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Items: 1 to 20 of 1412

1.

rs1490821342 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:15301236 (GRCh38)
    1:15627732 (GRCh37)
    Canonical SPDI:
    NC_000001.11:15301235:T:C
    Gene:
    FHAD1 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.15301236T>C, NC_000001.10:g.15627732T>C, XM_011540584.4:c.761T>C, XM_011540584.3:c.761T>C, XM_011540584.2:c.761T>C, XM_011540584.1:c.761T>C, XM_011540588.4:c.761T>C, XM_011540588.3:c.761T>C, XM_011540588.2:c.761T>C, XM_011540588.1:c.761T>C, XM_011540581.4:c.761T>C, XM_011540581.3:c.761T>C, XM_011540581.2:c.761T>C, XM_011540581.1:c.761T>C, XM_011540582.4:c.761T>C, XM_011540582.3:c.761T>C, XM_011540582.2:c.761T>C, XM_011540582.1:c.761T>C, XM_011540597.4:c.761T>C, XM_011540597.3:c.761T>C, XM_011540597.2:c.761T>C, XM_011540597.1:c.761T>C, XM_011540598.4:c.761T>C, XM_011540598.3:c.761T>C, XM_011540598.2:c.761T>C, XM_011540598.1:c.761T>C, XM_017000211.3:c.761T>C, XM_017000211.2:c.761T>C, XM_017000211.1:c.761T>C, XM_017000198.3:c.761T>C, XM_017000198.2:c.761T>C, XM_017000198.1:c.761T>C, XM_011540576.3:c.761T>C, XM_011540576.2:c.761T>C, XM_011540576.1:c.761T>C, XM_011540577.3:c.710T>C, XM_011540577.2:c.710T>C, XM_011540577.1:c.710T>C, XM_017000199.3:c.761T>C, XM_017000199.2:c.761T>C, XM_017000199.1:c.761T>C, XM_017000203.3:c.761T>C, XM_017000203.2:c.761T>C, XM_017000203.1:c.761T>C, XM_017000206.3:c.761T>C, XM_017000206.2:c.761T>C, XM_017000206.1:c.761T>C, XM_017000210.3:c.761T>C, XM_017000210.2:c.761T>C, XM_017000210.1:c.761T>C, XM_017000212.3:c.761T>C, XM_017000212.2:c.761T>C, XM_017000212.1:c.761T>C, XM_017000214.3:c.761T>C, XM_017000214.2:c.761T>C, XM_017000214.1:c.761T>C, XM_024452903.2:c.761T>C, XM_024452903.1:c.761T>C, XM_024452912.2:c.761T>C, XM_024452912.1:c.761T>C, XM_024452887.2:c.761T>C, XM_024452887.1:c.761T>C, NM_052929.2:c.710T>C, NM_052929.1:c.710T>C, XM_017000200.2:c.761T>C, XM_017000200.1:c.761T>C, XM_017000201.2:c.761T>C, XM_017000201.1:c.761T>C, XM_017000202.2:c.761T>C, XM_017000202.1:c.761T>C, XM_017000205.2:c.761T>C, XM_017000205.1:c.761T>C, XM_024452898.2:c.503T>C, XM_024452898.1:c.503T>C, XM_024452918.2:c.761T>C, XM_024452918.1:c.761T>C, XM_011540592.2:c.422T>C, XM_011540592.1:c.422T>C, XM_011540595.2:c.128T>C, XM_011540595.1:c.128T>C, XM_017000213.2:c.761T>C, XM_017000213.1:c.761T>C, XM_047443734.1:c.761T>C, XM_047443798.1:c.761T>C, XM_047443776.1:c.761T>C, NM_001391921.1:c.761T>C, NM_001387888.1:c.*786T>C, NM_001391957.1:c.710T>C, XM_047443743.1:c.761T>C, XM_047443774.1:c.761T>C, XM_047443790.1:c.761T>C, XM_047443801.1:c.761T>C, XM_047443737.1:c.710T>C, XM_047443846.1:c.503T>C, XM_047443847.1:c.710T>C, XP_011538886.1:p.Val254Ala, XP_011538890.1:p.Val254Ala, XP_011538883.1:p.Val254Ala, XP_011538884.1:p.Val254Ala, XP_011538899.1:p.Val254Ala, XP_011538900.1:p.Val254Ala, XP_016855700.1:p.Val254Ala, XP_016855687.1:p.Val254Ala, XP_011538878.1:p.Val254Ala, XP_011538879.1:p.Val237Ala, XP_016855688.1:p.Val254Ala, XP_016855692.1:p.Val254Ala, XP_016855695.1:p.Val254Ala, XP_016855699.1:p.Val254Ala, XP_016855701.1:p.Val254Ala, XP_016855703.1:p.Val254Ala, XP_024308671.1:p.Val254Ala, XP_024308680.1:p.Val254Ala, XP_024308655.1:p.Val254Ala, NP_443161.1:p.Val237Ala, XP_016855689.1:p.Val254Ala, XP_016855690.1:p.Val254Ala, XP_016855691.1:p.Val254Ala, XP_016855694.1:p.Val254Ala, XP_024308666.1:p.Val168Ala, XP_024308686.1:p.Val254Ala, XP_011538894.1:p.Val141Ala, XP_011538897.1:p.Val43Ala, XP_016855702.1:p.Val254Ala, XP_047299690.1:p.Val254Ala, XP_047299754.1:p.Val254Ala, XP_047299732.1:p.Val254Ala, NP_001378886.1:p.Val237Ala, XP_047299699.1:p.Val254Ala, XP_047299730.1:p.Val254Ala, XP_047299746.1:p.Val254Ala, XP_047299757.1:p.Val254Ala, XP_047299693.1:p.Val237Ala, XP_047299802.1:p.Val168Ala, XP_047299803.1:p.Val237Ala

    2.

    rs1490357655 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:15375707 (GRCh38)
      1:15702203 (GRCh37)
      Canonical SPDI:
      NC_000001.11:15375706:C:A
      Gene:
      FHAD1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000007/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.15375707C>A, NC_000001.10:g.15702203C>A, XM_011540584.4:c.3733C>A, XM_011540584.3:c.3733C>A, XM_011540584.2:c.3733C>A, XM_011540584.1:c.3733C>A, XM_011540588.4:c.3733C>A, XM_011540588.3:c.3733C>A, XM_011540588.2:c.3733C>A, XM_011540588.1:c.3733C>A, XM_011540581.4:c.3733C>A, XM_011540581.3:c.3733C>A, XM_011540581.2:c.3733C>A, XM_011540581.1:c.3733C>A, XM_011540582.4:c.3733C>A, XM_011540582.3:c.3733C>A, XM_011540582.2:c.3733C>A, XM_011540582.1:c.3733C>A, XM_017000211.3:c.3622C>A, XM_017000211.2:c.3622C>A, XM_017000211.1:c.3622C>A, XM_017000198.3:c.3733C>A, XM_017000198.2:c.3733C>A, XM_017000198.1:c.3733C>A, XM_011540576.3:c.3730C>A, XM_011540576.2:c.3730C>A, XM_011540576.1:c.3730C>A, XM_011540577.3:c.3682C>A, XM_011540577.2:c.3682C>A, XM_011540577.1:c.3682C>A, XM_017000199.3:c.3733C>A, XM_017000199.2:c.3733C>A, XM_017000199.1:c.3733C>A, XM_017000203.3:c.3733C>A, XM_017000203.2:c.3733C>A, XM_017000203.1:c.3733C>A, XM_017000206.3:c.3733C>A, XM_017000206.2:c.3733C>A, XM_017000206.1:c.3733C>A, XM_017000207.3:c.3496C>A, XM_017000207.2:c.3496C>A, XM_017000207.1:c.3496C>A, XM_017000210.3:c.3733C>A, XM_017000210.2:c.3733C>A, XM_017000210.1:c.3733C>A, XM_017000212.3:c.3733C>A, XM_017000212.2:c.3733C>A, XM_017000212.1:c.3733C>A, XM_011540596.3:c.2410C>A, XM_011540596.2:c.2665C>A, XM_011540596.1:c.2665C>A, XM_024452903.2:c.3733C>A, XM_024452903.1:c.3733C>A, XM_024452912.2:c.3733C>A, XM_024452912.1:c.3733C>A, XM_024452887.2:c.3733C>A, XM_024452887.1:c.3733C>A, NM_052929.2:c.3616C>A, NM_052929.1:c.3616C>A, XM_017000200.2:c.3733C>A, XM_017000200.1:c.3733C>A, XM_017000201.2:c.3733C>A, XM_017000201.1:c.3733C>A, XM_017000202.2:c.3625C>A, XM_017000202.1:c.3625C>A, XM_017000205.2:c.3538C>A, XM_017000205.1:c.3538C>A, XM_024452898.2:c.3475C>A, XM_024452898.1:c.3475C>A, XM_024452918.2:c.3667C>A, XM_024452918.1:c.3667C>A, XM_011540592.2:c.3394C>A, XM_011540592.1:c.3394C>A, XM_011540595.2:c.3100C>A, XM_011540595.1:c.3100C>A, XM_047443734.1:c.3733C>A, XM_047443798.1:c.3733C>A, XM_047443776.1:c.3733C>A, NM_001391921.1:c.3733C>A, NM_001387888.1:c.*3758C>A, NM_001391957.1:c.3682C>A, XM_047443743.1:c.3730C>A, XM_047443774.1:c.3730C>A, XM_047443790.1:c.3625C>A, XM_047443801.1:c.3625C>A, XM_047443737.1:c.3574C>A, XM_047443835.1:c.2797C>A, XP_011538886.1:p.Leu1245Ile, XP_011538890.1:p.Leu1245Ile, XP_011538883.1:p.Leu1245Ile, XP_011538884.1:p.Leu1245Ile, XP_016855700.1:p.Leu1208Ile, XP_016855687.1:p.Leu1245Ile, XP_011538878.1:p.Leu1244Ile, XP_011538879.1:p.Leu1228Ile, XP_016855688.1:p.Leu1245Ile, XP_016855692.1:p.Leu1245Ile, XP_016855695.1:p.Leu1245Ile, XP_016855696.1:p.Leu1166Ile, XP_016855699.1:p.Leu1245Ile, XP_016855701.1:p.Leu1245Ile, XP_011538898.2:p.Leu804Ile, XP_024308671.1:p.Leu1245Ile, XP_024308680.1:p.Leu1245Ile, XP_024308655.1:p.Leu1245Ile, NP_443161.1:p.Leu1206Ile, XP_016855689.1:p.Leu1245Ile, XP_016855690.1:p.Leu1245Ile, XP_016855691.1:p.Leu1209Ile, XP_016855694.1:p.Leu1180Ile, XP_024308666.1:p.Leu1159Ile, XP_024308686.1:p.Leu1223Ile, XP_011538894.1:p.Leu1132Ile, XP_011538897.1:p.Leu1034Ile, XP_047299690.1:p.Leu1245Ile, XP_047299754.1:p.Leu1245Ile, XP_047299732.1:p.Leu1245Ile, NP_001378886.1:p.Leu1228Ile, XP_047299699.1:p.Leu1244Ile, XP_047299730.1:p.Leu1244Ile, XP_047299746.1:p.Leu1209Ile, XP_047299757.1:p.Leu1209Ile, XP_047299693.1:p.Leu1192Ile, XP_047299791.1:p.Leu933Ile

      3.

      rs1490241768 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        1:15388053 (GRCh38)
        1:15714549 (GRCh37)
        Canonical SPDI:
        NC_000001.11:15388052:A:C
        Gene:
        FHAD1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.15388053A>C, NC_000001.10:g.15714549A>C, XM_011540584.4:c.4366A>C, XM_011540584.3:c.4366A>C, XM_011540584.2:c.4366A>C, XM_011540584.1:c.4366A>C, XM_011540581.4:c.4242A>C, XM_011540581.3:c.4242A>C, XM_011540581.2:c.4242A>C, XM_011540581.1:c.4242A>C, XM_011540582.4:c.4242A>C, XM_011540582.3:c.4242A>C, XM_011540582.2:c.4242A>C, XM_011540582.1:c.4242A>C, XM_017000198.3:c.4366A>C, XM_017000198.2:c.4366A>C, XM_017000198.1:c.4366A>C, XM_011540576.3:c.4363A>C, XM_011540576.2:c.4363A>C, XM_011540576.1:c.4363A>C, XM_011540577.3:c.4315A>C, XM_011540577.2:c.4315A>C, XM_011540577.1:c.4315A>C, XM_017000199.3:c.4366A>C, XM_017000199.2:c.4366A>C, XM_017000199.1:c.4366A>C, XM_017000203.3:c.4242A>C, XM_017000203.2:c.4242A>C, XM_017000203.1:c.4242A>C, XM_017000207.3:c.4129A>C, XM_017000207.2:c.4129A>C, XM_017000207.1:c.4129A>C, XM_011540596.3:c.3043A>C, XM_011540596.2:c.3298A>C, XM_011540596.1:c.3298A>C, XM_017000200.2:c.4366A>C, XM_017000200.1:c.4366A>C, XM_017000201.2:c.4297A>C, XM_017000201.1:c.4297A>C, XM_017000202.2:c.4258A>C, XM_017000202.1:c.4258A>C, XM_017000205.2:c.4171A>C, XM_017000205.1:c.4171A>C, XM_024452898.2:c.4108A>C, XM_024452898.1:c.4108A>C, XM_011540592.2:c.4027A>C, XM_011540592.1:c.4027A>C, XM_011540595.2:c.3733A>C, XM_011540595.1:c.3733A>C, XM_047443734.1:c.4242A>C, XM_047443776.1:c.4242A>C, NM_001391921.1:c.4242A>C, NM_001387888.1:c.*4267A>C, NM_001391957.1:c.4191A>C, XM_047443737.1:c.4207A>C, XP_011538886.1:p.Lys1456Gln, XP_011538883.1:p.Glu1414Asp, XP_011538884.1:p.Glu1414Asp, XP_016855687.1:p.Lys1456Gln, XP_011538878.1:p.Lys1455Gln, XP_011538879.1:p.Lys1439Gln, XP_016855688.1:p.Lys1456Gln, XP_016855692.1:p.Glu1414Asp, XP_016855696.1:p.Lys1377Gln, XP_011538898.2:p.Lys1015Gln, XP_016855689.1:p.Lys1456Gln, XP_016855690.1:p.Lys1433Gln, XP_016855691.1:p.Lys1420Gln, XP_016855694.1:p.Lys1391Gln, XP_024308666.1:p.Lys1370Gln, XP_011538894.1:p.Lys1343Gln, XP_011538897.1:p.Lys1245Gln, XP_047299690.1:p.Glu1414Asp, XP_047299732.1:p.Glu1414Asp, NP_001378886.1:p.Glu1397Asp, XP_047299693.1:p.Lys1403Gln

        4.

