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Items: 1 to 20 of 346

1.

rs1488525163 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    8:86486494 (GRCh38)
    8:87498723 (GRCh37)
    Canonical SPDI:
    NC_000008.11:86486493:G:A,NC_000008.11:86486493:G:T
    Gene:
    RMDN1 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.0001/1 (ALFA)
    HGVS:
    NC_000008.11:g.86486494G>A, NC_000008.11:g.86486494G>T, NC_000008.10:g.87498723G>A, NC_000008.10:g.87498723G>T, XM_011517090.4:c.527C>T, XM_011517090.4:c.527C>A, XM_011517090.3:c.527C>T, XM_011517090.3:c.527C>A, XM_011517090.2:c.527C>T, XM_011517090.2:c.527C>A, XM_011517090.1:c.527C>T, XM_011517090.1:c.527C>A, XM_005250944.4:c.485C>T, XM_005250944.4:c.485C>A, XM_005250944.3:c.485C>T, XM_005250944.3:c.485C>A, XM_005250944.2:c.485C>T, XM_005250944.2:c.485C>A, XM_005250944.1:c.485C>T, XM_005250944.1:c.485C>A, XM_005250948.4:c.353C>T, XM_005250948.4:c.353C>A, XM_005250948.3:c.353C>T, XM_005250948.3:c.353C>A, XM_005250948.2:c.353C>T, XM_005250948.2:c.353C>A, XM_005250948.1:c.353C>T, XM_005250948.1:c.353C>A, XM_005250947.4:c.485C>T, XM_005250947.4:c.485C>A, XM_005250947.3:c.485C>T, XM_005250947.3:c.485C>A, XM_005250947.2:c.485C>T, XM_005250947.2:c.485C>A, XM_005250947.1:c.485C>T, XM_005250947.1:c.485C>A, XM_011517093.3:c.527C>T, XM_011517093.3:c.527C>A, XM_011517093.2:c.527C>T, XM_011517093.2:c.527C>A, XM_011517093.1:c.527C>T, XM_011517093.1:c.527C>A, XM_011517096.3:c.527C>T, XM_011517096.3:c.527C>A, XM_011517096.2:c.527C>T, XM_011517096.2:c.527C>A, XM_011517096.1:c.527C>T, XM_011517096.1:c.527C>A, NM_016033.3:c.485C>T, NM_016033.3:c.485C>A, NM_016033.2:c.485C>T, NM_016033.2:c.485C>A, XM_011517097.3:c.527C>T, XM_011517097.3:c.527C>A, XM_011517097.2:c.527C>T, XM_011517097.2:c.527C>A, XM_011517097.1:c.527C>T, XM_011517097.1:c.527C>A, XM_011517098.3:c.527C>T, XM_011517098.3:c.527C>A, XM_011517098.2:c.527C>T, XM_011517098.2:c.527C>A, XM_011517098.1:c.527C>T, XM_011517098.1:c.527C>A, XM_017013518.3:c.485C>T, XM_017013518.3:c.485C>A, XM_017013518.2:c.485C>T, XM_017013518.2:c.485C>A, XM_017013518.1:c.485C>T, XM_017013518.1:c.485C>A, XM_011517091.3:c.527C>T, XM_011517091.3:c.527C>A, XM_011517091.2:c.527C>T, XM_011517091.2:c.527C>A, XM_011517091.1:c.527C>T, XM_011517091.1:c.527C>A, XM_011517092.3:c.527C>T, XM_011517092.3:c.527C>A, XM_011517092.2:c.527C>T, XM_011517092.2:c.527C>A, XM_011517092.1:c.527C>T, XM_011517092.1:c.527C>A, XM_011517095.3:c.527C>T, XM_011517095.3:c.527C>A, XM_011517095.2:c.527C>T, XM_011517095.2:c.527C>A, XM_011517095.1:c.527C>T, XM_011517095.1:c.527C>A, XM_011517094.3:c.527C>T, XM_011517094.3:c.527C>A, XM_011517094.2:c.527C>T, XM_011517094.2:c.527C>A, XM_011517094.1:c.527C>T, XM_011517094.1:c.527C>A, NM_001286719.2:c.485C>T, NM_001286719.2:c.485C>A, NM_001286719.1:c.485C>T, NM_001286719.1:c.485C>A, NM_001286707.2:c.485C>T, NM_001286707.2:c.485C>A, NM_001286707.1:c.485C>T, NM_001286707.1:c.485C>A, XM_017013519.2:c.527C>T, XM_017013519.2:c.527C>A, XM_017013519.1:c.527C>T, XM_017013519.1:c.527C>A, XM_017013522.2:c.527C>T, XM_017013522.2:c.527C>A, XM_017013522.1:c.527C>T, XM_017013522.1:c.527C>A, XM_017013523.2:c.485C>T, XM_017013523.2:c.485C>A, XM_017013523.1:c.485C>T, XM_017013523.1:c.485C>A, NM_001317807.2:c.353C>T, NM_001317807.2:c.353C>A, NM_001317807.1:c.353C>T, NM_001317807.1:c.353C>A, XM_017013521.1:c.485C>T, XM_017013521.1:c.485C>A, XR_007060734.1:n.593C>T, XR_007060734.1:n.593C>A, XM_047421828.1:c.527C>T, XM_047421828.1:c.527C>A, XM_047421829.1:c.485C>T, XM_047421829.1:c.485C>A, XM_047421830.1:c.485C>T, XM_047421830.1:c.485C>A, XM_047421832.1:c.485C>T, XM_047421832.1:c.485C>A, XM_047421834.1:c.485C>T, XM_047421834.1:c.485C>A, XM_047421831.1:c.485C>T, XM_047421831.1:c.485C>A, XM_047421837.1:c.485C>T, XM_047421837.1:c.485C>A, XM_047421839.1:c.485C>T, XM_047421839.1:c.485C>A, XM_017013520.1:c.485C>T, XM_017013520.1:c.485C>A, XM_047421835.1:c.485C>T, XM_047421835.1:c.485C>A, XM_047421836.1:c.527C>T, XM_047421836.1:c.527C>A, XM_047421838.1:c.485C>T, XM_047421838.1:c.485C>A, XM_047421841.1:c.527C>T, XM_047421841.1:c.527C>A, XM_047421840.1:c.485C>T, XM_047421840.1:c.485C>A, XM_047421842.1:c.485C>T, XM_047421842.1:c.485C>A, XP_011515392.1:p.Ala176Val, XP_011515392.1:p.Ala176Glu, XP_005251001.1:p.Ala162Val, XP_005251001.1:p.Ala162Glu, XP_005251005.1:p.Ala118Val, XP_005251005.1:p.Ala118Glu, XP_005251004.1:p.Ala162Val, XP_005251004.1:p.Ala162Glu, XP_011515395.1:p.Ala176Val, XP_011515395.1:p.Ala176Glu, XP_011515398.1:p.Ala176Val, XP_011515398.1:p.Ala176Glu, NP_057117.2:p.Ala162Val, NP_057117.2:p.Ala162Glu, XP_011515399.1:p.Ala176Val, XP_011515399.1:p.Ala176Glu, XP_011515400.1:p.Ala176Val, XP_011515400.1:p.Ala176Glu, XP_016869007.1:p.Ala162Val, XP_016869007.1:p.Ala162Glu, XP_011515393.1:p.Ala176Val, XP_011515393.1:p.Ala176Glu, XP_011515394.1:p.Ala176Val, XP_011515394.1:p.Ala176Glu, XP_011515397.1:p.Ala176Val, XP_011515397.1:p.Ala176Glu, XP_011515396.1:p.Ala176Val, XP_011515396.1:p.Ala176Glu, NP_001273648.1:p.Ala162Val, NP_001273648.1:p.Ala162Glu, NP_001273636.1:p.Ala162Val, NP_001273636.1:p.Ala162Glu, XP_016869008.1:p.Ala176Val, XP_016869008.1:p.Ala176Glu, XP_016869011.1:p.Ala176Val, XP_016869011.1:p.Ala176Glu, XP_016869012.1:p.Ala162Val, XP_016869012.1:p.Ala162Glu, NP_001304736.1:p.Ala118Val, NP_001304736.1:p.Ala118Glu, XP_016869010.1:p.Ala162Val, XP_016869010.1:p.Ala162Glu, XP_047277784.1:p.Ala176Val, XP_047277784.1:p.Ala176Glu, XP_047277785.1:p.Ala162Val, XP_047277785.1:p.Ala162Glu, XP_047277786.1:p.Ala162Val, XP_047277786.1:p.Ala162Glu, XP_047277788.1:p.Ala162Val, XP_047277788.1:p.Ala162Glu, XP_047277790.1:p.Ala162Val, XP_047277790.1:p.Ala162Glu, XP_047277787.1:p.Ala162Val, XP_047277787.1:p.Ala162Glu, XP_047277793.1:p.Ala162Val, XP_047277793.1:p.Ala162Glu, XP_047277795.1:p.Ala162Val, XP_047277795.1:p.Ala162Glu, XP_016869009.1:p.Ala162Val, XP_016869009.1:p.Ala162Glu, XP_047277791.1:p.Ala162Val, XP_047277791.1:p.Ala162Glu, XP_047277792.1:p.Ala176Val, XP_047277792.1:p.Ala176Glu, XP_047277794.1:p.Ala162Val, XP_047277794.1:p.Ala162Glu, XP_047277797.1:p.Ala176Val, XP_047277797.1:p.Ala176Glu, XP_047277796.1:p.Ala162Val, XP_047277796.1:p.Ala162Glu, XP_047277798.1:p.Ala162Val, XP_047277798.1:p.Ala162Glu

    2.

