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Items: 1 to 20 of 780

1.

rs1490852026 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:62736676 (GRCh38)
    17:60814037 (GRCh37)
    Canonical SPDI:
    NC_000017.11:62736675:T:C
    Gene:
    MARCHF10 (Varview), LOC105371855 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    HGVS:
    NC_000017.11:g.62736676T>C, NC_000017.10:g.60814037T>C, XR_934406.4:n.1561A>G, XR_934406.3:n.1593A>G, XR_934406.2:n.1590A>G, XR_934406.1:n.1590A>G, XM_005257095.4:c.1306A>G, XM_005257095.3:c.1306A>G, XM_005257095.2:c.1306A>G, XM_005257095.1:c.1306A>G, XM_005257098.4:c.1303A>G, XM_005257098.3:c.1303A>G, XM_005257098.2:c.1303A>G, XM_005257098.1:c.1303A>G, NM_152598.4:c.1192A>G, NM_152598.3:c.1192A>G, NM_152598.2:c.1192A>G, XM_005257100.4:c.1192A>G, XM_005257100.3:c.1192A>G, XM_005257100.2:c.1192A>G, XM_005257100.1:c.1192A>G, XM_005257102.4:c.1189A>G, XM_005257102.3:c.1189A>G, XM_005257102.2:c.1189A>G, XM_005257102.1:c.1189A>G, XM_005257106.4:c.973A>G, XM_005257106.3:c.973A>G, XM_005257106.2:c.973A>G, XM_005257106.1:c.973A>G, XM_005257097.3:c.1306A>G, XM_005257097.2:c.1306A>G, XM_005257097.1:c.1306A>G, XM_005257103.3:c.1189A>G, XM_005257103.2:c.1189A>G, XM_005257103.1:c.1189A>G, XM_011524437.3:c.1189A>G, XM_011524437.2:c.1189A>G, XM_011524437.1:c.1189A>G, XM_011524435.3:c.1303A>G, XM_011524435.2:c.1303A>G, XM_011524435.1:c.1303A>G, XM_005257096.3:c.1306A>G, XM_005257096.2:c.1306A>G, XM_005257096.1:c.1306A>G, NM_001100875.3:c.1192A>G, NM_001100875.2:c.1192A>G, NM_001100875.1:c.1192A>G, NM_001288780.2:c.1189A>G, NM_001288780.1:c.1189A>G, NM_001288779.2:c.1306A>G, NM_001288779.1:c.1306A>G, XM_011524436.2:c.1192A>G, XM_011524436.1:c.1192A>G, NR_147886.1:n.1031T>C, XP_005257152.2:p.Lys436Glu, XP_005257155.2:p.Lys435Glu, NP_689811.2:p.Lys398Glu, XP_005257157.2:p.Lys398Glu, XP_005257159.2:p.Lys397Glu, XP_005257163.2:p.Lys325Glu, XP_005257154.2:p.Lys436Glu, XP_005257160.1:p.Lys397Glu, XP_011522739.1:p.Lys397Glu, XP_011522737.1:p.Lys435Glu, XP_005257153.2:p.Lys436Glu, NP_001094345.1:p.Lys398Glu, NP_001275709.1:p.Lys397Glu, NP_001275708.1:p.Lys436Glu, XP_011522738.1:p.Lys398Glu

    2.

    rs1490676435 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      17:62736233 (GRCh38)
      17:60813594 (GRCh37)
      Canonical SPDI:
      NC_000017.11:62736232:T:G
      Gene:
      MARCHF10 (Varview), LOC105371855 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.62736233T>G, NC_000017.10:g.60813594T>G, XR_934406.4:n.2004A>C, XR_934406.3:n.2036A>C, XR_934406.2:n.2033A>C, XR_934406.1:n.2033A>C, XM_005257095.4:c.1749A>C, XM_005257095.3:c.1749A>C, XM_005257095.2:c.1749A>C, XM_005257095.1:c.1749A>C, XM_005257098.4:c.1746A>C, XM_005257098.3:c.1746A>C, XM_005257098.2:c.1746A>C, XM_005257098.1:c.1746A>C, NM_152598.4:c.1635A>C, NM_152598.3:c.1635A>C, NM_152598.2:c.1635A>C, XM_005257100.4:c.1635A>C, XM_005257100.3:c.1635A>C, XM_005257100.2:c.1635A>C, XM_005257100.1:c.1635A>C, XM_005257102.4:c.1632A>C, XM_005257102.3:c.1632A>C, XM_005257102.2:c.1632A>C, XM_005257102.1:c.1632A>C, XM_005257106.4:c.1416A>C, XM_005257106.3:c.1416A>C, XM_005257106.2:c.1416A>C, XM_005257106.1:c.1416A>C, XM_005257097.3:c.1749A>C, XM_005257097.2:c.1749A>C, XM_005257097.1:c.1749A>C, XM_005257103.3:c.1632A>C, XM_005257103.2:c.1632A>C, XM_005257103.1:c.1632A>C, XM_011524437.3:c.1632A>C, XM_011524437.2:c.1632A>C, XM_011524437.1:c.1632A>C, XM_011524435.3:c.1746A>C, XM_011524435.2:c.1746A>C, XM_011524435.1:c.1746A>C, XM_005257096.3:c.1749A>C, XM_005257096.2:c.1749A>C, XM_005257096.1:c.1749A>C, NM_001100875.3:c.1635A>C, NM_001100875.2:c.1635A>C, NM_001100875.1:c.1635A>C, NM_001288780.2:c.1632A>C, NM_001288780.1:c.1632A>C, NM_001288779.2:c.1749A>C, NM_001288779.1:c.1749A>C, XM_011524436.2:c.1635A>C, XM_011524436.1:c.1635A>C, NR_147886.1:n.588T>G, XP_005257152.2:p.Glu583Asp, XP_005257155.2:p.Glu582Asp, NP_689811.2:p.Glu545Asp, XP_005257157.2:p.Glu545Asp, XP_005257159.2:p.Glu544Asp, XP_005257163.2:p.Glu472Asp, XP_005257154.2:p.Glu583Asp, XP_005257160.1:p.Glu544Asp, XP_011522739.1:p.Glu544Asp, XP_011522737.1:p.Glu582Asp, XP_005257153.2:p.Glu583Asp, NP_001094345.1:p.Glu545Asp, NP_001275709.1:p.Glu544Asp, NP_001275708.1:p.Glu583Asp, XP_011522738.1:p.Glu545Asp

      3.

      rs1490346615 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:62722535 (GRCh38)
        17:60799896 (GRCh37)
        Canonical SPDI:
        NC_000017.11:62722534:C:T
        Gene:
        MARCHF10 (Varview), LOC105371855 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000017.11:g.62722535C>T, NC_000017.10:g.60799896C>T, XR_934406.4:n.2536G>A, XR_934406.3:n.2568G>A, XR_934406.2:n.2565G>A, XR_934406.1:n.2565G>A, XM_005257095.4:c.2281G>A, XM_005257095.3:c.2281G>A, XM_005257095.2:c.2281G>A, XM_005257095.1:c.2281G>A, XM_005257098.4:c.2278G>A, XM_005257098.3:c.2278G>A, XM_005257098.2:c.2278G>A, XM_005257098.1:c.2278G>A, NM_152598.4:c.2167G>A, NM_152598.3:c.2167G>A, NM_152598.2:c.2167G>A, XM_005257100.4:c.2167G>A, XM_005257100.3:c.2167G>A, XM_005257100.2:c.2167G>A, XM_005257100.1:c.2167G>A, XM_005257102.4:c.2164G>A, XM_005257102.3:c.2164G>A, XM_005257102.2:c.2164G>A, XM_005257102.1:c.2164G>A, XM_005257106.4:c.1948G>A, XM_005257106.3:c.1948G>A, XM_005257106.2:c.1948G>A, XM_005257106.1:c.1948G>A, XM_005257097.3:c.2281G>A, XM_005257097.2:c.2281G>A, XM_005257097.1:c.2281G>A, XM_005257103.3:c.2164G>A, XM_005257103.2:c.2164G>A, XM_005257103.1:c.2164G>A, XM_011524437.3:c.2164G>A, XM_011524437.2:c.2164G>A, XM_011524437.1:c.2164G>A, XM_011524435.3:c.2278G>A, XM_011524435.2:c.2278G>A, XM_011524435.1:c.2278G>A, XM_005257096.3:c.2281G>A, XM_005257096.2:c.2281G>A, XM_005257096.1:c.2281G>A, NM_001100875.3:c.2167G>A, NM_001100875.2:c.2167G>A, NM_001100875.1:c.2167G>A, NM_001288780.2:c.2164G>A, NM_001288780.1:c.2164G>A, NM_001288779.2:c.2281G>A, NM_001288779.1:c.2281G>A, XM_011524436.2:c.2167G>A, XM_011524436.1:c.2167G>A, XP_005257152.2:p.Gly761Ser, XP_005257155.2:p.Gly760Ser, NP_689811.2:p.Gly723Ser, XP_005257157.2:p.Gly723Ser, XP_005257159.2:p.Gly722Ser, XP_005257163.2:p.Gly650Ser, XP_005257154.2:p.Gly761Ser, XP_005257160.1:p.Gly722Ser, XP_011522739.1:p.Gly722Ser, XP_011522737.1:p.Gly760Ser, XP_005257153.2:p.Gly761Ser, NP_001094345.1:p.Gly723Ser, NP_001275709.1:p.Gly722Ser, NP_001275708.1:p.Gly761Ser, XP_011522738.1:p.Gly723Ser