        rs1489866180 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:15381311 (GRCh38)
          1:15707807 (GRCh37)
          Canonical SPDI:
          NC_000001.11:15381310:C:T
          Gene:
          FHAD1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000006/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.15381311C>T, NC_000001.10:g.15707807C>T, XM_011540584.4:c.3933C>T, XM_011540584.3:c.3933C>T, XM_011540584.2:c.3933C>T, XM_011540584.1:c.3933C>T, XM_011540588.4:c.3933C>T, XM_011540588.3:c.3933C>T, XM_011540588.2:c.3933C>T, XM_011540588.1:c.3933C>T, XM_011540581.4:c.3933C>T, XM_011540581.3:c.3933C>T, XM_011540581.2:c.3933C>T, XM_011540581.1:c.3933C>T, XM_011540582.4:c.3933C>T, XM_011540582.3:c.3933C>T, XM_011540582.2:c.3933C>T, XM_011540582.1:c.3933C>T, XM_017000211.3:c.3822C>T, XM_017000211.2:c.3822C>T, XM_017000211.1:c.3822C>T, XM_017000198.3:c.3933C>T, XM_017000198.2:c.3933C>T, XM_017000198.1:c.3933C>T, XM_011540576.3:c.3930C>T, XM_011540576.2:c.3930C>T, XM_011540576.1:c.3930C>T, XM_011540577.3:c.3882C>T, XM_011540577.2:c.3882C>T, XM_011540577.1:c.3882C>T, XM_017000199.3:c.3933C>T, XM_017000199.2:c.3933C>T, XM_017000199.1:c.3933C>T, XM_017000203.3:c.3933C>T, XM_017000203.2:c.3933C>T, XM_017000203.1:c.3933C>T, XM_017000206.3:c.3933C>T, XM_017000206.2:c.3933C>T, XM_017000206.1:c.3933C>T, XM_017000207.3:c.3696C>T, XM_017000207.2:c.3696C>T, XM_017000207.1:c.3696C>T, XM_017000210.3:c.3933C>T, XM_017000210.2:c.3933C>T, XM_017000210.1:c.3933C>T, XM_017000212.3:c.3933C>T, XM_017000212.2:c.3933C>T, XM_017000212.1:c.3933C>T, XM_011540596.3:c.2610C>T, XM_011540596.2:c.2865C>T, XM_011540596.1:c.2865C>T, XM_024452903.2:c.3933C>T, XM_024452903.1:c.3933C>T, XM_024452912.2:c.3933C>T, XM_024452912.1:c.3933C>T, XM_024452887.2:c.3933C>T, XM_024452887.1:c.3933C>T, NM_052929.2:c.3816C>T, NM_052929.1:c.3816C>T, XM_017000200.2:c.3933C>T, XM_017000200.1:c.3933C>T, XM_017000201.2:c.3933C>T, XM_017000201.1:c.3933C>T, XM_017000202.2:c.3825C>T, XM_017000202.1:c.3825C>T, XM_017000205.2:c.3738C>T, XM_017000205.1:c.3738C>T, XM_024452898.2:c.3675C>T, XM_024452898.1:c.3675C>T, XM_024452918.2:c.3867C>T, XM_024452918.1:c.3867C>T, XM_011540592.2:c.3594C>T, XM_011540592.1:c.3594C>T, XM_011540595.2:c.3300C>T, XM_011540595.1:c.3300C>T, XM_047443734.1:c.3933C>T, XM_047443798.1:c.3933C>T, XM_047443776.1:c.3933C>T, NM_001391921.1:c.3933C>T, NM_001387888.1:c.*3958C>T, NM_001391957.1:c.3882C>T, XM_047443743.1:c.3930C>T, XM_047443774.1:c.3930C>T, XM_047443790.1:c.3825C>T, XM_047443801.1:c.3825C>T, XM_047443737.1:c.3774C>T, XM_047443835.1:c.2997C>T

          5.

          rs1489398293 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:15329408 (GRCh38)
            1:15655904 (GRCh37)
            Canonical SPDI:
            NC_000001.11:15329407:C:T
            Gene:
            FHAD1 (Varview), FHAD1-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,synonymous_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_000001.11:g.15329408C>T, NC_000001.10:g.15655904C>T, XM_011540584.4:c.1824C>T, XM_011540584.3:c.1824C>T, XM_011540584.2:c.1824C>T, XM_011540584.1:c.1824C>T, XM_011540588.4:c.1824C>T, XM_011540588.3:c.1824C>T, XM_011540588.2:c.1824C>T, XM_011540588.1:c.1824C>T, XM_011540581.4:c.1824C>T, XM_011540581.3:c.1824C>T, XM_011540581.2:c.1824C>T, XM_011540581.1:c.1824C>T, XM_011540582.4:c.1824C>T, XM_011540582.3:c.1824C>T, XM_011540582.2:c.1824C>T, XM_011540582.1:c.1824C>T, XM_011540597.4:c.1824C>T, XM_011540597.3:c.1824C>T, XM_011540597.2:c.1824C>T, XM_011540597.1:c.1824C>T, XM_011540598.4:c.1824C>T, XM_011540598.3:c.1824C>T, XM_011540598.2:c.1824C>T, XM_011540598.1:c.1824C>T, XM_017000211.3:c.1824C>T, XM_017000211.2:c.1824C>T, XM_017000211.1:c.1824C>T, XM_017000198.3:c.1824C>T, XM_017000198.2:c.1824C>T, XM_017000198.1:c.1824C>T, XM_011540576.3:c.1824C>T, XM_011540576.2:c.1824C>T, XM_011540576.1:c.1824C>T, XM_011540577.3:c.1773C>T, XM_011540577.2:c.1773C>T, XM_011540577.1:c.1773C>T, XM_017000199.3:c.1824C>T, XM_017000199.2:c.1824C>T, XM_017000199.1:c.1824C>T, XM_017000203.3:c.1824C>T, XM_017000203.2:c.1824C>T, XM_017000203.1:c.1824C>T, XM_017000206.3:c.1824C>T, XM_017000206.2:c.1824C>T, XM_017000206.1:c.1824C>T, XM_017000207.3:c.1587C>T, XM_017000207.2:c.1587C>T, XM_017000207.1:c.1587C>T, XM_017000210.3:c.1824C>T, XM_017000210.2:c.1824C>T, XM_017000210.1:c.1824C>T, XM_017000212.3:c.1824C>T, XM_017000212.2:c.1824C>T, XM_017000212.1:c.1824C>T, XM_011540596.3:c.501C>T, XM_011540596.2:c.756C>T, XM_011540596.1:c.756C>T, XM_017000214.3:c.1824C>T, XM_017000214.2:c.1824C>T, XM_017000214.1:c.1824C>T, XM_024452903.2:c.1824C>T, XM_024452903.1:c.1824C>T, XM_024452912.2:c.1824C>T, XM_024452912.1:c.1824C>T, XM_024452887.2:c.1824C>T, XM_024452887.1:c.1824C>T, NM_052929.2:c.1773C>T, NM_052929.1:c.1773C>T, XM_017000200.2:c.1824C>T, XM_017000200.1:c.1824C>T, XM_017000201.2:c.1824C>T, XM_017000201.1:c.1824C>T, XM_017000202.2:c.1716C>T, XM_017000202.1:c.1716C>T, XM_017000205.2:c.1629C>T, XM_017000205.1:c.1629C>T, XM_024452898.2:c.1566C>T, XM_024452898.1:c.1566C>T, XM_024452918.2:c.1824C>T, XM_024452918.1:c.1824C>T, XM_011540592.2:c.1485C>T, XM_011540592.1:c.1485C>T, XM_011540595.2:c.1191C>T, XM_011540595.1:c.1191C>T, XM_017000213.2:c.1824C>T, XM_017000213.1:c.1824C>T, XM_047443734.1:c.1824C>T, XM_047443798.1:c.1824C>T, XM_047443776.1:c.1824C>T, NM_001391921.1:c.1824C>T, NM_001387888.1:c.*1849C>T, NM_001391957.1:c.1773C>T, XM_047443743.1:c.1824C>T, XM_047443774.1:c.1824C>T, XM_047443790.1:c.1824C>T, XM_047443801.1:c.1716C>T, XM_047443737.1:c.1665C>T, XM_047443846.1:c.1566C>T, XM_047443835.1:c.891C>T, NR_148918.1:n.384G>A, NR_148919.1:n.381G>A, XM_047443847.1:c.1773C>T

            6.

            rs1489072457 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TGCCCTACAG>- [Show Flanks]
              Chromosome:
              1:15308618 (GRCh38)
              1:15635114 (GRCh37)
              Canonical SPDI:
              NC_000001.11:15308614:CAGTGCCCTACAG:CAG
              Gene:
              FHAD1 (Varview)
              Functional Consequence:
              frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              -=0.000006/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.15308618_15308627del, NC_000001.10:g.15635114_15635123del, XM_011540584.4:c.972_981del, XM_011540584.3:c.972_981del, XM_011540584.2:c.972_981del, XM_011540584.1:c.972_981del, XM_011540588.4:c.972_981del, XM_011540588.3:c.972_981del, XM_011540588.2:c.972_981del, XM_011540588.1:c.972_981del, XM_011540581.4:c.972_981del, XM_011540581.3:c.972_981del, XM_011540581.2:c.972_981del, XM_011540581.1:c.972_981del, XM_011540582.4:c.972_981del, XM_011540582.3:c.972_981del, XM_011540582.2:c.972_981del, XM_011540582.1:c.972_981del, XM_011540597.4:c.972_981del, XM_011540597.3:c.972_981del, XM_011540597.2:c.972_981del, XM_011540597.1:c.972_981del, XM_011540598.4:c.972_981del, XM_011540598.3:c.972_981del, XM_011540598.2:c.972_981del, XM_011540598.1:c.972_981del, XM_017000211.3:c.972_981del, XM_017000211.2:c.972_981del, XM_017000211.1:c.972_981del, XM_017000198.3:c.972_981del, XM_017000198.2:c.972_981del, XM_017000198.1:c.972_981del, XM_011540576.3:c.972_981del, XM_011540576.2:c.972_981del, XM_011540576.1:c.972_981del, XM_011540577.3:c.921_930del, XM_011540577.2:c.921_930del, XM_011540577.1:c.921_930del, XM_017000199.3:c.972_981del, XM_017000199.2:c.972_981del, XM_017000199.1:c.972_981del, XM_017000203.3:c.972_981del, XM_017000203.2:c.972_981del, XM_017000203.1:c.972_981del, XM_017000206.3:c.972_981del, XM_017000206.2:c.972_981del, XM_017000206.1:c.972_981del, XM_017000207.3:c.735_744del, XM_017000207.2:c.735_744del, XM_017000207.1:c.735_744del, XM_017000210.3:c.972_981del, XM_017000210.2:c.972_981del, XM_017000210.1:c.972_981del, XM_017000212.3:c.972_981del, XM_017000212.2:c.972_981del, XM_017000212.1:c.972_981del, XM_017000214.3:c.972_981del, XM_017000214.2:c.972_981del, XM_017000214.1:c.972_981del, XM_024452903.2:c.972_981del, XM_024452903.1:c.972_981del, XM_024452912.2:c.972_981del, XM_024452912.1:c.972_981del, XM_024452887.2:c.972_981del, XM_024452887.1:c.972_981del, NM_052929.2:c.921_930del, NM_052929.1:c.921_930del, XM_017000200.2:c.972_981del, XM_017000200.1:c.972_981del, XM_017000201.2:c.972_981del, XM_017000201.1:c.972_981del, XM_017000202.2:c.972_981del, XM_017000202.1:c.972_981del, XM_017000205.2:c.972_981del, XM_017000205.1:c.972_981del, XM_024452898.2:c.714_723del, XM_024452898.1:c.714_723del, XM_024452918.2:c.972_981del, XM_024452918.1:c.972_981del, XM_011540592.2:c.633_642del, XM_011540592.1:c.633_642del, XM_011540595.2:c.339_348del, XM_011540595.1:c.339_348del, XM_017000213.2:c.972_981del, XM_017000213.1:c.972_981del, XM_047443734.1:c.972_981del, XM_047443798.1:c.972_981del, XM_047443776.1:c.972_981del, NM_001391921.1:c.972_981del, NM_001387888.1:c.*997_*1006del, NM_001391957.1:c.921_930del, XM_047443743.1:c.972_981del, XM_047443774.1:c.972_981del, XM_047443790.1:c.972_981del, XM_047443801.1:c.972_981del, XM_047443737.1:c.921_930del, XM_047443846.1:c.714_723del, XM_047443835.1:c.39_48del, XM_047443847.1:c.921_930del, XP_011538886.1:p.Ser324fs, XP_011538890.1:p.Ser324fs, XP_011538883.1:p.Ser324fs, XP_011538884.1:p.Ser324fs, XP_011538899.1:p.Ser324fs, XP_011538900.1:p.Ser324fs, XP_016855700.1:p.Ser324fs, XP_016855687.1:p.Ser324fs, XP_011538878.1:p.Ser324fs, XP_011538879.1:p.Ser307fs, XP_016855688.1:p.Ser324fs, XP_016855692.1:p.Ser324fs, XP_016855695.1:p.Ser324fs, XP_016855696.1:p.Ser245fs, XP_016855699.1:p.Ser324fs, XP_016855701.1:p.Ser324fs, XP_016855703.1:p.Ser324fs, XP_024308671.1:p.Ser324fs, XP_024308680.1:p.Ser324fs, XP_024308655.1:p.Ser324fs, NP_443161.1:p.Ser307fs, XP_016855689.1:p.Ser324fs, XP_016855690.1:p.Ser324fs, XP_016855691.1:p.Ser324fs, XP_016855694.1:p.Ser324fs, XP_024308666.1:p.Ser238fs, XP_024308686.1:p.Ser324fs, XP_011538894.1:p.Ser211fs, XP_011538897.1:p.Ser113fs, XP_016855702.1:p.Ser324fs, XP_047299690.1:p.Ser324fs, XP_047299754.1:p.Ser324fs, XP_047299732.1:p.Ser324fs, NP_001378886.1:p.Ser307fs, XP_047299699.1:p.Ser324fs, XP_047299730.1:p.Ser324fs, XP_047299746.1:p.Ser324fs, XP_047299757.1:p.Ser324fs, XP_047299693.1:p.Ser307fs, XP_047299802.1:p.Ser238fs, XP_047299791.1:p.Ser13fs, XP_047299803.1:p.Ser307fs

              7.

              rs1488428766 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:15345174 (GRCh38)
                1:15671670 (GRCh37)
                Canonical SPDI:
                NC_000001.11:15345173:T:G
                Gene:
                FHAD1 (Varview), FHAD1-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.15345174T>G, NC_000001.10:g.15671670T>G, XM_011540584.4:c.2273T>G, XM_011540584.3:c.2273T>G, XM_011540584.2:c.2273T>G, XM_011540584.1:c.2273T>G, XM_011540588.4:c.2273T>G, XM_011540588.3:c.2273T>G, XM_011540588.2:c.2273T>G, XM_011540588.1:c.2273T>G, XM_011540581.4:c.2273T>G, XM_011540581.3:c.2273T>G, XM_011540581.2:c.2273T>G, XM_011540581.1:c.2273T>G, XM_011540582.4:c.2273T>G, XM_011540582.3:c.2273T>G, XM_011540582.2:c.2273T>G, XM_011540582.1:c.2273T>G, XM_011540597.4:c.2273T>G, XM_011540597.3:c.2273T>G, XM_011540597.2:c.2273T>G, XM_011540597.1:c.2273T>G, XM_011540598.4:c.2202T>G, XM_011540598.3:c.2202T>G, XM_011540598.2:c.2202T>G, XM_011540598.1:c.2202T>G, XM_017000211.3:c.2273T>G, XM_017000211.2:c.2273T>G, XM_017000211.1:c.2273T>G, XM_017000198.3:c.2273T>G, XM_017000198.2:c.2273T>G, XM_017000198.1:c.2273T>G, XM_011540576.3:c.2273T>G, XM_011540576.2:c.2273T>G, XM_011540576.1:c.2273T>G, XM_011540577.3:c.2222T>G, XM_011540577.2:c.2222T>G, XM_011540577.1:c.2222T>G, XM_017000199.3:c.2273T>G, XM_017000199.2:c.2273T>G, XM_017000199.1:c.2273T>G, XM_017000203.3:c.2273T>G, XM_017000203.2:c.2273T>G, XM_017000203.1:c.2273T>G, XM_017000206.3:c.2273T>G, XM_017000206.2:c.2273T>G, XM_017000206.1:c.2273T>G, XM_017000207.3:c.2036T>G, XM_017000207.2:c.2036T>G, XM_017000207.1:c.2036T>G, XM_017000210.3:c.2273T>G, XM_017000210.2:c.2273T>G, XM_017000210.1:c.2273T>G, XM_017000212.3:c.2273T>G, XM_017000212.2:c.2273T>G, XM_017000212.1:c.2273T>G, XM_011540596.3:c.950T>G, XM_011540596.2:c.1205T>G, XM_011540596.1:c.1205T>G, XM_017000214.3:c.2273T>G, XM_017000214.2:c.2273T>G, XM_017000214.1:c.2273T>G, XM_024452903.2:c.2273T>G, XM_024452903.1:c.2273T>G, XM_024452912.2:c.2273T>G, XM_024452912.1:c.2273T>G, XM_024452887.2:c.2273T>G, XM_024452887.1:c.2273T>G, NM_052929.2:c.2156T>G, NM_052929.1:c.2156T>G, XM_017000200.2:c.2273T>G, XM_017000200.1:c.2273T>G, XM_017000201.2:c.2273T>G, XM_017000201.1:c.2273T>G, XM_017000202.2:c.2165T>G, XM_017000202.1:c.2165T>G, XM_017000205.2:c.2078T>G, XM_017000205.1:c.2078T>G, XM_024452898.2:c.2015T>G, XM_024452898.1:c.2015T>G, XM_024452918.2:c.2207T>G, XM_024452918.1:c.2207T>G, XM_011540592.2:c.1934T>G, XM_011540592.1:c.1934T>G, XM_011540595.2:c.1640T>G, XM_011540595.1:c.1640T>G, XM_017000213.2:c.2273T>G, XM_017000213.1:c.2273T>G, XM_047443734.1:c.2273T>G, XM_047443798.1:c.2273T>G, XM_047443776.1:c.2273T>G, NM_001391921.1:c.2273T>G, NM_001387888.1:c.*2298T>G, NM_001391957.1:c.2222T>G, XM_047443743.1:c.2273T>G, XM_047443774.1:c.2273T>G, XM_047443790.1:c.2273T>G, XM_047443801.1:c.2165T>G, XM_047443737.1:c.2114T>G, XM_047443846.1:c.2015T>G, XM_047443835.1:c.1340T>G, XM_047443847.1:c.2151T>G, XP_011538886.1:p.Leu758Arg, XP_011538890.1:p.Leu758Arg, XP_011538883.1:p.Leu758Arg, XP_011538884.1:p.Leu758Arg, XP_011538899.1:p.Leu758Arg, XP_016855700.1:p.Leu758Arg, XP_016855687.1:p.Leu758Arg, XP_011538878.1:p.Leu758Arg, XP_011538879.1:p.Leu741Arg, XP_016855688.1:p.Leu758Arg, XP_016855692.1:p.Leu758Arg, XP_016855695.1:p.Leu758Arg, XP_016855696.1:p.Leu679Arg, XP_016855699.1:p.Leu758Arg, XP_016855701.1:p.Leu758Arg, XP_011538898.2:p.Leu317Arg, XP_016855703.1:p.Leu758Arg, XP_024308671.1:p.Leu758Arg, XP_024308680.1:p.Leu758Arg, XP_024308655.1:p.Leu758Arg, NP_443161.1:p.Leu719Arg, XP_016855689.1:p.Leu758Arg, XP_016855690.1:p.Leu758Arg, XP_016855691.1:p.Leu722Arg, XP_016855694.1:p.Leu693Arg, XP_024308666.1:p.Leu672Arg, XP_024308686.1:p.Leu736Arg, XP_011538894.1:p.Leu645Arg, XP_011538897.1:p.Leu547Arg, XP_016855702.1:p.Leu758Arg, XP_047299690.1:p.Leu758Arg, XP_047299754.1:p.Leu758Arg, XP_047299732.1:p.Leu758Arg, NP_001378886.1:p.Leu741Arg, XP_047299699.1:p.Leu758Arg, XP_047299730.1:p.Leu758Arg, XP_047299746.1:p.Leu758Arg, XP_047299757.1:p.Leu722Arg, XP_047299693.1:p.Leu705Arg, XP_047299802.1:p.Leu672Arg, XP_047299791.1:p.Leu447Arg

