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Items: 1 to 20 of 895

1.

rs1489990887 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    18:62255451 (GRCh38)
    18:59922684 (GRCh37)
    Canonical SPDI:
    NC_000018.10:62255450:C:G
    Gene:
    RELCH (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000018.10:g.62255451C>G, NC_000018.9:g.59922684C>G, NG_051664.1:g.73161C>G, NM_020854.3:c.1869C>G, NM_020854.4:c.1869C>G, NR_144409.1:n.2230C>G, NR_144409.2:n.2266C>G, NR_144406.1:n.2108C>G, NR_144406.2:n.2144C>G, NR_144404.1:n.2084C>G, NR_144404.2:n.2120C>G, NR_144408.1:n.2800C>G, NR_144408.2:n.2836C>G, NR_144403.1:n.2842C>G, NR_144403.2:n.2878C>G, NM_001346235.1:c.132C>G, NM_001346235.2:c.132C>G, NR_144407.1:n.2206C>G, NR_144407.2:n.2242C>G, NR_144412.1:n.2084C>G, NR_144412.2:n.2120C>G, NR_144405.1:n.2206C>G, NR_144405.2:n.2242C>G, NM_001346229.1:c.1869C>G, NM_001346229.2:c.1869C>G, NR_144410.1:n.2084C>G, NR_144410.2:n.2120C>G, NM_001346230.1:c.1893C>G, NM_001346230.2:c.1893C>G, NM_001346231.1:c.1869C>G, NM_001346231.2:c.1869C>G, NM_001346233.1:c.1869C>G, NM_001346233.2:c.1869C>G, NM_001346234.1:c.1869C>G, NM_001346234.2:c.1869C>G, XM_011526117.4:c.132C>G, XM_011526117.3:c.132C>G, XM_011526117.2:c.132C>G, XM_011526117.1:c.132C>G, XR_935239.4:n.2144C>G, XR_935239.3:n.2144C>G, XR_935239.2:n.2155C>G, XR_935239.1:n.2155C>G, XM_011526111.3:c.1893C>G, XM_011526111.2:c.1893C>G, XM_011526111.1:c.1893C>G, XM_011526112.3:c.1893C>G, XM_011526112.2:c.1893C>G, XM_011526112.1:c.1893C>G, XM_047437685.1:c.1893C>G, XM_047437686.1:c.1869C>G, XM_047437694.1:c.132C>G, NR_144411.1:n.2206C>G, XM_047437688.1:c.1869C>G, NM_001346232.1:c.1869C>G, XM_047437692.1:c.1893C>G, XM_047437693.1:c.1869C>G, XM_047437687.1:c.1869C>G, XM_047437691.1:c.1869C>G, XM_047437689.1:c.1893C>G, XM_047437690.1:c.1893C>G

    2.

    rs1488558947 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      18:62228331 (GRCh38)
      18:59895564 (GRCh37)
      Canonical SPDI:
      NC_000018.10:62228330:A:G
      Gene:
      RELCH (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      G=0.000142/2 (TOMMO)
      HGVS:
      NC_000018.10:g.62228331A>G, NC_000018.9:g.59895564A>G, NG_051664.1:g.46041A>G, NM_020854.3:c.1181A>G, NM_020854.4:c.1181A>G, NR_144409.1:n.1396A>G, NR_144409.2:n.1432A>G, NR_144406.1:n.1396A>G, NR_144406.2:n.1432A>G, NR_144404.1:n.1396A>G, NR_144404.2:n.1432A>G, NR_144408.1:n.1396A>G, NR_144408.2:n.1432A>G, NR_144403.1:n.1396A>G, NR_144403.2:n.1432A>G, NM_001346235.1:c.-1193A>G, NM_001346235.2:c.-1193A>G, NR_144407.1:n.1396A>G, NR_144407.2:n.1432A>G, NR_144412.1:n.1396A>G, NR_144412.2:n.1432A>G, NR_144405.1:n.1396A>G, NR_144405.2:n.1432A>G, NM_001346229.1:c.1181A>G, NM_001346229.2:c.1181A>G, NR_144410.1:n.1396A>G, NR_144410.2:n.1432A>G, NM_001346230.1:c.1181A>G, NM_001346230.2:c.1181A>G, NM_001346231.1:c.1181A>G, NM_001346231.2:c.1181A>G, NM_001346233.1:c.1181A>G, NM_001346233.2:c.1181A>G, NM_001346234.1:c.1181A>G, NM_001346234.2:c.1181A>G, XR_935239.4:n.1432A>G, XR_935239.3:n.1432A>G, XR_935239.2:n.1443A>G, XR_935239.1:n.1443A>G, XM_011526111.3:c.1181A>G, XM_011526111.2:c.1181A>G, XM_011526111.1:c.1181A>G, XM_011526112.3:c.1181A>G, XM_011526112.2:c.1181A>G, XM_011526112.1:c.1181A>G, XM_047437685.1:c.1181A>G, XM_047437686.1:c.1181A>G, NR_144411.1:n.1396A>G, XM_047437688.1:c.1181A>G, NM_001346232.1:c.1181A>G, XM_047437692.1:c.1181A>G, XM_047437693.1:c.1181A>G, XM_047437687.1:c.1181A>G, XM_047437691.1:c.1181A>G, XM_047437689.1:c.1181A>G, XM_047437690.1:c.1181A>G, NP_065905.2:p.His394Arg, NP_001333158.1:p.His394Arg, NP_001333159.1:p.His394Arg, NP_001333160.1:p.His394Arg, NP_001333162.1:p.His394Arg, NP_001333163.1:p.His394Arg, XP_011524413.1:p.His394Arg, XP_011524414.1:p.His394Arg, XP_047293641.1:p.His394Arg, XP_047293642.1:p.His394Arg, XP_047293644.1:p.His394Arg, XP_047293648.1:p.His394Arg, XP_047293649.1:p.His394Arg, XP_047293643.1:p.His394Arg, XP_047293647.1:p.His394Arg, XP_047293645.1:p.His394Arg, XP_047293646.1:p.His394Arg

      3.

