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Items: 1 to 20 of 260

1.

rs1490741624 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:73040886 (GRCh38)
    2:73268015 (GRCh37)
    Canonical SPDI:
    NC_000002.12:73040885:C:T
    Gene:
    SFXN5 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000002.12:g.73040886C>T, NC_000002.11:g.73268015C>T, NM_144579.3:c.217G>A, NM_144579.2:c.217G>A, NM_001330404.2:c.-96G>A, NM_001330404.1:c.-96G>A, NM_001330403.2:c.160G>A, NM_001330403.1:c.160G>A, NR_138476.2:n.280G>A, NR_138476.1:n.301G>A, NM_001330400.2:c.217G>A, NM_001330400.1:c.217G>A, NM_001330406.2:c.160G>A, NM_001330406.1:c.160G>A, NM_001330407.2:c.-96G>A, NM_001330407.1:c.-96G>A, NM_001330411.2:c.-214G>A, NM_001330411.1:c.-214G>A, NM_001330405.2:c.160G>A, NM_001330405.1:c.160G>A, NM_001330410.2:c.-96G>A, NM_001330410.1:c.-96G>A, NM_001330412.2:c.-214G>A, NM_001330412.1:c.-214G>A, NM_001330402.2:c.217G>A, NM_001330402.1:c.217G>A, NM_001330408.2:c.-96G>A, NM_001330408.1:c.-96G>A, NM_001330401.2:c.217G>A, NM_001330401.1:c.217G>A, NM_001371737.1:c.211G>A, NM_001371738.1:c.154G>A, NM_001371739.1:c.148G>A, NM_001371740.1:c.217G>A, NM_001371741.1:c.217G>A, NM_001371742.1:c.217G>A, NM_001371743.1:c.217G>A, NP_653180.1:p.Gly73Arg, NP_001317332.1:p.Gly54Arg, NP_001317329.1:p.Gly73Arg, NP_001317335.1:p.Gly54Arg, NP_001317334.1:p.Gly54Arg, NP_001317331.1:p.Gly73Arg, NP_001317330.1:p.Gly73Arg, NP_001358666.1:p.Gly71Arg, NP_001358667.1:p.Gly52Arg, NP_001358668.1:p.Gly50Arg, NP_001358669.1:p.Gly73Arg, NP_001358670.1:p.Gly73Arg, NP_001358671.1:p.Gly73Arg, NP_001358672.1:p.Gly73Arg

    2.

    rs1483632404 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      2:73001533 (GRCh38)
      2:73228662 (GRCh37)
      Canonical SPDI:
      NC_000002.12:73001532:A:C
      Gene:
      SFXN5 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.73001533A>C, NC_000002.11:g.73228662A>C, NG_073983.1:g.494A>C, NM_144579.3:c.403T>G, NM_144579.2:c.403T>G, NM_001330404.2:c.91T>G, NM_001330404.1:c.91T>G, NM_001330403.2:c.346T>G, NM_001330403.1:c.346T>G, NR_138476.2:n.466T>G, NR_138476.1:n.487T>G, NM_001330400.2:c.403T>G, NM_001330400.1:c.403T>G, NM_001330406.2:c.346T>G, NM_001330406.1:c.346T>G, NM_001330407.2:c.91T>G, NM_001330407.1:c.91T>G, NM_001330411.2:c.-28T>G, NM_001330411.1:c.-28T>G, NM_001330405.2:c.346T>G, NM_001330405.1:c.346T>G, NM_001330410.2:c.91T>G, NM_001330410.1:c.91T>G, NM_001330412.2:c.-28T>G, NM_001330412.1:c.-28T>G, NM_001330402.2:c.403T>G, NM_001330402.1:c.403T>G, NM_001330408.2:c.91T>G, NM_001330408.1:c.91T>G, NM_001330401.2:c.403T>G, NM_001330401.1:c.403T>G, NM_001371737.1:c.397T>G, NM_001371738.1:c.340T>G, NM_001371739.1:c.334T>G, NM_001371740.1:c.403T>G, NM_001371741.1:c.403T>G, NM_001371742.1:c.403T>G, NM_001371743.1:c.403T>G, NP_653180.1:p.Phe135Val, NP_001317333.1:p.Phe31Val, NP_001317332.1:p.Phe116Val, NP_001317329.1:p.Phe135Val, NP_001317335.1:p.Phe116Val, NP_001317336.1:p.Phe31Val, NP_001317334.1:p.Phe116Val, NP_001317339.1:p.Phe31Val, NP_001317331.1:p.Phe135Val, NP_001317337.1:p.Phe31Val, NP_001317330.1:p.Phe135Val, NP_001358666.1:p.Phe133Val, NP_001358667.1:p.Phe114Val, NP_001358668.1:p.Phe112Val, NP_001358669.1:p.Phe135Val, NP_001358670.1:p.Phe135Val, NP_001358671.1:p.Phe135Val, NP_001358672.1:p.Phe135Val

      3.

