871.1:n.3156C>T, NM_001371136.1:c.2561C>T, NM_001371132.1:c.2552C>T, NM_001371140.1:c.2552C>T, NM_001371171.1:c.2561C>T, NM_001371143.1:c.2264C>T, NM_001371149.1:c.2609C>T, NR_163867.1:n.3077C>T, NR_163870.1:n.3158C>T, NM_001371127.1:c.2606C>T, NM_001371130.1:c.2561C>T, NM_001371150.1:c.2579C>T, NM_001371164.1:c.2264C>T, NM_001371173.1:c.2609C>T, NM_001371157.1:c.2561C>T, NM_001371141.1:c.2552C>T, NM_001371161.1:c.2609C>T, NM_001371179.1:c.2291C>T, NM_001371160.1:c.2591C>T, NM_001371135.1:c.2552C>T, NM_001371159.1:c.2579C>T, NM_001371147.1:c.2264C>T, NM_001371174.1:c.2579C>T, NM_001371152.1:c.2561C>T, NM_001371129.1:c.2552C>T, NM_001371134.1:c.2558C>T, NM_001371142.1:c.2264C>T, NM_001371123.1:c.2609C>T, NM_001371181.1:c.2552C>T, NM_001371166.1:c.2552C>T, NM_001371122.1:c.2552C>T, NM_001371182.1:c.2504C>T, NM_001371151.1:c.2561C>T, NM_001371137.1:c.1652C>T, NM_001371125.1:c.2264C>T, NM_001371154.1:c.2552C>T, NM_001371170.1:c.2291C>T, NM_001371148.1:c.2291C>T, NM_001371177.1:c.2552C>T, NM_001371176.1:c.2561C>T, NM_001371178.1:c.2561C>T, NM_001371175.1:c.2561C>T, NM_001371180.1:c.2291C>T, XM_011516265.4:c.2609C>T, XM_011516265.3:c.2609C>T, XM_011516265.2:c.2609C>T, XM_011516265.1:c.2609C>T, XM_011516253.3:c.2609C>T, XM_011516253.2:c.2609C>T, XM_011516253.1:c.2609C>T, XM_006716003.3:c.2609C>T, XM_006716003.2:c.2609C>T, XM_006716003.1:c.2609C>T, XM_011516257.3:c.2591C>T, XM_011516257.2:c.2591C>T, XM_011516257.1:c.2591C>T, XM_011516259.3:c.2579C>T, XM_011516259.2:c.2579C>T, XM_011516259.1:c.2579C>T, XM_017012236.3:c.2579C>T, XM_017012236.2:c.2579C>T, XM_017012236.1:c.2579C>T, XM_011516261.3:c.2561C>T, XM_011516261.2:c.2561C>T, XM_011516261.1:c.2561C>T, XM_011516262.3:c.2552C>T, XM_011516262.2:c.2552C>T, XM_011516262.1:c.2552C>T, XM_017012238.3:c.2552C>T, XM_017012238.2:c.2552C>T, XM_017012238.1:c.2552C>T, XM_017012239.3:c.2534C>T, XM_017012239.2:c.2534C>T, XM_017012239.1:c.2534C>T, XM_011516268.3:c.2321C>T, XM_011516268.2:c.2321C>T, XM_011516268.1:c.2321C>T, XM_011516267.3:c.2609C>T, XM_011516267.2:c.2609C>T, XM_011516267.1:c.2609C>T, XM_006716012.3:c.2609C>T, XM_006716012.2:c.2609C>T, XM_006716012.1:c.2609C>T, XM_011516269.3:c.2609C>T, XM_011516269.2:c.2609C>T, XM_011516269.1:c.2609C>T, XM_017012246.3:c.2579C>T, XM_017012246.2:c.2579C>T, XM_017012246.1:c.2579C>T, XM_006716014.3:c.2609C>T, XM_006716014.2:c.2609C>T, XM_006716014.1:c.2609C>T, XM_011516270.3:c.2609C>T, XM_011516270.2:c.2609C>T, XM_011516270.1:c.2609C>T, XM_017012248.3:c.2579C>T, XM_017012248.2:c.2579C>T, XM_017012248.1:c.2579C>T, XM_017012247.3:c.2552C>T, XM_017012247.2:c.2552C>T, XM_017012247.1:c.2552C>T, XM_017012251.3:c.2579C>T, XM_017012251.2:c.2579C>T, XM_017012251.1:c.2579C>T, XM_011516255.2:c.2609C>T, XM_011516255.1:c.2609C>T, XM_011516258.2:c.2591C>T, XM_011516258.1:c.2591C>T, XM_024446777.2:c.2591C>T, XM_024446777.1:c.2591C>T, XM_024446778.2:c.2561C>T, XM_024446778.1:c.2561C>T, XM_024446779.2:c.2504C>T, XM_024446779.1:c.2504C>T, XM_024446780.2:c.2609C>T, XM_024446780.1:c.2609C>T, XM_047420417.1:c.2561C>T, XM_047420418.1:c.2522C>T, XM_047420419.1:c.2579C>T, XM_047420420.1:c.2552C>T, XM_047420422.1:c.2504C>T, XM_047420424.1:c.2534C>T, XM_047420421.1:c.2522C>T, XM_047420423.1:c.2522C>T, XM_047420425.1:c.2504C>T, NP_005001.3:p.Pro854Leu, NP_001032209.1:p.Pro870Leu, NP_001180511.1:p.Pro870Leu, NP_001180512.1:p.Pro851Leu, NP_001180513.1:p.Pro851Leu, NP_001358055.1:p.Pro851Leu, NP_001358092.1:p.Pro851Leu, NP_001358060.1:p.Pro870Leu, NP_001358085.1:p.Pro870Leu, NP_001358073.1:p.Pro870Leu, NP_001358098.1:p.Pro870Leu, NP_001358101.1:p.Pro851Leu, NP_001358075.1:p.Pro851Leu, NP_001358062.1:p.Pro854Leu, NP_001358097.1:p.Pro870Leu, NP_001358082.1:p.Pro870Leu, NP_001358057.1:p.Pro870Leu, NP_001358067.1:p.Pro870Leu, NP_001358094.1:p.Pro851Leu, NP_001358068.1:p.Pro851Leu, NP_001358087.1:p.Pro851Leu, NP_001358084.1:p.Pro851Leu, NP_001358048.1:p.Pro851Leu, NP_001358053.1:p.Pro851Leu, NP_001358074.1:p.Pro851Leu, NP_001358096.1:p.Pro851Leu, NP_001358091.1:p.Pro851Leu, NP_001358065.1:p.Pro854Leu, NP_001358061.1:p.Pro851Leu, NP_001358069.1:p.Pro851Leu, NP_001358100.1:p.Pro854Leu, NP_001358072.1:p.Pro755Leu, NP_001358078.1:p.Pro870Leu, NP_001358056.1:p.Pro869Leu, NP_001358059.1:p.Pro854Leu, NP_001358079.1:p.Pro860Leu, NP_001358093.1:p.Pro755Leu, NP_001358102.1:p.Pro870Leu, NP_001358086.1:p.Pro854Leu, NP_001358070.1:p.Pro851Leu, NP_001358090.1:p.Pro870Leu, NP_001358108.1:p.Pro764Leu, NP_001358089.1:p.Pro864Leu, NP_001358064.1:p.Pro851Leu, NP_001358088.1:p.Pro860Leu, NP_001358076.1:p.Pro755Leu, NP_001358103.1:p.Pro860Leu, NP_001358081.1:p.Pro854Leu, NP_001358058.1:p.Pro851Leu, NP_001358063.1:p.Pro853Leu, NP_001358071.1:p.Pro755Leu, NP_001358052.1:p.Pro870Leu, NP_001358110.1:p.Pro851Leu, NP_001358095.1:p.Pro851Leu, NP_001358051.1:p.Pro851Leu, NP_001358111.1:p.Pro835Leu, NP_001358080.1:p.Pro854Leu, NP_001358066.1:p.Pro551Leu, NP_001358054.1:p.Pro755Leu, NP_001358083.1:p.Pro851Leu, NP_001358099.1:p.Pro764Leu, NP_001358077.1:p.Pro764Leu, NP_001358106.1:p.Pro851Leu, NP_001358105.1:p.Pro854Leu, NP_001358107.1:p.Pro854Leu, NP_001358104.1:p.Pro854Leu, NP_001358109.1:p.Pro764Leu, XP_011514567.1:p.Pro870Leu, XP_011514555.1:p.Pro870Leu, XP_006716066.1:p.Pro870Leu, XP_011514559.1:p.Pro864Leu, XP_011514561.1:p.Pro860Leu, XP_016867725.1:p.Pro860Leu, XP_011514563.1:p.Pro854Leu, XP_011514564.1:p.Pro851Leu, XP_016867727.1:p.Pro851Leu, XP_016867728.1:p.Pro845Leu, XP_011514570.1:p.Pro774Leu, XP_011514569.1:p.Pro870Leu, XP_006716075.1:p.Pro870Leu, XP_011514571.1:p.Pro870Leu, XP_016867735.1:p.Pro860Leu, XP_006716077.1:p.Pro870Leu, XP_011514572.1:p.Pro870Leu, XP_016867737.1:p.Pro860Leu, XP_016867736.1:p.Pro851Leu, XP_016867740.1:p.Pro860Leu, XP_011514557.1:p.Pro870Leu, XP_011514560.1:p.Pro864Leu, XP_024302545.1:p.Pro864Leu, XP_024302546.1:p.Pro854Leu, XP_024302547.1:p.Pro835Leu, XP_024302548.1:p.Pro870Leu, XP_047276373.1:p.Pro854Leu, XP_047276374.1:p.Pro841Leu, XP_047276375.1:p.Pro860Leu, XP_047276376.1:p.Pro851Leu, XP_047276378.1:p.Pro835Leu, XP_047276380.1:p.Pro845Leu, XP_047276377.1:p.Pro841Leu, XP_047276379.1:p.Pro841Leu, XP_047276381.1:p.Pro835Leu

    2.

    rs1489720691 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:108168380 (GRCh38)
      7:107808825 (GRCh37)
      Canonical SPDI:
      NC_000007.14:108168379:G:A
      Gene:
      NRCAM (Varview), LOC102724363 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.108168380G>A, NC_000007.13:g.107808825G>A, NG_029898.2:g.293338C>T, NM_001037132.4:c.3210C>T, NM_001037132.3:c.3210C>T, NM_001037132.2:c.3210C>T, NM_001371126.1:c.3153C>T, NM_001371131.1:c.3210C>T, NR_163868.1:n.3687C>T, NM_001371156.1:c.3219C>T, NM_001371169.1:c.3174C>T, NM_001371172.1:c.3153C>T, NM_001371146.1:c.3117C>T, NM_001371119.1:c.3162C>T, NM_001371124.1:c.3153C>T, NM_001371145.1:c.3153C>T, NM_001371136.1:c.3126C>T, NM_001371140.1:c.3117C>T, NM_001371143.1:c.2865C>T, NM_001371164.1:c.2865C>T, XM_011516265.4:c.3219C>T, XM_011516265.3:c.3219C>T, XM_011516265.2:c.3219C>T, XM_011516265.1:c.3219C>T, XM_011516253.3:c.3219C>T, XM_011516253.2:c.3219C>T, XM_011516253.1:c.3219C>T, XM_006716003.3:c.3210C>T, XM_006716003.2:c.3210C>T, XM_006716003.1:c.3210C>T, XM_011516257.3:c.3201C>T, XM_011516257.2:c.3201C>T, XM_011516257.1:c.3201C>T, XM_011516259.3:c.3189C>T, XM_011516259.2:c.3189C>T, XM_011516259.1:c.3189C>T, XM_017012236.3:c.3180C>T, XM_017012236.2:c.3180C>T, XM_017012236.1:c.3180C>T, XM_011516261.3:c.3171C>T, XM_011516261.2:c.3171C>T, XM_011516261.1:c.3171C>T, XM_011516262.3:c.3162C>T, XM_011516262.2:c.3162C>T, XM_011516262.1:c.3162C>T, XM_017012238.3:c.3162C>T, XM_017012238.2:c.3162C>T, XM_017012238.1:c.3162C>T, XM_017012239.3:c.3144C>T, XM_017012239.2:c.3144C>T, XM_017012239.1:c.3144C>T, XM_011516268.3:c.2931C>T, XM_011516268.2:c.2931C>T, XM_011516268.1:c.2931C>T, XM_011516255.2:c.3219C>T, XM_011516255.1:c.3219C>T, XM_011516258.2:c.3201C>T, XM_011516258.1:c.3201C>T, XM_047420417.1:c.3162C>T, XM_047420418.1:c.3132C>T

      3.

      rs1489342906 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        7:108191791 (GRCh38)
        7:107832235 (GRCh37)
        Canonical SPDI:
        NC_000007.14:108191790:T:A
        Gene:
        NRCAM (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.108191791T>A, NC_000007.13:g.107832235T>A, NG_029898.2:g.269927A>T, NM_005010.5:c.1823A>T, NM_005010.4:c.1823A>T, NM_001037132.4:c.1841A>T, NM_001037132.3:c.1841A>T, NM_001037132.2:c.1841A>T, NM_001193582.2:c.1841A>T, NM_001193582.1:c.1841A>T, NM_001193583.2:c.1784A>T, NM_001193583.1:c.1784A>T, NM_001193584.2:c.1784A>T, NM_001193584.1:c.1784A>T, NM_001371126.1:c.1784A>T, NM_001371163.1:c.1784A>T, NM_001371131.1:c.1841A>T, NR_163868.1:n.2309A>T, NM_001371156.1:c.1841A>T, NM_001371144.1:c.1841A>T, NM_001371169.1:c.1841A>T, NM_001371172.1:c.1784A>T, NM_001371146.1:c.1784A>T, NM_001371133.1:c.1823A>T, NR_163869.1:n.2309A>T, NM_001371168.1:c.1841A>T, NM_001371153.1:c.1841A>T, NM_001371128.1:c.1841A>T, NM_001371138.1:c.1841A>T, NM_001371165.1:c.1784A>T, NM_001371139.1:c.1784A>T, NM_001371158.1:c.1784A>T, NM_001371155.1:c.1784A>T, NM_001371119.1:c.1784A>T, NM_001371124.1:c.1784A>T, NM_001371145.1:c.1784A>T, NM_001371167.1:c.1784A>T, NM_001371162.1:c.1784A>T, NR_163871.1:n.2418A>T, NM_001371136.1:c.1823A>T, NM_001371132.1:c.1784A>T, NM_001371140.1:c.1784A>T, NM_001371171.1:c.1823A>T, NM_001371143.1:c.1496A>T, NM_001371149.1:c.1841A>T, NR_163867.1:n.2309A>T, NR_163870.1:n.2348A>T, NM_001371127.1:c.1838A>T, NM_001371130.1:c.1823A>T, NM_001371150.1:c.1841A>T, NM_001371164.1:c.1496A>T, NM_001371173.1:c.1841A>T, NM_001371157.1:c.1823A>T, NM_001371141.1:c.1784A>T, NM_001371161.1:c.1841A>T, NM_001371179.1:c.1553A>T, NM_001371160.1:c.1823A>T, NM_001371135.1:c.1784A>T, NM_001371159.1:c.1841A>T, NM_001371147.1:c.1496A>T, NM_001371174.1:c.1841A>T, NM_001371152.1:c.1823A>T, NM_001371129.1:c.1784A>T, NM_001371134.1:c.1820A>T, NM_001371142.1:c.1496A>T, NM_001371123.1:c.1841A>T, NM_001371181.1:c.1784A>T, NM_001371166.1:c.1784A>T, NM_001371122.1:c.1784A>T, NM_001371182.1:c.1766A>T, NM_001371151.1:c.1823A>T, NM_001371137.1:c.914A>T, NM_001371125.1:c.1496A>T, NM_001371154.1:c.1784A>T, NM_001371170.1:c.1553A>T, NM_001371148.1:c.1553A>T, NM_001371177.1:c.1784A>T, NM_001371176.1:c.1823A>T, NM_001371178.1:c.1823A>T, NM_001371175.1:c.1823A>T, NM_001371180.1:c.1553A>T, XM_011516265.4:c.1841A>T, XM_011516265.3:c.1841A>T, XM_011516265.2:c.1841A>T, XM_011516265.1:c.1841A>T, XM_011516253.3:c.1841A>T, XM_011516253.2:c.1841A>T, XM_011516253.1:c.1841A>T, XM_006716003.3:c.1841A>T, XM_006716003.2:c.1841A>T, XM_006716003.1:c.1841A>T, XM_011516257.3:c.1823A>T, XM_011516257.2:c.1823A>T, XM_011516257.1:c.1823A>T, XM_011516259.3:c.1841A>T, XM_011516259.2:c.1841A>T, XM_011516259.1:c.1841A>T, XM_017012236.3:c.1841A>T, XM_017012236.2:c.1841A>T, XM_017012236.1:c.1841A>T, XM_011516261.3:c.1823A>T, XM_011516261.2:c.1823A>T, XM_011516261.1:c.1823A>T, XM_011516262.3:c.1784A>T, XM_011516262.2:c.1784A>T, XM_011516262.1:c.1784A>T, XM_017012238.3:c.1784A>T, XM_017012238.2:c.1784A>T, XM_017012238.1:c.1784A>T, XM_017012239.3:c.1766A>T, XM_017012239.2:c.1766A>T, XM_017012239.1:c.1766A>T, XM_011516268.3:c.1553A>T, XM_011516268.2:c.1553A>T, XM_011516268.1:c.1553A>T, XM_011516267.3:c.1841A>T, XM_011516267.2:c.1841A>T, XM_011516267.1:c.1841A>T, XM_006716012.3:c.1841A>T, XM_006716012.2:c.1841A>T, XM_006716012.1:c.1841A>T, XM_011516269.3:c.1841A>T, XM_011516269.2:c.1841A>T, XM_011516269.1:c.1841A>T, XM_017012246.3:c.1841A>T, XM_017012246.2:c.1841A>T, XM_017012246.1:c.1841A>T, XM_006716014.3:c.1841A>T, XM_006716014.2:c.1841A>T, XM_006716014.1:c.1841A>T, XM_011516270.3:c.1841A>T, XM_011516270.2:c.1841A>T, XM_011516270.1:c.1841A>T, XM_017012248.3:c.1841A>T, XM_017012248.2:c.1841A>T, XM_017012248.1:c.1841A>T, XM_017012247.3:c.1784A>T, XM_017012247.2:c.1784A>T, XM_017012247.1:c.1784A>T, XM_017012251.3:c.1841A>T, XM_017012251.2:c.1841A>T, XM_017012251.1:c.1841A>T, XM_011516255.2:c.1841A>T, XM_011516255.1:c.1841A>T, XM_011516258.2:c.1823A>T, XM_011516258.1:c.1823A>T, XM_024446777.2:c.1823A>T, XM_024446777.1:c.1823A>T, XM_024446778.2:c.1823A>T, XM_024446778.1:c.1823A>T, XM_024446779.2:c.1766A>T, XM_024446779.1:c.1766A>T, XM_024446780.2:c.1841A>T, XM_024446780.1:c.1841A>T, XM_047420417.1:c.1823A>T, XM_047420418.1:c.1784A>T, XM_047420419.1:c.1841A>T, XM_047420420.1:c.1784A>T, XM_047420422.1:c.1766A>T, XM_047420424.1:c.1766A>T, XM_047420421.1:c.1784A>T, XM_047420423.1:c.1784A>T, XM_047420425.1:c.1766A>T, NP_005001.3:p.Tyr608Phe, NP_001032209.1:p.Tyr614Phe, NP_001180511.1:p.Tyr614Phe, NP_001180512.1:p.Tyr595Phe, NP_001180513.1:p.Tyr595Phe, NP_001358055.1:p.Tyr595Phe, NP_001358092.1:p.Tyr595Phe, NP_001358060.1:p.Tyr614Phe, NP_001358085.1:p.Tyr614Phe, NP_001358073.1:p.Tyr614Phe, NP_001358098.1:p.Tyr614Phe, NP_001358101.1:p.Tyr595Phe, NP_001358075.1:p.Tyr595Phe, NP_001358062.1:p.Tyr608Phe, NP_001358097.1:p.Tyr614Phe, NP_001358082.1:p.Tyr614Phe, NP_001358057.1:p.Tyr614Phe, NP_001358067.1:p.Tyr614Phe, NP_001358094.1:p.Tyr595Phe, NP_001358068.1:p.Tyr595Phe, NP_001358087.1:p.Tyr595Phe, NP_001358084.1:p.Tyr595Phe, NP_001358048.1:p.Tyr595Phe, NP_001358053.1:p.Tyr595Phe, NP_001358074.1:p.Tyr595Phe, NP_001358096.1:p.Tyr595Phe, NP_001358091.1:p.Tyr595Phe, NP_001358065.1:p.Tyr608Phe, NP_001358061.1:p.Tyr595Phe, NP_001358069.1:p.Tyr595Phe, NP_001358100.1:p.Tyr608Phe, NP_001358072.1:p.Tyr499Phe, NP_001358078.1:p.Tyr614Phe, NP_001358056.1:p.Tyr613Phe, NP_001358059.1:p.Tyr608Phe, NP_001358079.1:p.Tyr614Phe, NP_001358093.1:p.Tyr499Phe, NP_001358102.1:p.Tyr614Phe, NP_001358086.1:p.Tyr608Phe, NP_001358070.1:p.Tyr595Phe, NP_001358090.1:p.Tyr614Phe, NP_001358108.1:p.Tyr518Phe, NP_001358089.1:p.Tyr608Phe, NP_001358064.1:p.Tyr595Phe, NP_001358088.1:p.Tyr614Phe, NP_001358076.1:p.Tyr499Phe, NP_001358103.1:p.Tyr614Phe, NP_001358081.1:p.Tyr608Phe, NP_001358058.1:p.Tyr595Phe, NP_001358063.1:p.Tyr607Phe, NP_001358071.1:p.Tyr499Phe, NP_001358052.1:p.Tyr614Phe, NP_001358110.1:p.Tyr595Phe, NP_001358095.1:p.Tyr595Phe, NP_001358051.1:p.Tyr595Phe, NP_001358111.1:p.Tyr589Phe, NP_001358080.1:p.Tyr608Phe, NP_001358066.1:p.Tyr305Phe, NP_001358054.1:p.Tyr499Phe, NP_001358083.1:p.Tyr595Phe, NP_001358099.1:p.Tyr518Phe, NP_001358077.1:p.Tyr518Phe, NP_001358106.1:p.Tyr595Phe, NP_001358105.1:p.Tyr608Phe, NP_001358107.1:p.Tyr608Phe, NP_001358104.1:p.Tyr608Phe, NP_001358109.1:p.Tyr518Phe, XP_011514567.1:p.Tyr614Phe, XP_011514555.1:p.Tyr614Phe, XP_006716066.1:p.Tyr614Phe, XP_011514559.1:p.Tyr608Phe, XP_011514561.1:p.Tyr614Phe, XP_016867725.1:p.Tyr614Phe, XP_011514563.1:p.Tyr608Phe, XP_011514564.1:p.Tyr595Phe, XP_016867727.1:p.Tyr595Phe, XP_016867728.1:p.Tyr589Phe, XP_011514570.1:p.Tyr518Phe, XP_011514569.1:p.Tyr614Phe, XP_006716075.1:p.Tyr614Phe, XP_011514571.1:p.Tyr614Phe, XP_016867735.1:p.Tyr614Phe, XP_006716077.1:p.Tyr614Phe, XP_011514572.1:p.Tyr614Phe, XP_016867737.1:p.Tyr614Phe, XP_016867736.1:p.Tyr595Phe, XP_016867740.1:p.Tyr614Phe, XP_011514557.1:p.Tyr614Phe, XP_011514560.1:p.Tyr608Phe, XP_024302545.1:p.Tyr608Phe, XP_024302546.1:p.Tyr608Phe, XP_024302547.1:p.Tyr589Phe, XP_024302548.1:p.Tyr614Phe, XP_047276373.1:p.Tyr608Phe, XP_047276374.1:p.Tyr595Phe, XP_047276375.1:p.Tyr614Phe, XP_047276376.1:p.Tyr595Phe, XP_047276378.1:p.Tyr589Phe, XP_047276380.1:p.Tyr589Phe, XP_047276377.1:p.Tyr595Phe, XP_047276379.1:p.Tyr595Phe, XP_047276381.1:p.Tyr589Phe

        4.

