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Items: 1 to 20 of 812

1.

rs1489090413 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    5:177524621 (GRCh38)
    5:176951622 (GRCh37)
    Canonical SPDI:
    NC_000005.10:177524620:G:A
    Gene:
    FAM193B (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000019/5 (TOPMED)
    HGVS:
    NC_000005.10:g.177524621G>A, NC_000005.9:g.176951622G>A, XM_006714879.4:c.1761C>T, XM_006714879.3:c.1761C>T, XM_006714879.2:c.1761C>T, XM_006714879.1:c.1761C>T, NR_024019.3:n.3646C>T, NM_019057.3:c.1761C>T, XM_011534580.3:c.1761C>T, XM_011534580.2:c.1761C>T, XM_011534580.1:c.1761C>T, XM_006714880.3:c.1761C>T, XM_006714880.2:c.1761C>T, XM_006714880.1:c.1761C>T, XM_006714875.3:c.2100C>T, XM_011534579.3:c.1785C>T, XM_011534579.2:c.1785C>T, XM_011534579.1:c.1785C>T, NM_001190946.3:c.1860C>T, NM_001190946.2:c.1860C>T, NM_001190946.1:c.1860C>T, NR_024019.2:n.3608C>T, XM_011534573.2:c.1968C>T, XM_011534573.1:c.1968C>T, XM_011534572.2:c.1995C>T, XM_011534572.1:c.1995C>T, XM_024446121.2:c.1152C>T, XM_024446121.1:c.1152C>T, NM_019057.2:c.738C>T, NM_001366498.1:c.738C>T, NM_001366499.1:c.738C>T, NM_001366500.1:c.1761C>T, NM_001410826.1:c.2100C>T, XM_047417327.1:c.1728C>T, XM_047417330.1:c.1212C>T, XR_007058607.1:n.2205C>T, XM_047417331.1:c.912C>T, NM_019057.1:c.738C>T

    2.

    rs1489062504 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      5:177531330 (GRCh38)
      5:176958331 (GRCh37)
      Canonical SPDI:
      NC_000005.10:177531329:G:T
      Gene:
      FAM193B (Varview)
      Functional Consequence:
      intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000005.10:g.177531330G>T, NC_000005.9:g.176958331G>T, XM_006714879.4:c.1128C>A, XM_006714879.3:c.1128C>A, XM_006714879.2:c.1128C>A, XM_006714879.1:c.1128C>A, NR_024019.3:n.3013C>A, NM_019057.3:c.1128C>A, XM_011534580.3:c.1128C>A, XM_011534580.2:c.1128C>A, XM_011534580.1:c.1128C>A, XM_006714880.3:c.1128C>A, XM_006714880.2:c.1128C>A, XM_006714880.1:c.1128C>A, XM_006714875.3:c.1467C>A, XM_011534579.3:c.1152C>A, XM_011534579.2:c.1152C>A, XM_011534579.1:c.1152C>A, XR_427804.3:n.1572C>A, XR_427804.2:n.1482C>A, XR_427804.1:n.1498C>A, NR_024019.2:n.2975C>A, XM_011534573.2:c.1335C>A, XM_011534573.1:c.1335C>A, XM_011534572.2:c.1362C>A, XM_011534572.1:c.1362C>A, XM_024446121.2:c.519C>A, XM_024446121.1:c.519C>A, NM_019057.2:c.105C>A, NM_001366498.1:c.105C>A, NM_001366499.1:c.105C>A, NM_001366500.1:c.1128C>A, NM_001410826.1:c.1467C>A, XR_007058607.1:n.1572C>A, XM_047417328.1:c.1467C>A, NM_019057.1:c.105C>A

      3.

      rs1488739170 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:177524233 (GRCh38)
        5:176951234 (GRCh37)
        Canonical SPDI:
        NC_000005.10:177524232:G:A
        Gene:
        FAM193B (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
        HGVS:
        NC_000005.10:g.177524233G>A, NC_000005.9:g.176951234G>A, XM_006714879.4:c.2149C>T, XM_006714879.3:c.2149C>T, XM_006714879.2:c.2149C>T, XM_006714879.1:c.2149C>T, NR_024019.3:n.4034C>T, NM_019057.3:c.2149C>T, XM_011534580.3:c.2149C>T, XM_011534580.2:c.2149C>T, XM_011534580.1:c.2149C>T, XM_006714880.3:c.2149C>T, XM_006714880.2:c.2149C>T, XM_006714880.1:c.2149C>T, XM_006714875.3:c.2488C>T, XM_011534579.3:c.2173C>T, XM_011534579.2:c.2173C>T, XM_011534579.1:c.2173C>T, NM_001190946.3:c.2248C>T, NM_001190946.2:c.2248C>T, NM_001190946.1:c.2248C>T, NR_024019.2:n.3996C>T, XM_011534573.2:c.2356C>T, XM_011534573.1:c.2356C>T, XM_011534572.2:c.2383C>T, XM_011534572.1:c.2383C>T, XM_024446121.2:c.1540C>T, XM_024446121.1:c.1540C>T, NM_019057.2:c.1126C>T, NM_001366498.1:c.1126C>T, NM_001366499.1:c.1126C>T, NM_001366500.1:c.2149C>T, NM_001410826.1:c.2488C>T, XM_047417327.1:c.2116C>T, XM_047417330.1:c.1600C>T, XR_007058607.1:n.2593C>T, XM_047417331.1:c.1300C>T, NM_019057.1:c.1126C>T, XP_006714942.1:p.Arg717Cys, XP_011532882.1:p.Arg717Cys, XP_006714943.1:p.Arg717Cys, XP_006714938.1:p.Arg830Cys, XP_011532881.1:p.Arg725Cys, NP_001177875.1:p.Arg750Cys, XP_011532875.1:p.Arg786Cys, XP_011532874.1:p.Arg795Cys, XP_024301889.1:p.Arg514Cys, NP_001353427.1:p.Arg376Cys, NP_001353428.1:p.Arg376Cys, NP_001353429.1:p.Arg717Cys, XP_047273283.1:p.Arg706Cys, XP_047273286.1:p.Arg534Cys, XP_047273287.1:p.Arg434Cys

        4.