      rs1479522713 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:72961246 (GRCh38)
        2:73188375 (GRCh37)
        Canonical SPDI:
        NC_000002.12:72961245:G:A
        Gene:
        SFXN5 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_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_000002.12:g.72961246G>A, NC_000002.11:g.73188375G>A, NM_144579.3:c.830C>T, NM_144579.2:c.830C>T, NM_001330404.2:c.518C>T, NM_001330404.1:c.518C>T, NM_001330403.2:c.571C>T, NM_001330403.1:c.571C>T, NR_138476.2:n.980C>T, NR_138476.1:n.1001C>T, NM_001330400.2:c.830C>T, NM_001330400.1:c.830C>T, NM_001330406.2:c.773C>T, NM_001330406.1:c.773C>T, NM_001330407.2:c.518C>T, NM_001330407.1:c.518C>T, NM_001330411.2:c.377C>T, NM_001330411.1:c.377C>T, NM_001330410.2:c.518C>T, NM_001330410.1:c.518C>T, NM_001330412.2:c.377C>T, NM_001330412.1:c.377C>T, NM_001330401.2:c.628C>T, NM_001330401.1:c.628C>T, NM_001371737.1:c.824C>T, NM_001371738.1:c.767C>T, NM_001371739.1:c.761C>T, NM_001371740.1:c.744C>T, NP_653180.1:p.Thr277Met, NP_001317333.1:p.Thr173Met, NP_001317332.1:p.Arg191Trp, NP_001317329.1:p.Thr277Met, NP_001317335.1:p.Thr258Met, NP_001317336.1:p.Thr173Met, NP_001317340.1:p.Thr126Met, NP_001317339.1:p.Thr173Met, NP_001317341.1:p.Thr126Met, NP_001317330.1:p.Arg210Trp, NP_001358666.1:p.Thr275Met, NP_001358667.1:p.Thr256Met, NP_001358668.1:p.Thr254Met

        4.

        rs1472714551 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:73001528 (GRCh38)
          2:73228657 (GRCh37)
          Canonical SPDI:
          NC_000002.12:73001527:C:T
          Gene:
          SFXN5 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.73001528C>T, NC_000002.11:g.73228657C>T, NG_073983.1:g.489C>T, NM_144579.3:c.408G>A, NM_144579.2:c.408G>A, NM_001330404.2:c.96G>A, NM_001330404.1:c.96G>A, NM_001330403.2:c.351G>A, NM_001330403.1:c.351G>A, NR_138476.2:n.471G>A, NR_138476.1:n.492G>A, NM_001330400.2:c.408G>A, NM_001330400.1:c.408G>A, NM_001330406.2:c.351G>A, NM_001330406.1:c.351G>A, NM_001330407.2:c.96G>A, NM_001330407.1:c.96G>A, NM_001330411.2:c.-23G>A, NM_001330411.1:c.-23G>A, NM_001330405.2:c.351G>A, NM_001330405.1:c.351G>A, NM_001330410.2:c.96G>A, NM_001330410.1:c.96G>A, NM_001330412.2:c.-23G>A, NM_001330412.1:c.-23G>A, NM_001330402.2:c.408G>A, NM_001330402.1:c.408G>A, NM_001330408.2:c.96G>A, NM_001330408.1:c.96G>A, NM_001330401.2:c.408G>A, NM_001330401.1:c.408G>A, NM_001371737.1:c.402G>A, NM_001371738.1:c.345G>A, NM_001371739.1:c.339G>A, NM_001371740.1:c.408G>A, NM_001371741.1:c.408G>A, NM_001371742.1:c.408G>A, NM_001371743.1:c.408G>A, NP_653180.1:p.Trp136Ter, NP_001317333.1:p.Trp32Ter, NP_001317332.1:p.Trp117Ter, NP_001317329.1:p.Trp136Ter, NP_001317335.1:p.Trp117Ter, NP_001317336.1:p.Trp32Ter, NP_001317334.1:p.Trp117Ter, NP_001317339.1:p.Trp32Ter, NP_001317331.1:p.Trp136Ter, NP_001317337.1:p.Trp32Ter, NP_001317330.1:p.Trp136Ter, NP_001358666.1:p.Trp134Ter, NP_001358667.1:p.Trp115Ter, NP_001358668.1:p.Trp113Ter, NP_001358669.1:p.Trp136Ter, NP_001358670.1:p.Trp136Ter, NP_001358671.1:p.Trp136Ter, NP_001358672.1:p.Trp136Ter

          5.

          rs1471537391 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:72988330 (GRCh38)
            2:73215459 (GRCh37)
            Canonical SPDI:
            NC_000002.12:72988329:C:T
            Gene:
            SFXN5 (Varview)
            Functional Consequence:
            missense_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000047/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.72988330C>T, NC_000002.11:g.73215459C>T, NM_144579.3:c.553G>A, NM_144579.2:c.553G>A, NM_001330404.2:c.241G>A, NM_001330404.1:c.241G>A, NM_001330403.2:c.496G>A, NM_001330403.1:c.496G>A, NR_138476.2:n.616G>A, NR_138476.1:n.637G>A, NM_001330400.2:c.553G>A, NM_001330400.1:c.553G>A, NM_001330406.2:c.496G>A, NM_001330406.1:c.496G>A, NM_001330407.2:c.241G>A, NM_001330407.1:c.241G>A, NM_001330411.2:c.123G>A, NM_001330411.1:c.123G>A, NM_001330405.2:c.496G>A, NM_001330405.1:c.496G>A, NM_001330410.2:c.241G>A, NM_001330410.1:c.241G>A, NM_001330412.2:c.123G>A, NM_001330412.1:c.123G>A, NM_001330402.2:c.553G>A, NM_001330402.1:c.553G>A, NM_001330408.2:c.241G>A, NM_001330408.1:c.241G>A, NM_001330401.2:c.553G>A, NM_001330401.1:c.553G>A, NM_001371737.1:c.547G>A, NM_001371738.1:c.490G>A, NM_001371739.1:c.484G>A, NM_001371740.1:c.553G>A, NM_001371741.1:c.553G>A, NM_001371742.1:c.553G>A, NP_653180.1:p.Val185Ile, NP_001317333.1:p.Val81Ile, NP_001317332.1:p.Val166Ile, NP_001317329.1:p.Val185Ile, NP_001317335.1:p.Val166Ile, NP_001317336.1:p.Val81Ile, NP_001317340.1:p.Trp41Ter, NP_001317334.1:p.Val166Ile, NP_001317339.1:p.Val81Ile, NP_001317341.1:p.Trp41Ter, NP_001317331.1:p.Val185Ile, NP_001317337.1:p.Val81Ile, NP_001317330.1:p.Val185Ile, NP_001358666.1:p.Val183Ile, NP_001358667.1:p.Val164Ile, NP_001358668.1:p.Val162Ile, NP_001358669.1:p.Val185Ile, NP_001358670.1:p.Val185Ile, NP_001358671.1:p.Val185Ile