                8.

                rs1487960230 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  1:15327116 (GRCh38)
                  1:15653612 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:15327115:C:A,NC_000001.11:15327115:C:G,NC_000001.11:15327115:C:T
                  Gene:
                  FHAD1 (Varview), FHAD1-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000001.11:g.15327116C>A, NC_000001.11:g.15327116C>G, NC_000001.11:g.15327116C>T, NC_000001.10:g.15653612C>A, NC_000001.10:g.15653612C>G, NC_000001.10:g.15653612C>T, XM_011540584.4:c.1582C>A, XM_011540584.4:c.1582C>G, XM_011540584.4:c.1582C>T, XM_011540584.3:c.1582C>A, XM_011540584.3:c.1582C>G, XM_011540584.3:c.1582C>T, XM_011540584.2:c.1582C>A, XM_011540584.2:c.1582C>G, XM_011540584.2:c.1582C>T, XM_011540584.1:c.1582C>A, XM_011540584.1:c.1582C>G, XM_011540584.1:c.1582C>T, XM_011540588.4:c.1582C>A, XM_011540588.4:c.1582C>G, XM_011540588.4:c.1582C>T, XM_011540588.3:c.1582C>A, XM_011540588.3:c.1582C>G, XM_011540588.3:c.1582C>T, XM_011540588.2:c.1582C>A, XM_011540588.2:c.1582C>G, XM_011540588.2:c.1582C>T, XM_011540588.1:c.1582C>A, XM_011540588.1:c.1582C>G, XM_011540588.1:c.1582C>T, XM_011540581.4:c.1582C>A, XM_011540581.4:c.1582C>G, XM_011540581.4:c.1582C>T, XM_011540581.3:c.1582C>A, XM_011540581.3:c.1582C>G, XM_011540581.3:c.1582C>T, XM_011540581.2:c.1582C>A, XM_011540581.2:c.1582C>G, XM_011540581.2:c.1582C>T, XM_011540581.1:c.1582C>A, XM_011540581.1:c.1582C>G, XM_011540581.1:c.1582C>T, XM_011540582.4:c.1582C>A, XM_011540582.4:c.1582C>G, XM_011540582.4:c.1582C>T, XM_011540582.3:c.1582C>A, XM_011540582.3:c.1582C>G, XM_011540582.3:c.1582C>T, XM_011540582.2:c.1582C>A, XM_011540582.2:c.1582C>G, XM_011540582.2:c.1582C>T, XM_011540582.1:c.1582C>A, XM_011540582.1:c.1582C>G, XM_011540582.1:c.1582C>T, XM_011540597.4:c.1582C>A, XM_011540597.4:c.1582C>G, XM_011540597.4:c.1582C>T, XM_011540597.3:c.1582C>A, XM_011540597.3:c.1582C>G, XM_011540597.3:c.1582C>T, XM_011540597.2:c.1582C>A, XM_011540597.2:c.1582C>G, XM_011540597.2:c.1582C>T, XM_011540597.1:c.1582C>A, XM_011540597.1:c.1582C>G, XM_011540597.1:c.1582C>T, XM_011540598.4:c.1582C>A, XM_011540598.4:c.1582C>G, XM_011540598.4:c.1582C>T, XM_011540598.3:c.1582C>A, XM_011540598.3:c.1582C>G, XM_011540598.3:c.1582C>T, XM_011540598.2:c.1582C>A, XM_011540598.2:c.1582C>G, XM_011540598.2:c.1582C>T, XM_011540598.1:c.1582C>A, XM_011540598.1:c.1582C>G, XM_011540598.1:c.1582C>T, XM_017000211.3:c.1582C>A, XM_017000211.3:c.1582C>G, XM_017000211.3:c.1582C>T, XM_017000211.2:c.1582C>A, XM_017000211.2:c.1582C>G, XM_017000211.2:c.1582C>T, XM_017000211.1:c.1582C>A, XM_017000211.1:c.1582C>G, XM_017000211.1:c.1582C>T, XM_017000198.3:c.1582C>A, XM_017000198.3:c.1582C>G, XM_017000198.3:c.1582C>T, XM_017000198.2:c.1582C>A, XM_017000198.2:c.1582C>G, XM_017000198.2:c.1582C>T, XM_017000198.1:c.1582C>A, XM_017000198.1:c.1582C>G, XM_017000198.1:c.1582C>T, XM_011540576.3:c.1582C>A, XM_011540576.3:c.1582C>G, XM_011540576.3:c.1582C>T, XM_011540576.2:c.1582C>A, XM_011540576.2:c.1582C>G, XM_011540576.2:c.1582C>T, XM_011540576.1:c.1582C>A, XM_011540576.1:c.1582C>G, XM_011540576.1:c.1582C>T, XM_011540577.3:c.1531C>A, XM_011540577.3:c.1531C>G, XM_011540577.3:c.1531C>T, XM_011540577.2:c.1531C>A, XM_011540577.2:c.1531C>G, XM_011540577.2:c.1531C>T, XM_011540577.1:c.1531C>A, XM_011540577.1:c.1531C>G, XM_011540577.1:c.1531C>T, XM_017000199.3:c.1582C>A, XM_017000199.3:c.1582C>G, XM_017000199.3:c.1582C>T, XM_017000199.2:c.1582C>A, XM_017000199.2:c.1582C>G, XM_017000199.2:c.1582C>T, XM_017000199.1:c.1582C>A, XM_017000199.1:c.1582C>G, XM_017000199.1:c.1582C>T, XM_017000203.3:c.1582C>A, XM_017000203.3:c.1582C>G, XM_017000203.3:c.1582C>T, XM_017000203.2:c.1582C>A, XM_017000203.2:c.1582C>G, XM_017000203.2:c.1582C>T, XM_017000203.1:c.1582C>A, XM_017000203.1:c.1582C>G, XM_017000203.1:c.1582C>T, XM_017000206.3:c.1582C>A, XM_017000206.3:c.1582C>G, XM_017000206.3:c.1582C>T, XM_017000206.2:c.1582C>A, XM_017000206.2:c.1582C>G, XM_017000206.2:c.1582C>T, XM_017000206.1:c.1582C>A, XM_017000206.1:c.1582C>G, XM_017000206.1:c.1582C>T, XM_017000207.3:c.1345C>A, XM_017000207.3:c.1345C>G, XM_017000207.3:c.1345C>T, XM_017000207.2:c.1345C>A, XM_017000207.2:c.1345C>G, XM_017000207.2:c.1345C>T, XM_017000207.1:c.1345C>A, XM_017000207.1:c.1345C>G, XM_017000207.1:c.1345C>T, XM_017000210.3:c.1582C>A, XM_017000210.3:c.1582C>G, XM_017000210.3:c.1582C>T, XM_017000210.2:c.1582C>A, XM_017000210.2:c.1582C>G, XM_017000210.2:c.1582C>T, XM_017000210.1:c.1582C>A, XM_017000210.1:c.1582C>G, XM_017000210.1:c.1582C>T, XM_017000212.3:c.1582C>A, XM_017000212.3:c.1582C>G, XM_017000212.3:c.1582C>T, XM_017000212.2:c.1582C>A, XM_017000212.2:c.1582C>G, XM_017000212.2:c.1582C>T, XM_017000212.1:c.1582C>A, XM_017000212.1:c.1582C>G, XM_017000212.1:c.1582C>T, XM_011540596.3:c.259C>A, XM_011540596.3:c.259C>G, XM_011540596.3:c.259C>T, XM_011540596.2:c.514C>A, XM_011540596.2:c.514C>G, XM_011540596.2:c.514C>T, XM_011540596.1:c.514C>A, XM_011540596.1:c.514C>G, XM_011540596.1:c.514C>T, XM_017000214.3:c.1582C>A, XM_017000214.3:c.1582C>G, XM_017000214.3:c.1582C>T, XM_017000214.2:c.1582C>A, XM_017000214.2:c.1582C>G, XM_017000214.2:c.1582C>T, XM_017000214.1:c.1582C>A, XM_017000214.1:c.1582C>G, XM_017000214.1:c.1582C>T, XM_024452903.2:c.1582C>A, XM_024452903.2:c.1582C>G, XM_024452903.2:c.1582C>T, XM_024452903.1:c.1582C>A, XM_024452903.1:c.1582C>G, XM_024452903.1:c.1582C>T, XM_024452912.2:c.1582C>A, XM_024452912.2:c.1582C>G, XM_024452912.2:c.1582C>T, XM_024452912.1:c.1582C>A, XM_024452912.1:c.1582C>G, XM_024452912.1:c.1582C>T, XM_024452887.2:c.1582C>A, XM_024452887.2:c.1582C>G, XM_024452887.2:c.1582C>T, XM_024452887.1:c.1582C>A, XM_024452887.1:c.1582C>G, XM_024452887.1:c.1582C>T, NM_052929.2:c.1531C>A, NM_052929.2:c.1531C>G, NM_052929.2:c.1531C>T, NM_052929.1:c.1531C>A, NM_052929.1:c.1531C>G, NM_052929.1:c.1531C>T, XM_017000200.2:c.1582C>A, XM_017000200.2:c.1582C>G, XM_017000200.2:c.1582C>T, XM_017000200.1:c.1582C>A, XM_017000200.1:c.1582C>G, XM_017000200.1:c.1582C>T, XM_017000201.2:c.1582C>A, XM_017000201.2:c.1582C>G, XM_017000201.2:c.1582C>T, XM_017000201.1:c.1582C>A, XM_017000201.1:c.1582C>G, XM_017000201.1:c.1582C>T, XM_017000202.2:c.1474C>A, XM_017000202.2:c.1474C>G, XM_017000202.2:c.1474C>T, XM_017000202.1:c.1474C>A, XM_017000202.1:c.1474C>G, XM_017000202.1:c.1474C>T, XM_017000205.2:c.1387C>A, XM_017000205.2:c.1387C>G, XM_017000205.2:c.1387C>T, XM_017000205.1:c.1387C>A, XM_017000205.1:c.1387C>G, XM_017000205.1:c.1387C>T, XM_024452898.2:c.1324C>A, XM_024452898.2:c.1324C>G, XM_024452898.2:c.1324C>T, XM_024452898.1:c.1324C>A, XM_024452898.1:c.1324C>G, XM_024452898.1:c.1324C>T, XM_024452918.2:c.1582C>A, XM_024452918.2:c.1582C>G, XM_024452918.2:c.1582C>T, XM_024452918.1:c.1582C>A, XM_024452918.1:c.1582C>G, XM_024452918.1:c.1582C>T, XM_011540592.2:c.1243C>A, XM_011540592.2:c.1243C>G, XM_011540592.2:c.1243C>T, XM_011540592.1:c.1243C>A, XM_011540592.1:c.1243C>G, XM_011540592.1:c.1243C>T, XM_011540595.2:c.949C>A, XM_011540595.2:c.949C>G, XM_011540595.2:c.949C>T, XM_011540595.1:c.949C>A, XM_011540595.1:c.949C>G, XM_011540595.1:c.949C>T, XM_017000213.2:c.1582C>A, XM_017000213.2:c.1582C>G, XM_017000213.2:c.1582C>T, XM_017000213.1:c.1582C>A, XM_017000213.1:c.1582C>G, XM_017000213.1:c.1582C>T, XM_047443734.1:c.1582C>A, XM_047443734.1:c.1582C>G, XM_047443734.1:c.1582C>T, XM_047443798.1:c.1582C>A, XM_047443798.1:c.1582C>G, XM_047443798.1:c.1582C>T, XM_047443776.1:c.1582C>A, XM_047443776.1:c.1582C>G, XM_047443776.1:c.1582C>T, NM_001391921.1:c.1582C>A, NM_001391921.1:c.1582C>G, NM_001391921.1:c.1582C>T, NM_001387888.1:c.*1607C>A, NM_001387888.1:c.*1607C>G, NM_001387888.1:c.*1607C>T, NM_001391957.1:c.1531C>A, NM_001391957.1:c.1531C>G, NM_001391957.1:c.1531C>T, XM_047443743.1:c.1582C>A, XM_047443743.1:c.1582C>G, XM_047443743.1:c.1582C>T, XM_047443774.1:c.1582C>A, XM_047443774.1:c.1582C>G, XM_047443774.1:c.1582C>T, XM_047443790.1:c.1582C>A, XM_047443790.1:c.1582C>G, XM_047443790.1:c.1582C>T, XM_047443801.1:c.1474C>A, XM_047443801.1:c.1474C>G, XM_047443801.1:c.1474C>T, XM_047443737.1:c.1423C>A, XM_047443737.1:c.1423C>G, XM_047443737.1:c.1423C>T, XM_047443846.1:c.1324C>A, XM_047443846.1:c.1324C>G, XM_047443846.1:c.1324C>T, XM_047443835.1:c.649C>A, XM_047443835.1:c.649C>G, XM_047443835.1:c.649C>T, NR_148918.1:n.2676G>T, NR_148918.1:n.2676G>C, NR_148918.1:n.2676G>A, NR_148919.1:n.2673G>T, NR_148919.1:n.2673G>C, NR_148919.1:n.2673G>A, XM_047443847.1:c.1531C>A, XM_047443847.1:c.1531C>G, XM_047443847.1:c.1531C>T, XP_011538886.1:p.Arg528Gly, XP_011538886.1:p.Arg528Trp, XP_011538890.1:p.Arg528Gly, XP_011538890.1:p.Arg528Trp, XP_011538883.1:p.Arg528Gly, XP_011538883.1:p.Arg528Trp, XP_011538884.1:p.Arg528Gly, XP_011538884.1:p.Arg528Trp, XP_011538899.1:p.Arg528Gly, XP_011538899.1:p.Arg528Trp, XP_011538900.1:p.Arg528Gly, XP_011538900.1:p.Arg528Trp, XP_016855700.1:p.Arg528Gly, XP_016855700.1:p.Arg528Trp, XP_016855687.1:p.Arg528Gly, XP_016855687.1:p.Arg528Trp, XP_011538878.1:p.Arg528Gly, XP_011538878.1:p.Arg528Trp, XP_011538879.1:p.Arg511Gly, XP_011538879.1:p.Arg511Trp, XP_016855688.1:p.Arg528Gly, XP_016855688.1:p.Arg528Trp, XP_016855692.1:p.Arg528Gly, XP_016855692.1:p.Arg528Trp, XP_016855695.1:p.Arg528Gly, XP_016855695.1:p.Arg528Trp, XP_016855696.1:p.Arg449Gly, XP_016855696.1:p.Arg449Trp, XP_016855699.1:p.Arg528Gly, XP_016855699.1:p.Arg528Trp, XP_016855701.1:p.Arg528Gly, XP_016855701.1:p.Arg528Trp, XP_011538898.2:p.Arg87Gly, XP_011538898.2:p.Arg87Trp, XP_016855703.1:p.Arg528Gly, XP_016855703.1:p.Arg528Trp, XP_024308671.1:p.Arg528Gly, XP_024308671.1:p.Arg528Trp, XP_024308680.1:p.Arg528Gly, XP_024308680.1:p.Arg528Trp, XP_024308655.1:p.Arg528Gly, XP_024308655.1:p.Arg528Trp, NP_443161.1:p.Arg511Gly, NP_443161.1:p.Arg511Trp, XP_016855689.1:p.Arg528Gly, XP_016855689.1:p.Arg528Trp, XP_016855690.1:p.Arg528Gly, XP_016855690.1:p.Arg528Trp, XP_016855691.1:p.Arg492Gly, XP_016855691.1:p.Arg492Trp, XP_016855694.1:p.Arg463Gly, XP_016855694.1:p.Arg463Trp, XP_024308666.1:p.Arg442Gly, XP_024308666.1:p.Arg442Trp, XP_024308686.1:p.Arg528Gly, XP_024308686.1:p.Arg528Trp, XP_011538894.1:p.Arg415Gly, XP_011538894.1:p.Arg415Trp, XP_011538897.1:p.Arg317Gly, XP_011538897.1:p.Arg317Trp, XP_016855702.1:p.Arg528Gly, XP_016855702.1:p.Arg528Trp, XP_047299690.1:p.Arg528Gly, XP_047299690.1:p.Arg528Trp, XP_047299754.1:p.Arg528Gly, XP_047299754.1:p.Arg528Trp, XP_047299732.1:p.Arg528Gly, XP_047299732.1:p.Arg528Trp, NP_001378886.1:p.Arg511Gly, NP_001378886.1:p.Arg511Trp, XP_047299699.1:p.Arg528Gly, XP_047299699.1:p.Arg528Trp, XP_047299730.1:p.Arg528Gly, XP_047299730.1:p.Arg528Trp, XP_047299746.1:p.Arg528Gly, XP_047299746.1:p.Arg528Trp, XP_047299757.1:p.Arg492Gly, XP_047299757.1:p.Arg492Trp, XP_047299693.1:p.Arg475Gly, XP_047299693.1:p.Arg475Trp, XP_047299802.1:p.Arg442Gly, XP_047299802.1:p.Arg442Trp, XP_047299791.1:p.Arg217Gly, XP_047299791.1:p.Arg217Trp, XP_047299803.1:p.Arg511Gly, XP_047299803.1:p.Arg511Trp