        rs1489130660 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          7:108240040 (GRCh38)
          7:107880484 (GRCh37)
          Canonical SPDI:
          NC_000007.14:108240039:T:C
          Gene:
          NRCAM (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.108240040T>C, NC_000007.13:g.107880484T>C, NG_029898.2:g.221678A>G, NM_005010.5:c.25A>G, NM_005010.4:c.25A>G, NM_001037132.4:c.25A>G, NM_001037132.3:c.25A>G, NM_001037132.2:c.25A>G, NM_001193582.2:c.25A>G, NM_001193582.1:c.25A>G, NM_001193583.2:c.25A>G, NM_001193583.1:c.25A>G, NM_001193584.2:c.25A>G, NM_001193584.1:c.25A>G, NM_001371126.1:c.25A>G, NM_001371163.1:c.25A>G, NM_001371131.1:c.25A>G, NR_163868.1:n.550A>G, NM_001371156.1:c.25A>G, NM_001371144.1:c.25A>G, NM_001371169.1:c.25A>G, NM_001371172.1:c.25A>G, NM_001371146.1:c.25A>G, NM_001371133.1:c.25A>G, NR_163869.1:n.550A>G, NM_001371168.1:c.25A>G, NM_001371153.1:c.25A>G, NM_001371128.1:c.25A>G, NM_001371138.1:c.25A>G, NM_001371165.1:c.25A>G, NM_001371139.1:c.25A>G, NM_001371158.1:c.25A>G, NM_001371155.1:c.25A>G, NM_001371119.1:c.25A>G, NM_001371124.1:c.25A>G, NM_001371145.1:c.25A>G, NM_001371167.1:c.25A>G, NM_001371162.1:c.25A>G, NR_163871.1:n.620A>G, NM_001371136.1:c.25A>G, NM_001371132.1:c.25A>G, NM_001371140.1:c.25A>G, NM_001371171.1:c.25A>G, NM_001371149.1:c.25A>G, NR_163867.1:n.550A>G, NR_163870.1:n.550A>G, NM_001371127.1:c.25A>G, NM_001371130.1:c.25A>G, NM_001371150.1:c.25A>G, NM_001371173.1:c.25A>G, NM_001371157.1:c.25A>G, NM_001371141.1:c.25A>G, NM_001371161.1:c.25A>G, NM_001371179.1:c.-535A>G, NM_001371160.1:c.25A>G, NM_001371135.1:c.25A>G, NM_001371159.1:c.25A>G, NM_001371147.1:c.-256A>G, NM_001371174.1:c.25A>G, NM_001371152.1:c.25A>G, NM_001371129.1:c.25A>G, NM_001371134.1:c.25A>G, NM_001371142.1:c.-256A>G, NM_001371123.1:c.25A>G, NM_001371181.1:c.25A>G, NM_001371166.1:c.25A>G, NM_001371122.1:c.25A>G, NM_001371182.1:c.25A>G, NM_001371151.1:c.25A>G, NM_001371137.1:c.-716A>G, NM_001371154.1:c.25A>G, NM_001371177.1:c.25A>G, NM_001371176.1:c.25A>G, NM_001371178.1:c.25A>G, NM_001371175.1:c.25A>G, XM_011516265.4:c.25A>G, XM_011516265.3:c.25A>G, XM_011516265.2:c.25A>G, XM_011516265.1:c.25A>G, XM_011516253.3:c.25A>G, XM_011516253.2:c.25A>G, XM_011516253.1:c.25A>G, XM_006716003.3:c.25A>G, XM_006716003.2:c.25A>G, XM_006716003.1:c.25A>G, XM_011516257.3:c.25A>G, XM_011516257.2:c.25A>G, XM_011516257.1:c.25A>G, XM_011516259.3:c.25A>G, XM_011516259.2:c.25A>G, XM_011516259.1:c.25A>G, XM_017012236.3:c.25A>G, XM_017012236.2:c.25A>G, XM_017012236.1:c.25A>G, XM_011516261.3:c.25A>G, XM_011516261.2:c.25A>G, XM_011516261.1:c.25A>G, XM_011516262.3:c.25A>G, XM_011516262.2:c.25A>G, XM_011516262.1:c.25A>G, XM_017012238.3:c.25A>G, XM_017012238.2:c.25A>G, XM_017012238.1:c.25A>G, XM_017012239.3:c.25A>G, XM_017012239.2:c.25A>G, XM_017012239.1:c.25A>G, XM_011516267.3:c.25A>G, XM_011516267.2:c.25A>G, XM_011516267.1:c.25A>G, XM_006716012.3:c.25A>G, XM_006716012.2:c.25A>G, XM_006716012.1:c.25A>G, XM_011516269.3:c.25A>G, XM_011516269.2:c.25A>G, XM_011516269.1:c.25A>G, XM_017012246.3:c.25A>G, XM_017012246.2:c.25A>G, XM_017012246.1:c.25A>G, XM_006716014.3:c.25A>G, XM_006716014.2:c.25A>G, XM_006716014.1:c.25A>G, XM_011516270.3:c.25A>G, XM_011516270.2:c.25A>G, XM_011516270.1:c.25A>G, XM_017012248.3:c.25A>G, XM_017012248.2:c.25A>G, XM_017012248.1:c.25A>G, XM_017012247.3:c.25A>G, XM_017012247.2:c.25A>G, XM_017012247.1:c.25A>G, XM_017012251.3:c.25A>G, XM_017012251.2:c.25A>G, XM_017012251.1:c.25A>G, XM_011516255.2:c.25A>G, XM_011516255.1:c.25A>G, XM_011516258.2:c.25A>G, XM_011516258.1:c.25A>G, XM_024446777.2:c.25A>G, XM_024446777.1:c.25A>G, XM_024446778.2:c.25A>G, XM_024446778.1:c.25A>G, XM_024446779.2:c.25A>G, XM_024446779.1:c.25A>G, XM_024446780.2:c.25A>G, XM_024446780.1:c.25A>G, XM_047420417.1:c.25A>G, XM_047420418.1:c.25A>G, XM_047420419.1:c.25A>G, XM_047420420.1:c.25A>G, XM_047420422.1:c.25A>G, XM_047420424.1:c.25A>G, XM_047420421.1:c.25A>G, XM_047420423.1:c.25A>G, XM_047420425.1:c.25A>G, NP_005001.3:p.Lys9Glu, NP_001032209.1:p.Lys9Glu, NP_001180511.1:p.Lys9Glu, NP_001180512.1:p.Lys9Glu, NP_001180513.1:p.Lys9Glu, NP_001358055.1:p.Lys9Glu, NP_001358092.1:p.Lys9Glu, NP_001358060.1:p.Lys9Glu, NP_001358085.1:p.Lys9Glu, NP_001358073.1:p.Lys9Glu, NP_001358098.1:p.Lys9Glu, NP_001358101.1:p.Lys9Glu, NP_001358075.1:p.Lys9Glu, NP_001358062.1:p.Lys9Glu, NP_001358097.1:p.Lys9Glu, NP_001358082.1:p.Lys9Glu, NP_001358057.1:p.Lys9Glu, NP_001358067.1:p.Lys9Glu, NP_001358094.1:p.Lys9Glu, NP_001358068.1:p.Lys9Glu, NP_001358087.1:p.Lys9Glu, NP_001358084.1:p.Lys9Glu, NP_001358048.1:p.Lys9Glu, NP_001358053.1:p.Lys9Glu, NP_001358074.1:p.Lys9Glu, NP_001358096.1:p.Lys9Glu, NP_001358091.1:p.Lys9Glu, NP_001358065.1:p.Lys9Glu, NP_001358061.1:p.Lys9Glu, NP_001358069.1:p.Lys9Glu, NP_001358100.1:p.Lys9Glu, NP_001358078.1:p.Lys9Glu, NP_001358056.1:p.Lys9Glu, NP_001358059.1:p.Lys9Glu, NP_001358079.1:p.Lys9Glu, NP_001358102.1:p.Lys9Glu, NP_001358086.1:p.Lys9Glu, NP_001358070.1:p.Lys9Glu, NP_001358090.1:p.Lys9Glu, NP_001358089.1:p.Lys9Glu, NP_001358064.1:p.Lys9Glu, NP_001358088.1:p.Lys9Glu, NP_001358103.1:p.Lys9Glu, NP_001358081.1:p.Lys9Glu, NP_001358058.1:p.Lys9Glu, NP_001358063.1:p.Lys9Glu, NP_001358052.1:p.Lys9Glu, NP_001358110.1:p.Lys9Glu, NP_001358095.1:p.Lys9Glu, NP_001358051.1:p.Lys9Glu, NP_001358111.1:p.Lys9Glu, NP_001358080.1:p.Lys9Glu, NP_001358083.1:p.Lys9Glu, NP_001358106.1:p.Lys9Glu, NP_001358105.1:p.Lys9Glu, NP_001358107.1:p.Lys9Glu, NP_001358104.1:p.Lys9Glu, XP_011514567.1:p.Lys9Glu, XP_011514555.1:p.Lys9Glu, XP_006716066.1:p.Lys9Glu, XP_011514559.1:p.Lys9Glu, XP_011514561.1:p.Lys9Glu, XP_016867725.1:p.Lys9Glu, XP_011514563.1:p.Lys9Glu, XP_011514564.1:p.Lys9Glu, XP_016867727.1:p.Lys9Glu, XP_016867728.1:p.Lys9Glu, XP_011514569.1:p.Lys9Glu, XP_006716075.1:p.Lys9Glu, XP_011514571.1:p.Lys9Glu, XP_016867735.1:p.Lys9Glu, XP_006716077.1:p.Lys9Glu, XP_011514572.1:p.Lys9Glu, XP_016867737.1:p.Lys9Glu, XP_016867736.1:p.Lys9Glu, XP_016867740.1:p.Lys9Glu, XP_011514557.1:p.Lys9Glu, XP_011514560.1:p.Lys9Glu, XP_024302545.1:p.Lys9Glu, XP_024302546.1:p.Lys9Glu, XP_024302547.1:p.Lys9Glu, XP_024302548.1:p.Lys9Glu, XP_047276373.1:p.Lys9Glu, XP_047276374.1:p.Lys9Glu, XP_047276375.1:p.Lys9Glu, XP_047276376.1:p.Lys9Glu, XP_047276378.1:p.Lys9Glu, XP_047276380.1:p.Lys9Glu, XP_047276377.1:p.Lys9Glu, XP_047276379.1:p.Lys9Glu, XP_047276381.1:p.Lys9Glu

          5.

          rs1488365766 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:108189720 (GRCh38)
            7:107830164 (GRCh37)
            Canonical SPDI:
            NC_000007.14:108189719:C:T
            Gene:
            NRCAM (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.108189720C>T, NC_000007.13:g.107830164C>T, NG_029898.2:g.271998G>A, NM_005010.5:c.1912G>A, NM_005010.4:c.1912G>A, NM_001037132.4:c.1960G>A, NM_001037132.3:c.1960G>A, NM_001037132.2:c.1960G>A, NM_001193582.2:c.1960G>A, NM_001193582.1:c.1960G>A, NM_001193583.2:c.1903G>A, NM_001193583.1:c.1903G>A, NM_001193584.2:c.1903G>A, NM_001193584.1:c.1903G>A, NM_001371126.1:c.1903G>A, NM_001371163.1:c.1903G>A, NM_001371131.1:c.1960G>A, NR_163868.1:n.2428G>A, NM_001371156.1:c.1960G>A, NM_001371144.1:c.1960G>A, NM_001371169.1:c.1960G>A, NM_001371172.1:c.1903G>A, NM_001371146.1:c.1903G>A, NM_001371133.1:c.1912G>A, NR_163869.1:n.2428G>A, NM_001371168.1:c.1960G>A, NM_001371153.1:c.1960G>A, NM_001371128.1:c.1960G>A, NM_001371138.1:c.1960G>A, NM_001371165.1:c.1903G>A, NM_001371139.1:c.1903G>A, NM_001371158.1:c.1903G>A, NM_001371155.1:c.1903G>A, NM_001371119.1:c.1903G>A, NM_001371124.1:c.1903G>A, NM_001371145.1:c.1903G>A, NM_001371167.1:c.1903G>A, NM_001371162.1:c.1903G>A, NR_163871.1:n.2507G>A, NM_001371136.1:c.1912G>A, NM_001371132.1:c.1903G>A, NM_001371140.1:c.1903G>A, NM_001371171.1:c.1912G>A, NM_001371143.1:c.1615G>A, NM_001371149.1:c.1960G>A, NR_163867.1:n.2428G>A, NR_163870.1:n.2437G>A, NM_001371127.1:c.1957G>A, NM_001371130.1:c.1912G>A, NM_001371150.1:c.1930G>A, NM_001371164.1:c.1615G>A, NM_001371173.1:c.1960G>A, NM_001371157.1:c.1912G>A, NM_001371141.1:c.1903G>A, NM_001371161.1:c.1960G>A, NM_001371179.1:c.1642G>A, NM_001371160.1:c.1942G>A, NM_001371135.1:c.1903G>A, NM_001371159.1:c.1930G>A, NM_001371147.1:c.1615G>A, NM_001371174.1:c.1930G>A, NM_001371152.1:c.1912G>A, NM_001371129.1:c.1903G>A, NM_001371134.1:c.1909G>A, NM_001371142.1:c.1615G>A, NM_001371123.1:c.1960G>A, NM_001371181.1:c.1903G>A, NM_001371166.1:c.1903G>A, NM_001371122.1:c.1903G>A, NM_001371182.1:c.1855G>A, NM_001371151.1:c.1912G>A, NM_001371137.1:c.1003G>A, NM_001371125.1:c.1615G>A, NM_001371154.1:c.1903G>A, NM_001371170.1:c.1642G>A, NM_001371148.1:c.1642G>A, NM_001371177.1:c.1903G>A, NM_001371176.1:c.1912G>A, NM_001371178.1:c.1912G>A, NM_001371175.1:c.1912G>A, NM_001371180.1:c.1642G>A, XM_011516265.4:c.1960G>A, XM_011516265.3:c.1960G>A, XM_011516265.2:c.1960G>A, XM_011516265.1:c.1960G>A, XM_011516253.3:c.1960G>A, XM_011516253.2:c.1960G>A, XM_011516253.1:c.1960G>A, XM_006716003.3:c.1960G>A, XM_006716003.2:c.1960G>A, XM_006716003.1:c.1960G>A, XM_011516257.3:c.1942G>A, XM_011516257.2:c.1942G>A, XM_011516257.1:c.1942G>A, XM_011516259.3:c.1930G>A, XM_011516259.2:c.1930G>A, XM_011516259.1:c.1930G>A, XM_017012236.3:c.1930G>A, XM_017012236.2:c.1930G>A, XM_017012236.1:c.1930G>A, XM_011516261.3:c.1912G>A, XM_011516261.2:c.1912G>A, XM_011516261.1:c.1912G>A, XM_011516262.3:c.1903G>A, XM_011516262.2:c.1903G>A, XM_011516262.1:c.1903G>A, XM_017012238.3:c.1903G>A, XM_017012238.2:c.1903G>A, XM_017012238.1:c.1903G>A, XM_017012239.3:c.1885G>A, XM_017012239.2:c.1885G>A, XM_017012239.1:c.1885G>A, XM_011516268.3:c.1672G>A, XM_011516268.2:c.1672G>A, XM_011516268.1:c.1672G>A, XM_011516267.3:c.1960G>A, XM_011516267.2:c.1960G>A, XM_011516267.1:c.1960G>A, XM_006716012.3:c.1960G>A, XM_006716012.2:c.1960G>A, XM_006716012.1:c.1960G>A, XM_011516269.3:c.1960G>A, XM_011516269.2:c.1960G>A, XM_011516269.1:c.1960G>A, XM_017012246.3:c.1930G>A, XM_017012246.2:c.1930G>A, XM_017012246.1:c.1930G>A, XM_006716014.3:c.1960G>A, XM_006716014.2:c.1960G>A, XM_006716014.1:c.1960G>A, XM_011516270.3:c.1960G>A, XM_011516270.2:c.1960G>A, XM_011516270.1:c.1960G>A, XM_017012248.3:c.1930G>A, XM_017012248.2:c.1930G>A, XM_017012248.1:c.1930G>A, XM_017012247.3:c.1903G>A, XM_017012247.2:c.1903G>A, XM_017012247.1:c.1903G>A, XM_017012251.3:c.1930G>A, XM_017012251.2:c.1930G>A, XM_017012251.1:c.1930G>A, XM_011516255.2:c.1960G>A, XM_011516255.1:c.1960G>A, XM_011516258.2:c.1942G>A, XM_011516258.1:c.1942G>A, XM_024446777.2:c.1942G>A, XM_024446777.1:c.1942G>A, XM_024446778.2:c.1912G>A, XM_024446778.1:c.1912G>A, XM_024446779.2:c.1855G>A, XM_024446779.1:c.1855G>A, XM_024446780.2:c.1960G>A, XM_024446780.1:c.1960G>A, XM_047420417.1:c.1912G>A, XM_047420418.1:c.1873G>A, XM_047420419.1:c.1930G>A, XM_047420420.1:c.1903G>A, XM_047420422.1:c.1855G>A, XM_047420424.1:c.1885G>A, XM_047420421.1:c.1873G>A, XM_047420423.1:c.1873G>A, XM_047420425.1:c.1855G>A, NP_005001.3:p.Glu638Lys, NP_001032209.1:p.Glu654Lys, NP_001180511.1:p.Glu654Lys, NP_001180512.1:p.Glu635Lys, NP_001180513.1:p.Glu635Lys, NP_001358055.1:p.Glu635Lys, NP_001358092.1:p.Glu635Lys, NP_001358060.1:p.Glu654Lys, NP_001358085.1:p.Glu654Lys, NP_001358073.1:p.Glu654Lys, NP_001358098.1:p.Glu654Lys, NP_001358101.1:p.Glu635Lys, NP_001358075.1:p.Glu635Lys, NP_001358062.1:p.Glu638Lys, NP_001358097.1:p.Glu654Lys, NP_001358082.1:p.Glu654Lys, NP_001358057.1:p.Glu654Lys, NP_001358067.1:p.Glu654Lys, NP_001358094.1:p.Glu635Lys, NP_001358068.1:p.Glu635Lys, NP_001358087.1:p.Glu635Lys, NP_001358084.1:p.Glu635Lys, NP_001358048.1:p.Glu635Lys, NP_001358053.1:p.Glu635Lys, NP_001358074.1:p.Glu635Lys, NP_001358096.1:p.Glu635Lys, NP_001358091.1:p.Glu635Lys, NP_001358065.1:p.Glu638Lys, NP_001358061.1:p.Glu635Lys, NP_001358069.1:p.Glu635Lys, NP_001358100.1:p.Glu638Lys, NP_001358072.1:p.Glu539Lys, NP_001358078.1:p.Glu654Lys, NP_001358056.1:p.Glu653Lys, NP_001358059.1:p.Glu638Lys, NP_001358079.1:p.Glu644Lys, NP_001358093.1:p.Glu539Lys, NP_001358102.1:p.Glu654Lys, NP_001358086.1:p.Glu638Lys, NP_001358070.1:p.Glu635Lys, NP_001358090.1:p.Glu654Lys, NP_001358108.1:p.Glu548Lys, NP_001358089.1:p.Glu648Lys, NP_001358064.1:p.Glu635Lys, NP_001358088.1:p.Glu644Lys, NP_001358076.1:p.Glu539Lys, NP_001358103.1:p.Glu644Lys, NP_001358081.1:p.Glu638Lys, NP_001358058.1:p.Glu635Lys, NP_001358063.1:p.Glu637Lys, NP_001358071.1:p.Glu539Lys, NP_001358052.1:p.Glu654Lys, NP_001358110.1:p.Glu635Lys, NP_001358095.1:p.Glu635Lys, NP_001358051.1:p.Glu635Lys, NP_001358111.1:p.Glu619Lys, NP_001358080.1:p.Glu638Lys, NP_001358066.1:p.Glu335Lys, NP_001358054.1:p.Glu539Lys, NP_001358083.1:p.Glu635Lys, NP_001358099.1:p.Glu548Lys, NP_001358077.1:p.Glu548Lys, NP_001358106.1:p.Glu635Lys, NP_001358105.1:p.Glu638Lys, NP_001358107.1:p.Glu638Lys, NP_001358104.1:p.Glu638Lys, NP_001358109.1:p.Glu548Lys, XP_011514567.1:p.Glu654Lys, XP_011514555.1:p.Glu654Lys, XP_006716066.1:p.Glu654Lys, XP_011514559.1:p.Glu648Lys, XP_011514561.1:p.Glu644Lys, XP_016867725.1:p.Glu644Lys, XP_011514563.1:p.Glu638Lys, XP_011514564.1:p.Glu635Lys, XP_016867727.1:p.Glu635Lys, XP_016867728.1:p.Glu629Lys, XP_011514570.1:p.Glu558Lys, XP_011514569.1:p.Glu654Lys, XP_006716075.1:p.Glu654Lys, XP_011514571.1:p.Glu654Lys, XP_016867735.1:p.Glu644Lys, XP_006716077.1:p.Glu654Lys, XP_011514572.1:p.Glu654Lys, XP_016867737.1:p.Glu644Lys, XP_016867736.1:p.Glu635Lys, XP_016867740.1:p.Glu644Lys, XP_011514557.1:p.Glu654Lys, XP_011514560.1:p.Glu648Lys, XP_024302545.1:p.Glu648Lys, XP_024302546.1:p.Glu638Lys, XP_024302547.1:p.Glu619Lys, XP_024302548.1:p.Glu654Lys, XP_047276373.1:p.Glu638Lys, XP_047276374.1:p.Glu625Lys, XP_047276375.1:p.Glu644Lys, XP_047276376.1:p.Glu635Lys, XP_047276378.1:p.Glu619Lys, XP_047276380.1:p.Glu629Lys, XP_047276377.1:p.Glu625Lys, XP_047276379.1:p.Glu625Lys, XP_047276381.1:p.Glu619Lys

            6.