            6.

            rs1470632616 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:73040863 (GRCh38)
              2:73267992 (GRCh37)
              Canonical SPDI:
              NC_000002.12:73040862:G:A
              Gene:
              SFXN5 (Varview)
              Functional Consequence:
              coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000048/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.73040863G>A, NC_000002.11:g.73267992G>A, NM_144579.3:c.240C>T, NM_144579.2:c.240C>T, NM_001330404.2:c.-73C>T, NM_001330404.1:c.-73C>T, NM_001330403.2:c.183C>T, NM_001330403.1:c.183C>T, NR_138476.2:n.303C>T, NR_138476.1:n.324C>T, NM_001330400.2:c.240C>T, NM_001330400.1:c.240C>T, NM_001330406.2:c.183C>T, NM_001330406.1:c.183C>T, NM_001330407.2:c.-73C>T, NM_001330407.1:c.-73C>T, NM_001330411.2:c.-191C>T, NM_001330411.1:c.-191C>T, NM_001330405.2:c.183C>T, NM_001330405.1:c.183C>T, NM_001330410.2:c.-73C>T, NM_001330410.1:c.-73C>T, NM_001330412.2:c.-191C>T, NM_001330412.1:c.-191C>T, NM_001330402.2:c.240C>T, NM_001330402.1:c.240C>T, NM_001330408.2:c.-73C>T, NM_001330408.1:c.-73C>T, NM_001330401.2:c.240C>T, NM_001330401.1:c.240C>T, NM_001371737.1:c.234C>T, NM_001371738.1:c.177C>T, NM_001371739.1:c.171C>T, NM_001371740.1:c.240C>T, NM_001371741.1:c.240C>T, NM_001371742.1:c.240C>T, NM_001371743.1:c.240C>T

              7.

              rs1466293139 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:72961184 (GRCh38)
                2:73188313 (GRCh37)
                Canonical SPDI:
                NC_000002.12:72961183:C:T
                Gene:
                SFXN5 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                HGVS:
                NC_000002.12:g.72961184C>T, NC_000002.11:g.73188313C>T, NM_144579.3:c.892G>A, NM_144579.2:c.892G>A, NM_001330404.2:c.580G>A, NM_001330404.1:c.580G>A, NM_001330403.2:c.633G>A, NM_001330403.1:c.633G>A, NR_138476.2:n.1042G>A, NR_138476.1:n.1063G>A, NM_001330400.2:c.892G>A, NM_001330400.1:c.892G>A, NM_001330406.2:c.835G>A, NM_001330406.1:c.835G>A, NM_001330407.2:c.580G>A, NM_001330407.1:c.580G>A, NM_001330411.2:c.439G>A, NM_001330411.1:c.439G>A, NM_001330410.2:c.580G>A, NM_001330410.1:c.580G>A, NM_001330412.2:c.439G>A, NM_001330412.1:c.439G>A, NM_001330401.2:c.690G>A, NM_001330401.1:c.690G>A, NM_001371737.1:c.886G>A, NM_001371738.1:c.829G>A, NM_001371739.1:c.823G>A, NM_001371740.1:c.806G>A, NP_653180.1:p.Ala298Thr, NP_001317333.1:p.Ala194Thr, NP_001317329.1:p.Ala298Thr, NP_001317335.1:p.Ala279Thr, NP_001317336.1:p.Ala194Thr, NP_001317340.1:p.Ala147Thr, NP_001317339.1:p.Ala194Thr, NP_001317341.1:p.Ala147Thr, NP_001358666.1:p.Ala296Thr, NP_001358667.1:p.Ala277Thr, NP_001358668.1:p.Ala275Thr, NP_001358669.1:p.Ser269Asn

                8.

                rs1464913931 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  2:73040887 (GRCh38)
                  2:73268016 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:73040886:A:C
                  Gene:
                  SFXN5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                  HGVS:
                  NC_000002.12:g.73040887A>C, NC_000002.11:g.73268016A>C, NM_144579.3:c.216T>G, NM_144579.2:c.216T>G, NM_001330404.2:c.-97T>G, NM_001330404.1:c.-97T>G, NM_001330403.2:c.159T>G, NM_001330403.1:c.159T>G, NR_138476.2:n.279T>G, NR_138476.1:n.300T>G, NM_001330400.2:c.216T>G, NM_001330400.1:c.216T>G, NM_001330406.2:c.159T>G, NM_001330406.1:c.159T>G, NM_001330407.2:c.-97T>G, NM_001330407.1:c.-97T>G, NM_001330411.2:c.-215T>G, NM_001330411.1:c.-215T>G, NM_001330405.2:c.159T>G, NM_001330405.1:c.159T>G, NM_001330410.2:c.-97T>G, NM_001330410.1:c.-97T>G, NM_001330412.2:c.-215T>G, NM_001330412.1:c.-215T>G, NM_001330402.2:c.216T>G, NM_001330402.1:c.216T>G, NM_001330408.2:c.-97T>G, NM_001330408.1:c.-97T>G, NM_001330401.2:c.216T>G, NM_001330401.1:c.216T>G, NM_001371737.1:c.210T>G, NM_001371738.1:c.153T>G, NM_001371739.1:c.147T>G, NM_001371740.1:c.216T>G, NM_001371741.1:c.216T>G, NM_001371742.1:c.216T>G, NM_001371743.1:c.216T>G, NP_653180.1:p.His72Gln, NP_001317332.1:p.His53Gln, NP_001317329.1:p.His72Gln, NP_001317335.1:p.His53Gln, NP_001317334.1:p.His53Gln, NP_001317331.1:p.His72Gln, NP_001317330.1:p.His72Gln, NP_001358666.1:p.His70Gln, NP_001358667.1:p.His51Gln, NP_001358668.1:p.His49Gln, NP_001358669.1:p.His72Gln, NP_001358670.1:p.His72Gln, NP_001358671.1:p.His72Gln, NP_001358672.1:p.His72Gln