      rs1488548099 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        18:62227682 (GRCh38)
        18:59894915 (GRCh37)
        Canonical SPDI:
        NC_000018.10:62227681:C:A,NC_000018.10:62227681:C:T
        Gene:
        RELCH (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000018.10:g.62227682C>A, NC_000018.10:g.62227682C>T, NC_000018.9:g.59894915C>A, NC_000018.9:g.59894915C>T, NG_051664.1:g.45392C>A, NG_051664.1:g.45392C>T, NM_020854.3:c.1147C>A, NM_020854.3:c.1147C>T, NM_020854.4:c.1147C>A, NM_020854.4:c.1147C>T, NR_144409.1:n.1362C>A, NR_144409.1:n.1362C>T, NR_144409.2:n.1398C>A, NR_144409.2:n.1398C>T, NR_144406.1:n.1362C>A, NR_144406.1:n.1362C>T, NR_144406.2:n.1398C>A, NR_144406.2:n.1398C>T, NR_144404.1:n.1362C>A, NR_144404.1:n.1362C>T, NR_144404.2:n.1398C>A, NR_144404.2:n.1398C>T, NR_144408.1:n.1362C>A, NR_144408.1:n.1362C>T, NR_144408.2:n.1398C>A, NR_144408.2:n.1398C>T, NR_144403.1:n.1362C>A, NR_144403.1:n.1362C>T, NR_144403.2:n.1398C>A, NR_144403.2:n.1398C>T, NM_001346235.1:c.-1227C>A, NM_001346235.1:c.-1227C>T, NM_001346235.2:c.-1227C>A, NM_001346235.2:c.-1227C>T, NR_144407.1:n.1362C>A, NR_144407.1:n.1362C>T, NR_144407.2:n.1398C>A, NR_144407.2:n.1398C>T, NR_144412.1:n.1362C>A, NR_144412.1:n.1362C>T, NR_144412.2:n.1398C>A, NR_144412.2:n.1398C>T, NR_144405.1:n.1362C>A, NR_144405.1:n.1362C>T, NR_144405.2:n.1398C>A, NR_144405.2:n.1398C>T, NM_001346229.1:c.1147C>A, NM_001346229.1:c.1147C>T, NM_001346229.2:c.1147C>A, NM_001346229.2:c.1147C>T, NR_144410.1:n.1362C>A, NR_144410.1:n.1362C>T, NR_144410.2:n.1398C>A, NR_144410.2:n.1398C>T, NM_001346230.1:c.1147C>A, NM_001346230.1:c.1147C>T, NM_001346230.2:c.1147C>A, NM_001346230.2:c.1147C>T, NM_001346231.1:c.1147C>A, NM_001346231.1:c.1147C>T, NM_001346231.2:c.1147C>A, NM_001346231.2:c.1147C>T, NM_001346233.1:c.1147C>A, NM_001346233.1:c.1147C>T, NM_001346233.2:c.1147C>A, NM_001346233.2:c.1147C>T, NM_001346234.1:c.1147C>A, NM_001346234.1:c.1147C>T, NM_001346234.2:c.1147C>A, NM_001346234.2:c.1147C>T, XR_935239.4:n.1398C>A, XR_935239.4:n.1398C>T, XR_935239.3:n.1398C>A, XR_935239.3:n.1398C>T, XR_935239.2:n.1409C>A, XR_935239.2:n.1409C>T, XR_935239.1:n.1409C>A, XR_935239.1:n.1409C>T, XM_011526111.3:c.1147C>A, XM_011526111.3:c.1147C>T, XM_011526111.2:c.1147C>A, XM_011526111.2:c.1147C>T, XM_011526111.1:c.1147C>A, XM_011526111.1:c.1147C>T, XM_011526112.3:c.1147C>A, XM_011526112.3:c.1147C>T, XM_011526112.2:c.1147C>A, XM_011526112.2:c.1147C>T, XM_011526112.1:c.1147C>A, XM_011526112.1:c.1147C>T, XM_047437685.1:c.1147C>A, XM_047437685.1:c.1147C>T, XM_047437686.1:c.1147C>A, XM_047437686.1:c.1147C>T, NR_144411.1:n.1362C>A, NR_144411.1:n.1362C>T, XM_047437688.1:c.1147C>A, XM_047437688.1:c.1147C>T, NM_001346232.1:c.1147C>A, NM_001346232.1:c.1147C>T, XM_047437692.1:c.1147C>A, XM_047437692.1:c.1147C>T, XM_047437693.1:c.1147C>A, XM_047437693.1:c.1147C>T, XM_047437687.1:c.1147C>A, XM_047437687.1:c.1147C>T, XM_047437691.1:c.1147C>A, XM_047437691.1:c.1147C>T, XM_047437689.1:c.1147C>A, XM_047437689.1:c.1147C>T, XM_047437690.1:c.1147C>A, XM_047437690.1:c.1147C>T, NP_065905.2:p.Leu383Ile, NP_065905.2:p.Leu383Phe, NP_001333158.1:p.Leu383Ile, NP_001333158.1:p.Leu383Phe, NP_001333159.1:p.Leu383Ile, NP_001333159.1:p.Leu383Phe, NP_001333160.1:p.Leu383Ile, NP_001333160.1:p.Leu383Phe, NP_001333162.1:p.Leu383Ile, NP_001333162.1:p.Leu383Phe, NP_001333163.1:p.Leu383Ile, NP_001333163.1:p.Leu383Phe, XP_011524413.1:p.Leu383Ile, XP_011524413.1:p.Leu383Phe, XP_011524414.1:p.Leu383Ile, XP_011524414.1:p.Leu383Phe, XP_047293641.1:p.Leu383Ile, XP_047293641.1:p.Leu383Phe, XP_047293642.1:p.Leu383Ile, XP_047293642.1:p.Leu383Phe, XP_047293644.1:p.Leu383Ile, XP_047293644.1:p.Leu383Phe, XP_047293648.1:p.Leu383Ile, XP_047293648.1:p.Leu383Phe, XP_047293649.1:p.Leu383Ile, XP_047293649.1:p.Leu383Phe, XP_047293643.1:p.Leu383Ile, XP_047293643.1:p.Leu383Phe, XP_047293647.1:p.Leu383Ile, XP_047293647.1:p.Leu383Phe, XP_047293645.1:p.Leu383Ile, XP_047293645.1:p.Leu383Phe, XP_047293646.1:p.Leu383Ile, XP_047293646.1:p.Leu383Phe

        4.

        rs1487210043 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          18:62266745 (GRCh38)
          18:59933978 (GRCh37)
          Canonical SPDI:
          NC_000018.10:62266744:C:T
          Gene:
          RELCH (Varview)
          Functional Consequence:
          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by cluster
          HGVS:
          NC_000018.10:g.62266745C>T, NC_000018.9:g.59933978C>T, NG_051664.1:g.84455C>T, NM_020854.3:c.2676C>T, NM_020854.4:c.2676C>T, NR_144409.1:n.3037C>T, NR_144409.2:n.3073C>T, NR_144406.1:n.2915C>T, NR_144406.2:n.2951C>T, NR_144404.1:n.2891C>T, NR_144404.2:n.2927C>T, NR_144408.1:n.3607C>T, NR_144408.2:n.3643C>T, NR_144403.1:n.3649C>T, NR_144403.2:n.3685C>T, NM_001346235.1:c.939C>T, NM_001346235.2:c.939C>T, NR_144407.1:n.3013C>T, NR_144407.2:n.3049C>T, NR_144412.1:n.2891C>T, NR_144412.2:n.2927C>T, NR_144405.1:n.3013C>T, NR_144405.2:n.3049C>T, NM_001346229.1:c.2676C>T, NM_001346229.2:c.2676C>T, NR_144410.1:n.2891C>T, NR_144410.2:n.2927C>T, NM_001346230.1:c.2700C>T, NM_001346230.2:c.2700C>T, NM_001346231.1:c.2676C>T, NM_001346231.2:c.2676C>T, NM_001346233.1:c.2676C>T, NM_001346233.2:c.2676C>T, NM_001346234.1:c.2676C>T, NM_001346234.2:c.2676C>T, XM_011526117.4:c.939C>T, XM_011526117.3:c.939C>T, XM_011526117.2:c.939C>T, XM_011526117.1:c.939C>T, XR_935239.4:n.2951C>T, XR_935239.3:n.2951C>T, XR_935239.2:n.2962C>T, XR_935239.1:n.2962C>T, XM_011526111.3:c.2700C>T, XM_011526111.2:c.2700C>T, XM_011526111.1:c.2700C>T, XM_011526112.3:c.2700C>T, XM_011526112.2:c.2700C>T, XM_011526112.1:c.2700C>T, XM_047437685.1:c.2700C>T, XM_047437686.1:c.2676C>T, XM_047437694.1:c.939C>T, NR_144411.1:n.3013C>T, XM_047437688.1:c.2676C>T, NM_001346232.1:c.2676C>T, XM_047437692.1:c.2700C>T, XM_047437693.1:c.2676C>T, XM_047437687.1:c.2676C>T, XM_047437691.1:c.2676C>T, XM_047437689.1:c.2700C>T, XM_047437690.1:c.2700C>T

          5.

          rs1486592971 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            18:62244776 (GRCh38)
            18:59912009 (GRCh37)
            Canonical SPDI:
            NC_000018.10:62244775:C:A
            Gene:
            RELCH (Varview)
            Functional Consequence:
            missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000011/3 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            NC_000018.10:g.62244776C>A, NC_000018.9:g.59912009C>A, NG_051664.1:g.62486C>A, NM_020854.3:c.1633C>A, NM_020854.4:c.1633C>A, NR_144409.1:n.1872C>A, NR_144409.2:n.1908C>A, NR_144406.1:n.1872C>A, NR_144406.2:n.1908C>A, NR_144404.1:n.1848C>A, NR_144404.2:n.1884C>A, NR_144408.1:n.2564C>A, NR_144408.2:n.2600C>A, NR_144403.1:n.2484C>A, NR_144403.2:n.2520C>A, NM_001346235.1:c.-105C>A, NM_001346235.2:c.-105C>A, NR_144407.1:n.1848C>A, NR_144407.2:n.1884C>A, NR_144412.1:n.1848C>A, NR_144412.2:n.1884C>A, NR_144405.1:n.1848C>A, NR_144405.2:n.1884C>A, NM_001346229.1:c.1633C>A, NM_001346229.2:c.1633C>A, NR_144410.1:n.1848C>A, NR_144410.2:n.1884C>A, NM_001346230.1:c.1657C>A, NM_001346230.2:c.1657C>A, NM_001346231.1:c.1633C>A, NM_001346231.2:c.1633C>A, NM_001346233.1:c.1633C>A, NM_001346233.2:c.1633C>A, NM_001346234.1:c.1633C>A, NM_001346234.2:c.1633C>A, XM_011526117.4:c.-105C>A, XM_011526117.3:c.-105C>A, XM_011526117.2:c.-105C>A, XM_011526117.1:c.-105C>A, XR_935239.4:n.1908C>A, XR_935239.3:n.1908C>A, XR_935239.2:n.1919C>A, XR_935239.1:n.1919C>A, XM_011526111.3:c.1657C>A, XM_011526111.2:c.1657C>A, XM_011526111.1:c.1657C>A, XM_011526112.3:c.1657C>A, XM_011526112.2:c.1657C>A, XM_011526112.1:c.1657C>A, XM_047437685.1:c.1657C>A, XM_047437686.1:c.1633C>A, XM_047437694.1:c.-105C>A, NR_144411.1:n.1848C>A, XM_047437688.1:c.1633C>A, NM_001346232.1:c.1633C>A, XM_047437692.1:c.1657C>A, XM_047437693.1:c.1633C>A, XM_047437687.1:c.1633C>A, XM_047437691.1:c.1633C>A, XM_047437689.1:c.1657C>A, XM_047437690.1:c.1657C>A, NP_065905.2:p.Leu545Ile, NP_001333158.1:p.Leu545Ile, NP_001333159.1:p.Leu553Ile, NP_001333160.1:p.Leu545Ile, NP_001333162.1:p.Leu545Ile, NP_001333163.1:p.Leu545Ile, XP_011524413.1:p.Leu553Ile, XP_011524414.1:p.Leu553Ile, XP_047293641.1:p.Leu553Ile, XP_047293642.1:p.Leu545Ile, XP_047293644.1:p.Leu545Ile, XP_047293648.1:p.Leu553Ile, XP_047293649.1:p.Leu545Ile, XP_047293643.1:p.Leu545Ile, XP_047293647.1:p.Leu545Ile, XP_047293645.1:p.Leu553Ile, XP_047293646.1:p.Leu553Ile