            rs1488316175 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:108180373 (GRCh38)
              7:107820817 (GRCh37)
              Canonical SPDI:
              NC_000007.14:108180372:T:C
              Gene:
              NRCAM (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000007.14:g.108180373T>C, NC_000007.13:g.107820817T>C, NG_029898.2:g.281345A>G, NM_005010.5:c.2653A>G, NM_005010.4:c.2653A>G, NM_001037132.4:c.2701A>G, NM_001037132.3:c.2701A>G, NM_001037132.2:c.2701A>G, NM_001193582.2:c.2701A>G, NM_001193582.1:c.2701A>G, NM_001193583.2:c.2644A>G, NM_001193583.1:c.2644A>G, NM_001193584.2:c.2644A>G, NM_001193584.1:c.2644A>G, NM_001371126.1:c.2644A>G, NM_001371163.1:c.2644A>G, NM_001371131.1:c.2701A>G, NR_163868.1:n.3169A>G, NM_001371156.1:c.2701A>G, NM_001371144.1:c.2701A>G, NM_001371169.1:c.2701A>G, NM_001371172.1:c.2644A>G, NM_001371146.1:c.2644A>G, NM_001371133.1:c.2653A>G, NR_163869.1:n.3169A>G, NM_001371168.1:c.2701A>G, NM_001371153.1:c.2701A>G, NM_001371128.1:c.2701A>G, NM_001371138.1:c.2701A>G, NM_001371165.1:c.2644A>G, NM_001371139.1:c.2644A>G, NM_001371158.1:c.2644A>G, NM_001371155.1:c.2644A>G, NM_001371119.1:c.2644A>G, NM_001371124.1:c.2644A>G, NM_001371145.1:c.2644A>G, NM_001371167.1:c.2644A>G, NM_001371162.1:c.2644A>G, NR_163871.1:n.3248A>G, NM_001371136.1:c.2653A>G, NM_001371132.1:c.2644A>G, NM_001371140.1:c.2644A>G, NM_001371171.1:c.2653A>G, NM_001371143.1:c.2356A>G, NM_001371149.1:c.2701A>G, NR_163867.1:n.3169A>G, NR_163870.1:n.3250A>G, NM_001371127.1:c.2698A>G, NM_001371130.1:c.2653A>G, NM_001371150.1:c.2671A>G, NM_001371164.1:c.2356A>G, NM_001371173.1:c.2701A>G, NM_001371157.1:c.2653A>G, NM_001371141.1:c.2644A>G, NM_001371161.1:c.2701A>G, NM_001371179.1:c.2383A>G, NM_001371160.1:c.2683A>G, NM_001371135.1:c.2644A>G, NM_001371159.1:c.2671A>G, NM_001371147.1:c.2356A>G, NM_001371174.1:c.2671A>G, NM_001371152.1:c.2653A>G, NM_001371129.1:c.2644A>G, NM_001371134.1:c.2650A>G, NM_001371142.1:c.2356A>G, NM_001371123.1:c.2701A>G, NM_001371181.1:c.2644A>G, NM_001371166.1:c.2644A>G, NM_001371122.1:c.2644A>G, NM_001371182.1:c.2596A>G, NM_001371151.1:c.2653A>G, NM_001371137.1:c.1744A>G, NM_001371125.1:c.2356A>G, NM_001371154.1:c.2644A>G, NM_001371170.1:c.2383A>G, NM_001371148.1:c.2383A>G, NM_001371177.1:c.2644A>G, NM_001371176.1:c.2653A>G, NM_001371178.1:c.2653A>G, NM_001371175.1:c.2653A>G, NM_001371180.1:c.2383A>G, XM_011516265.4:c.2701A>G, XM_011516265.3:c.2701A>G, XM_011516265.2:c.2701A>G, XM_011516265.1:c.2701A>G, XM_011516253.3:c.2701A>G, XM_011516253.2:c.2701A>G, XM_011516253.1:c.2701A>G, XM_006716003.3:c.2701A>G, XM_006716003.2:c.2701A>G, XM_006716003.1:c.2701A>G, XM_011516257.3:c.2683A>G, XM_011516257.2:c.2683A>G, XM_011516257.1:c.2683A>G, XM_011516259.3:c.2671A>G, XM_011516259.2:c.2671A>G, XM_011516259.1:c.2671A>G, XM_017012236.3:c.2671A>G, XM_017012236.2:c.2671A>G, XM_017012236.1:c.2671A>G, XM_011516261.3:c.2653A>G, XM_011516261.2:c.2653A>G, XM_011516261.1:c.2653A>G, XM_011516262.3:c.2644A>G, XM_011516262.2:c.2644A>G, XM_011516262.1:c.2644A>G, XM_017012238.3:c.2644A>G, XM_017012238.2:c.2644A>G, XM_017012238.1:c.2644A>G, XM_017012239.3:c.2626A>G, XM_017012239.2:c.2626A>G, XM_017012239.1:c.2626A>G, XM_011516268.3:c.2413A>G, XM_011516268.2:c.2413A>G, XM_011516268.1:c.2413A>G, XM_011516267.3:c.2701A>G, XM_011516267.2:c.2701A>G, XM_011516267.1:c.2701A>G, XM_006716012.3:c.2701A>G, XM_006716012.2:c.2701A>G, XM_006716012.1:c.2701A>G, XM_011516269.3:c.2701A>G, XM_011516269.2:c.2701A>G, XM_011516269.1:c.2701A>G, XM_017012246.3:c.2671A>G, XM_017012246.2:c.2671A>G, XM_017012246.1:c.2671A>G, XM_006716014.3:c.2701A>G, XM_006716014.2:c.2701A>G, XM_006716014.1:c.2701A>G, XM_011516270.3:c.2701A>G, XM_011516270.2:c.2701A>G, XM_011516270.1:c.2701A>G, XM_017012248.3:c.2671A>G, XM_017012248.2:c.2671A>G, XM_017012248.1:c.2671A>G, XM_017012247.3:c.2644A>G, XM_017012247.2:c.2644A>G, XM_017012247.1:c.2644A>G, XM_017012251.3:c.2671A>G, XM_017012251.2:c.2671A>G, XM_017012251.1:c.2671A>G, XM_011516255.2:c.2701A>G, XM_011516255.1:c.2701A>G, XM_011516258.2:c.2683A>G, XM_011516258.1:c.2683A>G, XM_024446777.2:c.2683A>G, XM_024446777.1:c.2683A>G, XM_024446778.2:c.2653A>G, XM_024446778.1:c.2653A>G, XM_024446779.2:c.2596A>G, XM_024446779.1:c.2596A>G, XM_024446780.2:c.2701A>G, XM_024446780.1:c.2701A>G, XM_047420417.1:c.2653A>G, XM_047420418.1:c.2614A>G, XM_047420419.1:c.2671A>G, XM_047420420.1:c.2644A>G, XM_047420422.1:c.2596A>G, XM_047420424.1:c.2626A>G, XM_047420421.1:c.2614A>G, XM_047420423.1:c.2614A>G, XM_047420425.1:c.2596A>G, NP_005001.3:p.Lys885Glu, NP_001032209.1:p.Lys901Glu, NP_001180511.1:p.Lys901Glu, NP_001180512.1:p.Lys882Glu, NP_001180513.1:p.Lys882Glu, NP_001358055.1:p.Lys882Glu, NP_001358092.1:p.Lys882Glu, NP_001358060.1:p.Lys901Glu, NP_001358085.1:p.Lys901Glu, NP_001358073.1:p.Lys901Glu, NP_001358098.1:p.Lys901Glu, NP_001358101.1:p.Lys882Glu, NP_001358075.1:p.Lys882Glu, NP_001358062.1:p.Lys885Glu, NP_001358097.1:p.Lys901Glu, NP_001358082.1:p.Lys901Glu, NP_001358057.1:p.Lys901Glu, NP_001358067.1:p.Lys901Glu, NP_001358094.1:p.Lys882Glu, NP_001358068.1:p.Lys882Glu, NP_001358087.1:p.Lys882Glu, NP_001358084.1:p.Lys882Glu, NP_001358048.1:p.Lys882Glu, NP_001358053.1:p.Lys882Glu, NP_001358074.1:p.Lys882Glu, NP_001358096.1:p.Lys882Glu, NP_001358091.1:p.Lys882Glu, NP_001358065.1:p.Lys885Glu, NP_001358061.1:p.Lys882Glu, NP_001358069.1:p.Lys882Glu, NP_001358100.1:p.Lys885Glu, NP_001358072.1:p.Lys786Glu, NP_001358078.1:p.Lys901Glu, NP_001358056.1:p.Lys900Glu, NP_001358059.1:p.Lys885Glu, NP_001358079.1:p.Lys891Glu, NP_001358093.1:p.Lys786Glu, NP_001358102.1:p.Lys901Glu, NP_001358086.1:p.Lys885Glu, NP_001358070.1:p.Lys882Glu, NP_001358090.1:p.Lys901Glu, NP_001358108.1:p.Lys795Glu, NP_001358089.1:p.Lys895Glu, NP_001358064.1:p.Lys882Glu, NP_001358088.1:p.Lys891Glu, NP_001358076.1:p.Lys786Glu, NP_001358103.1:p.Lys891Glu, NP_001358081.1:p.Lys885Glu, NP_001358058.1:p.Lys882Glu, NP_001358063.1:p.Lys884Glu, NP_001358071.1:p.Lys786Glu, NP_001358052.1:p.Lys901Glu, NP_001358110.1:p.Lys882Glu, NP_001358095.1:p.Lys882Glu, NP_001358051.1:p.Lys882Glu, NP_001358111.1:p.Lys866Glu, NP_001358080.1:p.Lys885Glu, NP_001358066.1:p.Lys582Glu, NP_001358054.1:p.Lys786Glu, NP_001358083.1:p.Lys882Glu, NP_001358099.1:p.Lys795Glu, NP_001358077.1:p.Lys795Glu, NP_001358106.1:p.Lys882Glu, NP_001358105.1:p.Lys885Glu, NP_001358107.1:p.Lys885Glu, NP_001358104.1:p.Lys885Glu, NP_001358109.1:p.Lys795Glu, XP_011514567.1:p.Lys901Glu, XP_011514555.1:p.Lys901Glu, XP_006716066.1:p.Lys901Glu, XP_011514559.1:p.Lys895Glu, XP_011514561.1:p.Lys891Glu, XP_016867725.1:p.Lys891Glu, XP_011514563.1:p.Lys885Glu, XP_011514564.1:p.Lys882Glu, XP_016867727.1:p.Lys882Glu, XP_016867728.1:p.Lys876Glu, XP_011514570.1:p.Lys805Glu, XP_011514569.1:p.Lys901Glu, XP_006716075.1:p.Lys901Glu, XP_011514571.1:p.Lys901Glu, XP_016867735.1:p.Lys891Glu, XP_006716077.1:p.Lys901Glu, XP_011514572.1:p.Lys901Glu, XP_016867737.1:p.Lys891Glu, XP_016867736.1:p.Lys882Glu, XP_016867740.1:p.Lys891Glu, XP_011514557.1:p.Lys901Glu, XP_011514560.1:p.Lys895Glu, XP_024302545.1:p.Lys895Glu, XP_024302546.1:p.Lys885Glu, XP_024302547.1:p.Lys866Glu, XP_024302548.1:p.Lys901Glu, XP_047276373.1:p.Lys885Glu, XP_047276374.1:p.Lys872Glu, XP_047276375.1:p.Lys891Glu, XP_047276376.1:p.Lys882Glu, XP_047276378.1:p.Lys866Glu, XP_047276380.1:p.Lys876Glu, XP_047276377.1:p.Lys872Glu, XP_047276379.1:p.Lys872Glu, XP_047276381.1:p.Lys866Glu

              7.

              rs1487445946 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:108181844 (GRCh38)
                7:107822288 (GRCh37)
                Canonical SPDI:
                NC_000007.14:108181843:C:T
                Gene:
                NRCAM (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                T=0.000012/3 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.108181844C>T, NC_000007.13:g.107822288C>T, NG_029898.2:g.279874G>A, NM_005010.5:c.2576G>A, NM_005010.4:c.2576G>A, NM_001037132.4:c.2624G>A, NM_001037132.3:c.2624G>A, NM_001037132.2:c.2624G>A, NM_001193582.2:c.2624G>A, NM_001193582.1:c.2624G>A, NM_001193583.2:c.2567G>A, NM_001193583.1:c.2567G>A, NM_001193584.2:c.2567G>A, NM_001193584.1:c.2567G>A, NM_001371126.1:c.2567G>A, NM_001371163.1:c.2567G>A, NM_001371131.1:c.2624G>A, NR_163868.1:n.3092G>A, NM_001371156.1:c.2624G>A, NM_001371144.1:c.2624G>A, NM_001371169.1:c.2624G>A, NM_001371172.1:c.2567G>A, NM_001371146.1:c.2567G>A, NM_001371133.1:c.2576G>A, NR_163869.1:n.3092G>A, NM_001371168.1:c.2624G>A, NM_001371153.1:c.2624G>A, NM_001371128.1:c.2624G>A, NM_001371138.1:c.2624G>A, NM_001371165.1:c.2567G>A, NM_001371139.1:c.2567G>A, NM_001371158.1:c.2567G>A, NM_001371155.1:c.2567G>A, NM_001371119.1:c.2567G>A, NM_001371124.1:c.2567G>A, NM_001371145.1:c.2567G>A, NM_001371167.1:c.2567G>A, NM_001371162.1:c.2567G>A, NR_163871.1:n.3171G>A, NM_001371136.1:c.2576G>A, NM_001371132.1:c.2567G>A, NM_001371140.1:c.2567G>A, NM_001371171.1:c.2576G>A, NM_001371143.1:c.2279G>A, NM_001371149.1:c.2624G>A, NR_163867.1:n.3092G>A, NR_163870.1:n.3173G>A, NM_001371127.1:c.2621G>A, NM_001371130.1:c.2576G>A, NM_001371150.1:c.2594G>A, NM_001371164.1:c.2279G>A, NM_001371173.1:c.2624G>A, NM_001371157.1:c.2576G>A, NM_001371141.1:c.2567G>A, NM_001371161.1:c.2624G>A, NM_001371179.1:c.2306G>A, NM_001371160.1:c.2606G>A, NM_001371135.1:c.2567G>A, NM_001371159.1:c.2594G>A, NM_001371147.1:c.2279G>A, NM_001371174.1:c.2594G>A, NM_001371152.1:c.2576G>A, NM_001371129.1:c.2567G>A, NM_001371134.1:c.2573G>A, NM_001371142.1:c.2279G>A, NM_001371123.1:c.2624G>A, NM_001371181.1:c.2567G>A, NM_001371166.1:c.2567G>A, NM_001371122.1:c.2567G>A, NM_001371182.1:c.2519G>A, NM_001371151.1:c.2576G>A, NM_001371137.1:c.1667G>A, NM_001371125.1:c.2279G>A, NM_001371154.1:c.2567G>A, NM_001371170.1:c.2306G>A, NM_001371148.1:c.2306G>A, NM_001371177.1:c.2567G>A, NM_001371176.1:c.2576G>A, NM_001371178.1:c.2576G>A, NM_001371175.1:c.2576G>A, NM_001371180.1:c.2306G>A, XM_011516265.4:c.2624G>A, XM_011516265.3:c.2624G>A, XM_011516265.2:c.2624G>A, XM_011516265.1:c.2624G>A, XM_011516253.3:c.2624G>A, XM_011516253.2:c.2624G>A, XM_011516253.1:c.2624G>A, XM_006716003.3:c.2624G>A, XM_006716003.2:c.2624G>A, XM_006716003.1:c.2624G>A, XM_011516257.3:c.2606G>A, XM_011516257.2:c.2606G>A, XM_011516257.1:c.2606G>A, XM_011516259.3:c.2594G>A, XM_011516259.2:c.2594G>A, XM_011516259.1:c.2594G>A, XM_017012236.3:c.2594G>A, XM_017012236.2:c.2594G>A, XM_017012236.1:c.2594G>A, XM_011516261.3:c.2576G>A, XM_011516261.2:c.2576G>A, XM_011516261.1:c.2576G>A, XM_011516262.3:c.2567G>A, XM_011516262.2:c.2567G>A, XM_011516262.1:c.2567G>A, XM_017012238.3:c.2567G>A, XM_017012238.2:c.2567G>A, XM_017012238.1:c.2567G>A, XM_017012239.3:c.2549G>A, XM_017012239.2:c.2549G>A, XM_017012239.1:c.2549G>A, XM_011516268.3:c.2336G>A, XM_011516268.2:c.2336G>A, XM_011516268.1:c.2336G>A, XM_011516267.3:c.2624G>A, XM_011516267.2:c.2624G>A, XM_011516267.1:c.2624G>A, XM_006716012.3:c.2624G>A, XM_006716012.2:c.2624G>A, XM_006716012.1:c.2624G>A, XM_011516269.3:c.2624G>A, XM_011516269.2:c.2624G>A, XM_011516269.1:c.2624G>A, XM_017012246.3:c.2594G>A, XM_017012246.2:c.2594G>A, XM_017012246.1:c.2594G>A, XM_006716014.3:c.2624G>A, XM_006716014.2:c.2624G>A, XM_006716014.1:c.2624G>A, XM_011516270.3:c.2624G>A, XM_011516270.2:c.2624G>A, XM_011516270.1:c.2624G>A, XM_017012248.3:c.2594G>A, XM_017012248.2:c.2594G>A, XM_017012248.1:c.2594G>A, XM_017012247.3:c.2567G>A, XM_017012247.2:c.2567G>A, XM_017012247.1:c.2567G>A, XM_017012251.3:c.2594G>A, XM_017012251.2:c.2594G>A, XM_017012251.1:c.2594G>A, XM_011516255.2:c.2624G>A, XM_011516255.1:c.2624G>A, XM_011516258.2:c.2606G>A, XM_011516258.1:c.2606G>A, XM_024446777.2:c.2606G>A, XM_024446777.1:c.2606G>A, XM_024446778.2:c.2576G>A, XM_024446778.1:c.2576G>A, XM_024446779.2:c.2519G>A, XM_024446779.1:c.2519G>A, XM_024446780.2:c.2624G>A, XM_024446780.1:c.2624G>A, XM_047420417.1:c.2576G>A, XM_047420418.1:c.2537G>A, XM_047420419.1:c.2594G>A, XM_047420420.1:c.2567G>A, XM_047420422.1:c.2519G>A, XM_047420424.1:c.2549G>A, XM_047420421.1:c.2537G>A, XM_047420423.1:c.2537G>A, XM_047420425.1:c.2519G>A, NP_005001.3:p.Arg859Gln, NP_001032209.1:p.Arg875Gln, NP_001180511.1:p.Arg875Gln, NP_001180512.1:p.Arg856Gln, NP_001180513.1:p.Arg856Gln, NP_001358055.1:p.Arg856Gln, NP_001358092.1:p.Arg856Gln, NP_001358060.1:p.Arg875Gln, NP_001358085.1:p.Arg875Gln, NP_001358073.1:p.Arg875Gln, NP_001358098.1:p.Arg875Gln, NP_001358101.1:p.Arg856Gln, NP_001358075.1:p.Arg856Gln, NP_001358062.1:p.Arg859Gln, NP_001358097.1:p.Arg875Gln, NP_001358082.1:p.Arg875Gln, NP_001358057.1:p.Arg875Gln, NP_001358067.1:p.Arg875Gln, NP_001358094.1:p.Arg856Gln, NP_001358068.1:p.Arg856Gln, NP_001358087.1:p.Arg856Gln, NP_001358084.1:p.Arg856Gln, NP_001358048.1:p.Arg856Gln, NP_001358053.1:p.Arg856Gln, NP_001358074.1:p.Arg856Gln, NP_001358096.1:p.Arg856Gln, NP_001358091.1:p.Arg856Gln, NP_001358065.1:p.Arg859Gln, NP_001358061.1:p.Arg856Gln, NP_001358069.1:p.Arg856Gln, NP_001358100.1:p.Arg859Gln, NP_001358072.1:p.Arg760Gln, NP_001358078.1:p.Arg875Gln, NP_001358056.1:p.Arg874Gln, NP_001358059.1:p.Arg859Gln, NP_001358079.1:p.Arg865Gln, NP_001358093.1:p.Arg760Gln, NP_001358102.1:p.Arg875Gln, NP_001358086.1:p.Arg859Gln, NP_001358070.1:p.Arg856Gln, NP_001358090.1:p.Arg875Gln, NP_001358108.1:p.Arg769Gln, NP_001358089.1:p.Arg869Gln, NP_001358064.1:p.Arg856Gln, NP_001358088.1:p.Arg865Gln, NP_001358076.1:p.Arg760Gln, NP_001358103.1:p.Arg865Gln, NP_001358081.1:p.Arg859Gln, NP_001358058.1:p.Arg856Gln, NP_001358063.1:p.Arg858Gln, NP_001358071.1:p.Arg760Gln, NP_001358052.1:p.Arg875Gln, NP_001358110.1:p.Arg856Gln, NP_001358095.1:p.Arg856Gln, NP_001358051.1:p.Arg856Gln, NP_001358111.1:p.Arg840Gln, NP_001358080.1:p.Arg859Gln, NP_001358066.1:p.Arg556Gln, NP_001358054.1:p.Arg760Gln, NP_001358083.1:p.Arg856Gln, NP_001358099.1:p.Arg769Gln, NP_001358077.1:p.Arg769Gln, NP_001358106.1:p.Arg856Gln, NP_001358105.1:p.Arg859Gln, NP_001358107.1:p.Arg859Gln, NP_001358104.1:p.Arg859Gln, NP_001358109.1:p.Arg769Gln, XP_011514567.1:p.Arg875Gln, XP_011514555.1:p.Arg875Gln, XP_006716066.1:p.Arg875Gln, XP_011514559.1:p.Arg869Gln, XP_011514561.1:p.Arg865Gln, XP_016867725.1:p.Arg865Gln, XP_011514563.1:p.Arg859Gln, XP_011514564.1:p.Arg856Gln, XP_016867727.1:p.Arg856Gln, XP_016867728.1:p.Arg850Gln, XP_011514570.1:p.Arg779Gln, XP_011514569.1:p.Arg875Gln, XP_006716075.1:p.Arg875Gln, XP_011514571.1:p.Arg875Gln, XP_016867735.1:p.Arg865Gln, XP_006716077.1:p.Arg875Gln, XP_011514572.1:p.Arg875Gln, XP_016867737.1:p.Arg865Gln, XP_016867736.1:p.Arg856Gln, XP_016867740.1:p.Arg865Gln, XP_011514557.1:p.Arg875Gln, XP_011514560.1:p.Arg869Gln, XP_024302545.1:p.Arg869Gln, XP_024302546.1:p.Arg859Gln, XP_024302547.1:p.Arg840Gln, XP_024302548.1:p.Arg875Gln, XP_047276373.1:p.Arg859Gln, XP_047276374.1:p.Arg846Gln, XP_047276375.1:p.Arg865Gln, XP_047276376.1:p.Arg856Gln, XP_047276378.1:p.Arg840Gln, XP_047276380.1:p.Arg850Gln, XP_047276377.1:p.Arg846Gln, XP_047276379.1:p.Arg846Gln, XP_047276381.1:p.Arg840Gln

                8.

