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Items: 1 to 20 of 773

1.

rs1490283677 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:137940333 (GRCh38)
    5:137276022 (GRCh37)
    Canonical SPDI:
    NC_000005.10:137940332:C:T
    Gene:
    PKD2L2 (Varview), FAM13B (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.137940333C>T, NC_000005.9:g.137276022C>T, NM_016603.4:c.2640G>A, NM_016603.3:c.2640G>A, NM_016603.2:c.2640G>A, NM_014386.4:c.*186C>T, NM_014386.3:c.*186C>T, NM_001101800.3:c.2556G>A, NM_001101800.2:c.2556G>A, NM_001101800.1:c.2556G>A, NM_001101801.3:c.2268G>A, NM_001101801.2:c.2268G>A, NM_001101801.1:c.2268G>A, XM_011543449.2:c.2706G>A, XM_011543449.1:c.2706G>A, XM_017009549.2:c.2640G>A, XM_017009549.1:c.2640G>A, XM_006714648.2:c.2706G>A, XM_006714648.1:c.2706G>A, XM_024446107.2:c.2706G>A, XM_024446107.1:c.2706G>A, XM_011543448.2:c.2706G>A, XM_011543448.1:c.2706G>A, XM_011543450.2:c.2706G>A, XM_011543450.1:c.2706G>A, XM_017009550.2:c.2640G>A, XM_017009550.1:c.2640G>A, NM_001258449.2:c.*555C>T, NM_001258449.1:c.*555C>T, NM_001258448.2:c.*261C>T, NM_001258448.1:c.*261C>T, XM_047417282.1:c.2706G>A, NM_001385921.1:c.2640G>A, NR_169825.1:n.3230G>A, XM_047417285.1:c.2622G>A, NM_001385994.1:c.2706G>A, NR_169823.1:n.3164G>A, XM_047417286.1:c.2556G>A, XM_047417288.1:c.2556G>A, NR_169826.1:n.3136G>A, NM_001385980.1:c.2622G>A, NR_169822.1:n.3120G>A, NM_001385976.1:c.2352G>A, NM_001385992.1:c.2550G>A, NM_001385999.1:c.2352G>A, NM_001385998.1:c.1860G>A, XM_047417283.1:c.2706G>A, NM_001385991.1:c.2460G>A, NM_001385977.1:c.2286G>A, NR_169814.1:n.2944G>A, XM_047417284.1:c.2640G>A, NM_001385868.1:c.2622G>A, NM_001385997.1:c.2400G>A, NR_169824.1:n.2883G>A, NM_001385978.1:c.1986G>A, NM_001385979.1:c.2202G>A, NR_169815.1:n.2857G>A, NM_001385867.1:c.2556G>A, XM_047417287.1:c.2556G>A, NM_001385874.1:c.2550G>A, NM_001385872.1:c.2352G>A, NM_001385995.1:c.2106G>A, NM_001385870.1:c.2466G>A, NM_001385866.1:c.2286G>A, NM_001385996.1:c.2070G>A, NM_001385873.1:c.2268G>A, NM_001385869.1:c.1830G>A

    2.

    rs1487805431 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      5:137948963 (GRCh38)
      5:137284652 (GRCh37)
      Canonical SPDI:
      NC_000005.10:137948962:C:
      Gene:
      FAM13B (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.137948963del, NC_000005.9:g.137284652del, NM_016603.4:c.2086del, NM_016603.3:c.2086del, NM_016603.2:c.2086del, NM_001101800.3:c.2086del, NM_001101800.2:c.2086del, NM_001101800.1:c.2086del, NM_001101801.3:c.1798del, NM_001101801.2:c.1798del, NM_001101801.1:c.1798del, XM_011543449.2:c.2152del, XM_011543449.1:c.2152del, XM_017009549.2:c.2086del, XM_017009549.1:c.2086del, XM_006714648.2:c.2152del, XM_006714648.1:c.2152del, XM_024446107.2:c.2152del, XM_024446107.1:c.2152del, XM_011543448.2:c.2152del, XM_011543448.1:c.2152del, XM_011543450.2:c.2152del, XM_011543450.1:c.2152del, XM_017009550.2:c.2086del, XM_017009550.1:c.2086del, XM_047417282.1:c.2152del, NM_001385921.1:c.2086del, NR_169825.1:n.2676del, XM_047417285.1:c.2152del, NM_001385994.1:c.2152del, NR_169823.1:n.2610del, XM_047417286.1:c.2086del, XM_047417288.1:c.2086del, NR_169826.1:n.2586del, NM_001385980.1:c.2152del, NR_169822.1:n.2566del, NM_001385976.1:c.1798del, NM_001385992.1:c.1996del, NM_001385999.1:c.1798del, NM_001385998.1:c.1306del, XM_047417283.1:c.2152del, NM_001385991.1:c.2086del, NM_001385977.1:c.1732del, NR_169814.1:n.2394del, XM_047417284.1:c.2086del, NM_001385868.1:c.2152del, NM_001385997.1:c.1930del, NR_169824.1:n.2329del, NM_001385978.1:c.1516del, NM_001385979.1:c.1732del, NR_169815.1:n.2387del, NM_001385867.1:c.2086del, XM_047417287.1:c.2086del, NM_001385874.1:c.1996del, NM_001385872.1:c.1798del, NM_001385995.1:c.1732del, NM_001385870.1:c.1996del, NM_001385866.1:c.1732del, NM_001385996.1:c.1516del, NM_001385873.1:c.1798del, NM_001385869.1:c.1360del, NP_057687.2:p.Asp696fs, NP_001095270.1:p.Asp696fs, NP_001095271.1:p.Asp600fs, XP_011541751.1:p.Asp718fs, XP_016865038.1:p.Asp696fs, XP_006714711.1:p.Asp718fs, XP_024301875.1:p.Asp718fs, XP_011541750.1:p.Asp718fs, XP_011541752.1:p.Asp718fs, XP_016865039.1:p.Asp696fs, XP_047273238.1:p.Asp718fs, NP_001372850.1:p.Asp696fs, XP_047273241.1:p.Asp718fs, NP_001372923.1:p.Asp718fs, XP_047273242.1:p.Asp696fs, XP_047273244.1:p.Asp696fs, NP_001372909.1:p.Asp718fs, NP_001372905.1:p.Asp600fs, NP_001372921.1:p.Asp666fs, NP_001372928.1:p.Asp600fs, NP_001372927.1:p.Asp436fs, XP_047273239.1:p.Asp718fs, NP_001372920.1:p.Asp696fs, NP_001372906.1:p.Asp578fs, XP_047273240.1:p.Asp696fs, NP_001372797.1:p.Asp718fs, NP_001372926.1:p.Asp644fs, NP_001372907.1:p.Asp506fs, NP_001372908.1:p.Asp578fs, NP_001372796.1:p.Asp696fs, XP_047273243.1:p.Asp696fs, NP_001372803.1:p.Asp666fs, NP_001372801.1:p.Asp600fs, NP_001372924.1:p.Asp578fs, NP_001372799.1:p.Asp666fs, NP_001372795.1:p.Asp578fs, NP_001372925.1:p.Asp506fs, NP_001372802.1:p.Asp600fs, NP_001372798.1:p.Asp454fs

      3.

      rs1486238193 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:137988312 (GRCh38)
        5:137324001 (GRCh37)
        Canonical SPDI:
        NC_000005.10:137988311:G:A
        Gene:
        FAM13B (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000005.10:g.137988312G>A, NC_000005.9:g.137324001G>A, NM_016603.4:c.852C>T, NM_016603.3:c.852C>T, NM_016603.2:c.852C>T, NM_001101800.3:c.852C>T, NM_001101800.2:c.852C>T, NM_001101800.1:c.852C>T, NM_001101801.3:c.498C>T, NM_001101801.2:c.498C>T, NM_001101801.1:c.498C>T, XM_011543449.2:c.852C>T, XM_011543449.1:c.852C>T, XM_017009549.2:c.852C>T, XM_017009549.1:c.852C>T, XM_006714648.2:c.852C>T, XM_006714648.1:c.852C>T, XM_024446107.2:c.852C>T, XM_024446107.1:c.852C>T, XM_011543448.2:c.852C>T, XM_011543448.1:c.852C>T, XM_011543450.2:c.852C>T, XM_011543450.1:c.852C>T, XM_017009550.2:c.852C>T, XM_017009550.1:c.852C>T, XM_047417282.1:c.852C>T, NM_001385921.1:c.852C>T, NR_169825.1:n.1352C>T, XM_047417285.1:c.852C>T, NM_001385994.1:c.852C>T, NR_169823.1:n.1352C>T, XM_047417286.1:c.852C>T, XM_047417288.1:c.852C>T, NR_169826.1:n.1352C>T, NM_001385980.1:c.852C>T, NR_169822.1:n.1352C>T, NM_001385976.1:c.498C>T, NM_001385992.1:c.852C>T, NM_001385999.1:c.498C>T, NM_001385998.1:c.72C>T, XM_047417283.1:c.852C>T, NM_001385991.1:c.852C>T, NM_001385977.1:c.498C>T, NR_169814.1:n.1160C>T, XM_047417284.1:c.852C>T, NM_001385868.1:c.852C>T, NM_001385997.1:c.852C>T, NR_169824.1:n.1160C>T, NM_001385978.1:c.282C>T, NM_001385979.1:c.498C>T, NR_169815.1:n.1160C>T, NM_001385867.1:c.852C>T, XM_047417287.1:c.852C>T, NM_001385874.1:c.852C>T, NM_001385872.1:c.498C>T, NM_001385995.1:c.498C>T, NM_001385870.1:c.852C>T, NM_001385866.1:c.498C>T, NM_001385996.1:c.282C>T, NM_001385873.1:c.498C>T, NM_001385869.1:c.282C>T

        4.