            6.

            rs1486275185 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              18:62280693 (GRCh38)
              18:59947926 (GRCh37)
              Canonical SPDI:
              NC_000018.10:62280692:C:T
              Gene:
              RELCH (Varview)
              Functional Consequence:
              missense_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              NC_000018.10:g.62280693C>T, NC_000018.9:g.59947926C>T, NG_051664.1:g.98403C>T, NM_020854.3:c.3098C>T, NM_020854.4:c.3098C>T, NR_144409.1:n.3542C>T, NR_144409.2:n.3578C>T, NR_144406.1:n.3337C>T, NR_144406.2:n.3373C>T, NR_144404.1:n.3313C>T, NR_144404.2:n.3349C>T, NR_144408.1:n.4112C>T, NR_144408.2:n.4148C>T, NR_144403.1:n.4071C>T, NR_144403.2:n.4107C>T, NM_001346235.1:c.1361C>T, NM_001346235.2:c.1361C>T, NR_144407.1:n.3518C>T, NR_144407.2:n.3554C>T, NR_144412.1:n.3487C>T, NR_144412.2:n.3523C>T, NR_144405.1:n.3435C>T, NR_144405.2:n.3471C>T, NM_001346229.1:c.3200C>T, NM_001346229.2:c.3200C>T, NR_144410.1:n.3396C>T, NR_144410.2:n.3432C>T, NM_001346230.1:c.3122C>T, NM_001346230.2:c.3122C>T, NM_001346231.1:c.3098C>T, NM_001346231.2:c.3098C>T, NM_001346233.1:c.3086C>T, NM_001346233.2:c.3086C>T, NM_001346234.1:c.3098C>T, NM_001346234.2:c.3098C>T, XM_011526117.4:c.1361C>T, XM_011526117.3:c.1361C>T, XM_011526117.2:c.1361C>T, XM_011526117.1:c.1361C>T, XR_935239.4:n.3373C>T, XR_935239.3:n.3373C>T, XR_935239.2:n.3384C>T, XR_935239.1:n.3384C>T, XM_011526111.3:c.3122C>T, XM_011526111.2:c.3122C>T, XM_011526111.1:c.3122C>T, XM_011526112.3:c.3122C>T, XM_011526112.2:c.3122C>T, XM_011526112.1:c.3122C>T, XM_047437685.1:c.3122C>T, XM_047437686.1:c.3098C>T, XM_047437694.1:c.1361C>T, NR_144411.1:n.3435C>T, XM_047437688.1:c.3098C>T, NM_001346232.1:c.3098C>T, XM_047437687.1:c.3098C>T, XM_047437689.1:c.3039C>T, NP_065905.2:p.Thr1033Ile, NP_001333164.1:p.Thr454Ile, NP_001333158.1:p.Thr1067Ile, NP_001333159.1:p.Thr1041Ile, NP_001333160.1:p.Thr1033Ile, NP_001333162.1:p.Thr1029Ile, NP_001333163.1:p.Thr1033Ile, XP_011524419.1:p.Thr454Ile, XP_011524413.1:p.Thr1041Ile, XP_011524414.1:p.Thr1041Ile, XP_047293641.1:p.Thr1041Ile, XP_047293642.1:p.Thr1033Ile, XP_047293650.1:p.Thr454Ile, XP_047293644.1:p.Thr1033Ile, XP_047293643.1:p.Thr1033Ile

              7.

              rs1485836736 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                18:62257964 (GRCh38)
                18:59925197 (GRCh37)
                Canonical SPDI:
                NC_000018.10:62257963:C:T
                Gene:
                RELCH (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000018.10:g.62257964C>T, NC_000018.9:g.59925197C>T, NG_051664.1:g.75674C>T, NM_020854.3:c.1913C>T, NM_020854.4:c.1913C>T, NR_144409.1:n.2274C>T, NR_144409.2:n.2310C>T, NR_144406.1:n.2152C>T, NR_144406.2:n.2188C>T, NR_144404.1:n.2128C>T, NR_144404.2:n.2164C>T, NR_144408.1:n.2844C>T, NR_144408.2:n.2880C>T, NR_144403.1:n.2886C>T, NR_144403.2:n.2922C>T, NM_001346235.1:c.176C>T, NM_001346235.2:c.176C>T, NR_144407.1:n.2250C>T, NR_144407.2:n.2286C>T, NR_144412.1:n.2128C>T, NR_144412.2:n.2164C>T, NR_144405.1:n.2250C>T, NR_144405.2:n.2286C>T, NM_001346229.1:c.1913C>T, NM_001346229.2:c.1913C>T, NR_144410.1:n.2128C>T, NR_144410.2:n.2164C>T, NM_001346230.1:c.1937C>T, NM_001346230.2:c.1937C>T, NM_001346231.1:c.1913C>T, NM_001346231.2:c.1913C>T, NM_001346233.1:c.1913C>T, NM_001346233.2:c.1913C>T, NM_001346234.1:c.1913C>T, NM_001346234.2:c.1913C>T, XM_011526117.4:c.176C>T, XM_011526117.3:c.176C>T, XM_011526117.2:c.176C>T, XM_011526117.1:c.176C>T, XR_935239.4:n.2188C>T, XR_935239.3:n.2188C>T, XR_935239.2:n.2199C>T, XR_935239.1:n.2199C>T, XM_011526111.3:c.1937C>T, XM_011526111.2:c.1937C>T, XM_011526111.1:c.1937C>T, XM_011526112.3:c.1937C>T, XM_011526112.2:c.1937C>T, XM_011526112.1:c.1937C>T, XM_047437685.1:c.1937C>T, XM_047437686.1:c.1913C>T, XM_047437694.1:c.176C>T, NR_144411.1:n.2250C>T, XM_047437688.1:c.1913C>T, NM_001346232.1:c.1913C>T, XM_047437692.1:c.1937C>T, XM_047437693.1:c.1913C>T, XM_047437687.1:c.1913C>T, XM_047437691.1:c.1913C>T, XM_047437689.1:c.1937C>T, XM_047437690.1:c.1937C>T, NP_065905.2:p.Ser638Phe, NP_001333164.1:p.Ser59Phe, NP_001333158.1:p.Ser638Phe, NP_001333159.1:p.Ser646Phe, NP_001333160.1:p.Ser638Phe, NP_001333162.1:p.Ser638Phe, NP_001333163.1:p.Ser638Phe, XP_011524419.1:p.Ser59Phe, XP_011524413.1:p.Ser646Phe, XP_011524414.1:p.Ser646Phe, XP_047293641.1:p.Ser646Phe, XP_047293642.1:p.Ser638Phe, XP_047293650.1:p.Ser59Phe, XP_047293644.1:p.Ser638Phe, XP_047293648.1:p.Ser646Phe, XP_047293649.1:p.Ser638Phe, XP_047293643.1:p.Ser638Phe, XP_047293647.1:p.Ser638Phe, XP_047293645.1:p.Ser646Phe, XP_047293646.1:p.Ser646Phe

                8.

