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Items: 1 to 20 of 1000

1.

rs1490953415 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    16:15634848 (GRCh38)
    16:15728705 (GRCh37)
    Canonical SPDI:
    NC_000016.10:15634847:G:C
    Gene:
    MARF1 (Varview), LOC124903649 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000111/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.15634848G>C, NC_000016.9:g.15728705G>C, NG_021407.1:g.13319C>G, NM_014647.4:c.915C>G, NM_014647.3:c.915C>G, NM_001184998.2:c.915C>G, NM_001184998.1:c.915C>G, NM_001184999.2:c.915C>G, NM_001184999.1:c.915C>G, NT_187607.1:g.1292859G>C, XM_017023900.3:c.915C>G, XM_017023900.2:c.915C>G, XM_017023900.1:c.915C>G, XM_017023901.3:c.915C>G, XM_017023901.2:c.915C>G, XM_017023901.1:c.915C>G, XM_005255706.3:c.915C>G, XM_005255706.2:c.915C>G, XM_005255706.1:c.915C>G, XM_005255707.3:c.915C>G, XM_005255707.2:c.915C>G, XM_005255707.1:c.915C>G, XM_017023902.3:c.915C>G, XM_017023902.2:c.915C>G, XM_017023902.1:c.915C>G, XM_017023903.3:c.915C>G, XM_017023903.2:c.915C>G, XM_017023903.1:c.915C>G, XM_017023904.3:c.915C>G, XM_017023904.2:c.915C>G, XM_017023904.1:c.915C>G, XM_017023905.3:c.378C>G, XM_017023905.2:c.378C>G, XM_017023905.1:c.378C>G, XM_017023906.3:c.378C>G, XM_017023906.2:c.378C>G, XM_017023906.1:c.378C>G, NM_019081.2:c.-2073C>G, XM_005255704.2:c.915C>G, XM_005255704.1:c.915C>G, XM_047434938.1:c.915C>G, XM_047434939.1:c.915C>G, XM_047434940.1:c.915C>G, XM_047434942.1:c.915C>G, XM_047434941.1:c.915C>G, XM_047434944.1:c.915C>G, XM_047434943.1:c.915C>G, XM_047434945.1:c.915C>G, XM_047434947.1:c.378C>G, XM_047434946.1:c.378C>G, XM_047434948.1:c.378C>G, XM_047434949.1:c.378C>G, XM_047434950.1:c.378C>G, XM_047434951.1:c.915C>G, XM_047434953.1:c.378C>G, XM_047434954.1:c.378C>G, XM_047434955.1:c.378C>G, XM_047434952.1:c.915C>G

    2.

    rs1490902246 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      16:15630352 (GRCh38)
      16:15724210 (GRCh37)
      Canonical SPDI:
      NC_000016.10:15630352:GGGGGG:GGGGGGG
      Gene:
      MARF1 (Varview)
      Functional Consequence:
      coding_sequence_variant,frameshift_variant
      HGVS:
      NC_000016.10:g.15630358dup, NC_000016.9:g.15724215dup, NG_021407.1:g.17814dup, NM_014647.4:c.1503dup, NM_014647.3:c.1503dup, NM_001184998.2:c.1503dup, NM_001184998.1:c.1503dup, NM_001184999.2:c.1494dup, NM_001184999.1:c.1494dup, NT_187607.1:g.1288371dup, XM_017023900.3:c.1503dup, XM_017023900.2:c.1503dup, XM_017023900.1:c.1503dup, XM_017023901.3:c.1503dup, XM_017023901.2:c.1503dup, XM_017023901.1:c.1503dup, XM_005255706.3:c.1503dup, XM_005255706.2:c.1503dup, XM_005255706.1:c.1503dup, XM_005255707.3:c.1503dup, XM_005255707.2:c.1503dup, XM_005255707.1:c.1503dup, XM_017023902.3:c.1503dup, XM_017023902.2:c.1503dup, XM_017023902.1:c.1503dup, XM_017023903.3:c.1503dup, XM_017023903.2:c.1503dup, XM_017023903.1:c.1503dup, XM_017023904.3:c.1503dup, XM_017023904.2:c.1503dup, XM_017023904.1:c.1503dup, XM_017023905.3:c.966dup, XM_017023905.2:c.966dup, XM_017023905.1:c.966dup, XM_017023906.3:c.966dup, XM_017023906.2:c.966dup, XM_017023906.1:c.966dup, NM_019081.2:c.-1485dup, XM_005255704.2:c.1503dup, XM_005255704.1:c.1503dup, XM_047434938.1:c.1503dup, XM_047434939.1:c.1503dup, XM_047434940.1:c.1503dup, XM_047434941.1:c.1503dup, XM_047434944.1:c.1503dup, XM_047434943.1:c.1503dup, XM_047434945.1:c.1503dup, XM_047434947.1:c.966dup, XM_047434946.1:c.966dup, XM_047434949.1:c.966dup, XM_047434950.1:c.966dup, XM_047434951.1:c.1503dup, XM_047434953.1:c.966dup, XM_047434954.1:c.966dup, XM_047434955.1:c.966dup, NM_019081.1:c.276dup, XM_047434952.1:c.1503dup, XM_047434942.1:c.1503dup, XM_047434948.1:c.966dup, NP_055462.2:p.Arg502fs, NP_001171927.1:p.Arg502fs, NP_001171928.1:p.Arg499fs, XP_016879389.1:p.Arg502fs, XP_016879390.1:p.Arg502fs, XP_005255763.1:p.Arg502fs, XP_005255764.1:p.Arg502fs, XP_016879391.1:p.Arg502fs, XP_016879392.1:p.Arg502fs, XP_016879393.1:p.Arg502fs, XP_016879394.1:p.Arg323fs, XP_016879395.1:p.Arg323fs, XP_005255761.1:p.Arg502fs, XP_047290894.1:p.Arg502fs, XP_047290895.1:p.Arg502fs, XP_047290896.1:p.Arg502fs, XP_047290897.1:p.Arg502fs, XP_047290900.1:p.Arg502fs, XP_047290899.1:p.Arg502fs, XP_047290901.1:p.Arg502fs, XP_047290903.1:p.Arg323fs, XP_047290902.1:p.Arg323fs, XP_047290905.1:p.Arg323fs, XP_047290906.1:p.Arg323fs, XP_047290907.1:p.Arg502fs, XP_047290909.1:p.Arg323fs, XP_047290910.1:p.Arg323fs, XP_047290911.1:p.Arg323fs, XP_047290908.1:p.Arg502fs, XP_047290898.1:p.Arg502fs, XP_047290904.1:p.Arg323fs

      3.

      rs1489563225 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        16:15598953 (GRCh38)
        16:15692810 (GRCh37)
        Canonical SPDI:
        NC_000016.10:15598952:C:G
        Gene:
        MARF1 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000016.10:g.15598953C>G, NC_000016.9:g.15692810C>G, NG_021407.1:g.49214G>C, NM_014647.4:c.4885G>C, NM_014647.3:c.4885G>C, NM_001184998.2:c.4885G>C, NM_001184998.1:c.4885G>C, NM_001184999.2:c.4876G>C, NM_001184999.1:c.4876G>C, NT_187607.1:g.1256944C>G, XM_017023900.3:c.4888G>C, XM_017023900.2:c.4888G>C, XM_017023900.1:c.4888G>C, XM_017023901.3:c.4885G>C, XM_017023901.2:c.4885G>C, XM_017023901.1:c.4885G>C, XM_005255706.3:c.4882G>C, XM_005255706.2:c.4882G>C, XM_005255706.1:c.4882G>C, XM_005255707.3:c.4858G>C, XM_005255707.2:c.4858G>C, XM_005255707.1:c.4858G>C, XM_017023902.3:c.4726G>C, XM_017023902.2:c.4726G>C, XM_017023902.1:c.4726G>C, XM_017023903.3:c.4459G>C, XM_017023903.2:c.4459G>C, XM_017023903.1:c.4459G>C, XM_017023904.3:c.4456G>C, XM_017023904.2:c.4456G>C, XM_017023904.1:c.4456G>C, XM_017023905.3:c.4351G>C, XM_017023905.2:c.4351G>C, XM_017023905.1:c.4351G>C, XM_017023906.3:c.4348G>C, XM_017023906.2:c.4348G>C, XM_017023906.1:c.4348G>C, XM_005255704.2:c.4888G>C, XM_005255704.1:c.4888G>C, NM_019081.2:c.1402G>C, XM_047434938.1:c.4885G>C, XM_047434939.1:c.4882G>C, XM_047434942.1:c.4855G>C, XM_047434941.1:c.4855G>C, XM_047434944.1:c.4723G>C, XM_047434943.1:c.4723G>C, XM_047434945.1:c.4429G>C, XM_047434947.1:c.4348G>C, XM_047434946.1:c.4348G>C, XM_047434948.1:c.4345G>C, XM_047434949.1:c.4321G>C, XM_047434950.1:c.4318G>C, XM_047434951.1:c.4297G>C, XM_047434953.1:c.4189G>C, XM_047434954.1:c.3922G>C, NM_019081.1:c.3256G>C, XM_047434955.1:c.3892G>C, XM_047434940.1:c.4858G>C, NP_055462.2:p.Val1629Leu, NP_001171927.1:p.Val1629Leu, NP_001171928.1:p.Val1626Leu, XP_016879389.1:p.Val1630Leu, XP_016879390.1:p.Val1629Leu, XP_005255763.1:p.Val1628Leu, XP_005255764.1:p.Val1620Leu, XP_016879391.1:p.Val1576Leu, XP_016879392.1:p.Val1487Leu, XP_016879393.1:p.Val1486Leu, XP_016879394.1:p.Val1451Leu, XP_016879395.1:p.Val1450Leu, XP_005255761.1:p.Val1630Leu, XP_047290894.1:p.Val1629Leu, XP_047290895.1:p.Val1628Leu, XP_047290898.1:p.Val1619Leu, XP_047290897.1:p.Val1619Leu, XP_047290900.1:p.Val1575Leu, XP_047290899.1:p.Val1575Leu, XP_047290901.1:p.Val1477Leu, XP_047290903.1:p.Val1450Leu, XP_047290902.1:p.Val1450Leu, XP_047290904.1:p.Val1449Leu, XP_047290905.1:p.Val1441Leu, XP_047290906.1:p.Val1440Leu, XP_047290907.1:p.Val1433Leu, XP_047290909.1:p.Val1397Leu, XP_047290910.1:p.Val1308Leu, XP_047290911.1:p.Val1298Leu, XP_047290896.1:p.Val1620Leu