                  9.

                  rs1487316203 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:15251825 (GRCh38)
                    1:15578321 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:15251824:T:G
                    Gene:
                    FHAD1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000019/3 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.15251825T>G, NC_000001.10:g.15578321T>G, XM_011540584.4:c.92T>G, XM_011540584.3:c.92T>G, XM_011540584.2:c.92T>G, XM_011540584.1:c.92T>G, XM_011540588.4:c.92T>G, XM_011540588.3:c.92T>G, XM_011540588.2:c.92T>G, XM_011540588.1:c.92T>G, XM_011540581.4:c.92T>G, XM_011540581.3:c.92T>G, XM_011540581.2:c.92T>G, XM_011540581.1:c.92T>G, XM_011540582.4:c.92T>G, XM_011540582.3:c.92T>G, XM_011540582.2:c.92T>G, XM_011540582.1:c.92T>G, XM_011540597.4:c.92T>G, XM_011540597.3:c.92T>G, XM_011540597.2:c.92T>G, XM_011540597.1:c.92T>G, XM_011540598.4:c.92T>G, XM_011540598.3:c.92T>G, XM_011540598.2:c.92T>G, XM_011540598.1:c.92T>G, XM_017000211.3:c.92T>G, XM_017000211.2:c.92T>G, XM_017000211.1:c.92T>G, XM_017000198.3:c.92T>G, XM_017000198.2:c.92T>G, XM_017000198.1:c.92T>G, XM_011540576.3:c.92T>G, XM_011540576.2:c.92T>G, XM_011540576.1:c.92T>G, XM_011540577.3:c.41T>G, XM_011540577.2:c.41T>G, XM_011540577.1:c.41T>G, XM_017000199.3:c.92T>G, XM_017000199.2:c.92T>G, XM_017000199.1:c.92T>G, XM_017000203.3:c.92T>G, XM_017000203.2:c.92T>G, XM_017000203.1:c.92T>G, XM_017000206.3:c.92T>G, XM_017000206.2:c.92T>G, XM_017000206.1:c.92T>G, XM_017000207.3:c.92T>G, XM_017000207.2:c.92T>G, XM_017000207.1:c.92T>G, XM_017000210.3:c.92T>G, XM_017000210.2:c.92T>G, XM_017000210.1:c.92T>G, XM_017000212.3:c.92T>G, XM_017000212.2:c.92T>G, XM_017000212.1:c.92T>G, XM_017000214.3:c.92T>G, XM_017000214.2:c.92T>G, XM_017000214.1:c.92T>G, XM_024452903.2:c.92T>G, XM_024452903.1:c.92T>G, XM_024452912.2:c.92T>G, XM_024452912.1:c.92T>G, XM_024452887.2:c.92T>G, XM_024452887.1:c.92T>G, NM_052929.2:c.41T>G, NM_052929.1:c.41T>G, XM_017000200.2:c.92T>G, XM_017000200.1:c.92T>G, XM_017000201.2:c.92T>G, XM_017000201.1:c.92T>G, XM_017000202.2:c.92T>G, XM_017000202.1:c.92T>G, XM_017000205.2:c.92T>G, XM_017000205.1:c.92T>G, XM_024452898.2:c.41T>G, XM_024452898.1:c.41T>G, XM_024452918.2:c.92T>G, XM_024452918.1:c.92T>G, XM_017000213.2:c.92T>G, XM_017000213.1:c.92T>G, XM_047443734.1:c.92T>G, XM_047443798.1:c.92T>G, XM_047443776.1:c.92T>G, NM_001391921.1:c.92T>G, NM_001387888.1:c.*117T>G, NM_001391957.1:c.41T>G, XM_047443743.1:c.92T>G, XM_047443774.1:c.92T>G, XM_047443790.1:c.92T>G, XM_047443801.1:c.92T>G, XM_047443737.1:c.41T>G, XM_047443846.1:c.41T>G, XM_047443847.1:c.41T>G, XP_011538886.1:p.Leu31Arg, XP_011538890.1:p.Leu31Arg, XP_011538883.1:p.Leu31Arg, XP_011538884.1:p.Leu31Arg, XP_011538899.1:p.Leu31Arg, XP_011538900.1:p.Leu31Arg, XP_016855700.1:p.Leu31Arg, XP_016855687.1:p.Leu31Arg, XP_011538878.1:p.Leu31Arg, XP_011538879.1:p.Leu14Arg, XP_016855688.1:p.Leu31Arg, XP_016855692.1:p.Leu31Arg, XP_016855695.1:p.Leu31Arg, XP_016855696.1:p.Leu31Arg, XP_016855699.1:p.Leu31Arg, XP_016855701.1:p.Leu31Arg, XP_016855703.1:p.Leu31Arg, XP_024308671.1:p.Leu31Arg, XP_024308680.1:p.Leu31Arg, XP_024308655.1:p.Leu31Arg, NP_443161.1:p.Leu14Arg, XP_016855689.1:p.Leu31Arg, XP_016855690.1:p.Leu31Arg, XP_016855691.1:p.Leu31Arg, XP_016855694.1:p.Leu31Arg, XP_024308666.1:p.Leu14Arg, XP_024308686.1:p.Leu31Arg, XP_016855702.1:p.Leu31Arg, XP_047299690.1:p.Leu31Arg, XP_047299754.1:p.Leu31Arg, XP_047299732.1:p.Leu31Arg, NP_001378886.1:p.Leu14Arg, XP_047299699.1:p.Leu31Arg, XP_047299730.1:p.Leu31Arg, XP_047299746.1:p.Leu31Arg, XP_047299757.1:p.Leu31Arg, XP_047299693.1:p.Leu14Arg, XP_047299802.1:p.Leu14Arg, XP_047299803.1:p.Leu14Arg

                    10.

                    rs1486981236 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:15329388 (GRCh38)
                      1:15655884 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:15329387:G:A
                      Gene:
                      FHAD1 (Varview), FHAD1-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000006/1 (GnomAD_exomes)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.15329388G>A, NC_000001.10:g.15655884G>A, XM_011540584.4:c.1804G>A, XM_011540584.3:c.1804G>A, XM_011540584.2:c.1804G>A, XM_011540584.1:c.1804G>A, XM_011540588.4:c.1804G>A, XM_011540588.3:c.1804G>A, XM_011540588.2:c.1804G>A, XM_011540588.1:c.1804G>A, XM_011540581.4:c.1804G>A, XM_011540581.3:c.1804G>A, XM_011540581.2:c.1804G>A, XM_011540581.1:c.1804G>A, XM_011540582.4:c.1804G>A, XM_011540582.3:c.1804G>A, XM_011540582.2:c.1804G>A, XM_011540582.1:c.1804G>A, XM_011540597.4:c.1804G>A, XM_011540597.3:c.1804G>A, XM_011540597.2:c.1804G>A, XM_011540597.1:c.1804G>A, XM_011540598.4:c.1804G>A, XM_011540598.3:c.1804G>A, XM_011540598.2:c.1804G>A, XM_011540598.1:c.1804G>A, XM_017000211.3:c.1804G>A, XM_017000211.2:c.1804G>A, XM_017000211.1:c.1804G>A, XM_017000198.3:c.1804G>A, XM_017000198.2:c.1804G>A, XM_017000198.1:c.1804G>A, XM_011540576.3:c.1804G>A, XM_011540576.2:c.1804G>A, XM_011540576.1:c.1804G>A, XM_011540577.3:c.1753G>A, XM_011540577.2:c.1753G>A, XM_011540577.1:c.1753G>A, XM_017000199.3:c.1804G>A, XM_017000199.2:c.1804G>A, XM_017000199.1:c.1804G>A, XM_017000203.3:c.1804G>A, XM_017000203.2:c.1804G>A, XM_017000203.1:c.1804G>A, XM_017000206.3:c.1804G>A, XM_017000206.2:c.1804G>A, XM_017000206.1:c.1804G>A, XM_017000207.3:c.1567G>A, XM_017000207.2:c.1567G>A, XM_017000207.1:c.1567G>A, XM_017000210.3:c.1804G>A, XM_017000210.2:c.1804G>A, XM_017000210.1:c.1804G>A, XM_017000212.3:c.1804G>A, XM_017000212.2:c.1804G>A, XM_017000212.1:c.1804G>A, XM_011540596.3:c.481G>A, XM_011540596.2:c.736G>A, XM_011540596.1:c.736G>A, XM_017000214.3:c.1804G>A, XM_017000214.2:c.1804G>A, XM_017000214.1:c.1804G>A, XM_024452903.2:c.1804G>A, XM_024452903.1:c.1804G>A, XM_024452912.2:c.1804G>A, XM_024452912.1:c.1804G>A, XM_024452887.2:c.1804G>A, XM_024452887.1:c.1804G>A, NM_052929.2:c.1753G>A, NM_052929.1:c.1753G>A, XM_017000200.2:c.1804G>A, XM_017000200.1:c.1804G>A, XM_017000201.2:c.1804G>A, XM_017000201.1:c.1804G>A, XM_017000202.2:c.1696G>A, XM_017000202.1:c.1696G>A, XM_017000205.2:c.1609G>A, XM_017000205.1:c.1609G>A, XM_024452898.2:c.1546G>A, XM_024452898.1:c.1546G>A, XM_024452918.2:c.1804G>A, XM_024452918.1:c.1804G>A, XM_011540592.2:c.1465G>A, XM_011540592.1:c.1465G>A, XM_011540595.2:c.1171G>A, XM_011540595.1:c.1171G>A, XM_017000213.2:c.1804G>A, XM_017000213.1:c.1804G>A, XM_047443734.1:c.1804G>A, XM_047443798.1:c.1804G>A, XM_047443776.1:c.1804G>A, NM_001391921.1:c.1804G>A, NM_001387888.1:c.*1829G>A, NM_001391957.1:c.1753G>A, XM_047443743.1:c.1804G>A, XM_047443774.1:c.1804G>A, XM_047443790.1:c.1804G>A, XM_047443801.1:c.1696G>A, XM_047443737.1:c.1645G>A, XM_047443846.1:c.1546G>A, XM_047443835.1:c.871G>A, NR_148918.1:n.404C>T, NR_148919.1:n.401C>T, XM_047443847.1:c.1753G>A, XP_011538886.1:p.Glu602Lys, XP_011538890.1:p.Glu602Lys, XP_011538883.1:p.Glu602Lys, XP_011538884.1:p.Glu602Lys, XP_011538899.1:p.Glu602Lys, XP_011538900.1:p.Glu602Lys, XP_016855700.1:p.Glu602Lys, XP_016855687.1:p.Glu602Lys, XP_011538878.1:p.Glu602Lys, XP_011538879.1:p.Glu585Lys, XP_016855688.1:p.Glu602Lys, XP_016855692.1:p.Glu602Lys, XP_016855695.1:p.Glu602Lys, XP_016855696.1:p.Glu523Lys, XP_016855699.1:p.Glu602Lys, XP_016855701.1:p.Glu602Lys, XP_011538898.2:p.Glu161Lys, XP_016855703.1:p.Glu602Lys, XP_024308671.1:p.Glu602Lys, XP_024308680.1:p.Glu602Lys, XP_024308655.1:p.Glu602Lys, NP_443161.1:p.Glu585Lys, XP_016855689.1:p.Glu602Lys, XP_016855690.1:p.Glu602Lys, XP_016855691.1:p.Glu566Lys, XP_016855694.1:p.Glu537Lys, XP_024308666.1:p.Glu516Lys, XP_024308686.1:p.Glu602Lys, XP_011538894.1:p.Glu489Lys, XP_011538897.1:p.Glu391Lys, XP_016855702.1:p.Glu602Lys, XP_047299690.1:p.Glu602Lys, XP_047299754.1:p.Glu602Lys, XP_047299732.1:p.Glu602Lys, NP_001378886.1:p.Glu585Lys, XP_047299699.1:p.Glu602Lys, XP_047299730.1:p.Glu602Lys, XP_047299746.1:p.Glu602Lys, XP_047299757.1:p.Glu566Lys, XP_047299693.1:p.Glu549Lys, XP_047299802.1:p.Glu516Lys, XP_047299791.1:p.Glu291Lys, XP_047299803.1:p.Glu585Lys

                      11.