        4.

        rs1489854936 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:62725094 (GRCh38)
          17:60802455 (GRCh37)
          Canonical SPDI:
          NC_000017.11:62725093:C:T
          Gene:
          MARCHF10 (Varview), LOC105371855 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000011/3 (TOPMED)
          HGVS:
          NC_000017.11:g.62725094C>T, NC_000017.10:g.60802455C>T, XR_934406.4:n.2317G>A, XR_934406.3:n.2349G>A, XR_934406.2:n.2346G>A, XR_934406.1:n.2346G>A, XM_005257095.4:c.2062G>A, XM_005257095.3:c.2062G>A, XM_005257095.2:c.2062G>A, XM_005257095.1:c.2062G>A, XM_005257098.4:c.2059G>A, XM_005257098.3:c.2059G>A, XM_005257098.2:c.2059G>A, XM_005257098.1:c.2059G>A, NM_152598.4:c.1948G>A, NM_152598.3:c.1948G>A, NM_152598.2:c.1948G>A, XM_005257100.4:c.1948G>A, XM_005257100.3:c.1948G>A, XM_005257100.2:c.1948G>A, XM_005257100.1:c.1948G>A, XM_005257102.4:c.1945G>A, XM_005257102.3:c.1945G>A, XM_005257102.2:c.1945G>A, XM_005257102.1:c.1945G>A, XM_005257106.4:c.1729G>A, XM_005257106.3:c.1729G>A, XM_005257106.2:c.1729G>A, XM_005257106.1:c.1729G>A, XM_005257097.3:c.2062G>A, XM_005257097.2:c.2062G>A, XM_005257097.1:c.2062G>A, XM_005257103.3:c.1945G>A, XM_005257103.2:c.1945G>A, XM_005257103.1:c.1945G>A, XM_011524437.3:c.1945G>A, XM_011524437.2:c.1945G>A, XM_011524437.1:c.1945G>A, XM_011524435.3:c.2059G>A, XM_011524435.2:c.2059G>A, XM_011524435.1:c.2059G>A, XM_005257096.3:c.2062G>A, XM_005257096.2:c.2062G>A, XM_005257096.1:c.2062G>A, NM_001100875.3:c.1948G>A, NM_001100875.2:c.1948G>A, NM_001100875.1:c.1948G>A, NM_001288780.2:c.1945G>A, NM_001288780.1:c.1945G>A, NM_001288779.2:c.2062G>A, NM_001288779.1:c.2062G>A, XM_011524436.2:c.1948G>A, XM_011524436.1:c.1948G>A, XP_005257152.2:p.Glu688Lys, XP_005257155.2:p.Glu687Lys, NP_689811.2:p.Glu650Lys, XP_005257157.2:p.Glu650Lys, XP_005257159.2:p.Glu649Lys, XP_005257163.2:p.Glu577Lys, XP_005257154.2:p.Glu688Lys, XP_005257160.1:p.Glu649Lys, XP_011522739.1:p.Glu649Lys, XP_011522737.1:p.Glu687Lys, XP_005257153.2:p.Glu688Lys, NP_001094345.1:p.Glu650Lys, NP_001275709.1:p.Glu649Lys, NP_001275708.1:p.Glu688Lys, XP_011522738.1:p.Glu650Lys

          5.

          rs1489661621 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CTCT [Show Flanks]
            Chromosome:
            17:62759861 (GRCh38)
            17:60837223 (GRCh37)
            Canonical SPDI:
            NC_000017.11:62759861:TCTCT:TCTCTCTCT
            Gene:
            MARCHF10 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
            Validated:
            by frequency
            MAF:
            TCTC=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.62759863CT[4], NC_000017.10:g.60837224CT[4], XR_934406.4:n.607GA[4], XR_934406.3:n.639GA[4], XR_934406.2:n.636GA[4], XR_934406.1:n.636GA[4], XM_005257095.4:c.352_355dup, XM_005257095.3:c.352_355dup, XM_005257095.2:c.352_355dup, XM_005257095.1:c.352_355dup, XM_005257098.4:c.352_355dup, XM_005257098.3:c.352_355dup, XM_005257098.2:c.352_355dup, XM_005257098.1:c.352_355dup, NM_152598.4:c.352_355dup, NM_152598.3:c.352_355dup, NM_152598.2:c.352_355dup, XM_005257100.4:c.352_355dup, XM_005257100.3:c.352_355dup, XM_005257100.2:c.352_355dup, XM_005257100.1:c.352_355dup, XM_005257102.4:c.352_355dup, XM_005257102.3:c.352_355dup, XM_005257102.2:c.352_355dup, XM_005257102.1:c.352_355dup, XM_005257106.4:c.19_22dup, XM_005257106.3:c.19_22dup, XM_005257106.2:c.19_22dup, XM_005257106.1:c.19_22dup, XM_005257097.3:c.352_355dup, XM_005257097.2:c.352_355dup, XM_005257097.1:c.352_355dup, XM_005257103.3:c.352_355dup, XM_005257103.2:c.352_355dup, XM_005257103.1:c.352_355dup, XM_011524437.3:c.352_355dup, XM_011524437.2:c.352_355dup, XM_011524437.1:c.352_355dup, XM_011524435.3:c.352_355dup, XM_011524435.2:c.352_355dup, XM_011524435.1:c.352_355dup, XM_005257096.3:c.352_355dup, XM_005257096.2:c.352_355dup, XM_005257096.1:c.352_355dup, NM_001100875.3:c.352_355dup, NM_001100875.2:c.352_355dup, NM_001100875.1:c.352_355dup, NM_001288780.2:c.352_355dup, NM_001288780.1:c.352_355dup, NM_001288779.2:c.352_355dup, NM_001288779.1:c.352_355dup, XM_011524436.2:c.352_355dup, XM_011524436.1:c.352_355dup, XP_005257152.2:p.Lys119fs, XP_005257155.2:p.Lys119fs, NP_689811.2:p.Lys119fs, XP_005257157.2:p.Lys119fs, XP_005257159.2:p.Lys119fs, XP_005257163.2:p.Lys8fs, XP_005257154.2:p.Lys119fs, XP_005257160.1:p.Lys119fs, XP_011522739.1:p.Lys119fs, XP_011522737.1:p.Lys119fs, XP_005257153.2:p.Lys119fs, NP_001094345.1:p.Lys119fs, NP_001275709.1:p.Lys119fs, NP_001275708.1:p.Lys119fs, XP_011522738.1:p.Lys119fs

            6.