        4.

        rs1489186615 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:15639090 (GRCh38)
          16:15732947 (GRCh37)
          Canonical SPDI:
          NC_000016.10:15639089:C:T
          Gene:
          MARF1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by cluster
          HGVS:
          NC_000016.10:g.15639090C>T, NC_000016.9:g.15732947C>T, NG_021210.1:g.824C>T, NG_021407.1:g.9077G>A, NM_014647.4:c.144G>A, NM_014647.3:c.144G>A, NM_001184998.2:c.144G>A, NM_001184998.1:c.144G>A, NM_001184999.2:c.144G>A, NM_001184999.1:c.144G>A, NT_187607.1:g.1297101C>T, XM_017023900.3:c.144G>A, XM_017023900.2:c.144G>A, XM_017023900.1:c.144G>A, XM_017023901.3:c.144G>A, XM_017023901.2:c.144G>A, XM_017023901.1:c.144G>A, XM_005255706.3:c.144G>A, XM_005255706.2:c.144G>A, XM_005255706.1:c.144G>A, XM_005255707.3:c.144G>A, XM_005255707.2:c.144G>A, XM_005255707.1:c.144G>A, XM_017023902.3:c.144G>A, XM_017023902.2:c.144G>A, XM_017023902.1:c.144G>A, XM_017023903.3:c.144G>A, XM_017023903.2:c.144G>A, XM_017023903.1:c.144G>A, XM_017023904.3:c.144G>A, XM_017023904.2:c.144G>A, XM_017023904.1:c.144G>A, XM_017023905.3:c.144G>A, XM_017023905.2:c.144G>A, XM_017023905.1:c.144G>A, XM_017023906.3:c.144G>A, XM_017023906.2:c.144G>A, XM_017023906.1:c.144G>A, XM_005255704.2:c.144G>A, XM_005255704.1:c.144G>A, NM_019081.2:c.-2844G>A, XM_047434939.1:c.144G>A, XM_047434940.1:c.144G>A, XM_047434941.1:c.144G>A, XM_047434943.1:c.144G>A, XM_047434945.1:c.144G>A, XM_047434947.1:c.144G>A, XM_047434949.1:c.144G>A, XM_047434950.1:c.144G>A, XM_047434955.1:c.144G>A, XM_047434952.1:c.144G>A, XM_047434944.1:c.144G>A, XM_047434951.1:c.144G>A, XM_047434954.1:c.144G>A, XM_047434938.1:c.144G>A, XM_047434953.1:c.144G>A, XM_047434942.1:c.144G>A, XM_047434946.1:c.144G>A, XM_047434948.1:c.144G>A

          5.

          rs1488868104 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            16:15604207 (GRCh38)
            16:15698064 (GRCh37)
            Canonical SPDI:
            NC_000016.10:15604206:G:C
            Gene:
            MARF1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.15604207G>C, NC_000016.9:g.15698064G>C, NG_021407.1:g.43960C>G, NM_014647.4:c.4374C>G, NM_014647.3:c.4374C>G, NM_001184998.2:c.4374C>G, NM_001184998.1:c.4374C>G, NM_001184999.2:c.4365C>G, NM_001184999.1:c.4365C>G, NT_187607.1:g.1262221G>C, XM_017023900.3:c.4377C>G, XM_017023900.2:c.4377C>G, XM_017023900.1:c.4377C>G, XM_017023901.3:c.4374C>G, XM_017023901.2:c.4374C>G, XM_017023901.1:c.4374C>G, XM_005255706.3:c.4371C>G, XM_005255706.2:c.4371C>G, XM_005255706.1:c.4371C>G, XM_005255707.3:c.4347C>G, XM_005255707.2:c.4347C>G, XM_005255707.1:c.4347C>G, XM_017023902.3:c.4215C>G, XM_017023902.2:c.4215C>G, XM_017023902.1:c.4215C>G, XM_017023903.3:c.3948C>G, XM_017023903.2:c.3948C>G, XM_017023903.1:c.3948C>G, XM_017023904.3:c.3945C>G, XM_017023904.2:c.3945C>G, XM_017023904.1:c.3945C>G, XM_017023905.3:c.3840C>G, XM_017023905.2:c.3840C>G, XM_017023905.1:c.3840C>G, XM_017023906.3:c.3837C>G, XM_017023906.2:c.3837C>G, XM_017023906.1:c.3837C>G, NM_019081.2:c.891C>G, XM_005255704.2:c.4377C>G, XM_005255704.1:c.4377C>G, XM_047434938.1:c.4374C>G, XM_047434939.1:c.4371C>G, XM_047434940.1:c.4347C>G, XM_047434941.1:c.4344C>G, XM_047434944.1:c.4212C>G, XM_047434943.1:c.4212C>G, XM_047434945.1:c.3918C>G, XM_047434947.1:c.3837C>G, XM_047434946.1:c.3837C>G, XM_047434949.1:c.3810C>G, XM_047434950.1:c.3807C>G, XM_047434951.1:c.3786C>G, XM_047434953.1:c.3678C>G, XM_047434954.1:c.3411C>G, XM_047434955.1:c.3381C>G, NM_019081.1:c.2487C>G, XM_047434952.1:c.4377C>G, XM_047434942.1:c.4344C>G, XM_047434948.1:c.3834C>G

            6.

            rs1486688518 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              16:15635761 (GRCh38)
              16:15729618 (GRCh37)
              Canonical SPDI:
              NC_000016.10:15635760:T:C
              Gene:
              MARF1 (Varview), LOC124903649 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.15635761T>C, NC_000016.9:g.15729618T>C, NG_021407.1:g.12406A>G, NM_014647.4:c.726A>G, NM_014647.3:c.726A>G, NM_001184998.2:c.726A>G, NM_001184998.1:c.726A>G, NM_001184999.2:c.726A>G, NM_001184999.1:c.726A>G, NT_187607.1:g.1293772T>C, XM_017023900.3:c.726A>G, XM_017023900.2:c.726A>G, XM_017023900.1:c.726A>G, XM_017023901.3:c.726A>G, XM_017023901.2:c.726A>G, XM_017023901.1:c.726A>G, XM_005255706.3:c.726A>G, XM_005255706.2:c.726A>G, XM_005255706.1:c.726A>G, XM_005255707.3:c.726A>G, XM_005255707.2:c.726A>G, XM_005255707.1:c.726A>G, XM_017023902.3:c.726A>G, XM_017023902.2:c.726A>G, XM_017023902.1:c.726A>G, XM_017023903.3:c.726A>G, XM_017023903.2:c.726A>G, XM_017023903.1:c.726A>G, XM_017023904.3:c.726A>G, XM_017023904.2:c.726A>G, XM_017023904.1:c.726A>G, NM_019081.2:c.-2262A>G, XM_005255704.2:c.726A>G, XM_005255704.1:c.726A>G, XM_047434938.1:c.726A>G, XM_047434939.1:c.726A>G, XM_047434940.1:c.726A>G, XM_047434942.1:c.726A>G, XM_047434941.1:c.726A>G, XM_047434944.1:c.726A>G, XM_047434943.1:c.726A>G, XM_047434945.1:c.726A>G, XM_047434951.1:c.726A>G, XM_047434952.1:c.726A>G, XR_007065003.1:n.506T>C, XR_007068668.1:n.506T>C

              7.