        rs1485447467 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          5:137959739 (GRCh38)
          5:137295428 (GRCh37)
          Canonical SPDI:
          NC_000005.10:137959738:A:T
          Gene:
          FAM13B (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000094/1 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (GnomAD_exomes)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000005.10:g.137959739A>T, NC_000005.9:g.137295428A>T, NM_016603.4:c.1318T>A, NM_016603.3:c.1318T>A, NM_016603.2:c.1318T>A, NM_001101800.3:c.1318T>A, NM_001101800.2:c.1318T>A, NM_001101800.1:c.1318T>A, NM_001101801.3:c.964T>A, NM_001101801.2:c.964T>A, NM_001101801.1:c.964T>A, XM_011543449.2:c.1318T>A, XM_011543449.1:c.1318T>A, XM_017009549.2:c.1318T>A, XM_017009549.1:c.1318T>A, XM_006714648.2:c.1318T>A, XM_006714648.1:c.1318T>A, XM_024446107.2:c.1318T>A, XM_024446107.1:c.1318T>A, XM_011543448.2:c.1318T>A, XM_011543448.1:c.1318T>A, XM_011543450.2:c.1318T>A, XM_011543450.1:c.1318T>A, XM_017009550.2:c.1318T>A, XM_017009550.1:c.1318T>A, XM_047417282.1:c.1318T>A, NM_001385921.1:c.1318T>A, NR_169825.1:n.1818T>A, XM_047417285.1:c.1318T>A, NM_001385994.1:c.1318T>A, NR_169823.1:n.1818T>A, XM_047417286.1:c.1318T>A, XM_047417288.1:c.1318T>A, NR_169826.1:n.1818T>A, NM_001385980.1:c.1318T>A, NR_169822.1:n.1818T>A, NM_001385976.1:c.964T>A, NM_001385992.1:c.1318T>A, NM_001385999.1:c.964T>A, NM_001385998.1:c.538T>A, XM_047417283.1:c.1318T>A, NM_001385991.1:c.1318T>A, NM_001385977.1:c.964T>A, NR_169814.1:n.1626T>A, XM_047417284.1:c.1318T>A, NM_001385868.1:c.1318T>A, NM_001385997.1:c.1162T>A, NR_169824.1:n.1561T>A, NM_001385978.1:c.748T>A, NM_001385979.1:c.964T>A, NR_169815.1:n.1619T>A, NM_001385867.1:c.1318T>A, XM_047417287.1:c.1318T>A, NM_001385874.1:c.1162T>A, NM_001385872.1:c.964T>A, NM_001385995.1:c.964T>A, NM_001385870.1:c.1162T>A, NM_001385866.1:c.964T>A, NM_001385996.1:c.748T>A, NM_001385873.1:c.964T>A, NM_001385869.1:c.592T>A, NP_057687.2:p.Leu440Met, NP_001095270.1:p.Leu440Met, NP_001095271.1:p.Leu322Met, XP_011541751.1:p.Leu440Met, XP_016865038.1:p.Leu440Met, XP_006714711.1:p.Leu440Met, XP_024301875.1:p.Leu440Met, XP_011541750.1:p.Leu440Met, XP_011541752.1:p.Leu440Met, XP_016865039.1:p.Leu440Met, XP_047273238.1:p.Leu440Met, NP_001372850.1:p.Leu440Met, XP_047273241.1:p.Leu440Met, NP_001372923.1:p.Leu440Met, XP_047273242.1:p.Leu440Met, XP_047273244.1:p.Leu440Met, NP_001372909.1:p.Leu440Met, NP_001372905.1:p.Leu322Met, NP_001372921.1:p.Leu440Met, NP_001372928.1:p.Leu322Met, NP_001372927.1:p.Leu180Met, XP_047273239.1:p.Leu440Met, NP_001372920.1:p.Leu440Met, NP_001372906.1:p.Leu322Met, XP_047273240.1:p.Leu440Met, NP_001372797.1:p.Leu440Met, NP_001372926.1:p.Leu388Met, NP_001372907.1:p.Leu250Met, NP_001372908.1:p.Leu322Met, NP_001372796.1:p.Leu440Met, XP_047273243.1:p.Leu440Met, NP_001372803.1:p.Leu388Met, NP_001372801.1:p.Leu322Met, NP_001372924.1:p.Leu322Met, NP_001372799.1:p.Leu388Met, NP_001372795.1:p.Leu322Met, NP_001372925.1:p.Leu250Met, NP_001372802.1:p.Leu322Met, NP_001372798.1:p.Leu198Met

          5.

          rs1484208910 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            5:137953362 (GRCh38)
            5:137289051 (GRCh37)
            Canonical SPDI:
            NC_000005.10:137953361:G:C
            Gene:
            FAM13B (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.137953362G>C, NC_000005.9:g.137289051G>C, NM_016603.4:c.1756C>G, NM_016603.3:c.1756C>G, NM_016603.2:c.1756C>G, NM_001101800.3:c.1756C>G, NM_001101800.2:c.1756C>G, NM_001101800.1:c.1756C>G, NM_001101801.3:c.1468C>G, NM_001101801.2:c.1468C>G, NM_001101801.1:c.1468C>G, XM_011543449.2:c.1822C>G, XM_011543449.1:c.1822C>G, XM_017009549.2:c.1756C>G, XM_017009549.1:c.1756C>G, XM_006714648.2:c.1822C>G, XM_006714648.1:c.1822C>G, XM_024446107.2:c.1822C>G, XM_024446107.1:c.1822C>G, XM_011543448.2:c.1822C>G, XM_011543448.1:c.1822C>G, XM_011543450.2:c.1822C>G, XM_011543450.1:c.1822C>G, XM_017009550.2:c.1756C>G, XM_017009550.1:c.1756C>G, XM_047417282.1:c.1822C>G, NM_001385921.1:c.1756C>G, NR_169825.1:n.2346C>G, XM_047417285.1:c.1822C>G, NM_001385994.1:c.1822C>G, NR_169823.1:n.2280C>G, XM_047417286.1:c.1756C>G, XM_047417288.1:c.1756C>G, NR_169826.1:n.2256C>G, NM_001385980.1:c.1822C>G, NR_169822.1:n.2236C>G, NM_001385976.1:c.1468C>G, NM_001385992.1:c.1756C>G, NM_001385999.1:c.1468C>G, NM_001385998.1:c.976C>G, XM_047417283.1:c.1822C>G, NM_001385991.1:c.1756C>G, NM_001385977.1:c.1402C>G, NR_169814.1:n.2064C>G, XM_047417284.1:c.1756C>G, NM_001385868.1:c.1822C>G, NM_001385997.1:c.1600C>G, NR_169824.1:n.1999C>G, NM_001385978.1:c.1186C>G, NM_001385979.1:c.1402C>G, NR_169815.1:n.2057C>G, NM_001385867.1:c.1756C>G, XM_047417287.1:c.1756C>G, NM_001385874.1:c.1666C>G, NM_001385872.1:c.1468C>G, NM_001385995.1:c.1402C>G, NM_001385870.1:c.1666C>G, NM_001385866.1:c.1402C>G, NM_001385996.1:c.1186C>G, NM_001385873.1:c.1468C>G, NM_001385869.1:c.1030C>G, NP_057687.2:p.Gln586Glu, NP_001095270.1:p.Gln586Glu, NP_001095271.1:p.Gln490Glu, XP_011541751.1:p.Gln608Glu, XP_016865038.1:p.Gln586Glu, XP_006714711.1:p.Gln608Glu, XP_024301875.1:p.Gln608Glu, XP_011541750.1:p.Gln608Glu, XP_011541752.1:p.Gln608Glu, XP_016865039.1:p.Gln586Glu, XP_047273238.1:p.Gln608Glu, NP_001372850.1:p.Gln586Glu, XP_047273241.1:p.Gln608Glu, NP_001372923.1:p.Gln608Glu, XP_047273242.1:p.Gln586Glu, XP_047273244.1:p.Gln586Glu, NP_001372909.1:p.Gln608Glu, NP_001372905.1:p.Gln490Glu, NP_001372921.1:p.Gln586Glu, NP_001372928.1:p.Gln490Glu, NP_001372927.1:p.Gln326Glu, XP_047273239.1:p.Gln608Glu, NP_001372920.1:p.Gln586Glu, NP_001372906.1:p.Gln468Glu, XP_047273240.1:p.Gln586Glu, NP_001372797.1:p.Gln608Glu, NP_001372926.1:p.Gln534Glu, NP_001372907.1:p.Gln396Glu, NP_001372908.1:p.Gln468Glu, NP_001372796.1:p.Gln586Glu, XP_047273243.1:p.Gln586Glu, NP_001372803.1:p.Gln556Glu, NP_001372801.1:p.Gln490Glu, NP_001372924.1:p.Gln468Glu, NP_001372799.1:p.Gln556Glu, NP_001372795.1:p.Gln468Glu, NP_001372925.1:p.Gln396Glu, NP_001372802.1:p.Gln490Glu, NP_001372798.1:p.Gln344Glu

            6.