                rs1485286929 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  18:62305450 (GRCh38)
                  18:59972683 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:62305449:T:C
                  Gene:
                  RELCH (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000043/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  C=0.000106/2 (TOMMO)
                  C=0.000342/1 (KOREAN)
                  HGVS:
                  NC_000018.10:g.62305450T>C, NC_000018.9:g.59972683T>C, NG_051664.1:g.123160T>C, NM_020854.3:c.3567T>C, NM_020854.4:c.3567T>C, NR_144409.1:n.5913T>C, NR_144409.2:n.5949T>C, NR_144406.1:n.5708T>C, NR_144406.2:n.5744T>C, NR_144404.1:n.5684T>C, NR_144404.2:n.5720T>C, NR_144408.1:n.4581T>C, NR_144408.2:n.4617T>C, NR_144403.1:n.4540T>C, NR_144403.2:n.4576T>C, NM_001346235.1:c.1830T>C, NM_001346235.2:c.1830T>C, NR_144407.1:n.3987T>C, NR_144407.2:n.4023T>C, NR_144412.1:n.3956T>C, NR_144412.2:n.3992T>C, NR_144405.1:n.3904T>C, NR_144405.2:n.3940T>C, NM_001346229.1:c.3669T>C, NM_001346229.2:c.3669T>C, NR_144410.1:n.3865T>C, NR_144410.2:n.3901T>C, NM_001346230.1:c.3591T>C, NM_001346230.2:c.3591T>C, NM_001346231.1:c.3567T>C, NM_001346231.2:c.3567T>C, NM_001346233.1:c.3555T>C, NM_001346233.2:c.3555T>C, NM_001346234.1:c.*4T>C, NM_001346234.2:c.*4T>C, XM_011526117.4:c.1830T>C, XM_011526117.3:c.1830T>C, XM_011526117.2:c.1830T>C, XM_011526117.1:c.1830T>C, XM_011526111.3:c.3591T>C, XM_011526111.2:c.3591T>C, XM_011526111.1:c.3591T>C, XM_011526112.3:c.*4T>C, XM_011526112.2:c.*4T>C, XM_011526112.1:c.*4T>C, XM_047437685.1:c.*4T>C, XM_047437686.1:c.*4T>C, XM_047437694.1:c.1830T>C, NR_144411.1:n.3904T>C, NM_001346232.1:c.3567T>C

                  9.

                  rs1483444229 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    18:62188016 (GRCh38)
                    18:59855249 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:62188015:G:A
                    Gene:
                    PIGN (Varview), RELCH (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000018.10:g.62188016G>A, NC_000018.9:g.59855249G>A, NG_033144.1:g.4041C>T, NG_051664.1:g.5726G>A, NM_020854.3:c.511G>A, NM_020854.4:c.511G>A, NR_144409.1:n.726G>A, NR_144409.2:n.762G>A, NR_144406.1:n.726G>A, NR_144406.2:n.762G>A, NR_144404.1:n.726G>A, NR_144404.2:n.762G>A, NR_144408.1:n.726G>A, NR_144408.2:n.762G>A, NR_144403.1:n.726G>A, NR_144403.2:n.762G>A, NM_001346235.1:c.-1863G>A, NM_001346235.2:c.-1863G>A, NR_144407.1:n.726G>A, NR_144407.2:n.762G>A, NR_144412.1:n.726G>A, NR_144412.2:n.762G>A, NR_144405.1:n.726G>A, NR_144405.2:n.762G>A, NM_001346229.1:c.511G>A, NM_001346229.2:c.511G>A, NR_144410.1:n.726G>A, NR_144410.2:n.762G>A, NM_001346230.1:c.511G>A, NM_001346230.2:c.511G>A, NM_001346231.1:c.511G>A, NM_001346231.2:c.511G>A, NM_001346233.1:c.511G>A, NM_001346233.2:c.511G>A, NM_001346234.1:c.511G>A, NM_001346234.2:c.511G>A, XR_935239.4:n.762G>A, XR_935239.3:n.762G>A, XR_935239.2:n.773G>A, XR_935239.1:n.773G>A, XM_011526111.3:c.511G>A, XM_011526111.2:c.511G>A, XM_011526111.1:c.511G>A, XM_011526112.3:c.511G>A, XM_011526112.2:c.511G>A, XM_011526112.1:c.511G>A, XM_047437685.1:c.511G>A, XM_047437686.1:c.511G>A, NR_144411.1:n.726G>A, XM_047437688.1:c.511G>A, NM_001346232.1:c.511G>A, XM_047437692.1:c.511G>A, XM_047437693.1:c.511G>A, XM_047437687.1:c.511G>A, XM_047437691.1:c.511G>A, XM_047437689.1:c.511G>A, XM_047437690.1:c.511G>A, NP_065905.2:p.Gly171Ser, NP_001333158.1:p.Gly171Ser, NP_001333159.1:p.Gly171Ser, NP_001333160.1:p.Gly171Ser, NP_001333162.1:p.Gly171Ser, NP_001333163.1:p.Gly171Ser, XP_011524413.1:p.Gly171Ser, XP_011524414.1:p.Gly171Ser, XP_047293641.1:p.Gly171Ser, XP_047293642.1:p.Gly171Ser, XP_047293644.1:p.Gly171Ser, XP_047293648.1:p.Gly171Ser, XP_047293649.1:p.Gly171Ser, XP_047293643.1:p.Gly171Ser, XP_047293647.1:p.Gly171Ser, XP_047293645.1:p.Gly171Ser, XP_047293646.1:p.Gly171Ser

                    10.

                    rs1481858751 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      18:62228318 (GRCh38)
                      18:59895551 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:62228317:C:G,NC_000018.10:62228317:C:T
                      Gene:
                      RELCH (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000018.10:g.62228318C>G, NC_000018.10:g.62228318C>T, NC_000018.9:g.59895551C>G, NC_000018.9:g.59895551C>T, NG_051664.1:g.46028C>G, NG_051664.1:g.46028C>T, NM_020854.3:c.1168C>G, NM_020854.3:c.1168C>T, NM_020854.4:c.1168C>G, NM_020854.4:c.1168C>T, NR_144409.1:n.1383C>G, NR_144409.1:n.1383C>T, NR_144409.2:n.1419C>G, NR_144409.2:n.1419C>T, NR_144406.1:n.1383C>G, NR_144406.1:n.1383C>T, NR_144406.2:n.1419C>G, NR_144406.2:n.1419C>T, NR_144404.1:n.1383C>G, NR_144404.1:n.1383C>T, NR_144404.2:n.1419C>G, NR_144404.2:n.1419C>T, NR_144408.1:n.1383C>G, NR_144408.1:n.1383C>T, NR_144408.2:n.1419C>G, NR_144408.2:n.1419C>T, NR_144403.1:n.1383C>G, NR_144403.1:n.1383C>T, NR_144403.2:n.1419C>G, NR_144403.2:n.1419C>T, NM_001346235.1:c.-1206C>G, NM_001346235.1:c.-1206C>T, NM_001346235.2:c.-1206C>G, NM_001346235.2:c.-1206C>T, NR_144407.1:n.1383C>G, NR_144407.1:n.1383C>T, NR_144407.2:n.1419C>G, NR_144407.2:n.1419C>T, NR_144412.1:n.1383C>G, NR_144412.1:n.1383C>T, NR_144412.2:n.1419C>G, NR_144412.2:n.1419C>T, NR_144405.1:n.1383C>G, NR_144405.1:n.1383C>T, NR_144405.2:n.1419C>G, NR_144405.2:n.1419C>T, NM_001346229.1:c.1168C>G, NM_001346229.1:c.1168C>T, NM_001346229.2:c.1168C>G, NM_001346229.2:c.1168C>T, NR_144410.1:n.1383C>G, NR_144410.1:n.1383C>T, NR_144410.2:n.1419C>G, NR_144410.2:n.1419C>T, NM_001346230.1:c.1168C>G, NM_001346230.1:c.1168C>T, NM_001346230.2:c.1168C>G, NM_001346230.2:c.1168C>T, NM_001346231.1:c.1168C>G, NM_001346231.1:c.1168C>T, NM_001346231.2:c.1168C>G, NM_001346231.2:c.1168C>T, NM_001346233.1:c.1168C>G, NM_001346233.1:c.1168C>T, NM_001346233.2:c.1168C>G, NM_001346233.2:c.1168C>T, NM_001346234.1:c.1168C>G, NM_001346234.1:c.1168C>T, NM_001346234.2:c.1168C>G, NM_001346234.2:c.1168C>T, XR_935239.4:n.1419C>G, XR_935239.4:n.1419C>T, XR_935239.3:n.1419C>G, XR_935239.3:n.1419C>T, XR_935239.2:n.1430C>G, XR_935239.2:n.1430C>T, XR_935239.1:n.1430C>G, XR_935239.1:n.1430C>T, XM_011526111.3:c.1168C>G, XM_011526111.3:c.1168C>T, XM_011526111.2:c.1168C>G, XM_011526111.2:c.1168C>T, XM_011526111.1:c.1168C>G, XM_011526111.1:c.1168C>T, XM_011526112.3:c.1168C>G, XM_011526112.3:c.1168C>T, XM_011526112.2:c.1168C>G, XM_011526112.2:c.1168C>T, XM_011526112.1:c.1168C>G, XM_011526112.1:c.1168C>T, XM_047437685.1:c.1168C>G, XM_047437685.1:c.1168C>T, XM_047437686.1:c.1168C>G, XM_047437686.1:c.1168C>T, NR_144411.1:n.1383C>G, NR_144411.1:n.1383C>T, XM_047437688.1:c.1168C>G, XM_047437688.1:c.1168C>T, NM_001346232.1:c.1168C>G, NM_001346232.1:c.1168C>T, XM_047437692.1:c.1168C>G, XM_047437692.1:c.1168C>T, XM_047437693.1:c.1168C>G, XM_047437693.1:c.1168C>T, XM_047437687.1:c.1168C>G, XM_047437687.1:c.1168C>T, XM_047437691.1:c.1168C>G, XM_047437691.1:c.1168C>T, XM_047437689.1:c.1168C>G, XM_047437689.1:c.1168C>T, XM_047437690.1:c.1168C>G, XM_047437690.1:c.1168C>T, NP_065905.2:p.Leu390Val, NP_065905.2:p.Leu390Phe, NP_001333158.1:p.Leu390Val, NP_001333158.1:p.Leu390Phe, NP_001333159.1:p.Leu390Val, NP_001333159.1:p.Leu390Phe, NP_001333160.1:p.Leu390Val, NP_001333160.1:p.Leu390Phe, NP_001333162.1:p.Leu390Val, NP_001333162.1:p.Leu390Phe, NP_001333163.1:p.Leu390Val, NP_001333163.1:p.Leu390Phe, XP_011524413.1:p.Leu390Val, XP_011524413.1:p.Leu390Phe, XP_011524414.1:p.Leu390Val, XP_011524414.1:p.Leu390Phe, XP_047293641.1:p.Leu390Val, XP_047293641.1:p.Leu390Phe, XP_047293642.1:p.Leu390Val, XP_047293642.1:p.Leu390Phe, XP_047293644.1:p.Leu390Val, XP_047293644.1:p.Leu390Phe, XP_047293648.1:p.Leu390Val, XP_047293648.1:p.Leu390Phe, XP_047293649.1:p.Leu390Val, XP_047293649.1:p.Leu390Phe, XP_047293643.1:p.Leu390Val, XP_047293643.1:p.Leu390Phe, XP_047293647.1:p.Leu390Val, XP_047293647.1:p.Leu390Phe, XP_047293645.1:p.Leu390Val, XP_047293645.1:p.Leu390Phe, XP_047293646.1:p.Leu390Val, XP_047293646.1:p.Leu390Phe