              rs1486057575 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:15620470 (GRCh38)
                16:15714327 (GRCh37)
                Canonical SPDI:
                NC_000016.10:15620469:T:C
                Gene:
                MARF1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000016.10:g.15620470T>C, NC_000016.9:g.15714327T>C, NG_021407.1:g.27697A>G, NM_014647.4:c.2701A>G, NM_014647.3:c.2701A>G, NM_001184998.2:c.2701A>G, NM_001184998.1:c.2701A>G, NM_001184999.2:c.2692A>G, NM_001184999.1:c.2692A>G, NT_187607.1:g.1278483T>C, XM_017023900.3:c.2704A>G, XM_017023900.2:c.2704A>G, XM_017023900.1:c.2704A>G, XM_017023901.3:c.2701A>G, XM_017023901.2:c.2701A>G, XM_017023901.1:c.2701A>G, XM_005255706.3:c.2698A>G, XM_005255706.2:c.2698A>G, XM_005255706.1:c.2698A>G, XM_005255707.3:c.2674A>G, XM_005255707.2:c.2674A>G, XM_005255707.1:c.2674A>G, XM_017023902.3:c.2542A>G, XM_017023902.2:c.2542A>G, XM_017023902.1:c.2542A>G, XM_017023903.3:c.2275A>G, XM_017023903.2:c.2275A>G, XM_017023903.1:c.2275A>G, XM_017023904.3:c.2272A>G, XM_017023904.2:c.2272A>G, XM_017023904.1:c.2272A>G, XM_017023905.3:c.2167A>G, XM_017023905.2:c.2167A>G, XM_017023905.1:c.2167A>G, XM_017023906.3:c.2164A>G, XM_017023906.2:c.2164A>G, XM_017023906.1:c.2164A>G, NM_019081.2:c.-782A>G, XM_005255704.2:c.2704A>G, XM_005255704.1:c.2704A>G, XM_047434938.1:c.2701A>G, XM_047434939.1:c.2698A>G, XM_047434940.1:c.2674A>G, XM_047434941.1:c.2671A>G, XM_047434944.1:c.2539A>G, XM_047434943.1:c.2539A>G, XM_047434945.1:c.2245A>G, XM_047434947.1:c.2164A>G, XM_047434946.1:c.2164A>G, XM_047434949.1:c.2137A>G, XM_047434950.1:c.2134A>G, XM_047434951.1:c.2113A>G, XM_047434953.1:c.2005A>G, XM_047434954.1:c.1738A>G, XM_047434955.1:c.1708A>G, XM_047434952.1:c.2704A>G, XM_047434942.1:c.2671A>G, XM_047434948.1:c.2161A>G, NP_055462.2:p.Thr901Ala, NP_001171927.1:p.Thr901Ala, NP_001171928.1:p.Thr898Ala, XP_016879389.1:p.Thr902Ala, XP_016879390.1:p.Thr901Ala, XP_005255763.1:p.Thr900Ala, XP_005255764.1:p.Thr892Ala, XP_016879391.1:p.Thr848Ala, XP_016879392.1:p.Thr759Ala, XP_016879393.1:p.Thr758Ala, XP_016879394.1:p.Thr723Ala, XP_016879395.1:p.Thr722Ala, XP_005255761.1:p.Thr902Ala, XP_047290894.1:p.Thr901Ala, XP_047290895.1:p.Thr900Ala, XP_047290896.1:p.Thr892Ala, XP_047290897.1:p.Thr891Ala, XP_047290900.1:p.Thr847Ala, XP_047290899.1:p.Thr847Ala, XP_047290901.1:p.Thr749Ala, XP_047290903.1:p.Thr722Ala, XP_047290902.1:p.Thr722Ala, XP_047290905.1:p.Thr713Ala, XP_047290906.1:p.Thr712Ala, XP_047290907.1:p.Thr705Ala, XP_047290909.1:p.Thr669Ala, XP_047290910.1:p.Thr580Ala, XP_047290911.1:p.Thr570Ala, XP_047290908.1:p.Thr902Ala, XP_047290898.1:p.Thr891Ala, XP_047290904.1:p.Thr721Ala

                8.

                rs1486026528 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  16:15615907 (GRCh38)
                  16:15709764 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:15615906:C:A,NC_000016.10:15615906:C:T
                  Gene:
                  MARF1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  NC_000016.10:g.15615907C>A, NC_000016.10:g.15615907C>T, NC_000016.9:g.15709764C>A, NC_000016.9:g.15709764C>T, NG_021407.1:g.32260G>T, NG_021407.1:g.32260G>A, NM_014647.4:c.3176G>T, NM_014647.4:c.3176G>A, NM_014647.3:c.3176G>T, NM_014647.3:c.3176G>A, NM_001184998.2:c.3176G>T, NM_001184998.2:c.3176G>A, NM_001184998.1:c.3176G>T, NM_001184998.1:c.3176G>A, NM_001184999.2:c.3167G>T, NM_001184999.2:c.3167G>A, NM_001184999.1:c.3167G>T, NM_001184999.1:c.3167G>A, NT_187607.1:g.1273920C>A, NT_187607.1:g.1273920C>T, XM_017023900.3:c.3179G>T, XM_017023900.3:c.3179G>A, XM_017023900.2:c.3179G>T, XM_017023900.2:c.3179G>A, XM_017023900.1:c.3179G>T, XM_017023900.1:c.3179G>A, XM_017023901.3:c.3176G>T, XM_017023901.3:c.3176G>A, XM_017023901.2:c.3176G>T, XM_017023901.2:c.3176G>A, XM_017023901.1:c.3176G>T, XM_017023901.1:c.3176G>A, XM_005255706.3:c.3173G>T, XM_005255706.3:c.3173G>A, XM_005255706.2:c.3173G>T, XM_005255706.2:c.3173G>A, XM_005255706.1:c.3173G>T, XM_005255706.1:c.3173G>A, XM_005255707.3:c.3149G>T, XM_005255707.3:c.3149G>A, XM_005255707.2:c.3149G>T, XM_005255707.2:c.3149G>A, XM_005255707.1:c.3149G>T, XM_005255707.1:c.3149G>A, XM_017023902.3:c.3017G>T, XM_017023902.3:c.3017G>A, XM_017023902.2:c.3017G>T, XM_017023902.2:c.3017G>A, XM_017023902.1:c.3017G>T, XM_017023902.1:c.3017G>A, XM_017023903.3:c.2750G>T, XM_017023903.3:c.2750G>A, XM_017023903.2:c.2750G>T, XM_017023903.2:c.2750G>A, XM_017023903.1:c.2750G>T, XM_017023903.1:c.2750G>A, XM_017023904.3:c.2747G>T, XM_017023904.3:c.2747G>A, XM_017023904.2:c.2747G>T, XM_017023904.2:c.2747G>A, XM_017023904.1:c.2747G>T, XM_017023904.1:c.2747G>A, XM_017023905.3:c.2642G>T, XM_017023905.3:c.2642G>A, XM_017023905.2:c.2642G>T, XM_017023905.2:c.2642G>A, XM_017023905.1:c.2642G>T, XM_017023905.1:c.2642G>A, XM_017023906.3:c.2639G>T, XM_017023906.3:c.2639G>A, XM_017023906.2:c.2639G>T, XM_017023906.2:c.2639G>A, XM_017023906.1:c.2639G>T, XM_017023906.1:c.2639G>A, NM_019081.2:c.-308G>T, NM_019081.2:c.-308G>A, XM_005255704.2:c.3179G>T, XM_005255704.2:c.3179G>A, XM_005255704.1:c.3179G>T, XM_005255704.1:c.3179G>A, XM_047434938.1:c.3176G>T, XM_047434938.1:c.3176G>A, XM_047434939.1:c.3173G>T, XM_047434939.1:c.3173G>A, XM_047434940.1:c.3149G>T, XM_047434940.1:c.3149G>A, XM_047434941.1:c.3146G>T, XM_047434941.1:c.3146G>A, XM_047434944.1:c.3014G>T, XM_047434944.1:c.3014G>A, XM_047434943.1:c.3014G>T, XM_047434943.1:c.3014G>A, XM_047434945.1:c.2720G>T, XM_047434945.1:c.2720G>A, XM_047434947.1:c.2639G>T, XM_047434947.1:c.2639G>A, XM_047434946.1:c.2639G>T, XM_047434946.1:c.2639G>A, XM_047434949.1:c.2612G>T, XM_047434949.1:c.2612G>A, XM_047434950.1:c.2609G>T, XM_047434950.1:c.2609G>A, XM_047434951.1:c.2588G>T, XM_047434951.1:c.2588G>A, XM_047434953.1:c.2480G>T, XM_047434953.1:c.2480G>A, XM_047434954.1:c.2213G>T, XM_047434954.1:c.2213G>A, XM_047434955.1:c.2183G>T, XM_047434955.1:c.2183G>A, NM_019081.1:c.1289G>T, NM_019081.1:c.1289G>A, XM_047434952.1:c.3179G>T, XM_047434952.1:c.3179G>A, XM_047434942.1:c.3146G>T, XM_047434942.1:c.3146G>A, XM_047434948.1:c.2636G>T, XM_047434948.1:c.2636G>A, NP_055462.2:p.Gly1059Val, NP_055462.2:p.Gly1059Asp, NP_001171927.1:p.Gly1059Val, NP_001171927.1:p.Gly1059Asp, NP_001171928.1:p.Gly1056Val, NP_001171928.1:p.Gly1056Asp, XP_016879389.1:p.Gly1060Val, XP_016879389.1:p.Gly1060Asp, XP_016879390.1:p.Gly1059Val, XP_016879390.1:p.Gly1059Asp, XP_005255763.1:p.Gly1058Val, XP_005255763.1:p.Gly1058Asp, XP_005255764.1:p.Gly1050Val, XP_005255764.1:p.Gly1050Asp, XP_016879391.1:p.Gly1006Val, XP_016879391.1:p.Gly1006Asp, XP_016879392.1:p.Gly917Val, XP_016879392.1:p.Gly917Asp, XP_016879393.1:p.Gly916Val, XP_016879393.1:p.Gly916Asp, XP_016879394.1:p.Gly881Val, XP_016879394.1:p.Gly881Asp, XP_016879395.1:p.Gly880Val, XP_016879395.1:p.Gly880Asp, XP_005255761.1:p.Gly1060Val, XP_005255761.1:p.Gly1060Asp, XP_047290894.1:p.Gly1059Val, XP_047290894.1:p.Gly1059Asp, XP_047290895.1:p.Gly1058Val, XP_047290895.1:p.Gly1058Asp, XP_047290896.1:p.Gly1050Val, XP_047290896.1:p.Gly1050Asp, XP_047290897.1:p.Gly1049Val, XP_047290897.1:p.Gly1049Asp, XP_047290900.1:p.Gly1005Val, XP_047290900.1:p.Gly1005Asp, XP_047290899.1:p.Gly1005Val, XP_047290899.1:p.Gly1005Asp, XP_047290901.1:p.Gly907Val, XP_047290901.1:p.Gly907Asp, XP_047290903.1:p.Gly880Val, XP_047290903.1:p.Gly880Asp, XP_047290902.1:p.Gly880Val, XP_047290902.1:p.Gly880Asp, XP_047290905.1:p.Gly871Val, XP_047290905.1:p.Gly871Asp, XP_047290906.1:p.Gly870Val, XP_047290906.1:p.Gly870Asp, XP_047290907.1:p.Gly863Val, XP_047290907.1:p.Gly863Asp, XP_047290909.1:p.Gly827Val, XP_047290909.1:p.Gly827Asp, XP_047290910.1:p.Gly738Val, XP_047290910.1:p.Gly738Asp, XP_047290911.1:p.Gly728Val, XP_047290911.1:p.Gly728Asp, XP_047290908.1:p.Gly1060Val, XP_047290908.1:p.Gly1060Asp, XP_047290898.1:p.Gly1049Val, XP_047290898.1:p.Gly1049Asp, XP_047290904.1:p.Gly879Val, XP_047290904.1:p.Gly879Asp