                rs1486544648 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:108209435 (GRCh38)
                  7:107849879 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:108209434:G:T
                  Gene:
                  NRCAM (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000007.14:g.108209435G>T, NC_000007.13:g.107849879G>T, NG_029898.2:g.252283C>A, NM_005010.5:c.1043C>A, NM_005010.4:c.1043C>A, NM_001037132.4:c.1061C>A, NM_001037132.3:c.1061C>A, NM_001037132.2:c.1061C>A, NM_001193582.2:c.1061C>A, NM_001193582.1:c.1061C>A, NM_001193583.2:c.1004C>A, NM_001193583.1:c.1004C>A, NM_001193584.2:c.1004C>A, NM_001193584.1:c.1004C>A, NM_001371126.1:c.1004C>A, NM_001371163.1:c.1004C>A, NM_001371131.1:c.1061C>A, NR_163868.1:n.1529C>A, NM_001371156.1:c.1061C>A, NM_001371144.1:c.1061C>A, NM_001371169.1:c.1061C>A, NM_001371172.1:c.1004C>A, NM_001371146.1:c.1004C>A, NM_001371133.1:c.1043C>A, NR_163869.1:n.1529C>A, NM_001371168.1:c.1061C>A, NM_001371153.1:c.1061C>A, NM_001371128.1:c.1061C>A, NM_001371138.1:c.1061C>A, NM_001371165.1:c.1004C>A, NM_001371139.1:c.1004C>A, NM_001371158.1:c.1004C>A, NM_001371155.1:c.1004C>A, NM_001371119.1:c.1004C>A, NM_001371124.1:c.1004C>A, NM_001371145.1:c.1004C>A, NM_001371167.1:c.1004C>A, NM_001371162.1:c.1004C>A, NR_163871.1:n.1638C>A, NM_001371136.1:c.1043C>A, NM_001371132.1:c.1004C>A, NM_001371140.1:c.1004C>A, NM_001371171.1:c.1043C>A, NM_001371143.1:c.716C>A, NM_001371149.1:c.1061C>A, NR_163867.1:n.1529C>A, NR_163870.1:n.1568C>A, NM_001371127.1:c.1058C>A, NM_001371130.1:c.1043C>A, NM_001371150.1:c.1061C>A, NM_001371164.1:c.716C>A, NM_001371173.1:c.1061C>A, NM_001371157.1:c.1043C>A, NM_001371141.1:c.1004C>A, NM_001371161.1:c.1061C>A, NM_001371179.1:c.773C>A, NM_001371160.1:c.1043C>A, NM_001371135.1:c.1004C>A, NM_001371159.1:c.1061C>A, NM_001371147.1:c.716C>A, NM_001371174.1:c.1061C>A, NM_001371152.1:c.1043C>A, NM_001371129.1:c.1004C>A, NM_001371134.1:c.1040C>A, NM_001371142.1:c.716C>A, NM_001371123.1:c.1061C>A, NM_001371181.1:c.1004C>A, NM_001371166.1:c.1004C>A, NM_001371122.1:c.1004C>A, NM_001371182.1:c.986C>A, NM_001371151.1:c.1043C>A, NM_001371137.1:c.134C>A, NM_001371125.1:c.716C>A, NM_001371154.1:c.1004C>A, NM_001371170.1:c.773C>A, NM_001371148.1:c.773C>A, NM_001371177.1:c.1004C>A, NM_001371176.1:c.1043C>A, NM_001371178.1:c.1043C>A, NM_001371175.1:c.1043C>A, NM_001371180.1:c.773C>A, XM_011516265.4:c.1061C>A, XM_011516265.3:c.1061C>A, XM_011516265.2:c.1061C>A, XM_011516265.1:c.1061C>A, XM_011516253.3:c.1061C>A, XM_011516253.2:c.1061C>A, XM_011516253.1:c.1061C>A, XM_006716003.3:c.1061C>A, XM_006716003.2:c.1061C>A, XM_006716003.1:c.1061C>A, XM_011516257.3:c.1043C>A, XM_011516257.2:c.1043C>A, XM_011516257.1:c.1043C>A, XM_011516259.3:c.1061C>A, XM_011516259.2:c.1061C>A, XM_011516259.1:c.1061C>A, XM_017012236.3:c.1061C>A, XM_017012236.2:c.1061C>A, XM_017012236.1:c.1061C>A, XM_011516261.3:c.1043C>A, XM_011516261.2:c.1043C>A, XM_011516261.1:c.1043C>A, XM_011516262.3:c.1004C>A, XM_011516262.2:c.1004C>A, XM_011516262.1:c.1004C>A, XM_017012238.3:c.1004C>A, XM_017012238.2:c.1004C>A, XM_017012238.1:c.1004C>A, XM_017012239.3:c.986C>A, XM_017012239.2:c.986C>A, XM_017012239.1:c.986C>A, XM_011516268.3:c.773C>A, XM_011516268.2:c.773C>A, XM_011516268.1:c.773C>A, XM_011516267.3:c.1061C>A, XM_011516267.2:c.1061C>A, XM_011516267.1:c.1061C>A, XM_006716012.3:c.1061C>A, XM_006716012.2:c.1061C>A, XM_006716012.1:c.1061C>A, XM_011516269.3:c.1061C>A, XM_011516269.2:c.1061C>A, XM_011516269.1:c.1061C>A, XM_017012246.3:c.1061C>A, XM_017012246.2:c.1061C>A, XM_017012246.1:c.1061C>A, XM_006716014.3:c.1061C>A, XM_006716014.2:c.1061C>A, XM_006716014.1:c.1061C>A, XM_011516270.3:c.1061C>A, XM_011516270.2:c.1061C>A, XM_011516270.1:c.1061C>A, XM_017012248.3:c.1061C>A, XM_017012248.2:c.1061C>A, XM_017012248.1:c.1061C>A, XM_017012247.3:c.1004C>A, XM_017012247.2:c.1004C>A, XM_017012247.1:c.1004C>A, XM_017012251.3:c.1061C>A, XM_017012251.2:c.1061C>A, XM_017012251.1:c.1061C>A, XM_011516255.2:c.1061C>A, XM_011516255.1:c.1061C>A, XM_011516258.2:c.1043C>A, XM_011516258.1:c.1043C>A, XM_024446777.2:c.1043C>A, XM_024446777.1:c.1043C>A, XM_024446778.2:c.1043C>A, XM_024446778.1:c.1043C>A, XM_024446779.2:c.986C>A, XM_024446779.1:c.986C>A, XM_024446780.2:c.1061C>A, XM_024446780.1:c.1061C>A, XM_047420417.1:c.1043C>A, XM_047420418.1:c.1004C>A, XM_047420419.1:c.1061C>A, XM_047420420.1:c.1004C>A, XM_047420422.1:c.986C>A, XM_047420424.1:c.986C>A, XM_047420421.1:c.1004C>A, XM_047420423.1:c.1004C>A, XM_047420425.1:c.986C>A, NP_005001.3:p.Ser348Tyr, NP_001032209.1:p.Ser354Tyr, NP_001180511.1:p.Ser354Tyr, NP_001180512.1:p.Ser335Tyr, NP_001180513.1:p.Ser335Tyr, NP_001358055.1:p.Ser335Tyr, NP_001358092.1:p.Ser335Tyr, NP_001358060.1:p.Ser354Tyr, NP_001358085.1:p.Ser354Tyr, NP_001358073.1:p.Ser354Tyr, NP_001358098.1:p.Ser354Tyr, NP_001358101.1:p.Ser335Tyr, NP_001358075.1:p.Ser335Tyr, NP_001358062.1:p.Ser348Tyr, NP_001358097.1:p.Ser354Tyr, NP_001358082.1:p.Ser354Tyr, NP_001358057.1:p.Ser354Tyr, NP_001358067.1:p.Ser354Tyr, NP_001358094.1:p.Ser335Tyr, NP_001358068.1:p.Ser335Tyr, NP_001358087.1:p.Ser335Tyr, NP_001358084.1:p.Ser335Tyr, NP_001358048.1:p.Ser335Tyr, NP_001358053.1:p.Ser335Tyr, NP_001358074.1:p.Ser335Tyr, NP_001358096.1:p.Ser335Tyr, NP_001358091.1:p.Ser335Tyr, NP_001358065.1:p.Ser348Tyr, NP_001358061.1:p.Ser335Tyr, NP_001358069.1:p.Ser335Tyr, NP_001358100.1:p.Ser348Tyr, NP_001358072.1:p.Ser239Tyr, NP_001358078.1:p.Ser354Tyr, NP_001358056.1:p.Ser353Tyr, NP_001358059.1:p.Ser348Tyr, NP_001358079.1:p.Ser354Tyr, NP_001358093.1:p.Ser239Tyr, NP_001358102.1:p.Ser354Tyr, NP_001358086.1:p.Ser348Tyr, NP_001358070.1:p.Ser335Tyr, NP_001358090.1:p.Ser354Tyr, NP_001358108.1:p.Ser258Tyr, NP_001358089.1:p.Ser348Tyr, NP_001358064.1:p.Ser335Tyr, NP_001358088.1:p.Ser354Tyr, NP_001358076.1:p.Ser239Tyr, NP_001358103.1:p.Ser354Tyr, NP_001358081.1:p.Ser348Tyr, NP_001358058.1:p.Ser335Tyr, NP_001358063.1:p.Ser347Tyr, NP_001358071.1:p.Ser239Tyr, NP_001358052.1:p.Ser354Tyr, NP_001358110.1:p.Ser335Tyr, NP_001358095.1:p.Ser335Tyr, NP_001358051.1:p.Ser335Tyr, NP_001358111.1:p.Ser329Tyr, NP_001358080.1:p.Ser348Tyr, NP_001358066.1:p.Ser45Tyr, NP_001358054.1:p.Ser239Tyr, NP_001358083.1:p.Ser335Tyr, NP_001358099.1:p.Ser258Tyr, NP_001358077.1:p.Ser258Tyr, NP_001358106.1:p.Ser335Tyr, NP_001358105.1:p.Ser348Tyr, NP_001358107.1:p.Ser348Tyr, NP_001358104.1:p.Ser348Tyr, NP_001358109.1:p.Ser258Tyr, XP_011514567.1:p.Ser354Tyr, XP_011514555.1:p.Ser354Tyr, XP_006716066.1:p.Ser354Tyr, XP_011514559.1:p.Ser348Tyr, XP_011514561.1:p.Ser354Tyr, XP_016867725.1:p.Ser354Tyr, XP_011514563.1:p.Ser348Tyr, XP_011514564.1:p.Ser335Tyr, XP_016867727.1:p.Ser335Tyr, XP_016867728.1:p.Ser329Tyr, XP_011514570.1:p.Ser258Tyr, XP_011514569.1:p.Ser354Tyr, XP_006716075.1:p.Ser354Tyr, XP_011514571.1:p.Ser354Tyr, XP_016867735.1:p.Ser354Tyr, XP_006716077.1:p.Ser354Tyr, XP_011514572.1:p.Ser354Tyr, XP_016867737.1:p.Ser354Tyr, XP_016867736.1:p.Ser335Tyr, XP_016867740.1:p.Ser354Tyr, XP_011514557.1:p.Ser354Tyr, XP_011514560.1:p.Ser348Tyr, XP_024302545.1:p.Ser348Tyr, XP_024302546.1:p.Ser348Tyr, XP_024302547.1:p.Ser329Tyr, XP_024302548.1:p.Ser354Tyr, XP_047276373.1:p.Ser348Tyr, XP_047276374.1:p.Ser335Tyr, XP_047276375.1:p.Ser354Tyr, XP_047276376.1:p.Ser335Tyr, XP_047276378.1:p.Ser329Tyr, XP_047276380.1:p.Ser329Tyr, XP_047276377.1:p.Ser335Tyr, XP_047276379.1:p.Ser335Tyr, XP_047276381.1:p.Ser329Tyr

                  9.

                  rs1486408040 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    7:108209536 (GRCh38)
                    7:107849980 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:108209535:G:C
                    Gene:
                    NRCAM (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000007.14:g.108209536G>C, NC_000007.13:g.107849980G>C, NG_029898.2:g.252182C>G, NM_005010.5:c.942C>G, NM_005010.4:c.942C>G, NM_001037132.4:c.960C>G, NM_001037132.3:c.960C>G, NM_001037132.2:c.960C>G, NM_001193582.2:c.960C>G, NM_001193582.1:c.960C>G, NM_001193583.2:c.903C>G, NM_001193583.1:c.903C>G, NM_001193584.2:c.903C>G, NM_001193584.1:c.903C>G, NM_001371126.1:c.903C>G, NM_001371163.1:c.903C>G, NM_001371131.1:c.960C>G, NR_163868.1:n.1428C>G, NM_001371156.1:c.960C>G, NM_001371144.1:c.960C>G, NM_001371169.1:c.960C>G, NM_001371172.1:c.903C>G, NM_001371146.1:c.903C>G, NM_001371133.1:c.942C>G, NR_163869.1:n.1428C>G, NM_001371168.1:c.960C>G, NM_001371153.1:c.960C>G, NM_001371128.1:c.960C>G, NM_001371138.1:c.960C>G, NM_001371165.1:c.903C>G, NM_001371139.1:c.903C>G, NM_001371158.1:c.903C>G, NM_001371155.1:c.903C>G, NM_001371119.1:c.903C>G, NM_001371124.1:c.903C>G, NM_001371145.1:c.903C>G, NM_001371167.1:c.903C>G, NM_001371162.1:c.903C>G, NR_163871.1:n.1537C>G, NM_001371136.1:c.942C>G, NM_001371132.1:c.903C>G, NM_001371140.1:c.903C>G, NM_001371171.1:c.942C>G, NM_001371143.1:c.615C>G, NM_001371149.1:c.960C>G, NR_163867.1:n.1428C>G, NR_163870.1:n.1467C>G, NM_001371127.1:c.957C>G, NM_001371130.1:c.942C>G, NM_001371150.1:c.960C>G, NM_001371164.1:c.615C>G, NM_001371173.1:c.960C>G, NM_001371157.1:c.942C>G, NM_001371141.1:c.903C>G, NM_001371161.1:c.960C>G, NM_001371179.1:c.672C>G, NM_001371160.1:c.942C>G, NM_001371135.1:c.903C>G, NM_001371159.1:c.960C>G, NM_001371147.1:c.615C>G, NM_001371174.1:c.960C>G, NM_001371152.1:c.942C>G, NM_001371129.1:c.903C>G, NM_001371134.1:c.939C>G, NM_001371142.1:c.615C>G, NM_001371123.1:c.960C>G, NM_001371181.1:c.903C>G, NM_001371166.1:c.903C>G, NM_001371122.1:c.903C>G, NM_001371182.1:c.885C>G, NM_001371151.1:c.942C>G, NM_001371137.1:c.33C>G, NM_001371125.1:c.615C>G, NM_001371154.1:c.903C>G, NM_001371170.1:c.672C>G, NM_001371148.1:c.672C>G, NM_001371177.1:c.903C>G, NM_001371176.1:c.942C>G, NM_001371178.1:c.942C>G, NM_001371175.1:c.942C>G, NM_001371180.1:c.672C>G, XM_011516265.4:c.960C>G, XM_011516265.3:c.960C>G, XM_011516265.2:c.960C>G, XM_011516265.1:c.960C>G, XM_011516253.3:c.960C>G, XM_011516253.2:c.960C>G, XM_011516253.1:c.960C>G, XM_006716003.3:c.960C>G, XM_006716003.2:c.960C>G, XM_006716003.1:c.960C>G, XM_011516257.3:c.942C>G, XM_011516257.2:c.942C>G, XM_011516257.1:c.942C>G, XM_011516259.3:c.960C>G, XM_011516259.2:c.960C>G, XM_011516259.1:c.960C>G, XM_017012236.3:c.960C>G, XM_017012236.2:c.960C>G, XM_017012236.1:c.960C>G, XM_011516261.3:c.942C>G, XM_011516261.2:c.942C>G, XM_011516261.1:c.942C>G, XM_011516262.3:c.903C>G, XM_011516262.2:c.903C>G, XM_011516262.1:c.903C>G, XM_017012238.3:c.903C>G, XM_017012238.2:c.903C>G, XM_017012238.1:c.903C>G, XM_017012239.3:c.885C>G, XM_017012239.2:c.885C>G, XM_017012239.1:c.885C>G, XM_011516268.3:c.672C>G, XM_011516268.2:c.672C>G, XM_011516268.1:c.672C>G, XM_011516267.3:c.960C>G, XM_011516267.2:c.960C>G, XM_011516267.1:c.960C>G, XM_006716012.3:c.960C>G, XM_006716012.2:c.960C>G, XM_006716012.1:c.960C>G, XM_011516269.3:c.960C>G, XM_011516269.2:c.960C>G, XM_011516269.1:c.960C>G, XM_017012246.3:c.960C>G, XM_017012246.2:c.960C>G, XM_017012246.1:c.960C>G, XM_006716014.3:c.960C>G, XM_006716014.2:c.960C>G, XM_006716014.1:c.960C>G, XM_011516270.3:c.960C>G, XM_011516270.2:c.960C>G, XM_011516270.1:c.960C>G, XM_017012248.3:c.960C>G, XM_017012248.2:c.960C>G, XM_017012248.1:c.960C>G, XM_017012247.3:c.903C>G, XM_017012247.2:c.903C>G, XM_017012247.1:c.903C>G, XM_017012251.3:c.960C>G, XM_017012251.2:c.960C>G, XM_017012251.1:c.960C>G, XM_011516255.2:c.960C>G, XM_011516255.1:c.960C>G, XM_011516258.2:c.942C>G, XM_011516258.1:c.942C>G, XM_024446777.2:c.942C>G, XM_024446777.1:c.942C>G, XM_024446778.2:c.942C>G, XM_024446778.1:c.942C>G, XM_024446779.2:c.885C>G, XM_024446779.1:c.885C>G, XM_024446780.2:c.960C>G, XM_024446780.1:c.960C>G, XM_047420417.1:c.942C>G, XM_047420418.1:c.903C>G, XM_047420419.1:c.960C>G, XM_047420420.1:c.903C>G, XM_047420422.1:c.885C>G, XM_047420424.1:c.885C>G, XM_047420421.1:c.903C>G, XM_047420423.1:c.903C>G, XM_047420425.1:c.885C>G, NP_005001.3:p.Asn314Lys, NP_001032209.1:p.Asn320Lys, NP_001180511.1:p.Asn320Lys, NP_001180512.1:p.Asn301Lys, NP_001180513.1:p.Asn301Lys, NP_001358055.1:p.Asn301Lys, NP_001358092.1:p.Asn301Lys, NP_001358060.1:p.Asn320Lys, NP_001358085.1:p.Asn320Lys, NP_001358073.1:p.Asn320Lys, NP_001358098.1:p.Asn320Lys, NP_001358101.1:p.Asn301Lys, NP_001358075.1:p.Asn301Lys, NP_001358062.1:p.Asn314Lys, NP_001358097.1:p.Asn320Lys, NP_001358082.1:p.Asn320Lys, NP_001358057.1:p.Asn320Lys, NP_001358067.1:p.Asn320Lys, NP_001358094.1:p.Asn301Lys, NP_001358068.1:p.Asn301Lys, NP_001358087.1:p.Asn301Lys, NP_001358084.1:p.Asn301Lys, NP_001358048.1:p.Asn301Lys, NP_001358053.1:p.Asn301Lys, NP_001358074.1:p.Asn301Lys, NP_001358096.1:p.Asn301Lys, NP_001358091.1:p.Asn301Lys, NP_001358065.1:p.Asn314Lys, NP_001358061.1:p.Asn301Lys, NP_001358069.1:p.Asn301Lys, NP_001358100.1:p.Asn314Lys, NP_001358072.1:p.Asn205Lys, NP_001358078.1:p.Asn320Lys, NP_001358056.1:p.Asn319Lys, NP_001358059.1:p.Asn314Lys, NP_001358079.1:p.Asn320Lys, NP_001358093.1:p.Asn205Lys, NP_001358102.1:p.Asn320Lys, NP_001358086.1:p.Asn314Lys, NP_001358070.1:p.Asn301Lys, NP_001358090.1:p.Asn320Lys, NP_001358108.1:p.Asn224Lys, NP_001358089.1:p.Asn314Lys, NP_001358064.1:p.Asn301Lys, NP_001358088.1:p.Asn320Lys, NP_001358076.1:p.Asn205Lys, NP_001358103.1:p.Asn320Lys, NP_001358081.1:p.Asn314Lys, NP_001358058.1:p.Asn301Lys, NP_001358063.1:p.Asn313Lys, NP_001358071.1:p.Asn205Lys, NP_001358052.1:p.Asn320Lys, NP_001358110.1:p.Asn301Lys, NP_001358095.1:p.Asn301Lys, NP_001358051.1:p.Asn301Lys, NP_001358111.1:p.Asn295Lys, NP_001358080.1:p.Asn314Lys, NP_001358066.1:p.Asn11Lys, NP_001358054.1:p.Asn205Lys, NP_001358083.1:p.Asn301Lys, NP_001358099.1:p.Asn224Lys, NP_001358077.1:p.Asn224Lys, NP_001358106.1:p.Asn301Lys, NP_001358105.1:p.Asn314Lys, NP_001358107.1:p.Asn314Lys, NP_001358104.1:p.Asn314Lys, NP_001358109.1:p.Asn224Lys, XP_011514567.1:p.Asn320Lys, XP_011514555.1:p.Asn320Lys, XP_006716066.1:p.Asn320Lys, XP_011514559.1:p.Asn314Lys, XP_011514561.1:p.Asn320Lys, XP_016867725.1:p.Asn320Lys, XP_011514563.1:p.Asn314Lys, XP_011514564.1:p.Asn301Lys, XP_016867727.1:p.Asn301Lys, XP_016867728.1:p.Asn295Lys, XP_011514570.1:p.Asn224Lys, XP_011514569.1:p.Asn320Lys, XP_006716075.1:p.Asn320Lys, XP_011514571.1:p.Asn320Lys, XP_016867735.1:p.Asn320Lys, XP_006716077.1:p.Asn320Lys, XP_011514572.1:p.Asn320Lys, XP_016867737.1:p.Asn320Lys, XP_016867736.1:p.Asn301Lys, XP_016867740.1:p.Asn320Lys, XP_011514557.1:p.Asn320Lys, XP_011514560.1:p.Asn314Lys, XP_024302545.1:p.Asn314Lys, XP_024302546.1:p.Asn314Lys, XP_024302547.1:p.Asn295Lys, XP_024302548.1:p.Asn320Lys, XP_047276373.1:p.Asn314Lys, XP_047276374.1:p.Asn301Lys, XP_047276375.1:p.Asn320Lys, XP_047276376.1:p.Asn301Lys, XP_047276378.1:p.Asn295Lys, XP_047276380.1:p.Asn295Lys, XP_047276377.1:p.Asn301Lys, XP_047276379.1:p.Asn301Lys, XP_047276381.1:p.Asn295Lys

                    10.