                      11.

                      rs1480194609 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        18:62282429 (GRCh38)
                        18:59949662 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:62282428:A:G
                        Gene:
                        RELCH (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000018.10:g.62282429A>G, NC_000018.9:g.59949662A>G, NG_051664.1:g.100139A>G, NM_020854.3:c.3238A>G, NM_020854.4:c.3238A>G, NR_144409.1:n.3682A>G, NR_144409.2:n.3718A>G, NR_144406.1:n.3477A>G, NR_144406.2:n.3513A>G, NR_144404.1:n.3453A>G, NR_144404.2:n.3489A>G, NR_144408.1:n.4252A>G, NR_144408.2:n.4288A>G, NR_144403.1:n.4211A>G, NR_144403.2:n.4247A>G, NM_001346235.1:c.1501A>G, NM_001346235.2:c.1501A>G, NR_144407.1:n.3658A>G, NR_144407.2:n.3694A>G, NR_144412.1:n.3627A>G, NR_144412.2:n.3663A>G, NR_144405.1:n.3575A>G, NR_144405.2:n.3611A>G, NM_001346229.1:c.3340A>G, NM_001346229.2:c.3340A>G, NR_144410.1:n.3536A>G, NR_144410.2:n.3572A>G, NM_001346230.1:c.3262A>G, NM_001346230.2:c.3262A>G, NM_001346231.1:c.3238A>G, NM_001346231.2:c.3238A>G, NM_001346233.1:c.3226A>G, NM_001346233.2:c.3226A>G, NM_001346234.1:c.3238A>G, NM_001346234.2:c.3238A>G, XM_011526117.4:c.1501A>G, XM_011526117.3:c.1501A>G, XM_011526117.2:c.1501A>G, XM_011526117.1:c.1501A>G, XR_935239.4:n.3513A>G, XR_935239.3:n.3513A>G, XR_935239.2:n.3524A>G, XR_935239.1:n.3524A>G, XM_011526111.3:c.3262A>G, XM_011526111.2:c.3262A>G, XM_011526111.1:c.3262A>G, XM_011526112.3:c.3262A>G, XM_011526112.2:c.3262A>G, XM_011526112.1:c.3262A>G, XM_047437685.1:c.3262A>G, XM_047437686.1:c.3238A>G, XM_047437694.1:c.1501A>G, NR_144411.1:n.3575A>G, XM_047437688.1:c.3238A>G, NM_001346232.1:c.3238A>G, XM_047437687.1:c.3238A>G, XM_047437689.1:c.*23A>G, NP_065905.2:p.Arg1080Gly, NP_001333164.1:p.Arg501Gly, NP_001333158.1:p.Arg1114Gly, NP_001333159.1:p.Arg1088Gly, NP_001333160.1:p.Arg1080Gly, NP_001333162.1:p.Arg1076Gly, NP_001333163.1:p.Arg1080Gly, XP_011524419.1:p.Arg501Gly, XP_011524413.1:p.Arg1088Gly, XP_011524414.1:p.Arg1088Gly, XP_047293641.1:p.Arg1088Gly, XP_047293642.1:p.Arg1080Gly, XP_047293650.1:p.Arg501Gly, XP_047293644.1:p.Arg1080Gly, XP_047293643.1:p.Arg1080Gly

                        12.

                        rs1480024878 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          18:62187615 (GRCh38)
                          18:59854848 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:62187614:C:T
                          Gene:
                          PIGN (Varview), RELCH (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000018.10:g.62187615C>T, NC_000018.9:g.59854848C>T, NG_033144.1:g.4442G>A, NG_051664.1:g.5325C>T, NM_020854.3:c.110C>T, NM_020854.4:c.110C>T, NR_144409.1:n.325C>T, NR_144409.2:n.361C>T, NR_144406.1:n.325C>T, NR_144406.2:n.361C>T, NR_144404.1:n.325C>T, NR_144404.2:n.361C>T, NR_144408.1:n.325C>T, NR_144408.2:n.361C>T, NR_144403.1:n.325C>T, NR_144403.2:n.361C>T, NM_001346235.1:c.-2264C>T, NM_001346235.2:c.-2264C>T, NR_144407.1:n.325C>T, NR_144407.2:n.361C>T, NR_144412.1:n.325C>T, NR_144412.2:n.361C>T, NR_144405.1:n.325C>T, NR_144405.2:n.361C>T, NM_001346229.1:c.110C>T, NM_001346229.2:c.110C>T, NR_144410.1:n.325C>T, NR_144410.2:n.361C>T, NM_001346230.1:c.110C>T, NM_001346230.2:c.110C>T, NM_001346231.1:c.110C>T, NM_001346231.2:c.110C>T, NM_001346233.1:c.110C>T, NM_001346233.2:c.110C>T, NM_001346234.1:c.110C>T, NM_001346234.2:c.110C>T, XR_935239.4:n.361C>T, XR_935239.3:n.361C>T, XR_935239.2:n.372C>T, XR_935239.1:n.372C>T, XM_011526111.3:c.110C>T, XM_011526111.2:c.110C>T, XM_011526111.1:c.110C>T, XM_011526112.3:c.110C>T, XM_011526112.2:c.110C>T, XM_011526112.1:c.110C>T, XM_047437685.1:c.110C>T, XM_047437686.1:c.110C>T, NR_144411.1:n.325C>T, XM_047437688.1:c.110C>T, NM_001346232.1:c.110C>T, XM_047437692.1:c.110C>T, XM_047437693.1:c.110C>T, XM_047437687.1:c.110C>T, XM_047437691.1:c.110C>T, XM_047437689.1:c.110C>T, XM_047437690.1:c.110C>T, NP_065905.2:p.Ala37Val, NP_001333158.1:p.Ala37Val, NP_001333159.1:p.Ala37Val, NP_001333160.1:p.Ala37Val, NP_001333162.1:p.Ala37Val, NP_001333163.1:p.Ala37Val, XP_011524413.1:p.Ala37Val, XP_011524414.1:p.Ala37Val, XP_047293641.1:p.Ala37Val, XP_047293642.1:p.Ala37Val, XP_047293644.1:p.Ala37Val, XP_047293648.1:p.Ala37Val, XP_047293649.1:p.Ala37Val, XP_047293643.1:p.Ala37Val, XP_047293647.1:p.Ala37Val, XP_047293645.1:p.Ala37Val, XP_047293646.1:p.Ala37Val

                          13.