            rs1489000991 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              17:62744509 (GRCh38)
              17:60821870 (GRCh37)
              Canonical SPDI:
              NC_000017.11:62744508:A:T
              Gene:
              MARCHF10 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000017.11:g.62744509A>T, NC_000017.10:g.60821870A>T, XR_934406.4:n.771T>A, XR_934406.3:n.803T>A, XR_934406.2:n.800T>A, XR_934406.1:n.800T>A, XM_005257095.4:c.516T>A, XM_005257095.3:c.516T>A, XM_005257095.2:c.516T>A, XM_005257095.1:c.516T>A, XM_005257098.4:c.513T>A, XM_005257098.3:c.513T>A, XM_005257098.2:c.513T>A, XM_005257098.1:c.513T>A, NM_152598.4:c.402T>A, NM_152598.3:c.402T>A, NM_152598.2:c.402T>A, XM_005257100.4:c.402T>A, XM_005257100.3:c.402T>A, XM_005257100.2:c.402T>A, XM_005257100.1:c.402T>A, XM_005257102.4:c.399T>A, XM_005257102.3:c.399T>A, XM_005257102.2:c.399T>A, XM_005257102.1:c.399T>A, XM_005257106.4:c.183T>A, XM_005257106.3:c.183T>A, XM_005257106.2:c.183T>A, XM_005257106.1:c.183T>A, XM_005257097.3:c.516T>A, XM_005257097.2:c.516T>A, XM_005257097.1:c.516T>A, XM_005257103.3:c.399T>A, XM_005257103.2:c.399T>A, XM_005257103.1:c.399T>A, XM_011524437.3:c.399T>A, XM_011524437.2:c.399T>A, XM_011524437.1:c.399T>A, XM_011524435.3:c.513T>A, XM_011524435.2:c.513T>A, XM_011524435.1:c.513T>A, XM_005257096.3:c.516T>A, XM_005257096.2:c.516T>A, XM_005257096.1:c.516T>A, NM_001100875.3:c.402T>A, NM_001100875.2:c.402T>A, NM_001100875.1:c.402T>A, NM_001288780.2:c.399T>A, NM_001288780.1:c.399T>A, NM_001288779.2:c.516T>A, NM_001288779.1:c.516T>A, XM_011524436.2:c.402T>A, XM_011524436.1:c.402T>A

              7.

              rs1487391756 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:62705520 (GRCh38)
                17:60782881 (GRCh37)
                Canonical SPDI:
                NC_000017.11:62705519:A:G
                Gene:
                MARCHF10 (Varview), LOC105371855 (Varview)
                Functional Consequence:
                coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.0016/3 (Korea1K)
                HGVS:

                8.

                rs1487119921 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  17:62736328 (GRCh38)
                  17:60813689 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:62736327:A:T
                  Gene:
                  MARCHF10 (Varview), LOC105371855 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000017.11:g.62736328A>T, NC_000017.10:g.60813689A>T, XR_934406.4:n.1909T>A, XR_934406.3:n.1941T>A, XR_934406.2:n.1938T>A, XR_934406.1:n.1938T>A, XM_005257095.4:c.1654T>A, XM_005257095.3:c.1654T>A, XM_005257095.2:c.1654T>A, XM_005257095.1:c.1654T>A, XM_005257098.4:c.1651T>A, XM_005257098.3:c.1651T>A, XM_005257098.2:c.1651T>A, XM_005257098.1:c.1651T>A, NM_152598.4:c.1540T>A, NM_152598.3:c.1540T>A, NM_152598.2:c.1540T>A, XM_005257100.4:c.1540T>A, XM_005257100.3:c.1540T>A, XM_005257100.2:c.1540T>A, XM_005257100.1:c.1540T>A, XM_005257102.4:c.1537T>A, XM_005257102.3:c.1537T>A, XM_005257102.2:c.1537T>A, XM_005257102.1:c.1537T>A, XM_005257106.4:c.1321T>A, XM_005257106.3:c.1321T>A, XM_005257106.2:c.1321T>A, XM_005257106.1:c.1321T>A, XM_005257097.3:c.1654T>A, XM_005257097.2:c.1654T>A, XM_005257097.1:c.1654T>A, XM_005257103.3:c.1537T>A, XM_005257103.2:c.1537T>A, XM_005257103.1:c.1537T>A, XM_011524437.3:c.1537T>A, XM_011524437.2:c.1537T>A, XM_011524437.1:c.1537T>A, XM_011524435.3:c.1651T>A, XM_011524435.2:c.1651T>A, XM_011524435.1:c.1651T>A, XM_005257096.3:c.1654T>A, XM_005257096.2:c.1654T>A, XM_005257096.1:c.1654T>A, NM_001100875.3:c.1540T>A, NM_001100875.2:c.1540T>A, NM_001100875.1:c.1540T>A, NM_001288780.2:c.1537T>A, NM_001288780.1:c.1537T>A, NM_001288779.2:c.1654T>A, NM_001288779.1:c.1654T>A, XM_011524436.2:c.1540T>A, XM_011524436.1:c.1540T>A, NR_147886.1:n.683A>T, XP_005257152.2:p.Ser552Thr, XP_005257155.2:p.Ser551Thr, NP_689811.2:p.Ser514Thr, XP_005257157.2:p.Ser514Thr, XP_005257159.2:p.Ser513Thr, XP_005257163.2:p.Ser441Thr, XP_005257154.2:p.Ser552Thr, XP_005257160.1:p.Ser513Thr, XP_011522739.1:p.Ser513Thr, XP_011522737.1:p.Ser551Thr, XP_005257153.2:p.Ser552Thr, NP_001094345.1:p.Ser514Thr, NP_001275709.1:p.Ser513Thr, NP_001275708.1:p.Ser552Thr, XP_011522738.1:p.Ser514Thr

                  9.