        rs1487309150 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CAGCAGGTGTGGGTGGG [Show Flanks]
          Chromosome:
          5:177536593 (GRCh38)
          5:176963595 (GRCh37)
          Canonical SPDI:
          NC_000005.10:177536593:GGTGGGCAGCAGGTGTGGGTGGG:GGTGGGCAGCAGGTGTGGGTGGGCAGCAGGTGTGGGTGGG
          Gene:
          FAM193B (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant
          HGVS:
          NC_000005.10:g.177536600_177536616dup, NC_000005.9:g.176963601_176963617dup, XM_006714879.4:c.485_501dup, XM_006714879.3:c.485_501dup, XM_006714879.2:c.485_501dup, XM_006714879.1:c.485_501dup, NR_024019.3:n.2122_2138dup, NM_019057.3:c.485_501dup, XM_011534580.3:c.485_501dup, XM_011534580.2:c.485_501dup, XM_011534580.1:c.485_501dup, XM_006714880.3:c.485_501dup, XM_006714880.2:c.485_501dup, XM_006714880.1:c.485_501dup, XM_006714875.3:c.824_840dup, XM_011534579.3:c.509_525dup, XM_011534579.2:c.509_525dup, XM_011534579.1:c.509_525dup, NM_001190946.3:c.824_840dup, NM_001190946.2:c.824_840dup, NM_001190946.1:c.824_840dup, XR_427804.3:n.929_945dup, XR_427804.2:n.839_855dup, XR_427804.1:n.855_871dup, NR_024019.2:n.2084_2100dup, XM_011534573.2:c.692_708dup, XM_011534573.1:c.692_708dup, XM_011534572.2:c.719_735dup, XM_011534572.1:c.719_735dup, NM_019057.2:c.-787_-771dup, NM_001366498.1:c.-787_-771dup, NM_001366499.1:c.-718_-702dup, NM_001366500.1:c.485_501dup, NM_001410826.1:c.824_840dup, XM_047417327.1:c.692_708dup, XM_047417330.1:c.176_192dup, XR_007058607.1:n.929_945dup, XM_047417328.1:c.824_840dup, XR_007058608.1:n.929_945dup, XM_047417332.1:c.824_840dup, XP_006714942.1:p.Thr168fs, XP_011532882.1:p.Thr168fs, XP_006714943.1:p.Thr168fs, XP_006714938.1:p.Thr281fs, XP_011532881.1:p.Thr176fs, NP_001177875.1:p.Thr281fs, XP_011532875.1:p.Thr237fs, XP_011532874.1:p.Thr246fs, NP_001353429.1:p.Thr168fs, XP_047273283.1:p.Thr237fs, XP_047273286.1:p.Thr65fs, XP_047273284.1:p.Thr281fs, XP_047273288.1:p.Thr281fs

          5.

          rs1486083429 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            5:177524899 (GRCh38)
            5:176951900 (GRCh37)
            Canonical SPDI:
            NC_000005.10:177524898:G:T
            Gene:
            FAM193B (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000616/1 (ALFA)
            T=0.000006/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.177524899G>T, NC_000005.9:g.176951900G>T, XM_006714879.4:c.1483C>A, XM_006714879.3:c.1483C>A, XM_006714879.2:c.1483C>A, XM_006714879.1:c.1483C>A, NR_024019.3:n.3368C>A, NM_019057.3:c.1483C>A, XM_011534580.3:c.1483C>A, XM_011534580.2:c.1483C>A, XM_011534580.1:c.1483C>A, XM_006714880.3:c.1483C>A, XM_006714880.2:c.1483C>A, XM_006714880.1:c.1483C>A, XM_006714875.3:c.1822C>A, XM_011534579.3:c.1507C>A, XM_011534579.2:c.1507C>A, XM_011534579.1:c.1507C>A, NM_001190946.3:c.1582C>A, NM_001190946.2:c.1582C>A, NM_001190946.1:c.1582C>A, XR_427804.3:n.1927C>A, XR_427804.2:n.1837C>A, XR_427804.1:n.1853C>A, NR_024019.2:n.3330C>A, XM_011534573.2:c.1690C>A, XM_011534573.1:c.1690C>A, XM_011534572.2:c.1717C>A, XM_011534572.1:c.1717C>A, XM_024446121.2:c.874C>A, XM_024446121.1:c.874C>A, NM_019057.2:c.460C>A, NM_001366498.1:c.460C>A, NM_001366499.1:c.460C>A, NM_001366500.1:c.1483C>A, NM_001410826.1:c.1822C>A, XM_047417327.1:c.1450C>A, XM_047417330.1:c.934C>A, XR_007058607.1:n.1927C>A, XM_047417328.1:c.1822C>A, XR_007058608.1:n.1687C>A, XM_047417331.1:c.634C>A, NM_019057.1:c.460C>A, XP_006714942.1:p.Pro495Thr, XP_011532882.1:p.Pro495Thr, XP_006714943.1:p.Pro495Thr, XP_006714938.1:p.Pro608Thr, XP_011532881.1:p.Pro503Thr, NP_001177875.1:p.Pro528Thr, XP_011532875.1:p.Pro564Thr, XP_011532874.1:p.Pro573Thr, XP_024301889.1:p.Pro292Thr, NP_001353427.1:p.Pro154Thr, NP_001353428.1:p.Pro154Thr, NP_001353429.1:p.Pro495Thr, XP_047273283.1:p.Pro484Thr, XP_047273286.1:p.Pro312Thr, XP_047273284.1:p.Pro608Thr, XP_047273287.1:p.Pro212Thr

            6.

            rs1485437736 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              5:177525083 (GRCh38)
              5:176952084 (GRCh37)
              Canonical SPDI:
              NC_000005.10:177525082:C:A
              Gene:
              FAM193B (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000005.10:g.177525083C>A, NC_000005.9:g.176952084C>A, XM_006714879.4:c.1299G>T, XM_006714879.3:c.1299G>T, XM_006714879.2:c.1299G>T, XM_006714879.1:c.1299G>T, NR_024019.3:n.3184G>T, NM_019057.3:c.1299G>T, XM_011534580.3:c.1299G>T, XM_011534580.2:c.1299G>T, XM_011534580.1:c.1299G>T, XM_006714880.3:c.1299G>T, XM_006714880.2:c.1299G>T, XM_006714880.1:c.1299G>T, XM_006714875.3:c.1638G>T, XM_011534579.3:c.1323G>T, XM_011534579.2:c.1323G>T, XM_011534579.1:c.1323G>T, NM_001190946.3:c.1398G>T, NM_001190946.2:c.1398G>T, NM_001190946.1:c.1398G>T, XR_427804.3:n.1743G>T, XR_427804.2:n.1653G>T, XR_427804.1:n.1669G>T, NR_024019.2:n.3146G>T, XM_011534573.2:c.1506G>T, XM_011534573.1:c.1506G>T, XM_011534572.2:c.1533G>T, XM_011534572.1:c.1533G>T, XM_024446121.2:c.690G>T, XM_024446121.1:c.690G>T, NM_019057.2:c.276G>T, NM_001366498.1:c.276G>T, NM_001366499.1:c.276G>T, NM_001366500.1:c.1299G>T, NM_001410826.1:c.1638G>T, XM_047417327.1:c.1266G>T, XM_047417330.1:c.750G>T, XR_007058607.1:n.1743G>T, XM_047417328.1:c.1638G>T, XR_007058608.1:n.1503G>T, XM_047417331.1:c.450G>T, NM_019057.1:c.276G>T