                  9.

                  rs1463989706 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:72961155 (GRCh38)
                    2:73188284 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:72961154:G:A
                    Gene:
                    SFXN5 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    HGVS:

                    10.

                    rs1463657610 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GAGA [Show Flanks]
                      Chromosome:
                      2:72998955 (GRCh38)
                      2:73226085 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:72998955:GAGA:GAGAGAGA
                      Gene:
                      SFXN5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GAGAGAGA=0./0 (ALFA)
                      GAGA=0.000004/1 (TOPMED)
                      GAGA=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.72998956GA[4], NC_000002.11:g.73226085GA[4], NM_144579.3:c.524_527dup, NM_144579.2:c.524_527dup, NM_001330404.2:c.212_215dup, NM_001330404.1:c.212_215dup, NM_001330403.2:c.467_470dup, NM_001330403.1:c.467_470dup, NR_138476.2:n.587TC[4], NR_138476.1:n.608TC[4], NM_001330400.2:c.524_527dup, NM_001330400.1:c.524_527dup, NM_001330406.2:c.467_470dup, NM_001330406.1:c.467_470dup, NM_001330407.2:c.212_215dup, NM_001330407.1:c.212_215dup, NM_001330411.2:c.94_97dup, NM_001330411.1:c.94_97dup, NM_001330405.2:c.467_470dup, NM_001330405.1:c.467_470dup, NM_001330410.2:c.212_215dup, NM_001330410.1:c.212_215dup, NM_001330412.2:c.94_97dup, NM_001330412.1:c.94_97dup, NM_001330402.2:c.524_527dup, NM_001330402.1:c.524_527dup, NM_001330408.2:c.212_215dup, NM_001330408.1:c.212_215dup, NM_001330401.2:c.524_527dup, NM_001330401.1:c.524_527dup, NM_001371737.1:c.518_521dup, NM_001371738.1:c.461_464dup, NM_001371739.1:c.455_458dup, NM_001371740.1:c.524_527dup, NM_001371741.1:c.524_527dup, NM_001371742.1:c.524_527dup, NM_001371743.1:c.524_527dup, NP_653180.1:p.Ile177fs, NP_001317333.1:p.Ile73fs, NP_001317332.1:p.Ile158fs, NP_001317329.1:p.Ile177fs, NP_001317335.1:p.Ile158fs, NP_001317336.1:p.Ile73fs, NP_001317340.1:p.Pro33fs, NP_001317334.1:p.Ile158fs, NP_001317339.1:p.Ile73fs, NP_001317341.1:p.Pro33fs, NP_001317331.1:p.Ile177fs, NP_001317337.1:p.Ile73fs, NP_001317330.1:p.Ile177fs, NP_001358666.1:p.Ile175fs, NP_001358667.1:p.Ile156fs, NP_001358668.1:p.Ile154fs, NP_001358669.1:p.Ile177fs, NP_001358670.1:p.Ile177fs, NP_001358671.1:p.Ile177fs, NP_001358672.1:p.Ile177fs

                      11.

                      rs1459821140 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:73058573 (GRCh38)
                        2:73285702 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:73058572:C:T
                        Gene:
                        SFXN5 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000002.12:g.73058573C>T, NC_000002.11:g.73285702C>T, NM_144579.3:c.126G>A, NM_144579.2:c.126G>A, NM_001330404.2:c.-187G>A, NM_001330404.1:c.-187G>A, NM_001330403.2:c.14G>A, NM_001330403.1:c.14G>A, NR_138476.2:n.189G>A, NR_138476.1:n.210G>A, NM_001330400.2:c.126G>A, NM_001330400.1:c.126G>A, NM_001330406.2:c.14G>A, NM_001330406.1:c.14G>A, NM_001330407.2:c.-187G>A, NM_001330407.1:c.-187G>A, NM_001330411.2:c.-360G>A, NM_001330411.1:c.-360G>A, NM_001330405.2:c.14G>A, NM_001330405.1:c.14G>A, NM_001330410.2:c.-187G>A, NM_001330410.1:c.-187G>A, NM_001330412.2:c.-305G>A, NM_001330412.1:c.-305G>A, NM_001330402.2:c.126G>A, NM_001330402.1:c.126G>A, NM_001330408.2:c.-187G>A, NM_001330408.1:c.-187G>A, NM_001330401.2:c.126G>A, NM_001330401.1:c.126G>A, NM_001371737.1:c.65G>A, NM_001371738.1:c.65G>A, NM_001371740.1:c.126G>A, NM_001371741.1:c.126G>A, NM_001371742.1:c.126G>A, NM_001371743.1:c.126G>A, NP_001317332.1:p.Gly5Asp, NP_001317335.1:p.Gly5Asp, NP_001317334.1:p.Gly5Asp, NP_001358666.1:p.Gly22Asp, NP_001358667.1:p.Gly22Asp

                        12.