            rs1484077861 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              5:137959726 (GRCh38)
              5:137295415 (GRCh37)
              Canonical SPDI:
              NC_000005.10:137959725:G:T
              Gene:
              FAM13B (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.137959726G>T, NC_000005.9:g.137295415G>T, NM_016603.4:c.1331C>A, NM_016603.3:c.1331C>A, NM_016603.2:c.1331C>A, NM_001101800.3:c.1331C>A, NM_001101800.2:c.1331C>A, NM_001101800.1:c.1331C>A, NM_001101801.3:c.977C>A, NM_001101801.2:c.977C>A, NM_001101801.1:c.977C>A, XM_011543449.2:c.1331C>A, XM_011543449.1:c.1331C>A, XM_017009549.2:c.1331C>A, XM_017009549.1:c.1331C>A, XM_006714648.2:c.1331C>A, XM_006714648.1:c.1331C>A, XM_024446107.2:c.1331C>A, XM_024446107.1:c.1331C>A, XM_011543448.2:c.1331C>A, XM_011543448.1:c.1331C>A, XM_011543450.2:c.1331C>A, XM_011543450.1:c.1331C>A, XM_017009550.2:c.1331C>A, XM_017009550.1:c.1331C>A, XM_047417282.1:c.1331C>A, NM_001385921.1:c.1331C>A, NR_169825.1:n.1831C>A, XM_047417285.1:c.1331C>A, NM_001385994.1:c.1331C>A, NR_169823.1:n.1831C>A, XM_047417286.1:c.1331C>A, XM_047417288.1:c.1331C>A, NR_169826.1:n.1831C>A, NM_001385980.1:c.1331C>A, NR_169822.1:n.1831C>A, NM_001385976.1:c.977C>A, NM_001385992.1:c.1331C>A, NM_001385999.1:c.977C>A, NM_001385998.1:c.551C>A, XM_047417283.1:c.1331C>A, NM_001385991.1:c.1331C>A, NM_001385977.1:c.977C>A, NR_169814.1:n.1639C>A, XM_047417284.1:c.1331C>A, NM_001385868.1:c.1331C>A, NM_001385997.1:c.1175C>A, NR_169824.1:n.1574C>A, NM_001385978.1:c.761C>A, NM_001385979.1:c.977C>A, NR_169815.1:n.1632C>A, NM_001385867.1:c.1331C>A, XM_047417287.1:c.1331C>A, NM_001385874.1:c.1175C>A, NM_001385872.1:c.977C>A, NM_001385995.1:c.977C>A, NM_001385870.1:c.1175C>A, NM_001385866.1:c.977C>A, NM_001385996.1:c.761C>A, NM_001385873.1:c.977C>A, NM_001385869.1:c.605C>A, NP_057687.2:p.Thr444Asn, NP_001095270.1:p.Thr444Asn, NP_001095271.1:p.Thr326Asn, XP_011541751.1:p.Thr444Asn, XP_016865038.1:p.Thr444Asn, XP_006714711.1:p.Thr444Asn, XP_024301875.1:p.Thr444Asn, XP_011541750.1:p.Thr444Asn, XP_011541752.1:p.Thr444Asn, XP_016865039.1:p.Thr444Asn, XP_047273238.1:p.Thr444Asn, NP_001372850.1:p.Thr444Asn, XP_047273241.1:p.Thr444Asn, NP_001372923.1:p.Thr444Asn, XP_047273242.1:p.Thr444Asn, XP_047273244.1:p.Thr444Asn, NP_001372909.1:p.Thr444Asn, NP_001372905.1:p.Thr326Asn, NP_001372921.1:p.Thr444Asn, NP_001372928.1:p.Thr326Asn, NP_001372927.1:p.Thr184Asn, XP_047273239.1:p.Thr444Asn, NP_001372920.1:p.Thr444Asn, NP_001372906.1:p.Thr326Asn, XP_047273240.1:p.Thr444Asn, NP_001372797.1:p.Thr444Asn, NP_001372926.1:p.Thr392Asn, NP_001372907.1:p.Thr254Asn, NP_001372908.1:p.Thr326Asn, NP_001372796.1:p.Thr444Asn, XP_047273243.1:p.Thr444Asn, NP_001372803.1:p.Thr392Asn, NP_001372801.1:p.Thr326Asn, NP_001372924.1:p.Thr326Asn, NP_001372799.1:p.Thr392Asn, NP_001372795.1:p.Thr326Asn, NP_001372925.1:p.Thr254Asn, NP_001372802.1:p.Thr326Asn, NP_001372798.1:p.Thr202Asn

              7.

              rs1483702465 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:137949119 (GRCh38)
                5:137284808 (GRCh37)
                Canonical SPDI:
                NC_000005.10:137949118:G:A
                Gene:
                FAM13B (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                A=0.000015/4 (TOPMED)
                HGVS:
                NC_000005.10:g.137949119G>A, NC_000005.9:g.137284808G>A, NM_016603.4:c.1930C>T, NM_016603.3:c.1930C>T, NM_016603.2:c.1930C>T, NM_001101800.3:c.1930C>T, NM_001101800.2:c.1930C>T, NM_001101800.1:c.1930C>T, NM_001101801.3:c.1642C>T, NM_001101801.2:c.1642C>T, NM_001101801.1:c.1642C>T, XM_011543449.2:c.1996C>T, XM_011543449.1:c.1996C>T, XM_017009549.2:c.1930C>T, XM_017009549.1:c.1930C>T, XM_006714648.2:c.1996C>T, XM_006714648.1:c.1996C>T, XM_024446107.2:c.1996C>T, XM_024446107.1:c.1996C>T, XM_011543448.2:c.1996C>T, XM_011543448.1:c.1996C>T, XM_011543450.2:c.1996C>T, XM_011543450.1:c.1996C>T, XM_017009550.2:c.1930C>T, XM_017009550.1:c.1930C>T, XM_047417282.1:c.1996C>T, NM_001385921.1:c.1930C>T, NR_169825.1:n.2520C>T, XM_047417285.1:c.1996C>T, NM_001385994.1:c.1996C>T, NR_169823.1:n.2454C>T, XM_047417286.1:c.1930C>T, XM_047417288.1:c.1930C>T, NR_169826.1:n.2430C>T, NM_001385980.1:c.1996C>T, NR_169822.1:n.2410C>T, NM_001385976.1:c.1642C>T, NM_001385999.1:c.1642C>T, NM_001385998.1:c.1150C>T, XM_047417283.1:c.1996C>T, NM_001385991.1:c.1930C>T, NM_001385977.1:c.1576C>T, NR_169814.1:n.2238C>T, XM_047417284.1:c.1930C>T, NM_001385868.1:c.1996C>T, NM_001385997.1:c.1774C>T, NR_169824.1:n.2173C>T, NM_001385978.1:c.1360C>T, NM_001385979.1:c.1576C>T, NR_169815.1:n.2231C>T, NM_001385867.1:c.1930C>T, XM_047417287.1:c.1930C>T, NM_001385874.1:c.1840C>T, NM_001385872.1:c.1642C>T, NM_001385995.1:c.1576C>T, NM_001385870.1:c.1840C>T, NM_001385866.1:c.1576C>T, NM_001385996.1:c.1360C>T, NM_001385873.1:c.1642C>T, NM_001385869.1:c.1204C>T, NP_057687.2:p.Pro644Ser, NP_001095270.1:p.Pro644Ser, NP_001095271.1:p.Pro548Ser, XP_011541751.1:p.Pro666Ser, XP_016865038.1:p.Pro644Ser, XP_006714711.1:p.Pro666Ser, XP_024301875.1:p.Pro666Ser, XP_011541750.1:p.Pro666Ser, XP_011541752.1:p.Pro666Ser, XP_016865039.1:p.Pro644Ser, XP_047273238.1:p.Pro666Ser, NP_001372850.1:p.Pro644Ser, XP_047273241.1:p.Pro666Ser, NP_001372923.1:p.Pro666Ser, XP_047273242.1:p.Pro644Ser, XP_047273244.1:p.Pro644Ser, NP_001372909.1:p.Pro666Ser, NP_001372905.1:p.Pro548Ser, NP_001372928.1:p.Pro548Ser, NP_001372927.1:p.Pro384Ser, XP_047273239.1:p.Pro666Ser, NP_001372920.1:p.Pro644Ser, NP_001372906.1:p.Pro526Ser, XP_047273240.1:p.Pro644Ser, NP_001372797.1:p.Pro666Ser, NP_001372926.1:p.Pro592Ser, NP_001372907.1:p.Pro454Ser, NP_001372908.1:p.Pro526Ser, NP_001372796.1:p.Pro644Ser, XP_047273243.1:p.Pro644Ser, NP_001372803.1:p.Pro614Ser, NP_001372801.1:p.Pro548Ser, NP_001372924.1:p.Pro526Ser, NP_001372799.1:p.Pro614Ser, NP_001372795.1:p.Pro526Ser, NP_001372925.1:p.Pro454Ser, NP_001372802.1:p.Pro548Ser, NP_001372798.1:p.Pro402Ser

                8.

