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Items: 1 to 20 of 487

1.

rs1489623408 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:51715328 (GRCh38)
    14:52182046 (GRCh37)
    Canonical SPDI:
    NC_000014.9:51715327:A:G
    Gene:
    FRMD6 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000057/2 (ALFA)
    G=0.000011/3 (TOPMED)
    G=0.000021/3 (GnomAD)
    HGVS:
    NC_000014.9:g.51715328A>G, NC_000014.8:g.52182046A>G, NM_152330.4:c.829A>G, NM_152330.3:c.829A>G, NM_001042481.3:c.829A>G, NM_001042481.2:c.829A>G, XM_017020968.3:c.829A>G, XM_017020968.2:c.829A>G, XM_017020968.1:c.829A>G, XM_024449475.2:c.853A>G, XM_024449475.1:c.853A>G, XM_024449474.2:c.853A>G, XM_024449474.1:c.853A>G, XM_024449476.2:c.829A>G, XM_024449476.1:c.829A>G, XM_011536424.2:c.853A>G, XM_011536424.1:c.853A>G, XM_006720029.2:c.853A>G, XM_006720029.1:c.853A>G, XM_024449473.2:c.853A>G, XM_024449473.1:c.853A>G, XM_006720030.2:c.829A>G, XM_006720030.1:c.829A>G, NM_001267046.2:c.853A>G, NM_001267046.1:c.853A>G, XM_017020967.2:c.853A>G, XM_017020967.1:c.853A>G, XM_047430923.1:c.853A>G, XM_047430935.1:c.829A>G, XM_047430930.1:c.829A>G, XM_047430933.1:c.829A>G, XM_047430920.1:c.853A>G, XM_047430929.1:c.829A>G, XM_047430926.1:c.853A>G, XM_047430928.1:c.853A>G, XM_047430925.1:c.853A>G, XM_047430922.1:c.853A>G, XM_047430931.1:c.829A>G, XM_047430921.1:c.853A>G, XM_047430932.1:c.829A>G, XM_047430927.1:c.853A>G, XM_047430934.1:c.829A>G, XM_047430936.1:c.853A>G, XM_047430937.1:c.829A>G, XM_047430939.1:c.829A>G, XM_047430938.1:c.829A>G, NP_689543.1:p.Lys277Glu, NP_001035946.1:p.Lys277Glu, XP_016876457.1:p.Lys277Glu, XP_024305243.1:p.Lys285Glu, XP_024305242.1:p.Lys285Glu, XP_024305244.1:p.Lys277Glu, XP_011534726.1:p.Lys285Glu, XP_006720092.1:p.Lys285Glu, XP_024305241.1:p.Lys285Glu, XP_006720093.1:p.Lys277Glu, NP_001253975.1:p.Lys285Glu, XP_016876456.1:p.Lys285Glu, XP_047286879.1:p.Lys285Glu, XP_047286891.1:p.Lys277Glu, XP_047286886.1:p.Lys277Glu, XP_047286889.1:p.Lys277Glu, XP_047286876.1:p.Lys285Glu, XP_047286885.1:p.Lys277Glu, XP_047286882.1:p.Lys285Glu, XP_047286884.1:p.Lys285Glu, XP_047286881.1:p.Lys285Glu, XP_047286878.1:p.Lys285Glu, XP_047286887.1:p.Lys277Glu, XP_047286877.1:p.Lys285Glu, XP_047286888.1:p.Lys277Glu, XP_047286883.1:p.Lys285Glu, XP_047286890.1:p.Lys277Glu, XP_047286892.1:p.Lys285Glu, XP_047286893.1:p.Lys277Glu, XP_047286895.1:p.Lys277Glu, XP_047286894.1:p.Lys277Glu

    2.