                  rs1481471851 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    17:62736610 (GRCh38)
                    17:60813971 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:62736609:C:A,NC_000017.11:62736609:C:T
                    Gene:
                    MARCHF10 (Varview), LOC105371855 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.62736610C>A, NC_000017.11:g.62736610C>T, NC_000017.10:g.60813971C>A, NC_000017.10:g.60813971C>T, XR_934406.4:n.1627G>T, XR_934406.4:n.1627G>A, XR_934406.3:n.1659G>T, XR_934406.3:n.1659G>A, XR_934406.2:n.1656G>T, XR_934406.2:n.1656G>A, XR_934406.1:n.1656G>T, XR_934406.1:n.1656G>A, XM_005257095.4:c.1372G>T, XM_005257095.4:c.1372G>A, XM_005257095.3:c.1372G>T, XM_005257095.3:c.1372G>A, XM_005257095.2:c.1372G>T, XM_005257095.2:c.1372G>A, XM_005257095.1:c.1372G>T, XM_005257095.1:c.1372G>A, XM_005257098.4:c.1369G>T, XM_005257098.4:c.1369G>A, XM_005257098.3:c.1369G>T, XM_005257098.3:c.1369G>A, XM_005257098.2:c.1369G>T, XM_005257098.2:c.1369G>A, XM_005257098.1:c.1369G>T, XM_005257098.1:c.1369G>A, NM_152598.4:c.1258G>T, NM_152598.4:c.1258G>A, NM_152598.3:c.1258G>T, NM_152598.3:c.1258G>A, NM_152598.2:c.1258G>T, NM_152598.2:c.1258G>A, XM_005257100.4:c.1258G>T, XM_005257100.4:c.1258G>A, XM_005257100.3:c.1258G>T, XM_005257100.3:c.1258G>A, XM_005257100.2:c.1258G>T, XM_005257100.2:c.1258G>A, XM_005257100.1:c.1258G>T, XM_005257100.1:c.1258G>A, XM_005257102.4:c.1255G>T, XM_005257102.4:c.1255G>A, XM_005257102.3:c.1255G>T, XM_005257102.3:c.1255G>A, XM_005257102.2:c.1255G>T, XM_005257102.2:c.1255G>A, XM_005257102.1:c.1255G>T, XM_005257102.1:c.1255G>A, XM_005257106.4:c.1039G>T, XM_005257106.4:c.1039G>A, XM_005257106.3:c.1039G>T, XM_005257106.3:c.1039G>A, XM_005257106.2:c.1039G>T, XM_005257106.2:c.1039G>A, XM_005257106.1:c.1039G>T, XM_005257106.1:c.1039G>A, XM_005257097.3:c.1372G>T, XM_005257097.3:c.1372G>A, XM_005257097.2:c.1372G>T, XM_005257097.2:c.1372G>A, XM_005257097.1:c.1372G>T, XM_005257097.1:c.1372G>A, XM_005257103.3:c.1255G>T, XM_005257103.3:c.1255G>A, XM_005257103.2:c.1255G>T, XM_005257103.2:c.1255G>A, XM_005257103.1:c.1255G>T, XM_005257103.1:c.1255G>A, XM_011524437.3:c.1255G>T, XM_011524437.3:c.1255G>A, XM_011524437.2:c.1255G>T, XM_011524437.2:c.1255G>A, XM_011524437.1:c.1255G>T, XM_011524437.1:c.1255G>A, XM_011524435.3:c.1369G>T, XM_011524435.3:c.1369G>A, XM_011524435.2:c.1369G>T, XM_011524435.2:c.1369G>A, XM_011524435.1:c.1369G>T, XM_011524435.1:c.1369G>A, XM_005257096.3:c.1372G>T, XM_005257096.3:c.1372G>A, XM_005257096.2:c.1372G>T, XM_005257096.2:c.1372G>A, XM_005257096.1:c.1372G>T, XM_005257096.1:c.1372G>A, NM_001100875.3:c.1258G>T, NM_001100875.3:c.1258G>A, NM_001100875.2:c.1258G>T, NM_001100875.2:c.1258G>A, NM_001100875.1:c.1258G>T, NM_001100875.1:c.1258G>A, NM_001288780.2:c.1255G>T, NM_001288780.2:c.1255G>A, NM_001288780.1:c.1255G>T, NM_001288780.1:c.1255G>A, NM_001288779.2:c.1372G>T, NM_001288779.2:c.1372G>A, NM_001288779.1:c.1372G>T, NM_001288779.1:c.1372G>A, XM_011524436.2:c.1258G>T, XM_011524436.2:c.1258G>A, XM_011524436.1:c.1258G>T, XM_011524436.1:c.1258G>A, NR_147886.1:n.965C>A, NR_147886.1:n.965C>T, XP_005257152.2:p.Val458Leu, XP_005257152.2:p.Val458Ile, XP_005257155.2:p.Val457Leu, XP_005257155.2:p.Val457Ile, NP_689811.2:p.Val420Leu, NP_689811.2:p.Val420Ile, XP_005257157.2:p.Val420Leu, XP_005257157.2:p.Val420Ile, XP_005257159.2:p.Val419Leu, XP_005257159.2:p.Val419Ile, XP_005257163.2:p.Val347Leu, XP_005257163.2:p.Val347Ile, XP_005257154.2:p.Val458Leu, XP_005257154.2:p.Val458Ile, XP_005257160.1:p.Val419Leu, XP_005257160.1:p.Val419Ile, XP_011522739.1:p.Val419Leu, XP_011522739.1:p.Val419Ile, XP_011522737.1:p.Val457Leu, XP_011522737.1:p.Val457Ile, XP_005257153.2:p.Val458Leu, XP_005257153.2:p.Val458Ile, NP_001094345.1:p.Val420Leu, NP_001094345.1:p.Val420Ile, NP_001275709.1:p.Val419Leu, NP_001275709.1:p.Val419Ile, NP_001275708.1:p.Val458Leu, NP_001275708.1:p.Val458Ile, XP_011522738.1:p.Val420Leu, XP_011522738.1:p.Val420Ile

                    10.

                    rs1478562612 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:62744449 (GRCh38)
                      17:60821810 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:62744448:G:A
                      Gene:
                      MARCHF10 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000056/2 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000014/2 (GnomAD)
                      A=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000017.11:g.62744449G>A, NC_000017.10:g.60821810G>A, XR_934406.4:n.831C>T, XR_934406.3:n.863C>T, XR_934406.2:n.860C>T, XR_934406.1:n.860C>T, XM_005257095.4:c.576C>T, XM_005257095.3:c.576C>T, XM_005257095.2:c.576C>T, XM_005257095.1:c.576C>T, XM_005257098.4:c.573C>T, XM_005257098.3:c.573C>T, XM_005257098.2:c.573C>T, XM_005257098.1:c.573C>T, NM_152598.4:c.462C>T, NM_152598.3:c.462C>T, NM_152598.2:c.462C>T, XM_005257100.4:c.462C>T, XM_005257100.3:c.462C>T, XM_005257100.2:c.462C>T, XM_005257100.1:c.462C>T, XM_005257102.4:c.459C>T, XM_005257102.3:c.459C>T, XM_005257102.2:c.459C>T, XM_005257102.1:c.459C>T, XM_005257106.4:c.243C>T, XM_005257106.3:c.243C>T, XM_005257106.2:c.243C>T, XM_005257106.1:c.243C>T, XM_005257097.3:c.576C>T, XM_005257097.2:c.576C>T, XM_005257097.1:c.576C>T, XM_005257103.3:c.459C>T, XM_005257103.2:c.459C>T, XM_005257103.1:c.459C>T, XM_011524437.3:c.459C>T, XM_011524437.2:c.459C>T, XM_011524437.1:c.459C>T, XM_011524435.3:c.573C>T, XM_011524435.2:c.573C>T, XM_011524435.1:c.573C>T, XM_005257096.3:c.576C>T, XM_005257096.2:c.576C>T, XM_005257096.1:c.576C>T, NM_001100875.3:c.462C>T, NM_001100875.2:c.462C>T, NM_001100875.1:c.462C>T, NM_001288780.2:c.459C>T, NM_001288780.1:c.459C>T, NM_001288779.2:c.576C>T, NM_001288779.1:c.576C>T, XM_011524436.2:c.462C>T, XM_011524436.1:c.462C>T

                      11.