                    rs1483465263 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:108150110 (GRCh38)
                      7:107790555 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:108150109:G:A
                      Gene:
                      NRCAM (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000007.14:g.108150110G>A, NC_000007.13:g.107790555G>A, NG_029898.2:g.311608C>T, NM_005010.5:c.3352C>T, NM_005010.4:c.3352C>T, NM_001037132.4:c.3715C>T, NM_001037132.3:c.3715C>T, NM_001037132.2:c.3715C>T, NM_001193582.2:c.3436C>T, NM_001193582.1:c.3436C>T, NM_001193583.2:c.3379C>T, NM_001193583.1:c.3379C>T, NM_001193584.2:c.3343C>T, NM_001193584.1:c.3343C>T, NM_001371126.1:c.3658C>T, NM_001371163.1:c.3379C>T, NM_001371131.1:c.3715C>T, NR_163868.1:n.4254C>T, NM_001371156.1:c.3724C>T, NM_001371144.1:c.3436C>T, NM_001371169.1:c.3679C>T, NM_001371172.1:c.3658C>T, NM_001371146.1:c.3622C>T, NM_001371133.1:c.3352C>T, NR_163869.1:n.4119C>T, NM_001371168.1:c.3436C>T, NM_001371153.1:c.3400C>T, NM_001371128.1:c.3436C>T, NM_001371138.1:c.3553C>T, NM_001371165.1:c.3379C>T, NM_001371139.1:c.3379C>T, NM_001371158.1:c.3532C>T, NM_001371155.1:c.3379C>T, NM_001371119.1:c.3667C>T, NM_001371124.1:c.3658C>T, NM_001371145.1:c.3505C>T, NM_001371167.1:c.3379C>T, NM_001371162.1:c.3343C>T, NR_163871.1:n.4009C>T, NM_001371136.1:c.3478C>T, NM_001371132.1:c.3355C>T, NM_001371140.1:c.3469C>T, NM_001371171.1:c.3352C>T, NM_001371143.1:c.3370C>T, NM_001371149.1:c.3445C>T, NR_163867.1:n.3966C>T, NR_163870.1:n.3958C>T, NM_001371127.1:c.3433C>T, NM_001371130.1:c.3361C>T, NM_001371150.1:c.*63C>T, NM_001371164.1:c.3370C>T, NM_001371173.1:c.3412C>T, NM_001371157.1:c.*63C>T, NM_001371141.1:c.3352C>T, NM_001371161.1:c.3400C>T, NM_001371179.1:c.3082C>T, NM_001371160.1:c.3394C>T, NM_001371135.1:c.3388C>T, NM_001371159.1:c.3379C>T, NM_001371147.1:c.3091C>T, NM_001371174.1:c.3370C>T, NM_001371152.1:c.3361C>T, NM_001371129.1:c.3355C>T, NM_001371134.1:c.3349C>T, NM_001371142.1:c.3064C>T, NM_001371123.1:c.3445C>T, NM_001371181.1:c.3379C>T, NM_001371166.1:c.3166C>T, NM_001371122.1:c.3379C>T, NM_001371182.1:c.3304C>T, NM_001371151.1:c.3352C>T, NM_001371137.1:c.2443C>T, NM_001371125.1:c.3091C>T, NM_001371154.1:c.3166C>T, NM_001371170.1:c.3094C>T, NM_001371148.1:c.3082C>T, NM_001371177.1:c.3379C>T, NM_001371176.1:c.3361C>T, NM_001371178.1:c.3352C>T, NM_001371175.1:c.3052C>T, NM_001371180.1:c.3082C>T, XM_011516253.3:c.3736C>T, XM_011516253.2:c.3736C>T, XM_011516253.1:c.3736C>T, XM_006716003.3:c.3727C>T, XM_006716003.2:c.3727C>T, XM_006716003.1:c.3727C>T, XM_011516257.3:c.3718C>T, XM_011516257.2:c.3718C>T, XM_011516257.1:c.3718C>T, XM_011516259.3:c.3706C>T, XM_011516259.2:c.3706C>T, XM_011516259.1:c.3706C>T, XM_017012236.3:c.3697C>T, XM_017012236.2:c.3697C>T, XM_017012236.1:c.3697C>T, XM_011516261.3:c.3688C>T, XM_011516261.2:c.3688C>T, XM_011516261.1:c.3688C>T, XM_011516262.3:c.3679C>T, XM_011516262.2:c.3679C>T, XM_011516262.1:c.3679C>T, XM_017012238.3:c.3667C>T, XM_017012238.2:c.3667C>T, XM_017012238.1:c.3667C>T, XM_017012239.3:c.3661C>T, XM_017012239.2:c.3661C>T, XM_017012239.1:c.3661C>T, XM_011516268.3:c.3448C>T, XM_011516268.2:c.3448C>T, XM_011516268.1:c.3448C>T, XM_011516267.3:c.3457C>T, XM_011516267.2:c.3457C>T, XM_011516267.1:c.3457C>T, XM_006716012.3:c.3448C>T, XM_006716012.2:c.3448C>T, XM_006716012.1:c.3448C>T, XM_011516269.3:c.3421C>T, XM_011516269.2:c.3421C>T, XM_011516269.1:c.3421C>T, XM_017012246.3:c.3418C>T, XM_017012246.2:c.3418C>T, XM_017012246.1:c.3418C>T, XM_006716014.3:c.3412C>T, XM_006716014.2:c.3412C>T, XM_006716014.1:c.3412C>T, XM_011516270.3:c.3409C>T, XM_011516270.2:c.3409C>T, XM_011516270.1:c.3409C>T, XM_017012248.3:c.3391C>T, XM_017012248.2:c.3391C>T, XM_017012248.1:c.3391C>T, XM_017012247.3:c.3391C>T, XM_017012247.2:c.3391C>T, XM_017012247.1:c.3391C>T, XM_017012251.3:c.3382C>T, XM_017012251.2:c.3382C>T, XM_017012251.1:c.3382C>T, XM_011516255.2:c.3736C>T, XM_011516255.1:c.3736C>T, XM_011516258.2:c.3718C>T, XM_011516258.1:c.3718C>T, XM_024446777.2:c.3382C>T, XM_024446777.1:c.3382C>T, XM_024446778.2:c.3364C>T, XM_024446778.1:c.3364C>T, XM_024446779.2:c.3304C>T, XM_024446779.1:c.3304C>T, XM_047420417.1:c.3679C>T, XM_047420418.1:c.3649C>T, XM_047420419.1:c.3406C>T, XM_047420420.1:c.3352C>T, XM_047420422.1:c.3331C>T, XM_047420424.1:c.3325C>T, XM_047420421.1:c.3322C>T, XM_047420423.1:c.3313C>T, XM_047420425.1:c.3295C>T, NM_001037133.1:c.64C>T, NP_005001.3:p.Arg1118Ter, NP_001032209.1:p.Arg1239Ter, NP_001180511.1:p.Arg1146Ter, NP_001180512.1:p.Arg1127Ter, NP_001180513.1:p.Arg1115Ter, NP_001358055.1:p.Arg1220Ter, NP_001358092.1:p.Arg1127Ter, NP_001358060.1:p.Arg1239Ter, NP_001358085.1:p.Arg1242Ter, NP_001358073.1:p.Arg1146Ter, NP_001358098.1:p.Arg1227Ter, NP_001358101.1:p.Arg1220Ter, NP_001358075.1:p.Arg1208Ter, NP_001358062.1:p.Arg1118Ter, NP_001358097.1:p.Arg1146Ter, NP_001358082.1:p.Arg1134Ter, NP_001358057.1:p.Arg1146Ter, NP_001358067.1:p.Arg1185Ter, NP_001358094.1:p.Arg1127Ter, NP_001358068.1:p.Arg1127Ter, NP_001358087.1:p.Arg1178Ter, NP_001358084.1:p.Arg1127Ter, NP_001358048.1:p.Arg1223Ter, NP_001358053.1:p.Arg1220Ter, NP_001358074.1:p.Arg1169Ter, NP_001358096.1:p.Arg1127Ter, NP_001358091.1:p.Arg1115Ter, NP_001358065.1:p.Arg1160Ter, NP_001358061.1:p.Arg1119Ter, NP_001358069.1:p.Arg1157Ter, NP_001358100.1:p.Arg1118Ter, NP_001358072.1:p.Arg1124Ter, NP_001358078.1:p.Arg1149Ter, NP_001358056.1:p.Arg1145Ter, NP_001358059.1:p.Arg1121Ter, NP_001358093.1:p.Arg1124Ter, NP_001358102.1:p.Arg1138Ter, NP_001358070.1:p.Arg1118Ter, NP_001358090.1:p.Arg1134Ter, NP_001358108.1:p.Arg1028Ter, NP_001358089.1:p.Arg1132Ter, NP_001358064.1:p.Arg1130Ter, NP_001358088.1:p.Arg1127Ter, NP_001358076.1:p.Arg1031Ter, NP_001358103.1:p.Arg1124Ter, NP_001358081.1:p.Arg1121Ter, NP_001358058.1:p.Arg1119Ter, NP_001358063.1:p.Arg1117Ter, NP_001358071.1:p.Arg1022Ter, NP_001358052.1:p.Arg1149Ter, NP_001358110.1:p.Arg1127Ter, NP_001358095.1:p.Arg1056Ter, NP_001358051.1:p.Arg1127Ter, NP_001358111.1:p.Arg1102Ter, NP_001358080.1:p.Arg1118Ter, NP_001358066.1:p.Arg815Ter, NP_001358054.1:p.Arg1031Ter, NP_001358083.1:p.Arg1056Ter, NP_001358099.1:p.Arg1032Ter, NP_001358077.1:p.Arg1028Ter, NP_001358106.1:p.Arg1127Ter, NP_001358105.1:p.Arg1121Ter, NP_001358107.1:p.Arg1118Ter, NP_001358104.1:p.Arg1018Ter, NP_001358109.1:p.Arg1028Ter, XP_011514555.1:p.Arg1246Ter, XP_006716066.1:p.Arg1243Ter, XP_011514559.1:p.Arg1240Ter, XP_011514561.1:p.Arg1236Ter, XP_016867725.1:p.Arg1233Ter, XP_011514563.1:p.Arg1230Ter, XP_011514564.1:p.Arg1227Ter, XP_016867727.1:p.Arg1223Ter, XP_016867728.1:p.Arg1221Ter, XP_011514570.1:p.Arg1150Ter, XP_011514569.1:p.Arg1153Ter, XP_006716075.1:p.Arg1150Ter, XP_011514571.1:p.Arg1141Ter, XP_016867735.1:p.Arg1140Ter, XP_006716077.1:p.Arg1138Ter, XP_011514572.1:p.Arg1137Ter, XP_016867737.1:p.Arg1131Ter, XP_016867736.1:p.Arg1131Ter, XP_016867740.1:p.Arg1128Ter, XP_011514557.1:p.Arg1246Ter, XP_011514560.1:p.Arg1240Ter, XP_024302545.1:p.Arg1128Ter, XP_024302546.1:p.Arg1122Ter, XP_024302547.1:p.Arg1102Ter, XP_047276373.1:p.Arg1227Ter, XP_047276374.1:p.Arg1217Ter, XP_047276375.1:p.Arg1136Ter, XP_047276376.1:p.Arg1118Ter, XP_047276378.1:p.Arg1111Ter, XP_047276380.1:p.Arg1109Ter, XP_047276377.1:p.Arg1108Ter, XP_047276379.1:p.Arg1105Ter, XP_047276381.1:p.Arg1099Ter

                      11.

                      rs1482681670 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:108184450 (GRCh38)
                        7:107824894 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:108184449:C:T
                        Gene:
                        NRCAM (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.00003/8 (TOPMED)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000007.14:g.108184450C>T, NC_000007.13:g.107824894C>T, NG_029898.2:g.277268G>A, NM_005010.5:c.2152G>A, NM_005010.4:c.2152G>A, NM_001037132.4:c.2200G>A, NM_001037132.3:c.2200G>A, NM_001037132.2:c.2200G>A, NM_001193582.2:c.2200G>A, NM_001193582.1:c.2200G>A, NM_001193583.2:c.2143G>A, NM_001193583.1:c.2143G>A, NM_001193584.2:c.2143G>A, NM_001193584.1:c.2143G>A, NM_001371126.1:c.2143G>A, NM_001371163.1:c.2143G>A, NM_001371131.1:c.2200G>A, NR_163868.1:n.2668G>A, NM_001371156.1:c.2200G>A, NM_001371144.1:c.2200G>A, NM_001371169.1:c.2200G>A, NM_001371172.1:c.2143G>A, NM_001371146.1:c.2143G>A, NM_001371133.1:c.2152G>A, NR_163869.1:n.2668G>A, NM_001371168.1:c.2200G>A, NM_001371153.1:c.2200G>A, NM_001371128.1:c.2200G>A, NM_001371138.1:c.2200G>A, NM_001371165.1:c.2143G>A, NM_001371139.1:c.2143G>A, NM_001371158.1:c.2143G>A, NM_001371155.1:c.2143G>A, NM_001371119.1:c.2143G>A, NM_001371124.1:c.2143G>A, NM_001371145.1:c.2143G>A, NM_001371167.1:c.2143G>A, NM_001371162.1:c.2143G>A, NR_163871.1:n.2747G>A, NM_001371136.1:c.2152G>A, NM_001371132.1:c.2143G>A, NM_001371140.1:c.2143G>A, NM_001371171.1:c.2152G>A, NM_001371143.1:c.1855G>A, NM_001371149.1:c.2200G>A, NR_163867.1:n.2668G>A, NR_163870.1:n.2749G>A, NM_001371127.1:c.2197G>A, NM_001371130.1:c.2152G>A, NM_001371150.1:c.2170G>A, NM_001371164.1:c.1855G>A, NM_001371173.1:c.2200G>A, NM_001371157.1:c.2152G>A, NM_001371141.1:c.2143G>A, NM_001371161.1:c.2200G>A, NM_001371179.1:c.1882G>A, NM_001371160.1:c.2182G>A, NM_001371135.1:c.2143G>A, NM_001371159.1:c.2170G>A, NM_001371147.1:c.1855G>A, NM_001371174.1:c.2170G>A, NM_001371152.1:c.2152G>A, NM_001371129.1:c.2143G>A, NM_001371134.1:c.2149G>A, NM_001371142.1:c.1855G>A, NM_001371123.1:c.2200G>A, NM_001371181.1:c.2143G>A, NM_001371166.1:c.2143G>A, NM_001371122.1:c.2143G>A, NM_001371182.1:c.2095G>A, NM_001371151.1:c.2152G>A, NM_001371137.1:c.1243G>A, NM_001371125.1:c.1855G>A, NM_001371154.1:c.2143G>A, NM_001371170.1:c.1882G>A, NM_001371148.1:c.1882G>A, NM_001371177.1:c.2143G>A, NM_001371176.1:c.2152G>A, NM_001371178.1:c.2152G>A, NM_001371175.1:c.2152G>A, NM_001371180.1:c.1882G>A, XM_011516265.4:c.2200G>A, XM_011516265.3:c.2200G>A, XM_011516265.2:c.2200G>A, XM_011516265.1:c.2200G>A, XM_011516253.3:c.2200G>A, XM_011516253.2:c.2200G>A, XM_011516253.1:c.2200G>A, XM_006716003.3:c.2200G>A, XM_006716003.2:c.2200G>A, XM_006716003.1:c.2200G>A, XM_011516257.3:c.2182G>A, XM_011516257.2:c.2182G>A, XM_011516257.1:c.2182G>A, XM_011516259.3:c.2170G>A, XM_011516259.2:c.2170G>A, XM_011516259.1:c.2170G>A, XM_017012236.3:c.2170G>A, XM_017012236.2:c.2170G>A, XM_017012236.1:c.2170G>A, XM_011516261.3:c.2152G>A, XM_011516261.2:c.2152G>A, XM_011516261.1:c.2152G>A, XM_011516262.3:c.2143G>A, XM_011516262.2:c.2143G>A, XM_011516262.1:c.2143G>A, XM_017012238.3:c.2143G>A, XM_017012238.2:c.2143G>A, XM_017012238.1:c.2143G>A, XM_017012239.3:c.2125G>A, XM_017012239.2:c.2125G>A, XM_017012239.1:c.2125G>A, XM_011516268.3:c.1912G>A, XM_011516268.2:c.1912G>A, XM_011516268.1:c.1912G>A, XM_011516267.3:c.2200G>A, XM_011516267.2:c.2200G>A, XM_011516267.1:c.2200G>A, XM_006716012.3:c.2200G>A, XM_006716012.2:c.2200G>A, XM_006716012.1:c.2200G>A, XM_011516269.3:c.2200G>A, XM_011516269.2:c.2200G>A, XM_011516269.1:c.2200G>A, XM_017012246.3:c.2170G>A, XM_017012246.2:c.2170G>A, XM_017012246.1:c.2170G>A, XM_006716014.3:c.2200G>A, XM_006716014.2:c.2200G>A, XM_006716014.1:c.2200G>A, XM_011516270.3:c.2200G>A, XM_011516270.2:c.2200G>A, XM_011516270.1:c.2200G>A, XM_017012248.3:c.2170G>A, XM_017012248.2:c.2170G>A, XM_017012248.1:c.2170G>A, XM_017012247.3:c.2143G>A, XM_017012247.2:c.2143G>A, XM_017012247.1:c.2143G>A, XM_017012251.3:c.2170G>A, XM_017012251.2:c.2170G>A, XM_017012251.1:c.2170G>A, XM_011516255.2:c.2200G>A, XM_011516255.1:c.2200G>A, XM_011516258.2:c.2182G>A, XM_011516258.1:c.2182G>A, XM_024446777.2:c.2182G>A, XM_024446777.1:c.2182G>A, XM_024446778.2:c.2152G>A, XM_024446778.1:c.2152G>A, XM_024446779.2:c.2095G>A, XM_024446779.1:c.2095G>A, XM_024446780.2:c.2200G>A, XM_024446780.1:c.2200G>A, XM_047420417.1:c.2152G>A, XM_047420418.1:c.2113G>A, XM_047420419.1:c.2170G>A, XM_047420420.1:c.2143G>A, XM_047420422.1:c.2095G>A, XM_047420424.1:c.2125G>A, XM_047420421.1:c.2113G>A, XM_047420423.1:c.2113G>A, XM_047420425.1:c.2095G>A, NP_005001.3:p.Glu718Lys, NP_001032209.1:p.Glu734Lys, NP_001180511.1:p.Glu734Lys, NP_001180512.1:p.Glu715Lys, NP_001180513.1:p.Glu715Lys, NP_001358055.1:p.Glu715Lys, NP_001358092.1:p.Glu715Lys, NP_001358060.1:p.Glu734Lys, NP_001358085.1:p.Glu734Lys, NP_001358073.1:p.Glu734Lys, NP_001358098.1:p.Glu734Lys, NP_001358101.1:p.Glu715Lys, NP_001358075.1:p.Glu715Lys, NP_001358062.1:p.Glu718Lys, NP_001358097.1:p.Glu734Lys, NP_001358082.1:p.Glu734Lys, NP_001358057.1:p.Glu734Lys, NP_001358067.1:p.Glu734Lys, NP_001358094.1:p.Glu715Lys, NP_001358068.1:p.Glu715Lys, NP_001358087.1:p.Glu715Lys, NP_001358084.1:p.Glu715Lys, NP_001358048.1:p.Glu715Lys, NP_001358053.1:p.Glu715Lys, NP_001358074.1:p.Glu715Lys, NP_001358096.1:p.Glu715Lys, NP_001358091.1:p.Glu715Lys, NP_001358065.1:p.Glu718Lys, NP_001358061.1:p.Glu715Lys, NP_001358069.1:p.Glu715Lys, NP_001358100.1:p.Glu718Lys, NP_001358072.1:p.Glu619Lys, NP_001358078.1:p.Glu734Lys, NP_001358056.1:p.Glu733Lys, NP_001358059.1:p.Glu718Lys, NP_001358079.1:p.Glu724Lys, NP_001358093.1:p.Glu619Lys, NP_001358102.1:p.Glu734Lys, NP_001358086.1:p.Glu718Lys, NP_001358070.1:p.Glu715Lys, NP_001358090.1:p.Glu734Lys, NP_001358108.1:p.Glu628Lys, NP_001358089.1:p.Glu728Lys, NP_001358064.1:p.Glu715Lys, NP_001358088.1:p.Glu724Lys, NP_001358076.1:p.Glu619Lys, NP_001358103.1:p.Glu724Lys, NP_001358081.1:p.Glu718Lys, NP_001358058.1:p.Glu715Lys, NP_001358063.1:p.Glu717Lys, NP_001358071.1:p.Glu619Lys, NP_001358052.1:p.Glu734Lys, NP_001358110.1:p.Glu715Lys, NP_001358095.1:p.Glu715Lys, NP_001358051.1:p.Glu715Lys, NP_001358111.1:p.Glu699Lys, NP_001358080.1:p.Glu718Lys, NP_001358066.1:p.Glu415Lys, NP_001358054.1:p.Glu619Lys, NP_001358083.1:p.Glu715Lys, NP_001358099.1:p.Glu628Lys, NP_001358077.1:p.Glu628Lys, NP_001358106.1:p.Glu715Lys, NP_001358105.1:p.Glu718Lys, NP_001358107.1:p.Glu718Lys, NP_001358104.1:p.Glu718Lys, NP_001358109.1:p.Glu628Lys, XP_011514567.1:p.Glu734Lys, XP_011514555.1:p.Glu734Lys, XP_006716066.1:p.Glu734Lys, XP_011514559.1:p.Glu728Lys, XP_011514561.1:p.Glu724Lys, XP_016867725.1:p.Glu724Lys, XP_011514563.1:p.Glu718Lys, XP_011514564.1:p.Glu715Lys, XP_016867727.1:p.Glu715Lys, XP_016867728.1:p.Glu709Lys, XP_011514570.1:p.Glu638Lys, XP_011514569.1:p.Glu734Lys, XP_006716075.1:p.Glu734Lys, XP_011514571.1:p.Glu734Lys, XP_016867735.1:p.Glu724Lys, XP_006716077.1:p.Glu734Lys, XP_011514572.1:p.Glu734Lys, XP_016867737.1:p.Glu724Lys, XP_016867736.1:p.Glu715Lys, XP_016867740.1:p.Glu724Lys, XP_011514557.1:p.Glu734Lys, XP_011514560.1:p.Glu728Lys, XP_024302545.1:p.Glu728Lys, XP_024302546.1:p.Glu718Lys, XP_024302547.1:p.Glu699Lys, XP_024302548.1:p.Glu734Lys, XP_047276373.1:p.Glu718Lys, XP_047276374.1:p.Glu705Lys, XP_047276375.1:p.Glu724Lys, XP_047276376.1:p.Glu715Lys, XP_047276378.1:p.Glu699Lys, XP_047276380.1:p.Glu709Lys, XP_047276377.1:p.Glu705Lys, XP_047276379.1:p.Glu705Lys, XP_047276381.1:p.Glu699Lys

                        12.

                        rs1482614687 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          7:108149992 (GRCh38)
                          7:107790437 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:108149991:C:A
                          Gene:
                          NRCAM (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000007.14:g.108149992C>A, NC_000007.13:g.107790437C>A, NG_029898.2:g.311726G>T, NM_005010.5:c.3470G>T, NM_005010.4:c.3470G>T, NM_001037132.4:c.3833G>T, NM_001037132.3:c.3833G>T, NM_001037132.2:c.3833G>T, NM_001193582.2:c.3554G>T, NM_001193582.1:c.3554G>T, NM_001193583.2:c.3497G>T, NM_001193583.1:c.3497G>T, NM_001193584.2:c.3461G>T, NM_001193584.1:c.3461G>T, NM_001371126.1:c.3776G>T, NM_001371163.1:c.3497G>T, NM_001371131.1:c.3833G>T, NR_163868.1:n.4372G>T, NM_001371156.1:c.3842G>T, NM_001371144.1:c.3554G>T, NM_001371169.1:c.3797G>T, NM_001371172.1:c.3776G>T, NM_001371146.1:c.3740G>T, NM_001371133.1:c.3470G>T, NR_163869.1:n.4237G>T, NM_001371168.1:c.3554G>T, NM_001371153.1:c.3518G>T, NM_001371128.1:c.3554G>T, NM_001371138.1:c.3671G>T, NM_001371165.1:c.3497G>T, NM_001371139.1:c.3497G>T, NM_001371158.1:c.3650G>T, NM_001371155.1:c.3497G>T, NM_001371119.1:c.3785G>T, NM_001371124.1:c.3776G>T, NM_001371145.1:c.3623G>T, NM_001371167.1:c.3497G>T, NM_001371162.1:c.3461G>T, NR_163871.1:n.4127G>T, NM_001371136.1:c.3596G>T, NM_001371132.1:c.3473G>T, NM_001371140.1:c.3587G>T, NM_001371171.1:c.3470G>T, NM_001371143.1:c.3488G>T, NM_001371149.1:c.3563G>T, NR_163867.1:n.4084G>T, NR_163870.1:n.4076G>T, NM_001371127.1:c.3551G>T, NM_001371130.1:c.3479G>T, NM_001371150.1:c.*181G>T, NM_001371164.1:c.3488G>T, NM_001371173.1:c.3530G>T, NM_001371157.1:c.*181G>T, NM_001371141.1:c.3470G>T, NM_001371161.1:c.3518G>T, NM_001371179.1:c.3200G>T, NM_001371160.1:c.3512G>T, NM_001371135.1:c.3506G>T, NM_001371159.1:c.3497G>T, NM_001371147.1:c.3209G>T, NM_001371174.1:c.3488G>T, NM_001371152.1:c.3479G>T, NM_001371129.1:c.3473G>T, NM_001371134.1:c.3467G>T, NM_001371142.1:c.3182G>T, NM_001371123.1:c.3563G>T, NM_001371181.1:c.3497G>T, NM_001371166.1:c.3284G>T, NM_001371122.1:c.3497G>T, NM_001371182.1:c.3422G>T, NM_001371151.1:c.3470G>T, NM_001371137.1:c.2561G>T, NM_001371125.1:c.3209G>T, NM_001371154.1:c.3284G>T, NM_001371170.1:c.3212G>T, NM_001371148.1:c.3200G>T, NM_001371177.1:c.3497G>T, NM_001371176.1:c.3479G>T, NM_001371178.1:c.3470G>T, NM_001371175.1:c.3170G>T, NM_001371180.1:c.3200G>T, XM_011516253.3:c.3854G>T, XM_011516253.2:c.3854G>T, XM_011516253.1:c.3854G>T, XM_006716003.3:c.3845G>T, XM_006716003.2:c.3845G>T, XM_006716003.1:c.3845G>T, XM_011516257.3:c.3836G>T, XM_011516257.2:c.3836G>T, XM_011516257.1:c.3836G>T, XM_011516259.3:c.3824G>T, XM_011516259.2:c.3824G>T, XM_011516259.1:c.3824G>T, XM_017012236.3:c.3815G>T, XM_017012236.2:c.3815G>T, XM_017012236.1:c.3815G>T, XM_011516261.3:c.3806G>T, XM_011516261.2:c.3806G>T, XM_011516261.1:c.3806G>T, XM_011516262.3:c.3797G>T, XM_011516262.2:c.3797G>T, XM_011516262.1:c.3797G>T, XM_017012238.3:c.3785G>T, XM_017012238.2:c.3785G>T, XM_017012238.1:c.3785G>T, XM_017012239.3:c.3779G>T, XM_017012239.2:c.3779G>T, XM_017012239.1:c.3779G>T, XM_011516268.3:c.3566G>T, XM_011516268.2:c.3566G>T, XM_011516268.1:c.3566G>T, XM_011516267.3:c.3575G>T, XM_011516267.2:c.3575G>T, XM_011516267.1:c.3575G>T, XM_006716012.3:c.3566G>T, XM_006716012.2:c.3566G>T, XM_006716012.1:c.3566G>T, XM_011516269.3:c.3539G>T, XM_011516269.2:c.3539G>T, XM_011516269.1:c.3539G>T, XM_017012246.3:c.3536G>T, XM_017012246.2:c.3536G>T, XM_017012246.1:c.3536G>T, XM_006716014.3:c.3530G>T, XM_006716014.2:c.3530G>T, XM_006716014.1:c.3530G>T, XM_011516270.3:c.3527G>T, XM_011516270.2:c.3527G>T, XM_011516270.1:c.3527G>T, XM_017012248.3:c.3509G>T, XM_017012248.2:c.3509G>T, XM_017012248.1:c.3509G>T, XM_017012247.3:c.3509G>T, XM_017012247.2:c.3509G>T, XM_017012247.1:c.3509G>T, XM_017012251.3:c.3500G>T, XM_017012251.2:c.3500G>T, XM_017012251.1:c.3500G>T, XM_011516255.2:c.3854G>T, XM_011516255.1:c.3854G>T, XM_011516258.2:c.3836G>T, XM_011516258.1:c.3836G>T, XM_024446777.2:c.3500G>T, XM_024446777.1:c.3500G>T, XM_024446778.2:c.3482G>T, XM_024446778.1:c.3482G>T, XM_024446779.2:c.3422G>T, XM_024446779.1:c.3422G>T, XM_047420417.1:c.3797G>T, XM_047420418.1:c.3767G>T, XM_047420419.1:c.3524G>T, XM_047420420.1:c.3470G>T, XM_047420422.1:c.3449G>T, XM_047420424.1:c.3443G>T, XM_047420421.1:c.3440G>T, XM_047420423.1:c.3431G>T, XM_047420425.1:c.3413G>T, NM_001037133.1:c.182G>T, NP_005001.3:p.Gly1157Val, NP_001032209.1:p.Gly1278Val, NP_001180511.1:p.Gly1185Val, NP_001180512.1:p.Gly1166Val, NP_001180513.1:p.Gly1154Val, NP_001358055.1:p.Gly1259Val, NP_001358092.1:p.Gly1166Val, NP_001358060.1:p.Gly1278Val, NP_001358085.1:p.Gly1281Val, NP_001358073.1:p.Gly1185Val, NP_001358098.1:p.Gly1266Val, NP_001358101.1:p.Gly1259Val, NP_001358075.1:p.Gly1247Val, NP_001358062.1:p.Gly1157Val, NP_001358097.1:p.Gly1185Val, NP_001358082.1:p.Gly1173Val, NP_001358057.1:p.Gly1185Val, NP_001358067.1:p.Gly1224Val, NP_001358094.1:p.Gly1166Val, NP_001358068.1:p.Gly1166Val, NP_001358087.1:p.Gly1217Val, NP_001358084.1:p.Gly1166Val, NP_001358048.1:p.Gly1262Val, NP_001358053.1:p.Gly1259Val, NP_001358074.1:p.Gly1208Val, NP_001358096.1:p.Gly1166Val, NP_001358091.1:p.Gly1154Val, NP_001358065.1:p.Gly1199Val, NP_001358061.1:p.Gly1158Val, NP_001358069.1:p.Gly1196Val, NP_001358100.1:p.Gly1157Val, NP_001358072.1:p.Gly1163Val, NP_001358078.1:p.Gly1188Val, NP_001358056.1:p.Gly1184Val, NP_001358059.1:p.Gly1160Val, NP_001358093.1:p.Gly1163Val, NP_001358102.1:p.Gly1177Val, NP_001358070.1:p.Gly1157Val, NP_001358090.1:p.Gly1173Val, NP_001358108.1:p.Gly1067Val, NP_001358089.1:p.Gly1171Val, NP_001358064.1:p.Gly1169Val, NP_001358088.1:p.Gly1166Val, NP_001358076.1:p.Gly1070Val, NP_001358103.1:p.Gly1163Val, NP_001358081.1:p.Gly1160Val, NP_001358058.1:p.Gly1158Val, NP_001358063.1:p.Gly1156Val, NP_001358071.1:p.Gly1061Val, NP_001358052.1:p.Gly1188Val, NP_001358110.1:p.Gly1166Val, NP_001358095.1:p.Gly1095Val, NP_001358051.1:p.Gly1166Val, NP_001358111.1:p.Gly1141Val, NP_001358080.1:p.Gly1157Val, NP_001358066.1:p.Gly854Val, NP_001358054.1:p.Gly1070Val, NP_001358083.1:p.Gly1095Val, NP_001358099.1:p.Gly1071Val, NP_001358077.1:p.Gly1067Val, NP_001358106.1:p.Gly1166Val, NP_001358105.1:p.Gly1160Val, NP_001358107.1:p.Gly1157Val, NP_001358104.1:p.Gly1057Val, NP_001358109.1:p.Gly1067Val, XP_011514555.1:p.Gly1285Val, XP_006716066.1:p.Gly1282Val, XP_011514559.1:p.Gly1279Val, XP_011514561.1:p.Gly1275Val, XP_016867725.1:p.Gly1272Val, XP_011514563.1:p.Gly1269Val, XP_011514564.1:p.Gly1266Val, XP_016867727.1:p.Gly1262Val, XP_016867728.1:p.Gly1260Val, XP_011514570.1:p.Gly1189Val, XP_011514569.1:p.Gly1192Val, XP_006716075.1:p.Gly1189Val, XP_011514571.1:p.Gly1180Val, XP_016867735.1:p.Gly1179Val, XP_006716077.1:p.Gly1177Val, XP_011514572.1:p.Gly1176Val, XP_016867737.1:p.Gly1170Val, XP_016867736.1:p.Gly1170Val, XP_016867740.1:p.Gly1167Val, XP_011514557.1:p.Gly1285Val, XP_011514560.1:p.Gly1279Val, XP_024302545.1:p.Gly1167Val, XP_024302546.1:p.Gly1161Val, XP_024302547.1:p.Gly1141Val, XP_047276373.1:p.Gly1266Val, XP_047276374.1:p.Gly1256Val, XP_047276375.1:p.Gly1175Val, XP_047276376.1:p.Gly1157Val, XP_047276378.1:p.Gly1150Val, XP_047276380.1:p.Gly1148Val, XP_047276377.1:p.Gly1147Val, XP_047276379.1:p.Gly1144Val, XP_047276381.1:p.Gly1138Val