    rs1488483631 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      8:86486582 (GRCh38)
      8:87498811 (GRCh37)
      Canonical SPDI:
      NC_000008.11:86486581:T:C,NC_000008.11:86486581:T:G
      Gene:
      RMDN1 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000008.11:g.86486582T>C, NC_000008.11:g.86486582T>G, NC_000008.10:g.87498811T>C, NC_000008.10:g.87498811T>G, XM_011517090.4:c.439A>G, XM_011517090.4:c.439A>C, XM_011517090.3:c.439A>G, XM_011517090.3:c.439A>C, XM_011517090.2:c.439A>G, XM_011517090.2:c.439A>C, XM_011517090.1:c.439A>G, XM_011517090.1:c.439A>C, XM_005250944.4:c.397A>G, XM_005250944.4:c.397A>C, XM_005250944.3:c.397A>G, XM_005250944.3:c.397A>C, XM_005250944.2:c.397A>G, XM_005250944.2:c.397A>C, XM_005250944.1:c.397A>G, XM_005250944.1:c.397A>C, XM_005250948.4:c.265A>G, XM_005250948.4:c.265A>C, XM_005250948.3:c.265A>G, XM_005250948.3:c.265A>C, XM_005250948.2:c.265A>G, XM_005250948.2:c.265A>C, XM_005250948.1:c.265A>G, XM_005250948.1:c.265A>C, XM_005250947.4:c.397A>G, XM_005250947.4:c.397A>C, XM_005250947.3:c.397A>G, XM_005250947.3:c.397A>C, XM_005250947.2:c.397A>G, XM_005250947.2:c.397A>C, XM_005250947.1:c.397A>G, XM_005250947.1:c.397A>C, XM_011517093.3:c.439A>G, XM_011517093.3:c.439A>C, XM_011517093.2:c.439A>G, XM_011517093.2:c.439A>C, XM_011517093.1:c.439A>G, XM_011517093.1:c.439A>C, XM_011517096.3:c.439A>G, XM_011517096.3:c.439A>C, XM_011517096.2:c.439A>G, XM_011517096.2:c.439A>C, XM_011517096.1:c.439A>G, XM_011517096.1:c.439A>C, NM_016033.3:c.397A>G, NM_016033.3:c.397A>C, NM_016033.2:c.397A>G, NM_016033.2:c.397A>C, XM_011517097.3:c.439A>G, XM_011517097.3:c.439A>C, XM_011517097.2:c.439A>G, XM_011517097.2:c.439A>C, XM_011517097.1:c.439A>G, XM_011517097.1:c.439A>C, XM_011517098.3:c.439A>G, XM_011517098.3:c.439A>C, XM_011517098.2:c.439A>G, XM_011517098.2:c.439A>C, XM_011517098.1:c.439A>G, XM_011517098.1:c.439A>C, XM_017013518.3:c.397A>G, XM_017013518.3:c.397A>C, XM_017013518.2:c.397A>G, XM_017013518.2:c.397A>C, XM_017013518.1:c.397A>G, XM_017013518.1:c.397A>C, XM_011517091.3:c.439A>G, XM_011517091.3:c.439A>C, XM_011517091.2:c.439A>G, XM_011517091.2:c.439A>C, XM_011517091.1:c.439A>G, XM_011517091.1:c.439A>C, XM_011517092.3:c.439A>G, XM_011517092.3:c.439A>C, XM_011517092.2:c.439A>G, XM_011517092.2:c.439A>C, XM_011517092.1:c.439A>G, XM_011517092.1:c.439A>C, XM_011517095.3:c.439A>G, XM_011517095.3:c.439A>C, XM_011517095.2:c.439A>G, XM_011517095.2:c.439A>C, XM_011517095.1:c.439A>G, XM_011517095.1:c.439A>C, XM_011517094.3:c.439A>G, XM_011517094.3:c.439A>C, XM_011517094.2:c.439A>G, XM_011517094.2:c.439A>C, XM_011517094.1:c.439A>G, XM_011517094.1:c.439A>C, NM_001286719.2:c.397A>G, NM_001286719.2:c.397A>C, NM_001286719.1:c.397A>G, NM_001286719.1:c.397A>C, NM_001286707.2:c.397A>G, NM_001286707.2:c.397A>C, NM_001286707.1:c.397A>G, NM_001286707.1:c.397A>C, XM_017013519.2:c.439A>G, XM_017013519.2:c.439A>C, XM_017013519.1:c.439A>G, XM_017013519.1:c.439A>C, XM_017013522.2:c.439A>G, XM_017013522.2:c.439A>C, XM_017013522.1:c.439A>G, XM_017013522.1:c.439A>C, XM_017013523.2:c.397A>G, XM_017013523.2:c.397A>C, XM_017013523.1:c.397A>G, XM_017013523.1:c.397A>C, NM_001317807.2:c.265A>G, NM_001317807.2:c.265A>C, NM_001317807.1:c.265A>G, NM_001317807.1:c.265A>C, XM_017013521.1:c.397A>G, XM_017013521.1:c.397A>C, XR_007060734.1:n.505A>G, XR_007060734.1:n.505A>C, XM_047421828.1:c.439A>G, XM_047421828.1:c.439A>C, XM_047421829.1:c.397A>G, XM_047421829.1:c.397A>C, XM_047421830.1:c.397A>G, XM_047421830.1:c.397A>C, XM_047421832.1:c.397A>G, XM_047421832.1:c.397A>C, XM_047421834.1:c.397A>G, XM_047421834.1:c.397A>C, XM_047421831.1:c.397A>G, XM_047421831.1:c.397A>C, XM_047421837.1:c.397A>G, XM_047421837.1:c.397A>C, XM_047421839.1:c.397A>G, XM_047421839.1:c.397A>C, XM_017013520.1:c.397A>G, XM_017013520.1:c.397A>C, XM_047421835.1:c.397A>G, XM_047421835.1:c.397A>C, XM_047421836.1:c.439A>G, XM_047421836.1:c.439A>C, XM_047421838.1:c.397A>G, XM_047421838.1:c.397A>C, XM_047421841.1:c.439A>G, XM_047421841.1:c.439A>C, XM_047421840.1:c.397A>G, XM_047421840.1:c.397A>C, XM_047421842.1:c.397A>G, XM_047421842.1:c.397A>C, XP_011515392.1:p.Arg147Gly, XP_005251001.1:p.Arg133Gly, XP_005251005.1:p.Arg89Gly, XP_005251004.1:p.Arg133Gly, XP_011515395.1:p.Arg147Gly, XP_011515398.1:p.Arg147Gly, NP_057117.2:p.Arg133Gly, XP_011515399.1:p.Arg147Gly, XP_011515400.1:p.Arg147Gly, XP_016869007.1:p.Arg133Gly, XP_011515393.1:p.Arg147Gly, XP_011515394.1:p.Arg147Gly, XP_011515397.1:p.Arg147Gly, XP_011515396.1:p.Arg147Gly, NP_001273648.1:p.Arg133Gly, NP_001273636.1:p.Arg133Gly, XP_016869008.1:p.Arg147Gly, XP_016869011.1:p.Arg147Gly, XP_016869012.1:p.Arg133Gly, NP_001304736.1:p.Arg89Gly, XP_016869010.1:p.Arg133Gly, XP_047277784.1:p.Arg147Gly, XP_047277785.1:p.Arg133Gly, XP_047277786.1:p.Arg133Gly, XP_047277788.1:p.Arg133Gly, XP_047277790.1:p.Arg133Gly, XP_047277787.1:p.Arg133Gly, XP_047277793.1:p.Arg133Gly, XP_047277795.1:p.Arg133Gly, XP_016869009.1:p.Arg133Gly, XP_047277791.1:p.Arg133Gly, XP_047277792.1:p.Arg147Gly, XP_047277794.1:p.Arg133Gly, XP_047277797.1:p.Arg147Gly, XP_047277796.1:p.Arg133Gly, XP_047277798.1:p.Arg133Gly

      3.

      rs1486159238 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        8:86478981 (GRCh38)
        8:87491210 (GRCh37)
        Canonical SPDI:
        NC_000008.11:86478980:T:C
        Gene:
        RMDN1 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000008.11:g.86478981T>C, NC_000008.10:g.87491210T>C, XM_011517090.4:c.713A>G, XM_011517090.3:c.713A>G, XM_011517090.2:c.713A>G, XM_011517090.1:c.713A>G, XM_005250944.4:c.671A>G, XM_005250944.3:c.671A>G, XM_005250944.2:c.671A>G, XM_005250944.1:c.671A>G, XM_005250948.4:c.539A>G, XM_005250948.3:c.539A>G, XM_005250948.2:c.539A>G, XM_005250948.1:c.539A>G, XM_005250947.4:c.581A>G, XM_005250947.3:c.581A>G, XM_005250947.2:c.581A>G, XM_005250947.1:c.581A>G, XM_011517093.3:c.713A>G, XM_011517093.2:c.713A>G, XM_011517093.1:c.713A>G, XM_011517096.3:c.713A>G, XM_011517096.2:c.713A>G, XM_011517096.1:c.713A>G, NM_016033.3:c.671A>G, NM_016033.2:c.671A>G, XM_011517097.3:c.623A>G, XM_011517097.2:c.623A>G, XM_011517097.1:c.623A>G, XM_011517098.3:c.623A>G, XM_011517098.2:c.623A>G, XM_011517098.1:c.623A>G, XM_017013518.3:c.671A>G, XM_017013518.2:c.671A>G, XM_017013518.1:c.671A>G, XM_011517091.3:c.713A>G, XM_011517091.2:c.713A>G, XM_011517091.1:c.713A>G, XM_011517092.3:c.623A>G, XM_011517092.2:c.623A>G, XM_011517092.1:c.623A>G, XM_011517095.3:c.713A>G, XM_011517095.2:c.713A>G, XM_011517095.1:c.713A>G, XM_011517094.3:c.713A>G, XM_011517094.2:c.713A>G, XM_011517094.1:c.713A>G, NM_001286719.2:c.581A>G, NM_001286719.1:c.581A>G, NM_001286707.2:c.581A>G, NM_001286707.1:c.581A>G, XM_017013519.2:c.713A>G, XM_017013519.1:c.713A>G, XM_017013522.2:c.713A>G, XM_017013522.1:c.713A>G, XM_017013523.2:c.671A>G, XM_017013523.1:c.671A>G, NM_001317807.2:c.539A>G, NM_001317807.1:c.539A>G, XM_017013521.1:c.671A>G, XR_007060734.1:n.779A>G, XM_047421828.1:c.713A>G, XM_047421829.1:c.671A>G, XM_047421830.1:c.581A>G, XM_047421832.1:c.581A>G, XM_047421834.1:c.671A>G, XM_047421831.1:c.581A>G, XM_047421837.1:c.671A>G, XM_047421839.1:c.581A>G, XM_017013520.1:c.671A>G, XM_047421835.1:c.671A>G, XM_047421836.1:c.623A>G, XM_047421838.1:c.581A>G, XM_047421841.1:c.623A>G, XM_047421840.1:c.581A>G, XM_047421842.1:c.581A>G, XP_011515392.1:p.Tyr238Cys, XP_005251001.1:p.Tyr224Cys, XP_005251005.1:p.Tyr180Cys, XP_005251004.1:p.Tyr194Cys, XP_011515395.1:p.Tyr238Cys, XP_011515398.1:p.Tyr238Cys, NP_057117.2:p.Tyr224Cys, XP_011515399.1:p.Tyr208Cys, XP_011515400.1:p.Tyr208Cys, XP_016869007.1:p.Tyr224Cys, XP_011515393.1:p.Tyr238Cys, XP_011515394.1:p.Tyr208Cys, XP_011515397.1:p.Tyr238Cys, XP_011515396.1:p.Tyr238Cys, NP_001273648.1:p.Tyr194Cys, NP_001273636.1:p.Tyr194Cys, XP_016869008.1:p.Tyr238Cys, XP_016869011.1:p.Tyr238Cys, XP_016869012.1:p.Tyr224Cys, NP_001304736.1:p.Tyr180Cys, XP_016869010.1:p.Tyr224Cys, XP_047277784.1:p.Tyr238Cys, XP_047277785.1:p.Tyr224Cys, XP_047277786.1:p.Tyr194Cys, XP_047277788.1:p.Tyr194Cys, XP_047277790.1:p.Tyr224Cys, XP_047277787.1:p.Tyr194Cys, XP_047277793.1:p.Tyr224Cys, XP_047277795.1:p.Tyr194Cys, XP_016869009.1:p.Tyr224Cys, XP_047277791.1:p.Tyr224Cys, XP_047277792.1:p.Tyr208Cys, XP_047277794.1:p.Tyr194Cys, XP_047277797.1:p.Tyr208Cys, XP_047277796.1:p.Tyr194Cys, XP_047277798.1:p.Tyr194Cys