                rs1482565627 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  5:138007078 (GRCh38)
                  5:137342767 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:138007077:C:A
                  Gene:
                  FAM13B (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000177/3 (TOMMO)
                  HGVS:
                  NC_000005.10:g.138007078C>A, NC_000005.9:g.137342767C>A, NM_016603.4:c.760G>T, NM_016603.3:c.760G>T, NM_016603.2:c.760G>T, NM_001101800.3:c.760G>T, NM_001101800.2:c.760G>T, NM_001101800.1:c.760G>T, NM_001101801.3:c.406G>T, NM_001101801.2:c.406G>T, NM_001101801.1:c.406G>T, XM_011543449.2:c.760G>T, XM_011543449.1:c.760G>T, XM_017009549.2:c.760G>T, XM_017009549.1:c.760G>T, XM_006714648.2:c.760G>T, XM_006714648.1:c.760G>T, XM_024446107.2:c.760G>T, XM_024446107.1:c.760G>T, XM_011543448.2:c.760G>T, XM_011543448.1:c.760G>T, XM_011543450.2:c.760G>T, XM_011543450.1:c.760G>T, XM_017009550.2:c.760G>T, XM_017009550.1:c.760G>T, XM_047417282.1:c.760G>T, NM_001385921.1:c.760G>T, NR_169825.1:n.1260G>T, XM_047417285.1:c.760G>T, NM_001385994.1:c.760G>T, NR_169823.1:n.1260G>T, XM_047417286.1:c.760G>T, XM_047417288.1:c.760G>T, NR_169826.1:n.1260G>T, NM_001385980.1:c.760G>T, NR_169822.1:n.1260G>T, NM_001385976.1:c.406G>T, NM_001385992.1:c.760G>T, NM_001385999.1:c.406G>T, NM_001385998.1:c.-21G>T, XM_047417283.1:c.760G>T, NM_001385991.1:c.760G>T, NM_001385977.1:c.406G>T, NR_169814.1:n.1068G>T, XM_047417284.1:c.760G>T, NM_001385868.1:c.760G>T, NM_001385997.1:c.760G>T, NR_169824.1:n.1068G>T, NM_001385978.1:c.190G>T, NM_001385979.1:c.406G>T, NR_169815.1:n.1068G>T, NM_001385867.1:c.760G>T, XM_047417287.1:c.760G>T, NM_001385874.1:c.760G>T, NM_001385872.1:c.406G>T, NM_001385995.1:c.406G>T, NM_001385870.1:c.760G>T, NM_001385866.1:c.406G>T, NM_001385996.1:c.190G>T, NM_001385873.1:c.406G>T, NM_001385869.1:c.190G>T, NP_057687.2:p.Gly254Cys, NP_001095270.1:p.Gly254Cys, NP_001095271.1:p.Gly136Cys, XP_011541751.1:p.Gly254Cys, XP_016865038.1:p.Gly254Cys, XP_006714711.1:p.Gly254Cys, XP_024301875.1:p.Gly254Cys, XP_011541750.1:p.Gly254Cys, XP_011541752.1:p.Gly254Cys, XP_016865039.1:p.Gly254Cys, XP_047273238.1:p.Gly254Cys, NP_001372850.1:p.Gly254Cys, XP_047273241.1:p.Gly254Cys, NP_001372923.1:p.Gly254Cys, XP_047273242.1:p.Gly254Cys, XP_047273244.1:p.Gly254Cys, NP_001372909.1:p.Gly254Cys, NP_001372905.1:p.Gly136Cys, NP_001372921.1:p.Gly254Cys, NP_001372928.1:p.Gly136Cys, XP_047273239.1:p.Gly254Cys, NP_001372920.1:p.Gly254Cys, NP_001372906.1:p.Gly136Cys, XP_047273240.1:p.Gly254Cys, NP_001372797.1:p.Gly254Cys, NP_001372926.1:p.Gly254Cys, NP_001372907.1:p.Gly64Cys, NP_001372908.1:p.Gly136Cys, NP_001372796.1:p.Gly254Cys, XP_047273243.1:p.Gly254Cys, NP_001372803.1:p.Gly254Cys, NP_001372801.1:p.Gly136Cys, NP_001372924.1:p.Gly136Cys, NP_001372799.1:p.Gly254Cys, NP_001372795.1:p.Gly136Cys, NP_001372925.1:p.Gly64Cys, NP_001372802.1:p.Gly136Cys, NP_001372798.1:p.Gly64Cys

                  9.

                  rs1482183500 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    5:137987554 (GRCh38)
                    5:137323243 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:137987553:A:G
                    Gene:
                    FAM13B (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000005.10:g.137987554A>G, NC_000005.9:g.137323243A>G, NM_016603.4:c.953T>C, NM_016603.3:c.953T>C, NM_016603.2:c.953T>C, NM_001101800.3:c.953T>C, NM_001101800.2:c.953T>C, NM_001101800.1:c.953T>C, NM_001101801.3:c.599T>C, NM_001101801.2:c.599T>C, NM_001101801.1:c.599T>C, XM_011543449.2:c.953T>C, XM_011543449.1:c.953T>C, XM_017009549.2:c.953T>C, XM_017009549.1:c.953T>C, XM_006714648.2:c.953T>C, XM_006714648.1:c.953T>C, XM_024446107.2:c.953T>C, XM_024446107.1:c.953T>C, XM_011543448.2:c.953T>C, XM_011543448.1:c.953T>C, XM_011543450.2:c.953T>C, XM_011543450.1:c.953T>C, XM_017009550.2:c.953T>C, XM_017009550.1:c.953T>C, XM_047417282.1:c.953T>C, NM_001385921.1:c.953T>C, NR_169825.1:n.1453T>C, XM_047417285.1:c.953T>C, NM_001385994.1:c.953T>C, NR_169823.1:n.1453T>C, XM_047417286.1:c.953T>C, XM_047417288.1:c.953T>C, NR_169826.1:n.1453T>C, NM_001385980.1:c.953T>C, NR_169822.1:n.1453T>C, NM_001385976.1:c.599T>C, NM_001385992.1:c.953T>C, NM_001385999.1:c.599T>C, NM_001385998.1:c.173T>C, XM_047417283.1:c.953T>C, NM_001385991.1:c.953T>C, NM_001385977.1:c.599T>C, NR_169814.1:n.1261T>C, XM_047417284.1:c.953T>C, NM_001385868.1:c.953T>C, NR_169824.1:n.1261T>C, NM_001385978.1:c.383T>C, NM_001385979.1:c.599T>C, NR_169815.1:n.1261T>C, NM_001385867.1:c.953T>C, XM_047417287.1:c.953T>C, NM_001385872.1:c.599T>C, NM_001385995.1:c.599T>C, NM_001385866.1:c.599T>C, NM_001385996.1:c.383T>C, NM_001385873.1:c.599T>C, NP_057687.2:p.Ile318Thr, NP_001095270.1:p.Ile318Thr, NP_001095271.1:p.Ile200Thr, XP_011541751.1:p.Ile318Thr, XP_016865038.1:p.Ile318Thr, XP_006714711.1:p.Ile318Thr, XP_024301875.1:p.Ile318Thr, XP_011541750.1:p.Ile318Thr, XP_011541752.1:p.Ile318Thr, XP_016865039.1:p.Ile318Thr, XP_047273238.1:p.Ile318Thr, NP_001372850.1:p.Ile318Thr, XP_047273241.1:p.Ile318Thr, NP_001372923.1:p.Ile318Thr, XP_047273242.1:p.Ile318Thr, XP_047273244.1:p.Ile318Thr, NP_001372909.1:p.Ile318Thr, NP_001372905.1:p.Ile200Thr, NP_001372921.1:p.Ile318Thr, NP_001372928.1:p.Ile200Thr, NP_001372927.1:p.Ile58Thr, XP_047273239.1:p.Ile318Thr, NP_001372920.1:p.Ile318Thr, NP_001372906.1:p.Ile200Thr, XP_047273240.1:p.Ile318Thr, NP_001372797.1:p.Ile318Thr, NP_001372907.1:p.Ile128Thr, NP_001372908.1:p.Ile200Thr, NP_001372796.1:p.Ile318Thr, XP_047273243.1:p.Ile318Thr, NP_001372801.1:p.Ile200Thr, NP_001372924.1:p.Ile200Thr, NP_001372795.1:p.Ile200Thr, NP_001372925.1:p.Ile128Thr, NP_001372802.1:p.Ile200Thr

                    10.

                    rs1482090673 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      5:138011941 (GRCh38)
                      5:137347630 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:138011940:A:G
                      Gene:
                      FAM13B (Varview)
                      Functional Consequence:
                      intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000111/1 (ALFA)
                      G=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.138011941A>G, NC_000005.9:g.137347630A>G, NM_016603.4:c.375T>C, NM_016603.3:c.375T>C, NM_016603.2:c.375T>C, NM_001101800.3:c.375T>C, NM_001101800.2:c.375T>C, NM_001101800.1:c.375T>C, NM_001101801.3:c.21T>C, NM_001101801.2:c.21T>C, NM_001101801.1:c.21T>C, XM_011543449.2:c.375T>C, XM_011543449.1:c.375T>C, XM_017009549.2:c.375T>C, XM_017009549.1:c.375T>C, XM_006714648.2:c.375T>C, XM_006714648.1:c.375T>C, XM_024446107.2:c.375T>C, XM_024446107.1:c.375T>C, XM_011543448.2:c.375T>C, XM_011543448.1:c.375T>C, XM_011543450.2:c.375T>C, XM_011543450.1:c.375T>C, XM_017009550.2:c.375T>C, XM_017009550.1:c.375T>C, XM_047417282.1:c.375T>C, NM_001385921.1:c.375T>C, NR_169825.1:n.875T>C, XM_047417285.1:c.375T>C, NM_001385994.1:c.375T>C, NR_169823.1:n.875T>C, XM_047417286.1:c.375T>C, XM_047417288.1:c.375T>C, NR_169826.1:n.875T>C, NM_001385980.1:c.375T>C, NR_169822.1:n.875T>C, NM_001385976.1:c.21T>C, NM_001385992.1:c.375T>C, NM_001385999.1:c.21T>C, NM_001385998.1:c.-264T>C, XM_047417283.1:c.375T>C, NM_001385991.1:c.375T>C, NM_001385977.1:c.21T>C, NR_169814.1:n.683T>C, XM_047417284.1:c.375T>C, NM_001385868.1:c.375T>C, NM_001385997.1:c.375T>C, NR_169824.1:n.683T>C, NM_001385979.1:c.21T>C, NR_169815.1:n.683T>C, NM_001385867.1:c.375T>C, XM_047417287.1:c.375T>C, NM_001385874.1:c.375T>C, NM_001385872.1:c.21T>C, NM_001385995.1:c.21T>C, NM_001385870.1:c.375T>C, NM_001385866.1:c.21T>C, NM_001385996.1:c.-196T>C, NM_001385873.1:c.21T>C, NM_001385869.1:c.-196T>C

                      11.