                          13.

                          rs1482541669 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            7:108159483 (GRCh38)
                            7:107799928 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:108159482:A:G
                            Gene:
                            NRCAM (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000111/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.108159483A>G, NC_000007.13:g.107799928A>G, NG_029898.2:g.302235T>C, NM_005010.5:c.3294T>C, NM_005010.4:c.3294T>C, NM_001037132.4:c.3657T>C, NM_001037132.3:c.3657T>C, NM_001037132.2:c.3657T>C, NM_001193582.2:c.3378T>C, NM_001193582.1:c.3378T>C, NM_001193583.2:c.3321T>C, NM_001193583.1:c.3321T>C, NM_001193584.2:c.3285T>C, NM_001193584.1:c.3285T>C, NM_001371126.1:c.3600T>C, NM_001371163.1:c.3321T>C, NM_001371131.1:c.3657T>C, NR_163868.1:n.4134T>C, NM_001371156.1:c.3666T>C, NM_001371144.1:c.3378T>C, NM_001371169.1:c.3621T>C, NM_001371172.1:c.3600T>C, NM_001371146.1:c.3564T>C, NM_001371133.1:c.3294T>C, NR_163869.1:n.3999T>C, NM_001371168.1:c.3378T>C, NM_001371153.1:c.3342T>C, NM_001371128.1:c.3378T>C, NM_001371138.1:c.3495T>C, NM_001371165.1:c.3321T>C, NM_001371139.1:c.3321T>C, NM_001371158.1:c.3474T>C, NM_001371155.1:c.3321T>C, NM_001371119.1:c.3609T>C, NM_001371124.1:c.3600T>C, NM_001371145.1:c.3447T>C, NM_001371167.1:c.3321T>C, NM_001371162.1:c.3285T>C, NR_163871.1:n.3889T>C, NM_001371136.1:c.3420T>C, NM_001371132.1:c.3297T>C, NM_001371140.1:c.3411T>C, NM_001371171.1:c.3294T>C, NM_001371143.1:c.3312T>C, NM_001371149.1:c.3387T>C, NR_163867.1:n.3846T>C, NR_163870.1:n.3900T>C, NM_001371127.1:c.3375T>C, NM_001371130.1:c.3303T>C, NM_001371150.1:c.3312T>C, NM_001371164.1:c.3312T>C, NM_001371173.1:c.3354T>C, NM_001371157.1:c.3294T>C, NM_001371141.1:c.3294T>C, NM_001371161.1:c.3342T>C, NM_001371179.1:c.3024T>C, NM_001371160.1:c.3324T>C, NM_001371135.1:c.3330T>C, NM_001371159.1:c.3321T>C, NM_001371147.1:c.3033T>C, NM_001371174.1:c.3312T>C, NM_001371152.1:c.3303T>C, NM_001371129.1:c.3297T>C, NM_001371134.1:c.3291T>C, NM_001371142.1:c.3006T>C, NM_001371123.1:c.3387T>C, NM_001371181.1:c.3321T>C, NM_001371166.1:c.3108T>C, NM_001371122.1:c.3321T>C, NM_001371182.1:c.3246T>C, NM_001371151.1:c.3294T>C, NM_001371137.1:c.2385T>C, NM_001371125.1:c.3033T>C, NM_001371154.1:c.3108T>C, NM_001371170.1:c.3024T>C, NM_001371148.1:c.3024T>C, NM_001371177.1:c.3321T>C, NM_001371176.1:c.3303T>C, NM_001371178.1:c.3294T>C, NM_001371175.1:c.2994T>C, NM_001371180.1:c.3024T>C, XM_011516265.4:c.3666T>C, XM_011516265.3:c.3666T>C, XM_011516265.2:c.3666T>C, XM_011516265.1:c.3666T>C, XM_011516253.3:c.3666T>C, XM_011516253.2:c.3666T>C, XM_011516253.1:c.3666T>C, XM_006716003.3:c.3657T>C, XM_006716003.2:c.3657T>C, XM_006716003.1:c.3657T>C, XM_011516257.3:c.3648T>C, XM_011516257.2:c.3648T>C, XM_011516257.1:c.3648T>C, XM_011516259.3:c.3636T>C, XM_011516259.2:c.3636T>C, XM_011516259.1:c.3636T>C, XM_017012236.3:c.3627T>C, XM_017012236.2:c.3627T>C, XM_017012236.1:c.3627T>C, XM_011516261.3:c.3618T>C, XM_011516261.2:c.3618T>C, XM_011516261.1:c.3618T>C, XM_011516262.3:c.3609T>C, XM_011516262.2:c.3609T>C, XM_011516262.1:c.3609T>C, XM_017012238.3:c.3609T>C, XM_017012238.2:c.3609T>C, XM_017012238.1:c.3609T>C, XM_017012239.3:c.3591T>C, XM_017012239.2:c.3591T>C, XM_017012239.1:c.3591T>C, XM_011516268.3:c.3378T>C, XM_011516268.2:c.3378T>C, XM_011516268.1:c.3378T>C, XM_011516267.3:c.3387T>C, XM_011516267.2:c.3387T>C, XM_011516267.1:c.3387T>C, XM_006716012.3:c.3378T>C, XM_006716012.2:c.3378T>C, XM_006716012.1:c.3378T>C, XM_011516269.3:c.3351T>C, XM_011516269.2:c.3351T>C, XM_011516269.1:c.3351T>C, XM_017012246.3:c.3348T>C, XM_017012246.2:c.3348T>C, XM_017012246.1:c.3348T>C, XM_006716014.3:c.3342T>C, XM_006716014.2:c.3342T>C, XM_006716014.1:c.3342T>C, XM_011516270.3:c.3351T>C, XM_011516270.2:c.3351T>C, XM_011516270.1:c.3351T>C, XM_017012248.3:c.3321T>C, XM_017012248.2:c.3321T>C, XM_017012248.1:c.3321T>C, XM_017012247.3:c.3321T>C, XM_017012247.2:c.3321T>C, XM_017012247.1:c.3321T>C, XM_017012251.3:c.3312T>C, XM_017012251.2:c.3312T>C, XM_017012251.1:c.3312T>C, XM_011516255.2:c.3666T>C, XM_011516255.1:c.3666T>C, XM_011516258.2:c.3648T>C, XM_011516258.1:c.3648T>C, XM_024446777.2:c.3324T>C, XM_024446777.1:c.3324T>C, XM_024446778.2:c.3294T>C, XM_024446778.1:c.3294T>C, XM_024446779.2:c.3246T>C, XM_024446779.1:c.3246T>C, XM_024446780.2:c.3342T>C, XM_024446780.1:c.3342T>C, XM_047420417.1:c.3609T>C, XM_047420418.1:c.3579T>C, XM_047420419.1:c.3348T>C, XM_047420420.1:c.3294T>C, XM_047420422.1:c.3273T>C, XM_047420424.1:c.3267T>C, XM_047420421.1:c.3264T>C, XM_047420423.1:c.3255T>C, XM_047420425.1:c.3237T>C

                            14.

                            rs1481119446 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              7:108182794 (GRCh38)
                              7:107823238 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:108182793:T:G
                              Gene:
                              NRCAM (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.108182794T>G, NC_000007.13:g.107823238T>G, NG_029898.2:g.278924A>C, NM_005010.5:c.2383A>C, NM_005010.4:c.2383A>C, NM_001037132.4:c.2431A>C, NM_001037132.3:c.2431A>C, NM_001037132.2:c.2431A>C, NM_001193582.2:c.2431A>C, NM_001193582.1:c.2431A>C, NM_001193583.2:c.2374A>C, NM_001193583.1:c.2374A>C, NM_001193584.2:c.2374A>C, NM_001193584.1:c.2374A>C, NM_001371126.1:c.2374A>C, NM_001371163.1:c.2374A>C, NM_001371131.1:c.2431A>C, NR_163868.1:n.2899A>C, NM_001371156.1:c.2431A>C, NM_001371144.1:c.2431A>C, NM_001371169.1:c.2431A>C, NM_001371172.1:c.2374A>C, NM_001371146.1:c.2374A>C, NM_001371133.1:c.2383A>C, NR_163869.1:n.2899A>C, NM_001371168.1:c.2431A>C, NM_001371153.1:c.2431A>C, NM_001371128.1:c.2431A>C, NM_001371138.1:c.2431A>C, NM_001371165.1:c.2374A>C, NM_001371139.1:c.2374A>C, NM_001371158.1:c.2374A>C, NM_001371155.1:c.2374A>C, NM_001371119.1:c.2374A>C, NM_001371124.1:c.2374A>C, NM_001371145.1:c.2374A>C, NM_001371167.1:c.2374A>C, NM_001371162.1:c.2374A>C, NR_163871.1:n.2978A>C, NM_001371136.1:c.2383A>C, NM_001371132.1:c.2374A>C, NM_001371140.1:c.2374A>C, NM_001371171.1:c.2383A>C, NM_001371143.1:c.2086A>C, NM_001371149.1:c.2431A>C, NR_163867.1:n.2899A>C, NR_163870.1:n.2980A>C, NM_001371127.1:c.2428A>C, NM_001371130.1:c.2383A>C, NM_001371150.1:c.2401A>C, NM_001371164.1:c.2086A>C, NM_001371173.1:c.2431A>C, NM_001371157.1:c.2383A>C, NM_001371141.1:c.2374A>C, NM_001371161.1:c.2431A>C, NM_001371179.1:c.2113A>C, NM_001371160.1:c.2413A>C, NM_001371135.1:c.2374A>C, NM_001371159.1:c.2401A>C, NM_001371147.1:c.2086A>C, NM_001371174.1:c.2401A>C, NM_001371152.1:c.2383A>C, NM_001371129.1:c.2374A>C, NM_001371134.1:c.2380A>C, NM_001371142.1:c.2086A>C, NM_001371123.1:c.2431A>C, NM_001371181.1:c.2374A>C, NM_001371166.1:c.2374A>C, NM_001371122.1:c.2374A>C, NM_001371182.1:c.2326A>C, NM_001371151.1:c.2383A>C, NM_001371137.1:c.1474A>C, NM_001371125.1:c.2086A>C, NM_001371154.1:c.2374A>C, NM_001371170.1:c.2113A>C, NM_001371148.1:c.2113A>C, NM_001371177.1:c.2374A>C, NM_001371176.1:c.2383A>C, NM_001371178.1:c.2383A>C, NM_001371175.1:c.2383A>C, NM_001371180.1:c.2113A>C, XM_011516265.4:c.2431A>C, XM_011516265.3:c.2431A>C, XM_011516265.2:c.2431A>C, XM_011516265.1:c.2431A>C, XM_011516253.3:c.2431A>C, XM_011516253.2:c.2431A>C, XM_011516253.1:c.2431A>C, XM_006716003.3:c.2431A>C, XM_006716003.2:c.2431A>C, XM_006716003.1:c.2431A>C, XM_011516257.3:c.2413A>C, XM_011516257.2:c.2413A>C, XM_011516257.1:c.2413A>C, XM_011516259.3:c.2401A>C, XM_011516259.2:c.2401A>C, XM_011516259.1:c.2401A>C, XM_017012236.3:c.2401A>C, XM_017012236.2:c.2401A>C, XM_017012236.1:c.2401A>C, XM_011516261.3:c.2383A>C, XM_011516261.2:c.2383A>C, XM_011516261.1:c.2383A>C, XM_011516262.3:c.2374A>C, XM_011516262.2:c.2374A>C, XM_011516262.1:c.2374A>C, XM_017012238.3:c.2374A>C, XM_017012238.2:c.2374A>C, XM_017012238.1:c.2374A>C, XM_017012239.3:c.2356A>C, XM_017012239.2:c.2356A>C, XM_017012239.1:c.2356A>C, XM_011516268.3:c.2143A>C, XM_011516268.2:c.2143A>C, XM_011516268.1:c.2143A>C, XM_011516267.3:c.2431A>C, XM_011516267.2:c.2431A>C, XM_011516267.1:c.2431A>C, XM_006716012.3:c.2431A>C, XM_006716012.2:c.2431A>C, XM_006716012.1:c.2431A>C, XM_011516269.3:c.2431A>C, XM_011516269.2:c.2431A>C, XM_011516269.1:c.2431A>C, XM_017012246.3:c.2401A>C, XM_017012246.2:c.2401A>C, XM_017012246.1:c.2401A>C, XM_006716014.3:c.2431A>C, XM_006716014.2:c.2431A>C, XM_006716014.1:c.2431A>C, XM_011516270.3:c.2431A>C, XM_011516270.2:c.2431A>C, XM_011516270.1:c.2431A>C, XM_017012248.3:c.2401A>C, XM_017012248.2:c.2401A>C, XM_017012248.1:c.2401A>C, XM_017012247.3:c.2374A>C, XM_017012247.2:c.2374A>C, XM_017012247.1:c.2374A>C, XM_017012251.3:c.2401A>C, XM_017012251.2:c.2401A>C, XM_017012251.1:c.2401A>C, XM_011516255.2:c.2431A>C, XM_011516255.1:c.2431A>C, XM_011516258.2:c.2413A>C, XM_011516258.1:c.2413A>C, XM_024446777.2:c.2413A>C, XM_024446777.1:c.2413A>C, XM_024446778.2:c.2383A>C, XM_024446778.1:c.2383A>C, XM_024446779.2:c.2326A>C, XM_024446779.1:c.2326A>C, XM_024446780.2:c.2431A>C, XM_024446780.1:c.2431A>C, XM_047420417.1:c.2383A>C, XM_047420418.1:c.2344A>C, XM_047420419.1:c.2401A>C, XM_047420420.1:c.2374A>C, XM_047420422.1:c.2326A>C, XM_047420424.1:c.2356A>C, XM_047420421.1:c.2344A>C, XM_047420423.1:c.2344A>C, XM_047420425.1:c.2326A>C, NP_005001.3:p.Thr795Pro, NP_001032209.1:p.Thr811Pro, NP_001180511.1:p.Thr811Pro, NP_001180512.1:p.Thr792Pro, NP_001180513.1:p.Thr792Pro, NP_001358055.1:p.Thr792Pro, NP_001358092.1:p.Thr792Pro, NP_001358060.1:p.Thr811Pro, NP_001358085.1:p.Thr811Pro, NP_001358073.1:p.Thr811Pro, NP_001358098.1:p.Thr811Pro, NP_001358101.1:p.Thr792Pro, NP_001358075.1:p.Thr792Pro, NP_001358062.1:p.Thr795Pro, NP_001358097.1:p.Thr811Pro, NP_001358082.1:p.Thr811Pro, NP_001358057.1:p.Thr811Pro, NP_001358067.1:p.Thr811Pro, NP_001358094.1:p.Thr792Pro, NP_001358068.1:p.Thr792Pro, NP_001358087.1:p.Thr792Pro, NP_001358084.1:p.Thr792Pro, NP_001358048.1:p.Thr792Pro, NP_001358053.1:p.Thr792Pro, NP_001358074.1:p.Thr792Pro, NP_001358096.1:p.Thr792Pro, NP_001358091.1:p.Thr792Pro, NP_001358065.1:p.Thr795Pro, NP_001358061.1:p.Thr792Pro, NP_001358069.1:p.Thr792Pro, NP_001358100.1:p.Thr795Pro, NP_001358072.1:p.Thr696Pro, NP_001358078.1:p.Thr811Pro, NP_001358056.1:p.Thr810Pro, NP_001358059.1:p.Thr795Pro, NP_001358079.1:p.Thr801Pro, NP_001358093.1:p.Thr696Pro, NP_001358102.1:p.Thr811Pro, NP_001358086.1:p.Thr795Pro, NP_001358070.1:p.Thr792Pro, NP_001358090.1:p.Thr811Pro, NP_001358108.1:p.Thr705Pro, NP_001358089.1:p.Thr805Pro, NP_001358064.1:p.Thr792Pro, NP_001358088.1:p.Thr801Pro, NP_001358076.1:p.Thr696Pro, NP_001358103.1:p.Thr801Pro, NP_001358081.1:p.Thr795Pro, NP_001358058.1:p.Thr792Pro, NP_001358063.1:p.Thr794Pro, NP_001358071.1:p.Thr696Pro, NP_001358052.1:p.Thr811Pro, NP_001358110.1:p.Thr792Pro, NP_001358095.1:p.Thr792Pro, NP_001358051.1:p.Thr792Pro, NP_001358111.1:p.Thr776Pro, NP_001358080.1:p.Thr795Pro, NP_001358066.1:p.Thr492Pro, NP_001358054.1:p.Thr696Pro, NP_001358083.1:p.Thr792Pro, NP_001358099.1:p.Thr705Pro, NP_001358077.1:p.Thr705Pro, NP_001358106.1:p.Thr792Pro, NP_001358105.1:p.Thr795Pro, NP_001358107.1:p.Thr795Pro, NP_001358104.1:p.Thr795Pro, NP_001358109.1:p.Thr705Pro, XP_011514567.1:p.Thr811Pro, XP_011514555.1:p.Thr811Pro, XP_006716066.1:p.Thr811Pro, XP_011514559.1:p.Thr805Pro, XP_011514561.1:p.Thr801Pro, XP_016867725.1:p.Thr801Pro, XP_011514563.1:p.Thr795Pro, XP_011514564.1:p.Thr792Pro, XP_016867727.1:p.Thr792Pro, XP_016867728.1:p.Thr786Pro, XP_011514570.1:p.Thr715Pro, XP_011514569.1:p.Thr811Pro, XP_006716075.1:p.Thr811Pro, XP_011514571.1:p.Thr811Pro, XP_016867735.1:p.Thr801Pro, XP_006716077.1:p.Thr811Pro, XP_011514572.1:p.Thr811Pro, XP_016867737.1:p.Thr801Pro, XP_016867736.1:p.Thr792Pro, XP_016867740.1:p.Thr801Pro, XP_011514557.1:p.Thr811Pro, XP_011514560.1:p.Thr805Pro, XP_024302545.1:p.Thr805Pro, XP_024302546.1:p.Thr795Pro, XP_024302547.1:p.Thr776Pro, XP_024302548.1:p.Thr811Pro, XP_047276373.1:p.Thr795Pro, XP_047276374.1:p.Thr782Pro, XP_047276375.1:p.Thr801Pro, XP_047276376.1:p.Thr792Pro, XP_047276378.1:p.Thr776Pro, XP_047276380.1:p.Thr786Pro, XP_047276377.1:p.Thr782Pro, XP_047276379.1:p.Thr782Pro, XP_047276381.1:p.Thr776Pro

                              15.