              7.

              rs1485241154 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                5:177536412 (GRCh38)
                5:176963413 (GRCh37)
                Canonical SPDI:
                NC_000005.10:177536411:C:T
                Gene:
                FAM193B (Varview)
                Functional Consequence:
                5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000005.10:g.177536412C>T, NC_000005.9:g.176963413C>T, XM_006714879.4:c.683G>A, XM_006714879.3:c.683G>A, XM_006714879.2:c.683G>A, XM_006714879.1:c.683G>A, NR_024019.3:n.2320G>A, NM_019057.3:c.683G>A, XM_011534580.3:c.683G>A, XM_011534580.2:c.683G>A, XM_011534580.1:c.683G>A, XM_006714880.3:c.683G>A, XM_006714880.2:c.683G>A, XM_006714880.1:c.683G>A, XM_006714875.3:c.1022G>A, XM_011534579.3:c.707G>A, XM_011534579.2:c.707G>A, XM_011534579.1:c.707G>A, NM_001190946.3:c.1022G>A, NM_001190946.2:c.1022G>A, NM_001190946.1:c.1022G>A, XR_427804.3:n.1127G>A, XR_427804.2:n.1037G>A, XR_427804.1:n.1053G>A, NR_024019.2:n.2282G>A, XM_011534573.2:c.890G>A, XM_011534573.1:c.890G>A, XM_011534572.2:c.917G>A, XM_011534572.1:c.917G>A, XM_024446121.2:c.74G>A, XM_024446121.1:c.74G>A, NM_019057.2:c.-589G>A, NM_001366498.1:c.-589G>A, NM_001366499.1:c.-520G>A, NM_001366500.1:c.683G>A, NM_001410826.1:c.1022G>A, XM_047417327.1:c.890G>A, XM_047417330.1:c.374G>A, XR_007058607.1:n.1127G>A, XM_047417328.1:c.1022G>A, XR_007058608.1:n.1127G>A, XM_047417331.1:c.74G>A, XM_047417332.1:c.1022G>A, XP_006714942.1:p.Cys228Tyr, XP_011532882.1:p.Cys228Tyr, XP_006714943.1:p.Cys228Tyr, XP_006714938.1:p.Cys341Tyr, XP_011532881.1:p.Cys236Tyr, NP_001177875.1:p.Cys341Tyr, XP_011532875.1:p.Cys297Tyr, XP_011532874.1:p.Cys306Tyr, XP_024301889.1:p.Cys25Tyr, NP_001353429.1:p.Cys228Tyr, XP_047273283.1:p.Cys297Tyr, XP_047273286.1:p.Cys125Tyr, XP_047273284.1:p.Cys341Tyr, XP_047273287.1:p.Cys25Tyr, XP_047273288.1:p.Cys341Tyr

                8.

                rs1483560338 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  5:177536604 (GRCh38)
                  5:176963605 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:177536603:A:G,NC_000005.10:177536603:A:T
                  Gene:
                  FAM193B (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000006/1 (GnomAD_exomes)
                  T=0.000708/12 (TOMMO)
                  HGVS:
                  NC_000005.10:g.177536604A>G, NC_000005.10:g.177536604A>T, NC_000005.9:g.176963605A>G, NC_000005.9:g.176963605A>T, XM_006714879.4:c.491T>C, XM_006714879.4:c.491T>A, XM_006714879.3:c.491T>C, XM_006714879.3:c.491T>A, XM_006714879.2:c.491T>C, XM_006714879.2:c.491T>A, XM_006714879.1:c.491T>C, XM_006714879.1:c.491T>A, NR_024019.3:n.2128T>C, NR_024019.3:n.2128T>A, NM_019057.3:c.491T>C, NM_019057.3:c.491T>A, XM_011534580.3:c.491T>C, XM_011534580.3:c.491T>A, XM_011534580.2:c.491T>C, XM_011534580.2:c.491T>A, XM_011534580.1:c.491T>C, XM_011534580.1:c.491T>A, XM_006714880.3:c.491T>C, XM_006714880.3:c.491T>A, XM_006714880.2:c.491T>C, XM_006714880.2:c.491T>A, XM_006714880.1:c.491T>C, XM_006714880.1:c.491T>A, XM_006714875.3:c.830T>C, XM_006714875.3:c.830T>A, XM_011534579.3:c.515T>C, XM_011534579.3:c.515T>A, XM_011534579.2:c.515T>C, XM_011534579.2:c.515T>A, XM_011534579.1:c.515T>C, XM_011534579.1:c.515T>A, NM_001190946.3:c.830T>C, NM_001190946.3:c.830T>A, NM_001190946.2:c.830T>C, NM_001190946.2:c.830T>A, NM_001190946.1:c.830T>C, NM_001190946.1:c.830T>A, XR_427804.3:n.935T>C, XR_427804.3:n.935T>A, XR_427804.2:n.845T>C, XR_427804.2:n.845T>A, XR_427804.1:n.861T>C, XR_427804.1:n.861T>A, NR_024019.2:n.2090T>C, NR_024019.2:n.2090T>A, XM_011534573.2:c.698T>C, XM_011534573.2:c.698T>A, XM_011534573.1:c.698T>C, XM_011534573.1:c.698T>A, XM_011534572.2:c.725T>C, XM_011534572.2:c.725T>A, XM_011534572.1:c.725T>C, XM_011534572.1:c.725T>A, NM_019057.2:c.-781T>C, NM_019057.2:c.-781T>A, NM_001366498.1:c.-781T>C, NM_001366498.1:c.-781T>A, NM_001366499.1:c.-712T>C, NM_001366499.1:c.-712T>A, NM_001366500.1:c.491T>C, NM_001366500.1:c.491T>A, NM_001410826.1:c.830T>C, NM_001410826.1:c.830T>A, XM_047417327.1:c.698T>C, XM_047417327.1:c.698T>A, XM_047417330.1:c.182T>C, XM_047417330.1:c.182T>A, XR_007058607.1:n.935T>C, XR_007058607.1:n.935T>A, XM_047417328.1:c.830T>C, XM_047417328.1:c.830T>A, XR_007058608.1:n.935T>C, XR_007058608.1:n.935T>A, XM_047417332.1:c.830T>C, XM_047417332.1:c.830T>A, XP_006714942.1:p.Leu164Pro, XP_006714942.1:p.Leu164Gln, XP_011532882.1:p.Leu164Pro, XP_011532882.1:p.Leu164Gln, XP_006714943.1:p.Leu164Pro, XP_006714943.1:p.Leu164Gln, XP_006714938.1:p.Leu277Pro, XP_006714938.1:p.Leu277Gln, XP_011532881.1:p.Leu172Pro, XP_011532881.1:p.Leu172Gln, NP_001177875.1:p.Leu277Pro, NP_001177875.1:p.Leu277Gln, XP_011532875.1:p.Leu233Pro, XP_011532875.1:p.Leu233Gln, XP_011532874.1:p.Leu242Pro, XP_011532874.1:p.Leu242Gln, NP_001353429.1:p.Leu164Pro, NP_001353429.1:p.Leu164Gln, XP_047273283.1:p.Leu233Pro, XP_047273283.1:p.Leu233Gln, XP_047273286.1:p.Leu61Pro, XP_047273286.1:p.Leu61Gln, XP_047273284.1:p.Leu277Pro, XP_047273284.1:p.Leu277Gln, XP_047273288.1:p.Leu277Pro, XP_047273288.1:p.Leu277Gln