        4.

        rs1477672173 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:86486509 (GRCh38)
          8:87498738 (GRCh37)
          Canonical SPDI:
          NC_000008.11:86486508:T:C
          Gene:
          RMDN1 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.86486509T>C, NC_000008.10:g.87498738T>C, XM_011517090.4:c.512A>G, XM_011517090.3:c.512A>G, XM_011517090.2:c.512A>G, XM_011517090.1:c.512A>G, XM_005250944.4:c.470A>G, XM_005250944.3:c.470A>G, XM_005250944.2:c.470A>G, XM_005250944.1:c.470A>G, XM_005250948.4:c.338A>G, XM_005250948.3:c.338A>G, XM_005250948.2:c.338A>G, XM_005250948.1:c.338A>G, XM_005250947.4:c.470A>G, XM_005250947.3:c.470A>G, XM_005250947.2:c.470A>G, XM_005250947.1:c.470A>G, XM_011517093.3:c.512A>G, XM_011517093.2:c.512A>G, XM_011517093.1:c.512A>G, XM_011517096.3:c.512A>G, XM_011517096.2:c.512A>G, XM_011517096.1:c.512A>G, NM_016033.3:c.470A>G, NM_016033.2:c.470A>G, XM_011517097.3:c.512A>G, XM_011517097.2:c.512A>G, XM_011517097.1:c.512A>G, XM_011517098.3:c.512A>G, XM_011517098.2:c.512A>G, XM_011517098.1:c.512A>G, XM_017013518.3:c.470A>G, XM_017013518.2:c.470A>G, XM_017013518.1:c.470A>G, XM_011517091.3:c.512A>G, XM_011517091.2:c.512A>G, XM_011517091.1:c.512A>G, XM_011517092.3:c.512A>G, XM_011517092.2:c.512A>G, XM_011517092.1:c.512A>G, XM_011517095.3:c.512A>G, XM_011517095.2:c.512A>G, XM_011517095.1:c.512A>G, XM_011517094.3:c.512A>G, XM_011517094.2:c.512A>G, XM_011517094.1:c.512A>G, NM_001286719.2:c.470A>G, NM_001286719.1:c.470A>G, NM_001286707.2:c.470A>G, NM_001286707.1:c.470A>G, XM_017013519.2:c.512A>G, XM_017013519.1:c.512A>G, XM_017013522.2:c.512A>G, XM_017013522.1:c.512A>G, XM_017013523.2:c.470A>G, XM_017013523.1:c.470A>G, NM_001317807.2:c.338A>G, NM_001317807.1:c.338A>G, XM_017013521.1:c.470A>G, XR_007060734.1:n.578A>G, XM_047421828.1:c.512A>G, XM_047421829.1:c.470A>G, XM_047421830.1:c.470A>G, XM_047421832.1:c.470A>G, XM_047421834.1:c.470A>G, XM_047421831.1:c.470A>G, XM_047421837.1:c.470A>G, XM_047421839.1:c.470A>G, XM_017013520.1:c.470A>G, XM_047421835.1:c.470A>G, XM_047421836.1:c.512A>G, XM_047421838.1:c.470A>G, XM_047421841.1:c.512A>G, XM_047421840.1:c.470A>G, XM_047421842.1:c.470A>G, XP_011515392.1:p.Asn171Ser, XP_005251001.1:p.Asn157Ser, XP_005251005.1:p.Asn113Ser, XP_005251004.1:p.Asn157Ser, XP_011515395.1:p.Asn171Ser, XP_011515398.1:p.Asn171Ser, NP_057117.2:p.Asn157Ser, XP_011515399.1:p.Asn171Ser, XP_011515400.1:p.Asn171Ser, XP_016869007.1:p.Asn157Ser, XP_011515393.1:p.Asn171Ser, XP_011515394.1:p.Asn171Ser, XP_011515397.1:p.Asn171Ser, XP_011515396.1:p.Asn171Ser, NP_001273648.1:p.Asn157Ser, NP_001273636.1:p.Asn157Ser, XP_016869008.1:p.Asn171Ser, XP_016869011.1:p.Asn171Ser, XP_016869012.1:p.Asn157Ser, NP_001304736.1:p.Asn113Ser, XP_016869010.1:p.Asn157Ser, XP_047277784.1:p.Asn171Ser, XP_047277785.1:p.Asn157Ser, XP_047277786.1:p.Asn157Ser, XP_047277788.1:p.Asn157Ser, XP_047277790.1:p.Asn157Ser, XP_047277787.1:p.Asn157Ser, XP_047277793.1:p.Asn157Ser, XP_047277795.1:p.Asn157Ser, XP_016869009.1:p.Asn157Ser, XP_047277791.1:p.Asn157Ser, XP_047277792.1:p.Asn171Ser, XP_047277794.1:p.Asn157Ser, XP_047277797.1:p.Asn171Ser, XP_047277796.1:p.Asn157Ser, XP_047277798.1:p.Asn157Ser

          5.

          rs1472086761 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:86486568 (GRCh38)
            8:87498797 (GRCh37)
            Canonical SPDI:
            NC_000008.11:86486567:C:T
            Gene:
            RMDN1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            T=0.000021/3 (GnomAD)
            HGVS:
            NC_000008.11:g.86486568C>T, NC_000008.10:g.87498797C>T, XM_011517090.4:c.453G>A, XM_011517090.3:c.453G>A, XM_011517090.2:c.453G>A, XM_011517090.1:c.453G>A, XM_005250944.4:c.411G>A, XM_005250944.3:c.411G>A, XM_005250944.2:c.411G>A, XM_005250944.1:c.411G>A, XM_005250948.4:c.279G>A, XM_005250948.3:c.279G>A, XM_005250948.2:c.279G>A, XM_005250948.1:c.279G>A, XM_005250947.4:c.411G>A, XM_005250947.3:c.411G>A, XM_005250947.2:c.411G>A, XM_005250947.1:c.411G>A, XM_011517093.3:c.453G>A, XM_011517093.2:c.453G>A, XM_011517093.1:c.453G>A, XM_011517096.3:c.453G>A, XM_011517096.2:c.453G>A, XM_011517096.1:c.453G>A, NM_016033.3:c.411G>A, NM_016033.2:c.411G>A, XM_011517097.3:c.453G>A, XM_011517097.2:c.453G>A, XM_011517097.1:c.453G>A, XM_011517098.3:c.453G>A, XM_011517098.2:c.453G>A, XM_011517098.1:c.453G>A, XM_017013518.3:c.411G>A, XM_017013518.2:c.411G>A, XM_017013518.1:c.411G>A, XM_011517091.3:c.453G>A, XM_011517091.2:c.453G>A, XM_011517091.1:c.453G>A, XM_011517092.3:c.453G>A, XM_011517092.2:c.453G>A, XM_011517092.1:c.453G>A, XM_011517095.3:c.453G>A, XM_011517095.2:c.453G>A, XM_011517095.1:c.453G>A, XM_011517094.3:c.453G>A, XM_011517094.2:c.453G>A, XM_011517094.1:c.453G>A, NM_001286719.2:c.411G>A, NM_001286719.1:c.411G>A, NM_001286707.2:c.411G>A, NM_001286707.1:c.411G>A, XM_017013519.2:c.453G>A, XM_017013519.1:c.453G>A, XM_017013522.2:c.453G>A, XM_017013522.1:c.453G>A, XM_017013523.2:c.411G>A, XM_017013523.1:c.411G>A, NM_001317807.2:c.279G>A, NM_001317807.1:c.279G>A, XM_017013521.1:c.411G>A, XR_007060734.1:n.519G>A, XM_047421828.1:c.453G>A, XM_047421829.1:c.411G>A, XM_047421830.1:c.411G>A, XM_047421832.1:c.411G>A, XM_047421834.1:c.411G>A, XM_047421831.1:c.411G>A, XM_047421837.1:c.411G>A, XM_047421839.1:c.411G>A, XM_017013520.1:c.411G>A, XM_047421835.1:c.411G>A, XM_047421836.1:c.453G>A, XM_047421838.1:c.411G>A, XM_047421841.1:c.453G>A, XM_047421840.1:c.411G>A, XM_047421842.1:c.411G>A

            6.

            rs1468849288 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:86472477 (GRCh38)
              8:87484706 (GRCh37)
              Canonical SPDI:
              NC_000008.11:86472476:C:T
              Gene:
              RMDN1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              HGVS:
              NC_000008.11:g.86472477C>T, NC_000008.10:g.87484706C>T, XM_011517093.3:c.*1831G>A, XM_011517093.2:c.*1831G>A, XM_011517093.1:c.*1831G>A, XM_011517096.3:c.*1831G>A, XM_011517096.2:c.*1831G>A, XM_011517096.1:c.*1831G>A, NM_016033.3:c.*1831G>A, NM_016033.2:c.*1831G>A, XM_011517097.3:c.*1831G>A, XM_011517097.2:c.*1831G>A, XM_011517097.1:c.*1831G>A, XM_011517098.3:c.*1831G>A, XM_011517098.2:c.*1831G>A, XM_011517098.1:c.*1831G>A, XM_011517094.3:c.939G>A, XM_011517094.2:c.939G>A, XM_011517094.1:c.939G>A, NM_001286719.2:c.*1831G>A, NM_001286719.1:c.*1831G>A, NM_001286707.2:c.*1831G>A, NM_001286707.1:c.*1831G>A, XM_017013519.2:c.900G>A, XM_017013519.1:c.900G>A, NM_001317807.2:c.726G>A, NM_001317807.1:c.726G>A, XM_017013521.1:c.*1831G>A, XM_017013520.1:c.897G>A, XM_047421835.1:c.858G>A, XM_047421836.1:c.849G>A, XM_047421838.1:c.807G>A, XM_047421840.1:c.768G>A

              7.

