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Items: 1 to 20 of 594

1.

rs1488352364 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:227332476 (GRCh38)
    2:228197192 (GRCh37)
    Canonical SPDI:
    NC_000002.12:227332475:C:T
    Gene:
    MFF (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.227332476C>T, NC_000002.11:g.228197192C>T, NG_033153.1:g.12326C>T, NM_020194.5:c.317C>T, NM_001277061.2:c.317C>T, NM_001277061.1:c.317C>T, NM_001277062.2:c.239C>T, NM_001277062.1:c.239C>T, NM_001277063.2:c.239C>T, NM_001277063.1:c.239C>T, NM_001277064.2:c.239C>T, NM_001277064.1:c.239C>T, NM_001277065.2:c.239C>T, NM_001277065.1:c.239C>T, NM_001277066.2:c.239C>T, NM_001277066.1:c.239C>T, NR_102266.2:n.235C>T, NR_102266.1:n.335C>T, NM_001277067.1:c.89C>T, NM_001277068.1:c.239C>T, XM_006712637.3:c.239C>T, XM_006712637.2:c.239C>T, XM_006712637.1:c.239C>T, XM_017004512.2:c.317C>T, XM_017004512.1:c.317C>T, XM_011511500.2:c.317C>T, XM_011511500.1:c.317C>T, XM_024453009.2:c.317C>T, XM_024453009.1:c.317C>T, XM_047445127.1:c.317C>T, XM_047445128.1:c.317C>T, XM_047445131.1:c.317C>T, XM_047445132.1:c.317C>T, XM_047445129.1:c.239C>T, XM_047445133.1:c.317C>T, XM_047445130.1:c.239C>T, NP_064579.3:p.Thr106Ile, NP_001263990.1:p.Thr106Ile, NP_001263991.1:p.Thr80Ile, NP_001263992.1:p.Thr80Ile, NP_001263993.1:p.Thr80Ile, NP_001263994.1:p.Thr80Ile, NP_001263995.1:p.Thr80Ile, NP_001263996.1:p.Thr30Ile, NP_001263997.1:p.Thr80Ile, XP_006712700.1:p.Thr80Ile, XP_016860001.1:p.Thr106Ile, XP_011509802.1:p.Thr106Ile, XP_024308777.1:p.Thr106Ile, XP_047301083.1:p.Thr106Ile, XP_047301084.1:p.Thr106Ile, XP_047301087.1:p.Thr106Ile, XP_047301088.1:p.Thr106Ile, XP_047301085.1:p.Thr80Ile, XP_047301089.1:p.Thr106Ile, XP_047301086.1:p.Thr80Ile

    2.

    rs1487245628 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      2:227330803 (GRCh38)
      2:228195519 (GRCh37)
      Canonical SPDI:
      NC_000002.12:227330802:T:G
      Gene:
      MFF (Varview)
      Functional Consequence:
      intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.227330803T>G, NC_000002.11:g.228195519T>G, NG_033153.1:g.10653T>G, NM_020194.5:c.216T>G, NM_001277061.2:c.216T>G, NM_001277061.1:c.216T>G, NM_001277062.2:c.138T>G, NM_001277062.1:c.138T>G, NM_001277063.2:c.138T>G, NM_001277063.1:c.138T>G, NM_001277064.2:c.138T>G, NM_001277064.1:c.138T>G, NM_001277065.2:c.138T>G, NM_001277065.1:c.138T>G, NM_001277066.2:c.138T>G, NM_001277066.1:c.138T>G, NM_001277067.1:c.-13T>G, NM_001277068.1:c.138T>G, XM_006712637.3:c.138T>G, XM_006712637.2:c.138T>G, XM_006712637.1:c.138T>G, XM_017004512.2:c.216T>G, XM_017004512.1:c.216T>G, XM_011511500.2:c.216T>G, XM_011511500.1:c.216T>G, XM_024453009.2:c.216T>G, XM_024453009.1:c.216T>G, XM_047445127.1:c.216T>G, XM_047445128.1:c.216T>G, XM_047445131.1:c.216T>G, XM_047445132.1:c.216T>G, XM_047445129.1:c.138T>G, XM_047445133.1:c.216T>G, XM_047445130.1:c.138T>G, NP_064579.3:p.Asn72Lys, NP_001263990.1:p.Asn72Lys, NP_001263991.1:p.Asn46Lys, NP_001263992.1:p.Asn46Lys, NP_001263993.1:p.Asn46Lys, NP_001263994.1:p.Asn46Lys, NP_001263995.1:p.Asn46Lys, NP_001263997.1:p.Asn46Lys, XP_006712700.1:p.Asn46Lys, XP_016860001.1:p.Asn72Lys, XP_011509802.1:p.Asn72Lys, XP_024308777.1:p.Asn72Lys, XP_047301083.1:p.Asn72Lys, XP_047301084.1:p.Asn72Lys, XP_047301087.1:p.Asn72Lys, XP_047301088.1:p.Asn72Lys, XP_047301085.1:p.Asn46Lys, XP_047301089.1:p.Asn72Lys, XP_047301086.1:p.Asn46Lys