                              rs1480606027 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:108180286 (GRCh38)
                                7:107820730 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:108180285:C:T
                                Gene:
                                NRCAM (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000094/1 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000007.14:g.108180286C>T, NC_000007.13:g.107820730C>T, NG_029898.2:g.281432G>A, NM_005010.5:c.2740G>A, NM_005010.4:c.2740G>A, NM_001037132.4:c.2788G>A, NM_001037132.3:c.2788G>A, NM_001037132.2:c.2788G>A, NM_001193582.2:c.2788G>A, NM_001193582.1:c.2788G>A, NM_001193583.2:c.2731G>A, NM_001193583.1:c.2731G>A, NM_001193584.2:c.2731G>A, NM_001193584.1:c.2731G>A, NM_001371126.1:c.2731G>A, NM_001371163.1:c.2731G>A, NM_001371131.1:c.2788G>A, NR_163868.1:n.3256G>A, NM_001371156.1:c.2788G>A, NM_001371144.1:c.2788G>A, NM_001371169.1:c.2788G>A, NM_001371172.1:c.2731G>A, NM_001371146.1:c.2731G>A, NM_001371133.1:c.2740G>A, NR_163869.1:n.3256G>A, NM_001371168.1:c.2788G>A, NM_001371153.1:c.2788G>A, NM_001371128.1:c.2788G>A, NM_001371138.1:c.2788G>A, NM_001371165.1:c.2731G>A, NM_001371139.1:c.2731G>A, NM_001371158.1:c.2731G>A, NM_001371155.1:c.2731G>A, NM_001371119.1:c.2731G>A, NM_001371124.1:c.2731G>A, NM_001371145.1:c.2731G>A, NM_001371167.1:c.2731G>A, NM_001371162.1:c.2731G>A, NR_163871.1:n.3335G>A, NM_001371136.1:c.2740G>A, NM_001371132.1:c.2731G>A, NM_001371140.1:c.2731G>A, NM_001371171.1:c.2740G>A, NM_001371143.1:c.2443G>A, NM_001371149.1:c.2788G>A, NR_163867.1:n.3256G>A, NR_163870.1:n.3337G>A, NM_001371127.1:c.2785G>A, NM_001371130.1:c.2740G>A, NM_001371150.1:c.2758G>A, NM_001371164.1:c.2443G>A, NM_001371173.1:c.2788G>A, NM_001371157.1:c.2740G>A, NM_001371141.1:c.2731G>A, NM_001371161.1:c.2788G>A, NM_001371179.1:c.2470G>A, NM_001371160.1:c.2770G>A, NM_001371135.1:c.2731G>A, NM_001371159.1:c.2758G>A, NM_001371147.1:c.2443G>A, NM_001371174.1:c.2758G>A, NM_001371152.1:c.2740G>A, NM_001371129.1:c.2731G>A, NM_001371134.1:c.2737G>A, NM_001371142.1:c.2443G>A, NM_001371123.1:c.2788G>A, NM_001371181.1:c.2731G>A, NM_001371166.1:c.2731G>A, NM_001371122.1:c.2731G>A, NM_001371182.1:c.2683G>A, NM_001371151.1:c.2740G>A, NM_001371137.1:c.1831G>A, NM_001371125.1:c.2443G>A, NM_001371154.1:c.2731G>A, NM_001371170.1:c.2470G>A, NM_001371148.1:c.2470G>A, NM_001371177.1:c.2731G>A, NM_001371176.1:c.2740G>A, NM_001371178.1:c.2740G>A, NM_001371175.1:c.2740G>A, NM_001371180.1:c.2470G>A, XM_011516265.4:c.2788G>A, XM_011516265.3:c.2788G>A, XM_011516265.2:c.2788G>A, XM_011516265.1:c.2788G>A, XM_011516253.3:c.2788G>A, XM_011516253.2:c.2788G>A, XM_011516253.1:c.2788G>A, XM_006716003.3:c.2788G>A, XM_006716003.2:c.2788G>A, XM_006716003.1:c.2788G>A, XM_011516257.3:c.2770G>A, XM_011516257.2:c.2770G>A, XM_011516257.1:c.2770G>A, XM_011516259.3:c.2758G>A, XM_011516259.2:c.2758G>A, XM_011516259.1:c.2758G>A, XM_017012236.3:c.2758G>A, XM_017012236.2:c.2758G>A, XM_017012236.1:c.2758G>A, XM_011516261.3:c.2740G>A, XM_011516261.2:c.2740G>A, XM_011516261.1:c.2740G>A, XM_011516262.3:c.2731G>A, XM_011516262.2:c.2731G>A, XM_011516262.1:c.2731G>A, XM_017012238.3:c.2731G>A, XM_017012238.2:c.2731G>A, XM_017012238.1:c.2731G>A, XM_017012239.3:c.2713G>A, XM_017012239.2:c.2713G>A, XM_017012239.1:c.2713G>A, XM_011516268.3:c.2500G>A, XM_011516268.2:c.2500G>A, XM_011516268.1:c.2500G>A, XM_011516267.3:c.2788G>A, XM_011516267.2:c.2788G>A, XM_011516267.1:c.2788G>A, XM_006716012.3:c.2788G>A, XM_006716012.2:c.2788G>A, XM_006716012.1:c.2788G>A, XM_011516269.3:c.2788G>A, XM_011516269.2:c.2788G>A, XM_011516269.1:c.2788G>A, XM_017012246.3:c.2758G>A, XM_017012246.2:c.2758G>A, XM_017012246.1:c.2758G>A, XM_006716014.3:c.2788G>A, XM_006716014.2:c.2788G>A, XM_006716014.1:c.2788G>A, XM_011516270.3:c.2788G>A, XM_011516270.2:c.2788G>A, XM_011516270.1:c.2788G>A, XM_017012248.3:c.2758G>A, XM_017012248.2:c.2758G>A, XM_017012248.1:c.2758G>A, XM_017012247.3:c.2731G>A, XM_017012247.2:c.2731G>A, XM_017012247.1:c.2731G>A, XM_017012251.3:c.2758G>A, XM_017012251.2:c.2758G>A, XM_017012251.1:c.2758G>A, XM_011516255.2:c.2788G>A, XM_011516255.1:c.2788G>A, XM_011516258.2:c.2770G>A, XM_011516258.1:c.2770G>A, XM_024446777.2:c.2770G>A, XM_024446777.1:c.2770G>A, XM_024446778.2:c.2740G>A, XM_024446778.1:c.2740G>A, XM_024446779.2:c.2683G>A, XM_024446779.1:c.2683G>A, XM_024446780.2:c.2788G>A, XM_024446780.1:c.2788G>A, XM_047420417.1:c.2740G>A, XM_047420418.1:c.2701G>A, XM_047420419.1:c.2758G>A, XM_047420420.1:c.2731G>A, XM_047420422.1:c.2683G>A, XM_047420424.1:c.2713G>A, XM_047420421.1:c.2701G>A, XM_047420423.1:c.2701G>A, XM_047420425.1:c.2683G>A, NP_005001.3:p.Val914Met, NP_001032209.1:p.Val930Met, NP_001180511.1:p.Val930Met, NP_001180512.1:p.Val911Met, NP_001180513.1:p.Val911Met, NP_001358055.1:p.Val911Met, NP_001358092.1:p.Val911Met, NP_001358060.1:p.Val930Met, NP_001358085.1:p.Val930Met, NP_001358073.1:p.Val930Met, NP_001358098.1:p.Val930Met, NP_001358101.1:p.Val911Met, NP_001358075.1:p.Val911Met, NP_001358062.1:p.Val914Met, NP_001358097.1:p.Val930Met, NP_001358082.1:p.Val930Met, NP_001358057.1:p.Val930Met, NP_001358067.1:p.Val930Met, NP_001358094.1:p.Val911Met, NP_001358068.1:p.Val911Met, NP_001358087.1:p.Val911Met, NP_001358084.1:p.Val911Met, NP_001358048.1:p.Val911Met, NP_001358053.1:p.Val911Met, NP_001358074.1:p.Val911Met, NP_001358096.1:p.Val911Met, NP_001358091.1:p.Val911Met, NP_001358065.1:p.Val914Met, NP_001358061.1:p.Val911Met, NP_001358069.1:p.Val911Met, NP_001358100.1:p.Val914Met, NP_001358072.1:p.Val815Met, NP_001358078.1:p.Val930Met, NP_001358056.1:p.Val929Met, NP_001358059.1:p.Val914Met, NP_001358079.1:p.Val920Met, NP_001358093.1:p.Val815Met, NP_001358102.1:p.Val930Met, NP_001358086.1:p.Val914Met, NP_001358070.1:p.Val911Met, NP_001358090.1:p.Val930Met, NP_001358108.1:p.Val824Met, NP_001358089.1:p.Val924Met, NP_001358064.1:p.Val911Met, NP_001358088.1:p.Val920Met, NP_001358076.1:p.Val815Met, NP_001358103.1:p.Val920Met, NP_001358081.1:p.Val914Met, NP_001358058.1:p.Val911Met, NP_001358063.1:p.Val913Met, NP_001358071.1:p.Val815Met, NP_001358052.1:p.Val930Met, NP_001358110.1:p.Val911Met, NP_001358095.1:p.Val911Met, NP_001358051.1:p.Val911Met, NP_001358111.1:p.Val895Met, NP_001358080.1:p.Val914Met, NP_001358066.1:p.Val611Met, NP_001358054.1:p.Val815Met, NP_001358083.1:p.Val911Met, NP_001358099.1:p.Val824Met, NP_001358077.1:p.Val824Met, NP_001358106.1:p.Val911Met, NP_001358105.1:p.Val914Met, NP_001358107.1:p.Val914Met, NP_001358104.1:p.Val914Met, NP_001358109.1:p.Val824Met, XP_011514567.1:p.Val930Met, XP_011514555.1:p.Val930Met, XP_006716066.1:p.Val930Met, XP_011514559.1:p.Val924Met, XP_011514561.1:p.Val920Met, XP_016867725.1:p.Val920Met, XP_011514563.1:p.Val914Met, XP_011514564.1:p.Val911Met, XP_016867727.1:p.Val911Met, XP_016867728.1:p.Val905Met, XP_011514570.1:p.Val834Met, XP_011514569.1:p.Val930Met, XP_006716075.1:p.Val930Met, XP_011514571.1:p.Val930Met, XP_016867735.1:p.Val920Met, XP_006716077.1:p.Val930Met, XP_011514572.1:p.Val930Met, XP_016867737.1:p.Val920Met, XP_016867736.1:p.Val911Met, XP_016867740.1:p.Val920Met, XP_011514557.1:p.Val930Met, XP_011514560.1:p.Val924Met, XP_024302545.1:p.Val924Met, XP_024302546.1:p.Val914Met, XP_024302547.1:p.Val895Met, XP_024302548.1:p.Val930Met, XP_047276373.1:p.Val914Met, XP_047276374.1:p.Val901Met, XP_047276375.1:p.Val920Met, XP_047276376.1:p.Val911Met, XP_047276378.1:p.Val895Met, XP_047276380.1:p.Val905Met, XP_047276377.1:p.Val901Met, XP_047276379.1:p.Val901Met, XP_047276381.1:p.Val895Met

                                16.

                                rs1480401981 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:108195775 (GRCh38)
                                  7:107836219 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:108195774:G:A
                                  Gene:
                                  NRCAM (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000007.14:g.108195775G>A, NC_000007.13:g.107836219G>A, NG_029898.2:g.265943C>T, NM_005010.5:c.1431C>T, NM_005010.4:c.1431C>T, NM_001037132.4:c.1449C>T, NM_001037132.3:c.1449C>T, NM_001037132.2:c.1449C>T, NM_001193582.2:c.1449C>T, NM_001193582.1:c.1449C>T, NM_001193583.2:c.1392C>T, NM_001193583.1:c.1392C>T, NM_001193584.2:c.1392C>T, NM_001193584.1:c.1392C>T, NM_001371126.1:c.1392C>T, NM_001371163.1:c.1392C>T, NM_001371131.1:c.1449C>T, NR_163868.1:n.1917C>T, NM_001371156.1:c.1449C>T, NM_001371144.1:c.1449C>T, NM_001371169.1:c.1449C>T, NM_001371172.1:c.1392C>T, NM_001371146.1:c.1392C>T, NM_001371133.1:c.1431C>T, NR_163869.1:n.1917C>T, NM_001371168.1:c.1449C>T, NM_001371153.1:c.1449C>T, NM_001371128.1:c.1449C>T, NM_001371138.1:c.1449C>T, NM_001371165.1:c.1392C>T, NM_001371139.1:c.1392C>T, NM_001371158.1:c.1392C>T, NM_001371155.1:c.1392C>T, NM_001371119.1:c.1392C>T, NM_001371124.1:c.1392C>T, NM_001371145.1:c.1392C>T, NM_001371167.1:c.1392C>T, NM_001371162.1:c.1392C>T, NR_163871.1:n.2026C>T, NM_001371136.1:c.1431C>T, NM_001371132.1:c.1392C>T, NM_001371140.1:c.1392C>T, NM_001371171.1:c.1431C>T, NM_001371143.1:c.1104C>T, NM_001371149.1:c.1449C>T, NR_163867.1:n.1917C>T, NR_163870.1:n.1956C>T, NM_001371127.1:c.1446C>T, NM_001371130.1:c.1431C>T, NM_001371150.1:c.1449C>T, NM_001371164.1:c.1104C>T, NM_001371173.1:c.1449C>T, NM_001371157.1:c.1431C>T, NM_001371141.1:c.1392C>T, NM_001371161.1:c.1449C>T, NM_001371179.1:c.1161C>T, NM_001371160.1:c.1431C>T, NM_001371135.1:c.1392C>T, NM_001371159.1:c.1449C>T, NM_001371147.1:c.1104C>T, NM_001371174.1:c.1449C>T, NM_001371152.1:c.1431C>T, NM_001371129.1:c.1392C>T, NM_001371134.1:c.1428C>T, NM_001371142.1:c.1104C>T, NM_001371123.1:c.1449C>T, NM_001371181.1:c.1392C>T, NM_001371166.1:c.1392C>T, NM_001371122.1:c.1392C>T, NM_001371182.1:c.1374C>T, NM_001371151.1:c.1431C>T, NM_001371137.1:c.522C>T, NM_001371125.1:c.1104C>T, NM_001371154.1:c.1392C>T, NM_001371170.1:c.1161C>T, NM_001371148.1:c.1161C>T, NM_001371177.1:c.1392C>T, NM_001371176.1:c.1431C>T, NM_001371178.1:c.1431C>T, NM_001371175.1:c.1431C>T, NM_001371180.1:c.1161C>T, XM_011516265.4:c.1449C>T, XM_011516265.3:c.1449C>T, XM_011516265.2:c.1449C>T, XM_011516265.1:c.1449C>T, XM_011516253.3:c.1449C>T, XM_011516253.2:c.1449C>T, XM_011516253.1:c.1449C>T, XM_006716003.3:c.1449C>T, XM_006716003.2:c.1449C>T, XM_006716003.1:c.1449C>T, XM_011516257.3:c.1431C>T, XM_011516257.2:c.1431C>T, XM_011516257.1:c.1431C>T, XM_011516259.3:c.1449C>T, XM_011516259.2:c.1449C>T, XM_011516259.1:c.1449C>T, XM_017012236.3:c.1449C>T, XM_017012236.2:c.1449C>T, XM_017012236.1:c.1449C>T, XM_011516261.3:c.1431C>T, XM_011516261.2:c.1431C>T, XM_011516261.1:c.1431C>T, XM_011516262.3:c.1392C>T, XM_011516262.2:c.1392C>T, XM_011516262.1:c.1392C>T, XM_017012238.3:c.1392C>T, XM_017012238.2:c.1392C>T, XM_017012238.1:c.1392C>T, XM_017012239.3:c.1374C>T, XM_017012239.2:c.1374C>T, XM_017012239.1:c.1374C>T, XM_011516268.3:c.1161C>T, XM_011516268.2:c.1161C>T, XM_011516268.1:c.1161C>T, XM_011516267.3:c.1449C>T, XM_011516267.2:c.1449C>T, XM_011516267.1:c.1449C>T, XM_006716012.3:c.1449C>T, XM_006716012.2:c.1449C>T, XM_006716012.1:c.1449C>T, XM_011516269.3:c.1449C>T, XM_011516269.2:c.1449C>T, XM_011516269.1:c.1449C>T, XM_017012246.3:c.1449C>T, XM_017012246.2:c.1449C>T, XM_017012246.1:c.1449C>T, XM_006716014.3:c.1449C>T, XM_006716014.2:c.1449C>T, XM_006716014.1:c.1449C>T, XM_011516270.3:c.1449C>T, XM_011516270.2:c.1449C>T, XM_011516270.1:c.1449C>T, XM_017012248.3:c.1449C>T, XM_017012248.2:c.1449C>T, XM_017012248.1:c.1449C>T, XM_017012247.3:c.1392C>T, XM_017012247.2:c.1392C>T, XM_017012247.1:c.1392C>T, XM_017012251.3:c.1449C>T, XM_017012251.2:c.1449C>T, XM_017012251.1:c.1449C>T, XM_011516255.2:c.1449C>T, XM_011516255.1:c.1449C>T, XM_011516258.2:c.1431C>T, XM_011516258.1:c.1431C>T, XM_024446777.2:c.1431C>T, XM_024446777.1:c.1431C>T, XM_024446778.2:c.1431C>T, XM_024446778.1:c.1431C>T, XM_024446779.2:c.1374C>T, XM_024446779.1:c.1374C>T, XM_024446780.2:c.1449C>T, XM_024446780.1:c.1449C>T, XM_047420417.1:c.1431C>T, XM_047420418.1:c.1392C>T, XM_047420419.1:c.1449C>T, XM_047420420.1:c.1392C>T, XM_047420422.1:c.1374C>T, XM_047420424.1:c.1374C>T, XM_047420421.1:c.1392C>T, XM_047420423.1:c.1392C>T, XM_047420425.1:c.1374C>T

                                  17.

                                  rs1480351065 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    7:108209584 (GRCh38)
                                    7:107850028 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:108209583:C:A
                                    Gene:
                                    NRCAM (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000007.14:g.108209584C>A, NC_000007.13:g.107850028C>A, NG_029898.2:g.252134G>T, NM_005010.5:c.894G>T, NM_005010.4:c.894G>T, NM_001037132.4:c.912G>T, NM_001037132.3:c.912G>T, NM_001037132.2:c.912G>T, NM_001193582.2:c.912G>T, NM_001193582.1:c.912G>T, NM_001193583.2:c.855G>T, NM_001193583.1:c.855G>T, NM_001193584.2:c.855G>T, NM_001193584.1:c.855G>T, NM_001371126.1:c.855G>T, NM_001371163.1:c.855G>T, NM_001371131.1:c.912G>T, NR_163868.1:n.1380G>T, NM_001371156.1:c.912G>T, NM_001371144.1:c.912G>T, NM_001371169.1:c.912G>T, NM_001371172.1:c.855G>T, NM_001371146.1:c.855G>T, NM_001371133.1:c.894G>T, NR_163869.1:n.1380G>T, NM_001371168.1:c.912G>T, NM_001371153.1:c.912G>T, NM_001371128.1:c.912G>T, NM_001371138.1:c.912G>T, NM_001371165.1:c.855G>T, NM_001371139.1:c.855G>T, NM_001371158.1:c.855G>T, NM_001371155.1:c.855G>T, NM_001371119.1:c.855G>T, NM_001371124.1:c.855G>T, NM_001371145.1:c.855G>T, NM_001371167.1:c.855G>T, NM_001371162.1:c.855G>T, NR_163871.1:n.1489G>T, NM_001371136.1:c.894G>T, NM_001371132.1:c.855G>T, NM_001371140.1:c.855G>T, NM_001371171.1:c.894G>T, NM_001371143.1:c.567G>T, NM_001371149.1:c.912G>T, NR_163867.1:n.1380G>T, NR_163870.1:n.1419G>T, NM_001371127.1:c.909G>T, NM_001371130.1:c.894G>T, NM_001371150.1:c.912G>T, NM_001371164.1:c.567G>T, NM_001371173.1:c.912G>T, NM_001371157.1:c.894G>T, NM_001371141.1:c.855G>T, NM_001371161.1:c.912G>T, NM_001371179.1:c.624G>T, NM_001371160.1:c.894G>T, NM_001371135.1:c.855G>T, NM_001371159.1:c.912G>T, NM_001371147.1:c.567G>T, NM_001371174.1:c.912G>T, NM_001371152.1:c.894G>T, NM_001371129.1:c.855G>T, NM_001371134.1:c.891G>T, NM_001371142.1:c.567G>T, NM_001371123.1:c.912G>T, NM_001371181.1:c.855G>T, NM_001371166.1:c.855G>T, NM_001371122.1:c.855G>T, NM_001371182.1:c.837G>T, NM_001371151.1:c.894G>T, NM_001371137.1:c.-16G>T, NM_001371125.1:c.567G>T, NM_001371154.1:c.855G>T, NM_001371170.1:c.624G>T, NM_001371148.1:c.624G>T, NM_001371177.1:c.855G>T, NM_001371176.1:c.894G>T, NM_001371178.1:c.894G>T, NM_001371175.1:c.894G>T, NM_001371180.1:c.624G>T, XM_011516265.4:c.912G>T, XM_011516265.3:c.912G>T, XM_011516265.2:c.912G>T, XM_011516265.1:c.912G>T, XM_011516253.3:c.912G>T, XM_011516253.2:c.912G>T, XM_011516253.1:c.912G>T, XM_006716003.3:c.912G>T, XM_006716003.2:c.912G>T, XM_006716003.1:c.912G>T, XM_011516257.3:c.894G>T, XM_011516257.2:c.894G>T, XM_011516257.1:c.894G>T, XM_011516259.3:c.912G>T, XM_011516259.2:c.912G>T, XM_011516259.1:c.912G>T, XM_017012236.3:c.912G>T, XM_017012236.2:c.912G>T, XM_017012236.1:c.912G>T, XM_011516261.3:c.894G>T, XM_011516261.2:c.894G>T, XM_011516261.1:c.894G>T, XM_011516262.3:c.855G>T, XM_011516262.2:c.855G>T, XM_011516262.1:c.855G>T, XM_017012238.3:c.855G>T, XM_017012238.2:c.855G>T, XM_017012238.1:c.855G>T, XM_017012239.3:c.837G>T, XM_017012239.2:c.837G>T, XM_017012239.1:c.837G>T, XM_011516268.3:c.624G>T, XM_011516268.2:c.624G>T, XM_011516268.1:c.624G>T, XM_011516267.3:c.912G>T, XM_011516267.2:c.912G>T, XM_011516267.1:c.912G>T, XM_006716012.3:c.912G>T, XM_006716012.2:c.912G>T, XM_006716012.1:c.912G>T, XM_011516269.3:c.912G>T, XM_011516269.2:c.912G>T, XM_011516269.1:c.912G>T, XM_017012246.3:c.912G>T, XM_017012246.2:c.912G>T, XM_017012246.1:c.912G>T, XM_006716014.3:c.912G>T, XM_006716014.2:c.912G>T, XM_006716014.1:c.912G>T, XM_011516270.3:c.912G>T, XM_011516270.2:c.912G>T, XM_011516270.1:c.912G>T, XM_017012248.3:c.912G>T, XM_017012248.2:c.912G>T, XM_017012248.1:c.912G>T, XM_017012247.3:c.855G>T, XM_017012247.2:c.855G>T, XM_017012247.1:c.855G>T, XM_017012251.3:c.912G>T, XM_017012251.2:c.912G>T, XM_017012251.1:c.912G>T, XM_011516255.2:c.912G>T, XM_011516255.1:c.912G>T, XM_011516258.2:c.894G>T, XM_011516258.1:c.894G>T, XM_024446777.2:c.894G>T, XM_024446777.1:c.894G>T, XM_024446778.2:c.894G>T, XM_024446778.1:c.894G>T, XM_024446779.2:c.837G>T, XM_024446779.1:c.837G>T, XM_024446780.2:c.912G>T, XM_024446780.1:c.912G>T, XM_047420417.1:c.894G>T, XM_047420418.1:c.855G>T, XM_047420419.1:c.912G>T, XM_047420420.1:c.855G>T, XM_047420422.1:c.837G>T, XM_047420424.1:c.837G>T, XM_047420421.1:c.855G>T, XM_047420423.1:c.855G>T, XM_047420425.1:c.837G>T, NP_005001.3:p.Trp298Cys, NP_001032209.1:p.Trp304Cys, NP_001180511.1:p.Trp304Cys, NP_001180512.1:p.Trp285Cys, NP_001180513.1:p.Trp285Cys, NP_001358055.1:p.Trp285Cys, NP_001358092.1:p.Trp285Cys, NP_001358060.1:p.Trp304Cys, NP_001358085.1:p.Trp304Cys, NP_001358073.1:p.Trp304Cys, NP_001358098.1:p.Trp304Cys, NP_001358101.1:p.Trp285Cys, NP_001358075.1:p.Trp285Cys, NP_001358062.1:p.Trp298Cys, NP_001358097.1:p.Trp304Cys, NP_001358082.1:p.Trp304Cys, NP_001358057.1:p.Trp304Cys, NP_001358067.1:p.Trp304Cys, NP_001358094.1:p.Trp285Cys, NP_001358068.1:p.Trp285Cys, NP_001358087.1:p.Trp285Cys, NP_001358084.1:p.Trp285Cys, NP_001358048.1:p.Trp285Cys, NP_001358053.1:p.Trp285Cys, NP_001358074.1:p.Trp285Cys, NP_001358096.1:p.Trp285Cys, NP_001358091.1:p.Trp285Cys, NP_001358065.1:p.Trp298Cys, NP_001358061.1:p.Trp285Cys, NP_001358069.1:p.Trp285Cys, NP_001358100.1:p.Trp298Cys, NP_001358072.1:p.Trp189Cys, NP_001358078.1:p.Trp304Cys, NP_001358056.1:p.Trp303Cys, NP_001358059.1:p.Trp298Cys, NP_001358079.1:p.Trp304Cys, NP_001358093.1:p.Trp189Cys, NP_001358102.1:p.Trp304Cys, NP_001358086.1:p.Trp298Cys, NP_001358070.1:p.Trp285Cys, NP_001358090.1:p.Trp304Cys, NP_001358108.1:p.Trp208Cys, NP_001358089.1:p.Trp298Cys, NP_001358064.1:p.Trp285Cys, NP_001358088.1:p.Trp304Cys, NP_001358076.1:p.Trp189Cys, NP_001358103.1:p.Trp304Cys, NP_001358081.1:p.Trp298Cys, NP_001358058.1:p.Trp285Cys, NP_001358063.1:p.Trp297Cys, NP_001358071.1:p.Trp189Cys, NP_001358052.1:p.Trp304Cys, NP_001358110.1:p.Trp285Cys, NP_001358095.1:p.Trp285Cys, NP_001358051.1:p.Trp285Cys, NP_001358111.1:p.Trp279Cys, NP_001358080.1:p.Trp298Cys, NP_001358054.1:p.Trp189Cys, NP_001358083.1:p.Trp285Cys, NP_001358099.1:p.Trp208Cys, NP_001358077.1:p.Trp208Cys, NP_001358106.1:p.Trp285Cys, NP_001358105.1:p.Trp298Cys, NP_001358107.1:p.Trp298Cys, NP_001358104.1:p.Trp298Cys, NP_001358109.1:p.Trp208Cys, XP_011514567.1:p.Trp304Cys, XP_011514555.1:p.Trp304Cys, XP_006716066.1:p.Trp304Cys, XP_011514559.1:p.Trp298Cys, XP_011514561.1:p.Trp304Cys, XP_016867725.1:p.Trp304Cys, XP_011514563.1:p.Trp298Cys, XP_011514564.1:p.Trp285Cys, XP_016867727.1:p.Trp285Cys, XP_016867728.1:p.Trp279Cys, XP_011514570.1:p.Trp208Cys, XP_011514569.1:p.Trp304Cys, XP_006716075.1:p.Trp304Cys, XP_011514571.1:p.Trp304Cys, XP_016867735.1:p.Trp304Cys, XP_006716077.1:p.Trp304Cys, XP_011514572.1:p.Trp304Cys, XP_016867737.1:p.Trp304Cys, XP_016867736.1:p.Trp285Cys, XP_016867740.1:p.Trp304Cys, XP_011514557.1:p.Trp304Cys, XP_011514560.1:p.Trp298Cys, XP_024302545.1:p.Trp298Cys, XP_024302546.1:p.Trp298Cys, XP_024302547.1:p.Trp279Cys, XP_024302548.1:p.Trp304Cys, XP_047276373.1:p.Trp298Cys, XP_047276374.1:p.Trp285Cys, XP_047276375.1:p.Trp304Cys, XP_047276376.1:p.Trp285Cys, XP_047276378.1:p.Trp279Cys, XP_047276380.1:p.Trp279Cys, XP_047276377.1:p.Trp285Cys, XP_047276379.1:p.Trp285Cys, XP_047276381.1:p.Trp279Cys

                                    18.