                      rs1481496049 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        5:137954196 (GRCh38)
                        5:137289885 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:137954195:T:G
                        Gene:
                        FAM13B (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000005.10:g.137954196T>G, NC_000005.9:g.137289885T>G, NM_016603.4:c.1622A>C, NM_016603.3:c.1622A>C, NM_016603.2:c.1622A>C, NM_001101800.3:c.1622A>C, NM_001101800.2:c.1622A>C, NM_001101800.1:c.1622A>C, NM_001101801.3:c.1334A>C, NM_001101801.2:c.1334A>C, NM_001101801.1:c.1334A>C, XM_011543449.2:c.1688A>C, XM_011543449.1:c.1688A>C, XM_017009549.2:c.1622A>C, XM_017009549.1:c.1622A>C, XM_006714648.2:c.1688A>C, XM_006714648.1:c.1688A>C, XM_024446107.2:c.1688A>C, XM_024446107.1:c.1688A>C, XM_011543448.2:c.1688A>C, XM_011543448.1:c.1688A>C, XM_011543450.2:c.1688A>C, XM_011543450.1:c.1688A>C, XM_017009550.2:c.1622A>C, XM_017009550.1:c.1622A>C, XM_047417282.1:c.1688A>C, NM_001385921.1:c.1622A>C, NR_169825.1:n.2188A>C, XM_047417285.1:c.1688A>C, NM_001385994.1:c.1688A>C, NR_169823.1:n.2122A>C, XM_047417286.1:c.1622A>C, XM_047417288.1:c.1622A>C, NR_169826.1:n.2122A>C, NM_001385980.1:c.1688A>C, NR_169822.1:n.2102A>C, NM_001385976.1:c.1334A>C, NM_001385992.1:c.1622A>C, NM_001385999.1:c.1334A>C, NM_001385998.1:c.842A>C, XM_047417283.1:c.1688A>C, NM_001385991.1:c.1622A>C, NM_001385977.1:c.1268A>C, NR_169814.1:n.1930A>C, XM_047417284.1:c.1622A>C, NM_001385868.1:c.1688A>C, NM_001385997.1:c.1466A>C, NR_169824.1:n.1865A>C, NM_001385978.1:c.1052A>C, NM_001385979.1:c.1268A>C, NR_169815.1:n.1923A>C, NM_001385867.1:c.1622A>C, XM_047417287.1:c.1622A>C, NM_001385874.1:c.1532A>C, NM_001385872.1:c.1334A>C, NM_001385995.1:c.1268A>C, NM_001385870.1:c.1532A>C, NM_001385866.1:c.1268A>C, NM_001385996.1:c.1052A>C, NM_001385873.1:c.1334A>C, NM_001385869.1:c.896A>C, NP_057687.2:p.Asp541Ala, NP_001095270.1:p.Asp541Ala, NP_001095271.1:p.Asp445Ala, XP_011541751.1:p.Asp563Ala, XP_016865038.1:p.Asp541Ala, XP_006714711.1:p.Asp563Ala, XP_024301875.1:p.Asp563Ala, XP_011541750.1:p.Asp563Ala, XP_011541752.1:p.Asp563Ala, XP_016865039.1:p.Asp541Ala, XP_047273238.1:p.Asp563Ala, NP_001372850.1:p.Asp541Ala, XP_047273241.1:p.Asp563Ala, NP_001372923.1:p.Asp563Ala, XP_047273242.1:p.Asp541Ala, XP_047273244.1:p.Asp541Ala, NP_001372909.1:p.Asp563Ala, NP_001372905.1:p.Asp445Ala, NP_001372921.1:p.Asp541Ala, NP_001372928.1:p.Asp445Ala, NP_001372927.1:p.Asp281Ala, XP_047273239.1:p.Asp563Ala, NP_001372920.1:p.Asp541Ala, NP_001372906.1:p.Asp423Ala, XP_047273240.1:p.Asp541Ala, NP_001372797.1:p.Asp563Ala, NP_001372926.1:p.Asp489Ala, NP_001372907.1:p.Asp351Ala, NP_001372908.1:p.Asp423Ala, NP_001372796.1:p.Asp541Ala, XP_047273243.1:p.Asp541Ala, NP_001372803.1:p.Asp511Ala, NP_001372801.1:p.Asp445Ala, NP_001372924.1:p.Asp423Ala, NP_001372799.1:p.Asp511Ala, NP_001372795.1:p.Asp423Ala, NP_001372925.1:p.Asp351Ala, NP_001372802.1:p.Asp445Ala, NP_001372798.1:p.Asp299Ala

                        12.

                        rs1480900728 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          5:137959649 (GRCh38)
                          5:137295338 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:137959648:G:C
                          Gene:
                          FAM13B (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.137959649G>C, NC_000005.9:g.137295338G>C, NM_016603.4:c.1408C>G, NM_016603.3:c.1408C>G, NM_016603.2:c.1408C>G, NM_001101800.3:c.1408C>G, NM_001101800.2:c.1408C>G, NM_001101800.1:c.1408C>G, NM_001101801.3:c.1054C>G, NM_001101801.2:c.1054C>G, NM_001101801.1:c.1054C>G, XM_011543449.2:c.1408C>G, XM_011543449.1:c.1408C>G, XM_017009549.2:c.1408C>G, XM_017009549.1:c.1408C>G, XM_006714648.2:c.1408C>G, XM_006714648.1:c.1408C>G, XM_024446107.2:c.1408C>G, XM_024446107.1:c.1408C>G, XM_011543448.2:c.1408C>G, XM_011543448.1:c.1408C>G, XM_011543450.2:c.1408C>G, XM_011543450.1:c.1408C>G, XM_017009550.2:c.1408C>G, XM_017009550.1:c.1408C>G, XM_047417282.1:c.1408C>G, NM_001385921.1:c.1408C>G, NR_169825.1:n.1908C>G, XM_047417285.1:c.1408C>G, NM_001385994.1:c.1408C>G, NR_169823.1:n.1908C>G, XM_047417286.1:c.1408C>G, XM_047417288.1:c.1408C>G, NR_169826.1:n.1908C>G, NM_001385980.1:c.1408C>G, NR_169822.1:n.1908C>G, NM_001385976.1:c.1054C>G, NM_001385992.1:c.1408C>G, NM_001385999.1:c.1054C>G, NM_001385998.1:c.628C>G, XM_047417283.1:c.1408C>G, NM_001385991.1:c.1408C>G, NM_001385977.1:c.1054C>G, NR_169814.1:n.1716C>G, XM_047417284.1:c.1408C>G, NM_001385868.1:c.1408C>G, NM_001385997.1:c.1252C>G, NR_169824.1:n.1651C>G, NM_001385978.1:c.838C>G, NM_001385979.1:c.1054C>G, NR_169815.1:n.1709C>G, NM_001385867.1:c.1408C>G, XM_047417287.1:c.1408C>G, NM_001385874.1:c.1252C>G, NM_001385872.1:c.1054C>G, NM_001385995.1:c.1054C>G, NM_001385870.1:c.1252C>G, NM_001385866.1:c.1054C>G, NM_001385996.1:c.838C>G, NM_001385873.1:c.1054C>G, NM_001385869.1:c.682C>G, NP_057687.2:p.Leu470Val, NP_001095270.1:p.Leu470Val, NP_001095271.1:p.Leu352Val, XP_011541751.1:p.Leu470Val, XP_016865038.1:p.Leu470Val, XP_006714711.1:p.Leu470Val, XP_024301875.1:p.Leu470Val, XP_011541750.1:p.Leu470Val, XP_011541752.1:p.Leu470Val, XP_016865039.1:p.Leu470Val, XP_047273238.1:p.Leu470Val, NP_001372850.1:p.Leu470Val, XP_047273241.1:p.Leu470Val, NP_001372923.1:p.Leu470Val, XP_047273242.1:p.Leu470Val, XP_047273244.1:p.Leu470Val, NP_001372909.1:p.Leu470Val, NP_001372905.1:p.Leu352Val, NP_001372921.1:p.Leu470Val, NP_001372928.1:p.Leu352Val, NP_001372927.1:p.Leu210Val, XP_047273239.1:p.Leu470Val, NP_001372920.1:p.Leu470Val, NP_001372906.1:p.Leu352Val, XP_047273240.1:p.Leu470Val, NP_001372797.1:p.Leu470Val, NP_001372926.1:p.Leu418Val, NP_001372907.1:p.Leu280Val, NP_001372908.1:p.Leu352Val, NP_001372796.1:p.Leu470Val, XP_047273243.1:p.Leu470Val, NP_001372803.1:p.Leu418Val, NP_001372801.1:p.Leu352Val, NP_001372924.1:p.Leu352Val, NP_001372799.1:p.Leu418Val, NP_001372795.1:p.Leu352Val, NP_001372925.1:p.Leu280Val, NP_001372802.1:p.Leu352Val, NP_001372798.1:p.Leu228Val

                          13.