      3.

      rs1482859821 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        2:227342791 (GRCh38)
        2:228207508 (GRCh37)
        Canonical SPDI:
        NC_000002.12:227342791:A:AA
        Gene:
        MFF (Varview)
        Functional Consequence:
        intron_variant,frameshift_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        AA=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:

        4.

        rs1480417868 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          2:227352527 (GRCh38)
          2:228217243 (GRCh37)
          Canonical SPDI:
          NC_000002.12:227352526:G:T
          Gene:
          MFF (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000002.12:g.227352527G>T, NC_000002.11:g.228217243G>T, NG_033153.1:g.32377G>T, NM_020194.5:c.766G>T, NM_001277061.2:c.766G>T, NM_001277061.1:c.766G>T, NM_001277062.2:c.613G>T, NM_001277062.1:c.613G>T, NM_001277064.2:c.454G>T, NM_001277064.1:c.454G>T, NM_001277068.1:c.496G>T, XM_006712637.3:c.688G>T, XM_006712637.2:c.688G>T, XM_006712637.1:c.688G>T, XM_017004512.2:c.691G>T, XM_017004512.1:c.691G>T, XM_011511500.2:c.766G>T, XM_011511500.1:c.766G>T, XM_024453009.2:c.607G>T, XM_024453009.1:c.607G>T, XM_047445132.1:c.532G>T, NP_064579.3:p.Gly256Cys, NP_001263990.1:p.Gly256Cys, NP_001263991.1:p.Gly205Cys, NP_001263993.1:p.Gly152Cys, NP_001263997.1:p.Gly166Cys, XP_006712700.1:p.Gly230Cys, XP_016860001.1:p.Gly231Cys, XP_011509802.1:p.Gly256Cys, XP_024308777.1:p.Gly203Cys, XP_047301088.1:p.Gly178Cys

          5.

          rs1479861445 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            2:227347377 (GRCh38)
            2:228212093 (GRCh37)
            Canonical SPDI:
            NC_000002.12:227347376:A:C
            Gene:
            MFF (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.227347377A>C, NC_000002.11:g.228212093A>C, NG_033153.1:g.27227A>C, NM_020194.5:c.745A>C, NM_001277061.2:c.745A>C, NM_001277061.1:c.745A>C, NM_001277062.2:c.592A>C, NM_001277062.1:c.592A>C, NM_001277067.1:c.442A>C, NM_001277068.1:c.475A>C, XM_006712637.3:c.667A>C, XM_006712637.2:c.667A>C, XM_006712637.1:c.667A>C, XM_017004512.2:c.670A>C, XM_017004512.1:c.670A>C, XM_011511500.2:c.745A>C, XM_011511500.1:c.745A>C, XM_047445127.1:c.745A>C, XM_047445128.1:c.670A>C, XM_047445129.1:c.667A>C, XM_047445130.1:c.592A>C, NP_064579.3:p.Asn249His, NP_001263990.1:p.Asn249His, NP_001263991.1:p.Asn198His, NP_001263996.1:p.Asn148His, NP_001263997.1:p.Asn159His, XP_006712700.1:p.Asn223His, XP_016860001.1:p.Asn224His, XP_011509802.1:p.Asn249His, XP_047301083.1:p.Asn249His, XP_047301084.1:p.Asn224His, XP_047301085.1:p.Asn223His, XP_047301086.1:p.Asn198His

            6.

            rs1479457195 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:227328686 (GRCh38)
              2:228193402 (GRCh37)
              Canonical SPDI:
              NC_000002.12:227328685:G:A
              Gene:
              MFF (Varview)
              Functional Consequence:
              5_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000021/3 (GnomAD)
              HGVS:

              7.

              rs1478828750 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                2:227329675 (GRCh38)
                2:228194391 (GRCh37)
                Canonical SPDI:
                NC_000002.12:227329674:T:A,NC_000002.12:227329674:T:C
                Gene:
                MFF (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                NC_000002.12:g.227329675T>A, NC_000002.12:g.227329675T>C, NC_000002.11:g.228194391T>A, NC_000002.11:g.228194391T>C, NG_033153.1:g.9525T>A, NG_033153.1:g.9525T>C, NM_020194.5:c.-71T>A, NM_020194.5:c.-71T>C, NM_001277061.2:c.-71T>A, NM_001277061.2:c.-71T>C, NM_001277061.1:c.-71T>A, NM_001277061.1:c.-71T>C, NM_001277067.1:c.-144T>A, NM_001277067.1:c.-144T>C, XM_017004512.2:c.-71T>A, XM_017004512.2:c.-71T>C, XM_017004512.1:c.-71T>A, XM_017004512.1:c.-71T>C, XM_011511500.2:c.-71T>A, XM_011511500.2:c.-71T>C, XM_011511500.1:c.-71T>A, XM_011511500.1:c.-71T>C, XM_024453009.2:c.-71T>A, XM_024453009.2:c.-71T>C, XM_024453009.1:c.-71T>A, XM_024453009.1:c.-71T>C, XM_047445127.1:c.-71T>A, XM_047445127.1:c.-71T>C, XM_047445128.1:c.-71T>A, XM_047445128.1:c.-71T>C, XM_047445131.1:c.-71T>A, XM_047445131.1:c.-71T>C, XM_047445132.1:c.-71T>A, XM_047445132.1:c.-71T>C, XM_047445133.1:c.-71T>A, XM_047445133.1:c.-71T>C

                8.

                rs1474590818 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  2:227330819 (GRCh38)
                  2:228195535 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:227330818:C:A
                  Gene:
                  MFF (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000002.12:g.227330819C>A, NC_000002.11:g.228195535C>A, NG_033153.1:g.10669C>A, NM_020194.5:c.232C>A, NM_001277061.2:c.232C>A, NM_001277061.1:c.232C>A, NM_001277062.2:c.154C>A, NM_001277062.1:c.154C>A, NM_001277063.2:c.154C>A, NM_001277063.1:c.154C>A, NM_001277064.2:c.154C>A, NM_001277064.1:c.154C>A, NM_001277065.2:c.154C>A, NM_001277065.1:c.154C>A, NM_001277066.2:c.154C>A, NM_001277066.1:c.154C>A, NM_001277067.1:c.4C>A, NM_001277068.1:c.154C>A, XM_006712637.3:c.154C>A, XM_006712637.2:c.154C>A, XM_006712637.1:c.154C>A, XM_017004512.2:c.232C>A, XM_017004512.1:c.232C>A, XM_011511500.2:c.232C>A, XM_011511500.1:c.232C>A, XM_024453009.2:c.232C>A, XM_024453009.1:c.232C>A, XM_047445127.1:c.232C>A, XM_047445128.1:c.232C>A, XM_047445131.1:c.232C>A, XM_047445132.1:c.232C>A, XM_047445129.1:c.154C>A, XM_047445133.1:c.232C>A, XM_047445130.1:c.154C>A, NP_064579.3:p.Gln78Lys, NP_001263990.1:p.Gln78Lys, NP_001263991.1:p.Gln52Lys, NP_001263992.1:p.Gln52Lys, NP_001263993.1:p.Gln52Lys, NP_001263994.1:p.Gln52Lys, NP_001263995.1:p.Gln52Lys, NP_001263996.1:p.Gln2Lys, NP_001263997.1:p.Gln52Lys, XP_006712700.1:p.Gln52Lys, XP_016860001.1:p.Gln78Lys, XP_011509802.1:p.Gln78Lys, XP_024308777.1:p.Gln78Lys, XP_047301083.1:p.Gln78Lys, XP_047301084.1:p.Gln78Lys, XP_047301087.1:p.Gln78Lys, XP_047301088.1:p.Gln78Lys, XP_047301085.1:p.Gln52Lys, XP_047301089.1:p.Gln78Lys, XP_047301086.1:p.Gln52Lys

                  9.