                  9.

                  rs1485183835 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    16:15625538 (GRCh38)
                    16:15719395 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:15625537:T:C
                    Gene:
                    MARF1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000016.10:g.15625538T>C, NC_000016.9:g.15719395T>C, NG_021407.1:g.22629A>G, NM_014647.4:c.1787A>G, NM_014647.3:c.1787A>G, NM_001184998.2:c.1784A>G, NM_001184998.1:c.1784A>G, NM_001184999.2:c.1778A>G, NM_001184999.1:c.1778A>G, NT_187607.1:g.1283551T>C, XM_017023900.3:c.1787A>G, XM_017023900.2:c.1787A>G, XM_017023900.1:c.1787A>G, XM_017023901.3:c.1784A>G, XM_017023901.2:c.1784A>G, XM_017023901.1:c.1784A>G, XM_005255706.3:c.1784A>G, XM_005255706.2:c.1784A>G, XM_005255706.1:c.1784A>G, XM_005255707.3:c.1787A>G, XM_005255707.2:c.1787A>G, XM_005255707.1:c.1787A>G, XM_017023902.3:c.1787A>G, XM_017023902.2:c.1787A>G, XM_017023902.1:c.1787A>G, XM_017023905.3:c.1250A>G, XM_017023905.2:c.1250A>G, XM_017023905.1:c.1250A>G, XM_017023906.3:c.1250A>G, XM_017023906.2:c.1250A>G, XM_017023906.1:c.1250A>G, XM_005255704.2:c.1787A>G, XM_005255704.1:c.1787A>G, XM_047434938.1:c.1787A>G, XM_047434939.1:c.1784A>G, XM_047434940.1:c.1787A>G, XM_047434941.1:c.1784A>G, XM_047434944.1:c.1784A>G, XM_047434943.1:c.1784A>G, XM_047434947.1:c.1250A>G, XM_047434946.1:c.1247A>G, XM_047434949.1:c.1250A>G, XM_047434950.1:c.1247A>G, XM_047434953.1:c.1250A>G, XM_047434952.1:c.1787A>G, XM_047434942.1:c.1784A>G, XM_047434948.1:c.1247A>G, NP_055462.2:p.Asn596Ser, NP_001171927.1:p.Asn595Ser, NP_001171928.1:p.Asn593Ser, XP_016879389.1:p.Asn596Ser, XP_016879390.1:p.Asn595Ser, XP_005255763.1:p.Asn595Ser, XP_005255764.1:p.Asn596Ser, XP_016879391.1:p.Asn596Ser, XP_016879394.1:p.Asn417Ser, XP_016879395.1:p.Asn417Ser, XP_005255761.1:p.Asn596Ser, XP_047290894.1:p.Asn596Ser, XP_047290895.1:p.Asn595Ser, XP_047290896.1:p.Asn596Ser, XP_047290897.1:p.Asn595Ser, XP_047290900.1:p.Asn595Ser, XP_047290899.1:p.Asn595Ser, XP_047290903.1:p.Asn417Ser, XP_047290902.1:p.Asn416Ser, XP_047290905.1:p.Asn417Ser, XP_047290906.1:p.Asn416Ser, XP_047290909.1:p.Asn417Ser, XP_047290908.1:p.Asn596Ser, XP_047290898.1:p.Asn595Ser, XP_047290904.1:p.Asn416Ser

                    10.

                    rs1484460899 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:15602183 (GRCh38)
                      16:15696040 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:15602182:C:T
                      Gene:
                      MARF1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.15602183C>T, NC_000016.9:g.15696040C>T, NG_021407.1:g.45984G>A, NM_014647.4:c.4434G>A, NM_014647.3:c.4434G>A, NM_001184998.2:c.4434G>A, NM_001184998.1:c.4434G>A, NM_001184999.2:c.4425G>A, NM_001184999.1:c.4425G>A, NT_187607.1:g.1260174C>T, XM_017023900.3:c.4437G>A, XM_017023900.2:c.4437G>A, XM_017023900.1:c.4437G>A, XM_017023901.3:c.4434G>A, XM_017023901.2:c.4434G>A, XM_017023901.1:c.4434G>A, XM_005255706.3:c.4431G>A, XM_005255706.2:c.4431G>A, XM_005255706.1:c.4431G>A, XM_005255707.3:c.4407G>A, XM_005255707.2:c.4407G>A, XM_005255707.1:c.4407G>A, XM_017023902.3:c.4275G>A, XM_017023902.2:c.4275G>A, XM_017023902.1:c.4275G>A, XM_017023903.3:c.4008G>A, XM_017023903.2:c.4008G>A, XM_017023903.1:c.4008G>A, XM_017023904.3:c.4005G>A, XM_017023904.2:c.4005G>A, XM_017023904.1:c.4005G>A, XM_017023905.3:c.3900G>A, XM_017023905.2:c.3900G>A, XM_017023905.1:c.3900G>A, XM_017023906.3:c.3897G>A, XM_017023906.2:c.3897G>A, XM_017023906.1:c.3897G>A, NM_019081.2:c.951G>A, XM_005255704.2:c.4437G>A, XM_005255704.1:c.4437G>A, XM_047434938.1:c.4434G>A, XM_047434939.1:c.4431G>A, XM_047434940.1:c.4407G>A, XM_047434941.1:c.4404G>A, XM_047434944.1:c.4272G>A, XM_047434943.1:c.4272G>A, XM_047434945.1:c.3978G>A, XM_047434947.1:c.3897G>A, XM_047434946.1:c.3897G>A, XM_047434949.1:c.3870G>A, XM_047434950.1:c.3867G>A, XM_047434951.1:c.3846G>A, XM_047434953.1:c.3738G>A, XM_047434954.1:c.3471G>A, XM_047434955.1:c.3441G>A, NM_019081.1:c.2790G>A, XM_047434952.1:c.4437G>A, XM_047434942.1:c.4404G>A, XM_047434948.1:c.3894G>A, NP_055462.2:p.Met1478Ile, NP_001171927.1:p.Met1478Ile, NP_001171928.1:p.Met1475Ile, XP_016879389.1:p.Met1479Ile, XP_016879390.1:p.Met1478Ile, XP_005255763.1:p.Met1477Ile, XP_005255764.1:p.Met1469Ile, XP_016879391.1:p.Met1425Ile, XP_016879392.1:p.Met1336Ile, XP_016879393.1:p.Met1335Ile, XP_016879394.1:p.Met1300Ile, XP_016879395.1:p.Met1299Ile, XP_005255761.1:p.Met1479Ile, XP_047290894.1:p.Met1478Ile, XP_047290895.1:p.Met1477Ile, XP_047290896.1:p.Met1469Ile, XP_047290897.1:p.Met1468Ile, XP_047290900.1:p.Met1424Ile, XP_047290899.1:p.Met1424Ile, XP_047290901.1:p.Met1326Ile, XP_047290903.1:p.Met1299Ile, XP_047290902.1:p.Met1299Ile, XP_047290905.1:p.Met1290Ile, XP_047290906.1:p.Met1289Ile, XP_047290907.1:p.Met1282Ile, XP_047290909.1:p.Met1246Ile, XP_047290910.1:p.Met1157Ile, XP_047290911.1:p.Met1147Ile, XP_047290908.1:p.Met1479Ile, XP_047290898.1:p.Met1468Ile, XP_047290904.1:p.Met1298Ile