              rs1467541857 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:86508596 (GRCh38)
                8:87520825 (GRCh37)
                Canonical SPDI:
                NC_000008.11:86508595:G:A
                Gene:
                RMDN1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000008.11:g.86508596G>A, NC_000008.10:g.87520825G>A, XM_011517090.4:c.25C>T, XM_011517090.3:c.25C>T, XM_011517090.2:c.25C>T, XM_011517090.1:c.25C>T, XM_005250944.4:c.25C>T, XM_005250944.3:c.25C>T, XM_005250944.2:c.25C>T, XM_005250944.1:c.25C>T, XM_005250947.4:c.25C>T, XM_005250947.3:c.25C>T, XM_005250947.2:c.25C>T, XM_005250947.1:c.25C>T, XM_011517093.3:c.25C>T, XM_011517093.2:c.25C>T, XM_011517093.1:c.25C>T, XM_011517096.3:c.25C>T, XM_011517096.2:c.25C>T, XM_011517096.1:c.25C>T, NM_016033.3:c.25C>T, NM_016033.2:c.25C>T, XM_011517097.3:c.25C>T, XM_011517097.2:c.25C>T, XM_011517097.1:c.25C>T, XM_011517098.3:c.25C>T, XM_011517098.2:c.25C>T, XM_011517098.1:c.25C>T, XM_017013518.3:c.25C>T, XM_017013518.2:c.25C>T, XM_017013518.1:c.25C>T, XM_011517091.3:c.25C>T, XM_011517091.2:c.25C>T, XM_011517091.1:c.25C>T, XM_011517092.3:c.25C>T, XM_011517092.2:c.25C>T, XM_011517092.1:c.25C>T, XM_011517095.3:c.25C>T, XM_011517095.2:c.25C>T, XM_011517095.1:c.25C>T, XM_011517094.3:c.25C>T, XM_011517094.2:c.25C>T, XM_011517094.1:c.25C>T, NM_001286719.2:c.25C>T, NM_001286719.1:c.25C>T, NM_001286707.2:c.25C>T, NM_001286707.1:c.25C>T, XM_017013519.2:c.25C>T, XM_017013519.1:c.25C>T, XM_017013522.2:c.25C>T, XM_017013522.1:c.25C>T, XM_017013523.2:c.25C>T, XM_017013523.1:c.25C>T, XM_017013521.1:c.25C>T, XR_007060734.1:n.91C>T, XM_047421828.1:c.25C>T, XM_047421829.1:c.25C>T, XM_047421830.1:c.25C>T, XM_047421832.1:c.25C>T, XM_047421834.1:c.25C>T, XM_047421831.1:c.25C>T, XM_047421837.1:c.25C>T, XM_047421839.1:c.25C>T, XM_017013520.1:c.25C>T, XM_047421835.1:c.25C>T, XM_047421836.1:c.25C>T, XM_047421838.1:c.25C>T, XM_047421841.1:c.25C>T, XM_047421840.1:c.25C>T, XM_047421842.1:c.25C>T, XP_011515392.1:p.Arg9Cys, XP_005251001.1:p.Arg9Cys, XP_005251004.1:p.Arg9Cys, XP_011515395.1:p.Arg9Cys, XP_011515398.1:p.Arg9Cys, NP_057117.2:p.Arg9Cys, XP_011515399.1:p.Arg9Cys, XP_011515400.1:p.Arg9Cys, XP_016869007.1:p.Arg9Cys, XP_011515393.1:p.Arg9Cys, XP_011515394.1:p.Arg9Cys, XP_011515397.1:p.Arg9Cys, XP_011515396.1:p.Arg9Cys, NP_001273648.1:p.Arg9Cys, NP_001273636.1:p.Arg9Cys, XP_016869008.1:p.Arg9Cys, XP_016869011.1:p.Arg9Cys, XP_016869012.1:p.Arg9Cys, XP_016869010.1:p.Arg9Cys, XP_047277784.1:p.Arg9Cys, XP_047277785.1:p.Arg9Cys, XP_047277786.1:p.Arg9Cys, XP_047277788.1:p.Arg9Cys, XP_047277790.1:p.Arg9Cys, XP_047277787.1:p.Arg9Cys, XP_047277793.1:p.Arg9Cys, XP_047277795.1:p.Arg9Cys, XP_016869009.1:p.Arg9Cys, XP_047277791.1:p.Arg9Cys, XP_047277792.1:p.Arg9Cys, XP_047277794.1:p.Arg9Cys, XP_047277797.1:p.Arg9Cys, XP_047277796.1:p.Arg9Cys, XP_047277798.1:p.Arg9Cys

                8.

                rs1466096828 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  8:86484935 (GRCh38)
                  8:87497164 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:86484934:A:G
                  Gene:
                  RMDN1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.86484935A>G, NC_000008.10:g.87497164A>G, XM_011517090.4:c.564T>C, XM_011517090.3:c.564T>C, XM_011517090.2:c.564T>C, XM_011517090.1:c.564T>C, XM_005250944.4:c.522T>C, XM_005250944.3:c.522T>C, XM_005250944.2:c.522T>C, XM_005250944.1:c.522T>C, XM_005250948.4:c.390T>C, XM_005250948.3:c.390T>C, XM_005250948.2:c.390T>C, XM_005250948.1:c.390T>C, XM_011517093.3:c.564T>C, XM_011517093.2:c.564T>C, XM_011517093.1:c.564T>C, XM_011517096.3:c.564T>C, XM_011517096.2:c.564T>C, XM_011517096.1:c.564T>C, NM_016033.3:c.522T>C, NM_016033.2:c.522T>C, XM_017013518.3:c.522T>C, XM_017013518.2:c.522T>C, XM_017013518.1:c.522T>C, XM_011517091.3:c.564T>C, XM_011517091.2:c.564T>C, XM_011517091.1:c.564T>C, XM_011517095.3:c.564T>C, XM_011517095.2:c.564T>C, XM_011517095.1:c.564T>C, XM_011517094.3:c.564T>C, XM_011517094.2:c.564T>C, XM_011517094.1:c.564T>C, XM_017013519.2:c.564T>C, XM_017013519.1:c.564T>C, XM_017013522.2:c.564T>C, XM_017013522.1:c.564T>C, XM_017013523.2:c.522T>C, XM_017013523.1:c.522T>C, NM_001317807.2:c.390T>C, NM_001317807.1:c.390T>C, XM_017013521.1:c.522T>C, XR_007060734.1:n.630T>C, XM_047421828.1:c.564T>C, XM_047421829.1:c.522T>C, XM_047421834.1:c.522T>C, XM_047421837.1:c.522T>C, XM_017013520.1:c.522T>C, XM_047421835.1:c.522T>C

                  9.

                  rs1462769048 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    8:86480309 (GRCh38)
                    8:87492538 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:86480308:T:C
                    Gene:
                    RMDN1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000008.11:g.86480309T>C, NC_000008.10:g.87492538T>C, XM_011517090.4:c.651A>G, XM_011517090.3:c.651A>G, XM_011517090.2:c.651A>G, XM_011517090.1:c.651A>G, XM_005250944.4:c.609A>G, XM_005250944.3:c.609A>G, XM_005250944.2:c.609A>G, XM_005250944.1:c.609A>G, XM_005250948.4:c.477A>G, XM_005250948.3:c.477A>G, XM_005250948.2:c.477A>G, XM_005250948.1:c.477A>G, XM_005250947.4:c.519A>G, XM_005250947.3:c.519A>G, XM_005250947.2:c.519A>G, XM_005250947.1:c.519A>G, XM_011517093.3:c.651A>G, XM_011517093.2:c.651A>G, XM_011517093.1:c.651A>G, XM_011517096.3:c.651A>G, XM_011517096.2:c.651A>G, XM_011517096.1:c.651A>G, NM_016033.3:c.609A>G, NM_016033.2:c.609A>G, XM_011517097.3:c.561A>G, XM_011517097.2:c.561A>G, XM_011517097.1:c.561A>G, XM_011517098.3:c.561A>G, XM_011517098.2:c.561A>G, XM_011517098.1:c.561A>G, XM_017013518.3:c.609A>G, XM_017013518.2:c.609A>G, XM_017013518.1:c.609A>G, XM_011517091.3:c.651A>G, XM_011517091.2:c.651A>G, XM_011517091.1:c.651A>G, XM_011517092.3:c.561A>G, XM_011517092.2:c.561A>G, XM_011517092.1:c.561A>G, XM_011517095.3:c.651A>G, XM_011517095.2:c.651A>G, XM_011517095.1:c.651A>G, XM_011517094.3:c.651A>G, XM_011517094.2:c.651A>G, XM_011517094.1:c.651A>G, NM_001286719.2:c.519A>G, NM_001286719.1:c.519A>G, NM_001286707.2:c.519A>G, NM_001286707.1:c.519A>G, XM_017013519.2:c.651A>G, XM_017013519.1:c.651A>G, XM_017013522.2:c.651A>G, XM_017013522.1:c.651A>G, XM_017013523.2:c.609A>G, XM_017013523.1:c.609A>G, NM_001317807.2:c.477A>G, NM_001317807.1:c.477A>G, XM_017013521.1:c.609A>G, XR_007060734.1:n.717A>G, XM_047421828.1:c.651A>G, XM_047421829.1:c.609A>G, XM_047421830.1:c.519A>G, XM_047421832.1:c.519A>G, XM_047421834.1:c.609A>G, XM_047421831.1:c.519A>G, XM_047421837.1:c.609A>G, XM_047421839.1:c.519A>G, XM_017013520.1:c.609A>G, XM_047421835.1:c.609A>G, XM_047421836.1:c.561A>G, XM_047421838.1:c.519A>G, XM_047421841.1:c.561A>G, XM_047421840.1:c.519A>G, XM_047421842.1:c.519A>G

                    10.