                  rs1473045228 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    2:227357557 (GRCh38)
                    2:228222273 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:227357556:C:G,NC_000002.12:227357556:C:T
                    Gene:
                    MFF (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000002.12:g.227357557C>G, NC_000002.12:g.227357557C>T, NC_000002.11:g.228222273C>G, NC_000002.11:g.228222273C>T, NG_033153.1:g.37407C>G, NG_033153.1:g.37407C>T, NM_020194.5:c.*440C>G, NM_020194.5:c.*440C>T, NM_001277061.2:c.*440C>G, NM_001277061.2:c.*440C>T, NM_001277061.1:c.*440C>G, NM_001277061.1:c.*440C>T, NM_001277062.2:c.*440C>G, NM_001277062.2:c.*440C>T, NM_001277062.1:c.*440C>G, NM_001277062.1:c.*440C>T, NM_001277063.2:c.*440C>G, NM_001277063.2:c.*440C>T, NM_001277063.1:c.*440C>G, NM_001277063.1:c.*440C>T, NM_001277064.2:c.*440C>G, NM_001277064.2:c.*440C>T, NM_001277064.1:c.*440C>G, NM_001277064.1:c.*440C>T, NM_001277065.2:c.*440C>G, NM_001277065.2:c.*440C>T, NM_001277065.1:c.*440C>G, NM_001277065.1:c.*440C>T, NM_001277066.2:c.*440C>G, NM_001277066.2:c.*440C>T, NM_001277066.1:c.*440C>G, NM_001277066.1:c.*440C>T, NR_102266.2:n.1093C>G, NR_102266.2:n.1093C>T, NR_102266.1:n.1193C>G, NR_102266.1:n.1193C>T, NM_001277067.1:c.*440C>G, NM_001277067.1:c.*440C>T, NM_001277068.1:c.*440C>G, NM_001277068.1:c.*440C>T, XM_006712637.3:c.*440C>G, XM_006712637.3:c.*440C>T, XM_006712637.2:c.*440C>G, XM_006712637.2:c.*440C>T, XM_006712637.1:c.*440C>G, XM_006712637.1:c.*440C>T, XM_017004512.2:c.*440C>G, XM_017004512.2:c.*440C>T, XM_017004512.1:c.*440C>G, XM_017004512.1:c.*440C>T, XM_011511500.2:c.*440C>G, XM_011511500.2:c.*440C>T, XM_011511500.1:c.*440C>G, XM_011511500.1:c.*440C>T, XM_024453009.2:c.*440C>G, XM_024453009.2:c.*440C>T, XM_024453009.1:c.*440C>G, XM_024453009.1:c.*440C>T, XM_047445127.1:c.*440C>G, XM_047445127.1:c.*440C>T, XM_047445128.1:c.*440C>G, XM_047445128.1:c.*440C>T, XM_047445131.1:c.*440C>G, XM_047445131.1:c.*440C>T, XM_047445132.1:c.*440C>G, XM_047445132.1:c.*440C>T, XM_047445129.1:c.*440C>G, XM_047445129.1:c.*440C>T, XM_047445133.1:c.*440C>G, XM_047445133.1:c.*440C>T, XM_047445130.1:c.*440C>G, XM_047445130.1:c.*440C>T

                    10.

                    rs1471245133 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:227357335 (GRCh38)
                      2:228222051 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:227357334:A:G
                      Gene:
                      MFF (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.227357335A>G, NC_000002.11:g.228222051A>G, NG_033153.1:g.37185A>G, NM_020194.5:c.*218A>G, NM_001277061.2:c.*218A>G, NM_001277061.1:c.*218A>G, NM_001277062.2:c.*218A>G, NM_001277062.1:c.*218A>G, NM_001277063.2:c.*218A>G, NM_001277063.1:c.*218A>G, NM_001277064.2:c.*218A>G, NM_001277064.1:c.*218A>G, NM_001277065.2:c.*218A>G, NM_001277065.1:c.*218A>G, NM_001277066.2:c.*218A>G, NM_001277066.1:c.*218A>G, NR_102266.2:n.871A>G, NR_102266.1:n.971A>G, NM_001277067.1:c.*218A>G, NM_001277068.1:c.*218A>G, XM_006712637.3:c.*218A>G, XM_006712637.2:c.*218A>G, XM_006712637.1:c.*218A>G, XM_017004512.2:c.*218A>G, XM_017004512.1:c.*218A>G, XM_011511500.2:c.*218A>G, XM_011511500.1:c.*218A>G, XM_024453009.2:c.*218A>G, XM_024453009.1:c.*218A>G, XM_047445127.1:c.*218A>G, XM_047445128.1:c.*218A>G, XM_047445131.1:c.*218A>G, XM_047445132.1:c.*218A>G, XM_047445129.1:c.*218A>G, XM_047445133.1:c.*218A>G, XM_047445130.1:c.*218A>G