    rs1489046650 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      14:51715402 (GRCh38)
      14:52182120 (GRCh37)
      Canonical SPDI:
      NC_000014.9:51715401:C:T
      Gene:
      FRMD6 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.51715402C>T, NC_000014.8:g.52182120C>T, NM_152330.4:c.903C>T, NM_152330.3:c.903C>T, NM_001042481.3:c.903C>T, NM_001042481.2:c.903C>T, XM_017020968.3:c.903C>T, XM_017020968.2:c.903C>T, XM_017020968.1:c.903C>T, XM_024449475.2:c.927C>T, XM_024449475.1:c.927C>T, XM_024449474.2:c.927C>T, XM_024449474.1:c.927C>T, XM_024449476.2:c.903C>T, XM_024449476.1:c.903C>T, XM_011536424.2:c.927C>T, XM_011536424.1:c.927C>T, XM_006720029.2:c.927C>T, XM_006720029.1:c.927C>T, XM_024449473.2:c.927C>T, XM_024449473.1:c.927C>T, XM_006720030.2:c.903C>T, XM_006720030.1:c.903C>T, NM_001267046.2:c.927C>T, NM_001267046.1:c.927C>T, XM_017020967.2:c.927C>T, XM_017020967.1:c.927C>T, XM_047430923.1:c.927C>T, XM_047430935.1:c.903C>T, XM_047430930.1:c.903C>T, XM_047430933.1:c.903C>T, XM_047430920.1:c.927C>T, XM_047430929.1:c.903C>T, XM_047430926.1:c.927C>T, XM_047430928.1:c.927C>T, XM_047430925.1:c.927C>T, XM_047430922.1:c.927C>T, XM_047430931.1:c.903C>T, XM_047430921.1:c.927C>T, XM_047430932.1:c.903C>T, XM_047430927.1:c.927C>T, XM_047430934.1:c.903C>T, XM_047430936.1:c.927C>T, XM_047430937.1:c.903C>T, XM_047430939.1:c.903C>T, XM_047430938.1:c.903C>T

      3.

      rs1488034276 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        14:51725783 (GRCh38)
        14:52192501 (GRCh37)
        Canonical SPDI:
        NC_000014.9:51725782:G:A,NC_000014.9:51725782:G:T
        Gene:
        FRMD6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.51725783G>A, NC_000014.9:g.51725783G>T, NC_000014.8:g.52192501G>A, NC_000014.8:g.52192501G>T, NM_152330.4:c.1473G>A, NM_152330.4:c.1473G>T, NM_152330.3:c.1473G>A, NM_152330.3:c.1473G>T, NM_001042481.3:c.1473G>A, NM_001042481.3:c.1473G>T, NM_001042481.2:c.1473G>A, NM_001042481.2:c.1473G>T, XM_017020968.3:c.1473G>A, XM_017020968.3:c.1473G>T, XM_017020968.2:c.1473G>A, XM_017020968.2:c.1473G>T, XM_017020968.1:c.1473G>A, XM_017020968.1:c.1473G>T, XM_024449475.2:c.1497G>A, XM_024449475.2:c.1497G>T, XM_024449475.1:c.1497G>A, XM_024449475.1:c.1497G>T, XM_024449474.2:c.1497G>A, XM_024449474.2:c.1497G>T, XM_024449474.1:c.1497G>A, XM_024449474.1:c.1497G>T, XM_024449476.2:c.1473G>A, XM_024449476.2:c.1473G>T, XM_024449476.1:c.1473G>A, XM_024449476.1:c.1473G>T, XM_011536424.2:c.1497G>A, XM_011536424.2:c.1497G>T, XM_011536424.1:c.1497G>A, XM_011536424.1:c.1497G>T, XM_006720029.2:c.1497G>A, XM_006720029.2:c.1497G>T, XM_006720029.1:c.1497G>A, XM_006720029.1:c.1497G>T, XM_024449473.2:c.1497G>A, XM_024449473.2:c.1497G>T, XM_024449473.1:c.1497G>A, XM_024449473.1:c.1497G>T, XM_006720030.2:c.1473G>A, XM_006720030.2:c.1473G>T, XM_006720030.1:c.1473G>A, XM_006720030.1:c.1473G>T, NM_001267046.2:c.1497G>A, NM_001267046.2:c.1497G>T, NM_001267046.1:c.1497G>A, NM_001267046.1:c.1497G>T, XM_017020967.2:c.1497G>A, XM_017020967.2:c.1497G>T, XM_017020967.1:c.1497G>A, XM_017020967.1:c.1497G>T, XM_047430923.1:c.1497G>A, XM_047430923.1:c.1497G>T, XM_047430935.1:c.1473G>A, XM_047430935.1:c.1473G>T, XM_047430930.1:c.1473G>A, XM_047430930.1:c.1473G>T, XM_047430933.1:c.1473G>A, XM_047430933.1:c.1473G>T, XM_047430920.1:c.1497G>A, XM_047430920.1:c.1497G>T, XM_047430929.1:c.1473G>A, XM_047430929.1:c.1473G>T, XM_047430926.1:c.1497G>A, XM_047430926.1:c.1497G>T, XM_047430928.1:c.1497G>A, XM_047430928.1:c.1497G>T, XM_047430925.1:c.1497G>A, XM_047430925.1:c.1497G>T, XM_047430922.1:c.1497G>A, XM_047430922.1:c.1497G>T, XM_047430931.1:c.1473G>A, XM_047430931.1:c.1473G>T, XM_047430921.1:c.1497G>A, XM_047430921.1:c.1497G>T, XM_047430932.1:c.1473G>A, XM_047430932.1:c.1473G>T, XM_047430927.1:c.1497G>A, XM_047430927.1:c.1497G>T, XM_047430934.1:c.1473G>A, XM_047430934.1:c.1473G>T, XM_047430936.1:c.1497G>A, XM_047430936.1:c.1497G>T, XM_047430937.1:c.1473G>A, XM_047430937.1:c.1473G>T, NM_001267047.1:c.423G>A, NM_001267047.1:c.423G>T, XM_047430939.1:c.1473G>A, XM_047430939.1:c.1473G>T, XM_047430938.1:c.1473G>A, XM_047430938.1:c.1473G>T, NP_689543.1:p.Leu491Phe, NP_001035946.1:p.Leu491Phe, XP_016876457.1:p.Leu491Phe, XP_024305243.1:p.Leu499Phe, XP_024305242.1:p.Leu499Phe, XP_024305244.1:p.Leu491Phe, XP_011534726.1:p.Leu499Phe, XP_006720092.1:p.Leu499Phe, XP_024305241.1:p.Leu499Phe, XP_006720093.1:p.Leu491Phe, NP_001253975.1:p.Leu499Phe, XP_016876456.1:p.Leu499Phe, XP_047286879.1:p.Leu499Phe, XP_047286891.1:p.Leu491Phe, XP_047286886.1:p.Leu491Phe, XP_047286889.1:p.Leu491Phe, XP_047286876.1:p.Leu499Phe, XP_047286885.1:p.Leu491Phe, XP_047286882.1:p.Leu499Phe, XP_047286884.1:p.Leu499Phe, XP_047286881.1:p.Leu499Phe, XP_047286878.1:p.Leu499Phe, XP_047286887.1:p.Leu491Phe, XP_047286877.1:p.Leu499Phe, XP_047286888.1:p.Leu491Phe, XP_047286883.1:p.Leu499Phe, XP_047286890.1:p.Leu491Phe, XP_047286892.1:p.Leu499Phe, XP_047286893.1:p.Leu491Phe, NP_001253976.1:p.Leu141Phe, XP_047286895.1:p.Leu491Phe, XP_047286894.1:p.Leu491Phe