                          rs1479927344 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            18:62261582 (GRCh38)
                            18:59928815 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:62261581:T:C,NC_000018.10:62261581:T:G
                            Gene:
                            RELCH (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000018.10:g.62261582T>C, NC_000018.10:g.62261582T>G, NC_000018.9:g.59928815T>C, NC_000018.9:g.59928815T>G, NG_051664.1:g.79292T>C, NG_051664.1:g.79292T>G, NM_020854.3:c.2274T>C, NM_020854.3:c.2274T>G, NM_020854.4:c.2274T>C, NM_020854.4:c.2274T>G, NR_144409.1:n.2635T>C, NR_144409.1:n.2635T>G, NR_144409.2:n.2671T>C, NR_144409.2:n.2671T>G, NR_144406.1:n.2513T>C, NR_144406.1:n.2513T>G, NR_144406.2:n.2549T>C, NR_144406.2:n.2549T>G, NR_144404.1:n.2489T>C, NR_144404.1:n.2489T>G, NR_144404.2:n.2525T>C, NR_144404.2:n.2525T>G, NR_144408.1:n.3205T>C, NR_144408.1:n.3205T>G, NR_144408.2:n.3241T>C, NR_144408.2:n.3241T>G, NR_144403.1:n.3247T>C, NR_144403.1:n.3247T>G, NR_144403.2:n.3283T>C, NR_144403.2:n.3283T>G, NM_001346235.1:c.537T>C, NM_001346235.1:c.537T>G, NM_001346235.2:c.537T>C, NM_001346235.2:c.537T>G, NR_144407.1:n.2611T>C, NR_144407.1:n.2611T>G, NR_144407.2:n.2647T>C, NR_144407.2:n.2647T>G, NR_144412.1:n.2489T>C, NR_144412.1:n.2489T>G, NR_144412.2:n.2525T>C, NR_144412.2:n.2525T>G, NR_144405.1:n.2611T>C, NR_144405.1:n.2611T>G, NR_144405.2:n.2647T>C, NR_144405.2:n.2647T>G, NM_001346229.1:c.2274T>C, NM_001346229.1:c.2274T>G, NM_001346229.2:c.2274T>C, NM_001346229.2:c.2274T>G, NR_144410.1:n.2489T>C, NR_144410.1:n.2489T>G, NR_144410.2:n.2525T>C, NR_144410.2:n.2525T>G, NM_001346230.1:c.2298T>C, NM_001346230.1:c.2298T>G, NM_001346230.2:c.2298T>C, NM_001346230.2:c.2298T>G, NM_001346231.1:c.2274T>C, NM_001346231.1:c.2274T>G, NM_001346231.2:c.2274T>C, NM_001346231.2:c.2274T>G, NM_001346233.1:c.2274T>C, NM_001346233.1:c.2274T>G, NM_001346233.2:c.2274T>C, NM_001346233.2:c.2274T>G, NM_001346234.1:c.2274T>C, NM_001346234.1:c.2274T>G, NM_001346234.2:c.2274T>C, NM_001346234.2:c.2274T>G, XM_011526117.4:c.537T>C, XM_011526117.4:c.537T>G, XM_011526117.3:c.537T>C, XM_011526117.3:c.537T>G, XM_011526117.2:c.537T>C, XM_011526117.2:c.537T>G, XM_011526117.1:c.537T>C, XM_011526117.1:c.537T>G, XR_935239.4:n.2549T>C, XR_935239.4:n.2549T>G, XR_935239.3:n.2549T>C, XR_935239.3:n.2549T>G, XR_935239.2:n.2560T>C, XR_935239.2:n.2560T>G, XR_935239.1:n.2560T>C, XR_935239.1:n.2560T>G, XM_011526111.3:c.2298T>C, XM_011526111.3:c.2298T>G, XM_011526111.2:c.2298T>C, XM_011526111.2:c.2298T>G, XM_011526111.1:c.2298T>C, XM_011526111.1:c.2298T>G, XM_011526112.3:c.2298T>C, XM_011526112.3:c.2298T>G, XM_011526112.2:c.2298T>C, XM_011526112.2:c.2298T>G, XM_011526112.1:c.2298T>C, XM_011526112.1:c.2298T>G, XM_047437685.1:c.2298T>C, XM_047437685.1:c.2298T>G, XM_047437686.1:c.2274T>C, XM_047437686.1:c.2274T>G, XM_047437694.1:c.537T>C, XM_047437694.1:c.537T>G, NR_144411.1:n.2611T>C, NR_144411.1:n.2611T>G, XM_047437688.1:c.2274T>C, XM_047437688.1:c.2274T>G, NM_001346232.1:c.2274T>C, NM_001346232.1:c.2274T>G, XM_047437692.1:c.2298T>C, XM_047437692.1:c.2298T>G, XM_047437693.1:c.2274T>C, XM_047437693.1:c.2274T>G, XM_047437687.1:c.2274T>C, XM_047437687.1:c.2274T>G, XM_047437691.1:c.2274T>C, XM_047437691.1:c.2274T>G, XM_047437689.1:c.2298T>C, XM_047437689.1:c.2298T>G, XM_047437690.1:c.2298T>C, XM_047437690.1:c.2298T>G

                            14.

                            rs1479148916 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AG>- [Show Flanks]
                              Chromosome:
                              18:62221410 (GRCh38)
                              18:59888643 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:62221405:AGAGAG:AGAG
                              Gene:
                              RELCH (Varview)
                              Functional Consequence:
                              frameshift_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000018.10:g.62221406AG[2], NC_000018.9:g.59888639AG[2], NG_051664.1:g.39116AG[2], NM_020854.3:c.771_772del, NM_020854.4:c.771_772del, NR_144409.1:n.982AG[2], NR_144409.2:n.1018AG[2], NR_144406.1:n.982AG[2], NR_144406.2:n.1018AG[2], NR_144404.1:n.982AG[2], NR_144404.2:n.1018AG[2], NR_144408.1:n.982AG[2], NR_144408.2:n.1018AG[2], NR_144403.1:n.982AG[2], NR_144403.2:n.1018AG[2], NM_001346235.1:c.-1607AG[2], NM_001346235.2:c.-1607AG[2], NR_144407.1:n.982AG[2], NR_144407.2:n.1018AG[2], NR_144412.1:n.982AG[2], NR_144412.2:n.1018AG[2], NR_144405.1:n.982AG[2], NR_144405.2:n.1018AG[2], NM_001346229.1:c.771_772del, NM_001346229.2:c.771_772del, NR_144410.1:n.982AG[2], NR_144410.2:n.1018AG[2], NM_001346230.1:c.771_772del, NM_001346230.2:c.771_772del, NM_001346231.1:c.771_772del, NM_001346231.2:c.771_772del, NM_001346233.1:c.771_772del, NM_001346233.2:c.771_772del, NM_001346234.1:c.771_772del, NM_001346234.2:c.771_772del, XR_935239.4:n.1018AG[2], XR_935239.3:n.1018AG[2], XR_935239.2:n.1029AG[2], XR_935239.1:n.1029AG[2], XM_011526111.3:c.771_772del, XM_011526111.2:c.771_772del, XM_011526111.1:c.771_772del, XM_011526112.3:c.771_772del, XM_011526112.2:c.771_772del, XM_011526112.1:c.771_772del, XM_047437685.1:c.771_772del, XM_047437686.1:c.771_772del, NR_144411.1:n.982AG[2], XM_047437688.1:c.771_772del, NM_001346232.1:c.771_772del, XM_047437692.1:c.771_772del, XM_047437693.1:c.771_772del, XM_047437687.1:c.771_772del, XM_047437691.1:c.771_772del, XM_047437689.1:c.771_772del, XM_047437690.1:c.771_772del, NP_065905.2:p.Arg257fs, NP_001333158.1:p.Arg257fs, NP_001333159.1:p.Arg257fs, NP_001333160.1:p.Arg257fs, NP_001333162.1:p.Arg257fs, NP_001333163.1:p.Arg257fs, XP_011524413.1:p.Arg257fs, XP_011524414.1:p.Arg257fs, XP_047293641.1:p.Arg257fs, XP_047293642.1:p.Arg257fs, XP_047293644.1:p.Arg257fs, XP_047293648.1:p.Arg257fs, XP_047293649.1:p.Arg257fs, XP_047293643.1:p.Arg257fs, XP_047293647.1:p.Arg257fs, XP_047293645.1:p.Arg257fs, XP_047293646.1:p.Arg257fs

                              15.