                      11.

                      rs1470732099 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        2:227355700 (GRCh38)
                        2:228220416 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:227355699:C:A,NC_000002.12:227355699:C:T
                        Gene:
                        MFF (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000028/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.227355700C>A, NC_000002.12:g.227355700C>T, NC_000002.11:g.228220416C>A, NC_000002.11:g.228220416C>T, NG_033153.1:g.35550C>A, NG_033153.1:g.35550C>T, NM_020194.5:c.836C>A, NM_020194.5:c.836C>T, NM_001277061.2:c.836C>A, NM_001277061.2:c.836C>T, NM_001277061.1:c.836C>A, NM_001277061.1:c.836C>T, NM_001277062.2:c.683C>A, NM_001277062.2:c.683C>T, NM_001277062.1:c.683C>A, NM_001277062.1:c.683C>T, NM_001277063.2:c.539C>A, NM_001277063.2:c.539C>T, NM_001277063.1:c.539C>A, NM_001277063.1:c.539C>T, NM_001277064.2:c.524C>A, NM_001277064.2:c.524C>T, NM_001277064.1:c.524C>A, NM_001277064.1:c.524C>T, NM_001277065.2:c.464C>A, NM_001277065.2:c.464C>T, NM_001277065.1:c.464C>A, NM_001277065.1:c.464C>T, NM_001277066.2:c.464C>A, NM_001277066.2:c.464C>T, NM_001277066.1:c.464C>A, NM_001277066.1:c.464C>T, NR_102266.2:n.460C>A, NR_102266.2:n.460C>T, NR_102266.1:n.560C>A, NR_102266.1:n.560C>T, NM_001277067.1:c.473C>A, NM_001277067.1:c.473C>T, NM_001277068.1:c.566C>A, NM_001277068.1:c.566C>T, XM_006712637.3:c.758C>A, XM_006712637.3:c.758C>T, XM_006712637.2:c.758C>A, XM_006712637.2:c.758C>T, XM_006712637.1:c.758C>A, XM_006712637.1:c.758C>T, XM_017004512.2:c.761C>A, XM_017004512.2:c.761C>T, XM_017004512.1:c.761C>A, XM_017004512.1:c.761C>T, XM_011511500.2:c.836C>A, XM_011511500.2:c.836C>T, XM_011511500.1:c.836C>A, XM_011511500.1:c.836C>T, XM_024453009.2:c.677C>A, XM_024453009.2:c.677C>T, XM_024453009.1:c.677C>A, XM_024453009.1:c.677C>T, XM_047445127.1:c.776C>A, XM_047445127.1:c.776C>T, XM_047445128.1:c.701C>A, XM_047445128.1:c.701C>T, XM_047445131.1:c.617C>A, XM_047445131.1:c.617C>T, XM_047445132.1:c.602C>A, XM_047445132.1:c.602C>T, XM_047445129.1:c.698C>A, XM_047445129.1:c.698C>T, XM_047445133.1:c.542C>A, XM_047445133.1:c.542C>T, XM_047445130.1:c.623C>A, XM_047445130.1:c.623C>T, NP_064579.3:p.Thr279Lys, NP_064579.3:p.Thr279Ile, NP_001263990.1:p.Thr279Lys, NP_001263990.1:p.Thr279Ile, NP_001263991.1:p.Thr228Lys, NP_001263991.1:p.Thr228Ile, NP_001263992.1:p.Thr180Lys, NP_001263992.1:p.Thr180Ile, NP_001263993.1:p.Thr175Lys, NP_001263993.1:p.Thr175Ile, NP_001263994.1:p.Thr155Lys, NP_001263994.1:p.Thr155Ile, NP_001263995.1:p.Thr155Lys, NP_001263995.1:p.Thr155Ile, NP_001263996.1:p.Thr158Lys, NP_001263996.1:p.Thr158Ile, NP_001263997.1:p.Thr189Lys, NP_001263997.1:p.Thr189Ile, XP_006712700.1:p.Thr253Lys, XP_006712700.1:p.Thr253Ile, XP_016860001.1:p.Thr254Lys, XP_016860001.1:p.Thr254Ile, XP_011509802.1:p.Thr279Lys, XP_011509802.1:p.Thr279Ile, XP_024308777.1:p.Thr226Lys, XP_024308777.1:p.Thr226Ile, XP_047301083.1:p.Thr259Lys, XP_047301083.1:p.Thr259Ile, XP_047301084.1:p.Thr234Lys, XP_047301084.1:p.Thr234Ile, XP_047301087.1:p.Thr206Lys, XP_047301087.1:p.Thr206Ile, XP_047301088.1:p.Thr201Lys, XP_047301088.1:p.Thr201Ile, XP_047301085.1:p.Thr233Lys, XP_047301085.1:p.Thr233Ile, XP_047301089.1:p.Thr181Lys, XP_047301089.1:p.Thr181Ile, XP_047301086.1:p.Thr208Lys, XP_047301086.1:p.Thr208Ile