                  9.

                  rs1483296192 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:177522042 (GRCh38)
                    5:176949043 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:177522041:C:T
                    Gene:
                    FAM193B (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (GnomAD)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000005.10:g.177522042C>T, NC_000005.9:g.176949043C>T, XM_006714879.4:c.2303G>A, XM_006714879.3:c.2303G>A, XM_006714879.2:c.2303G>A, XM_006714879.1:c.2303G>A, NR_024019.3:n.4188G>A, NM_019057.3:c.2303G>A, XM_011534580.3:c.2303G>A, XM_011534580.2:c.2303G>A, XM_011534580.1:c.2303G>A, XM_006714880.3:c.2303G>A, XM_006714880.2:c.2303G>A, XM_006714880.1:c.2303G>A, XM_006714875.3:c.2642G>A, XM_011534579.3:c.2327G>A, XM_011534579.2:c.2327G>A, XM_011534579.1:c.2327G>A, NM_001190946.3:c.2402G>A, NM_001190946.2:c.2402G>A, NM_001190946.1:c.2402G>A, XR_427804.3:n.2158G>A, XR_427804.2:n.2068G>A, XR_427804.1:n.2084G>A, NR_024019.2:n.4150G>A, XM_011534573.2:c.2510G>A, XM_011534573.1:c.2510G>A, XM_011534572.2:c.2537G>A, XM_011534572.1:c.2537G>A, XM_024446121.2:c.1694G>A, XM_024446121.1:c.1694G>A, NM_019057.2:c.1280G>A, NM_001366498.1:c.1280G>A, NM_001366499.1:c.1280G>A, NM_001366500.1:c.2303G>A, NM_001410826.1:c.2642G>A, XM_047417327.1:c.2270G>A, XM_047417330.1:c.1754G>A, XR_007058607.1:n.2854G>A, XM_047417328.1:c.1977G>A, XR_007058608.1:n.1918G>A, XM_047417331.1:c.1454G>A, NM_019057.1:c.1280G>A, XP_006714942.1:p.Arg768His, XP_011532882.1:p.Arg768His, XP_006714943.1:p.Arg768His, XP_006714938.1:p.Arg881His, XP_011532881.1:p.Arg776His, NP_001177875.1:p.Arg801His, XP_011532875.1:p.Arg837His, XP_011532874.1:p.Arg846His, XP_024301889.1:p.Arg565His, NP_001353427.1:p.Arg427His, NP_001353428.1:p.Arg427His, NP_001353429.1:p.Arg768His, XP_047273283.1:p.Arg757His, XP_047273286.1:p.Arg585His, XP_047273287.1:p.Arg485His

                    10.

                    rs1483255564 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:177524440 (GRCh38)
                      5:176951441 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:177524439:G:A
                      Gene:
                      FAM193B (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                      HGVS:
                      NC_000005.10:g.177524440G>A, NC_000005.9:g.176951441G>A, XM_006714879.4:c.1942C>T, XM_006714879.3:c.1942C>T, XM_006714879.2:c.1942C>T, XM_006714879.1:c.1942C>T, NR_024019.3:n.3827C>T, NM_019057.3:c.1942C>T, XM_011534580.3:c.1942C>T, XM_011534580.2:c.1942C>T, XM_011534580.1:c.1942C>T, XM_006714880.3:c.1942C>T, XM_006714880.2:c.1942C>T, XM_006714880.1:c.1942C>T, XM_006714875.3:c.2281C>T, XM_011534579.3:c.1966C>T, XM_011534579.2:c.1966C>T, XM_011534579.1:c.1966C>T, NM_001190946.3:c.2041C>T, NM_001190946.2:c.2041C>T, NM_001190946.1:c.2041C>T, NR_024019.2:n.3789C>T, XM_011534573.2:c.2149C>T, XM_011534573.1:c.2149C>T, XM_011534572.2:c.2176C>T, XM_011534572.1:c.2176C>T, XM_024446121.2:c.1333C>T, XM_024446121.1:c.1333C>T, NM_019057.2:c.919C>T, NM_001366498.1:c.919C>T, NM_001366499.1:c.919C>T, NM_001366500.1:c.1942C>T, NM_001410826.1:c.2281C>T, XM_047417327.1:c.1909C>T, XM_047417330.1:c.1393C>T, XR_007058607.1:n.2386C>T, XM_047417331.1:c.1093C>T, NM_019057.1:c.919C>T, XP_006714942.1:p.Pro648Ser, XP_011532882.1:p.Pro648Ser, XP_006714943.1:p.Pro648Ser, XP_006714938.1:p.Pro761Ser, XP_011532881.1:p.Pro656Ser, NP_001177875.1:p.Pro681Ser, XP_011532875.1:p.Pro717Ser, XP_011532874.1:p.Pro726Ser, XP_024301889.1:p.Pro445Ser, NP_001353427.1:p.Pro307Ser, NP_001353428.1:p.Pro307Ser, NP_001353429.1:p.Pro648Ser, XP_047273283.1:p.Pro637Ser, XP_047273286.1:p.Pro465Ser, XP_047273287.1:p.Pro365Ser

                      11.