                      rs1477567280 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        17:62736948 (GRCh38)
                        17:60814309 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:62736947:G:A,NC_000017.11:62736947:G:T
                        Gene:
                        MARCHF10 (Varview), LOC105371855 (Varview)
                        Functional Consequence:
                        stop_gained,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        A=0.000156/1 (1000Genomes)
                        HGVS:
                        NC_000017.11:g.62736948G>A, NC_000017.11:g.62736948G>T, NC_000017.10:g.60814309G>A, NC_000017.10:g.60814309G>T, XR_934406.4:n.1289C>T, XR_934406.4:n.1289C>A, XR_934406.3:n.1321C>T, XR_934406.3:n.1321C>A, XR_934406.2:n.1318C>T, XR_934406.2:n.1318C>A, XR_934406.1:n.1318C>T, XR_934406.1:n.1318C>A, XM_005257095.4:c.1034C>T, XM_005257095.4:c.1034C>A, XM_005257095.3:c.1034C>T, XM_005257095.3:c.1034C>A, XM_005257095.2:c.1034C>T, XM_005257095.2:c.1034C>A, XM_005257095.1:c.1034C>T, XM_005257095.1:c.1034C>A, XM_005257098.4:c.1031C>T, XM_005257098.4:c.1031C>A, XM_005257098.3:c.1031C>T, XM_005257098.3:c.1031C>A, XM_005257098.2:c.1031C>T, XM_005257098.2:c.1031C>A, XM_005257098.1:c.1031C>T, XM_005257098.1:c.1031C>A, NM_152598.4:c.920C>T, NM_152598.4:c.920C>A, NM_152598.3:c.920C>T, NM_152598.3:c.920C>A, NM_152598.2:c.920C>T, NM_152598.2:c.920C>A, XM_005257100.4:c.920C>T, XM_005257100.4:c.920C>A, XM_005257100.3:c.920C>T, XM_005257100.3:c.920C>A, XM_005257100.2:c.920C>T, XM_005257100.2:c.920C>A, XM_005257100.1:c.920C>T, XM_005257100.1:c.920C>A, XM_005257102.4:c.917C>T, XM_005257102.4:c.917C>A, XM_005257102.3:c.917C>T, XM_005257102.3:c.917C>A, XM_005257102.2:c.917C>T, XM_005257102.2:c.917C>A, XM_005257102.1:c.917C>T, XM_005257102.1:c.917C>A, XM_005257106.4:c.701C>T, XM_005257106.4:c.701C>A, XM_005257106.3:c.701C>T, XM_005257106.3:c.701C>A, XM_005257106.2:c.701C>T, XM_005257106.2:c.701C>A, XM_005257106.1:c.701C>T, XM_005257106.1:c.701C>A, XM_005257097.3:c.1034C>T, XM_005257097.3:c.1034C>A, XM_005257097.2:c.1034C>T, XM_005257097.2:c.1034C>A, XM_005257097.1:c.1034C>T, XM_005257097.1:c.1034C>A, XM_005257103.3:c.917C>T, XM_005257103.3:c.917C>A, XM_005257103.2:c.917C>T, XM_005257103.2:c.917C>A, XM_005257103.1:c.917C>T, XM_005257103.1:c.917C>A, XM_011524437.3:c.917C>T, XM_011524437.3:c.917C>A, XM_011524437.2:c.917C>T, XM_011524437.2:c.917C>A, XM_011524437.1:c.917C>T, XM_011524437.1:c.917C>A, XM_011524435.3:c.1031C>T, XM_011524435.3:c.1031C>A, XM_011524435.2:c.1031C>T, XM_011524435.2:c.1031C>A, XM_011524435.1:c.1031C>T, XM_011524435.1:c.1031C>A, XM_005257096.3:c.1034C>T, XM_005257096.3:c.1034C>A, XM_005257096.2:c.1034C>T, XM_005257096.2:c.1034C>A, XM_005257096.1:c.1034C>T, XM_005257096.1:c.1034C>A, NM_001100875.3:c.920C>T, NM_001100875.3:c.920C>A, NM_001100875.2:c.920C>T, NM_001100875.2:c.920C>A, NM_001100875.1:c.920C>T, NM_001100875.1:c.920C>A, NM_001288780.2:c.917C>T, NM_001288780.2:c.917C>A, NM_001288780.1:c.917C>T, NM_001288780.1:c.917C>A, NM_001288779.2:c.1034C>T, NM_001288779.2:c.1034C>A, NM_001288779.1:c.1034C>T, NM_001288779.1:c.1034C>A, XM_011524436.2:c.920C>T, XM_011524436.2:c.920C>A, XM_011524436.1:c.920C>T, XM_011524436.1:c.920C>A, NR_147886.1:n.1303G>A, NR_147886.1:n.1303G>T, XP_005257152.2:p.Ser345Leu, XP_005257152.2:p.Ser345Ter, XP_005257155.2:p.Ser344Leu, XP_005257155.2:p.Ser344Ter, NP_689811.2:p.Ser307Leu, NP_689811.2:p.Ser307Ter, XP_005257157.2:p.Ser307Leu, XP_005257157.2:p.Ser307Ter, XP_005257159.2:p.Ser306Leu, XP_005257159.2:p.Ser306Ter, XP_005257163.2:p.Ser234Leu, XP_005257163.2:p.Ser234Ter, XP_005257154.2:p.Ser345Leu, XP_005257154.2:p.Ser345Ter, XP_005257160.1:p.Ser306Leu, XP_005257160.1:p.Ser306Ter, XP_011522739.1:p.Ser306Leu, XP_011522739.1:p.Ser306Ter, XP_011522737.1:p.Ser344Leu, XP_011522737.1:p.Ser344Ter, XP_005257153.2:p.Ser345Leu, XP_005257153.2:p.Ser345Ter, NP_001094345.1:p.Ser307Leu, NP_001094345.1:p.Ser307Ter, NP_001275709.1:p.Ser306Leu, NP_001275709.1:p.Ser306Ter, NP_001275708.1:p.Ser345Leu, NP_001275708.1:p.Ser345Ter, XP_011522738.1:p.Ser307Leu, XP_011522738.1:p.Ser307Ter

                        12.

                        rs1476475483 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          17:62736638 (GRCh38)
                          17:60813999 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:62736637:T:
                          Gene:
                          MARCHF10 (Varview), LOC105371855 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000017.11:g.62736638del, NC_000017.10:g.60813999del, XR_934406.4:n.1599del, XR_934406.3:n.1631del, XR_934406.2:n.1628del, XR_934406.1:n.1628del, XM_005257095.4:c.1344del, XM_005257095.3:c.1344del, XM_005257095.2:c.1344del, XM_005257095.1:c.1344del, XM_005257098.4:c.1341del, XM_005257098.3:c.1341del, XM_005257098.2:c.1341del, XM_005257098.1:c.1341del, NM_152598.4:c.1230del, NM_152598.3:c.1230del, NM_152598.2:c.1230del, XM_005257100.4:c.1230del, XM_005257100.3:c.1230del, XM_005257100.2:c.1230del, XM_005257100.1:c.1230del, XM_005257102.4:c.1227del, XM_005257102.3:c.1227del, XM_005257102.2:c.1227del, XM_005257102.1:c.1227del, XM_005257106.4:c.1011del, XM_005257106.3:c.1011del, XM_005257106.2:c.1011del, XM_005257106.1:c.1011del, XM_005257097.3:c.1344del, XM_005257097.2:c.1344del, XM_005257097.1:c.1344del, XM_005257103.3:c.1227del, XM_005257103.2:c.1227del, XM_005257103.1:c.1227del, XM_011524437.3:c.1227del, XM_011524437.2:c.1227del, XM_011524437.1:c.1227del, XM_011524435.3:c.1341del, XM_011524435.2:c.1341del, XM_011524435.1:c.1341del, XM_005257096.3:c.1344del, XM_005257096.2:c.1344del, XM_005257096.1:c.1344del, NM_001100875.3:c.1230del, NM_001100875.2:c.1230del, NM_001100875.1:c.1230del, NM_001288780.2:c.1227del, NM_001288780.1:c.1227del, NM_001288779.2:c.1344del, NM_001288779.1:c.1344del, XM_011524436.2:c.1230del, XM_011524436.1:c.1230del, NR_147886.1:n.993del, XP_005257152.2:p.Arg448fs, XP_005257155.2:p.Arg447fs, NP_689811.2:p.Arg410fs, XP_005257157.2:p.Arg410fs, XP_005257159.2:p.Arg409fs, XP_005257163.2:p.Arg337fs, XP_005257154.2:p.Arg448fs, XP_005257160.1:p.Arg409fs, XP_011522739.1:p.Arg409fs, XP_011522737.1:p.Arg447fs, XP_005257153.2:p.Arg448fs, NP_001094345.1:p.Arg410fs, NP_001275709.1:p.Arg409fs, NP_001275708.1:p.Arg448fs, XP_011522738.1:p.Arg410fs

                          13.

                          rs1476094010 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            17:62736877 (GRCh38)
                            17:60814238 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:62736876:T:G
                            Gene:
                            MARCHF10 (Varview), LOC105371855 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.00002/5 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.62736877T>G, NC_000017.10:g.60814238T>G, XR_934406.4:n.1360A>C, XR_934406.3:n.1392A>C, XR_934406.2:n.1389A>C, XR_934406.1:n.1389A>C, XM_005257095.4:c.1105A>C, XM_005257095.3:c.1105A>C, XM_005257095.2:c.1105A>C, XM_005257095.1:c.1105A>C, XM_005257098.4:c.1102A>C, XM_005257098.3:c.1102A>C, XM_005257098.2:c.1102A>C, XM_005257098.1:c.1102A>C, NM_152598.4:c.991A>C, NM_152598.3:c.991A>C, NM_152598.2:c.991A>C, XM_005257100.4:c.991A>C, XM_005257100.3:c.991A>C, XM_005257100.2:c.991A>C, XM_005257100.1:c.991A>C, XM_005257102.4:c.988A>C, XM_005257102.3:c.988A>C, XM_005257102.2:c.988A>C, XM_005257102.1:c.988A>C, XM_005257106.4:c.772A>C, XM_005257106.3:c.772A>C, XM_005257106.2:c.772A>C, XM_005257106.1:c.772A>C, XM_005257097.3:c.1105A>C, XM_005257097.2:c.1105A>C, XM_005257097.1:c.1105A>C, XM_005257103.3:c.988A>C, XM_005257103.2:c.988A>C, XM_005257103.1:c.988A>C, XM_011524437.3:c.988A>C, XM_011524437.2:c.988A>C, XM_011524437.1:c.988A>C, XM_011524435.3:c.1102A>C, XM_011524435.2:c.1102A>C, XM_011524435.1:c.1102A>C, XM_005257096.3:c.1105A>C, XM_005257096.2:c.1105A>C, XM_005257096.1:c.1105A>C, NM_001100875.3:c.991A>C, NM_001100875.2:c.991A>C, NM_001100875.1:c.991A>C, NM_001288780.2:c.988A>C, NM_001288780.1:c.988A>C, NM_001288779.2:c.1105A>C, NM_001288779.1:c.1105A>C, XM_011524436.2:c.991A>C, XM_011524436.1:c.991A>C, NR_147886.1:n.1232T>G, XP_005257152.2:p.Asn369His, XP_005257155.2:p.Asn368His, NP_689811.2:p.Asn331His, XP_005257157.2:p.Asn331His, XP_005257159.2:p.Asn330His, XP_005257163.2:p.Asn258His, XP_005257154.2:p.Asn369His, XP_005257160.1:p.Asn330His, XP_011522739.1:p.Asn330His, XP_011522737.1:p.Asn368His, XP_005257153.2:p.Asn369His, NP_001094345.1:p.Asn331His, NP_001275709.1:p.Asn330His, NP_001275708.1:p.Asn369His, XP_011522738.1:p.Asn331His