                          rs1480809789 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            5:137987543 (GRCh38)
                            5:137323232 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:137987542:G:T
                            Gene:
                            FAM13B (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.137987543G>T, NC_000005.9:g.137323232G>T, NM_016603.4:c.964C>A, NM_016603.3:c.964C>A, NM_016603.2:c.964C>A, NM_001101800.3:c.964C>A, NM_001101800.2:c.964C>A, NM_001101800.1:c.964C>A, NM_001101801.3:c.610C>A, NM_001101801.2:c.610C>A, NM_001101801.1:c.610C>A, XM_011543449.2:c.964C>A, XM_011543449.1:c.964C>A, XM_017009549.2:c.964C>A, XM_017009549.1:c.964C>A, XM_006714648.2:c.964C>A, XM_006714648.1:c.964C>A, XM_024446107.2:c.964C>A, XM_024446107.1:c.964C>A, XM_011543448.2:c.964C>A, XM_011543448.1:c.964C>A, XM_011543450.2:c.964C>A, XM_011543450.1:c.964C>A, XM_017009550.2:c.964C>A, XM_017009550.1:c.964C>A, XM_047417282.1:c.964C>A, NM_001385921.1:c.964C>A, NR_169825.1:n.1464C>A, XM_047417285.1:c.964C>A, NM_001385994.1:c.964C>A, NR_169823.1:n.1464C>A, XM_047417286.1:c.964C>A, XM_047417288.1:c.964C>A, NR_169826.1:n.1464C>A, NM_001385980.1:c.964C>A, NR_169822.1:n.1464C>A, NM_001385976.1:c.610C>A, NM_001385992.1:c.964C>A, NM_001385999.1:c.610C>A, NM_001385998.1:c.184C>A, XM_047417283.1:c.964C>A, NM_001385991.1:c.964C>A, NM_001385977.1:c.610C>A, NR_169814.1:n.1272C>A, XM_047417284.1:c.964C>A, NM_001385868.1:c.964C>A, NR_169824.1:n.1272C>A, NM_001385978.1:c.394C>A, NM_001385979.1:c.610C>A, NR_169815.1:n.1272C>A, NM_001385867.1:c.964C>A, XM_047417287.1:c.964C>A, NM_001385872.1:c.610C>A, NM_001385995.1:c.610C>A, NM_001385866.1:c.610C>A, NM_001385996.1:c.394C>A, NM_001385873.1:c.610C>A, NP_057687.2:p.Leu322Ile, NP_001095270.1:p.Leu322Ile, NP_001095271.1:p.Leu204Ile, XP_011541751.1:p.Leu322Ile, XP_016865038.1:p.Leu322Ile, XP_006714711.1:p.Leu322Ile, XP_024301875.1:p.Leu322Ile, XP_011541750.1:p.Leu322Ile, XP_011541752.1:p.Leu322Ile, XP_016865039.1:p.Leu322Ile, XP_047273238.1:p.Leu322Ile, NP_001372850.1:p.Leu322Ile, XP_047273241.1:p.Leu322Ile, NP_001372923.1:p.Leu322Ile, XP_047273242.1:p.Leu322Ile, XP_047273244.1:p.Leu322Ile, NP_001372909.1:p.Leu322Ile, NP_001372905.1:p.Leu204Ile, NP_001372921.1:p.Leu322Ile, NP_001372928.1:p.Leu204Ile, NP_001372927.1:p.Leu62Ile, XP_047273239.1:p.Leu322Ile, NP_001372920.1:p.Leu322Ile, NP_001372906.1:p.Leu204Ile, XP_047273240.1:p.Leu322Ile, NP_001372797.1:p.Leu322Ile, NP_001372907.1:p.Leu132Ile, NP_001372908.1:p.Leu204Ile, NP_001372796.1:p.Leu322Ile, XP_047273243.1:p.Leu322Ile, NP_001372801.1:p.Leu204Ile, NP_001372924.1:p.Leu204Ile, NP_001372795.1:p.Leu204Ile, NP_001372925.1:p.Leu132Ile, NP_001372802.1:p.Leu204Ile

                            14.

                            rs1478488863 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:137954315 (GRCh38)
                              5:137290004 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:137954314:A:G
                              Gene:
                              FAM13B (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.137954315A>G, NC_000005.9:g.137290004A>G, NM_016603.4:c.1503T>C, NM_016603.3:c.1503T>C, NM_016603.2:c.1503T>C, NM_001101800.3:c.1503T>C, NM_001101800.2:c.1503T>C, NM_001101800.1:c.1503T>C, NM_001101801.3:c.1215T>C, NM_001101801.2:c.1215T>C, NM_001101801.1:c.1215T>C, XM_011543449.2:c.1569T>C, XM_011543449.1:c.1569T>C, XM_017009549.2:c.1503T>C, XM_017009549.1:c.1503T>C, XM_006714648.2:c.1569T>C, XM_006714648.1:c.1569T>C, XM_024446107.2:c.1569T>C, XM_024446107.1:c.1569T>C, XM_011543448.2:c.1569T>C, XM_011543448.1:c.1569T>C, XM_011543450.2:c.1569T>C, XM_011543450.1:c.1569T>C, XM_017009550.2:c.1503T>C, XM_017009550.1:c.1503T>C, XM_047417282.1:c.1569T>C, NM_001385921.1:c.1503T>C, NR_169825.1:n.2069T>C, XM_047417285.1:c.1569T>C, NM_001385994.1:c.1569T>C, NR_169823.1:n.2003T>C, XM_047417286.1:c.1503T>C, XM_047417288.1:c.1503T>C, NR_169826.1:n.2003T>C, NM_001385980.1:c.1569T>C, NR_169822.1:n.1983T>C, NM_001385976.1:c.1215T>C, NM_001385992.1:c.1503T>C, NM_001385999.1:c.1215T>C, NM_001385998.1:c.723T>C, XM_047417283.1:c.1569T>C, NM_001385991.1:c.1503T>C, NM_001385977.1:c.1149T>C, NR_169814.1:n.1811T>C, XM_047417284.1:c.1503T>C, NM_001385868.1:c.1569T>C, NM_001385997.1:c.1347T>C, NR_169824.1:n.1746T>C, NM_001385978.1:c.933T>C, NM_001385979.1:c.1149T>C, NR_169815.1:n.1804T>C, NM_001385867.1:c.1503T>C, XM_047417287.1:c.1503T>C, NM_001385874.1:c.1413T>C, NM_001385872.1:c.1215T>C, NM_001385995.1:c.1149T>C, NM_001385870.1:c.1413T>C, NM_001385866.1:c.1149T>C, NM_001385996.1:c.933T>C, NM_001385873.1:c.1215T>C, NM_001385869.1:c.777T>C

                              15.

                              rs1478256712 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                5:137953464 (GRCh38)
                                5:137289153 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:137953463:T:G
                                Gene:
                                FAM13B (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000111/1 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.137953464T>G, NC_000005.9:g.137289153T>G, NM_016603.4:c.1654A>C, NM_016603.3:c.1654A>C, NM_016603.2:c.1654A>C, NM_001101800.3:c.1654A>C, NM_001101800.2:c.1654A>C, NM_001101800.1:c.1654A>C, NM_001101801.3:c.1366A>C, NM_001101801.2:c.1366A>C, NM_001101801.1:c.1366A>C, XM_011543449.2:c.1720A>C, XM_011543449.1:c.1720A>C, XM_017009549.2:c.1654A>C, XM_017009549.1:c.1654A>C, XM_006714648.2:c.1720A>C, XM_006714648.1:c.1720A>C, XM_024446107.2:c.1720A>C, XM_024446107.1:c.1720A>C, XM_011543448.2:c.1720A>C, XM_011543448.1:c.1720A>C, XM_011543450.2:c.1720A>C, XM_011543450.1:c.1720A>C, XM_017009550.2:c.1654A>C, XM_017009550.1:c.1654A>C, XM_047417282.1:c.1720A>C, NM_001385921.1:c.1654A>C, NR_169825.1:n.2244A>C, XM_047417285.1:c.1720A>C, NM_001385994.1:c.1720A>C, NR_169823.1:n.2178A>C, XM_047417286.1:c.1654A>C, XM_047417288.1:c.1654A>C, NR_169826.1:n.2154A>C, NM_001385980.1:c.1720A>C, NR_169822.1:n.2134A>C, NM_001385976.1:c.1366A>C, NM_001385992.1:c.1654A>C, NM_001385999.1:c.1366A>C, NM_001385998.1:c.874A>C, XM_047417283.1:c.1720A>C, NM_001385991.1:c.1654A>C, NM_001385977.1:c.1300A>C, NR_169814.1:n.1962A>C, XM_047417284.1:c.1654A>C, NM_001385868.1:c.1720A>C, NM_001385997.1:c.1498A>C, NR_169824.1:n.1897A>C, NM_001385978.1:c.1084A>C, NM_001385979.1:c.1300A>C, NR_169815.1:n.1955A>C, NM_001385867.1:c.1654A>C, XM_047417287.1:c.1654A>C, NM_001385874.1:c.1564A>C, NM_001385872.1:c.1366A>C, NM_001385995.1:c.1300A>C, NM_001385870.1:c.1564A>C, NM_001385866.1:c.1300A>C, NM_001385996.1:c.1084A>C, NM_001385873.1:c.1366A>C, NM_001385869.1:c.928A>C, NP_057687.2:p.Ile552Leu, NP_001095270.1:p.Ile552Leu, NP_001095271.1:p.Ile456Leu, XP_011541751.1:p.Ile574Leu, XP_016865038.1:p.Ile552Leu, XP_006714711.1:p.Ile574Leu, XP_024301875.1:p.Ile574Leu, XP_011541750.1:p.Ile574Leu, XP_011541752.1:p.Ile574Leu, XP_016865039.1:p.Ile552Leu, XP_047273238.1:p.Ile574Leu, NP_001372850.1:p.Ile552Leu, XP_047273241.1:p.Ile574Leu, NP_001372923.1:p.Ile574Leu, XP_047273242.1:p.Ile552Leu, XP_047273244.1:p.Ile552Leu, NP_001372909.1:p.Ile574Leu, NP_001372905.1:p.Ile456Leu, NP_001372921.1:p.Ile552Leu, NP_001372928.1:p.Ile456Leu, NP_001372927.1:p.Ile292Leu, XP_047273239.1:p.Ile574Leu, NP_001372920.1:p.Ile552Leu, NP_001372906.1:p.Ile434Leu, XP_047273240.1:p.Ile552Leu, NP_001372797.1:p.Ile574Leu, NP_001372926.1:p.Ile500Leu, NP_001372907.1:p.Ile362Leu, NP_001372908.1:p.Ile434Leu, NP_001372796.1:p.Ile552Leu, XP_047273243.1:p.Ile552Leu, NP_001372803.1:p.Ile522Leu, NP_001372801.1:p.Ile456Leu, NP_001372924.1:p.Ile434Leu, NP_001372799.1:p.Ile522Leu, NP_001372795.1:p.Ile434Leu, NP_001372925.1:p.Ile362Leu, NP_001372802.1:p.Ile456Leu, NP_001372798.1:p.Ile310Leu

                                16.