                      rs1482340340 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:177536720 (GRCh38)
                        5:176963721 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:177536719:G:A
                        Gene:
                        FAM193B (Varview)
                        Functional Consequence:
                        intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                        HGVS:
                        NC_000005.10:g.177536720G>A, NC_000005.9:g.176963721G>A, XM_006714879.4:c.375C>T, XM_006714879.3:c.375C>T, XM_006714879.2:c.375C>T, XM_006714879.1:c.375C>T, NR_024019.3:n.2012C>T, NM_019057.3:c.375C>T, XM_011534580.3:c.375C>T, XM_011534580.2:c.375C>T, XM_011534580.1:c.375C>T, XM_006714880.3:c.375C>T, XM_006714880.2:c.375C>T, XM_006714880.1:c.375C>T, XM_006714875.3:c.714C>T, XM_011534579.3:c.399C>T, XM_011534579.2:c.399C>T, XM_011534579.1:c.399C>T, NM_001190946.3:c.714C>T, NM_001190946.2:c.714C>T, NM_001190946.1:c.714C>T, XR_427804.3:n.819C>T, XR_427804.2:n.729C>T, XR_427804.1:n.745C>T, NR_024019.2:n.1974C>T, XM_011534573.2:c.582C>T, XM_011534573.1:c.582C>T, XM_011534572.2:c.609C>T, XM_011534572.1:c.609C>T, NM_019057.2:c.-897C>T, NM_001366498.1:c.-897C>T, NM_001366499.1:c.-828C>T, NM_001366500.1:c.375C>T, NM_001410826.1:c.714C>T, XM_047417327.1:c.582C>T, XM_047417330.1:c.66C>T, XR_007058607.1:n.819C>T, XM_047417328.1:c.714C>T, XR_007058608.1:n.819C>T, XM_047417332.1:c.714C>T

                        12.

                        rs1479197629 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:177536474 (GRCh38)
                          5:176963475 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:177536473:C:T
                          Gene:
                          FAM193B (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          NC_000005.10:g.177536474C>T, NC_000005.9:g.176963475C>T, XM_006714879.4:c.621G>A, XM_006714879.3:c.621G>A, XM_006714879.2:c.621G>A, XM_006714879.1:c.621G>A, NR_024019.3:n.2258G>A, NM_019057.3:c.621G>A, XM_011534580.3:c.621G>A, XM_011534580.2:c.621G>A, XM_011534580.1:c.621G>A, XM_006714880.3:c.621G>A, XM_006714880.2:c.621G>A, XM_006714880.1:c.621G>A, XM_006714875.3:c.960G>A, XM_011534579.3:c.645G>A, XM_011534579.2:c.645G>A, XM_011534579.1:c.645G>A, NM_001190946.3:c.960G>A, NM_001190946.2:c.960G>A, NM_001190946.1:c.960G>A, XR_427804.3:n.1065G>A, XR_427804.2:n.975G>A, XR_427804.1:n.991G>A, NR_024019.2:n.2220G>A, XM_011534573.2:c.828G>A, XM_011534573.1:c.828G>A, XM_011534572.2:c.855G>A, XM_011534572.1:c.855G>A, XM_024446121.2:c.12G>A, XM_024446121.1:c.12G>A, NM_019057.2:c.-651G>A, NM_001366498.1:c.-651G>A, NM_001366499.1:c.-582G>A, NM_001366500.1:c.621G>A, NM_001410826.1:c.960G>A, XM_047417327.1:c.828G>A, XM_047417330.1:c.312G>A, XR_007058607.1:n.1065G>A, XM_047417328.1:c.960G>A, XR_007058608.1:n.1065G>A, XM_047417331.1:c.12G>A, XM_047417332.1:c.960G>A

                          13.

                          rs1479145408 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,G [Show Flanks]
                            Chromosome:
                            5:177536613 (GRCh38)
                            5:176963614 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:177536612:T:A,NC_000005.10:177536612:T:G
                            Gene:
                            FAM193B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.00523/62 (ALFA)
                            HGVS:
                            NC_000005.10:g.177536613T>A, NC_000005.10:g.177536613T>G, NC_000005.9:g.176963614T>A, NC_000005.9:g.176963614T>G, XM_006714879.4:c.482A>T, XM_006714879.4:c.482A>C, XM_006714879.3:c.482A>T, XM_006714879.3:c.482A>C, XM_006714879.2:c.482A>T, XM_006714879.2:c.482A>C, XM_006714879.1:c.482A>T, XM_006714879.1:c.482A>C, NR_024019.3:n.2119A>T, NR_024019.3:n.2119A>C, NM_019057.3:c.482A>T, NM_019057.3:c.482A>C, XM_011534580.3:c.482A>T, XM_011534580.3:c.482A>C, XM_011534580.2:c.482A>T, XM_011534580.2:c.482A>C, XM_011534580.1:c.482A>T, XM_011534580.1:c.482A>C, XM_006714880.3:c.482A>T, XM_006714880.3:c.482A>C, XM_006714880.2:c.482A>T, XM_006714880.2:c.482A>C, XM_006714880.1:c.482A>T, XM_006714880.1:c.482A>C, XM_006714875.3:c.821A>T, XM_006714875.3:c.821A>C, XM_011534579.3:c.506A>T, XM_011534579.3:c.506A>C, XM_011534579.2:c.506A>T, XM_011534579.2:c.506A>C, XM_011534579.1:c.506A>T, XM_011534579.1:c.506A>C, NM_001190946.3:c.821A>T, NM_001190946.3:c.821A>C, NM_001190946.2:c.821A>T, NM_001190946.2:c.821A>C, NM_001190946.1:c.821A>T, NM_001190946.1:c.821A>C, XR_427804.3:n.926A>T, XR_427804.3:n.926A>C, XR_427804.2:n.836A>T, XR_427804.2:n.836A>C, XR_427804.1:n.852A>T, XR_427804.1:n.852A>C, NR_024019.2:n.2081A>T, NR_024019.2:n.2081A>C, XM_011534573.2:c.689A>T, XM_011534573.2:c.689A>C, XM_011534573.1:c.689A>T, XM_011534573.1:c.689A>C, XM_011534572.2:c.716A>T, XM_011534572.2:c.716A>C, XM_011534572.1:c.716A>T, XM_011534572.1:c.716A>C, NM_019057.2:c.-790A>T, NM_019057.2:c.-790A>C, NM_001366498.1:c.-790A>T, NM_001366498.1:c.-790A>C, NM_001366499.1:c.-721A>T, NM_001366499.1:c.-721A>C, NM_001366500.1:c.482A>T, NM_001366500.1:c.482A>C, NM_001410826.1:c.821A>T, NM_001410826.1:c.821A>C, XM_047417327.1:c.689A>T, XM_047417327.1:c.689A>C, XM_047417330.1:c.173A>T, XM_047417330.1:c.173A>C, XR_007058607.1:n.926A>T, XR_007058607.1:n.926A>C, XM_047417328.1:c.821A>T, XM_047417328.1:c.821A>C, XR_007058608.1:n.926A>T, XR_007058608.1:n.926A>C, XM_047417332.1:c.821A>T, XM_047417332.1:c.821A>C, XP_006714942.1:p.His161Leu, XP_006714942.1:p.His161Pro, XP_011532882.1:p.His161Leu, XP_011532882.1:p.His161Pro, XP_006714943.1:p.His161Leu, XP_006714943.1:p.His161Pro, XP_006714938.1:p.His274Leu, XP_006714938.1:p.His274Pro, XP_011532881.1:p.His169Leu, XP_011532881.1:p.His169Pro, NP_001177875.1:p.His274Leu, NP_001177875.1:p.His274Pro, XP_011532875.1:p.His230Leu, XP_011532875.1:p.His230Pro, XP_011532874.1:p.His239Leu, XP_011532874.1:p.His239Pro, NP_001353429.1:p.His161Leu, NP_001353429.1:p.His161Pro, XP_047273283.1:p.His230Leu, XP_047273283.1:p.His230Pro, XP_047273286.1:p.His58Leu, XP_047273286.1:p.His58Pro, XP_047273284.1:p.His274Leu, XP_047273284.1:p.His274Pro, XP_047273288.1:p.His274Leu, XP_047273288.1:p.His274Pro