                            14.

                            rs1474114724 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:62724993 (GRCh38)
                              17:60802354 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:62724992:C:T
                              Gene:
                              MARCHF10 (Varview), LOC105371855 (Varview)
                              Functional Consequence:
                              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000017.11:g.62724993C>T, NC_000017.10:g.60802354C>T, XR_934406.4:n.2418G>A, XR_934406.3:n.2450G>A, XR_934406.2:n.2447G>A, XR_934406.1:n.2447G>A, XM_005257095.4:c.2163G>A, XM_005257095.3:c.2163G>A, XM_005257095.2:c.2163G>A, XM_005257095.1:c.2163G>A, XM_005257098.4:c.2160G>A, XM_005257098.3:c.2160G>A, XM_005257098.2:c.2160G>A, XM_005257098.1:c.2160G>A, NM_152598.4:c.2049G>A, NM_152598.3:c.2049G>A, NM_152598.2:c.2049G>A, XM_005257100.4:c.2049G>A, XM_005257100.3:c.2049G>A, XM_005257100.2:c.2049G>A, XM_005257100.1:c.2049G>A, XM_005257102.4:c.2046G>A, XM_005257102.3:c.2046G>A, XM_005257102.2:c.2046G>A, XM_005257102.1:c.2046G>A, XM_005257106.4:c.1830G>A, XM_005257106.3:c.1830G>A, XM_005257106.2:c.1830G>A, XM_005257106.1:c.1830G>A, XM_005257097.3:c.2163G>A, XM_005257097.2:c.2163G>A, XM_005257097.1:c.2163G>A, XM_005257103.3:c.2046G>A, XM_005257103.2:c.2046G>A, XM_005257103.1:c.2046G>A, XM_011524437.3:c.2046G>A, XM_011524437.2:c.2046G>A, XM_011524437.1:c.2046G>A, XM_011524435.3:c.2160G>A, XM_011524435.2:c.2160G>A, XM_011524435.1:c.2160G>A, XM_005257096.3:c.2163G>A, XM_005257096.2:c.2163G>A, XM_005257096.1:c.2163G>A, NM_001100875.3:c.2049G>A, NM_001100875.2:c.2049G>A, NM_001100875.1:c.2049G>A, NM_001288780.2:c.2046G>A, NM_001288780.1:c.2046G>A, NM_001288779.2:c.2163G>A, NM_001288779.1:c.2163G>A, XM_011524436.2:c.2049G>A, XM_011524436.1:c.2049G>A

                              15.

                              rs1474069288 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:62744450 (GRCh38)
                                17:60821811 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:62744449:C:T
                                Gene:
                                MARCHF10 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000017.11:g.62744450C>T, NC_000017.10:g.60821811C>T, XR_934406.4:n.830G>A, XR_934406.3:n.862G>A, XR_934406.2:n.859G>A, XR_934406.1:n.859G>A, XM_005257095.4:c.575G>A, XM_005257095.3:c.575G>A, XM_005257095.2:c.575G>A, XM_005257095.1:c.575G>A, XM_005257098.4:c.572G>A, XM_005257098.3:c.572G>A, XM_005257098.2:c.572G>A, XM_005257098.1:c.572G>A, NM_152598.4:c.461G>A, NM_152598.3:c.461G>A, NM_152598.2:c.461G>A, XM_005257100.4:c.461G>A, XM_005257100.3:c.461G>A, XM_005257100.2:c.461G>A, XM_005257100.1:c.461G>A, XM_005257102.4:c.458G>A, XM_005257102.3:c.458G>A, XM_005257102.2:c.458G>A, XM_005257102.1:c.458G>A, XM_005257106.4:c.242G>A, XM_005257106.3:c.242G>A, XM_005257106.2:c.242G>A, XM_005257106.1:c.242G>A, XM_005257097.3:c.575G>A, XM_005257097.2:c.575G>A, XM_005257097.1:c.575G>A, XM_005257103.3:c.458G>A, XM_005257103.2:c.458G>A, XM_005257103.1:c.458G>A, XM_011524437.3:c.458G>A, XM_011524437.2:c.458G>A, XM_011524437.1:c.458G>A, XM_011524435.3:c.572G>A, XM_011524435.2:c.572G>A, XM_011524435.1:c.572G>A, XM_005257096.3:c.575G>A, XM_005257096.2:c.575G>A, XM_005257096.1:c.575G>A, NM_001100875.3:c.461G>A, NM_001100875.2:c.461G>A, NM_001100875.1:c.461G>A, NM_001288780.2:c.458G>A, NM_001288780.1:c.458G>A, NM_001288779.2:c.575G>A, NM_001288779.1:c.575G>A, XM_011524436.2:c.461G>A, XM_011524436.1:c.461G>A, XP_005257152.2:p.Ser192Asn, XP_005257155.2:p.Ser191Asn, NP_689811.2:p.Ser154Asn, XP_005257157.2:p.Ser154Asn, XP_005257159.2:p.Ser153Asn, XP_005257163.2:p.Ser81Asn, XP_005257154.2:p.Ser192Asn, XP_005257160.1:p.Ser153Asn, XP_011522739.1:p.Ser153Asn, XP_011522737.1:p.Ser191Asn, XP_005257153.2:p.Ser192Asn, NP_001094345.1:p.Ser154Asn, NP_001275709.1:p.Ser153Asn, NP_001275708.1:p.Ser192Asn, XP_011522738.1:p.Ser154Asn

                                16.