                    rs1460910675 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      8:86474821 (GRCh38)
                      8:87487050 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:86474820:T:G
                      Gene:
                      RMDN1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000047/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000008.11:g.86474821T>G, NC_000008.10:g.87487050T>G, XM_011517090.4:c.935A>C, XM_011517090.3:c.935A>C, XM_011517090.2:c.935A>C, XM_011517090.1:c.935A>C, XM_005250944.4:c.893A>C, XM_005250944.3:c.893A>C, XM_005250944.2:c.893A>C, XM_005250944.1:c.893A>C, XM_005250948.4:c.761A>C, XM_005250948.3:c.761A>C, XM_005250948.2:c.761A>C, XM_005250948.1:c.761A>C, XM_005250947.4:c.803A>C, XM_005250947.3:c.803A>C, XM_005250947.2:c.803A>C, XM_005250947.1:c.803A>C, XM_011517093.3:c.935A>C, XM_011517093.2:c.935A>C, XM_011517093.1:c.935A>C, XM_011517096.3:c.896A>C, XM_011517096.2:c.896A>C, XM_011517096.1:c.896A>C, NM_016033.3:c.893A>C, NM_016033.2:c.893A>C, XM_011517097.3:c.845A>C, XM_011517097.2:c.845A>C, XM_011517097.1:c.845A>C, XM_011517098.3:c.806A>C, XM_011517098.2:c.806A>C, XM_011517098.1:c.806A>C, XM_017013518.3:c.893A>C, XM_017013518.2:c.893A>C, XM_017013518.1:c.893A>C, XM_011517091.3:c.896A>C, XM_011517091.2:c.896A>C, XM_011517091.1:c.896A>C, XM_011517092.3:c.845A>C, XM_011517092.2:c.845A>C, XM_011517092.1:c.845A>C, XM_011517095.3:c.935A>C, XM_011517095.2:c.935A>C, XM_011517095.1:c.935A>C, XM_011517094.3:c.935A>C, XM_011517094.2:c.935A>C, XM_011517094.1:c.935A>C, NM_001286719.2:c.803A>C, NM_001286719.1:c.803A>C, NM_001286707.2:c.764A>C, NM_001286707.1:c.764A>C, XM_017013519.2:c.896A>C, XM_017013519.1:c.896A>C, NM_001317807.2:c.722A>C, NM_001317807.1:c.722A>C, XM_017013521.1:c.854A>C, XR_007060734.1:n.1001A>C, XM_047421828.1:c.896A>C, XM_047421829.1:c.854A>C, XM_047421830.1:c.803A>C, XM_047421832.1:c.764A>C, XM_047421834.1:c.893A>C, XM_047421831.1:c.764A>C, XM_047421837.1:c.854A>C, XM_047421839.1:c.803A>C, XM_017013520.1:c.893A>C, XM_047421835.1:c.854A>C, XM_047421836.1:c.845A>C, XM_047421838.1:c.803A>C, XM_047421840.1:c.764A>C, XP_011515392.1:p.Gln312Pro, XP_005251001.1:p.Gln298Pro, XP_005251005.1:p.Gln254Pro, XP_005251004.1:p.Gln268Pro, XP_011515395.1:p.Gln312Pro, XP_011515398.1:p.Gln299Pro, NP_057117.2:p.Gln298Pro, XP_011515399.1:p.Gln282Pro, XP_011515400.1:p.Gln269Pro, XP_016869007.1:p.Gln298Pro, XP_011515393.1:p.Gln299Pro, XP_011515394.1:p.Gln282Pro, XP_011515397.1:p.Gln312Pro, XP_011515396.1:p.Gln312Pro, NP_001273648.1:p.Gln268Pro, NP_001273636.1:p.Gln255Pro, XP_016869008.1:p.Gln299Pro, NP_001304736.1:p.Gln241Pro, XP_016869010.1:p.Gln285Pro, XP_047277784.1:p.Gln299Pro, XP_047277785.1:p.Gln285Pro, XP_047277786.1:p.Gln268Pro, XP_047277788.1:p.Gln255Pro, XP_047277790.1:p.Gln298Pro, XP_047277787.1:p.Gln255Pro, XP_047277793.1:p.Gln285Pro, XP_047277795.1:p.Gln268Pro, XP_016869009.1:p.Gln298Pro, XP_047277791.1:p.Gln285Pro, XP_047277792.1:p.Gln282Pro, XP_047277794.1:p.Gln268Pro, XP_047277796.1:p.Gln255Pro

                      11.

                      rs1457872000 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        8:86474913 (GRCh38)
                        8:87487142 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:86474912:T:C
                        Gene:
                        RMDN1 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000008.11:g.86474913T>C, NC_000008.10:g.87487142T>C, XM_011517090.4:c.843A>G, XM_011517090.3:c.843A>G, XM_011517090.2:c.843A>G, XM_011517090.1:c.843A>G, XM_005250944.4:c.801A>G, XM_005250944.3:c.801A>G, XM_005250944.2:c.801A>G, XM_005250944.1:c.801A>G, XM_005250948.4:c.669A>G, XM_005250948.3:c.669A>G, XM_005250948.2:c.669A>G, XM_005250948.1:c.669A>G, XM_005250947.4:c.711A>G, XM_005250947.3:c.711A>G, XM_005250947.2:c.711A>G, XM_005250947.1:c.711A>G, XM_011517093.3:c.843A>G, XM_011517093.2:c.843A>G, XM_011517093.1:c.843A>G, XM_011517096.3:c.804A>G, XM_011517096.2:c.804A>G, XM_011517096.1:c.804A>G, NM_016033.3:c.801A>G, NM_016033.2:c.801A>G, XM_011517097.3:c.753A>G, XM_011517097.2:c.753A>G, XM_011517097.1:c.753A>G, XM_011517098.3:c.714A>G, XM_011517098.2:c.714A>G, XM_011517098.1:c.714A>G, XM_017013518.3:c.801A>G, XM_017013518.2:c.801A>G, XM_017013518.1:c.801A>G, XM_011517091.3:c.804A>G, XM_011517091.2:c.804A>G, XM_011517091.1:c.804A>G, XM_011517092.3:c.753A>G, XM_011517092.2:c.753A>G, XM_011517092.1:c.753A>G, XM_011517095.3:c.843A>G, XM_011517095.2:c.843A>G, XM_011517095.1:c.843A>G, XM_011517094.3:c.843A>G, XM_011517094.2:c.843A>G, XM_011517094.1:c.843A>G, NM_001286719.2:c.711A>G, NM_001286719.1:c.711A>G, NM_001286707.2:c.672A>G, NM_001286707.1:c.672A>G, XM_017013519.2:c.804A>G, XM_017013519.1:c.804A>G, NM_001317807.2:c.630A>G, NM_001317807.1:c.630A>G, XM_017013521.1:c.762A>G, XR_007060734.1:n.909A>G, XM_047421828.1:c.804A>G, XM_047421829.1:c.762A>G, XM_047421830.1:c.711A>G, XM_047421832.1:c.672A>G, XM_047421834.1:c.801A>G, XM_047421831.1:c.672A>G, XM_047421837.1:c.762A>G, XM_047421839.1:c.711A>G, XM_017013520.1:c.801A>G, XM_047421835.1:c.762A>G, XM_047421836.1:c.753A>G, XM_047421838.1:c.711A>G, XM_047421840.1:c.672A>G

                        12.

                        rs1447439551 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:86507006 (GRCh38)
                          8:87519235 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:86507005:G:A
                          Gene:
                          RMDN1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.86507006G>A, NC_000008.10:g.87519235G>A, NG_009577.1:g.3691G>A, XM_011517090.4:c.278C>T, XM_011517090.3:c.278C>T, XM_011517090.2:c.278C>T, XM_011517090.1:c.278C>T, XM_005250944.4:c.236C>T, XM_005250944.3:c.236C>T, XM_005250944.2:c.236C>T, XM_005250944.1:c.236C>T, XM_005250948.4:c.104C>T, XM_005250948.3:c.104C>T, XM_005250948.2:c.104C>T, XM_005250948.1:c.104C>T, XM_005250947.4:c.236C>T, XM_005250947.3:c.236C>T, XM_005250947.2:c.236C>T, XM_005250947.1:c.236C>T, XM_011517093.3:c.278C>T, XM_011517093.2:c.278C>T, XM_011517093.1:c.278C>T, XM_011517096.3:c.278C>T, XM_011517096.2:c.278C>T, XM_011517096.1:c.278C>T, NM_016033.3:c.236C>T, NM_016033.2:c.236C>T, XM_011517097.3:c.278C>T, XM_011517097.2:c.278C>T, XM_011517097.1:c.278C>T, XM_011517098.3:c.278C>T, XM_011517098.2:c.278C>T, XM_011517098.1:c.278C>T, XM_017013518.3:c.236C>T, XM_017013518.2:c.236C>T, XM_017013518.1:c.236C>T, XM_011517091.3:c.278C>T, XM_011517091.2:c.278C>T, XM_011517091.1:c.278C>T, XM_011517092.3:c.278C>T, XM_011517092.2:c.278C>T, XM_011517092.1:c.278C>T, XM_011517095.3:c.278C>T, XM_011517095.2:c.278C>T, XM_011517095.1:c.278C>T, XM_011517094.3:c.278C>T, XM_011517094.2:c.278C>T, XM_011517094.1:c.278C>T, NM_001286719.2:c.236C>T, NM_001286719.1:c.236C>T, NM_001286707.2:c.236C>T, NM_001286707.1:c.236C>T, XM_017013519.2:c.278C>T, XM_017013519.1:c.278C>T, XM_017013522.2:c.278C>T, XM_017013522.1:c.278C>T, XM_017013523.2:c.236C>T, XM_017013523.1:c.236C>T, NM_001317807.2:c.104C>T, NM_001317807.1:c.104C>T, XM_017013521.1:c.236C>T, XR_007060734.1:n.344C>T, XM_047421828.1:c.278C>T, XM_047421829.1:c.236C>T, XM_047421830.1:c.236C>T, XM_047421832.1:c.236C>T, XM_047421834.1:c.236C>T, XM_047421831.1:c.236C>T, XM_047421837.1:c.236C>T, XM_047421839.1:c.236C>T, XM_017013520.1:c.236C>T, XM_047421835.1:c.236C>T, XM_047421836.1:c.278C>T, XM_047421838.1:c.236C>T, XM_047421841.1:c.278C>T, XM_047421840.1:c.236C>T, XM_047421842.1:c.236C>T, XP_011515392.1:p.Ala93Val, XP_005251001.1:p.Ala79Val, XP_005251005.1:p.Ala35Val, XP_005251004.1:p.Ala79Val, XP_011515395.1:p.Ala93Val, XP_011515398.1:p.Ala93Val, NP_057117.2:p.Ala79Val, XP_011515399.1:p.Ala93Val, XP_011515400.1:p.Ala93Val, XP_016869007.1:p.Ala79Val, XP_011515393.1:p.Ala93Val, XP_011515394.1:p.Ala93Val, XP_011515397.1:p.Ala93Val, XP_011515396.1:p.Ala93Val, NP_001273648.1:p.Ala79Val, NP_001273636.1:p.Ala79Val, XP_016869008.1:p.Ala93Val, XP_016869011.1:p.Ala93Val, XP_016869012.1:p.Ala79Val, NP_001304736.1:p.Ala35Val, XP_016869010.1:p.Ala79Val, XP_047277784.1:p.Ala93Val, XP_047277785.1:p.Ala79Val, XP_047277786.1:p.Ala79Val, XP_047277788.1:p.Ala79Val, XP_047277790.1:p.Ala79Val, XP_047277787.1:p.Ala79Val, XP_047277793.1:p.Ala79Val, XP_047277795.1:p.Ala79Val, XP_016869009.1:p.Ala79Val, XP_047277791.1:p.Ala79Val, XP_047277792.1:p.Ala93Val, XP_047277794.1:p.Ala79Val, XP_047277797.1:p.Ala93Val, XP_047277796.1:p.Ala79Val, XP_047277798.1:p.Ala79Val

                          13.