                      11.

                      rs1483682304 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        16:15636317 (GRCh38)
                        16:15730174 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:15636316:A:G
                        Gene:
                        MARF1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000016.10:g.15636317A>G, NC_000016.9:g.15730174A>G, NG_021407.1:g.11850T>C, NM_014647.4:c.170T>C, NM_014647.3:c.170T>C, NM_001184998.2:c.170T>C, NM_001184998.1:c.170T>C, NM_001184999.2:c.170T>C, NM_001184999.1:c.170T>C, NT_187607.1:g.1294328A>G, XM_017023900.3:c.170T>C, XM_017023900.2:c.170T>C, XM_017023900.1:c.170T>C, XM_017023901.3:c.170T>C, XM_017023901.2:c.170T>C, XM_017023901.1:c.170T>C, XM_005255706.3:c.170T>C, XM_005255706.2:c.170T>C, XM_005255706.1:c.170T>C, XM_005255707.3:c.170T>C, XM_005255707.2:c.170T>C, XM_005255707.1:c.170T>C, XM_017023902.3:c.170T>C, XM_017023902.2:c.170T>C, XM_017023902.1:c.170T>C, XM_017023903.3:c.170T>C, XM_017023903.2:c.170T>C, XM_017023903.1:c.170T>C, XM_017023904.3:c.170T>C, XM_017023904.2:c.170T>C, XM_017023904.1:c.170T>C, XM_017023905.3:c.170T>C, XM_017023905.2:c.170T>C, XM_017023905.1:c.170T>C, XM_017023906.3:c.170T>C, XM_017023906.2:c.170T>C, XM_017023906.1:c.170T>C, NM_019081.2:c.-2818T>C, XM_047434939.1:c.170T>C, XM_047434940.1:c.170T>C, XM_047434942.1:c.170T>C, XM_047434941.1:c.170T>C, XM_047434945.1:c.170T>C, XM_047434947.1:c.170T>C, XM_047434946.1:c.170T>C, XM_047434948.1:c.170T>C, XM_047434949.1:c.170T>C, XM_047434950.1:c.170T>C, XM_047434953.1:c.170T>C, XM_047434954.1:c.170T>C, XM_047434952.1:c.170T>C, XM_047434955.1:c.170T>C, XM_047434938.1:c.170T>C, XM_047434943.1:c.170T>C, XM_047434951.1:c.170T>C, XM_005255704.2:c.170T>C, XM_005255704.1:c.170T>C, XM_047434944.1:c.170T>C, NP_055462.2:p.Val57Ala, NP_001171927.1:p.Val57Ala, NP_001171928.1:p.Val57Ala, XP_016879389.1:p.Val57Ala, XP_016879390.1:p.Val57Ala, XP_005255763.1:p.Val57Ala, XP_005255764.1:p.Val57Ala, XP_016879391.1:p.Val57Ala, XP_016879392.1:p.Val57Ala, XP_016879393.1:p.Val57Ala, XP_016879394.1:p.Val57Ala, XP_016879395.1:p.Val57Ala, XP_047290895.1:p.Val57Ala, XP_047290896.1:p.Val57Ala, XP_047290898.1:p.Val57Ala, XP_047290897.1:p.Val57Ala, XP_047290901.1:p.Val57Ala, XP_047290903.1:p.Val57Ala, XP_047290902.1:p.Val57Ala, XP_047290904.1:p.Val57Ala, XP_047290905.1:p.Val57Ala, XP_047290906.1:p.Val57Ala, XP_047290909.1:p.Val57Ala, XP_047290910.1:p.Val57Ala, XP_047290908.1:p.Val57Ala, XP_047290911.1:p.Val57Ala, XP_047290894.1:p.Val57Ala, XP_047290899.1:p.Val57Ala, XP_047290907.1:p.Val57Ala, XP_005255761.1:p.Val57Ala, XP_047290900.1:p.Val57Ala

                        12.

                        rs1482710227 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          16:15633681 (GRCh38)
                          16:15727538 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:15633680:A:C
                          Gene:
                          MARF1 (Varview), LOC124903649 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000016.10:g.15633681A>C, NC_000016.9:g.15727538A>C, NG_021407.1:g.14486T>G, NM_014647.4:c.1169T>G, NM_014647.3:c.1169T>G, NM_001184998.2:c.1169T>G, NM_001184998.1:c.1169T>G, NM_001184999.2:c.1160T>G, NM_001184999.1:c.1160T>G, NT_187607.1:g.1291692A>C, XM_017023900.3:c.1169T>G, XM_017023900.2:c.1169T>G, XM_017023900.1:c.1169T>G, XM_017023901.3:c.1169T>G, XM_017023901.2:c.1169T>G, XM_017023901.1:c.1169T>G, XM_005255706.3:c.1169T>G, XM_005255706.2:c.1169T>G, XM_005255706.1:c.1169T>G, XM_005255707.3:c.1169T>G, XM_005255707.2:c.1169T>G, XM_005255707.1:c.1169T>G, XM_017023902.3:c.1169T>G, XM_017023902.2:c.1169T>G, XM_017023902.1:c.1169T>G, XM_017023903.3:c.1169T>G, XM_017023903.2:c.1169T>G, XM_017023903.1:c.1169T>G, XM_017023904.3:c.1169T>G, XM_017023904.2:c.1169T>G, XM_017023904.1:c.1169T>G, XM_017023905.3:c.632T>G, XM_017023905.2:c.632T>G, XM_017023905.1:c.632T>G, XM_017023906.3:c.632T>G, XM_017023906.2:c.632T>G, XM_017023906.1:c.632T>G, NM_019081.2:c.-1819T>G, XM_047434939.1:c.1169T>G, XM_047434940.1:c.1169T>G, XM_047434942.1:c.1169T>G, XM_047434941.1:c.1169T>G, XM_047434945.1:c.1169T>G, XM_047434947.1:c.632T>G, XM_047434946.1:c.632T>G, XM_047434948.1:c.632T>G, XM_047434949.1:c.632T>G, XM_047434950.1:c.632T>G, XM_047434953.1:c.632T>G, XM_047434954.1:c.632T>G, XM_047434952.1:c.1169T>G, XM_047434955.1:c.632T>G, XM_047434938.1:c.1169T>G, XM_047434951.1:c.1169T>G, XM_005255704.2:c.1169T>G, XM_005255704.1:c.1169T>G, XM_047434944.1:c.1169T>G, XM_047434943.1:c.1169T>G, NP_055462.2:p.Phe390Cys, NP_001171927.1:p.Phe390Cys, NP_001171928.1:p.Phe387Cys, XP_016879389.1:p.Phe390Cys, XP_016879390.1:p.Phe390Cys, XP_005255763.1:p.Phe390Cys, XP_005255764.1:p.Phe390Cys, XP_016879391.1:p.Phe390Cys, XP_016879392.1:p.Phe390Cys, XP_016879393.1:p.Phe390Cys, XP_016879394.1:p.Phe211Cys, XP_016879395.1:p.Phe211Cys, XP_047290895.1:p.Phe390Cys, XP_047290896.1:p.Phe390Cys, XP_047290898.1:p.Phe390Cys, XP_047290897.1:p.Phe390Cys, XP_047290901.1:p.Phe390Cys, XP_047290903.1:p.Phe211Cys, XP_047290902.1:p.Phe211Cys, XP_047290904.1:p.Phe211Cys, XP_047290905.1:p.Phe211Cys, XP_047290906.1:p.Phe211Cys, XP_047290909.1:p.Phe211Cys, XP_047290910.1:p.Phe211Cys, XP_047290908.1:p.Phe390Cys, XP_047290911.1:p.Phe211Cys, XP_047290894.1:p.Phe390Cys, XP_047290907.1:p.Phe390Cys, XP_005255761.1:p.Phe390Cys, XP_047290900.1:p.Phe390Cys, XP_047290899.1:p.Phe390Cys

                          13.