                                rs1477824898 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  5:137946296 (GRCh38)
                                  5:137281985 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:137946295:G:C
                                  Gene:
                                  FAM13B (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.137946296G>C, NC_000005.9:g.137281985G>C, NM_016603.4:c.2110C>G, NM_016603.3:c.2110C>G, NM_016603.2:c.2110C>G, XM_011543449.2:c.2176C>G, XM_011543449.1:c.2176C>G, XM_017009549.2:c.2110C>G, XM_017009549.1:c.2110C>G, XM_006714648.2:c.2176C>G, XM_006714648.1:c.2176C>G, XM_024446107.2:c.2176C>G, XM_024446107.1:c.2176C>G, XM_011543448.2:c.2176C>G, XM_011543448.1:c.2176C>G, XM_011543450.2:c.2176C>G, XM_011543450.1:c.2176C>G, XM_017009550.2:c.2110C>G, XM_017009550.1:c.2110C>G, XM_047417282.1:c.2176C>G, NM_001385921.1:c.2110C>G, NR_169825.1:n.2700C>G, NM_001385994.1:c.2176C>G, NR_169823.1:n.2634C>G, NR_169826.1:n.2610C>G, NR_169822.1:n.2590C>G, NM_001385976.1:c.1822C>G, NM_001385992.1:c.2020C>G, NM_001385999.1:c.1822C>G, NM_001385998.1:c.1330C>G, XM_047417283.1:c.2176C>G, NM_001385977.1:c.1756C>G, NR_169814.1:n.2418C>G, XM_047417284.1:c.2110C>G, NR_169824.1:n.2353C>G, NM_001385874.1:c.2020C>G, NM_001385872.1:c.1822C>G, NM_001385866.1:c.1756C>G, NM_001385996.1:c.1540C>G, NP_057687.2:p.His704Asp, XP_011541751.1:p.His726Asp, XP_016865038.1:p.His704Asp, XP_006714711.1:p.His726Asp, XP_024301875.1:p.His726Asp, XP_011541750.1:p.His726Asp, XP_011541752.1:p.His726Asp, XP_016865039.1:p.His704Asp, XP_047273238.1:p.His726Asp, NP_001372850.1:p.His704Asp, NP_001372923.1:p.His726Asp, NP_001372905.1:p.His608Asp, NP_001372921.1:p.His674Asp, NP_001372928.1:p.His608Asp, NP_001372927.1:p.His444Asp, XP_047273239.1:p.His726Asp, NP_001372906.1:p.His586Asp, XP_047273240.1:p.His704Asp, NP_001372803.1:p.His674Asp, NP_001372801.1:p.His608Asp, NP_001372795.1:p.His586Asp, NP_001372925.1:p.His514Asp

                                  17.

                                  rs1471627316 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    5:137987485 (GRCh38)
                                    5:137323174 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:137987484:C:A
                                    Gene:
                                    FAM13B (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.137987485C>A, NC_000005.9:g.137323174C>A, NM_016603.4:c.1022G>T, NM_016603.3:c.1022G>T, NM_016603.2:c.1022G>T, NM_001101800.3:c.1022G>T, NM_001101800.2:c.1022G>T, NM_001101800.1:c.1022G>T, NM_001101801.3:c.668G>T, NM_001101801.2:c.668G>T, NM_001101801.1:c.668G>T, XM_011543449.2:c.1022G>T, XM_011543449.1:c.1022G>T, XM_017009549.2:c.1022G>T, XM_017009549.1:c.1022G>T, XM_006714648.2:c.1022G>T, XM_006714648.1:c.1022G>T, XM_024446107.2:c.1022G>T, XM_024446107.1:c.1022G>T, XM_011543448.2:c.1022G>T, XM_011543448.1:c.1022G>T, XM_011543450.2:c.1022G>T, XM_011543450.1:c.1022G>T, XM_017009550.2:c.1022G>T, XM_017009550.1:c.1022G>T, XM_047417282.1:c.1022G>T, NM_001385921.1:c.1022G>T, NR_169825.1:n.1522G>T, XM_047417285.1:c.1022G>T, NM_001385994.1:c.1022G>T, NR_169823.1:n.1522G>T, XM_047417286.1:c.1022G>T, XM_047417288.1:c.1022G>T, NR_169826.1:n.1522G>T, NM_001385980.1:c.1022G>T, NR_169822.1:n.1522G>T, NM_001385976.1:c.668G>T, NM_001385992.1:c.1022G>T, NM_001385999.1:c.668G>T, NM_001385998.1:c.242G>T, XM_047417283.1:c.1022G>T, NM_001385991.1:c.1022G>T, NM_001385977.1:c.668G>T, NR_169814.1:n.1330G>T, XM_047417284.1:c.1022G>T, NM_001385868.1:c.1022G>T, NR_169824.1:n.1330G>T, NM_001385978.1:c.452G>T, NM_001385979.1:c.668G>T, NR_169815.1:n.1330G>T, NM_001385867.1:c.1022G>T, XM_047417287.1:c.1022G>T, NM_001385872.1:c.668G>T, NM_001385995.1:c.668G>T, NM_001385866.1:c.668G>T, NM_001385996.1:c.452G>T, NM_001385873.1:c.668G>T, NP_057687.2:p.Cys341Phe, NP_001095270.1:p.Cys341Phe, NP_001095271.1:p.Cys223Phe, XP_011541751.1:p.Cys341Phe, XP_016865038.1:p.Cys341Phe, XP_006714711.1:p.Cys341Phe, XP_024301875.1:p.Cys341Phe, XP_011541750.1:p.Cys341Phe, XP_011541752.1:p.Cys341Phe, XP_016865039.1:p.Cys341Phe, XP_047273238.1:p.Cys341Phe, NP_001372850.1:p.Cys341Phe, XP_047273241.1:p.Cys341Phe, NP_001372923.1:p.Cys341Phe, XP_047273242.1:p.Cys341Phe, XP_047273244.1:p.Cys341Phe, NP_001372909.1:p.Cys341Phe, NP_001372905.1:p.Cys223Phe, NP_001372921.1:p.Cys341Phe, NP_001372928.1:p.Cys223Phe, NP_001372927.1:p.Cys81Phe, XP_047273239.1:p.Cys341Phe, NP_001372920.1:p.Cys341Phe, NP_001372906.1:p.Cys223Phe, XP_047273240.1:p.Cys341Phe, NP_001372797.1:p.Cys341Phe, NP_001372907.1:p.Cys151Phe, NP_001372908.1:p.Cys223Phe, NP_001372796.1:p.Cys341Phe, XP_047273243.1:p.Cys341Phe, NP_001372801.1:p.Cys223Phe, NP_001372924.1:p.Cys223Phe, NP_001372795.1:p.Cys223Phe, NP_001372925.1:p.Cys151Phe, NP_001372802.1:p.Cys223Phe

                                    18.

                                    rs1467812757 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:137945912 (GRCh38)
                                      5:137281601 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:137945911:G:A
                                      Gene:
                                      FAM13B (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.137945912G>A, NC_000005.9:g.137281601G>A, NM_016603.4:c.2264C>T, NM_016603.3:c.2264C>T, NM_016603.2:c.2264C>T, NM_001101800.3:c.2180C>T, NM_001101800.2:c.2180C>T, NM_001101800.1:c.2180C>T, NM_001101801.3:c.1892C>T, NM_001101801.2:c.1892C>T, NM_001101801.1:c.1892C>T, XM_011543449.2:c.2330C>T, XM_011543449.1:c.2330C>T, XM_017009549.2:c.2264C>T, XM_017009549.1:c.2264C>T, XM_006714648.2:c.2330C>T, XM_006714648.1:c.2330C>T, XM_024446107.2:c.2330C>T, XM_024446107.1:c.2330C>T, XM_011543448.2:c.2330C>T, XM_011543448.1:c.2330C>T, XM_011543450.2:c.2330C>T, XM_011543450.1:c.2330C>T, XM_017009550.2:c.2264C>T, XM_017009550.1:c.2264C>T, XM_047417282.1:c.2330C>T, NM_001385921.1:c.2264C>T, NR_169825.1:n.2854C>T, XM_047417285.1:c.2246C>T, NM_001385994.1:c.2330C>T, NR_169823.1:n.2788C>T, XM_047417286.1:c.2180C>T, XM_047417288.1:c.2180C>T, NR_169826.1:n.2760C>T, NM_001385980.1:c.2246C>T, NR_169822.1:n.2744C>T, NM_001385976.1:c.1976C>T, NM_001385992.1:c.2174C>T, NM_001385999.1:c.1976C>T, NM_001385998.1:c.1484C>T, XM_047417283.1:c.2330C>T, NM_001385977.1:c.1910C>T, NR_169814.1:n.2568C>T, XM_047417284.1:c.2264C>T, NM_001385868.1:c.2246C>T, NM_001385997.1:c.2024C>T, NR_169824.1:n.2507C>T, NM_001385978.1:c.1610C>T, NM_001385979.1:c.1826C>T, NR_169815.1:n.2481C>T, NM_001385867.1:c.2180C>T, XM_047417287.1:c.2180C>T, NM_001385874.1:c.2174C>T, NM_001385872.1:c.1976C>T, NM_001385870.1:c.2090C>T, NM_001385866.1:c.1910C>T, NM_001385996.1:c.1694C>T, NM_001385873.1:c.1892C>T, NM_001385869.1:c.1454C>T, NP_057687.2:p.Thr755Ile, NP_001095270.1:p.Thr727Ile, NP_001095271.1:p.Thr631Ile, XP_011541751.1:p.Thr777Ile, XP_016865038.1:p.Thr755Ile, XP_006714711.1:p.Thr777Ile, XP_024301875.1:p.Thr777Ile, XP_011541750.1:p.Thr777Ile, XP_011541752.1:p.Thr777Ile, XP_016865039.1:p.Thr755Ile, XP_047273238.1:p.Thr777Ile, NP_001372850.1:p.Thr755Ile, XP_047273241.1:p.Thr749Ile, NP_001372923.1:p.Thr777Ile, XP_047273242.1:p.Thr727Ile, XP_047273244.1:p.Thr727Ile, NP_001372909.1:p.Thr749Ile, NP_001372905.1:p.Thr659Ile, NP_001372921.1:p.Thr725Ile, NP_001372928.1:p.Thr659Ile, NP_001372927.1:p.Thr495Ile, XP_047273239.1:p.Thr777Ile, NP_001372906.1:p.Thr637Ile, XP_047273240.1:p.Thr755Ile, NP_001372797.1:p.Thr749Ile, NP_001372926.1:p.Thr675Ile, NP_001372907.1:p.Thr537Ile, NP_001372908.1:p.Thr609Ile, NP_001372796.1:p.Thr727Ile, XP_047273243.1:p.Thr727Ile, NP_001372803.1:p.Thr725Ile, NP_001372801.1:p.Thr659Ile, NP_001372799.1:p.Thr697Ile, NP_001372795.1:p.Thr637Ile, NP_001372925.1:p.Thr565Ile, NP_001372802.1:p.Thr631Ile, NP_001372798.1:p.Thr485Ile

                                      19.