                        12.

                        rs1468318198 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:227328721 (GRCh38)
                          2:228193437 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:227328720:G:A
                          Gene:
                          MFF (Varview)
                          Functional Consequence:
                          intron_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:

                          13.

                          rs1466633645 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            2:227357191 (GRCh38)
                            2:228221907 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:227357190:G:C
                            Gene:
                            MFF (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000019/5 (TOPMED)
                            HGVS:
                            NC_000002.12:g.227357191G>C, NC_000002.11:g.228221907G>C, NG_033153.1:g.37041G>C, NM_020194.5:c.*74G>C, NM_001277061.2:c.*74G>C, NM_001277061.1:c.*74G>C, NM_001277062.2:c.*74G>C, NM_001277062.1:c.*74G>C, NM_001277063.2:c.*74G>C, NM_001277063.1:c.*74G>C, NM_001277064.2:c.*74G>C, NM_001277064.1:c.*74G>C, NM_001277065.2:c.*74G>C, NM_001277065.1:c.*74G>C, NM_001277066.2:c.*74G>C, NM_001277066.1:c.*74G>C, NR_102266.2:n.727G>C, NR_102266.1:n.827G>C, NM_001277067.1:c.*74G>C, NM_001277068.1:c.*74G>C, XM_006712637.3:c.*74G>C, XM_006712637.2:c.*74G>C, XM_006712637.1:c.*74G>C, XM_017004512.2:c.*74G>C, XM_017004512.1:c.*74G>C, XM_011511500.2:c.*74G>C, XM_011511500.1:c.*74G>C, XM_024453009.2:c.*74G>C, XM_024453009.1:c.*74G>C, XM_047445127.1:c.*74G>C, XM_047445128.1:c.*74G>C, XM_047445131.1:c.*74G>C, XM_047445132.1:c.*74G>C, XM_047445129.1:c.*74G>C, XM_047445133.1:c.*74G>C, XM_047445130.1:c.*74G>C

                            14.

                            rs1466615368 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:227332439 (GRCh38)
                              2:228197155 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:227332438:T:C
                              Gene:
                              MFF (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              NC_000002.12:g.227332439T>C, NC_000002.11:g.228197155T>C, NG_033153.1:g.12289T>C, NM_020194.5:c.280T>C, NM_001277061.2:c.280T>C, NM_001277061.1:c.280T>C, NM_001277062.2:c.202T>C, NM_001277062.1:c.202T>C, NM_001277063.2:c.202T>C, NM_001277063.1:c.202T>C, NM_001277064.2:c.202T>C, NM_001277064.1:c.202T>C, NM_001277065.2:c.202T>C, NM_001277065.1:c.202T>C, NM_001277066.2:c.202T>C, NM_001277066.1:c.202T>C, NR_102266.2:n.198T>C, NR_102266.1:n.298T>C, NM_001277067.1:c.52T>C, NM_001277068.1:c.202T>C, XM_006712637.3:c.202T>C, XM_006712637.2:c.202T>C, XM_006712637.1:c.202T>C, XM_017004512.2:c.280T>C, XM_017004512.1:c.280T>C, XM_011511500.2:c.280T>C, XM_011511500.1:c.280T>C, XM_024453009.2:c.280T>C, XM_024453009.1:c.280T>C, XM_047445127.1:c.280T>C, XM_047445128.1:c.280T>C, XM_047445131.1:c.280T>C, XM_047445132.1:c.280T>C, XM_047445129.1:c.202T>C, XM_047445133.1:c.280T>C, XM_047445130.1:c.202T>C, NP_064579.3:p.Phe94Leu, NP_001263990.1:p.Phe94Leu, NP_001263991.1:p.Phe68Leu, NP_001263992.1:p.Phe68Leu, NP_001263993.1:p.Phe68Leu, NP_001263994.1:p.Phe68Leu, NP_001263995.1:p.Phe68Leu, NP_001263996.1:p.Phe18Leu, NP_001263997.1:p.Phe68Leu, XP_006712700.1:p.Phe68Leu, XP_016860001.1:p.Phe94Leu, XP_011509802.1:p.Phe94Leu, XP_024308777.1:p.Phe94Leu, XP_047301083.1:p.Phe94Leu, XP_047301084.1:p.Phe94Leu, XP_047301087.1:p.Phe94Leu, XP_047301088.1:p.Phe94Leu, XP_047301085.1:p.Phe68Leu, XP_047301089.1:p.Phe94Leu, XP_047301086.1:p.Phe68Leu