                          rs1482532262 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            16:15617060 (GRCh38)
                            16:15710917 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:15617059:A:C
                            Gene:
                            MARF1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            HGVS:
                            NC_000016.10:g.15617060A>C, NC_000016.9:g.15710917A>C, NG_021407.1:g.31107T>G, NM_014647.4:c.3069T>G, NM_014647.3:c.3069T>G, NM_001184998.2:c.3069T>G, NM_001184998.1:c.3069T>G, NM_001184999.2:c.3060T>G, NM_001184999.1:c.3060T>G, NT_187607.1:g.1275073A>C, XM_017023900.3:c.3072T>G, XM_017023900.2:c.3072T>G, XM_017023900.1:c.3072T>G, XM_017023901.3:c.3069T>G, XM_017023901.2:c.3069T>G, XM_017023901.1:c.3069T>G, XM_005255706.3:c.3066T>G, XM_005255706.2:c.3066T>G, XM_005255706.1:c.3066T>G, XM_005255707.3:c.3042T>G, XM_005255707.2:c.3042T>G, XM_005255707.1:c.3042T>G, XM_017023902.3:c.2910T>G, XM_017023902.2:c.2910T>G, XM_017023902.1:c.2910T>G, XM_017023903.3:c.2643T>G, XM_017023903.2:c.2643T>G, XM_017023903.1:c.2643T>G, XM_017023904.3:c.2640T>G, XM_017023904.2:c.2640T>G, XM_017023904.1:c.2640T>G, XM_017023905.3:c.2535T>G, XM_017023905.2:c.2535T>G, XM_017023905.1:c.2535T>G, XM_017023906.3:c.2532T>G, XM_017023906.2:c.2532T>G, XM_017023906.1:c.2532T>G, NM_019081.2:c.-415T>G, XM_005255704.2:c.3072T>G, XM_005255704.1:c.3072T>G, XM_047434938.1:c.3069T>G, XM_047434939.1:c.3066T>G, XM_047434940.1:c.3042T>G, XM_047434941.1:c.3039T>G, XM_047434944.1:c.2907T>G, XM_047434943.1:c.2907T>G, XM_047434945.1:c.2613T>G, XM_047434947.1:c.2532T>G, XM_047434946.1:c.2532T>G, XM_047434949.1:c.2505T>G, XM_047434950.1:c.2502T>G, XM_047434951.1:c.2481T>G, XM_047434953.1:c.2373T>G, XM_047434954.1:c.2106T>G, XM_047434955.1:c.2076T>G, XM_047434952.1:c.3072T>G, XM_047434942.1:c.3039T>G, XM_047434948.1:c.2529T>G

                            14.

                            rs1482496982 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              16:15623078 (GRCh38)
                              16:15716935 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:15623077:G:C
                              Gene:
                              MARF1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000016.10:g.15623078G>C, NC_000016.9:g.15716935G>C, NG_021407.1:g.25089C>G, NM_014647.4:c.2316C>G, NM_014647.3:c.2316C>G, NM_001184998.2:c.2316C>G, NM_001184998.1:c.2316C>G, NM_001184999.2:c.2307C>G, NM_001184999.1:c.2307C>G, NT_187607.1:g.1281091G>C, XM_017023900.3:c.2319C>G, XM_017023900.2:c.2319C>G, XM_017023900.1:c.2319C>G, XM_017023901.3:c.2316C>G, XM_017023901.2:c.2316C>G, XM_017023901.1:c.2316C>G, XM_005255706.3:c.2313C>G, XM_005255706.2:c.2313C>G, XM_005255706.1:c.2313C>G, XM_005255707.3:c.2289C>G, XM_005255707.2:c.2289C>G, XM_005255707.1:c.2289C>G, XM_017023902.3:c.2157C>G, XM_017023902.2:c.2157C>G, XM_017023902.1:c.2157C>G, XM_017023903.3:c.1890C>G, XM_017023903.2:c.1890C>G, XM_017023903.1:c.1890C>G, XM_017023904.3:c.1887C>G, XM_017023904.2:c.1887C>G, XM_017023904.1:c.1887C>G, XM_017023905.3:c.1782C>G, XM_017023905.2:c.1782C>G, XM_017023905.1:c.1782C>G, XM_017023906.3:c.1779C>G, XM_017023906.2:c.1779C>G, XM_017023906.1:c.1779C>G, XM_005255704.2:c.2319C>G, XM_005255704.1:c.2319C>G, XM_047434938.1:c.2316C>G, XM_047434939.1:c.2313C>G, XM_047434940.1:c.2289C>G, XM_047434941.1:c.2286C>G, XM_047434944.1:c.2154C>G, XM_047434943.1:c.2154C>G, XM_047434945.1:c.1860C>G, XM_047434947.1:c.1779C>G, XM_047434946.1:c.1779C>G, XM_047434949.1:c.1752C>G, XM_047434950.1:c.1749C>G, XM_047434951.1:c.1728C>G, XM_047434953.1:c.1620C>G, XM_047434954.1:c.1353C>G, XM_047434955.1:c.1323C>G, NM_019081.1:c.630C>G, XM_047434952.1:c.2319C>G, XM_047434942.1:c.2286C>G, XM_047434948.1:c.1776C>G, NP_055462.2:p.Phe772Leu, NP_001171927.1:p.Phe772Leu, NP_001171928.1:p.Phe769Leu, XP_016879389.1:p.Phe773Leu, XP_016879390.1:p.Phe772Leu, XP_005255763.1:p.Phe771Leu, XP_005255764.1:p.Phe763Leu, XP_016879391.1:p.Phe719Leu, XP_016879392.1:p.Phe630Leu, XP_016879393.1:p.Phe629Leu, XP_016879394.1:p.Phe594Leu, XP_016879395.1:p.Phe593Leu, XP_005255761.1:p.Phe773Leu, XP_047290894.1:p.Phe772Leu, XP_047290895.1:p.Phe771Leu, XP_047290896.1:p.Phe763Leu, XP_047290897.1:p.Phe762Leu, XP_047290900.1:p.Phe718Leu, XP_047290899.1:p.Phe718Leu, XP_047290901.1:p.Phe620Leu, XP_047290903.1:p.Phe593Leu, XP_047290902.1:p.Phe593Leu, XP_047290905.1:p.Phe584Leu, XP_047290906.1:p.Phe583Leu, XP_047290907.1:p.Phe576Leu, XP_047290909.1:p.Phe540Leu, XP_047290910.1:p.Phe451Leu, XP_047290911.1:p.Phe441Leu, XP_047290908.1:p.Phe773Leu, XP_047290898.1:p.Phe762Leu, XP_047290904.1:p.Phe592Leu

                              15.

                              rs1482359732 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:15596849 (GRCh38)
                                16:15690706 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:15596848:G:A
                                Gene:
                                MARF1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.15596849G>A, NC_000016.9:g.15690706G>A, NG_021407.1:g.51318C>T, NM_014647.4:c.5073C>T, NM_014647.3:c.5073C>T, NM_001184998.2:c.5073C>T, NM_001184998.1:c.5073C>T, NM_001184999.2:c.5064C>T, NM_001184999.1:c.5064C>T, NT_187607.1:g.1254840G>A, XM_017023900.3:c.5076C>T, XM_017023900.2:c.5076C>T, XM_017023900.1:c.5076C>T, XM_017023901.3:c.5073C>T, XM_017023901.2:c.5073C>T, XM_017023901.1:c.5073C>T, XM_005255706.3:c.5070C>T, XM_005255706.2:c.5070C>T, XM_005255706.1:c.5070C>T, XM_005255707.3:c.5046C>T, XM_005255707.2:c.5046C>T, XM_005255707.1:c.5046C>T, XM_017023902.3:c.4914C>T, XM_017023902.2:c.4914C>T, XM_017023902.1:c.4914C>T, XM_017023903.3:c.4647C>T, XM_017023903.2:c.4647C>T, XM_017023903.1:c.4647C>T, XM_017023904.3:c.4644C>T, XM_017023904.2:c.4644C>T, XM_017023904.1:c.4644C>T, XM_017023905.3:c.4539C>T, XM_017023905.2:c.4539C>T, XM_017023905.1:c.4539C>T, XM_017023906.3:c.4536C>T, XM_017023906.2:c.4536C>T, XM_017023906.1:c.4536C>T, XM_005255704.2:c.5076C>T, XM_005255704.1:c.5076C>T, NM_019081.2:c.1590C>T, XM_047434938.1:c.5073C>T, XM_047434939.1:c.5070C>T, XM_047434942.1:c.5043C>T, XM_047434941.1:c.5043C>T, XM_047434944.1:c.4911C>T, XM_047434943.1:c.4911C>T, XM_047434945.1:c.4617C>T, XM_047434947.1:c.4536C>T, XM_047434946.1:c.4536C>T, XM_047434948.1:c.4533C>T, XM_047434949.1:c.4509C>T, XM_047434950.1:c.4506C>T, XM_047434951.1:c.4485C>T, XM_047434953.1:c.4377C>T, XM_047434954.1:c.4110C>T, NM_019081.1:c.3444C>T, XM_047434955.1:c.4080C>T, XM_047434940.1:c.5046C>T

                                16.