        4.

        rs1478362781 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          14:51715344 (GRCh38)
          14:52182062 (GRCh37)
          Canonical SPDI:
          NC_000014.9:51715343:T:A
          Gene:
          FRMD6 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,stop_gained
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000014.9:g.51715344T>A, NC_000014.8:g.52182062T>A, NM_152330.4:c.845T>A, NM_152330.3:c.845T>A, NM_001042481.3:c.845T>A, NM_001042481.2:c.845T>A, XM_017020968.3:c.845T>A, XM_017020968.2:c.845T>A, XM_017020968.1:c.845T>A, XM_024449475.2:c.869T>A, XM_024449475.1:c.869T>A, XM_024449474.2:c.869T>A, XM_024449474.1:c.869T>A, XM_024449476.2:c.845T>A, XM_024449476.1:c.845T>A, XM_011536424.2:c.869T>A, XM_011536424.1:c.869T>A, XM_006720029.2:c.869T>A, XM_006720029.1:c.869T>A, XM_024449473.2:c.869T>A, XM_024449473.1:c.869T>A, XM_006720030.2:c.845T>A, XM_006720030.1:c.845T>A, NM_001267046.2:c.869T>A, NM_001267046.1:c.869T>A, XM_017020967.2:c.869T>A, XM_017020967.1:c.869T>A, XM_047430923.1:c.869T>A, XM_047430935.1:c.845T>A, XM_047430930.1:c.845T>A, XM_047430933.1:c.845T>A, XM_047430920.1:c.869T>A, XM_047430929.1:c.845T>A, XM_047430926.1:c.869T>A, XM_047430928.1:c.869T>A, XM_047430925.1:c.869T>A, XM_047430922.1:c.869T>A, XM_047430931.1:c.845T>A, XM_047430921.1:c.869T>A, XM_047430932.1:c.845T>A, XM_047430927.1:c.869T>A, XM_047430934.1:c.845T>A, XM_047430936.1:c.869T>A, XM_047430937.1:c.845T>A, XM_047430939.1:c.845T>A, XM_047430938.1:c.845T>A, NP_689543.1:p.Leu282Ter, NP_001035946.1:p.Leu282Ter, XP_016876457.1:p.Leu282Ter, XP_024305243.1:p.Leu290Ter, XP_024305242.1:p.Leu290Ter, XP_024305244.1:p.Leu282Ter, XP_011534726.1:p.Leu290Ter, XP_006720092.1:p.Leu290Ter, XP_024305241.1:p.Leu290Ter, XP_006720093.1:p.Leu282Ter, NP_001253975.1:p.Leu290Ter, XP_016876456.1:p.Leu290Ter, XP_047286879.1:p.Leu290Ter, XP_047286891.1:p.Leu282Ter, XP_047286886.1:p.Leu282Ter, XP_047286889.1:p.Leu282Ter, XP_047286876.1:p.Leu290Ter, XP_047286885.1:p.Leu282Ter, XP_047286882.1:p.Leu290Ter, XP_047286884.1:p.Leu290Ter, XP_047286881.1:p.Leu290Ter, XP_047286878.1:p.Leu290Ter, XP_047286887.1:p.Leu282Ter, XP_047286877.1:p.Leu290Ter, XP_047286888.1:p.Leu282Ter, XP_047286883.1:p.Leu290Ter, XP_047286890.1:p.Leu282Ter, XP_047286892.1:p.Leu290Ter, XP_047286893.1:p.Leu282Ter, XP_047286895.1:p.Leu282Ter, XP_047286894.1:p.Leu282Ter

          5.

          rs1477703044 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:51704894 (GRCh38)
            14:52171612 (GRCh37)
            Canonical SPDI:
            NC_000014.9:51704893:T:C
            Gene:
            FRMD6 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.51704894T>C, NC_000014.8:g.52171612T>C, NM_152330.4:c.493T>C, NM_152330.3:c.493T>C, NM_001042481.3:c.493T>C, NM_001042481.2:c.493T>C, XM_017020968.3:c.493T>C, XM_017020968.2:c.493T>C, XM_017020968.1:c.493T>C, XM_024449475.2:c.517T>C, XM_024449475.1:c.517T>C, XM_024449474.2:c.517T>C, XM_024449474.1:c.517T>C, XM_024449476.2:c.493T>C, XM_024449476.1:c.493T>C, XM_011536424.2:c.517T>C, XM_011536424.1:c.517T>C, XM_006720029.2:c.517T>C, XM_006720029.1:c.517T>C, XM_024449473.2:c.517T>C, XM_024449473.1:c.517T>C, XM_006720030.2:c.493T>C, XM_006720030.1:c.493T>C, NM_001267046.2:c.517T>C, NM_001267046.1:c.517T>C, XM_017020967.2:c.517T>C, XM_017020967.1:c.517T>C, XM_047430923.1:c.517T>C, XM_047430935.1:c.493T>C, XM_047430930.1:c.493T>C, XM_047430933.1:c.493T>C, XM_047430920.1:c.517T>C, XM_047430929.1:c.493T>C, XM_047430926.1:c.517T>C, XM_047430928.1:c.517T>C, XM_047430925.1:c.517T>C, XM_047430922.1:c.517T>C, XM_047430931.1:c.493T>C, XM_047430921.1:c.517T>C, XM_047430932.1:c.493T>C, XM_047430927.1:c.517T>C, XM_047430934.1:c.493T>C, XM_047430936.1:c.517T>C, XM_047430937.1:c.493T>C, XM_047430939.1:c.493T>C, XM_047430938.1:c.493T>C, NP_689543.1:p.Tyr165His, NP_001035946.1:p.Tyr165His, XP_016876457.1:p.Tyr165His, XP_024305243.1:p.Tyr173His, XP_024305242.1:p.Tyr173His, XP_024305244.1:p.Tyr165His, XP_011534726.1:p.Tyr173His, XP_006720092.1:p.Tyr173His, XP_024305241.1:p.Tyr173His, XP_006720093.1:p.Tyr165His, NP_001253975.1:p.Tyr173His, XP_016876456.1:p.Tyr173His, XP_047286879.1:p.Tyr173His, XP_047286891.1:p.Tyr165His, XP_047286886.1:p.Tyr165His, XP_047286889.1:p.Tyr165His, XP_047286876.1:p.Tyr173His, XP_047286885.1:p.Tyr165His, XP_047286882.1:p.Tyr173His, XP_047286884.1:p.Tyr173His, XP_047286881.1:p.Tyr173His, XP_047286878.1:p.Tyr173His, XP_047286887.1:p.Tyr165His, XP_047286877.1:p.Tyr173His, XP_047286888.1:p.Tyr165His, XP_047286883.1:p.Tyr173His, XP_047286890.1:p.Tyr165His, XP_047286892.1:p.Tyr173His, XP_047286893.1:p.Tyr165His, XP_047286895.1:p.Tyr165His, XP_047286894.1:p.Tyr165His