                      rs1486469222 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        1:15296743 (GRCh38)
                        1:15623239 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:15296742:G:T
                        Gene:
                        FHAD1 (Varview)
                        Functional Consequence:
                        missense_variant,genic_upstream_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_000001.11:g.15296743G>T, NC_000001.10:g.15623239G>T, XM_011540584.4:c.679G>T, XM_011540584.3:c.679G>T, XM_011540584.2:c.679G>T, XM_011540584.1:c.679G>T, XM_011540588.4:c.679G>T, XM_011540588.3:c.679G>T, XM_011540588.2:c.679G>T, XM_011540588.1:c.679G>T, XM_011540581.4:c.679G>T, XM_011540581.3:c.679G>T, XM_011540581.2:c.679G>T, XM_011540581.1:c.679G>T, XM_011540582.4:c.679G>T, XM_011540582.3:c.679G>T, XM_011540582.2:c.679G>T, XM_011540582.1:c.679G>T, XM_011540597.4:c.679G>T, XM_011540597.3:c.679G>T, XM_011540597.2:c.679G>T, XM_011540597.1:c.679G>T, XM_011540598.4:c.679G>T, XM_011540598.3:c.679G>T, XM_011540598.2:c.679G>T, XM_011540598.1:c.679G>T, XM_017000211.3:c.679G>T, XM_017000211.2:c.679G>T, XM_017000211.1:c.679G>T, XM_017000198.3:c.679G>T, XM_017000198.2:c.679G>T, XM_017000198.1:c.679G>T, XM_011540576.3:c.679G>T, XM_011540576.2:c.679G>T, XM_011540576.1:c.679G>T, XM_011540577.3:c.628G>T, XM_011540577.2:c.628G>T, XM_011540577.1:c.628G>T, XM_017000199.3:c.679G>T, XM_017000199.2:c.679G>T, XM_017000199.1:c.679G>T, XM_017000203.3:c.679G>T, XM_017000203.2:c.679G>T, XM_017000203.1:c.679G>T, XM_017000206.3:c.679G>T, XM_017000206.2:c.679G>T, XM_017000206.1:c.679G>T, XM_017000207.3:c.679G>T, XM_017000207.2:c.679G>T, XM_017000207.1:c.679G>T, XM_017000210.3:c.679G>T, XM_017000210.2:c.679G>T, XM_017000210.1:c.679G>T, XM_017000212.3:c.679G>T, XM_017000212.2:c.679G>T, XM_017000212.1:c.679G>T, XM_017000214.3:c.679G>T, XM_017000214.2:c.679G>T, XM_017000214.1:c.679G>T, XM_024452903.2:c.679G>T, XM_024452903.1:c.679G>T, XM_024452912.2:c.679G>T, XM_024452912.1:c.679G>T, XM_024452887.2:c.679G>T, XM_024452887.1:c.679G>T, NM_052929.2:c.628G>T, NM_052929.1:c.628G>T, XM_017000200.2:c.679G>T, XM_017000200.1:c.679G>T, XM_017000201.2:c.679G>T, XM_017000201.1:c.679G>T, XM_017000202.2:c.679G>T, XM_017000202.1:c.679G>T, XM_017000205.2:c.679G>T, XM_017000205.1:c.679G>T, XM_024452898.2:c.421G>T, XM_024452898.1:c.421G>T, XM_024452918.2:c.679G>T, XM_024452918.1:c.679G>T, XM_011540592.2:c.340G>T, XM_011540592.1:c.340G>T, XM_011540595.2:c.46G>T, XM_011540595.1:c.46G>T, XM_017000213.2:c.679G>T, XM_017000213.1:c.679G>T, XM_047443734.1:c.679G>T, XM_047443798.1:c.679G>T, XM_047443776.1:c.679G>T, NM_001391921.1:c.679G>T, NM_001387888.1:c.*704G>T, NM_001391957.1:c.628G>T, XM_047443743.1:c.679G>T, XM_047443774.1:c.679G>T, XM_047443790.1:c.679G>T, XM_047443801.1:c.679G>T, XM_047443737.1:c.628G>T, XM_047443846.1:c.421G>T, XM_047443847.1:c.628G>T, XP_011538886.1:p.Val227Phe, XP_011538890.1:p.Val227Phe, XP_011538883.1:p.Val227Phe, XP_011538884.1:p.Val227Phe, XP_011538899.1:p.Val227Phe, XP_011538900.1:p.Val227Phe, XP_016855700.1:p.Val227Phe, XP_016855687.1:p.Val227Phe, XP_011538878.1:p.Val227Phe, XP_011538879.1:p.Val210Phe, XP_016855688.1:p.Val227Phe, XP_016855692.1:p.Val227Phe, XP_016855695.1:p.Val227Phe, XP_016855696.1:p.Val227Phe, XP_016855699.1:p.Val227Phe, XP_016855701.1:p.Val227Phe, XP_016855703.1:p.Val227Phe, XP_024308671.1:p.Val227Phe, XP_024308680.1:p.Val227Phe, XP_024308655.1:p.Val227Phe, NP_443161.1:p.Val210Phe, XP_016855689.1:p.Val227Phe, XP_016855690.1:p.Val227Phe, XP_016855691.1:p.Val227Phe, XP_016855694.1:p.Val227Phe, XP_024308666.1:p.Val141Phe, XP_024308686.1:p.Val227Phe, XP_011538894.1:p.Val114Phe, XP_011538897.1:p.Val16Phe, XP_016855702.1:p.Val227Phe, XP_047299690.1:p.Val227Phe, XP_047299754.1:p.Val227Phe, XP_047299732.1:p.Val227Phe, NP_001378886.1:p.Val210Phe, XP_047299699.1:p.Val227Phe, XP_047299730.1:p.Val227Phe, XP_047299746.1:p.Val227Phe, XP_047299757.1:p.Val227Phe, XP_047299693.1:p.Val210Phe, XP_047299802.1:p.Val141Phe, XP_047299803.1:p.Val210Phe

                        12.

                        rs1486027289 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:15341800 (GRCh38)
                          1:15668296 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:15341799:T:C
                          Gene:
                          FHAD1 (Varview), FHAD1-AS1 (Varview), LOC124903851 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000006/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.15341800T>C, NC_000001.10:g.15668296T>C, XM_011540584.4:c.2093T>C, XM_011540584.3:c.2093T>C, XM_011540584.2:c.2093T>C, XM_011540584.1:c.2093T>C, XM_011540588.4:c.2093T>C, XM_011540588.3:c.2093T>C, XM_011540588.2:c.2093T>C, XM_011540588.1:c.2093T>C, XM_011540581.4:c.2093T>C, XM_011540581.3:c.2093T>C, XM_011540581.2:c.2093T>C, XM_011540581.1:c.2093T>C, XM_011540582.4:c.2093T>C, XM_011540582.3:c.2093T>C, XM_011540582.2:c.2093T>C, XM_011540582.1:c.2093T>C, XM_011540597.4:c.2093T>C, XM_011540597.3:c.2093T>C, XM_011540597.2:c.2093T>C, XM_011540597.1:c.2093T>C, XM_011540598.4:c.2022T>C, XM_011540598.3:c.2022T>C, XM_011540598.2:c.2022T>C, XM_011540598.1:c.2022T>C, XM_017000211.3:c.2093T>C, XM_017000211.2:c.2093T>C, XM_017000211.1:c.2093T>C, XM_017000198.3:c.2093T>C, XM_017000198.2:c.2093T>C, XM_017000198.1:c.2093T>C, XM_011540576.3:c.2093T>C, XM_011540576.2:c.2093T>C, XM_011540576.1:c.2093T>C, XM_011540577.3:c.2042T>C, XM_011540577.2:c.2042T>C, XM_011540577.1:c.2042T>C, XM_017000199.3:c.2093T>C, XM_017000199.2:c.2093T>C, XM_017000199.1:c.2093T>C, XM_017000203.3:c.2093T>C, XM_017000203.2:c.2093T>C, XM_017000203.1:c.2093T>C, XM_017000206.3:c.2093T>C, XM_017000206.2:c.2093T>C, XM_017000206.1:c.2093T>C, XM_017000207.3:c.1856T>C, XM_017000207.2:c.1856T>C, XM_017000207.1:c.1856T>C, XM_017000210.3:c.2093T>C, XM_017000210.2:c.2093T>C, XM_017000210.1:c.2093T>C, XM_017000212.3:c.2093T>C, XM_017000212.2:c.2093T>C, XM_017000212.1:c.2093T>C, XM_011540596.3:c.770T>C, XM_011540596.2:c.1025T>C, XM_011540596.1:c.1025T>C, XM_017000214.3:c.2093T>C, XM_017000214.2:c.2093T>C, XM_017000214.1:c.2093T>C, XM_024452903.2:c.2093T>C, XM_024452903.1:c.2093T>C, XM_024452912.2:c.2093T>C, XM_024452912.1:c.2093T>C, XM_024452887.2:c.2093T>C, XM_024452887.1:c.2093T>C, NM_052929.2:c.1971T>C, NM_052929.1:c.1971T>C, XM_017000200.2:c.2093T>C, XM_017000200.1:c.2093T>C, XM_017000201.2:c.2093T>C, XM_017000201.1:c.2093T>C, XM_017000202.2:c.1985T>C, XM_017000202.1:c.1985T>C, XM_017000205.2:c.1898T>C, XM_017000205.1:c.1898T>C, XM_024452898.2:c.1835T>C, XM_024452898.1:c.1835T>C, XM_024452918.2:c.2022T>C, XM_024452918.1:c.2022T>C, XM_011540592.2:c.1754T>C, XM_011540592.1:c.1754T>C, XM_011540595.2:c.1460T>C, XM_011540595.1:c.1460T>C, XM_017000213.2:c.2093T>C, XM_017000213.1:c.2093T>C, XM_047443734.1:c.2093T>C, XM_047443798.1:c.2093T>C, XM_047443776.1:c.2093T>C, NM_001391921.1:c.2093T>C, NM_001387888.1:c.*2118T>C, NM_001391957.1:c.2042T>C, XM_047443743.1:c.2093T>C, XM_047443774.1:c.2093T>C, XM_047443790.1:c.2093T>C, XM_047443801.1:c.1985T>C, XM_047443737.1:c.1934T>C, XM_047443846.1:c.1835T>C, XM_047443835.1:c.1160T>C, XM_047443847.1:c.1971T>C, XP_011538886.1:p.Leu698Pro, XP_011538890.1:p.Leu698Pro, XP_011538883.1:p.Leu698Pro, XP_011538884.1:p.Leu698Pro, XP_011538899.1:p.Leu698Pro, XP_016855700.1:p.Leu698Pro, XP_016855687.1:p.Leu698Pro, XP_011538878.1:p.Leu698Pro, XP_011538879.1:p.Leu681Pro, XP_016855688.1:p.Leu698Pro, XP_016855692.1:p.Leu698Pro, XP_016855695.1:p.Leu698Pro, XP_016855696.1:p.Leu619Pro, XP_016855699.1:p.Leu698Pro, XP_016855701.1:p.Leu698Pro, XP_011538898.2:p.Leu257Pro, XP_016855703.1:p.Leu698Pro, XP_024308671.1:p.Leu698Pro, XP_024308680.1:p.Leu698Pro, XP_024308655.1:p.Leu698Pro, XP_016855689.1:p.Leu698Pro, XP_016855690.1:p.Leu698Pro, XP_016855691.1:p.Leu662Pro, XP_016855694.1:p.Leu633Pro, XP_024308666.1:p.Leu612Pro, XP_011538894.1:p.Leu585Pro, XP_011538897.1:p.Leu487Pro, XP_016855702.1:p.Leu698Pro, XP_047299690.1:p.Leu698Pro, XP_047299754.1:p.Leu698Pro, XP_047299732.1:p.Leu698Pro, NP_001378886.1:p.Leu681Pro, XP_047299699.1:p.Leu698Pro, XP_047299730.1:p.Leu698Pro, XP_047299746.1:p.Leu698Pro, XP_047299757.1:p.Leu662Pro, XP_047299693.1:p.Leu645Pro, XP_047299802.1:p.Leu612Pro, XP_047299791.1:p.Leu387Pro

                          13.

                          rs1484514393 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            1:15360690 (GRCh38)
                            1:15687186 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:15360689:GG:G
                            Gene:
                            FHAD1 (Varview)
                            Functional Consequence:
                            frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GG=0./0 (ALFA)
                            -=0./0 (GnomAD)
                            -=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.15360691del, NC_000001.10:g.15687187del, XM_011540584.4:c.3001del, XM_011540584.3:c.3001del, XM_011540584.2:c.3001del, XM_011540584.1:c.3001del, XM_011540588.4:c.3001del, XM_011540588.3:c.3001del, XM_011540588.2:c.3001del, XM_011540588.1:c.3001del, XM_011540581.4:c.3001del, XM_011540581.3:c.3001del, XM_011540581.2:c.3001del, XM_011540581.1:c.3001del, XM_011540582.4:c.3001del, XM_011540582.3:c.3001del, XM_011540582.2:c.3001del, XM_011540582.1:c.3001del, XM_011540597.4:c.3001del, XM_011540597.3:c.3001del, XM_011540597.2:c.3001del, XM_011540597.1:c.3001del, XM_017000211.3:c.2893del, XM_017000211.2:c.2893del, XM_017000211.1:c.2893del, XM_017000198.3:c.3001del, XM_017000198.2:c.3001del, XM_017000198.1:c.3001del, XM_011540576.3:c.3001del, XM_011540576.2:c.3001del, XM_011540576.1:c.3001del, XM_011540577.3:c.2950del, XM_011540577.2:c.2950del, XM_011540577.1:c.2950del, XM_017000199.3:c.3001del, XM_017000199.2:c.3001del, XM_017000199.1:c.3001del, XM_017000203.3:c.3001del, XM_017000203.2:c.3001del, XM_017000203.1:c.3001del, XM_017000206.3:c.3001del, XM_017000206.2:c.3001del, XM_017000206.1:c.3001del, XM_017000207.3:c.2764del, XM_017000207.2:c.2764del, XM_017000207.1:c.2764del, XM_017000210.3:c.3001del, XM_017000210.2:c.3001del, XM_017000210.1:c.3001del, XM_017000212.3:c.3001del, XM_017000212.2:c.3001del, XM_017000212.1:c.3001del, XM_011540596.3:c.1678del, XM_011540596.2:c.1933del, XM_011540596.1:c.1933del, XM_017000214.3:c.3001del, XM_017000214.2:c.3001del, XM_017000214.1:c.3001del, XM_024452903.2:c.3001del, XM_024452903.1:c.3001del, XM_024452912.2:c.3001del, XM_024452912.1:c.3001del, XM_024452887.2:c.3001del, XM_024452887.1:c.3001del, NM_052929.2:c.2884del, NM_052929.1:c.2884del, XM_017000200.2:c.3001del, XM_017000200.1:c.3001del, XM_017000201.2:c.3001del, XM_017000201.1:c.3001del, XM_017000202.2:c.2893del, XM_017000202.1:c.2893del, XM_017000205.2:c.2806del, XM_017000205.1:c.2806del, XM_024452898.2:c.2743del, XM_024452898.1:c.2743del, XM_024452918.2:c.2935del, XM_024452918.1:c.2935del, XM_011540592.2:c.2662del, XM_011540592.1:c.2662del, XM_011540595.2:c.2368del, XM_011540595.1:c.2368del, XM_017000213.2:c.3001del, XM_017000213.1:c.3001del, XM_047443734.1:c.3001del, XM_047443798.1:c.3001del, XM_047443776.1:c.3001del, NM_001391921.1:c.3001del, NM_001387888.1:c.*3026del, NM_001391957.1:c.2950del, XM_047443743.1:c.3001del, XM_047443774.1:c.3001del, XM_047443790.1:c.2893del, XM_047443801.1:c.2893del, XM_047443737.1:c.2842del, XM_047443835.1:c.2068del, XP_011538886.1:p.Asp1001fs, XP_011538890.1:p.Asp1001fs, XP_011538883.1:p.Asp1001fs, XP_011538884.1:p.Asp1001fs, XP_011538899.1:p.Asp1001fs, XP_016855700.1:p.Asp965fs, XP_016855687.1:p.Asp1001fs, XP_011538878.1:p.Asp1001fs, XP_011538879.1:p.Asp984fs, XP_016855688.1:p.Asp1001fs, XP_016855692.1:p.Asp1001fs, XP_016855695.1:p.Asp1001fs, XP_016855696.1:p.Asp922fs, XP_016855699.1:p.Asp1001fs, XP_016855701.1:p.Asp1001fs, XP_011538898.2:p.Asp560fs, XP_016855703.1:p.Asp1001fs, XP_024308671.1:p.Asp1001fs, XP_024308680.1:p.Asp1001fs, XP_024308655.1:p.Asp1001fs, NP_443161.1:p.Asp962fs, XP_016855689.1:p.Asp1001fs, XP_016855690.1:p.Asp1001fs, XP_016855691.1:p.Asp965fs, XP_016855694.1:p.Asp936fs, XP_024308666.1:p.Asp915fs, XP_024308686.1:p.Asp979fs, XP_011538894.1:p.Asp888fs, XP_011538897.1:p.Asp790fs, XP_016855702.1:p.Asp1001fs, XP_047299690.1:p.Asp1001fs, XP_047299754.1:p.Asp1001fs, XP_047299732.1:p.Asp1001fs, NP_001378886.1:p.Asp984fs, XP_047299699.1:p.Asp1001fs, XP_047299730.1:p.Asp1001fs, XP_047299746.1:p.Asp965fs, XP_047299757.1:p.Asp965fs, XP_047299693.1:p.Asp948fs, XP_047299791.1:p.Asp690fs

                            14.