                            14.

                            rs1478793179 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              5:177531422 (GRCh38)
                              5:176958423 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:177531421:T:A
                              Gene:
                              FAM193B (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000005.10:g.177531422T>A, NC_000005.9:g.176958423T>A, XM_006714879.4:c.1036A>T, XM_006714879.3:c.1036A>T, XM_006714879.2:c.1036A>T, XM_006714879.1:c.1036A>T, NR_024019.3:n.2921A>T, NM_019057.3:c.1036A>T, XM_011534580.3:c.1036A>T, XM_011534580.2:c.1036A>T, XM_011534580.1:c.1036A>T, XM_006714880.3:c.1036A>T, XM_006714880.2:c.1036A>T, XM_006714880.1:c.1036A>T, XM_006714875.3:c.1375A>T, XM_011534579.3:c.1060A>T, XM_011534579.2:c.1060A>T, XM_011534579.1:c.1060A>T, XR_427804.3:n.1480A>T, XR_427804.2:n.1390A>T, XR_427804.1:n.1406A>T, NR_024019.2:n.2883A>T, XM_011534573.2:c.1243A>T, XM_011534573.1:c.1243A>T, XM_011534572.2:c.1270A>T, XM_011534572.1:c.1270A>T, XM_024446121.2:c.427A>T, XM_024446121.1:c.427A>T, NM_019057.2:c.13A>T, NM_001366498.1:c.13A>T, NM_001366499.1:c.13A>T, NM_001366500.1:c.1036A>T, NM_001410826.1:c.1375A>T, XR_007058607.1:n.1480A>T, XM_047417328.1:c.1375A>T, NM_019057.1:c.13A>T, XP_006714942.1:p.Thr346Ser, XP_011532882.1:p.Thr346Ser, XP_006714943.1:p.Thr346Ser, XP_006714938.1:p.Thr459Ser, XP_011532881.1:p.Thr354Ser, XP_011532875.1:p.Thr415Ser, XP_011532874.1:p.Thr424Ser, XP_024301889.1:p.Thr143Ser, NP_001353427.1:p.Thr5Ser, NP_001353428.1:p.Thr5Ser, NP_001353429.1:p.Thr346Ser, XP_047273284.1:p.Thr459Ser

                              15.

                              rs1477986145 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:177524818 (GRCh38)
                                5:176951819 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:177524817:G:A
                                Gene:
                                FAM193B (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000005.10:g.177524818G>A, NC_000005.9:g.176951819G>A, XM_006714879.4:c.1564C>T, XM_006714879.3:c.1564C>T, XM_006714879.2:c.1564C>T, XM_006714879.1:c.1564C>T, NR_024019.3:n.3449C>T, NM_019057.3:c.1564C>T, XM_011534580.3:c.1564C>T, XM_011534580.2:c.1564C>T, XM_011534580.1:c.1564C>T, XM_006714880.3:c.1564C>T, XM_006714880.2:c.1564C>T, XM_006714880.1:c.1564C>T, XM_006714875.3:c.1903C>T, XM_011534579.3:c.1588C>T, XM_011534579.2:c.1588C>T, XM_011534579.1:c.1588C>T, NM_001190946.3:c.1663C>T, NM_001190946.2:c.1663C>T, NM_001190946.1:c.1663C>T, XR_427804.3:n.2008C>T, XR_427804.2:n.1918C>T, XR_427804.1:n.1934C>T, NR_024019.2:n.3411C>T, XM_011534573.2:c.1771C>T, XM_011534573.1:c.1771C>T, XM_011534572.2:c.1798C>T, XM_011534572.1:c.1798C>T, XM_024446121.2:c.955C>T, XM_024446121.1:c.955C>T, NM_019057.2:c.541C>T, NM_001366498.1:c.541C>T, NM_001366499.1:c.541C>T, NM_001366500.1:c.1564C>T, NM_001410826.1:c.1903C>T, XM_047417327.1:c.1531C>T, XM_047417330.1:c.1015C>T, XR_007058607.1:n.2008C>T, XM_047417328.1:c.1903C>T, XR_007058608.1:n.1768C>T, XM_047417331.1:c.715C>T, NM_019057.1:c.541C>T, XP_006714942.1:p.Pro522Ser, XP_011532882.1:p.Pro522Ser, XP_006714943.1:p.Pro522Ser, XP_006714938.1:p.Pro635Ser, XP_011532881.1:p.Pro530Ser, NP_001177875.1:p.Pro555Ser, XP_011532875.1:p.Pro591Ser, XP_011532874.1:p.Pro600Ser, XP_024301889.1:p.Pro319Ser, NP_001353427.1:p.Pro181Ser, NP_001353428.1:p.Pro181Ser, NP_001353429.1:p.Pro522Ser, XP_047273283.1:p.Pro511Ser, XP_047273286.1:p.Pro339Ser, XP_047273284.1:p.Pro635Ser, XP_047273287.1:p.Pro239Ser

                                16.