                        rs1458755391 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:72988346 (GRCh38)
                          2:73215475 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:72988345:C:T
                          Gene:
                          SFXN5 (Varview)
                          Functional Consequence:
                          synonymous_variant,stop_gained,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.72988346C>T, NC_000002.11:g.73215475C>T, NM_144579.3:c.537G>A, NM_144579.2:c.537G>A, NM_001330404.2:c.225G>A, NM_001330404.1:c.225G>A, NM_001330403.2:c.480G>A, NM_001330403.1:c.480G>A, NR_138476.2:n.600G>A, NR_138476.1:n.621G>A, NM_001330400.2:c.537G>A, NM_001330400.1:c.537G>A, NM_001330406.2:c.480G>A, NM_001330406.1:c.480G>A, NM_001330407.2:c.225G>A, NM_001330407.1:c.225G>A, NM_001330411.2:c.107G>A, NM_001330411.1:c.107G>A, NM_001330405.2:c.480G>A, NM_001330405.1:c.480G>A, NM_001330410.2:c.225G>A, NM_001330410.1:c.225G>A, NM_001330412.2:c.107G>A, NM_001330412.1:c.107G>A, NM_001330402.2:c.537G>A, NM_001330402.1:c.537G>A, NM_001330408.2:c.225G>A, NM_001330408.1:c.225G>A, NM_001330401.2:c.537G>A, NM_001330401.1:c.537G>A, NM_001371737.1:c.531G>A, NM_001371738.1:c.474G>A, NM_001371739.1:c.468G>A, NM_001371740.1:c.537G>A, NM_001371741.1:c.537G>A, NM_001371742.1:c.537G>A, NP_001317340.1:p.Trp36Ter, NP_001317341.1:p.Trp36Ter

                          13.

                          rs1458329807 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            2:72961212 (GRCh38)
                            2:73188341 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:72961211:G:A,NC_000002.12:72961211:G:T
                            Gene:
                            SFXN5 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000005/1 (GnomAD_exomes)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000002.12:g.72961212G>A, NC_000002.12:g.72961212G>T, NC_000002.11:g.73188341G>A, NC_000002.11:g.73188341G>T, NM_144579.3:c.864C>T, NM_144579.3:c.864C>A, NM_144579.2:c.864C>T, NM_144579.2:c.864C>A, NM_001330404.2:c.552C>T, NM_001330404.2:c.552C>A, NM_001330404.1:c.552C>T, NM_001330404.1:c.552C>A, NM_001330403.2:c.605C>T, NM_001330403.2:c.605C>A, NM_001330403.1:c.605C>T, NM_001330403.1:c.605C>A, NR_138476.2:n.1014C>T, NR_138476.2:n.1014C>A, NR_138476.1:n.1035C>T, NR_138476.1:n.1035C>A, NM_001330400.2:c.864C>T, NM_001330400.2:c.864C>A, NM_001330400.1:c.864C>T, NM_001330400.1:c.864C>A, NM_001330406.2:c.807C>T, NM_001330406.2:c.807C>A, NM_001330406.1:c.807C>T, NM_001330406.1:c.807C>A, NM_001330407.2:c.552C>T, NM_001330407.2:c.552C>A, NM_001330407.1:c.552C>T, NM_001330407.1:c.552C>A, NM_001330411.2:c.411C>T, NM_001330411.2:c.411C>A, NM_001330411.1:c.411C>T, NM_001330411.1:c.411C>A, NM_001330410.2:c.552C>T, NM_001330410.2:c.552C>A, NM_001330410.1:c.552C>T, NM_001330410.1:c.552C>A, NM_001330412.2:c.411C>T, NM_001330412.2:c.411C>A, NM_001330412.1:c.411C>T, NM_001330412.1:c.411C>A, NM_001330401.2:c.662C>T, NM_001330401.2:c.662C>A, NM_001330401.1:c.662C>T, NM_001330401.1:c.662C>A, NM_001371737.1:c.858C>T, NM_001371737.1:c.858C>A, NM_001371738.1:c.801C>T, NM_001371738.1:c.801C>A, NM_001371739.1:c.795C>T, NM_001371739.1:c.795C>A, NM_001371740.1:c.778C>T, NM_001371740.1:c.778C>A, NP_001317332.1:p.Ser202Phe, NP_001317332.1:p.Ser202Tyr, NP_001317330.1:p.Ser221Phe, NP_001317330.1:p.Ser221Tyr, NP_001358669.1:p.Pro260Ser, NP_001358669.1:p.Pro260Thr

                            14.

                            rs1458009183 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:73000462 (GRCh38)
                              2:73227591 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:73000461:C:T
                              Gene:
                              SFXN5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              HGVS:
                              NC_000002.12:g.73000462C>T, NC_000002.11:g.73227591C>T, NM_144579.3:c.437G>A, NM_144579.2:c.437G>A, NM_001330404.2:c.125G>A, NM_001330404.1:c.125G>A, NM_001330403.2:c.380G>A, NM_001330403.1:c.380G>A, NR_138476.2:n.500G>A, NR_138476.1:n.521G>A, NM_001330400.2:c.437G>A, NM_001330400.1:c.437G>A, NM_001330406.2:c.380G>A, NM_001330406.1:c.380G>A, NM_001330407.2:c.125G>A, NM_001330407.1:c.125G>A, NM_001330411.2:c.7G>A, NM_001330411.1:c.7G>A, NM_001330405.2:c.380G>A, NM_001330405.1:c.380G>A, NM_001330410.2:c.125G>A, NM_001330410.1:c.125G>A, NM_001330412.2:c.7G>A, NM_001330412.1:c.7G>A, NM_001330402.2:c.437G>A, NM_001330402.1:c.437G>A, NM_001330408.2:c.125G>A, NM_001330408.1:c.125G>A, NM_001330401.2:c.437G>A, NM_001330401.1:c.437G>A, NM_001371737.1:c.431G>A, NM_001371738.1:c.374G>A, NM_001371739.1:c.368G>A, NM_001371740.1:c.437G>A, NM_001371741.1:c.437G>A, NM_001371742.1:c.437G>A, NM_001371743.1:c.437G>A, NP_653180.1:p.Cys146Tyr, NP_001317333.1:p.Cys42Tyr, NP_001317332.1:p.Cys127Tyr, NP_001317329.1:p.Cys146Tyr, NP_001317335.1:p.Cys127Tyr, NP_001317336.1:p.Cys42Tyr, NP_001317340.1:p.Val3Met, NP_001317334.1:p.Cys127Tyr, NP_001317339.1:p.Cys42Tyr, NP_001317341.1:p.Val3Met, NP_001317331.1:p.Cys146Tyr, NP_001317337.1:p.Cys42Tyr, NP_001317330.1:p.Cys146Tyr, NP_001358666.1:p.Cys144Tyr, NP_001358667.1:p.Cys125Tyr, NP_001358668.1:p.Cys123Tyr, NP_001358669.1:p.Cys146Tyr, NP_001358670.1:p.Cys146Tyr, NP_001358671.1:p.Cys146Tyr, NP_001358672.1:p.Cys146Tyr

                              15.