                              15.

                              rs1464860360 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:227329640 (GRCh38)
                                2:228194356 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:227329639:T:C
                                Gene:
                                MFF (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1464383008 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:227357597 (GRCh38)
                                  2:228222313 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:227357596:A:G
                                  Gene:
                                  MFF (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.227357597A>G, NC_000002.11:g.228222313A>G, NG_033153.1:g.37447A>G, NM_020194.5:c.*480A>G, NM_001277061.2:c.*480A>G, NM_001277061.1:c.*480A>G, NM_001277062.2:c.*480A>G, NM_001277062.1:c.*480A>G, NM_001277063.2:c.*480A>G, NM_001277063.1:c.*480A>G, NM_001277064.2:c.*480A>G, NM_001277064.1:c.*480A>G, NM_001277065.2:c.*480A>G, NM_001277065.1:c.*480A>G, NM_001277066.2:c.*480A>G, NM_001277066.1:c.*480A>G, NR_102266.2:n.1133A>G, NR_102266.1:n.1233A>G, NM_001277067.1:c.*480A>G, NM_001277068.1:c.*480A>G, XM_006712637.3:c.*480A>G, XM_006712637.2:c.*480A>G, XM_006712637.1:c.*480A>G, XM_017004512.2:c.*480A>G, XM_017004512.1:c.*480A>G, XM_011511500.2:c.*480A>G, XM_011511500.1:c.*480A>G, XM_024453009.2:c.*480A>G, XM_024453009.1:c.*480A>G, XM_047445127.1:c.*480A>G, XM_047445128.1:c.*480A>G, XM_047445131.1:c.*480A>G, XM_047445132.1:c.*480A>G, XM_047445129.1:c.*480A>G, XM_047445133.1:c.*480A>G, XM_047445130.1:c.*480A>G

                                  17.

                                  rs1463605772 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    2:227330697 (GRCh38)
                                    2:228195413 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:227330696:T:A
                                    Gene:
                                    MFF (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000094/2 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.227330697T>A, NC_000002.11:g.228195413T>A, NG_033153.1:g.10547T>A, NM_020194.5:c.110T>A, NM_001277061.2:c.110T>A, NM_001277061.1:c.110T>A, NM_001277062.2:c.32T>A, NM_001277062.1:c.32T>A, NM_001277063.2:c.32T>A, NM_001277063.1:c.32T>A, NM_001277064.2:c.32T>A, NM_001277064.1:c.32T>A, NM_001277065.2:c.32T>A, NM_001277065.1:c.32T>A, NM_001277066.2:c.32T>A, NM_001277066.1:c.32T>A, NM_001277068.1:c.32T>A, XM_006712637.3:c.32T>A, XM_006712637.2:c.32T>A, XM_006712637.1:c.32T>A, XM_017004512.2:c.110T>A, XM_017004512.1:c.110T>A, XM_011511500.2:c.110T>A, XM_011511500.1:c.110T>A, XM_024453009.2:c.110T>A, XM_024453009.1:c.110T>A, XM_047445127.1:c.110T>A, XM_047445128.1:c.110T>A, XM_047445131.1:c.110T>A, XM_047445132.1:c.110T>A, XM_047445129.1:c.32T>A, XM_047445133.1:c.110T>A, XM_047445130.1:c.32T>A, NP_064579.3:p.Met37Lys, NP_001263990.1:p.Met37Lys, NP_001263991.1:p.Met11Lys, NP_001263992.1:p.Met11Lys, NP_001263993.1:p.Met11Lys, NP_001263994.1:p.Met11Lys, NP_001263995.1:p.Met11Lys, NP_001263997.1:p.Met11Lys, XP_006712700.1:p.Met11Lys, XP_016860001.1:p.Met37Lys, XP_011509802.1:p.Met37Lys, XP_024308777.1:p.Met37Lys, XP_047301083.1:p.Met37Lys, XP_047301084.1:p.Met37Lys, XP_047301087.1:p.Met37Lys, XP_047301088.1:p.Met37Lys, XP_047301085.1:p.Met11Lys, XP_047301089.1:p.Met37Lys, XP_047301086.1:p.Met11Lys