                              rs1478001205 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                18:62231208 (GRCh38)
                                18:59898441 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:62231207:C:G
                                Gene:
                                RELCH (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000018.10:g.62231208C>G, NC_000018.9:g.59898441C>G, NG_051664.1:g.48918C>G, NM_020854.3:c.1463C>G, NM_020854.4:c.1463C>G, NR_144409.1:n.1678C>G, NR_144409.2:n.1714C>G, NR_144406.1:n.1678C>G, NR_144406.2:n.1714C>G, NR_144404.1:n.1678C>G, NR_144404.2:n.1714C>G, NR_144408.1:n.1678C>G, NR_144408.2:n.1714C>G, NR_144403.1:n.1678C>G, NR_144403.2:n.1714C>G, NM_001346235.1:c.-911C>G, NM_001346235.2:c.-911C>G, NR_144407.1:n.1678C>G, NR_144407.2:n.1714C>G, NR_144412.1:n.1678C>G, NR_144412.2:n.1714C>G, NR_144405.1:n.1678C>G, NR_144405.2:n.1714C>G, NM_001346229.1:c.1463C>G, NM_001346229.2:c.1463C>G, NR_144410.1:n.1678C>G, NR_144410.2:n.1714C>G, NM_001346230.1:c.1463C>G, NM_001346230.2:c.1463C>G, NM_001346231.1:c.1463C>G, NM_001346231.2:c.1463C>G, NM_001346233.1:c.1463C>G, NM_001346233.2:c.1463C>G, NM_001346234.1:c.1463C>G, NM_001346234.2:c.1463C>G, XR_935239.4:n.1714C>G, XR_935239.3:n.1714C>G, XR_935239.2:n.1725C>G, XR_935239.1:n.1725C>G, XM_011526111.3:c.1463C>G, XM_011526111.2:c.1463C>G, XM_011526111.1:c.1463C>G, XM_011526112.3:c.1463C>G, XM_011526112.2:c.1463C>G, XM_011526112.1:c.1463C>G, XM_047437685.1:c.1463C>G, XM_047437686.1:c.1463C>G, NR_144411.1:n.1678C>G, XM_047437688.1:c.1463C>G, NM_001346232.1:c.1463C>G, XM_047437692.1:c.1463C>G, XM_047437693.1:c.1463C>G, XM_047437687.1:c.1463C>G, XM_047437691.1:c.1463C>G, XM_047437689.1:c.1463C>G, XM_047437690.1:c.1463C>G, NP_065905.2:p.Ala488Gly, NP_001333158.1:p.Ala488Gly, NP_001333159.1:p.Ala488Gly, NP_001333160.1:p.Ala488Gly, NP_001333162.1:p.Ala488Gly, NP_001333163.1:p.Ala488Gly, XP_011524413.1:p.Ala488Gly, XP_011524414.1:p.Ala488Gly, XP_047293641.1:p.Ala488Gly, XP_047293642.1:p.Ala488Gly, XP_047293644.1:p.Ala488Gly, XP_047293648.1:p.Ala488Gly, XP_047293649.1:p.Ala488Gly, XP_047293643.1:p.Ala488Gly, XP_047293647.1:p.Ala488Gly, XP_047293645.1:p.Ala488Gly, XP_047293646.1:p.Ala488Gly

                                16.

                                rs1477447755 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  18:62274036 (GRCh38)
                                  18:59941269 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:62274035:A:G
                                  Gene:
                                  RELCH (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000018.10:g.62274036A>G, NC_000018.9:g.59941269A>G, NG_051664.1:g.91746A>G, NM_020854.3:c.2817A>G, NM_020854.4:c.2817A>G, NR_144409.1:n.3178A>G, NR_144409.2:n.3214A>G, NR_144406.1:n.3056A>G, NR_144406.2:n.3092A>G, NR_144404.1:n.3032A>G, NR_144404.2:n.3068A>G, NR_144408.1:n.3748A>G, NR_144408.2:n.3784A>G, NR_144403.1:n.3790A>G, NR_144403.2:n.3826A>G, NM_001346235.1:c.1080A>G, NM_001346235.2:c.1080A>G, NR_144407.1:n.3154A>G, NR_144407.2:n.3190A>G, NR_144412.1:n.3134A>G, NR_144412.2:n.3170A>G, NR_144405.1:n.3154A>G, NR_144405.2:n.3190A>G, NM_001346229.1:c.2919A>G, NM_001346229.2:c.2919A>G, NR_144410.1:n.3032A>G, NR_144410.2:n.3068A>G, NM_001346230.1:c.2841A>G, NM_001346230.2:c.2841A>G, NM_001346231.1:c.2817A>G, NM_001346231.2:c.2817A>G, NM_001346233.1:c.2805A>G, NM_001346233.2:c.2805A>G, NM_001346234.1:c.2817A>G, NM_001346234.2:c.2817A>G, XM_011526117.4:c.1080A>G, XM_011526117.3:c.1080A>G, XM_011526117.2:c.1080A>G, XM_011526117.1:c.1080A>G, XR_935239.4:n.3092A>G, XR_935239.3:n.3092A>G, XR_935239.2:n.3103A>G, XR_935239.1:n.3103A>G, XM_011526111.3:c.2841A>G, XM_011526111.2:c.2841A>G, XM_011526111.1:c.2841A>G, XM_011526112.3:c.2841A>G, XM_011526112.2:c.2841A>G, XM_011526112.1:c.2841A>G, XM_047437685.1:c.2841A>G, XM_047437686.1:c.2817A>G, XM_047437694.1:c.1080A>G, NR_144411.1:n.3154A>G, XM_047437688.1:c.2817A>G, NM_001346232.1:c.2817A>G, XM_047437692.1:c.2841A>G, XM_047437693.1:c.2817A>G, XM_047437687.1:c.2817A>G, XM_047437691.1:c.2817A>G, XM_047437689.1:c.2841A>G, XM_047437690.1:c.2841A>G

                                  17.

                                  rs1477180516 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    18:62228597 (GRCh38)
                                    18:59895830 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:62228596:A:T
                                    Gene:
                                    RELCH (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.62228597A>T, NC_000018.9:g.59895830A>T, NG_051664.1:g.46307A>T, NM_020854.3:c.1447A>T, NM_020854.4:c.1447A>T, NR_144409.1:n.1662A>T, NR_144409.2:n.1698A>T, NR_144406.1:n.1662A>T, NR_144406.2:n.1698A>T, NR_144404.1:n.1662A>T, NR_144404.2:n.1698A>T, NR_144408.1:n.1662A>T, NR_144408.2:n.1698A>T, NR_144403.1:n.1662A>T, NR_144403.2:n.1698A>T, NM_001346235.1:c.-927A>T, NM_001346235.2:c.-927A>T, NR_144407.1:n.1662A>T, NR_144407.2:n.1698A>T, NR_144412.1:n.1662A>T, NR_144412.2:n.1698A>T, NR_144405.1:n.1662A>T, NR_144405.2:n.1698A>T, NM_001346229.1:c.1447A>T, NM_001346229.2:c.1447A>T, NR_144410.1:n.1662A>T, NR_144410.2:n.1698A>T, NM_001346230.1:c.1447A>T, NM_001346230.2:c.1447A>T, NM_001346231.1:c.1447A>T, NM_001346231.2:c.1447A>T, NM_001346233.1:c.1447A>T, NM_001346233.2:c.1447A>T, NM_001346234.1:c.1447A>T, NM_001346234.2:c.1447A>T, XR_935239.4:n.1698A>T, XR_935239.3:n.1698A>T, XR_935239.2:n.1709A>T, XR_935239.1:n.1709A>T, XM_011526111.3:c.1447A>T, XM_011526111.2:c.1447A>T, XM_011526111.1:c.1447A>T, XM_011526112.3:c.1447A>T, XM_011526112.2:c.1447A>T, XM_011526112.1:c.1447A>T, XM_047437685.1:c.1447A>T, XM_047437686.1:c.1447A>T, NR_144411.1:n.1662A>T, XM_047437688.1:c.1447A>T, NM_001346232.1:c.1447A>T, XM_047437692.1:c.1447A>T, XM_047437693.1:c.1447A>T, XM_047437687.1:c.1447A>T, XM_047437691.1:c.1447A>T, XM_047437689.1:c.1447A>T, XM_047437690.1:c.1447A>T, NP_065905.2:p.Arg483Trp, NP_001333158.1:p.Arg483Trp, NP_001333159.1:p.Arg483Trp, NP_001333160.1:p.Arg483Trp, NP_001333162.1:p.Arg483Trp, NP_001333163.1:p.Arg483Trp, XP_011524413.1:p.Arg483Trp, XP_011524414.1:p.Arg483Trp, XP_047293641.1:p.Arg483Trp, XP_047293642.1:p.Arg483Trp, XP_047293644.1:p.Arg483Trp, XP_047293648.1:p.Arg483Trp, XP_047293649.1:p.Arg483Trp, XP_047293643.1:p.Arg483Trp, XP_047293647.1:p.Arg483Trp, XP_047293645.1:p.Arg483Trp, XP_047293646.1:p.Arg483Trp

                                    18.