                          rs1447300723 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:86478985 (GRCh38)
                            8:87491214 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:86478984:A:G
                            Gene:
                            RMDN1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000008.11:g.86478985A>G, NC_000008.10:g.87491214A>G, XM_011517090.4:c.709T>C, XM_011517090.3:c.709T>C, XM_011517090.2:c.709T>C, XM_011517090.1:c.709T>C, XM_005250944.4:c.667T>C, XM_005250944.3:c.667T>C, XM_005250944.2:c.667T>C, XM_005250944.1:c.667T>C, XM_005250948.4:c.535T>C, XM_005250948.3:c.535T>C, XM_005250948.2:c.535T>C, XM_005250948.1:c.535T>C, XM_005250947.4:c.577T>C, XM_005250947.3:c.577T>C, XM_005250947.2:c.577T>C, XM_005250947.1:c.577T>C, XM_011517093.3:c.709T>C, XM_011517093.2:c.709T>C, XM_011517093.1:c.709T>C, XM_011517096.3:c.709T>C, XM_011517096.2:c.709T>C, XM_011517096.1:c.709T>C, NM_016033.3:c.667T>C, NM_016033.2:c.667T>C, XM_011517097.3:c.619T>C, XM_011517097.2:c.619T>C, XM_011517097.1:c.619T>C, XM_011517098.3:c.619T>C, XM_011517098.2:c.619T>C, XM_011517098.1:c.619T>C, XM_017013518.3:c.667T>C, XM_017013518.2:c.667T>C, XM_017013518.1:c.667T>C, XM_011517091.3:c.709T>C, XM_011517091.2:c.709T>C, XM_011517091.1:c.709T>C, XM_011517092.3:c.619T>C, XM_011517092.2:c.619T>C, XM_011517092.1:c.619T>C, XM_011517095.3:c.709T>C, XM_011517095.2:c.709T>C, XM_011517095.1:c.709T>C, XM_011517094.3:c.709T>C, XM_011517094.2:c.709T>C, XM_011517094.1:c.709T>C, NM_001286719.2:c.577T>C, NM_001286719.1:c.577T>C, NM_001286707.2:c.577T>C, NM_001286707.1:c.577T>C, XM_017013519.2:c.709T>C, XM_017013519.1:c.709T>C, XM_017013522.2:c.709T>C, XM_017013522.1:c.709T>C, XM_017013523.2:c.667T>C, XM_017013523.1:c.667T>C, NM_001317807.2:c.535T>C, NM_001317807.1:c.535T>C, XM_017013521.1:c.667T>C, XR_007060734.1:n.775T>C, XM_047421828.1:c.709T>C, XM_047421829.1:c.667T>C, XM_047421830.1:c.577T>C, XM_047421832.1:c.577T>C, XM_047421834.1:c.667T>C, XM_047421831.1:c.577T>C, XM_047421837.1:c.667T>C, XM_047421839.1:c.577T>C, XM_017013520.1:c.667T>C, XM_047421835.1:c.667T>C, XM_047421836.1:c.619T>C, XM_047421838.1:c.577T>C, XM_047421841.1:c.619T>C, XM_047421840.1:c.577T>C, XM_047421842.1:c.577T>C, XP_011515392.1:p.Trp237Arg, XP_005251001.1:p.Trp223Arg, XP_005251005.1:p.Trp179Arg, XP_005251004.1:p.Trp193Arg, XP_011515395.1:p.Trp237Arg, XP_011515398.1:p.Trp237Arg, NP_057117.2:p.Trp223Arg, XP_011515399.1:p.Trp207Arg, XP_011515400.1:p.Trp207Arg, XP_016869007.1:p.Trp223Arg, XP_011515393.1:p.Trp237Arg, XP_011515394.1:p.Trp207Arg, XP_011515397.1:p.Trp237Arg, XP_011515396.1:p.Trp237Arg, NP_001273648.1:p.Trp193Arg, NP_001273636.1:p.Trp193Arg, XP_016869008.1:p.Trp237Arg, XP_016869011.1:p.Trp237Arg, XP_016869012.1:p.Trp223Arg, NP_001304736.1:p.Trp179Arg, XP_016869010.1:p.Trp223Arg, XP_047277784.1:p.Trp237Arg, XP_047277785.1:p.Trp223Arg, XP_047277786.1:p.Trp193Arg, XP_047277788.1:p.Trp193Arg, XP_047277790.1:p.Trp223Arg, XP_047277787.1:p.Trp193Arg, XP_047277793.1:p.Trp223Arg, XP_047277795.1:p.Trp193Arg, XP_016869009.1:p.Trp223Arg, XP_047277791.1:p.Trp223Arg, XP_047277792.1:p.Trp207Arg, XP_047277794.1:p.Trp193Arg, XP_047277797.1:p.Trp207Arg, XP_047277796.1:p.Trp193Arg, XP_047277798.1:p.Trp193Arg

                            14.

                            rs1442823526 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:86488560 (GRCh38)
                              8:87500789 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:86488559:G:A
                              Gene:
                              RMDN1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000008.11:g.86488560G>A, NC_000008.10:g.87500789G>A, XM_011517090.4:c.369C>T, XM_011517090.3:c.369C>T, XM_011517090.2:c.369C>T, XM_011517090.1:c.369C>T, XM_005250944.4:c.327C>T, XM_005250944.3:c.327C>T, XM_005250944.2:c.327C>T, XM_005250944.1:c.327C>T, XM_005250948.4:c.195C>T, XM_005250948.3:c.195C>T, XM_005250948.2:c.195C>T, XM_005250948.1:c.195C>T, XM_005250947.4:c.327C>T, XM_005250947.3:c.327C>T, XM_005250947.2:c.327C>T, XM_005250947.1:c.327C>T, XM_011517093.3:c.369C>T, XM_011517093.2:c.369C>T, XM_011517093.1:c.369C>T, XM_011517096.3:c.369C>T, XM_011517096.2:c.369C>T, XM_011517096.1:c.369C>T, NM_016033.3:c.327C>T, NM_016033.2:c.327C>T, XM_011517097.3:c.369C>T, XM_011517097.2:c.369C>T, XM_011517097.1:c.369C>T, XM_011517098.3:c.369C>T, XM_011517098.2:c.369C>T, XM_011517098.1:c.369C>T, XM_017013518.3:c.327C>T, XM_017013518.2:c.327C>T, XM_017013518.1:c.327C>T, XM_011517091.3:c.369C>T, XM_011517091.2:c.369C>T, XM_011517091.1:c.369C>T, XM_011517092.3:c.369C>T, XM_011517092.2:c.369C>T, XM_011517092.1:c.369C>T, XM_011517095.3:c.369C>T, XM_011517095.2:c.369C>T, XM_011517095.1:c.369C>T, XM_011517094.3:c.369C>T, XM_011517094.2:c.369C>T, XM_011517094.1:c.369C>T, NM_001286719.2:c.327C>T, NM_001286719.1:c.327C>T, NM_001286707.2:c.327C>T, NM_001286707.1:c.327C>T, XM_017013519.2:c.369C>T, XM_017013519.1:c.369C>T, XM_017013522.2:c.369C>T, XM_017013522.1:c.369C>T, XM_017013523.2:c.327C>T, XM_017013523.1:c.327C>T, NM_001317807.2:c.195C>T, NM_001317807.1:c.195C>T, XM_017013521.1:c.327C>T, XR_007060734.1:n.435C>T, XM_047421828.1:c.369C>T, XM_047421829.1:c.327C>T, XM_047421830.1:c.327C>T, XM_047421832.1:c.327C>T, XM_047421834.1:c.327C>T, XM_047421831.1:c.327C>T, XM_047421837.1:c.327C>T, XM_047421839.1:c.327C>T, XM_017013520.1:c.327C>T, XM_047421835.1:c.327C>T, XM_047421836.1:c.369C>T, XM_047421838.1:c.327C>T, XM_047421841.1:c.369C>T, XM_047421840.1:c.327C>T, XM_047421842.1:c.327C>T

                              15.

                              rs1438020780 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                8:86508574 (GRCh38)
                                8:87520803 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:86508573:C:G
                                Gene:
                                RMDN1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000009/2 (GnomAD_exomes)
                                G=0.000014/2 (GnomAD)
                                G=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000008.11:g.86508574C>G, NC_000008.10:g.87520803C>G, XM_011517090.4:c.47G>C, XM_011517090.3:c.47G>C, XM_011517090.2:c.47G>C, XM_011517090.1:c.47G>C, XM_005250944.4:c.47G>C, XM_005250944.3:c.47G>C, XM_005250944.2:c.47G>C, XM_005250944.1:c.47G>C, XM_005250947.4:c.47G>C, XM_005250947.3:c.47G>C, XM_005250947.2:c.47G>C, XM_005250947.1:c.47G>C, XM_011517093.3:c.47G>C, XM_011517093.2:c.47G>C, XM_011517093.1:c.47G>C, XM_011517096.3:c.47G>C, XM_011517096.2:c.47G>C, XM_011517096.1:c.47G>C, NM_016033.3:c.47G>C, NM_016033.2:c.47G>C, XM_011517097.3:c.47G>C, XM_011517097.2:c.47G>C, XM_011517097.1:c.47G>C, XM_011517098.3:c.47G>C, XM_011517098.2:c.47G>C, XM_011517098.1:c.47G>C, XM_017013518.3:c.47G>C, XM_017013518.2:c.47G>C, XM_017013518.1:c.47G>C, XM_011517091.3:c.47G>C, XM_011517091.2:c.47G>C, XM_011517091.1:c.47G>C, XM_011517092.3:c.47G>C, XM_011517092.2:c.47G>C, XM_011517092.1:c.47G>C, XM_011517095.3:c.47G>C, XM_011517095.2:c.47G>C, XM_011517095.1:c.47G>C, XM_011517094.3:c.47G>C, XM_011517094.2:c.47G>C, XM_011517094.1:c.47G>C, NM_001286719.2:c.47G>C, NM_001286719.1:c.47G>C, NM_001286707.2:c.47G>C, NM_001286707.1:c.47G>C, XM_017013519.2:c.47G>C, XM_017013519.1:c.47G>C, XM_017013522.2:c.47G>C, XM_017013522.1:c.47G>C, XM_017013523.2:c.47G>C, XM_017013523.1:c.47G>C, XM_017013521.1:c.47G>C, XR_007060734.1:n.113G>C, XM_047421828.1:c.47G>C, XM_047421829.1:c.47G>C, XM_047421830.1:c.47G>C, XM_047421832.1:c.47G>C, XM_047421834.1:c.47G>C, XM_047421831.1:c.47G>C, XM_047421837.1:c.47G>C, XM_047421839.1:c.47G>C, XM_017013520.1:c.47G>C, XM_047421835.1:c.47G>C, XM_047421836.1:c.47G>C, XM_047421838.1:c.47G>C, XM_047421841.1:c.47G>C, XM_047421840.1:c.47G>C, XM_047421842.1:c.47G>C, XP_011515392.1:p.Gly16Ala, XP_005251001.1:p.Gly16Ala, XP_005251004.1:p.Gly16Ala, XP_011515395.1:p.Gly16Ala, XP_011515398.1:p.Gly16Ala, NP_057117.2:p.Gly16Ala, XP_011515399.1:p.Gly16Ala, XP_011515400.1:p.Gly16Ala, XP_016869007.1:p.Gly16Ala, XP_011515393.1:p.Gly16Ala, XP_011515394.1:p.Gly16Ala, XP_011515397.1:p.Gly16Ala, XP_011515396.1:p.Gly16Ala, NP_001273648.1:p.Gly16Ala, NP_001273636.1:p.Gly16Ala, XP_016869008.1:p.Gly16Ala, XP_016869011.1:p.Gly16Ala, XP_016869012.1:p.Gly16Ala, XP_016869010.1:p.Gly16Ala, XP_047277784.1:p.Gly16Ala, XP_047277785.1:p.Gly16Ala, XP_047277786.1:p.Gly16Ala, XP_047277788.1:p.Gly16Ala, XP_047277790.1:p.Gly16Ala, XP_047277787.1:p.Gly16Ala, XP_047277793.1:p.Gly16Ala, XP_047277795.1:p.Gly16Ala, XP_016869009.1:p.Gly16Ala, XP_047277791.1:p.Gly16Ala, XP_047277792.1:p.Gly16Ala, XP_047277794.1:p.Gly16Ala, XP_047277797.1:p.Gly16Ala, XP_047277796.1:p.Gly16Ala, XP_047277798.1:p.Gly16Ala