                                      rs1463820202 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:137953337 (GRCh38)
                                        5:137289026 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:137953336:T:C
                                        Gene:
                                        FAM13B (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000005.10:g.137953337T>C, NC_000005.9:g.137289026T>C, NM_016603.4:c.1781A>G, NM_016603.3:c.1781A>G, NM_016603.2:c.1781A>G, NM_001101800.3:c.1781A>G, NM_001101800.2:c.1781A>G, NM_001101800.1:c.1781A>G, NM_001101801.3:c.1493A>G, NM_001101801.2:c.1493A>G, NM_001101801.1:c.1493A>G, XM_011543449.2:c.1847A>G, XM_011543449.1:c.1847A>G, XM_017009549.2:c.1781A>G, XM_017009549.1:c.1781A>G, XM_006714648.2:c.1847A>G, XM_006714648.1:c.1847A>G, XM_024446107.2:c.1847A>G, XM_024446107.1:c.1847A>G, XM_011543448.2:c.1847A>G, XM_011543448.1:c.1847A>G, XM_011543450.2:c.1847A>G, XM_011543450.1:c.1847A>G, XM_017009550.2:c.1781A>G, XM_017009550.1:c.1781A>G, XM_047417282.1:c.1847A>G, NM_001385921.1:c.1781A>G, NR_169825.1:n.2371A>G, XM_047417285.1:c.1847A>G, NM_001385994.1:c.1847A>G, NR_169823.1:n.2305A>G, XM_047417286.1:c.1781A>G, XM_047417288.1:c.1781A>G, NR_169826.1:n.2281A>G, NM_001385980.1:c.1847A>G, NR_169822.1:n.2261A>G, NM_001385976.1:c.1493A>G, NM_001385992.1:c.1781A>G, NM_001385999.1:c.1493A>G, NM_001385998.1:c.1001A>G, XM_047417283.1:c.1847A>G, NM_001385991.1:c.1781A>G, NM_001385977.1:c.1427A>G, NR_169814.1:n.2089A>G, XM_047417284.1:c.1781A>G, NM_001385868.1:c.1847A>G, NM_001385997.1:c.1625A>G, NR_169824.1:n.2024A>G, NM_001385978.1:c.1211A>G, NM_001385979.1:c.1427A>G, NR_169815.1:n.2082A>G, NM_001385867.1:c.1781A>G, XM_047417287.1:c.1781A>G, NM_001385874.1:c.1691A>G, NM_001385872.1:c.1493A>G, NM_001385995.1:c.1427A>G, NM_001385870.1:c.1691A>G, NM_001385866.1:c.1427A>G, NM_001385996.1:c.1211A>G, NM_001385873.1:c.1493A>G, NM_001385869.1:c.1055A>G, NP_057687.2:p.Lys594Arg, NP_001095270.1:p.Lys594Arg, NP_001095271.1:p.Lys498Arg, XP_011541751.1:p.Lys616Arg, XP_016865038.1:p.Lys594Arg, XP_006714711.1:p.Lys616Arg, XP_024301875.1:p.Lys616Arg, XP_011541750.1:p.Lys616Arg, XP_011541752.1:p.Lys616Arg, XP_016865039.1:p.Lys594Arg, XP_047273238.1:p.Lys616Arg, NP_001372850.1:p.Lys594Arg, XP_047273241.1:p.Lys616Arg, NP_001372923.1:p.Lys616Arg, XP_047273242.1:p.Lys594Arg, XP_047273244.1:p.Lys594Arg, NP_001372909.1:p.Lys616Arg, NP_001372905.1:p.Lys498Arg, NP_001372921.1:p.Lys594Arg, NP_001372928.1:p.Lys498Arg, NP_001372927.1:p.Lys334Arg, XP_047273239.1:p.Lys616Arg, NP_001372920.1:p.Lys594Arg, NP_001372906.1:p.Lys476Arg, XP_047273240.1:p.Lys594Arg, NP_001372797.1:p.Lys616Arg, NP_001372926.1:p.Lys542Arg, NP_001372907.1:p.Lys404Arg, NP_001372908.1:p.Lys476Arg, NP_001372796.1:p.Lys594Arg, XP_047273243.1:p.Lys594Arg, NP_001372803.1:p.Lys564Arg, NP_001372801.1:p.Lys498Arg, NP_001372924.1:p.Lys476Arg, NP_001372799.1:p.Lys564Arg, NP_001372795.1:p.Lys476Arg, NP_001372925.1:p.Lys404Arg, NP_001372802.1:p.Lys498Arg, NP_001372798.1:p.Lys352Arg

                                        20.

                                        rs1462936900 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:137959676 (GRCh38)
                                          5:137295365 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:137959675:C:T
                                          Gene:
                                          FAM13B (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000005.10:g.137959676C>T, NC_000005.9:g.137295365C>T, NM_016603.4:c.1381G>A, NM_016603.3:c.1381G>A, NM_016603.2:c.1381G>A, NM_001101800.3:c.1381G>A, NM_001101800.2:c.1381G>A, NM_001101800.1:c.1381G>A, NM_001101801.3:c.1027G>A, NM_001101801.2:c.1027G>A, NM_001101801.1:c.1027G>A, XM_011543449.2:c.1381G>A, XM_011543449.1:c.1381G>A, XM_017009549.2:c.1381G>A, XM_017009549.1:c.1381G>A, XM_006714648.2:c.1381G>A, XM_006714648.1:c.1381G>A, XM_024446107.2:c.1381G>A, XM_024446107.1:c.1381G>A, XM_011543448.2:c.1381G>A, XM_011543448.1:c.1381G>A, XM_011543450.2:c.1381G>A, XM_011543450.1:c.1381G>A, XM_017009550.2:c.1381G>A, XM_017009550.1:c.1381G>A, XM_047417282.1:c.1381G>A, NM_001385921.1:c.1381G>A, NR_169825.1:n.1881G>A, XM_047417285.1:c.1381G>A, NM_001385994.1:c.1381G>A, NR_169823.1:n.1881G>A, XM_047417286.1:c.1381G>A, XM_047417288.1:c.1381G>A, NR_169826.1:n.1881G>A, NM_001385980.1:c.1381G>A, NR_169822.1:n.1881G>A, NM_001385976.1:c.1027G>A, NM_001385992.1:c.1381G>A, NM_001385999.1:c.1027G>A, NM_001385998.1:c.601G>A, XM_047417283.1:c.1381G>A, NM_001385991.1:c.1381G>A, NM_001385977.1:c.1027G>A, NR_169814.1:n.1689G>A, XM_047417284.1:c.1381G>A, NM_001385868.1:c.1381G>A, NM_001385997.1:c.1225G>A, NR_169824.1:n.1624G>A, NM_001385978.1:c.811G>A, NM_001385979.1:c.1027G>A, NR_169815.1:n.1682G>A, NM_001385867.1:c.1381G>A, XM_047417287.1:c.1381G>A, NM_001385874.1:c.1225G>A, NM_001385872.1:c.1027G>A, NM_001385995.1:c.1027G>A, NM_001385870.1:c.1225G>A, NM_001385866.1:c.1027G>A, NM_001385996.1:c.811G>A, NM_001385873.1:c.1027G>A, NM_001385869.1:c.655G>A, NP_057687.2:p.Ala461Thr, NP_001095270.1:p.Ala461Thr, NP_001095271.1:p.Ala343Thr, XP_011541751.1:p.Ala461Thr, XP_016865038.1:p.Ala461Thr, XP_006714711.1:p.Ala461Thr, XP_024301875.1:p.Ala461Thr, XP_011541750.1:p.Ala461Thr, XP_011541752.1:p.Ala461Thr, XP_016865039.1:p.Ala461Thr, XP_047273238.1:p.Ala461Thr, NP_001372850.1:p.Ala461Thr, XP_047273241.1:p.Ala461Thr, NP_001372923.1:p.Ala461Thr, XP_047273242.1:p.Ala461Thr, XP_047273244.1:p.Ala461Thr, NP_001372909.1:p.Ala461Thr, NP_001372905.1:p.Ala343Thr, NP_001372921.1:p.Ala461Thr, NP_001372928.1:p.Ala343Thr, NP_001372927.1:p.Ala201Thr, XP_047273239.1:p.Ala461Thr, NP_001372920.1:p.Ala461Thr, NP_001372906.1:p.Ala343Thr, XP_047273240.1:p.Ala461Thr, NP_001372797.1:p.Ala461Thr, NP_001372926.1:p.Ala409Thr, NP_001372907.1:p.Ala271Thr, NP_001372908.1:p.Ala343Thr, NP_001372796.1:p.Ala461Thr, XP_047273243.1:p.Ala461Thr, NP_001372803.1:p.Ala409Thr, NP_001372801.1:p.Ala343Thr, NP_001372924.1:p.Ala343Thr, NP_001372799.1:p.Ala409Thr, NP_001372795.1:p.Ala343Thr, NP_001372925.1:p.Ala271Thr, NP_001372802.1:p.Ala343Thr, NP_001372798.1:p.Ala219Thr

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