            6.

            rs1477023384 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              14:51715387 (GRCh38)
              14:52182105 (GRCh37)
              Canonical SPDI:
              NC_000014.9:51715386:G:C
              Gene:
              FRMD6 (Varview)
              Functional Consequence:
              synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_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_000014.9:g.51715387G>C, NC_000014.8:g.52182105G>C, NM_152330.4:c.888G>C, NM_152330.3:c.888G>C, NM_001042481.3:c.888G>C, NM_001042481.2:c.888G>C, XM_017020968.3:c.888G>C, XM_017020968.2:c.888G>C, XM_017020968.1:c.888G>C, XM_024449475.2:c.912G>C, XM_024449475.1:c.912G>C, XM_024449474.2:c.912G>C, XM_024449474.1:c.912G>C, XM_024449476.2:c.888G>C, XM_024449476.1:c.888G>C, XM_011536424.2:c.912G>C, XM_011536424.1:c.912G>C, XM_006720029.2:c.912G>C, XM_006720029.1:c.912G>C, XM_024449473.2:c.912G>C, XM_024449473.1:c.912G>C, XM_006720030.2:c.888G>C, XM_006720030.1:c.888G>C, NM_001267046.2:c.912G>C, NM_001267046.1:c.912G>C, XM_017020967.2:c.912G>C, XM_017020967.1:c.912G>C, XM_047430923.1:c.912G>C, XM_047430935.1:c.888G>C, XM_047430930.1:c.888G>C, XM_047430933.1:c.888G>C, XM_047430920.1:c.912G>C, XM_047430929.1:c.888G>C, XM_047430926.1:c.912G>C, XM_047430928.1:c.912G>C, XM_047430925.1:c.912G>C, XM_047430922.1:c.912G>C, XM_047430931.1:c.888G>C, XM_047430921.1:c.912G>C, XM_047430932.1:c.888G>C, XM_047430927.1:c.912G>C, XM_047430934.1:c.888G>C, XM_047430936.1:c.912G>C, XM_047430937.1:c.888G>C, XM_047430939.1:c.888G>C, XM_047430938.1:c.888G>C

              7.

              rs1476812344 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                14:51712536 (GRCh38)
                14:52179254 (GRCh37)
                Canonical SPDI:
                NC_000014.9:51712535:A:G
                Gene:
                FRMD6 (Varview)
                Functional Consequence:
                synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.51712536A>G, NC_000014.8:g.52179254A>G, NM_152330.4:c.810A>G, NM_152330.3:c.810A>G, NM_001042481.3:c.810A>G, NM_001042481.2:c.810A>G, XM_017020968.3:c.810A>G, XM_017020968.2:c.810A>G, XM_017020968.1:c.810A>G, XM_024449475.2:c.834A>G, XM_024449475.1:c.834A>G, XM_024449474.2:c.834A>G, XM_024449474.1:c.834A>G, XM_024449476.2:c.810A>G, XM_024449476.1:c.810A>G, XM_011536424.2:c.834A>G, XM_011536424.1:c.834A>G, XM_006720029.2:c.834A>G, XM_006720029.1:c.834A>G, XM_024449473.2:c.834A>G, XM_024449473.1:c.834A>G, XM_006720030.2:c.810A>G, XM_006720030.1:c.810A>G, NM_001267046.2:c.834A>G, NM_001267046.1:c.834A>G, XM_017020967.2:c.834A>G, XM_017020967.1:c.834A>G, XM_047430923.1:c.834A>G, XM_047430935.1:c.810A>G, XM_047430930.1:c.810A>G, XM_047430933.1:c.810A>G, XM_047430920.1:c.834A>G, XM_047430929.1:c.810A>G, XM_047430926.1:c.834A>G, XM_047430928.1:c.834A>G, XM_047430925.1:c.834A>G, XM_047430922.1:c.834A>G, XM_047430931.1:c.810A>G, XM_047430921.1:c.834A>G, XM_047430932.1:c.810A>G, XM_047430927.1:c.834A>G, XM_047430934.1:c.810A>G, XM_047430936.1:c.834A>G, XM_047430937.1:c.810A>G, XM_047430939.1:c.810A>G, XM_047430938.1:c.810A>G