                                16.

                                rs1437373564 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  8:86507080 (GRCh38)
                                  8:87519309 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:86507079:G:C,NC_000008.11:86507079:G:T
                                  Gene:
                                  RMDN1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000028/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000008.11:g.86507080G>C, NC_000008.11:g.86507080G>T, NC_000008.10:g.87519309G>C, NC_000008.10:g.87519309G>T, XM_011517090.4:c.204C>G, XM_011517090.4:c.204C>A, XM_011517090.3:c.204C>G, XM_011517090.3:c.204C>A, XM_011517090.2:c.204C>G, XM_011517090.2:c.204C>A, XM_011517090.1:c.204C>G, XM_011517090.1:c.204C>A, XM_005250944.4:c.162C>G, XM_005250944.4:c.162C>A, XM_005250944.3:c.162C>G, XM_005250944.3:c.162C>A, XM_005250944.2:c.162C>G, XM_005250944.2:c.162C>A, XM_005250944.1:c.162C>G, XM_005250944.1:c.162C>A, XM_005250948.4:c.30C>G, XM_005250948.4:c.30C>A, XM_005250948.3:c.30C>G, XM_005250948.3:c.30C>A, XM_005250948.2:c.30C>G, XM_005250948.2:c.30C>A, XM_005250948.1:c.30C>G, XM_005250948.1:c.30C>A, XM_005250947.4:c.162C>G, XM_005250947.4:c.162C>A, XM_005250947.3:c.162C>G, XM_005250947.3:c.162C>A, XM_005250947.2:c.162C>G, XM_005250947.2:c.162C>A, XM_005250947.1:c.162C>G, XM_005250947.1:c.162C>A, XM_011517093.3:c.204C>G, XM_011517093.3:c.204C>A, XM_011517093.2:c.204C>G, XM_011517093.2:c.204C>A, XM_011517093.1:c.204C>G, XM_011517093.1:c.204C>A, XM_011517096.3:c.204C>G, XM_011517096.3:c.204C>A, XM_011517096.2:c.204C>G, XM_011517096.2:c.204C>A, XM_011517096.1:c.204C>G, XM_011517096.1:c.204C>A, NM_016033.3:c.162C>G, NM_016033.3:c.162C>A, NM_016033.2:c.162C>G, NM_016033.2:c.162C>A, XM_011517097.3:c.204C>G, XM_011517097.3:c.204C>A, XM_011517097.2:c.204C>G, XM_011517097.2:c.204C>A, XM_011517097.1:c.204C>G, XM_011517097.1:c.204C>A, XM_011517098.3:c.204C>G, XM_011517098.3:c.204C>A, XM_011517098.2:c.204C>G, XM_011517098.2:c.204C>A, XM_011517098.1:c.204C>G, XM_011517098.1:c.204C>A, XM_017013518.3:c.162C>G, XM_017013518.3:c.162C>A, XM_017013518.2:c.162C>G, XM_017013518.2:c.162C>A, XM_017013518.1:c.162C>G, XM_017013518.1:c.162C>A, XM_011517091.3:c.204C>G, XM_011517091.3:c.204C>A, XM_011517091.2:c.204C>G, XM_011517091.2:c.204C>A, XM_011517091.1:c.204C>G, XM_011517091.1:c.204C>A, XM_011517092.3:c.204C>G, XM_011517092.3:c.204C>A, XM_011517092.2:c.204C>G, XM_011517092.2:c.204C>A, XM_011517092.1:c.204C>G, XM_011517092.1:c.204C>A, XM_011517095.3:c.204C>G, XM_011517095.3:c.204C>A, XM_011517095.2:c.204C>G, XM_011517095.2:c.204C>A, XM_011517095.1:c.204C>G, XM_011517095.1:c.204C>A, XM_011517094.3:c.204C>G, XM_011517094.3:c.204C>A, XM_011517094.2:c.204C>G, XM_011517094.2:c.204C>A, XM_011517094.1:c.204C>G, XM_011517094.1:c.204C>A, NM_001286719.2:c.162C>G, NM_001286719.2:c.162C>A, NM_001286719.1:c.162C>G, NM_001286719.1:c.162C>A, NM_001286707.2:c.162C>G, NM_001286707.2:c.162C>A, NM_001286707.1:c.162C>G, NM_001286707.1:c.162C>A, XM_017013519.2:c.204C>G, XM_017013519.2:c.204C>A, XM_017013519.1:c.204C>G, XM_017013519.1:c.204C>A, XM_017013522.2:c.204C>G, XM_017013522.2:c.204C>A, XM_017013522.1:c.204C>G, XM_017013522.1:c.204C>A, XM_017013523.2:c.162C>G, XM_017013523.2:c.162C>A, XM_017013523.1:c.162C>G, XM_017013523.1:c.162C>A, NM_001317807.2:c.30C>G, NM_001317807.2:c.30C>A, NM_001317807.1:c.30C>G, NM_001317807.1:c.30C>A, XM_017013521.1:c.162C>G, XM_017013521.1:c.162C>A, XR_007060734.1:n.270C>G, XR_007060734.1:n.270C>A, XM_047421828.1:c.204C>G, XM_047421828.1:c.204C>A, XM_047421829.1:c.162C>G, XM_047421829.1:c.162C>A, XM_047421830.1:c.162C>G, XM_047421830.1:c.162C>A, XM_047421832.1:c.162C>G, XM_047421832.1:c.162C>A, XM_047421834.1:c.162C>G, XM_047421834.1:c.162C>A, XM_047421831.1:c.162C>G, XM_047421831.1:c.162C>A, XM_047421837.1:c.162C>G, XM_047421837.1:c.162C>A, XM_047421839.1:c.162C>G, XM_047421839.1:c.162C>A, XM_017013520.1:c.162C>G, XM_017013520.1:c.162C>A, XM_047421835.1:c.162C>G, XM_047421835.1:c.162C>A, XM_047421836.1:c.204C>G, XM_047421836.1:c.204C>A, XM_047421838.1:c.162C>G, XM_047421838.1:c.162C>A, XM_047421841.1:c.204C>G, XM_047421841.1:c.204C>A, XM_047421840.1:c.162C>G, XM_047421840.1:c.162C>A, XM_047421842.1:c.162C>G, XM_047421842.1:c.162C>A

                                  17.

                                  rs1436846511 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:86508567 (GRCh38)
                                    8:87520796 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:86508566:G:A
                                    Gene:
                                    RMDN1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000008.11:g.86508567G>A, NC_000008.10:g.87520796G>A, XM_011517090.4:c.54C>T, XM_011517090.3:c.54C>T, XM_011517090.2:c.54C>T, XM_011517090.1:c.54C>T, XM_005250944.4:c.54C>T, XM_005250944.3:c.54C>T, XM_005250944.2:c.54C>T, XM_005250944.1:c.54C>T, XM_005250947.4:c.54C>T, XM_005250947.3:c.54C>T, XM_005250947.2:c.54C>T, XM_005250947.1:c.54C>T, XM_011517093.3:c.54C>T, XM_011517093.2:c.54C>T, XM_011517093.1:c.54C>T, XM_011517096.3:c.54C>T, XM_011517096.2:c.54C>T, XM_011517096.1:c.54C>T, NM_016033.3:c.54C>T, NM_016033.2:c.54C>T, XM_011517097.3:c.54C>T, XM_011517097.2:c.54C>T, XM_011517097.1:c.54C>T, XM_011517098.3:c.54C>T, XM_011517098.2:c.54C>T, XM_011517098.1:c.54C>T, XM_017013518.3:c.54C>T, XM_017013518.2:c.54C>T, XM_017013518.1:c.54C>T, XM_011517091.3:c.54C>T, XM_011517091.2:c.54C>T, XM_011517091.1:c.54C>T, XM_011517092.3:c.54C>T, XM_011517092.2:c.54C>T, XM_011517092.1:c.54C>T, XM_011517095.3:c.54C>T, XM_011517095.2:c.54C>T, XM_011517095.1:c.54C>T, XM_011517094.3:c.54C>T, XM_011517094.2:c.54C>T, XM_011517094.1:c.54C>T, NM_001286719.2:c.54C>T, NM_001286719.1:c.54C>T, NM_001286707.2:c.54C>T, NM_001286707.1:c.54C>T, XM_017013519.2:c.54C>T, XM_017013519.1:c.54C>T, XM_017013522.2:c.54C>T, XM_017013522.1:c.54C>T, XM_017013523.2:c.54C>T, XM_017013523.1:c.54C>T, XM_017013521.1:c.54C>T, XR_007060734.1:n.120C>T, XM_047421828.1:c.54C>T, XM_047421829.1:c.54C>T, XM_047421830.1:c.54C>T, XM_047421832.1:c.54C>T, XM_047421834.1:c.54C>T, XM_047421831.1:c.54C>T, XM_047421837.1:c.54C>T, XM_047421839.1:c.54C>T, XM_017013520.1:c.54C>T, XM_047421835.1:c.54C>T, XM_047421836.1:c.54C>T, XM_047421838.1:c.54C>T, XM_047421841.1:c.54C>T, XM_047421840.1:c.54C>T, XM_047421842.1:c.54C>T

                                    18.