                              rs1457392626 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:73022545 (GRCh38)
                                2:73249674 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:73022544:A:G
                                Gene:
                                SFXN5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000002.12:g.73022545A>G, NC_000002.11:g.73249674A>G, NM_144579.3:c.308T>C, NM_144579.2:c.308T>C, NM_001330404.2:c.-5T>C, NM_001330404.1:c.-5T>C, NM_001330403.2:c.251T>C, NM_001330403.1:c.251T>C, NR_138476.2:n.371T>C, NR_138476.1:n.392T>C, NM_001330400.2:c.308T>C, NM_001330400.1:c.308T>C, NM_001330406.2:c.251T>C, NM_001330406.1:c.251T>C, NM_001330407.2:c.-5T>C, NM_001330407.1:c.-5T>C, NM_001330411.2:c.-123T>C, NM_001330411.1:c.-123T>C, NM_001330405.2:c.251T>C, NM_001330405.1:c.251T>C, NM_001330410.2:c.-5T>C, NM_001330410.1:c.-5T>C, NM_001330412.2:c.-123T>C, NM_001330412.1:c.-123T>C, NM_001330402.2:c.308T>C, NM_001330402.1:c.308T>C, NM_001330408.2:c.-5T>C, NM_001330408.1:c.-5T>C, NM_001330401.2:c.308T>C, NM_001330401.1:c.308T>C, NM_001371737.1:c.302T>C, NM_001371738.1:c.245T>C, NM_001371739.1:c.239T>C, NM_001371740.1:c.308T>C, NM_001371741.1:c.308T>C, NM_001371742.1:c.308T>C, NM_001371743.1:c.308T>C, NP_653180.1:p.Ile103Thr, NP_001317332.1:p.Ile84Thr, NP_001317329.1:p.Ile103Thr, NP_001317335.1:p.Ile84Thr, NP_001317334.1:p.Ile84Thr, NP_001317331.1:p.Ile103Thr, NP_001317330.1:p.Ile103Thr, NP_001358666.1:p.Ile101Thr, NP_001358667.1:p.Ile82Thr, NP_001358668.1:p.Ile80Thr, NP_001358669.1:p.Ile103Thr, NP_001358670.1:p.Ile103Thr, NP_001358671.1:p.Ile103Thr, NP_001358672.1:p.Ile103Thr

                                16.

                                rs1457250207 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  2:72998996 (GRCh38)
                                  2:73226125 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:72998995:A:T
                                  Gene:
                                  SFXN5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.72998996A>T, NC_000002.11:g.73226125A>T, NM_144579.3:c.487T>A, NM_144579.2:c.487T>A, NM_001330404.2:c.175T>A, NM_001330404.1:c.175T>A, NM_001330403.2:c.430T>A, NM_001330403.1:c.430T>A, NR_138476.2:n.550T>A, NR_138476.1:n.571T>A, NM_001330400.2:c.487T>A, NM_001330400.1:c.487T>A, NM_001330406.2:c.430T>A, NM_001330406.1:c.430T>A, NM_001330407.2:c.175T>A, NM_001330407.1:c.175T>A, NM_001330411.2:c.57T>A, NM_001330411.1:c.57T>A, NM_001330405.2:c.430T>A, NM_001330405.1:c.430T>A, NM_001330410.2:c.175T>A, NM_001330410.1:c.175T>A, NM_001330412.2:c.57T>A, NM_001330412.1:c.57T>A, NM_001330402.2:c.487T>A, NM_001330402.1:c.487T>A, NM_001330408.2:c.175T>A, NM_001330408.1:c.175T>A, NM_001330401.2:c.487T>A, NM_001330401.1:c.487T>A, NM_001371737.1:c.481T>A, NM_001371738.1:c.424T>A, NM_001371739.1:c.418T>A, NM_001371740.1:c.487T>A, NM_001371741.1:c.487T>A, NM_001371742.1:c.487T>A, NM_001371743.1:c.487T>A, NP_653180.1:p.Phe163Ile, NP_001317333.1:p.Phe59Ile, NP_001317332.1:p.Phe144Ile, NP_001317329.1:p.Phe163Ile, NP_001317335.1:p.Phe144Ile, NP_001317336.1:p.Phe59Ile, NP_001317340.1:p.Ser19Arg, NP_001317334.1:p.Phe144Ile, NP_001317339.1:p.Phe59Ile, NP_001317341.1:p.Ser19Arg, NP_001317331.1:p.Phe163Ile, NP_001317337.1:p.Phe59Ile, NP_001317330.1:p.Phe163Ile, NP_001358666.1:p.Phe161Ile, NP_001358667.1:p.Phe142Ile, NP_001358668.1:p.Phe140Ile, NP_001358669.1:p.Phe163Ile, NP_001358670.1:p.Phe163Ile, NP_001358671.1:p.Phe163Ile, NP_001358672.1:p.Phe163Ile

                                  17.