                                    18.

                                    rs1462880685 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:227357164 (GRCh38)
                                      2:228221880 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:227357163:A:G
                                      Gene:
                                      MFF (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000009/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.227357164A>G, NC_000002.11:g.228221880A>G, NG_033153.1:g.37014A>G, NM_020194.5:c.*47A>G, NM_001277061.2:c.*47A>G, NM_001277061.1:c.*47A>G, NM_001277062.2:c.*47A>G, NM_001277062.1:c.*47A>G, NM_001277063.2:c.*47A>G, NM_001277063.1:c.*47A>G, NM_001277064.2:c.*47A>G, NM_001277064.1:c.*47A>G, NM_001277065.2:c.*47A>G, NM_001277065.1:c.*47A>G, NM_001277066.2:c.*47A>G, NM_001277066.1:c.*47A>G, NR_102266.2:n.700A>G, NR_102266.1:n.800A>G, NM_001277067.1:c.*47A>G, NM_001277068.1:c.*47A>G, XM_006712637.3:c.*47A>G, XM_006712637.2:c.*47A>G, XM_006712637.1:c.*47A>G, XM_017004512.2:c.*47A>G, XM_017004512.1:c.*47A>G, XM_011511500.2:c.*47A>G, XM_011511500.1:c.*47A>G, XM_024453009.2:c.*47A>G, XM_024453009.1:c.*47A>G, XM_047445127.1:c.*47A>G, XM_047445128.1:c.*47A>G, XM_047445131.1:c.*47A>G, XM_047445132.1:c.*47A>G, XM_047445129.1:c.*47A>G, XM_047445133.1:c.*47A>G, XM_047445130.1:c.*47A>G

                                      19.

                                      rs1462157875 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        2:227357711 (GRCh38)
                                        2:228222427 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:227357710:C:
                                        Gene:
                                        MFF (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000011/3 (TOPMED)
                                        -=0.000021/3 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.227357711del, NC_000002.11:g.228222427del, NG_033153.1:g.37561del, NM_020194.5:c.*594del, NM_001277061.2:c.*594del, NM_001277061.1:c.*594del, NM_001277062.2:c.*594del, NM_001277062.1:c.*594del, NM_001277063.2:c.*594del, NM_001277063.1:c.*594del, NM_001277064.2:c.*594del, NM_001277064.1:c.*594del, NM_001277065.2:c.*594del, NM_001277065.1:c.*594del, NM_001277066.2:c.*594del, NM_001277066.1:c.*594del, NR_102266.2:n.1247del, NR_102266.1:n.1347del, NM_001277067.1:c.*594del, NM_001277068.1:c.*594del, XM_006712637.3:c.*594del, XM_006712637.2:c.*594del, XM_006712637.1:c.*594del, XM_017004512.2:c.*594del, XM_017004512.1:c.*594del, XM_011511500.2:c.*594del, XM_011511500.1:c.*594del, XM_024453009.2:c.*594del, XM_024453009.1:c.*594del, XM_047445127.1:c.*594del, XM_047445128.1:c.*594del, XM_047445131.1:c.*594del, XM_047445132.1:c.*594del, XM_047445129.1:c.*594del, XM_047445133.1:c.*594del, XM_047445130.1:c.*594del

                                        20.

                                        rs1461106116 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          2:227328745 (GRCh38)
                                          2:228193461 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:227328744:A:C
                                          Gene:
                                          MFF (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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