                                rs1476787120 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  5:177524253 (GRCh38)
                                  5:176951254 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:177524252:C:A
                                  Gene:
                                  FAM193B (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000005.10:g.177524253C>A, NC_000005.9:g.176951254C>A, XM_006714879.4:c.2129G>T, XM_006714879.3:c.2129G>T, XM_006714879.2:c.2129G>T, XM_006714879.1:c.2129G>T, NR_024019.3:n.4014G>T, NM_019057.3:c.2129G>T, XM_011534580.3:c.2129G>T, XM_011534580.2:c.2129G>T, XM_011534580.1:c.2129G>T, XM_006714880.3:c.2129G>T, XM_006714880.2:c.2129G>T, XM_006714880.1:c.2129G>T, XM_006714875.3:c.2468G>T, XM_011534579.3:c.2153G>T, XM_011534579.2:c.2153G>T, XM_011534579.1:c.2153G>T, NM_001190946.3:c.2228G>T, NM_001190946.2:c.2228G>T, NM_001190946.1:c.2228G>T, NR_024019.2:n.3976G>T, XM_011534573.2:c.2336G>T, XM_011534573.1:c.2336G>T, XM_011534572.2:c.2363G>T, XM_011534572.1:c.2363G>T, XM_024446121.2:c.1520G>T, XM_024446121.1:c.1520G>T, NM_019057.2:c.1106G>T, NM_001366498.1:c.1106G>T, NM_001366499.1:c.1106G>T, NM_001366500.1:c.2129G>T, NM_001410826.1:c.2468G>T, XM_047417327.1:c.2096G>T, XM_047417330.1:c.1580G>T, XR_007058607.1:n.2573G>T, XM_047417331.1:c.1280G>T, NM_019057.1:c.1106G>T, XP_006714942.1:p.Ser710Ile, XP_011532882.1:p.Ser710Ile, XP_006714943.1:p.Ser710Ile, XP_006714938.1:p.Ser823Ile, XP_011532881.1:p.Ser718Ile, NP_001177875.1:p.Ser743Ile, XP_011532875.1:p.Ser779Ile, XP_011532874.1:p.Ser788Ile, XP_024301889.1:p.Ser507Ile, NP_001353427.1:p.Ser369Ile, NP_001353428.1:p.Ser369Ile, NP_001353429.1:p.Ser710Ile, XP_047273283.1:p.Ser699Ile, XP_047273286.1:p.Ser527Ile, XP_047273287.1:p.Ser427Ile

                                  17.

                                  rs1476154999 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:177531383 (GRCh38)
                                    5:176958384 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:177531382:G:A
                                    Gene:
                                    FAM193B (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000047/1 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.177531383G>A, NC_000005.9:g.176958384G>A, XM_006714879.4:c.1075C>T, XM_006714879.3:c.1075C>T, XM_006714879.2:c.1075C>T, XM_006714879.1:c.1075C>T, NR_024019.3:n.2960C>T, NM_019057.3:c.1075C>T, XM_011534580.3:c.1075C>T, XM_011534580.2:c.1075C>T, XM_011534580.1:c.1075C>T, XM_006714880.3:c.1075C>T, XM_006714880.2:c.1075C>T, XM_006714880.1:c.1075C>T, XM_006714875.3:c.1414C>T, XM_011534579.3:c.1099C>T, XM_011534579.2:c.1099C>T, XM_011534579.1:c.1099C>T, XR_427804.3:n.1519C>T, XR_427804.2:n.1429C>T, XR_427804.1:n.1445C>T, NR_024019.2:n.2922C>T, XM_011534573.2:c.1282C>T, XM_011534573.1:c.1282C>T, XM_011534572.2:c.1309C>T, XM_011534572.1:c.1309C>T, XM_024446121.2:c.466C>T, XM_024446121.1:c.466C>T, NM_019057.2:c.52C>T, NM_001366498.1:c.52C>T, NM_001366499.1:c.52C>T, NM_001366500.1:c.1075C>T, NM_001410826.1:c.1414C>T, XR_007058607.1:n.1519C>T, XM_047417328.1:c.1414C>T, NM_019057.1:c.52C>T, XP_006714942.1:p.Arg359Ter, XP_011532882.1:p.Arg359Ter, XP_006714943.1:p.Arg359Ter, XP_006714938.1:p.Arg472Ter, XP_011532881.1:p.Arg367Ter, XP_011532875.1:p.Arg428Ter, XP_011532874.1:p.Arg437Ter, XP_024301889.1:p.Arg156Ter, NP_001353427.1:p.Arg18Ter, NP_001353428.1:p.Arg18Ter, NP_001353429.1:p.Arg359Ter, XP_047273284.1:p.Arg472Ter

                                    18.