                                  rs1450207113 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    2:73000451 (GRCh38)
                                    2:73227580 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:73000450:C:A,NC_000002.12:73000450:C:T
                                    Gene:
                                    SFXN5 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.73000451C>A, NC_000002.12:g.73000451C>T, NC_000002.11:g.73227580C>A, NC_000002.11:g.73227580C>T, NM_144579.3:c.448G>T, NM_144579.3:c.448G>A, NM_144579.2:c.448G>T, NM_144579.2:c.448G>A, NM_001330404.2:c.136G>T, NM_001330404.2:c.136G>A, NM_001330404.1:c.136G>T, NM_001330404.1:c.136G>A, NM_001330403.2:c.391G>T, NM_001330403.2:c.391G>A, NM_001330403.1:c.391G>T, NM_001330403.1:c.391G>A, NR_138476.2:n.511G>T, NR_138476.2:n.511G>A, NR_138476.1:n.532G>T, NR_138476.1:n.532G>A, NM_001330400.2:c.448G>T, NM_001330400.2:c.448G>A, NM_001330400.1:c.448G>T, NM_001330400.1:c.448G>A, NM_001330406.2:c.391G>T, NM_001330406.2:c.391G>A, NM_001330406.1:c.391G>T, NM_001330406.1:c.391G>A, NM_001330407.2:c.136G>T, NM_001330407.2:c.136G>A, NM_001330407.1:c.136G>T, NM_001330407.1:c.136G>A, NM_001330411.2:c.18G>T, NM_001330411.2:c.18G>A, NM_001330411.1:c.18G>T, NM_001330411.1:c.18G>A, NM_001330405.2:c.391G>T, NM_001330405.2:c.391G>A, NM_001330405.1:c.391G>T, NM_001330405.1:c.391G>A, NM_001330410.2:c.136G>T, NM_001330410.2:c.136G>A, NM_001330410.1:c.136G>T, NM_001330410.1:c.136G>A, NM_001330412.2:c.18G>T, NM_001330412.2:c.18G>A, NM_001330412.1:c.18G>T, NM_001330412.1:c.18G>A, NM_001330402.2:c.448G>T, NM_001330402.2:c.448G>A, NM_001330402.1:c.448G>T, NM_001330402.1:c.448G>A, NM_001330408.2:c.136G>T, NM_001330408.2:c.136G>A, NM_001330408.1:c.136G>T, NM_001330408.1:c.136G>A, NM_001330401.2:c.448G>T, NM_001330401.2:c.448G>A, NM_001330401.1:c.448G>T, NM_001330401.1:c.448G>A, NM_001371737.1:c.442G>T, NM_001371737.1:c.442G>A, NM_001371738.1:c.385G>T, NM_001371738.1:c.385G>A, NM_001371739.1:c.379G>T, NM_001371739.1:c.379G>A, NM_001371740.1:c.448G>T, NM_001371740.1:c.448G>A, NM_001371741.1:c.448G>T, NM_001371741.1:c.448G>A, NM_001371742.1:c.448G>T, NM_001371742.1:c.448G>A, NM_001371743.1:c.448G>T, NM_001371743.1:c.448G>A, NP_653180.1:p.Ala150Ser, NP_653180.1:p.Ala150Thr, NP_001317333.1:p.Ala46Ser, NP_001317333.1:p.Ala46Thr, NP_001317332.1:p.Ala131Ser, NP_001317332.1:p.Ala131Thr, NP_001317329.1:p.Ala150Ser, NP_001317329.1:p.Ala150Thr, NP_001317335.1:p.Ala131Ser, NP_001317335.1:p.Ala131Thr, NP_001317336.1:p.Ala46Ser, NP_001317336.1:p.Ala46Thr, NP_001317340.1:p.Met6Ile, NP_001317340.1:p.Met6Ile, NP_001317334.1:p.Ala131Ser, NP_001317334.1:p.Ala131Thr, NP_001317339.1:p.Ala46Ser, NP_001317339.1:p.Ala46Thr, NP_001317341.1:p.Met6Ile, NP_001317341.1:p.Met6Ile, NP_001317331.1:p.Ala150Ser, NP_001317331.1:p.Ala150Thr, NP_001317337.1:p.Ala46Ser, NP_001317337.1:p.Ala46Thr, NP_001317330.1:p.Ala150Ser, NP_001317330.1:p.Ala150Thr, NP_001358666.1:p.Ala148Ser, NP_001358666.1:p.Ala148Thr, NP_001358667.1:p.Ala129Ser, NP_001358667.1:p.Ala129Thr, NP_001358668.1:p.Ala127Ser, NP_001358668.1:p.Ala127Thr, NP_001358669.1:p.Ala150Ser, NP_001358669.1:p.Ala150Thr, NP_001358670.1:p.Ala150Ser, NP_001358670.1:p.Ala150Thr, NP_001358671.1:p.Ala150Ser, NP_001358671.1:p.Ala150Thr, NP_001358672.1:p.Ala150Ser, NP_001358672.1:p.Ala150Thr

                                    18.

                                    rs1448858828 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:73058531 (GRCh38)
                                      2:73285660 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:73058530:A:G
                                      Gene:
                                      SFXN5 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.73058531A>G, NC_000002.11:g.73285660A>G, NM_144579.3:c.168T>C, NM_144579.2:c.168T>C, NM_001330404.2:c.-145T>C, NM_001330404.1:c.-145T>C, NM_001330403.2:c.56T>C, NM_001330403.1:c.56T>C, NR_138476.2:n.231T>C, NR_138476.1:n.252T>C, NM_001330400.2:c.168T>C, NM_001330400.1:c.168T>C, NM_001330406.2:c.56T>C, NM_001330406.1:c.56T>C, NM_001330407.2:c.-145T>C, NM_001330407.1:c.-145T>C, NM_001330411.2:c.-318T>C, NM_001330411.1:c.-318T>C, NM_001330405.2:c.56T>C, NM_001330405.1:c.56T>C, NM_001330410.2:c.-145T>C, NM_001330410.1:c.-145T>C, NM_001330412.2:c.-263T>C, NM_001330412.1:c.-263T>C, NM_001330402.2:c.168T>C, NM_001330402.1:c.168T>C, NM_001330408.2:c.-145T>C, NM_001330408.1:c.-145T>C, NM_001330401.2:c.168T>C, NM_001330401.1:c.168T>C, NM_001371737.1:c.107T>C, NM_001371738.1:c.107T>C, NM_001371740.1:c.168T>C, NM_001371741.1:c.168T>C, NM_001371742.1:c.168T>C, NM_001371743.1:c.168T>C, NP_001317332.1:p.Leu19Pro, NP_001317335.1:p.Leu19Pro, NP_001317334.1:p.Leu19Pro, NP_001358666.1:p.Leu36Pro, NP_001358667.1:p.Leu36Pro

                                      19.