                            rs1484424786 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              1:15349133 (GRCh38)
                              1:15675629 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:15349132:T:C,NC_000001.11:15349132:T:G
                              Gene:
                              FHAD1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,stop_gained,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              C=0./0 (GnomAD)
                              G=0.000004/1 (TOPMED)
                              C=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.15349133T>C, NC_000001.11:g.15349133T>G, NC_000001.10:g.15675629T>C, NC_000001.10:g.15675629T>G, XM_011540584.4:c.2489T>C, XM_011540584.4:c.2489T>G, XM_011540584.3:c.2489T>C, XM_011540584.3:c.2489T>G, XM_011540584.2:c.2489T>C, XM_011540584.2:c.2489T>G, XM_011540584.1:c.2489T>C, XM_011540584.1:c.2489T>G, XM_011540588.4:c.2489T>C, XM_011540588.4:c.2489T>G, XM_011540588.3:c.2489T>C, XM_011540588.3:c.2489T>G, XM_011540588.2:c.2489T>C, XM_011540588.2:c.2489T>G, XM_011540588.1:c.2489T>C, XM_011540588.1:c.2489T>G, XM_011540581.4:c.2489T>C, XM_011540581.4:c.2489T>G, XM_011540581.3:c.2489T>C, XM_011540581.3:c.2489T>G, XM_011540581.2:c.2489T>C, XM_011540581.2:c.2489T>G, XM_011540581.1:c.2489T>C, XM_011540581.1:c.2489T>G, XM_011540582.4:c.2489T>C, XM_011540582.4:c.2489T>G, XM_011540582.3:c.2489T>C, XM_011540582.3:c.2489T>G, XM_011540582.2:c.2489T>C, XM_011540582.2:c.2489T>G, XM_011540582.1:c.2489T>C, XM_011540582.1:c.2489T>G, XM_011540597.4:c.2489T>C, XM_011540597.4:c.2489T>G, XM_011540597.3:c.2489T>C, XM_011540597.3:c.2489T>G, XM_011540597.2:c.2489T>C, XM_011540597.2:c.2489T>G, XM_011540597.1:c.2489T>C, XM_011540597.1:c.2489T>G, XM_011540598.4:c.*66T>C, XM_011540598.4:c.*66T>G, XM_011540598.3:c.*66T>C, XM_011540598.3:c.*66T>G, XM_011540598.2:c.*66T>C, XM_011540598.2:c.*66T>G, XM_011540598.1:c.*66T>C, XM_011540598.1:c.*66T>G, XM_017000198.3:c.2489T>C, XM_017000198.3:c.2489T>G, XM_017000198.2:c.2489T>C, XM_017000198.2:c.2489T>G, XM_017000198.1:c.2489T>C, XM_017000198.1:c.2489T>G, XM_011540576.3:c.2489T>C, XM_011540576.3:c.2489T>G, XM_011540576.2:c.2489T>C, XM_011540576.2:c.2489T>G, XM_011540576.1:c.2489T>C, XM_011540576.1:c.2489T>G, XM_011540577.3:c.2438T>C, XM_011540577.3:c.2438T>G, XM_011540577.2:c.2438T>C, XM_011540577.2:c.2438T>G, XM_011540577.1:c.2438T>C, XM_011540577.1:c.2438T>G, XM_017000199.3:c.2489T>C, XM_017000199.3:c.2489T>G, XM_017000199.2:c.2489T>C, XM_017000199.2:c.2489T>G, XM_017000199.1:c.2489T>C, XM_017000199.1:c.2489T>G, XM_017000203.3:c.2489T>C, XM_017000203.3:c.2489T>G, XM_017000203.2:c.2489T>C, XM_017000203.2:c.2489T>G, XM_017000203.1:c.2489T>C, XM_017000203.1:c.2489T>G, XM_017000206.3:c.2489T>C, XM_017000206.3:c.2489T>G, XM_017000206.2:c.2489T>C, XM_017000206.2:c.2489T>G, XM_017000206.1:c.2489T>C, XM_017000206.1:c.2489T>G, XM_017000207.3:c.2252T>C, XM_017000207.3:c.2252T>G, XM_017000207.2:c.2252T>C, XM_017000207.2:c.2252T>G, XM_017000207.1:c.2252T>C, XM_017000207.1:c.2252T>G, XM_017000210.3:c.2489T>C, XM_017000210.3:c.2489T>G, XM_017000210.2:c.2489T>C, XM_017000210.2:c.2489T>G, XM_017000210.1:c.2489T>C, XM_017000210.1:c.2489T>G, XM_017000212.3:c.2489T>C, XM_017000212.3:c.2489T>G, XM_017000212.2:c.2489T>C, XM_017000212.2:c.2489T>G, XM_017000212.1:c.2489T>C, XM_017000212.1:c.2489T>G, XM_011540596.3:c.1166T>C, XM_011540596.3:c.1166T>G, XM_011540596.2:c.1421T>C, XM_011540596.2:c.1421T>G, XM_011540596.1:c.1421T>C, XM_011540596.1:c.1421T>G, XM_017000214.3:c.2489T>C, XM_017000214.3:c.2489T>G, XM_017000214.2:c.2489T>C, XM_017000214.2:c.2489T>G, XM_017000214.1:c.2489T>C, XM_017000214.1:c.2489T>G, XM_024452903.2:c.2489T>C, XM_024452903.2:c.2489T>G, XM_024452903.1:c.2489T>C, XM_024452903.1:c.2489T>G, XM_024452912.2:c.2489T>C, XM_024452912.2:c.2489T>G, XM_024452912.1:c.2489T>C, XM_024452912.1:c.2489T>G, XM_024452887.2:c.2489T>C, XM_024452887.2:c.2489T>G, XM_024452887.1:c.2489T>C, XM_024452887.1:c.2489T>G, NM_052929.2:c.2372T>C, NM_052929.2:c.2372T>G, NM_052929.1:c.2372T>C, NM_052929.1:c.2372T>G, XM_017000200.2:c.2489T>C, XM_017000200.2:c.2489T>G, XM_017000200.1:c.2489T>C, XM_017000200.1:c.2489T>G, XM_017000201.2:c.2489T>C, XM_017000201.2:c.2489T>G, XM_017000201.1:c.2489T>C, XM_017000201.1:c.2489T>G, XM_017000202.2:c.2381T>C, XM_017000202.2:c.2381T>G, XM_017000202.1:c.2381T>C, XM_017000202.1:c.2381T>G, XM_017000205.2:c.2294T>C, XM_017000205.2:c.2294T>G, XM_017000205.1:c.2294T>C, XM_017000205.1:c.2294T>G, XM_024452898.2:c.2231T>C, XM_024452898.2:c.2231T>G, XM_024452898.1:c.2231T>C, XM_024452898.1:c.2231T>G, XM_024452918.2:c.2423T>C, XM_024452918.2:c.2423T>G, XM_024452918.1:c.2423T>C, XM_024452918.1:c.2423T>G, XM_011540592.2:c.2150T>C, XM_011540592.2:c.2150T>G, XM_011540592.1:c.2150T>C, XM_011540592.1:c.2150T>G, XM_011540595.2:c.1856T>C, XM_011540595.2:c.1856T>G, XM_011540595.1:c.1856T>C, XM_011540595.1:c.1856T>G, XM_017000213.2:c.2489T>C, XM_017000213.2:c.2489T>G, XM_017000213.1:c.2489T>C, XM_017000213.1:c.2489T>G, XM_047443734.1:c.2489T>C, XM_047443734.1:c.2489T>G, XM_047443798.1:c.2489T>C, XM_047443798.1:c.2489T>G, XM_047443776.1:c.2489T>C, XM_047443776.1:c.2489T>G, NM_001391921.1:c.2489T>C, NM_001391921.1:c.2489T>G, NM_001387888.1:c.*2514T>C, NM_001387888.1:c.*2514T>G, NM_001391957.1:c.2438T>C, NM_001391957.1:c.2438T>G, XM_047443743.1:c.2489T>C, XM_047443743.1:c.2489T>G, XM_047443774.1:c.2489T>C, XM_047443774.1:c.2489T>G, XM_047443801.1:c.2381T>C, XM_047443801.1:c.2381T>G, XM_047443737.1:c.2330T>C, XM_047443737.1:c.2330T>G, XM_047443835.1:c.1556T>C, XM_047443835.1:c.1556T>G, XM_047443847.1:c.*66T>C, XM_047443847.1:c.*66T>G, XP_011538886.1:p.Leu830Ser, XP_011538886.1:p.Leu830Ter, XP_011538890.1:p.Leu830Ser, XP_011538890.1:p.Leu830Ter, XP_011538883.1:p.Leu830Ser, XP_011538883.1:p.Leu830Ter, XP_011538884.1:p.Leu830Ser, XP_011538884.1:p.Leu830Ter, XP_011538899.1:p.Leu830Ser, XP_011538899.1:p.Leu830Ter, XP_016855687.1:p.Leu830Ser, XP_016855687.1:p.Leu830Ter, XP_011538878.1:p.Leu830Ser, XP_011538878.1:p.Leu830Ter, XP_011538879.1:p.Leu813Ser, XP_011538879.1:p.Leu813Ter, XP_016855688.1:p.Leu830Ser, XP_016855688.1:p.Leu830Ter, XP_016855692.1:p.Leu830Ser, XP_016855692.1:p.Leu830Ter, XP_016855695.1:p.Leu830Ser, XP_016855695.1:p.Leu830Ter, XP_016855696.1:p.Leu751Ser, XP_016855696.1:p.Leu751Ter, XP_016855699.1:p.Leu830Ser, XP_016855699.1:p.Leu830Ter, XP_016855701.1:p.Leu830Ser, XP_016855701.1:p.Leu830Ter, XP_011538898.2:p.Leu389Ser, XP_011538898.2:p.Leu389Ter, XP_016855703.1:p.Leu830Ser, XP_016855703.1:p.Leu830Ter, XP_024308671.1:p.Leu830Ser, XP_024308671.1:p.Leu830Ter, XP_024308680.1:p.Leu830Ser, XP_024308680.1:p.Leu830Ter, XP_024308655.1:p.Leu830Ser, XP_024308655.1:p.Leu830Ter, NP_443161.1:p.Leu791Ser, NP_443161.1:p.Leu791Ter, XP_016855689.1:p.Leu830Ser, XP_016855689.1:p.Leu830Ter, XP_016855690.1:p.Leu830Ser, XP_016855690.1:p.Leu830Ter, XP_016855691.1:p.Leu794Ser, XP_016855691.1:p.Leu794Ter, XP_016855694.1:p.Leu765Ser, XP_016855694.1:p.Leu765Ter, XP_024308666.1:p.Leu744Ser, XP_024308666.1:p.Leu744Ter, XP_024308686.1:p.Leu808Ser, XP_024308686.1:p.Leu808Ter, XP_011538894.1:p.Leu717Ser, XP_011538894.1:p.Leu717Ter, XP_011538897.1:p.Leu619Ser, XP_011538897.1:p.Leu619Ter, XP_016855702.1:p.Leu830Ser, XP_016855702.1:p.Leu830Ter, XP_047299690.1:p.Leu830Ser, XP_047299690.1:p.Leu830Ter, XP_047299754.1:p.Leu830Ser, XP_047299754.1:p.Leu830Ter, XP_047299732.1:p.Leu830Ser, XP_047299732.1:p.Leu830Ter, NP_001378886.1:p.Leu813Ser, NP_001378886.1:p.Leu813Ter, XP_047299699.1:p.Leu830Ser, XP_047299699.1:p.Leu830Ter, XP_047299730.1:p.Leu830Ser, XP_047299730.1:p.Leu830Ter, XP_047299757.1:p.Leu794Ser, XP_047299757.1:p.Leu794Ter, XP_047299693.1:p.Leu777Ser, XP_047299693.1:p.Leu777Ter, XP_047299791.1:p.Leu519Ser, XP_047299791.1:p.Leu519Ter

                              15.

                              rs1484082597 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:15374601 (GRCh38)
                                1:15701097 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:15374600:A:G
                                Gene:
                                FHAD1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000006/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.15374601A>G, NC_000001.10:g.15701097A>G, XM_011540584.4:c.3598A>G, XM_011540584.3:c.3598A>G, XM_011540584.2:c.3598A>G, XM_011540584.1:c.3598A>G, XM_011540588.4:c.3598A>G, XM_011540588.3:c.3598A>G, XM_011540588.2:c.3598A>G, XM_011540588.1:c.3598A>G, XM_011540581.4:c.3598A>G, XM_011540581.3:c.3598A>G, XM_011540581.2:c.3598A>G, XM_011540581.1:c.3598A>G, XM_011540582.4:c.3598A>G, XM_011540582.3:c.3598A>G, XM_011540582.2:c.3598A>G, XM_011540582.1:c.3598A>G, XM_017000211.3:c.3487A>G, XM_017000211.2:c.3487A>G, XM_017000211.1:c.3487A>G, XM_017000198.3:c.3598A>G, XM_017000198.2:c.3598A>G, XM_017000198.1:c.3598A>G, XM_011540576.3:c.3595A>G, XM_011540576.2:c.3595A>G, XM_011540576.1:c.3595A>G, XM_011540577.3:c.3547A>G, XM_011540577.2:c.3547A>G, XM_011540577.1:c.3547A>G, XM_017000199.3:c.3598A>G, XM_017000199.2:c.3598A>G, XM_017000199.1:c.3598A>G, XM_017000203.3:c.3598A>G, XM_017000203.2:c.3598A>G, XM_017000203.1:c.3598A>G, XM_017000206.3:c.3598A>G, XM_017000206.2:c.3598A>G, XM_017000206.1:c.3598A>G, XM_017000207.3:c.3361A>G, XM_017000207.2:c.3361A>G, XM_017000207.1:c.3361A>G, XM_017000210.3:c.3598A>G, XM_017000210.2:c.3598A>G, XM_017000210.1:c.3598A>G, XM_017000212.3:c.3598A>G, XM_017000212.2:c.3598A>G, XM_017000212.1:c.3598A>G, XM_011540596.3:c.2275A>G, XM_011540596.2:c.2530A>G, XM_011540596.1:c.2530A>G, XM_024452903.2:c.3598A>G, XM_024452903.1:c.3598A>G, XM_024452912.2:c.3598A>G, XM_024452912.1:c.3598A>G, XM_024452887.2:c.3598A>G, XM_024452887.1:c.3598A>G, NM_052929.2:c.3481A>G, NM_052929.1:c.3481A>G, XM_017000200.2:c.3598A>G, XM_017000200.1:c.3598A>G, XM_017000201.2:c.3598A>G, XM_017000201.1:c.3598A>G, XM_017000202.2:c.3490A>G, XM_017000202.1:c.3490A>G, XM_017000205.2:c.3403A>G, XM_017000205.1:c.3403A>G, XM_024452898.2:c.3340A>G, XM_024452898.1:c.3340A>G, XM_024452918.2:c.3532A>G, XM_024452918.1:c.3532A>G, XM_011540592.2:c.3259A>G, XM_011540592.1:c.3259A>G, XM_011540595.2:c.2965A>G, XM_011540595.1:c.2965A>G, XM_047443734.1:c.3598A>G, XM_047443798.1:c.3598A>G, XM_047443776.1:c.3598A>G, NM_001391921.1:c.3598A>G, NM_001387888.1:c.*3623A>G, NM_001391957.1:c.3547A>G, XM_047443743.1:c.3595A>G, XM_047443774.1:c.3595A>G, XM_047443790.1:c.3490A>G, XM_047443801.1:c.3490A>G, XM_047443737.1:c.3439A>G, XM_047443835.1:c.2662A>G, XP_011538886.1:p.Ile1200Val, XP_011538890.1:p.Ile1200Val, XP_011538883.1:p.Ile1200Val, XP_011538884.1:p.Ile1200Val, XP_016855700.1:p.Ile1163Val, XP_016855687.1:p.Ile1200Val, XP_011538878.1:p.Ile1199Val, XP_011538879.1:p.Ile1183Val, XP_016855688.1:p.Ile1200Val, XP_016855692.1:p.Ile1200Val, XP_016855695.1:p.Ile1200Val, XP_016855696.1:p.Ile1121Val, XP_016855699.1:p.Ile1200Val, XP_016855701.1:p.Ile1200Val, XP_011538898.2:p.Ile759Val, XP_024308671.1:p.Ile1200Val, XP_024308680.1:p.Ile1200Val, XP_024308655.1:p.Ile1200Val, NP_443161.1:p.Ile1161Val, XP_016855689.1:p.Ile1200Val, XP_016855690.1:p.Ile1200Val, XP_016855691.1:p.Ile1164Val, XP_016855694.1:p.Ile1135Val, XP_024308666.1:p.Ile1114Val, XP_024308686.1:p.Ile1178Val, XP_011538894.1:p.Ile1087Val, XP_011538897.1:p.Ile989Val, XP_047299690.1:p.Ile1200Val, XP_047299754.1:p.Ile1200Val, XP_047299732.1:p.Ile1200Val, NP_001378886.1:p.Ile1183Val, XP_047299699.1:p.Ile1199Val, XP_047299730.1:p.Ile1199Val, XP_047299746.1:p.Ile1164Val, XP_047299757.1:p.Ile1164Val, XP_047299693.1:p.Ile1147Val, XP_047299791.1:p.Ile888Val

                                16.