                                    rs1476687462 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      18:62187614 (GRCh38)
                                      18:59854847 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:62187613:G:A
                                      Gene:
                                      PIGN (Varview), RELCH (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000018.10:g.62187614G>A, NC_000018.9:g.59854847G>A, NG_033144.1:g.4443C>T, NG_051664.1:g.5324G>A, NM_020854.3:c.109G>A, NM_020854.4:c.109G>A, NR_144409.1:n.324G>A, NR_144409.2:n.360G>A, NR_144406.1:n.324G>A, NR_144406.2:n.360G>A, NR_144404.1:n.324G>A, NR_144404.2:n.360G>A, NR_144408.1:n.324G>A, NR_144408.2:n.360G>A, NR_144403.1:n.324G>A, NR_144403.2:n.360G>A, NM_001346235.1:c.-2265G>A, NM_001346235.2:c.-2265G>A, NR_144407.1:n.324G>A, NR_144407.2:n.360G>A, NR_144412.1:n.324G>A, NR_144412.2:n.360G>A, NR_144405.1:n.324G>A, NR_144405.2:n.360G>A, NM_001346229.1:c.109G>A, NM_001346229.2:c.109G>A, NR_144410.1:n.324G>A, NR_144410.2:n.360G>A, NM_001346230.1:c.109G>A, NM_001346230.2:c.109G>A, NM_001346231.1:c.109G>A, NM_001346231.2:c.109G>A, NM_001346233.1:c.109G>A, NM_001346233.2:c.109G>A, NM_001346234.1:c.109G>A, NM_001346234.2:c.109G>A, XR_935239.4:n.360G>A, XR_935239.3:n.360G>A, XR_935239.2:n.371G>A, XR_935239.1:n.371G>A, XM_011526111.3:c.109G>A, XM_011526111.2:c.109G>A, XM_011526111.1:c.109G>A, XM_011526112.3:c.109G>A, XM_011526112.2:c.109G>A, XM_011526112.1:c.109G>A, XM_047437685.1:c.109G>A, XM_047437686.1:c.109G>A, NR_144411.1:n.324G>A, XM_047437688.1:c.109G>A, NM_001346232.1:c.109G>A, XM_047437692.1:c.109G>A, XM_047437693.1:c.109G>A, XM_047437687.1:c.109G>A, XM_047437691.1:c.109G>A, XM_047437689.1:c.109G>A, XM_047437690.1:c.109G>A, NP_065905.2:p.Ala37Thr, NP_001333158.1:p.Ala37Thr, NP_001333159.1:p.Ala37Thr, NP_001333160.1:p.Ala37Thr, NP_001333162.1:p.Ala37Thr, NP_001333163.1:p.Ala37Thr, XP_011524413.1:p.Ala37Thr, XP_011524414.1:p.Ala37Thr, XP_047293641.1:p.Ala37Thr, XP_047293642.1:p.Ala37Thr, XP_047293644.1:p.Ala37Thr, XP_047293648.1:p.Ala37Thr, XP_047293649.1:p.Ala37Thr, XP_047293643.1:p.Ala37Thr, XP_047293647.1:p.Ala37Thr, XP_047293645.1:p.Ala37Thr, XP_047293646.1:p.Ala37Thr

                                      19.

                                      rs1476242607 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        18:62287356 (GRCh38)
                                        18:59954589 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:62287355:A:G
                                        Gene:
                                        RELCH (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        HGVS:
                                        NC_000018.10:g.62287356A>G, NC_000018.9:g.59954589A>G, NG_051664.1:g.105066A>G, NM_020854.3:c.3259A>G, NM_020854.4:c.3259A>G, NR_144409.1:n.5605A>G, NR_144409.2:n.5641A>G, NR_144406.1:n.5400A>G, NR_144406.2:n.5436A>G, NR_144404.1:n.5376A>G, NR_144404.2:n.5412A>G, NR_144408.1:n.4273A>G, NR_144408.2:n.4309A>G, NR_144403.1:n.4232A>G, NR_144403.2:n.4268A>G, NM_001346235.1:c.1522A>G, NM_001346235.2:c.1522A>G, NR_144407.1:n.3679A>G, NR_144407.2:n.3715A>G, NR_144412.1:n.3648A>G, NR_144412.2:n.3684A>G, NR_144405.1:n.3596A>G, NR_144405.2:n.3632A>G, NM_001346229.1:c.3361A>G, NM_001346229.2:c.3361A>G, NR_144410.1:n.3557A>G, NR_144410.2:n.3593A>G, NM_001346230.1:c.3283A>G, NM_001346230.2:c.3283A>G, NM_001346231.1:c.3259A>G, NM_001346231.2:c.3259A>G, NM_001346233.1:c.3247A>G, NM_001346233.2:c.3247A>G, NM_001346234.1:c.3259A>G, NM_001346234.2:c.3259A>G, XM_011526117.4:c.1522A>G, XM_011526117.3:c.1522A>G, XM_011526117.2:c.1522A>G, XM_011526117.1:c.1522A>G, XR_935239.4:n.3657A>G, XR_935239.3:n.3657A>G, XR_935239.2:n.3668A>G, XR_935239.1:n.3668A>G, XM_011526111.3:c.3283A>G, XM_011526111.2:c.3283A>G, XM_011526111.1:c.3283A>G, XM_011526112.3:c.3283A>G, XM_011526112.2:c.3283A>G, XM_011526112.1:c.3283A>G, XM_047437685.1:c.3283A>G, XM_047437686.1:c.3259A>G, XM_047437694.1:c.1522A>G, NR_144411.1:n.3596A>G, XM_047437688.1:c.*1897A>G, NM_001346232.1:c.3259A>G, NP_065905.2:p.Ile1087Val, NP_001333164.1:p.Ile508Val, NP_001333158.1:p.Ile1121Val, NP_001333159.1:p.Ile1095Val, NP_001333160.1:p.Ile1087Val, NP_001333162.1:p.Ile1083Val, NP_001333163.1:p.Ile1087Val, XP_011524419.1:p.Ile508Val, XP_011524413.1:p.Ile1095Val, XP_011524414.1:p.Ile1095Val, XP_047293641.1:p.Ile1095Val, XP_047293642.1:p.Ile1087Val, XP_047293650.1:p.Ile508Val

                                        20.

                                        rs1475947905 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CCAGCTTACGCTGCGTGGACTACAG>- [Show Flanks]
                                          Chromosome:
                                          18:62258587 (GRCh38)
                                          18:59925820 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:62258586:CCAGCTTACGCTGCGTGGACTACAG:
                                          Gene:
                                          RELCH (Varview)
                                          Functional Consequence:
                                          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000018.10:g.62258587_62258611del, NC_000018.9:g.59925820_59925844del, NG_051664.1:g.76297_76321del, NM_020854.3:c.2113_2137del, NM_020854.4:c.2113_2137del, NR_144409.1:n.2474_2498del, NR_144409.2:n.2510_2534del, NR_144406.1:n.2352_2376del, NR_144406.2:n.2388_2412del, NR_144404.1:n.2328_2352del, NR_144404.2:n.2364_2388del, NR_144408.1:n.3044_3068del, NR_144408.2:n.3080_3104del, NR_144403.1:n.3086_3110del, NR_144403.2:n.3122_3146del, NM_001346235.1:c.376_400del, NM_001346235.2:c.376_400del, NR_144407.1:n.2450_2474del, NR_144407.2:n.2486_2510del, NR_144412.1:n.2328_2352del, NR_144412.2:n.2364_2388del, NR_144405.1:n.2450_2474del, NR_144405.2:n.2486_2510del, NM_001346229.1:c.2113_2137del, NM_001346229.2:c.2113_2137del, NR_144410.1:n.2328_2352del, NR_144410.2:n.2364_2388del, NM_001346230.1:c.2137_2161del, NM_001346230.2:c.2137_2161del, NM_001346231.1:c.2113_2137del, NM_001346231.2:c.2113_2137del, NM_001346233.1:c.2113_2137del, NM_001346233.2:c.2113_2137del, NM_001346234.1:c.2113_2137del, NM_001346234.2:c.2113_2137del, XM_011526117.4:c.376_400del, XM_011526117.3:c.376_400del, XM_011526117.2:c.376_400del, XM_011526117.1:c.376_400del, XR_935239.4:n.2388_2412del, XR_935239.3:n.2388_2412del, XR_935239.2:n.2399_2423del, XR_935239.1:n.2399_2423del, XM_011526111.3:c.2137_2161del, XM_011526111.2:c.2137_2161del, XM_011526111.1:c.2137_2161del, XM_011526112.3:c.2137_2161del, XM_011526112.2:c.2137_2161del, XM_011526112.1:c.2137_2161del, XM_047437685.1:c.2137_2161del, XM_047437686.1:c.2113_2137del, XM_047437694.1:c.376_400del, NR_144411.1:n.2450_2474del, XM_047437688.1:c.2113_2137del, NM_001346232.1:c.2113_2137del, XM_047437692.1:c.2137_2161del, XM_047437693.1:c.2113_2137del, XM_047437687.1:c.2113_2137del, XM_047437691.1:c.2113_2137del, XM_047437689.1:c.2137_2161del, XM_047437690.1:c.2137_2161del, NP_065905.2:p.Pro705fs, NP_001333164.1:p.Pro126fs, NP_001333158.1:p.Pro705fs, NP_001333159.1:p.Pro713fs, NP_001333160.1:p.Pro705fs, NP_001333162.1:p.Pro705fs, NP_001333163.1:p.Pro705fs, XP_011524419.1:p.Pro126fs, XP_011524413.1:p.Pro713fs, XP_011524414.1:p.Pro713fs, XP_047293641.1:p.Pro713fs, XP_047293642.1:p.Pro705fs, XP_047293650.1:p.Pro126fs, XP_047293644.1:p.Pro705fs, XP_047293648.1:p.Pro713fs, XP_047293649.1:p.Pro705fs, XP_047293643.1:p.Pro705fs, XP_047293647.1:p.Pro705fs, XP_047293645.1:p.Pro713fs, XP_047293646.1:p.Pro713fs

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