                                    rs1476094422 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      5:177524739 (GRCh38)
                                      5:176951740 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:177524738:T:A,NC_000005.10:177524738:T:C
                                      Gene:
                                      FAM193B (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000005/1 (GnomAD_exomes)
                                      A=0.000071/1 (TOMMO)
                                      HGVS:
                                      NC_000005.10:g.177524739T>A, NC_000005.10:g.177524739T>C, NC_000005.9:g.176951740T>A, NC_000005.9:g.176951740T>C, XM_006714879.4:c.1643A>T, XM_006714879.4:c.1643A>G, XM_006714879.3:c.1643A>T, XM_006714879.3:c.1643A>G, XM_006714879.2:c.1643A>T, XM_006714879.2:c.1643A>G, XM_006714879.1:c.1643A>T, XM_006714879.1:c.1643A>G, NR_024019.3:n.3528A>T, NR_024019.3:n.3528A>G, NM_019057.3:c.1643A>T, NM_019057.3:c.1643A>G, XM_011534580.3:c.1643A>T, XM_011534580.3:c.1643A>G, XM_011534580.2:c.1643A>T, XM_011534580.2:c.1643A>G, XM_011534580.1:c.1643A>T, XM_011534580.1:c.1643A>G, XM_006714880.3:c.1643A>T, XM_006714880.3:c.1643A>G, XM_006714880.2:c.1643A>T, XM_006714880.2:c.1643A>G, XM_006714880.1:c.1643A>T, XM_006714880.1:c.1643A>G, XM_006714875.3:c.1982A>T, XM_006714875.3:c.1982A>G, XM_011534579.3:c.1667A>T, XM_011534579.3:c.1667A>G, XM_011534579.2:c.1667A>T, XM_011534579.2:c.1667A>G, XM_011534579.1:c.1667A>T, XM_011534579.1:c.1667A>G, NM_001190946.3:c.1742A>T, NM_001190946.3:c.1742A>G, NM_001190946.2:c.1742A>T, NM_001190946.2:c.1742A>G, NM_001190946.1:c.1742A>T, NM_001190946.1:c.1742A>G, NR_024019.2:n.3490A>T, NR_024019.2:n.3490A>G, XM_011534573.2:c.1850A>T, XM_011534573.2:c.1850A>G, XM_011534573.1:c.1850A>T, XM_011534573.1:c.1850A>G, XM_011534572.2:c.1877A>T, XM_011534572.2:c.1877A>G, XM_011534572.1:c.1877A>T, XM_011534572.1:c.1877A>G, XM_024446121.2:c.1034A>T, XM_024446121.2:c.1034A>G, XM_024446121.1:c.1034A>T, XM_024446121.1:c.1034A>G, NM_019057.2:c.620A>T, NM_019057.2:c.620A>G, NM_001366498.1:c.620A>T, NM_001366498.1:c.620A>G, NM_001366499.1:c.620A>T, NM_001366499.1:c.620A>G, NM_001366500.1:c.1643A>T, NM_001366500.1:c.1643A>G, NM_001410826.1:c.1982A>T, NM_001410826.1:c.1982A>G, XM_047417327.1:c.1610A>T, XM_047417327.1:c.1610A>G, XM_047417330.1:c.1094A>T, XM_047417330.1:c.1094A>G, XR_007058607.1:n.2087A>T, XR_007058607.1:n.2087A>G, XM_047417331.1:c.794A>T, XM_047417331.1:c.794A>G, NM_019057.1:c.620A>T, NM_019057.1:c.620A>G, XP_006714942.1:p.Asn548Ile, XP_006714942.1:p.Asn548Ser, XP_011532882.1:p.Asn548Ile, XP_011532882.1:p.Asn548Ser, XP_006714943.1:p.Asn548Ile, XP_006714943.1:p.Asn548Ser, XP_006714938.1:p.Asn661Ile, XP_006714938.1:p.Asn661Ser, XP_011532881.1:p.Asn556Ile, XP_011532881.1:p.Asn556Ser, NP_001177875.1:p.Asn581Ile, NP_001177875.1:p.Asn581Ser, XP_011532875.1:p.Asn617Ile, XP_011532875.1:p.Asn617Ser, XP_011532874.1:p.Asn626Ile, XP_011532874.1:p.Asn626Ser, XP_024301889.1:p.Asn345Ile, XP_024301889.1:p.Asn345Ser, NP_001353427.1:p.Asn207Ile, NP_001353427.1:p.Asn207Ser, NP_001353428.1:p.Asn207Ile, NP_001353428.1:p.Asn207Ser, NP_001353429.1:p.Asn548Ile, NP_001353429.1:p.Asn548Ser, XP_047273283.1:p.Asn537Ile, XP_047273283.1:p.Asn537Ser, XP_047273286.1:p.Asn365Ile, XP_047273286.1:p.Asn365Ser, XP_047273287.1:p.Asn265Ile, XP_047273287.1:p.Asn265Ser

                                      19.

                                      rs1474617323 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TG>- [Show Flanks]
                                        Chromosome:
                                        5:177538078 (GRCh38)
                                        5:176965079 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:177538075:TGTG:TG
                                        Gene:
                                        FAM193B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,frameshift_variant,upstream_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.177538076TG[1], NC_000005.9:g.176965077TG[1], XM_006714879.4:c.145_146del, XM_006714879.3:c.145_146del, XM_006714879.2:c.145_146del, XM_006714879.1:c.145_146del, NR_024019.3:n.1780CA[1], NM_019057.3:c.145_146del, XM_011534580.3:c.145_146del, XM_011534580.2:c.145_146del, XM_011534580.1:c.145_146del, XM_006714880.3:c.145_146del, XM_006714880.2:c.145_146del, XM_006714880.1:c.145_146del, XM_006714875.3:c.484_485del, XM_011534579.3:c.169_170del, XM_011534579.2:c.169_170del, XM_011534579.1:c.169_170del, NM_001190946.3:c.484_485del, NM_001190946.2:c.484_485del, NM_001190946.1:c.484_485del, XR_427804.3:n.587CA[1], XR_427804.2:n.497CA[1], XR_427804.1:n.513CA[1], NR_024019.2:n.1742CA[1], XM_011534573.2:c.352_353del, XM_011534573.1:c.352_353del, XM_011534572.2:c.379_380del, XM_011534572.1:c.379_380del, NM_019057.2:c.-1129CA[1], NM_001366498.1:c.-1129CA[1], NM_001366499.1:c.-1060CA[1], NM_001366500.1:c.145_146del, NM_001410826.1:c.484_485del, XM_047417327.1:c.352_353del, XM_047417330.1:c.-167CA[1], XR_007058607.1:n.587CA[1], XM_047417328.1:c.484_485del, XR_007058608.1:n.587CA[1], XM_047417332.1:c.484_485del, XP_006714942.1:p.Gln49fs, XP_011532882.1:p.Gln49fs, XP_006714943.1:p.Gln49fs, XP_006714938.1:p.Gln162fs, XP_011532881.1:p.Gln57fs, NP_001177875.1:p.Gln162fs, XP_011532875.1:p.Gln118fs, XP_011532874.1:p.Gln127fs, NP_001353429.1:p.Gln49fs, XP_047273283.1:p.Gln118fs, XP_047273284.1:p.Gln162fs, XP_047273288.1:p.Gln162fs

                                        20.

                                        rs1474568108 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:177524285 (GRCh38)
                                          5:176951286 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:177524284:A:G
                                          Gene:
                                          FAM193B (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000005.10:g.177524285A>G, NC_000005.9:g.176951286A>G, XM_006714879.4:c.2097T>C, XM_006714879.3:c.2097T>C, XM_006714879.2:c.2097T>C, XM_006714879.1:c.2097T>C, NR_024019.3:n.3982T>C, NM_019057.3:c.2097T>C, XM_011534580.3:c.2097T>C, XM_011534580.2:c.2097T>C, XM_011534580.1:c.2097T>C, XM_006714880.3:c.2097T>C, XM_006714880.2:c.2097T>C, XM_006714880.1:c.2097T>C, XM_006714875.3:c.2436T>C, XM_011534579.3:c.2121T>C, XM_011534579.2:c.2121T>C, XM_011534579.1:c.2121T>C, NM_001190946.3:c.2196T>C, NM_001190946.2:c.2196T>C, NM_001190946.1:c.2196T>C, NR_024019.2:n.3944T>C, XM_011534573.2:c.2304T>C, XM_011534573.1:c.2304T>C, XM_011534572.2:c.2331T>C, XM_011534572.1:c.2331T>C, XM_024446121.2:c.1488T>C, XM_024446121.1:c.1488T>C, NM_019057.2:c.1074T>C, NM_001366498.1:c.1074T>C, NM_001366499.1:c.1074T>C, NM_001366500.1:c.2097T>C, NM_001410826.1:c.2436T>C, XM_047417327.1:c.2064T>C, XM_047417330.1:c.1548T>C, XR_007058607.1:n.2541T>C, XM_047417331.1:c.1248T>C, NM_019057.1:c.1074T>C

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