                                rs1481717493 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:15634788 (GRCh38)
                                  16:15728645 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:15634787:C:T
                                  Gene:
                                  MARF1 (Varview), LOC124903649 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.15634788C>T, NC_000016.9:g.15728645C>T, NG_021407.1:g.13379G>A, NM_014647.4:c.975G>A, NM_014647.3:c.975G>A, NM_001184998.2:c.975G>A, NM_001184998.1:c.975G>A, NM_001184999.2:c.975G>A, NM_001184999.1:c.975G>A, NT_187607.1:g.1292799C>T, XM_017023900.3:c.975G>A, XM_017023900.2:c.975G>A, XM_017023900.1:c.975G>A, XM_017023901.3:c.975G>A, XM_017023901.2:c.975G>A, XM_017023901.1:c.975G>A, XM_005255706.3:c.975G>A, XM_005255706.2:c.975G>A, XM_005255706.1:c.975G>A, XM_005255707.3:c.975G>A, XM_005255707.2:c.975G>A, XM_005255707.1:c.975G>A, XM_017023902.3:c.975G>A, XM_017023902.2:c.975G>A, XM_017023902.1:c.975G>A, XM_017023903.3:c.975G>A, XM_017023903.2:c.975G>A, XM_017023903.1:c.975G>A, XM_017023904.3:c.975G>A, XM_017023904.2:c.975G>A, XM_017023904.1:c.975G>A, XM_017023905.3:c.438G>A, XM_017023905.2:c.438G>A, XM_017023905.1:c.438G>A, XM_017023906.3:c.438G>A, XM_017023906.2:c.438G>A, XM_017023906.1:c.438G>A, NM_019081.2:c.-2013G>A, XM_005255704.2:c.975G>A, XM_005255704.1:c.975G>A, XM_047434938.1:c.975G>A, XM_047434939.1:c.975G>A, XM_047434940.1:c.975G>A, XM_047434942.1:c.975G>A, XM_047434941.1:c.975G>A, XM_047434944.1:c.975G>A, XM_047434943.1:c.975G>A, XM_047434945.1:c.975G>A, XM_047434947.1:c.438G>A, XM_047434946.1:c.438G>A, XM_047434948.1:c.438G>A, XM_047434949.1:c.438G>A, XM_047434950.1:c.438G>A, XM_047434951.1:c.975G>A, XM_047434953.1:c.438G>A, XM_047434954.1:c.438G>A, XM_047434955.1:c.438G>A, XM_047434952.1:c.975G>A

                                  17.

                                  rs1481194795 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:15630370 (GRCh38)
                                    16:15724227 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:15630369:T:C
                                    Gene:
                                    MARF1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.15630370T>C, NC_000016.9:g.15724227T>C, NG_021407.1:g.17797A>G, NM_014647.4:c.1486A>G, NM_014647.3:c.1486A>G, NM_001184998.2:c.1486A>G, NM_001184998.1:c.1486A>G, NM_001184999.2:c.1477A>G, NM_001184999.1:c.1477A>G, NT_187607.1:g.1288383T>C, XM_017023900.3:c.1486A>G, XM_017023900.2:c.1486A>G, XM_017023900.1:c.1486A>G, XM_017023901.3:c.1486A>G, XM_017023901.2:c.1486A>G, XM_017023901.1:c.1486A>G, XM_005255706.3:c.1486A>G, XM_005255706.2:c.1486A>G, XM_005255706.1:c.1486A>G, XM_005255707.3:c.1486A>G, XM_005255707.2:c.1486A>G, XM_005255707.1:c.1486A>G, XM_017023902.3:c.1486A>G, XM_017023902.2:c.1486A>G, XM_017023902.1:c.1486A>G, XM_017023903.3:c.1486A>G, XM_017023903.2:c.1486A>G, XM_017023903.1:c.1486A>G, XM_017023904.3:c.1486A>G, XM_017023904.2:c.1486A>G, XM_017023904.1:c.1486A>G, XM_017023905.3:c.949A>G, XM_017023905.2:c.949A>G, XM_017023905.1:c.949A>G, XM_017023906.3:c.949A>G, XM_017023906.2:c.949A>G, XM_017023906.1:c.949A>G, NM_019081.2:c.-1502A>G, XM_005255704.2:c.1486A>G, XM_005255704.1:c.1486A>G, XM_047434938.1:c.1486A>G, XM_047434939.1:c.1486A>G, XM_047434940.1:c.1486A>G, XM_047434941.1:c.1486A>G, XM_047434944.1:c.1486A>G, XM_047434943.1:c.1486A>G, XM_047434945.1:c.1486A>G, XM_047434947.1:c.949A>G, XM_047434946.1:c.949A>G, XM_047434949.1:c.949A>G, XM_047434950.1:c.949A>G, XM_047434951.1:c.1486A>G, XM_047434953.1:c.949A>G, XM_047434954.1:c.949A>G, XM_047434955.1:c.949A>G, NM_019081.1:c.259A>G, XM_047434952.1:c.1486A>G, XM_047434942.1:c.1486A>G, XM_047434948.1:c.949A>G, NP_055462.2:p.Ile496Val, NP_001171927.1:p.Ile496Val, NP_001171928.1:p.Ile493Val, XP_016879389.1:p.Ile496Val, XP_016879390.1:p.Ile496Val, XP_005255763.1:p.Ile496Val, XP_005255764.1:p.Ile496Val, XP_016879391.1:p.Ile496Val, XP_016879392.1:p.Ile496Val, XP_016879393.1:p.Ile496Val, XP_016879394.1:p.Ile317Val, XP_016879395.1:p.Ile317Val, XP_005255761.1:p.Ile496Val, XP_047290894.1:p.Ile496Val, XP_047290895.1:p.Ile496Val, XP_047290896.1:p.Ile496Val, XP_047290897.1:p.Ile496Val, XP_047290900.1:p.Ile496Val, XP_047290899.1:p.Ile496Val, XP_047290901.1:p.Ile496Val, XP_047290903.1:p.Ile317Val, XP_047290902.1:p.Ile317Val, XP_047290905.1:p.Ile317Val, XP_047290906.1:p.Ile317Val, XP_047290907.1:p.Ile496Val, XP_047290909.1:p.Ile317Val, XP_047290910.1:p.Ile317Val, XP_047290911.1:p.Ile317Val, XP_047290908.1:p.Ile496Val, XP_047290898.1:p.Ile496Val, XP_047290904.1:p.Ile317Val

                                    18.

                                    rs1480427729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:15600466 (GRCh38)
                                      16:15694323 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:15600465:T:C
                                      Gene:
                                      MARF1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.15600466T>C, NC_000016.9:g.15694323T>C, NG_021407.1:g.47701A>G, NM_014647.4:c.4775A>G, NM_014647.3:c.4775A>G, NM_001184998.2:c.4775A>G, NM_001184998.1:c.4775A>G, NM_001184999.2:c.4766A>G, NM_001184999.1:c.4766A>G, NT_187607.1:g.1258457T>C, XM_017023900.3:c.4778A>G, XM_017023900.2:c.4778A>G, XM_017023900.1:c.4778A>G, XM_017023901.3:c.4775A>G, XM_017023901.2:c.4775A>G, XM_017023901.1:c.4775A>G, XM_005255706.3:c.4772A>G, XM_005255706.2:c.4772A>G, XM_005255706.1:c.4772A>G, XM_005255707.3:c.4748A>G, XM_005255707.2:c.4748A>G, XM_005255707.1:c.4748A>G, XM_017023902.3:c.4616A>G, XM_017023902.2:c.4616A>G, XM_017023902.1:c.4616A>G, XM_017023903.3:c.4349A>G, XM_017023903.2:c.4349A>G, XM_017023903.1:c.4349A>G, XM_017023904.3:c.4346A>G, XM_017023904.2:c.4346A>G, XM_017023904.1:c.4346A>G, XM_017023905.3:c.4241A>G, XM_017023905.2:c.4241A>G, XM_017023905.1:c.4241A>G, XM_017023906.3:c.4238A>G, XM_017023906.2:c.4238A>G, XM_017023906.1:c.4238A>G, NM_019081.2:c.1292A>G, XM_005255704.2:c.4778A>G, XM_005255704.1:c.4778A>G, XM_047434938.1:c.4775A>G, XM_047434939.1:c.4772A>G, XM_047434940.1:c.4748A>G, XM_047434941.1:c.4745A>G, XM_047434944.1:c.4613A>G, XM_047434943.1:c.4613A>G, XM_047434945.1:c.4319A>G, XM_047434947.1:c.4238A>G, XM_047434946.1:c.4238A>G, XM_047434949.1:c.4211A>G, XM_047434950.1:c.4208A>G, XM_047434951.1:c.4187A>G, XM_047434953.1:c.4079A>G, XM_047434954.1:c.3812A>G, XM_047434955.1:c.3782A>G, NM_019081.1:c.3146A>G, XM_047434952.1:c.*79A>G, XM_047434942.1:c.4745A>G, XM_047434948.1:c.4235A>G, NP_055462.2:p.His1592Arg, NP_001171927.1:p.His1592Arg, NP_001171928.1:p.His1589Arg, XP_016879389.1:p.His1593Arg, XP_016879390.1:p.His1592Arg, XP_005255763.1:p.His1591Arg, XP_005255764.1:p.His1583Arg, XP_016879391.1:p.His1539Arg, XP_016879392.1:p.His1450Arg, XP_016879393.1:p.His1449Arg, XP_016879394.1:p.His1414Arg, XP_016879395.1:p.His1413Arg, XP_005255761.1:p.His1593Arg, XP_047290894.1:p.His1592Arg, XP_047290895.1:p.His1591Arg, XP_047290896.1:p.His1583Arg, XP_047290897.1:p.His1582Arg, XP_047290900.1:p.His1538Arg, XP_047290899.1:p.His1538Arg, XP_047290901.1:p.His1440Arg, XP_047290903.1:p.His1413Arg, XP_047290902.1:p.His1413Arg, XP_047290905.1:p.His1404Arg, XP_047290906.1:p.His1403Arg, XP_047290907.1:p.His1396Arg, XP_047290909.1:p.His1360Arg, XP_047290910.1:p.His1271Arg, XP_047290911.1:p.His1261Arg, XP_047290898.1:p.His1582Arg, XP_047290904.1:p.His1412Arg

                                      19.