                                    rs1433268531 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      8:86507038 (GRCh38)
                                      8:87519268 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:86507038:T:TT
                                      Gene:
                                      RMDN1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,stop_gained,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TT=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000008.11:g.86507039dup, NC_000008.10:g.87519268dup, NG_009577.1:g.3724dup, XM_011517090.4:c.245dup, XM_011517090.3:c.245dup, XM_011517090.2:c.245dup, XM_011517090.1:c.245dup, XM_005250944.4:c.203dup, XM_005250944.3:c.203dup, XM_005250944.2:c.203dup, XM_005250944.1:c.203dup, XM_005250948.4:c.71dup, XM_005250948.3:c.71dup, XM_005250948.2:c.71dup, XM_005250948.1:c.71dup, XM_005250947.4:c.203dup, XM_005250947.3:c.203dup, XM_005250947.2:c.203dup, XM_005250947.1:c.203dup, XM_011517093.3:c.245dup, XM_011517093.2:c.245dup, XM_011517093.1:c.245dup, XM_011517096.3:c.245dup, XM_011517096.2:c.245dup, XM_011517096.1:c.245dup, NM_016033.3:c.203dup, NM_016033.2:c.203dup, XM_011517097.3:c.245dup, XM_011517097.2:c.245dup, XM_011517097.1:c.245dup, XM_011517098.3:c.245dup, XM_011517098.2:c.245dup, XM_011517098.1:c.245dup, XM_017013518.3:c.203dup, XM_017013518.2:c.203dup, XM_017013518.1:c.203dup, XM_011517091.3:c.245dup, XM_011517091.2:c.245dup, XM_011517091.1:c.245dup, XM_011517092.3:c.245dup, XM_011517092.2:c.245dup, XM_011517092.1:c.245dup, XM_011517095.3:c.245dup, XM_011517095.2:c.245dup, XM_011517095.1:c.245dup, XM_011517094.3:c.245dup, XM_011517094.2:c.245dup, XM_011517094.1:c.245dup, NM_001286719.2:c.203dup, NM_001286719.1:c.203dup, NM_001286707.2:c.203dup, NM_001286707.1:c.203dup, XM_017013519.2:c.245dup, XM_017013519.1:c.245dup, XM_017013522.2:c.245dup, XM_017013522.1:c.245dup, XM_017013523.2:c.203dup, XM_017013523.1:c.203dup, NM_001317807.2:c.71dup, NM_001317807.1:c.71dup, XM_017013521.1:c.203dup, XR_007060734.1:n.311dup, XM_047421828.1:c.245dup, XM_047421829.1:c.203dup, XM_047421830.1:c.203dup, XM_047421832.1:c.203dup, XM_047421834.1:c.203dup, XM_047421831.1:c.203dup, XM_047421837.1:c.203dup, XM_047421839.1:c.203dup, XM_017013520.1:c.203dup, XM_047421835.1:c.203dup, XM_047421836.1:c.245dup, XM_047421838.1:c.203dup, XM_047421841.1:c.245dup, XM_047421840.1:c.203dup, XM_047421842.1:c.203dup, XP_011515392.1:p.Tyr82Ter, XP_005251001.1:p.Tyr68Ter, XP_005251005.1:p.Tyr24Ter, XP_005251004.1:p.Tyr68Ter, XP_011515395.1:p.Tyr82Ter, XP_011515398.1:p.Tyr82Ter, NP_057117.2:p.Tyr68Ter, XP_011515399.1:p.Tyr82Ter, XP_011515400.1:p.Tyr82Ter, XP_016869007.1:p.Tyr68Ter, XP_011515393.1:p.Tyr82Ter, XP_011515394.1:p.Tyr82Ter, XP_011515397.1:p.Tyr82Ter, XP_011515396.1:p.Tyr82Ter, NP_001273648.1:p.Tyr68Ter, NP_001273636.1:p.Tyr68Ter, XP_016869008.1:p.Tyr82Ter, XP_016869011.1:p.Tyr82Ter, XP_016869012.1:p.Tyr68Ter, NP_001304736.1:p.Tyr24Ter, XP_016869010.1:p.Tyr68Ter, XP_047277784.1:p.Tyr82Ter, XP_047277785.1:p.Tyr68Ter, XP_047277786.1:p.Tyr68Ter, XP_047277788.1:p.Tyr68Ter, XP_047277790.1:p.Tyr68Ter, XP_047277787.1:p.Tyr68Ter, XP_047277793.1:p.Tyr68Ter, XP_047277795.1:p.Tyr68Ter, XP_016869009.1:p.Tyr68Ter, XP_047277791.1:p.Tyr68Ter, XP_047277792.1:p.Tyr82Ter, XP_047277794.1:p.Tyr68Ter, XP_047277797.1:p.Tyr82Ter, XP_047277796.1:p.Tyr68Ter, XP_047277798.1:p.Tyr68Ter

                                      19.

                                      rs1428474635 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:86508498 (GRCh38)
                                        8:87520727 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:86508497:G:A
                                        Gene:
                                        RMDN1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.86508498G>A, NC_000008.10:g.87520727G>A, XM_011517090.4:c.123C>T, XM_011517090.3:c.123C>T, XM_011517090.2:c.123C>T, XM_011517090.1:c.123C>T, XM_005250944.4:c.123C>T, XM_005250944.3:c.123C>T, XM_005250944.2:c.123C>T, XM_005250944.1:c.123C>T, XM_005250947.4:c.123C>T, XM_005250947.3:c.123C>T, XM_005250947.2:c.123C>T, XM_005250947.1:c.123C>T, XM_011517093.3:c.123C>T, XM_011517093.2:c.123C>T, XM_011517093.1:c.123C>T, XM_011517096.3:c.123C>T, XM_011517096.2:c.123C>T, XM_011517096.1:c.123C>T, NM_016033.3:c.123C>T, NM_016033.2:c.123C>T, XM_011517097.3:c.123C>T, XM_011517097.2:c.123C>T, XM_011517097.1:c.123C>T, XM_011517098.3:c.123C>T, XM_011517098.2:c.123C>T, XM_011517098.1:c.123C>T, XM_017013518.3:c.123C>T, XM_017013518.2:c.123C>T, XM_017013518.1:c.123C>T, XM_011517091.3:c.123C>T, XM_011517091.2:c.123C>T, XM_011517091.1:c.123C>T, XM_011517092.3:c.123C>T, XM_011517092.2:c.123C>T, XM_011517092.1:c.123C>T, XM_011517095.3:c.123C>T, XM_011517095.2:c.123C>T, XM_011517095.1:c.123C>T, XM_011517094.3:c.123C>T, XM_011517094.2:c.123C>T, XM_011517094.1:c.123C>T, NM_001286719.2:c.123C>T, NM_001286719.1:c.123C>T, NM_001286707.2:c.123C>T, NM_001286707.1:c.123C>T, XM_017013519.2:c.123C>T, XM_017013519.1:c.123C>T, XM_017013522.2:c.123C>T, XM_017013522.1:c.123C>T, XM_017013523.2:c.123C>T, XM_017013523.1:c.123C>T, XM_017013521.1:c.123C>T, XR_007060734.1:n.189C>T, XM_047421828.1:c.123C>T, XM_047421829.1:c.123C>T, XM_047421830.1:c.123C>T, XM_047421832.1:c.123C>T, XM_047421834.1:c.123C>T, XM_047421831.1:c.123C>T, XM_047421837.1:c.123C>T, XM_047421839.1:c.123C>T, XM_017013520.1:c.123C>T, XM_047421835.1:c.123C>T, XM_047421836.1:c.123C>T, XM_047421838.1:c.123C>T, XM_047421841.1:c.123C>T, XM_047421840.1:c.123C>T, XM_047421842.1:c.123C>T

                                        20.

                                        rs1428130527 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          8:86474867 (GRCh38)
                                          8:87487096 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:86474866:G:A
                                          Gene:
                                          RMDN1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.86474867G>A, NC_000008.10:g.87487096G>A, XM_011517090.4:c.889C>T, XM_011517090.3:c.889C>T, XM_011517090.2:c.889C>T, XM_011517090.1:c.889C>T, XM_005250944.4:c.847C>T, XM_005250944.3:c.847C>T, XM_005250944.2:c.847C>T, XM_005250944.1:c.847C>T, XM_005250948.4:c.715C>T, XM_005250948.3:c.715C>T, XM_005250948.2:c.715C>T, XM_005250948.1:c.715C>T, XM_005250947.4:c.757C>T, XM_005250947.3:c.757C>T, XM_005250947.2:c.757C>T, XM_005250947.1:c.757C>T, XM_011517093.3:c.889C>T, XM_011517093.2:c.889C>T, XM_011517093.1:c.889C>T, XM_011517096.3:c.850C>T, XM_011517096.2:c.850C>T, XM_011517096.1:c.850C>T, NM_016033.3:c.847C>T, NM_016033.2:c.847C>T, XM_011517097.3:c.799C>T, XM_011517097.2:c.799C>T, XM_011517097.1:c.799C>T, XM_011517098.3:c.760C>T, XM_011517098.2:c.760C>T, XM_011517098.1:c.760C>T, XM_017013518.3:c.847C>T, XM_017013518.2:c.847C>T, XM_017013518.1:c.847C>T, XM_011517091.3:c.850C>T, XM_011517091.2:c.850C>T, XM_011517091.1:c.850C>T, XM_011517092.3:c.799C>T, XM_011517092.2:c.799C>T, XM_011517092.1:c.799C>T, XM_011517095.3:c.889C>T, XM_011517095.2:c.889C>T, XM_011517095.1:c.889C>T, XM_011517094.3:c.889C>T, XM_011517094.2:c.889C>T, XM_011517094.1:c.889C>T, NM_001286719.2:c.757C>T, NM_001286719.1:c.757C>T, NM_001286707.2:c.718C>T, NM_001286707.1:c.718C>T, XM_017013519.2:c.850C>T, XM_017013519.1:c.850C>T, NM_001317807.2:c.676C>T, NM_001317807.1:c.676C>T, XM_017013521.1:c.808C>T, XR_007060734.1:n.955C>T, XM_047421828.1:c.850C>T, XM_047421829.1:c.808C>T, XM_047421830.1:c.757C>T, XM_047421832.1:c.718C>T, XM_047421834.1:c.847C>T, XM_047421831.1:c.718C>T, XM_047421837.1:c.808C>T, XM_047421839.1:c.757C>T, XM_017013520.1:c.847C>T, XM_047421835.1:c.808C>T, XM_047421836.1:c.799C>T, XM_047421838.1:c.757C>T, XM_047421840.1:c.718C>T

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