                                    rs1480063120 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      7:108168391 (GRCh38)
                                      7:107808836 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:108168390:T:C
                                      Gene:
                                      NRCAM (Varview), LOC102724363 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.108168391T>C, NC_000007.13:g.107808836T>C, NG_029898.2:g.293327A>G, NM_001037132.4:c.3199A>G, NM_001037132.3:c.3199A>G, NM_001037132.2:c.3199A>G, NM_001371126.1:c.3142A>G, NM_001371131.1:c.3199A>G, NR_163868.1:n.3676A>G, NM_001371156.1:c.3208A>G, NM_001371169.1:c.3163A>G, NM_001371172.1:c.3142A>G, NM_001371146.1:c.3106A>G, NM_001371119.1:c.3151A>G, NM_001371124.1:c.3142A>G, NM_001371145.1:c.3142A>G, NM_001371136.1:c.3115A>G, NM_001371140.1:c.3106A>G, NM_001371143.1:c.2854A>G, NM_001371164.1:c.2854A>G, XM_011516265.4:c.3208A>G, XM_011516265.3:c.3208A>G, XM_011516265.2:c.3208A>G, XM_011516265.1:c.3208A>G, XM_011516253.3:c.3208A>G, XM_011516253.2:c.3208A>G, XM_011516253.1:c.3208A>G, XM_006716003.3:c.3199A>G, XM_006716003.2:c.3199A>G, XM_006716003.1:c.3199A>G, XM_011516257.3:c.3190A>G, XM_011516257.2:c.3190A>G, XM_011516257.1:c.3190A>G, XM_011516259.3:c.3178A>G, XM_011516259.2:c.3178A>G, XM_011516259.1:c.3178A>G, XM_017012236.3:c.3169A>G, XM_017012236.2:c.3169A>G, XM_017012236.1:c.3169A>G, XM_011516261.3:c.3160A>G, XM_011516261.2:c.3160A>G, XM_011516261.1:c.3160A>G, XM_011516262.3:c.3151A>G, XM_011516262.2:c.3151A>G, XM_011516262.1:c.3151A>G, XM_017012238.3:c.3151A>G, XM_017012238.2:c.3151A>G, XM_017012238.1:c.3151A>G, XM_017012239.3:c.3133A>G, XM_017012239.2:c.3133A>G, XM_017012239.1:c.3133A>G, XM_011516268.3:c.2920A>G, XM_011516268.2:c.2920A>G, XM_011516268.1:c.2920A>G, XM_011516255.2:c.3208A>G, XM_011516255.1:c.3208A>G, XM_011516258.2:c.3190A>G, XM_011516258.1:c.3190A>G, XM_047420417.1:c.3151A>G, XM_047420418.1:c.3121A>G, NP_001032209.1:p.Asn1067Asp, NP_001358055.1:p.Asn1048Asp, NP_001358060.1:p.Asn1067Asp, NP_001358085.1:p.Asn1070Asp, NP_001358098.1:p.Asn1055Asp, NP_001358101.1:p.Asn1048Asp, NP_001358075.1:p.Asn1036Asp, NP_001358048.1:p.Asn1051Asp, NP_001358053.1:p.Asn1048Asp, NP_001358074.1:p.Asn1048Asp, NP_001358065.1:p.Asn1039Asp, NP_001358069.1:p.Asn1036Asp, NP_001358072.1:p.Asn952Asp, NP_001358093.1:p.Asn952Asp, XP_011514567.1:p.Asn1070Asp, XP_011514555.1:p.Asn1070Asp, XP_006716066.1:p.Asn1067Asp, XP_011514559.1:p.Asn1064Asp, XP_011514561.1:p.Asn1060Asp, XP_016867725.1:p.Asn1057Asp, XP_011514563.1:p.Asn1054Asp, XP_011514564.1:p.Asn1051Asp, XP_016867727.1:p.Asn1051Asp, XP_016867728.1:p.Asn1045Asp, XP_011514570.1:p.Asn974Asp, XP_011514557.1:p.Asn1070Asp, XP_011514560.1:p.Asn1064Asp, XP_047276373.1:p.Asn1051Asp, XP_047276374.1:p.Asn1041Asp

                                      19.

                                      rs1478824137 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:108191745 (GRCh38)
                                        7:107832189 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:108191744:A:G
                                        Gene:
                                        NRCAM (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.108191745A>G, NC_000007.13:g.107832189A>G, NG_029898.2:g.269973T>C, NM_005010.5:c.1869T>C, NM_005010.4:c.1869T>C, NM_001037132.4:c.1887T>C, NM_001037132.3:c.1887T>C, NM_001037132.2:c.1887T>C, NM_001193582.2:c.1887T>C, NM_001193582.1:c.1887T>C, NM_001193583.2:c.1830T>C, NM_001193583.1:c.1830T>C, NM_001193584.2:c.1830T>C, NM_001193584.1:c.1830T>C, NM_001371126.1:c.1830T>C, NM_001371163.1:c.1830T>C, NM_001371131.1:c.1887T>C, NR_163868.1:n.2355T>C, NM_001371156.1:c.1887T>C, NM_001371144.1:c.1887T>C, NM_001371169.1:c.1887T>C, NM_001371172.1:c.1830T>C, NM_001371146.1:c.1830T>C, NM_001371133.1:c.1869T>C, NR_163869.1:n.2355T>C, NM_001371168.1:c.1887T>C, NM_001371153.1:c.1887T>C, NM_001371128.1:c.1887T>C, NM_001371138.1:c.1887T>C, NM_001371165.1:c.1830T>C, NM_001371139.1:c.1830T>C, NM_001371158.1:c.1830T>C, NM_001371155.1:c.1830T>C, NM_001371119.1:c.1830T>C, NM_001371124.1:c.1830T>C, NM_001371145.1:c.1830T>C, NM_001371167.1:c.1830T>C, NM_001371162.1:c.1830T>C, NR_163871.1:n.2464T>C, NM_001371136.1:c.1869T>C, NM_001371132.1:c.1830T>C, NM_001371140.1:c.1830T>C, NM_001371171.1:c.1869T>C, NM_001371143.1:c.1542T>C, NM_001371149.1:c.1887T>C, NR_163867.1:n.2355T>C, NR_163870.1:n.2394T>C, NM_001371127.1:c.1884T>C, NM_001371130.1:c.1869T>C, NM_001371150.1:c.1887T>C, NM_001371164.1:c.1542T>C, NM_001371173.1:c.1887T>C, NM_001371157.1:c.1869T>C, NM_001371141.1:c.1830T>C, NM_001371161.1:c.1887T>C, NM_001371179.1:c.1599T>C, NM_001371160.1:c.1869T>C, NM_001371135.1:c.1830T>C, NM_001371159.1:c.1887T>C, NM_001371147.1:c.1542T>C, NM_001371174.1:c.1887T>C, NM_001371152.1:c.1869T>C, NM_001371129.1:c.1830T>C, NM_001371134.1:c.1866T>C, NM_001371142.1:c.1542T>C, NM_001371123.1:c.1887T>C, NM_001371181.1:c.1830T>C, NM_001371166.1:c.1830T>C, NM_001371122.1:c.1830T>C, NM_001371182.1:c.1812T>C, NM_001371151.1:c.1869T>C, NM_001371137.1:c.960T>C, NM_001371125.1:c.1542T>C, NM_001371154.1:c.1830T>C, NM_001371170.1:c.1599T>C, NM_001371148.1:c.1599T>C, NM_001371177.1:c.1830T>C, NM_001371176.1:c.1869T>C, NM_001371178.1:c.1869T>C, NM_001371175.1:c.1869T>C, NM_001371180.1:c.1599T>C, XM_011516265.4:c.1887T>C, XM_011516265.3:c.1887T>C, XM_011516265.2:c.1887T>C, XM_011516265.1:c.1887T>C, XM_011516253.3:c.1887T>C, XM_011516253.2:c.1887T>C, XM_011516253.1:c.1887T>C, XM_006716003.3:c.1887T>C, XM_006716003.2:c.1887T>C, XM_006716003.1:c.1887T>C, XM_011516257.3:c.1869T>C, XM_011516257.2:c.1869T>C, XM_011516257.1:c.1869T>C, XM_011516259.3:c.1887T>C, XM_011516259.2:c.1887T>C, XM_011516259.1:c.1887T>C, XM_017012236.3:c.1887T>C, XM_017012236.2:c.1887T>C, XM_017012236.1:c.1887T>C, XM_011516261.3:c.1869T>C, XM_011516261.2:c.1869T>C, XM_011516261.1:c.1869T>C, XM_011516262.3:c.1830T>C, XM_011516262.2:c.1830T>C, XM_011516262.1:c.1830T>C, XM_017012238.3:c.1830T>C, XM_017012238.2:c.1830T>C, XM_017012238.1:c.1830T>C, XM_017012239.3:c.1812T>C, XM_017012239.2:c.1812T>C, XM_017012239.1:c.1812T>C, XM_011516268.3:c.1599T>C, XM_011516268.2:c.1599T>C, XM_011516268.1:c.1599T>C, XM_011516267.3:c.1887T>C, XM_011516267.2:c.1887T>C, XM_011516267.1:c.1887T>C, XM_006716012.3:c.1887T>C, XM_006716012.2:c.1887T>C, XM_006716012.1:c.1887T>C, XM_011516269.3:c.1887T>C, XM_011516269.2:c.1887T>C, XM_011516269.1:c.1887T>C, XM_017012246.3:c.1887T>C, XM_017012246.2:c.1887T>C, XM_017012246.1:c.1887T>C, XM_006716014.3:c.1887T>C, XM_006716014.2:c.1887T>C, XM_006716014.1:c.1887T>C, XM_011516270.3:c.1887T>C, XM_011516270.2:c.1887T>C, XM_011516270.1:c.1887T>C, XM_017012248.3:c.1887T>C, XM_017012248.2:c.1887T>C, XM_017012248.1:c.1887T>C, XM_017012247.3:c.1830T>C, XM_017012247.2:c.1830T>C, XM_017012247.1:c.1830T>C, XM_017012251.3:c.1887T>C, XM_017012251.2:c.1887T>C, XM_017012251.1:c.1887T>C, XM_011516255.2:c.1887T>C, XM_011516255.1:c.1887T>C, XM_011516258.2:c.1869T>C, XM_011516258.1:c.1869T>C, XM_024446777.2:c.1869T>C, XM_024446777.1:c.1869T>C, XM_024446778.2:c.1869T>C, XM_024446778.1:c.1869T>C, XM_024446779.2:c.1812T>C, XM_024446779.1:c.1812T>C, XM_024446780.2:c.1887T>C, XM_024446780.1:c.1887T>C, XM_047420417.1:c.1869T>C, XM_047420418.1:c.1830T>C, XM_047420419.1:c.1887T>C, XM_047420420.1:c.1830T>C, XM_047420422.1:c.1812T>C, XM_047420424.1:c.1812T>C, XM_047420421.1:c.1830T>C, XM_047420423.1:c.1830T>C, XM_047420425.1:c.1812T>C

                                        20.

                                        rs1476173219 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          7:108209598 (GRCh38)
                                          7:107850042 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:108209597:G:C
                                          Gene:
                                          NRCAM (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000007.14:g.108209598G>C, NC_000007.13:g.107850042G>C, NG_029898.2:g.252120C>G, NM_005010.5:c.880C>G, NM_005010.4:c.880C>G, NM_001037132.4:c.898C>G, NM_001037132.3:c.898C>G, NM_001037132.2:c.898C>G, NM_001193582.2:c.898C>G, NM_001193582.1:c.898C>G, NM_001193583.2:c.841C>G, NM_001193583.1:c.841C>G, NM_001193584.2:c.841C>G, NM_001193584.1:c.841C>G, NM_001371126.1:c.841C>G, NM_001371163.1:c.841C>G, NM_001371131.1:c.898C>G, NR_163868.1:n.1366C>G, NM_001371156.1:c.898C>G, NM_001371144.1:c.898C>G, NM_001371169.1:c.898C>G, NM_001371172.1:c.841C>G, NM_001371146.1:c.841C>G, NM_001371133.1:c.880C>G, NR_163869.1:n.1366C>G, NM_001371168.1:c.898C>G, NM_001371153.1:c.898C>G, NM_001371128.1:c.898C>G, NM_001371138.1:c.898C>G, NM_001371165.1:c.841C>G, NM_001371139.1:c.841C>G, NM_001371158.1:c.841C>G, NM_001371155.1:c.841C>G, NM_001371119.1:c.841C>G, NM_001371124.1:c.841C>G, NM_001371145.1:c.841C>G, NM_001371167.1:c.841C>G, NM_001371162.1:c.841C>G, NR_163871.1:n.1475C>G, NM_001371136.1:c.880C>G, NM_001371132.1:c.841C>G, NM_001371140.1:c.841C>G, NM_001371171.1:c.880C>G, NM_001371143.1:c.553C>G, NM_001371149.1:c.898C>G, NR_163867.1:n.1366C>G, NR_163870.1:n.1405C>G, NM_001371127.1:c.895C>G, NM_001371130.1:c.880C>G, NM_001371150.1:c.898C>G, NM_001371164.1:c.553C>G, NM_001371173.1:c.898C>G, NM_001371157.1:c.880C>G, NM_001371141.1:c.841C>G, NM_001371161.1:c.898C>G, NM_001371179.1:c.610C>G, NM_001371160.1:c.880C>G, NM_001371135.1:c.841C>G, NM_001371159.1:c.898C>G, NM_001371147.1:c.553C>G, NM_001371174.1:c.898C>G, NM_001371152.1:c.880C>G, NM_001371129.1:c.841C>G, NM_001371134.1:c.877C>G, NM_001371142.1:c.553C>G, NM_001371123.1:c.898C>G, NM_001371181.1:c.841C>G, NM_001371166.1:c.841C>G, NM_001371122.1:c.841C>G, NM_001371182.1:c.823C>G, NM_001371151.1:c.880C>G, NM_001371137.1:c.-30C>G, NM_001371125.1:c.553C>G, NM_001371154.1:c.841C>G, NM_001371170.1:c.610C>G, NM_001371148.1:c.610C>G, NM_001371177.1:c.841C>G, NM_001371176.1:c.880C>G, NM_001371178.1:c.880C>G, NM_001371175.1:c.880C>G, NM_001371180.1:c.610C>G, XM_011516265.4:c.898C>G, XM_011516265.3:c.898C>G, XM_011516265.2:c.898C>G, XM_011516265.1:c.898C>G, XM_011516253.3:c.898C>G, XM_011516253.2:c.898C>G, XM_011516253.1:c.898C>G, XM_006716003.3:c.898C>G, XM_006716003.2:c.898C>G, XM_006716003.1:c.898C>G, XM_011516257.3:c.880C>G, XM_011516257.2:c.880C>G, XM_011516257.1:c.880C>G, XM_011516259.3:c.898C>G, XM_011516259.2:c.898C>G, XM_011516259.1:c.898C>G, XM_017012236.3:c.898C>G, XM_017012236.2:c.898C>G, XM_017012236.1:c.898C>G, XM_011516261.3:c.880C>G, XM_011516261.2:c.880C>G, XM_011516261.1:c.880C>G, XM_011516262.3:c.841C>G, XM_011516262.2:c.841C>G, XM_011516262.1:c.841C>G, XM_017012238.3:c.841C>G, XM_017012238.2:c.841C>G, XM_017012238.1:c.841C>G, XM_017012239.3:c.823C>G, XM_017012239.2:c.823C>G, XM_017012239.1:c.823C>G, XM_011516268.3:c.610C>G, XM_011516268.2:c.610C>G, XM_011516268.1:c.610C>G, XM_011516267.3:c.898C>G, XM_011516267.2:c.898C>G, XM_011516267.1:c.898C>G, XM_006716012.3:c.898C>G, XM_006716012.2:c.898C>G, XM_006716012.1:c.898C>G, XM_011516269.3:c.898C>G, XM_011516269.2:c.898C>G, XM_011516269.1:c.898C>G, XM_017012246.3:c.898C>G, XM_017012246.2:c.898C>G, XM_017012246.1:c.898C>G, XM_006716014.3:c.898C>G, XM_006716014.2:c.898C>G, XM_006716014.1:c.898C>G, XM_011516270.3:c.898C>G, XM_011516270.2:c.898C>G, XM_011516270.1:c.898C>G, XM_017012248.3:c.898C>G, XM_017012248.2:c.898C>G, XM_017012248.1:c.898C>G, XM_017012247.3:c.841C>G, XM_017012247.2:c.841C>G, XM_017012247.1:c.841C>G, XM_017012251.3:c.898C>G, XM_017012251.2:c.898C>G, XM_017012251.1:c.898C>G, XM_011516255.2:c.898C>G, XM_011516255.1:c.898C>G, XM_011516258.2:c.880C>G, XM_011516258.1:c.880C>G, XM_024446777.2:c.880C>G, XM_024446777.1:c.880C>G, XM_024446778.2:c.880C>G, XM_024446778.1:c.880C>G, XM_024446779.2:c.823C>G, XM_024446779.1:c.823C>G, XM_024446780.2:c.898C>G, XM_024446780.1:c.898C>G, XM_047420417.1:c.880C>G, XM_047420418.1:c.841C>G, XM_047420419.1:c.898C>G, XM_047420420.1:c.841C>G, XM_047420422.1:c.823C>G, XM_047420424.1:c.823C>G, XM_047420421.1:c.841C>G, XM_047420423.1:c.841C>G, XM_047420425.1:c.823C>G, NP_005001.3:p.Pro294Ala, NP_001032209.1:p.Pro300Ala, NP_001180511.1:p.Pro300Ala, NP_001180512.1:p.Pro281Ala, NP_001180513.1:p.Pro281Ala, NP_001358055.1:p.Pro281Ala, NP_001358092.1:p.Pro281Ala, NP_001358060.1:p.Pro300Ala, NP_001358085.1:p.Pro300Ala, NP_001358073.1:p.Pro300Ala, NP_001358098.1:p.Pro300Ala, NP_001358101.1:p.Pro281Ala, NP_001358075.1:p.Pro281Ala, NP_001358062.1:p.Pro294Ala, NP_001358097.1:p.Pro300Ala, NP_001358082.1:p.Pro300Ala, NP_001358057.1:p.Pro300Ala, NP_001358067.1:p.Pro300Ala, NP_001358094.1:p.Pro281Ala, NP_001358068.1:p.Pro281Ala, NP_001358087.1:p.Pro281Ala, NP_001358084.1:p.Pro281Ala, NP_001358048.1:p.Pro281Ala, NP_001358053.1:p.Pro281Ala, NP_001358074.1:p.Pro281Ala, NP_001358096.1:p.Pro281Ala, NP_001358091.1:p.Pro281Ala, NP_001358065.1:p.Pro294Ala, NP_001358061.1:p.Pro281Ala, NP_001358069.1:p.Pro281Ala, NP_001358100.1:p.Pro294Ala, NP_001358072.1:p.Pro185Ala, NP_001358078.1:p.Pro300Ala, NP_001358056.1:p.Pro299Ala, NP_001358059.1:p.Pro294Ala, NP_001358079.1:p.Pro300Ala, NP_001358093.1:p.Pro185Ala, NP_001358102.1:p.Pro300Ala, NP_001358086.1:p.Pro294Ala, NP_001358070.1:p.Pro281Ala, NP_001358090.1:p.Pro300Ala, NP_001358108.1:p.Pro204Ala, NP_001358089.1:p.Pro294Ala, NP_001358064.1:p.Pro281Ala, NP_001358088.1:p.Pro300Ala, NP_001358076.1:p.Pro185Ala, NP_001358103.1:p.Pro300Ala, NP_001358081.1:p.Pro294Ala, NP_001358058.1:p.Pro281Ala, NP_001358063.1:p.Pro293Ala, NP_001358071.1:p.Pro185Ala, NP_001358052.1:p.Pro300Ala, NP_001358110.1:p.Pro281Ala, NP_001358095.1:p.Pro281Ala, NP_001358051.1:p.Pro281Ala, NP_001358111.1:p.Pro275Ala, NP_001358080.1:p.Pro294Ala, NP_001358054.1:p.Pro185Ala, NP_001358083.1:p.Pro281Ala, NP_001358099.1:p.Pro204Ala, NP_001358077.1:p.Pro204Ala, NP_001358106.1:p.Pro281Ala, NP_001358105.1:p.Pro294Ala, NP_001358107.1:p.Pro294Ala, NP_001358104.1:p.Pro294Ala, NP_001358109.1:p.Pro204Ala, XP_011514567.1:p.Pro300Ala, XP_011514555.1:p.Pro300Ala, XP_006716066.1:p.Pro300Ala, XP_011514559.1:p.Pro294Ala, XP_011514561.1:p.Pro300Ala, XP_016867725.1:p.Pro300Ala, XP_011514563.1:p.Pro294Ala, XP_011514564.1:p.Pro281Ala, XP_016867727.1:p.Pro281Ala, XP_016867728.1:p.Pro275Ala, XP_011514570.1:p.Pro204Ala, XP_011514569.1:p.Pro300Ala, XP_006716075.1:p.Pro300Ala, XP_011514571.1:p.Pro300Ala, XP_016867735.1:p.Pro300Ala, XP_006716077.1:p.Pro300Ala, XP_011514572.1:p.Pro300Ala, XP_016867737.1:p.Pro300Ala, XP_016867736.1:p.Pro281Ala, XP_016867740.1:p.Pro300Ala, XP_011514557.1:p.Pro300Ala, XP_011514560.1:p.Pro294Ala, XP_024302545.1:p.Pro294Ala, XP_024302546.1:p.Pro294Ala, XP_024302547.1:p.Pro275Ala, XP_024302548.1:p.Pro300Ala, XP_047276373.1:p.Pro294Ala, XP_047276374.1:p.Pro281Ala, XP_047276375.1:p.Pro300Ala, XP_047276376.1:p.Pro281Ala, XP_047276378.1:p.Pro275Ala, XP_047276380.1:p.Pro275Ala, XP_047276377.1:p.Pro281Ala, XP_047276379.1:p.Pro281Ala, XP_047276381.1:p.Pro275Ala

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