                                      rs1448182800 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        2:72961239 (GRCh38)
                                        2:73188368 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:72961238:G:C,NC_000002.12:72961238:G:T
                                        Gene:
                                        SFXN5 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.72961239G>C, NC_000002.12:g.72961239G>T, NC_000002.11:g.73188368G>C, NC_000002.11:g.73188368G>T, NM_144579.3:c.837C>G, NM_144579.3:c.837C>A, NM_144579.2:c.837C>G, NM_144579.2:c.837C>A, NM_001330404.2:c.525C>G, NM_001330404.2:c.525C>A, NM_001330404.1:c.525C>G, NM_001330404.1:c.525C>A, NM_001330403.2:c.578C>G, NM_001330403.2:c.578C>A, NM_001330403.1:c.578C>G, NM_001330403.1:c.578C>A, NR_138476.2:n.987C>G, NR_138476.2:n.987C>A, NR_138476.1:n.1008C>G, NR_138476.1:n.1008C>A, NM_001330400.2:c.837C>G, NM_001330400.2:c.837C>A, NM_001330400.1:c.837C>G, NM_001330400.1:c.837C>A, NM_001330406.2:c.780C>G, NM_001330406.2:c.780C>A, NM_001330406.1:c.780C>G, NM_001330406.1:c.780C>A, NM_001330407.2:c.525C>G, NM_001330407.2:c.525C>A, NM_001330407.1:c.525C>G, NM_001330407.1:c.525C>A, NM_001330411.2:c.384C>G, NM_001330411.2:c.384C>A, NM_001330411.1:c.384C>G, NM_001330411.1:c.384C>A, NM_001330410.2:c.525C>G, NM_001330410.2:c.525C>A, NM_001330410.1:c.525C>G, NM_001330410.1:c.525C>A, NM_001330412.2:c.384C>G, NM_001330412.2:c.384C>A, NM_001330412.1:c.384C>G, NM_001330412.1:c.384C>A, NM_001330401.2:c.635C>G, NM_001330401.2:c.635C>A, NM_001330401.1:c.635C>G, NM_001330401.1:c.635C>A, NM_001371737.1:c.831C>G, NM_001371737.1:c.831C>A, NM_001371738.1:c.774C>G, NM_001371738.1:c.774C>A, NM_001371739.1:c.768C>G, NM_001371739.1:c.768C>A, NM_001371740.1:c.751C>G, NM_001371740.1:c.751C>A, NP_001317332.1:p.Ser193Cys, NP_001317332.1:p.Ser193Tyr, NP_001317330.1:p.Ser212Cys, NP_001317330.1:p.Ser212Tyr, NP_001358669.1:p.Pro251Ala, NP_001358669.1:p.Pro251Thr

                                        20.

                                        rs1446258321 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          2:73001557 (GRCh38)
                                          2:73228686 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:73001556:T:A
                                          Gene:
                                          SFXN5 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.73001557T>A, NC_000002.11:g.73228686T>A, NM_144579.3:c.379A>T, NM_144579.2:c.379A>T, NM_001330404.2:c.67A>T, NM_001330404.1:c.67A>T, NM_001330403.2:c.322A>T, NM_001330403.1:c.322A>T, NR_138476.2:n.442A>T, NR_138476.1:n.463A>T, NM_001330400.2:c.379A>T, NM_001330400.1:c.379A>T, NM_001330406.2:c.322A>T, NM_001330406.1:c.322A>T, NM_001330407.2:c.67A>T, NM_001330407.1:c.67A>T, NM_001330411.2:c.-52A>T, NM_001330411.1:c.-52A>T, NM_001330405.2:c.322A>T, NM_001330405.1:c.322A>T, NM_001330410.2:c.67A>T, NM_001330410.1:c.67A>T, NM_001330412.2:c.-52A>T, NM_001330412.1:c.-52A>T, NM_001330402.2:c.379A>T, NM_001330402.1:c.379A>T, NM_001330408.2:c.67A>T, NM_001330408.1:c.67A>T, NM_001330401.2:c.379A>T, NM_001330401.1:c.379A>T, NM_001371737.1:c.373A>T, NM_001371738.1:c.316A>T, NM_001371739.1:c.310A>T, NM_001371740.1:c.379A>T, NM_001371741.1:c.379A>T, NM_001371742.1:c.379A>T, NM_001371743.1:c.379A>T, NP_653180.1:p.Asn127Tyr, NP_001317333.1:p.Asn23Tyr, NP_001317332.1:p.Asn108Tyr, NP_001317329.1:p.Asn127Tyr, NP_001317335.1:p.Asn108Tyr, NP_001317336.1:p.Asn23Tyr, NP_001317334.1:p.Asn108Tyr, NP_001317339.1:p.Asn23Tyr, NP_001317331.1:p.Asn127Tyr, NP_001317337.1:p.Asn23Tyr, NP_001317330.1:p.Asn127Tyr, NP_001358666.1:p.Asn125Tyr, NP_001358667.1:p.Asn106Tyr, NP_001358668.1:p.Asn104Tyr, NP_001358669.1:p.Asn127Tyr, NP_001358670.1:p.Asn127Tyr, NP_001358671.1:p.Asn127Tyr, NP_001358672.1:p.Asn127Tyr

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