                                rs1472059711 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  17:62736784 (GRCh38)
                                  17:60814145 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:62736783:G:C
                                  Gene:
                                  MARCHF10 (Varview), LOC105371855 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.62736784G>C, NC_000017.10:g.60814145G>C, XR_934406.4:n.1453C>G, XR_934406.3:n.1485C>G, XR_934406.2:n.1482C>G, XR_934406.1:n.1482C>G, XM_005257095.4:c.1198C>G, XM_005257095.3:c.1198C>G, XM_005257095.2:c.1198C>G, XM_005257095.1:c.1198C>G, XM_005257098.4:c.1195C>G, XM_005257098.3:c.1195C>G, XM_005257098.2:c.1195C>G, XM_005257098.1:c.1195C>G, NM_152598.4:c.1084C>G, NM_152598.3:c.1084C>G, NM_152598.2:c.1084C>G, XM_005257100.4:c.1084C>G, XM_005257100.3:c.1084C>G, XM_005257100.2:c.1084C>G, XM_005257100.1:c.1084C>G, XM_005257102.4:c.1081C>G, XM_005257102.3:c.1081C>G, XM_005257102.2:c.1081C>G, XM_005257102.1:c.1081C>G, XM_005257106.4:c.865C>G, XM_005257106.3:c.865C>G, XM_005257106.2:c.865C>G, XM_005257106.1:c.865C>G, XM_005257097.3:c.1198C>G, XM_005257097.2:c.1198C>G, XM_005257097.1:c.1198C>G, XM_005257103.3:c.1081C>G, XM_005257103.2:c.1081C>G, XM_005257103.1:c.1081C>G, XM_011524437.3:c.1081C>G, XM_011524437.2:c.1081C>G, XM_011524437.1:c.1081C>G, XM_011524435.3:c.1195C>G, XM_011524435.2:c.1195C>G, XM_011524435.1:c.1195C>G, XM_005257096.3:c.1198C>G, XM_005257096.2:c.1198C>G, XM_005257096.1:c.1198C>G, NM_001100875.3:c.1084C>G, NM_001100875.2:c.1084C>G, NM_001100875.1:c.1084C>G, NM_001288780.2:c.1081C>G, NM_001288780.1:c.1081C>G, NM_001288779.2:c.1198C>G, NM_001288779.1:c.1198C>G, XM_011524436.2:c.1084C>G, XM_011524436.1:c.1084C>G, NR_147886.1:n.1139G>C, XP_005257152.2:p.Pro400Ala, XP_005257155.2:p.Pro399Ala, NP_689811.2:p.Pro362Ala, XP_005257157.2:p.Pro362Ala, XP_005257159.2:p.Pro361Ala, XP_005257163.2:p.Pro289Ala, XP_005257154.2:p.Pro400Ala, XP_005257160.1:p.Pro361Ala, XP_011522739.1:p.Pro361Ala, XP_011522737.1:p.Pro399Ala, XP_005257153.2:p.Pro400Ala, NP_001094345.1:p.Pro362Ala, NP_001275709.1:p.Pro361Ala, NP_001275708.1:p.Pro400Ala, XP_011522738.1:p.Pro362Ala

                                  17.

                                  rs1471516180 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    17:62737052 (GRCh38)
                                    17:60814413 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:62737051:T:G
                                    Gene:
                                    MARCHF10 (Varview), LOC105371855 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000028/1 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.62737052T>G, NC_000017.10:g.60814413T>G, XR_934406.4:n.1185A>C, XR_934406.3:n.1217A>C, XR_934406.2:n.1214A>C, XR_934406.1:n.1214A>C, XM_005257095.4:c.930A>C, XM_005257095.3:c.930A>C, XM_005257095.2:c.930A>C, XM_005257095.1:c.930A>C, XM_005257098.4:c.927A>C, XM_005257098.3:c.927A>C, XM_005257098.2:c.927A>C, XM_005257098.1:c.927A>C, NM_152598.4:c.816A>C, NM_152598.3:c.816A>C, NM_152598.2:c.816A>C, XM_005257100.4:c.816A>C, XM_005257100.3:c.816A>C, XM_005257100.2:c.816A>C, XM_005257100.1:c.816A>C, XM_005257102.4:c.813A>C, XM_005257102.3:c.813A>C, XM_005257102.2:c.813A>C, XM_005257102.1:c.813A>C, XM_005257106.4:c.597A>C, XM_005257106.3:c.597A>C, XM_005257106.2:c.597A>C, XM_005257106.1:c.597A>C, XM_005257097.3:c.930A>C, XM_005257097.2:c.930A>C, XM_005257097.1:c.930A>C, XM_005257103.3:c.813A>C, XM_005257103.2:c.813A>C, XM_005257103.1:c.813A>C, XM_011524437.3:c.813A>C, XM_011524437.2:c.813A>C, XM_011524437.1:c.813A>C, XM_011524435.3:c.927A>C, XM_011524435.2:c.927A>C, XM_011524435.1:c.927A>C, XM_005257096.3:c.930A>C, XM_005257096.2:c.930A>C, XM_005257096.1:c.930A>C, NM_001100875.3:c.816A>C, NM_001100875.2:c.816A>C, NM_001100875.1:c.816A>C, NM_001288780.2:c.813A>C, NM_001288780.1:c.813A>C, NM_001288779.2:c.930A>C, NM_001288779.1:c.930A>C, XM_011524436.2:c.816A>C, XM_011524436.1:c.816A>C, NR_147886.1:n.1407T>G

                                    18.

                                    rs1471039015 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->GATA [Show Flanks]
                                      Chromosome:
                                      17:62736554 (GRCh38)
                                      17:60813916 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:62736554::GATA
                                      Gene:
                                      MARCHF10 (Varview), LOC105371855 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      GATA=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000017.11:g.62736554_62736555insGATA, NC_000017.10:g.60813915_60813916insGATA, XR_934406.4:n.1682_1683insTATC, XR_934406.3:n.1714_1715insTATC, XR_934406.2:n.1711_1712insTATC, XR_934406.1:n.1711_1712insTATC, XM_005257095.4:c.1427_1428insTATC, XM_005257095.3:c.1427_1428insTATC, XM_005257095.2:c.1427_1428insTATC, XM_005257095.1:c.1427_1428insTATC, XM_005257098.4:c.1424_1425insTATC, XM_005257098.3:c.1424_1425insTATC, XM_005257098.2:c.1424_1425insTATC, XM_005257098.1:c.1424_1425insTATC, NM_152598.4:c.1313_1314insTATC, NM_152598.3:c.1313_1314insTATC, NM_152598.2:c.1313_1314insTATC, XM_005257100.4:c.1313_1314insTATC, XM_005257100.3:c.1313_1314insTATC, XM_005257100.2:c.1313_1314insTATC, XM_005257100.1:c.1313_1314insTATC, XM_005257102.4:c.1310_1311insTATC, XM_005257102.3:c.1310_1311insTATC, XM_005257102.2:c.1310_1311insTATC, XM_005257102.1:c.1310_1311insTATC, XM_005257106.4:c.1094_1095insTATC, XM_005257106.3:c.1094_1095insTATC, XM_005257106.2:c.1094_1095insTATC, XM_005257106.1:c.1094_1095insTATC, XM_005257097.3:c.1427_1428insTATC, XM_005257097.2:c.1427_1428insTATC, XM_005257097.1:c.1427_1428insTATC, XM_005257103.3:c.1310_1311insTATC, XM_005257103.2:c.1310_1311insTATC, XM_005257103.1:c.1310_1311insTATC, XM_011524437.3:c.1310_1311insTATC, XM_011524437.2:c.1310_1311insTATC, XM_011524437.1:c.1310_1311insTATC, XM_011524435.3:c.1424_1425insTATC, XM_011524435.2:c.1424_1425insTATC, XM_011524435.1:c.1424_1425insTATC, XM_005257096.3:c.1427_1428insTATC, XM_005257096.2:c.1427_1428insTATC, XM_005257096.1:c.1427_1428insTATC, NM_001100875.3:c.1313_1314insTATC, NM_001100875.2:c.1313_1314insTATC, NM_001100875.1:c.1313_1314insTATC, NM_001288780.2:c.1310_1311insTATC, NM_001288780.1:c.1310_1311insTATC, NM_001288779.2:c.1427_1428insTATC, NM_001288779.1:c.1427_1428insTATC, XM_011524436.2:c.1313_1314insTATC, XM_011524436.1:c.1313_1314insTATC, NR_147886.1:n.909_910insGATA, XP_005257152.2:p.Tyr477fs, XP_005257155.2:p.Tyr476fs, NP_689811.2:p.Tyr439fs, XP_005257157.2:p.Tyr439fs, XP_005257159.2:p.Tyr438fs, XP_005257163.2:p.Tyr366fs, XP_005257154.2:p.Tyr477fs, XP_005257160.1:p.Tyr438fs, XP_011522739.1:p.Tyr438fs, XP_011522737.1:p.Tyr476fs, XP_005257153.2:p.Tyr477fs, NP_001094345.1:p.Tyr439fs, NP_001275709.1:p.Tyr438fs, NP_001275708.1:p.Tyr477fs, XP_011522738.1:p.Tyr439fs

                                      19.