                                rs1483859086 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:15367557 (GRCh38)
                                  1:15694053 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:15367556:G:A
                                  Gene:
                                  FHAD1 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.00003/8 (TOPMED)
                                  A=0.000052/8 (GnomAD_exomes)
                                  A=0.000283/5 (TOMMO)
                                  A=0.000546/1 (Korea1K)
                                  A=0.001714/5 (KOREAN)
                                  HGVS:
                                  NC_000001.11:g.15367557G>A, NC_000001.10:g.15694053G>A, XM_011540584.4:c.3300G>A, XM_011540584.3:c.3300G>A, XM_011540584.2:c.3300G>A, XM_011540584.1:c.3300G>A, XM_011540588.4:c.3300G>A, XM_011540588.3:c.3300G>A, XM_011540588.2:c.3300G>A, XM_011540588.1:c.3300G>A, XM_011540581.4:c.3300G>A, XM_011540581.3:c.3300G>A, XM_011540581.2:c.3300G>A, XM_011540581.1:c.3300G>A, XM_011540582.4:c.3300G>A, XM_011540582.3:c.3300G>A, XM_011540582.2:c.3300G>A, XM_011540582.1:c.3300G>A, XM_017000211.3:c.3192G>A, XM_017000211.2:c.3192G>A, XM_017000211.1:c.3192G>A, XM_017000198.3:c.3300G>A, XM_017000198.2:c.3300G>A, XM_017000198.1:c.3300G>A, XM_011540576.3:c.3300G>A, XM_011540576.2:c.3300G>A, XM_011540576.1:c.3300G>A, XM_011540577.3:c.3249G>A, XM_011540577.2:c.3249G>A, XM_011540577.1:c.3249G>A, XM_017000199.3:c.3300G>A, XM_017000199.2:c.3300G>A, XM_017000199.1:c.3300G>A, XM_017000203.3:c.3300G>A, XM_017000203.2:c.3300G>A, XM_017000203.1:c.3300G>A, XM_017000206.3:c.3300G>A, XM_017000206.2:c.3300G>A, XM_017000206.1:c.3300G>A, XM_017000207.3:c.3063G>A, XM_017000207.2:c.3063G>A, XM_017000207.1:c.3063G>A, XM_017000210.3:c.3300G>A, XM_017000210.2:c.3300G>A, XM_017000210.1:c.3300G>A, XM_017000212.3:c.3300G>A, XM_017000212.2:c.3300G>A, XM_017000212.1:c.3300G>A, XM_011540596.3:c.1977G>A, XM_011540596.2:c.2232G>A, XM_011540596.1:c.2232G>A, XM_024452903.2:c.3300G>A, XM_024452903.1:c.3300G>A, XM_024452912.2:c.3300G>A, XM_024452912.1:c.3300G>A, XM_024452887.2:c.3300G>A, XM_024452887.1:c.3300G>A, NM_052929.2:c.3183G>A, NM_052929.1:c.3183G>A, XM_017000200.2:c.3300G>A, XM_017000200.1:c.3300G>A, XM_017000201.2:c.3300G>A, XM_017000201.1:c.3300G>A, XM_017000202.2:c.3192G>A, XM_017000202.1:c.3192G>A, XM_017000205.2:c.3105G>A, XM_017000205.1:c.3105G>A, XM_024452898.2:c.3042G>A, XM_024452898.1:c.3042G>A, XM_024452918.2:c.3234G>A, XM_024452918.1:c.3234G>A, XM_011540592.2:c.2961G>A, XM_011540592.1:c.2961G>A, XM_011540595.2:c.2667G>A, XM_011540595.1:c.2667G>A, XM_047443734.1:c.3300G>A, XM_047443798.1:c.3300G>A, XM_047443776.1:c.3300G>A, NM_001391921.1:c.3300G>A, NM_001387888.1:c.*3325G>A, NM_001391957.1:c.3249G>A, XM_047443743.1:c.3300G>A, XM_047443774.1:c.3300G>A, XM_047443790.1:c.3192G>A, XM_047443801.1:c.3192G>A, XM_047443737.1:c.3141G>A, XM_047443835.1:c.2367G>A, XP_011538886.1:p.Met1100Ile, XP_011538890.1:p.Met1100Ile, XP_011538883.1:p.Met1100Ile, XP_011538884.1:p.Met1100Ile, XP_016855700.1:p.Met1064Ile, XP_016855687.1:p.Met1100Ile, XP_011538878.1:p.Met1100Ile, XP_011538879.1:p.Met1083Ile, XP_016855688.1:p.Met1100Ile, XP_016855692.1:p.Met1100Ile, XP_016855695.1:p.Met1100Ile, XP_016855696.1:p.Met1021Ile, XP_016855699.1:p.Met1100Ile, XP_016855701.1:p.Met1100Ile, XP_011538898.2:p.Met659Ile, XP_024308671.1:p.Met1100Ile, XP_024308680.1:p.Met1100Ile, XP_024308655.1:p.Met1100Ile, NP_443161.1:p.Met1061Ile, XP_016855689.1:p.Met1100Ile, XP_016855690.1:p.Met1100Ile, XP_016855691.1:p.Met1064Ile, XP_016855694.1:p.Met1035Ile, XP_024308666.1:p.Met1014Ile, XP_024308686.1:p.Met1078Ile, XP_011538894.1:p.Met987Ile, XP_011538897.1:p.Met889Ile, XP_047299690.1:p.Met1100Ile, XP_047299754.1:p.Met1100Ile, XP_047299732.1:p.Met1100Ile, NP_001378886.1:p.Met1083Ile, XP_047299699.1:p.Met1100Ile, XP_047299730.1:p.Met1100Ile, XP_047299746.1:p.Met1064Ile, XP_047299757.1:p.Met1064Ile, XP_047299693.1:p.Met1047Ile, XP_047299791.1:p.Met789Ile

                                  17.

                                  rs1482742893 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:15374530 (GRCh38)
                                    1:15701026 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:15374529:G:A
                                    Gene:
                                    FHAD1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.15374530G>A, NC_000001.10:g.15701026G>A, XM_011540584.4:c.3527G>A, XM_011540584.3:c.3527G>A, XM_011540584.2:c.3527G>A, XM_011540584.1:c.3527G>A, XM_011540588.4:c.3527G>A, XM_011540588.3:c.3527G>A, XM_011540588.2:c.3527G>A, XM_011540588.1:c.3527G>A, XM_011540581.4:c.3527G>A, XM_011540581.3:c.3527G>A, XM_011540581.2:c.3527G>A, XM_011540581.1:c.3527G>A, XM_011540582.4:c.3527G>A, XM_011540582.3:c.3527G>A, XM_011540582.2:c.3527G>A, XM_011540582.1:c.3527G>A, XM_017000211.3:c.3416G>A, XM_017000211.2:c.3416G>A, XM_017000211.1:c.3416G>A, XM_017000198.3:c.3527G>A, XM_017000198.2:c.3527G>A, XM_017000198.1:c.3527G>A, XM_011540576.3:c.3524G>A, XM_011540576.2:c.3524G>A, XM_011540576.1:c.3524G>A, XM_011540577.3:c.3476G>A, XM_011540577.2:c.3476G>A, XM_011540577.1:c.3476G>A, XM_017000199.3:c.3527G>A, XM_017000199.2:c.3527G>A, XM_017000199.1:c.3527G>A, XM_017000203.3:c.3527G>A, XM_017000203.2:c.3527G>A, XM_017000203.1:c.3527G>A, XM_017000206.3:c.3527G>A, XM_017000206.2:c.3527G>A, XM_017000206.1:c.3527G>A, XM_017000207.3:c.3290G>A, XM_017000207.2:c.3290G>A, XM_017000207.1:c.3290G>A, XM_017000210.3:c.3527G>A, XM_017000210.2:c.3527G>A, XM_017000210.1:c.3527G>A, XM_017000212.3:c.3527G>A, XM_017000212.2:c.3527G>A, XM_017000212.1:c.3527G>A, XM_011540596.3:c.2204G>A, XM_011540596.2:c.2459G>A, XM_011540596.1:c.2459G>A, XM_024452903.2:c.3527G>A, XM_024452903.1:c.3527G>A, XM_024452912.2:c.3527G>A, XM_024452912.1:c.3527G>A, XM_024452887.2:c.3527G>A, XM_024452887.1:c.3527G>A, NM_052929.2:c.3410G>A, NM_052929.1:c.3410G>A, XM_017000200.2:c.3527G>A, XM_017000200.1:c.3527G>A, XM_017000201.2:c.3527G>A, XM_017000201.1:c.3527G>A, XM_017000202.2:c.3419G>A, XM_017000202.1:c.3419G>A, XM_017000205.2:c.3332G>A, XM_017000205.1:c.3332G>A, XM_024452898.2:c.3269G>A, XM_024452898.1:c.3269G>A, XM_024452918.2:c.3461G>A, XM_024452918.1:c.3461G>A, XM_011540592.2:c.3188G>A, XM_011540592.1:c.3188G>A, XM_011540595.2:c.2894G>A, XM_011540595.1:c.2894G>A, XM_047443734.1:c.3527G>A, XM_047443798.1:c.3527G>A, XM_047443776.1:c.3527G>A, NM_001391921.1:c.3527G>A, NM_001387888.1:c.*3552G>A, NM_001391957.1:c.3476G>A, XM_047443743.1:c.3524G>A, XM_047443774.1:c.3524G>A, XM_047443790.1:c.3419G>A, XM_047443801.1:c.3419G>A, XM_047443737.1:c.3368G>A, XM_047443835.1:c.2591G>A, XP_011538886.1:p.Arg1176Lys, XP_011538890.1:p.Arg1176Lys, XP_011538883.1:p.Arg1176Lys, XP_011538884.1:p.Arg1176Lys, XP_016855700.1:p.Arg1139Lys, XP_016855687.1:p.Arg1176Lys, XP_011538878.1:p.Arg1175Lys, XP_011538879.1:p.Arg1159Lys, XP_016855688.1:p.Arg1176Lys, XP_016855692.1:p.Arg1176Lys, XP_016855695.1:p.Arg1176Lys, XP_016855696.1:p.Arg1097Lys, XP_016855699.1:p.Arg1176Lys, XP_016855701.1:p.Arg1176Lys, XP_011538898.2:p.Arg735Lys, XP_024308671.1:p.Arg1176Lys, XP_024308680.1:p.Arg1176Lys, XP_024308655.1:p.Arg1176Lys, NP_443161.1:p.Arg1137Lys, XP_016855689.1:p.Arg1176Lys, XP_016855690.1:p.Arg1176Lys, XP_016855691.1:p.Arg1140Lys, XP_016855694.1:p.Arg1111Lys, XP_024308666.1:p.Arg1090Lys, XP_024308686.1:p.Arg1154Lys, XP_011538894.1:p.Arg1063Lys, XP_011538897.1:p.Arg965Lys, XP_047299690.1:p.Arg1176Lys, XP_047299754.1:p.Arg1176Lys, XP_047299732.1:p.Arg1176Lys, NP_001378886.1:p.Arg1159Lys, XP_047299699.1:p.Arg1175Lys, XP_047299730.1:p.Arg1175Lys, XP_047299746.1:p.Arg1140Lys, XP_047299757.1:p.Arg1140Lys, XP_047299693.1:p.Arg1123Lys, XP_047299791.1:p.Arg864Lys

                                    18.

                                    rs1482652670 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:15236745 (GRCh38)
                                      1:15563241 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:15236744:C:T
                                      Gene:
                                      FHAD1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      C=0.5/2 (SGDP_PRJ)
                                      HGVS:
                                      NC_000001.11:g.15236745C>T, NC_000001.10:g.15563241C>T, XM_011540584.4:c.21C>T, XM_011540584.3:c.21C>T, XM_011540584.2:c.21C>T, XM_011540584.1:c.21C>T, XM_011540588.4:c.21C>T, XM_011540588.3:c.21C>T, XM_011540588.2:c.21C>T, XM_011540588.1:c.21C>T, XM_011540581.4:c.21C>T, XM_011540581.3:c.21C>T, XM_011540581.2:c.21C>T, XM_011540581.1:c.21C>T, XM_011540582.4:c.21C>T, XM_011540582.3:c.21C>T, XM_011540582.2:c.21C>T, XM_011540582.1:c.21C>T, XM_011540597.4:c.21C>T, XM_011540597.3:c.21C>T, XM_011540597.2:c.21C>T, XM_011540597.1:c.21C>T, XM_011540598.4:c.21C>T, XM_011540598.3:c.21C>T, XM_011540598.2:c.21C>T, XM_011540598.1:c.21C>T, XM_017000211.3:c.21C>T, XM_017000211.2:c.21C>T, XM_017000211.1:c.21C>T, XM_017000198.3:c.21C>T, XM_017000198.2:c.21C>T, XM_017000198.1:c.21C>T, XM_011540576.3:c.21C>T, XM_011540576.2:c.21C>T, XM_011540576.1:c.21C>T, XM_017000199.3:c.21C>T, XM_017000199.2:c.21C>T, XM_017000199.1:c.21C>T, XM_017000203.3:c.21C>T, XM_017000203.2:c.21C>T, XM_017000203.1:c.21C>T, XM_017000206.3:c.21C>T, XM_017000206.2:c.21C>T, XM_017000206.1:c.21C>T, XM_017000207.3:c.21C>T, XM_017000207.2:c.21C>T, XM_017000207.1:c.21C>T, XM_017000210.3:c.21C>T, XM_017000210.2:c.21C>T, XM_017000210.1:c.21C>T, XM_017000212.3:c.21C>T, XM_017000212.2:c.21C>T, XM_017000212.1:c.21C>T, XM_017000214.3:c.21C>T, XM_017000214.2:c.21C>T, XM_017000214.1:c.21C>T, XM_024452903.2:c.21C>T, XM_024452903.1:c.21C>T, XM_024452912.2:c.21C>T, XM_024452912.1:c.21C>T, XM_024452887.2:c.21C>T, XM_024452887.1:c.21C>T, XM_017000200.2:c.21C>T, XM_017000200.1:c.21C>T, XM_017000201.2:c.21C>T, XM_017000201.1:c.21C>T, XM_017000202.2:c.21C>T, XM_017000202.1:c.21C>T, XM_017000205.2:c.21C>T, XM_017000205.1:c.21C>T, XM_024452918.2:c.21C>T, XM_024452918.1:c.21C>T, XM_017000213.2:c.21C>T, XM_017000213.1:c.21C>T, XM_047443734.1:c.21C>T, XM_047443798.1:c.21C>T, XM_047443776.1:c.21C>T, NM_001391921.1:c.21C>T, NM_001387888.1:c.*46C>T, XM_047443743.1:c.21C>T, XM_047443774.1:c.21C>T, XM_047443790.1:c.21C>T, XM_047443801.1:c.21C>T

                                      19.