                                      rs1480080546 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        16:15615831 (GRCh38)
                                        16:15709688 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:15615830:A:C,NC_000016.10:15615830:A:G
                                        Gene:
                                        MARF1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000016.10:g.15615831A>C, NC_000016.10:g.15615831A>G, NC_000016.9:g.15709688A>C, NC_000016.9:g.15709688A>G, NG_021407.1:g.32336T>G, NG_021407.1:g.32336T>C, NM_014647.4:c.3252T>G, NM_014647.4:c.3252T>C, NM_014647.3:c.3252T>G, NM_014647.3:c.3252T>C, NM_001184998.2:c.3252T>G, NM_001184998.2:c.3252T>C, NM_001184998.1:c.3252T>G, NM_001184998.1:c.3252T>C, NM_001184999.2:c.3243T>G, NM_001184999.2:c.3243T>C, NM_001184999.1:c.3243T>G, NM_001184999.1:c.3243T>C, NT_187607.1:g.1273844A>C, NT_187607.1:g.1273844A>G, XM_017023900.3:c.3255T>G, XM_017023900.3:c.3255T>C, XM_017023900.2:c.3255T>G, XM_017023900.2:c.3255T>C, XM_017023900.1:c.3255T>G, XM_017023900.1:c.3255T>C, XM_017023901.3:c.3252T>G, XM_017023901.3:c.3252T>C, XM_017023901.2:c.3252T>G, XM_017023901.2:c.3252T>C, XM_017023901.1:c.3252T>G, XM_017023901.1:c.3252T>C, XM_005255706.3:c.3249T>G, XM_005255706.3:c.3249T>C, XM_005255706.2:c.3249T>G, XM_005255706.2:c.3249T>C, XM_005255706.1:c.3249T>G, XM_005255706.1:c.3249T>C, XM_005255707.3:c.3225T>G, XM_005255707.3:c.3225T>C, XM_005255707.2:c.3225T>G, XM_005255707.2:c.3225T>C, XM_005255707.1:c.3225T>G, XM_005255707.1:c.3225T>C, XM_017023902.3:c.3093T>G, XM_017023902.3:c.3093T>C, XM_017023902.2:c.3093T>G, XM_017023902.2:c.3093T>C, XM_017023902.1:c.3093T>G, XM_017023902.1:c.3093T>C, XM_017023903.3:c.2826T>G, XM_017023903.3:c.2826T>C, XM_017023903.2:c.2826T>G, XM_017023903.2:c.2826T>C, XM_017023903.1:c.2826T>G, XM_017023903.1:c.2826T>C, XM_017023904.3:c.2823T>G, XM_017023904.3:c.2823T>C, XM_017023904.2:c.2823T>G, XM_017023904.2:c.2823T>C, XM_017023904.1:c.2823T>G, XM_017023904.1:c.2823T>C, XM_017023905.3:c.2718T>G, XM_017023905.3:c.2718T>C, XM_017023905.2:c.2718T>G, XM_017023905.2:c.2718T>C, XM_017023905.1:c.2718T>G, XM_017023905.1:c.2718T>C, XM_017023906.3:c.2715T>G, XM_017023906.3:c.2715T>C, XM_017023906.2:c.2715T>G, XM_017023906.2:c.2715T>C, XM_017023906.1:c.2715T>G, XM_017023906.1:c.2715T>C, NM_019081.2:c.-232T>G, NM_019081.2:c.-232T>C, XM_005255704.2:c.3255T>G, XM_005255704.2:c.3255T>C, XM_005255704.1:c.3255T>G, XM_005255704.1:c.3255T>C, XM_047434938.1:c.3252T>G, XM_047434938.1:c.3252T>C, XM_047434939.1:c.3249T>G, XM_047434939.1:c.3249T>C, XM_047434940.1:c.3225T>G, XM_047434940.1:c.3225T>C, XM_047434941.1:c.3222T>G, XM_047434941.1:c.3222T>C, XM_047434944.1:c.3090T>G, XM_047434944.1:c.3090T>C, XM_047434943.1:c.3090T>G, XM_047434943.1:c.3090T>C, XM_047434945.1:c.2796T>G, XM_047434945.1:c.2796T>C, XM_047434947.1:c.2715T>G, XM_047434947.1:c.2715T>C, XM_047434946.1:c.2715T>G, XM_047434946.1:c.2715T>C, XM_047434949.1:c.2688T>G, XM_047434949.1:c.2688T>C, XM_047434950.1:c.2685T>G, XM_047434950.1:c.2685T>C, XM_047434951.1:c.2664T>G, XM_047434951.1:c.2664T>C, XM_047434953.1:c.2556T>G, XM_047434953.1:c.2556T>C, XM_047434954.1:c.2289T>G, XM_047434954.1:c.2289T>C, XM_047434955.1:c.2259T>G, XM_047434955.1:c.2259T>C, NM_019081.1:c.1365T>G, NM_019081.1:c.1365T>C, XM_047434952.1:c.3255T>G, XM_047434952.1:c.3255T>C, XM_047434942.1:c.3222T>G, XM_047434942.1:c.3222T>C, XM_047434948.1:c.2712T>G, XM_047434948.1:c.2712T>C

                                        20.

                                        rs1479756346 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:15636096 (GRCh38)
                                          16:15729953 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:15636095:G:A
                                          Gene:
                                          MARF1 (Varview), LOC124903649 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000029/4 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.15636096G>A, NC_000016.9:g.15729953G>A, NG_021407.1:g.12071C>T, NM_014647.4:c.391C>T, NM_014647.3:c.391C>T, NM_001184998.2:c.391C>T, NM_001184998.1:c.391C>T, NM_001184999.2:c.391C>T, NM_001184999.1:c.391C>T, NT_187607.1:g.1294107G>A, XM_017023900.3:c.391C>T, XM_017023900.2:c.391C>T, XM_017023900.1:c.391C>T, XM_017023901.3:c.391C>T, XM_017023901.2:c.391C>T, XM_017023901.1:c.391C>T, XM_005255706.3:c.391C>T, XM_005255706.2:c.391C>T, XM_005255706.1:c.391C>T, XM_005255707.3:c.391C>T, XM_005255707.2:c.391C>T, XM_005255707.1:c.391C>T, XM_017023902.3:c.391C>T, XM_017023902.2:c.391C>T, XM_017023902.1:c.391C>T, XM_017023903.3:c.391C>T, XM_017023903.2:c.391C>T, XM_017023903.1:c.391C>T, XM_017023904.3:c.391C>T, XM_017023904.2:c.391C>T, XM_017023904.1:c.391C>T, NM_019081.2:c.-2597C>T, XM_047434939.1:c.391C>T, XM_047434940.1:c.391C>T, XM_047434942.1:c.391C>T, XM_047434941.1:c.391C>T, XM_047434945.1:c.391C>T, XM_047434952.1:c.391C>T, XM_047434938.1:c.391C>T, XM_047434951.1:c.391C>T, XM_005255704.2:c.391C>T, XM_005255704.1:c.391C>T, XM_047434944.1:c.391C>T, XM_047434943.1:c.391C>T, NP_055462.2:p.His131Tyr, NP_001171927.1:p.His131Tyr, NP_001171928.1:p.His131Tyr, XP_016879389.1:p.His131Tyr, XP_016879390.1:p.His131Tyr, XP_005255763.1:p.His131Tyr, XP_005255764.1:p.His131Tyr, XP_016879391.1:p.His131Tyr, XP_016879392.1:p.His131Tyr, XP_016879393.1:p.His131Tyr, XP_047290895.1:p.His131Tyr, XP_047290896.1:p.His131Tyr, XP_047290898.1:p.His131Tyr, XP_047290897.1:p.His131Tyr, XP_047290901.1:p.His131Tyr, XP_047290908.1:p.His131Tyr, XP_047290894.1:p.His131Tyr, XP_047290907.1:p.His131Tyr, XP_005255761.1:p.His131Tyr, XP_047290900.1:p.His131Tyr, XP_047290899.1:p.His131Tyr

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