                                      rs1470700352 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:62722583 (GRCh38)
                                        17:60799944 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:62722582:C:T
                                        Gene:
                                        MARCHF10 (Varview), LOC105371855 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.62722583C>T, NC_000017.10:g.60799944C>T, XR_934406.4:n.2488G>A, XR_934406.3:n.2520G>A, XR_934406.2:n.2517G>A, XR_934406.1:n.2517G>A, XM_005257095.4:c.2233G>A, XM_005257095.3:c.2233G>A, XM_005257095.2:c.2233G>A, XM_005257095.1:c.2233G>A, XM_005257098.4:c.2230G>A, XM_005257098.3:c.2230G>A, XM_005257098.2:c.2230G>A, XM_005257098.1:c.2230G>A, NM_152598.4:c.2119G>A, NM_152598.3:c.2119G>A, NM_152598.2:c.2119G>A, XM_005257100.4:c.2119G>A, XM_005257100.3:c.2119G>A, XM_005257100.2:c.2119G>A, XM_005257100.1:c.2119G>A, XM_005257102.4:c.2116G>A, XM_005257102.3:c.2116G>A, XM_005257102.2:c.2116G>A, XM_005257102.1:c.2116G>A, XM_005257106.4:c.1900G>A, XM_005257106.3:c.1900G>A, XM_005257106.2:c.1900G>A, XM_005257106.1:c.1900G>A, XM_005257097.3:c.2233G>A, XM_005257097.2:c.2233G>A, XM_005257097.1:c.2233G>A, XM_005257103.3:c.2116G>A, XM_005257103.2:c.2116G>A, XM_005257103.1:c.2116G>A, XM_011524437.3:c.2116G>A, XM_011524437.2:c.2116G>A, XM_011524437.1:c.2116G>A, XM_011524435.3:c.2230G>A, XM_011524435.2:c.2230G>A, XM_011524435.1:c.2230G>A, XM_005257096.3:c.2233G>A, XM_005257096.2:c.2233G>A, XM_005257096.1:c.2233G>A, NM_001100875.3:c.2119G>A, NM_001100875.2:c.2119G>A, NM_001100875.1:c.2119G>A, NM_001288780.2:c.2116G>A, NM_001288780.1:c.2116G>A, NM_001288779.2:c.2233G>A, NM_001288779.1:c.2233G>A, XM_011524436.2:c.2119G>A, XM_011524436.1:c.2119G>A, XP_005257152.2:p.Ala745Thr, XP_005257155.2:p.Ala744Thr, NP_689811.2:p.Ala707Thr, XP_005257157.2:p.Ala707Thr, XP_005257159.2:p.Ala706Thr, XP_005257163.2:p.Ala634Thr, XP_005257154.2:p.Ala745Thr, XP_005257160.1:p.Ala706Thr, XP_011522739.1:p.Ala706Thr, XP_011522737.1:p.Ala744Thr, XP_005257153.2:p.Ala745Thr, NP_001094345.1:p.Ala707Thr, NP_001275709.1:p.Ala706Thr, NP_001275708.1:p.Ala745Thr, XP_011522738.1:p.Ala707Thr

                                        20.

                                        rs1469747333 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          17:62801660 (GRCh38)
                                          17:60879021 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:62801659:C:A,NC_000017.11:62801659:C:T
                                          Gene:
                                          MARCHF10 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000066/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000017.11:g.62801660C>A, NC_000017.11:g.62801660C>T, NC_000017.10:g.60879021C>A, NC_000017.10:g.60879021C>T, XR_934406.4:n.331G>T, XR_934406.4:n.331G>A, XR_934406.3:n.363G>T, XR_934406.3:n.363G>A, XR_934406.2:n.360G>T, XR_934406.2:n.360G>A, XR_934406.1:n.360G>T, XR_934406.1:n.360G>A, XM_005257095.4:c.76G>T, XM_005257095.4:c.76G>A, XM_005257095.3:c.76G>T, XM_005257095.3:c.76G>A, XM_005257095.2:c.76G>T, XM_005257095.2:c.76G>A, XM_005257095.1:c.76G>T, XM_005257095.1:c.76G>A, XM_005257098.4:c.76G>T, XM_005257098.4:c.76G>A, XM_005257098.3:c.76G>T, XM_005257098.3:c.76G>A, XM_005257098.2:c.76G>T, XM_005257098.2:c.76G>A, XM_005257098.1:c.76G>T, XM_005257098.1:c.76G>A, NM_152598.4:c.76G>T, NM_152598.4:c.76G>A, NM_152598.3:c.76G>T, NM_152598.3:c.76G>A, NM_152598.2:c.76G>T, NM_152598.2:c.76G>A, XM_005257100.4:c.76G>T, XM_005257100.4:c.76G>A, XM_005257100.3:c.76G>T, XM_005257100.3:c.76G>A, XM_005257100.2:c.76G>T, XM_005257100.2:c.76G>A, XM_005257100.1:c.76G>T, XM_005257100.1:c.76G>A, XM_005257102.4:c.76G>T, XM_005257102.4:c.76G>A, XM_005257102.3:c.76G>T, XM_005257102.3:c.76G>A, XM_005257102.2:c.76G>T, XM_005257102.2:c.76G>A, XM_005257102.1:c.76G>T, XM_005257102.1:c.76G>A, XM_005257097.3:c.76G>T, XM_005257097.3:c.76G>A, XM_005257097.2:c.76G>T, XM_005257097.2:c.76G>A, XM_005257097.1:c.76G>T, XM_005257097.1:c.76G>A, XM_005257103.3:c.76G>T, XM_005257103.3:c.76G>A, XM_005257103.2:c.76G>T, XM_005257103.2:c.76G>A, XM_005257103.1:c.76G>T, XM_005257103.1:c.76G>A, XM_011524437.3:c.76G>T, XM_011524437.3:c.76G>A, XM_011524437.2:c.76G>T, XM_011524437.2:c.76G>A, XM_011524437.1:c.76G>T, XM_011524437.1:c.76G>A, XM_011524435.3:c.76G>T, XM_011524435.3:c.76G>A, XM_011524435.2:c.76G>T, XM_011524435.2:c.76G>A, XM_011524435.1:c.76G>T, XM_011524435.1:c.76G>A, XM_005257096.3:c.76G>T, XM_005257096.3:c.76G>A, XM_005257096.2:c.76G>T, XM_005257096.2:c.76G>A, XM_005257096.1:c.76G>T, XM_005257096.1:c.76G>A, NM_001100875.3:c.76G>T, NM_001100875.3:c.76G>A, NM_001100875.2:c.76G>T, NM_001100875.2:c.76G>A, NM_001100875.1:c.76G>T, NM_001100875.1:c.76G>A, NM_001288780.2:c.76G>T, NM_001288780.2:c.76G>A, NM_001288780.1:c.76G>T, NM_001288780.1:c.76G>A, NM_001288779.2:c.76G>T, NM_001288779.2:c.76G>A, NM_001288779.1:c.76G>T, NM_001288779.1:c.76G>A, XM_011524436.2:c.76G>T, XM_011524436.2:c.76G>A, XM_011524436.1:c.76G>T, XM_011524436.1:c.76G>A, XP_005257152.2:p.Asp26Tyr, XP_005257152.2:p.Asp26Asn, XP_005257155.2:p.Asp26Tyr, XP_005257155.2:p.Asp26Asn, NP_689811.2:p.Asp26Tyr, NP_689811.2:p.Asp26Asn, XP_005257157.2:p.Asp26Tyr, XP_005257157.2:p.Asp26Asn, XP_005257159.2:p.Asp26Tyr, XP_005257159.2:p.Asp26Asn, XP_005257154.2:p.Asp26Tyr, XP_005257154.2:p.Asp26Asn, XP_005257160.1:p.Asp26Tyr, XP_005257160.1:p.Asp26Asn, XP_011522739.1:p.Asp26Tyr, XP_011522739.1:p.Asp26Asn, XP_011522737.1:p.Asp26Tyr, XP_011522737.1:p.Asp26Asn, XP_005257153.2:p.Asp26Tyr, XP_005257153.2:p.Asp26Asn, NP_001094345.1:p.Asp26Tyr, NP_001094345.1:p.Asp26Asn, NP_001275709.1:p.Asp26Tyr, NP_001275709.1:p.Asp26Asn, NP_001275708.1:p.Asp26Tyr, NP_001275708.1:p.Asp26Asn, XP_011522738.1:p.Asp26Tyr, XP_011522738.1:p.Asp26Asn

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