                                      rs1482038297 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        1:15289415 (GRCh38)
                                        1:15615911 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:15289414:T:A
                                        Gene:
                                        FHAD1 (Varview), LOC124903853 (Varview)
                                        Functional Consequence:
                                        missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000047/1 (ALFA)
                                        A=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.15289415T>A, NC_000001.10:g.15615911T>A, NG_081953.1:g.617T>A, XM_011540584.4:c.368T>A, XM_011540584.3:c.368T>A, XM_011540584.2:c.368T>A, XM_011540584.1:c.368T>A, XM_011540588.4:c.368T>A, XM_011540588.3:c.368T>A, XM_011540588.2:c.368T>A, XM_011540588.1:c.368T>A, XM_011540581.4:c.368T>A, XM_011540581.3:c.368T>A, XM_011540581.2:c.368T>A, XM_011540581.1:c.368T>A, XM_011540582.4:c.368T>A, XM_011540582.3:c.368T>A, XM_011540582.2:c.368T>A, XM_011540582.1:c.368T>A, XM_011540597.4:c.368T>A, XM_011540597.3:c.368T>A, XM_011540597.2:c.368T>A, XM_011540597.1:c.368T>A, XM_011540598.4:c.368T>A, XM_011540598.3:c.368T>A, XM_011540598.2:c.368T>A, XM_011540598.1:c.368T>A, XM_017000211.3:c.368T>A, XM_017000211.2:c.368T>A, XM_017000211.1:c.368T>A, XM_017000198.3:c.368T>A, XM_017000198.2:c.368T>A, XM_017000198.1:c.368T>A, XM_011540576.3:c.368T>A, XM_011540576.2:c.368T>A, XM_011540576.1:c.368T>A, XM_011540577.3:c.317T>A, XM_011540577.2:c.317T>A, XM_011540577.1:c.317T>A, XM_017000199.3:c.368T>A, XM_017000199.2:c.368T>A, XM_017000199.1:c.368T>A, XM_017000203.3:c.368T>A, XM_017000203.2:c.368T>A, XM_017000203.1:c.368T>A, XM_017000206.3:c.368T>A, XM_017000206.2:c.368T>A, XM_017000206.1:c.368T>A, XM_017000207.3:c.368T>A, XM_017000207.2:c.368T>A, XM_017000207.1:c.368T>A, XM_017000210.3:c.368T>A, XM_017000210.2:c.368T>A, XM_017000210.1:c.368T>A, XM_017000212.3:c.368T>A, XM_017000212.2:c.368T>A, XM_017000212.1:c.368T>A, XM_017000214.3:c.368T>A, XM_017000214.2:c.368T>A, XM_017000214.1:c.368T>A, XM_024452903.2:c.368T>A, XM_024452903.1:c.368T>A, XM_024452912.2:c.368T>A, XM_024452912.1:c.368T>A, XM_024452887.2:c.368T>A, XM_024452887.1:c.368T>A, NM_052929.2:c.317T>A, NM_052929.1:c.317T>A, XM_017000200.2:c.368T>A, XM_017000200.1:c.368T>A, XM_017000201.2:c.368T>A, XM_017000201.1:c.368T>A, XM_017000202.2:c.368T>A, XM_017000202.1:c.368T>A, XM_017000205.2:c.368T>A, XM_017000205.1:c.368T>A, XM_024452898.2:c.110T>A, XM_024452898.1:c.110T>A, XM_024452918.2:c.368T>A, XM_024452918.1:c.368T>A, XM_011540592.2:c.29T>A, XM_011540592.1:c.29T>A, XM_017000213.2:c.368T>A, XM_017000213.1:c.368T>A, XM_047443734.1:c.368T>A, XM_047443798.1:c.368T>A, XM_047443776.1:c.368T>A, NM_001391921.1:c.368T>A, NM_001387888.1:c.*393T>A, NM_001391957.1:c.317T>A, XM_047443743.1:c.368T>A, XM_047443774.1:c.368T>A, XM_047443790.1:c.368T>A, XM_047443801.1:c.368T>A, XM_047443737.1:c.317T>A, XM_047443846.1:c.110T>A, XR_007065482.1:n.618A>T, XM_047443847.1:c.317T>A, XP_011538886.1:p.Met123Lys, XP_011538890.1:p.Met123Lys, XP_011538883.1:p.Met123Lys, XP_011538884.1:p.Met123Lys, XP_011538899.1:p.Met123Lys, XP_011538900.1:p.Met123Lys, XP_016855700.1:p.Met123Lys, XP_016855687.1:p.Met123Lys, XP_011538878.1:p.Met123Lys, XP_011538879.1:p.Met106Lys, XP_016855688.1:p.Met123Lys, XP_016855692.1:p.Met123Lys, XP_016855695.1:p.Met123Lys, XP_016855696.1:p.Met123Lys, XP_016855699.1:p.Met123Lys, XP_016855701.1:p.Met123Lys, XP_016855703.1:p.Met123Lys, XP_024308671.1:p.Met123Lys, XP_024308680.1:p.Met123Lys, XP_024308655.1:p.Met123Lys, NP_443161.1:p.Met106Lys, XP_016855689.1:p.Met123Lys, XP_016855690.1:p.Met123Lys, XP_016855691.1:p.Met123Lys, XP_016855694.1:p.Met123Lys, XP_024308666.1:p.Met37Lys, XP_024308686.1:p.Met123Lys, XP_011538894.1:p.Met10Lys, XP_016855702.1:p.Met123Lys, XP_047299690.1:p.Met123Lys, XP_047299754.1:p.Met123Lys, XP_047299732.1:p.Met123Lys, NP_001378886.1:p.Met106Lys, XP_047299699.1:p.Met123Lys, XP_047299730.1:p.Met123Lys, XP_047299746.1:p.Met123Lys, XP_047299757.1:p.Met123Lys, XP_047299693.1:p.Met106Lys, XP_047299802.1:p.Met37Lys, XP_047299803.1:p.Met106Lys

                                        20.

                                        rs1481613066 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          1:15349115 (GRCh38)
                                          1:15675611 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:15349114:A:G,NC_000001.11:15349114:A:T
                                          Gene:
                                          FHAD1 (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          T=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.15349115A>G, NC_000001.11:g.15349115A>T, NC_000001.10:g.15675611A>G, NC_000001.10:g.15675611A>T, XM_011540584.4:c.2471A>G, XM_011540584.4:c.2471A>T, XM_011540584.3:c.2471A>G, XM_011540584.3:c.2471A>T, XM_011540584.2:c.2471A>G, XM_011540584.2:c.2471A>T, XM_011540584.1:c.2471A>G, XM_011540584.1:c.2471A>T, XM_011540588.4:c.2471A>G, XM_011540588.4:c.2471A>T, XM_011540588.3:c.2471A>G, XM_011540588.3:c.2471A>T, XM_011540588.2:c.2471A>G, XM_011540588.2:c.2471A>T, XM_011540588.1:c.2471A>G, XM_011540588.1:c.2471A>T, XM_011540581.4:c.2471A>G, XM_011540581.4:c.2471A>T, XM_011540581.3:c.2471A>G, XM_011540581.3:c.2471A>T, XM_011540581.2:c.2471A>G, XM_011540581.2:c.2471A>T, XM_011540581.1:c.2471A>G, XM_011540581.1:c.2471A>T, XM_011540582.4:c.2471A>G, XM_011540582.4:c.2471A>T, XM_011540582.3:c.2471A>G, XM_011540582.3:c.2471A>T, XM_011540582.2:c.2471A>G, XM_011540582.2:c.2471A>T, XM_011540582.1:c.2471A>G, XM_011540582.1:c.2471A>T, XM_011540597.4:c.2471A>G, XM_011540597.4:c.2471A>T, XM_011540597.3:c.2471A>G, XM_011540597.3:c.2471A>T, XM_011540597.2:c.2471A>G, XM_011540597.2:c.2471A>T, XM_011540597.1:c.2471A>G, XM_011540597.1:c.2471A>T, XM_011540598.4:c.*48A>G, XM_011540598.4:c.*48A>T, XM_011540598.3:c.*48A>G, XM_011540598.3:c.*48A>T, XM_011540598.2:c.*48A>G, XM_011540598.2:c.*48A>T, XM_011540598.1:c.*48A>G, XM_011540598.1:c.*48A>T, XM_017000198.3:c.2471A>G, XM_017000198.3:c.2471A>T, XM_017000198.2:c.2471A>G, XM_017000198.2:c.2471A>T, XM_017000198.1:c.2471A>G, XM_017000198.1:c.2471A>T, XM_011540576.3:c.2471A>G, XM_011540576.3:c.2471A>T, XM_011540576.2:c.2471A>G, XM_011540576.2:c.2471A>T, XM_011540576.1:c.2471A>G, XM_011540576.1:c.2471A>T, XM_011540577.3:c.2420A>G, XM_011540577.3:c.2420A>T, XM_011540577.2:c.2420A>G, XM_011540577.2:c.2420A>T, XM_011540577.1:c.2420A>G, XM_011540577.1:c.2420A>T, XM_017000199.3:c.2471A>G, XM_017000199.3:c.2471A>T, XM_017000199.2:c.2471A>G, XM_017000199.2:c.2471A>T, XM_017000199.1:c.2471A>G, XM_017000199.1:c.2471A>T, XM_017000203.3:c.2471A>G, XM_017000203.3:c.2471A>T, XM_017000203.2:c.2471A>G, XM_017000203.2:c.2471A>T, XM_017000203.1:c.2471A>G, XM_017000203.1:c.2471A>T, XM_017000206.3:c.2471A>G, XM_017000206.3:c.2471A>T, XM_017000206.2:c.2471A>G, XM_017000206.2:c.2471A>T, XM_017000206.1:c.2471A>G, XM_017000206.1:c.2471A>T, XM_017000207.3:c.2234A>G, XM_017000207.3:c.2234A>T, XM_017000207.2:c.2234A>G, XM_017000207.2:c.2234A>T, XM_017000207.1:c.2234A>G, XM_017000207.1:c.2234A>T, XM_017000210.3:c.2471A>G, XM_017000210.3:c.2471A>T, XM_017000210.2:c.2471A>G, XM_017000210.2:c.2471A>T, XM_017000210.1:c.2471A>G, XM_017000210.1:c.2471A>T, XM_017000212.3:c.2471A>G, XM_017000212.3:c.2471A>T, XM_017000212.2:c.2471A>G, XM_017000212.2:c.2471A>T, XM_017000212.1:c.2471A>G, XM_017000212.1:c.2471A>T, XM_011540596.3:c.1148A>G, XM_011540596.3:c.1148A>T, XM_011540596.2:c.1403A>G, XM_011540596.2:c.1403A>T, XM_011540596.1:c.1403A>G, XM_011540596.1:c.1403A>T, XM_017000214.3:c.2471A>G, XM_017000214.3:c.2471A>T, XM_017000214.2:c.2471A>G, XM_017000214.2:c.2471A>T, XM_017000214.1:c.2471A>G, XM_017000214.1:c.2471A>T, XM_024452903.2:c.2471A>G, XM_024452903.2:c.2471A>T, XM_024452903.1:c.2471A>G, XM_024452903.1:c.2471A>T, XM_024452912.2:c.2471A>G, XM_024452912.2:c.2471A>T, XM_024452912.1:c.2471A>G, XM_024452912.1:c.2471A>T, XM_024452887.2:c.2471A>G, XM_024452887.2:c.2471A>T, XM_024452887.1:c.2471A>G, XM_024452887.1:c.2471A>T, NM_052929.2:c.2354A>G, NM_052929.2:c.2354A>T, NM_052929.1:c.2354A>G, NM_052929.1:c.2354A>T, XM_017000200.2:c.2471A>G, XM_017000200.2:c.2471A>T, XM_017000200.1:c.2471A>G, XM_017000200.1:c.2471A>T, XM_017000201.2:c.2471A>G, XM_017000201.2:c.2471A>T, XM_017000201.1:c.2471A>G, XM_017000201.1:c.2471A>T, XM_017000202.2:c.2363A>G, XM_017000202.2:c.2363A>T, XM_017000202.1:c.2363A>G, XM_017000202.1:c.2363A>T, XM_017000205.2:c.2276A>G, XM_017000205.2:c.2276A>T, XM_017000205.1:c.2276A>G, XM_017000205.1:c.2276A>T, XM_024452898.2:c.2213A>G, XM_024452898.2:c.2213A>T, XM_024452898.1:c.2213A>G, XM_024452898.1:c.2213A>T, XM_024452918.2:c.2405A>G, XM_024452918.2:c.2405A>T, XM_024452918.1:c.2405A>G, XM_024452918.1:c.2405A>T, XM_011540592.2:c.2132A>G, XM_011540592.2:c.2132A>T, XM_011540592.1:c.2132A>G, XM_011540592.1:c.2132A>T, XM_011540595.2:c.1838A>G, XM_011540595.2:c.1838A>T, XM_011540595.1:c.1838A>G, XM_011540595.1:c.1838A>T, XM_017000213.2:c.2471A>G, XM_017000213.2:c.2471A>T, XM_017000213.1:c.2471A>G, XM_017000213.1:c.2471A>T, XM_047443734.1:c.2471A>G, XM_047443734.1:c.2471A>T, XM_047443798.1:c.2471A>G, XM_047443798.1:c.2471A>T, XM_047443776.1:c.2471A>G, XM_047443776.1:c.2471A>T, NM_001391921.1:c.2471A>G, NM_001391921.1:c.2471A>T, NM_001387888.1:c.*2496A>G, NM_001387888.1:c.*2496A>T, NM_001391957.1:c.2420A>G, NM_001391957.1:c.2420A>T, XM_047443743.1:c.2471A>G, XM_047443743.1:c.2471A>T, XM_047443774.1:c.2471A>G, XM_047443774.1:c.2471A>T, XM_047443801.1:c.2363A>G, XM_047443801.1:c.2363A>T, XM_047443737.1:c.2312A>G, XM_047443737.1:c.2312A>T, XM_047443835.1:c.1538A>G, XM_047443835.1:c.1538A>T, XM_047443847.1:c.*48A>G, XM_047443847.1:c.*48A>T, XP_011538886.1:p.Gln824Arg, XP_011538886.1:p.Gln824Leu, XP_011538890.1:p.Gln824Arg, XP_011538890.1:p.Gln824Leu, XP_011538883.1:p.Gln824Arg, XP_011538883.1:p.Gln824Leu, XP_011538884.1:p.Gln824Arg, XP_011538884.1:p.Gln824Leu, XP_011538899.1:p.Gln824Arg, XP_011538899.1:p.Gln824Leu, XP_016855687.1:p.Gln824Arg, XP_016855687.1:p.Gln824Leu, XP_011538878.1:p.Gln824Arg, XP_011538878.1:p.Gln824Leu, XP_011538879.1:p.Gln807Arg, XP_011538879.1:p.Gln807Leu, XP_016855688.1:p.Gln824Arg, XP_016855688.1:p.Gln824Leu, XP_016855692.1:p.Gln824Arg, XP_016855692.1:p.Gln824Leu, XP_016855695.1:p.Gln824Arg, XP_016855695.1:p.Gln824Leu, XP_016855696.1:p.Gln745Arg, XP_016855696.1:p.Gln745Leu, XP_016855699.1:p.Gln824Arg, XP_016855699.1:p.Gln824Leu, XP_016855701.1:p.Gln824Arg, XP_016855701.1:p.Gln824Leu, XP_011538898.2:p.Gln383Arg, XP_011538898.2:p.Gln383Leu, XP_016855703.1:p.Gln824Arg, XP_016855703.1:p.Gln824Leu, XP_024308671.1:p.Gln824Arg, XP_024308671.1:p.Gln824Leu, XP_024308680.1:p.Gln824Arg, XP_024308680.1:p.Gln824Leu, XP_024308655.1:p.Gln824Arg, XP_024308655.1:p.Gln824Leu, NP_443161.1:p.Gln785Arg, NP_443161.1:p.Gln785Leu, XP_016855689.1:p.Gln824Arg, XP_016855689.1:p.Gln824Leu, XP_016855690.1:p.Gln824Arg, XP_016855690.1:p.Gln824Leu, XP_016855691.1:p.Gln788Arg, XP_016855691.1:p.Gln788Leu, XP_016855694.1:p.Gln759Arg, XP_016855694.1:p.Gln759Leu, XP_024308666.1:p.Gln738Arg, XP_024308666.1:p.Gln738Leu, XP_024308686.1:p.Gln802Arg, XP_024308686.1:p.Gln802Leu, XP_011538894.1:p.Gln711Arg, XP_011538894.1:p.Gln711Leu, XP_011538897.1:p.Gln613Arg, XP_011538897.1:p.Gln613Leu, XP_016855702.1:p.Gln824Arg, XP_016855702.1:p.Gln824Leu, XP_047299690.1:p.Gln824Arg, XP_047299690.1:p.Gln824Leu, XP_047299754.1:p.Gln824Arg, XP_047299754.1:p.Gln824Leu, XP_047299732.1:p.Gln824Arg, XP_047299732.1:p.Gln824Leu, NP_001378886.1:p.Gln807Arg, NP_001378886.1:p.Gln807Leu, XP_047299699.1:p.Gln824Arg, XP_047299699.1:p.Gln824Leu, XP_047299730.1:p.Gln824Arg, XP_047299730.1:p.Gln824Leu, XP_047299757.1:p.Gln788Arg, XP_047299757.1:p.Gln788Leu, XP_047299693.1:p.Gln771Arg, XP_047299693.1:p.Gln771Leu, XP_047299791.1:p.Gln513Arg, XP_047299791.1:p.Gln513Leu

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