                8.

                rs1475398360 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:51715358 (GRCh38)
                  14:52182076 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:51715357:C:T
                  Gene:
                  FRMD6 (Varview)
                  Functional Consequence:
                  missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.0003/1 (KOREAN)
                  HGVS:
                  NC_000014.9:g.51715358C>T, NC_000014.8:g.52182076C>T, NM_152330.4:c.859C>T, NM_152330.3:c.859C>T, NM_001042481.3:c.859C>T, NM_001042481.2:c.859C>T, XM_017020968.3:c.859C>T, XM_017020968.2:c.859C>T, XM_017020968.1:c.859C>T, XM_024449475.2:c.883C>T, XM_024449475.1:c.883C>T, XM_024449474.2:c.883C>T, XM_024449474.1:c.883C>T, XM_024449476.2:c.859C>T, XM_024449476.1:c.859C>T, XM_011536424.2:c.883C>T, XM_011536424.1:c.883C>T, XM_006720029.2:c.883C>T, XM_006720029.1:c.883C>T, XM_024449473.2:c.883C>T, XM_024449473.1:c.883C>T, XM_006720030.2:c.859C>T, XM_006720030.1:c.859C>T, NM_001267046.2:c.883C>T, NM_001267046.1:c.883C>T, XM_017020967.2:c.883C>T, XM_017020967.1:c.883C>T, XM_047430923.1:c.883C>T, XM_047430935.1:c.859C>T, XM_047430930.1:c.859C>T, XM_047430933.1:c.859C>T, XM_047430920.1:c.883C>T, XM_047430929.1:c.859C>T, XM_047430926.1:c.883C>T, XM_047430928.1:c.883C>T, XM_047430925.1:c.883C>T, XM_047430922.1:c.883C>T, XM_047430931.1:c.859C>T, XM_047430921.1:c.883C>T, XM_047430932.1:c.859C>T, XM_047430927.1:c.883C>T, XM_047430934.1:c.859C>T, XM_047430936.1:c.883C>T, XM_047430937.1:c.859C>T, XM_047430939.1:c.859C>T, XM_047430938.1:c.859C>T, NP_689543.1:p.Pro287Ser, NP_001035946.1:p.Pro287Ser, XP_016876457.1:p.Pro287Ser, XP_024305243.1:p.Pro295Ser, XP_024305242.1:p.Pro295Ser, XP_024305244.1:p.Pro287Ser, XP_011534726.1:p.Pro295Ser, XP_006720092.1:p.Pro295Ser, XP_024305241.1:p.Pro295Ser, XP_006720093.1:p.Pro287Ser, NP_001253975.1:p.Pro295Ser, XP_016876456.1:p.Pro295Ser, XP_047286879.1:p.Pro295Ser, XP_047286891.1:p.Pro287Ser, XP_047286886.1:p.Pro287Ser, XP_047286889.1:p.Pro287Ser, XP_047286876.1:p.Pro295Ser, XP_047286885.1:p.Pro287Ser, XP_047286882.1:p.Pro295Ser, XP_047286884.1:p.Pro295Ser, XP_047286881.1:p.Pro295Ser, XP_047286878.1:p.Pro295Ser, XP_047286887.1:p.Pro287Ser, XP_047286877.1:p.Pro295Ser, XP_047286888.1:p.Pro287Ser, XP_047286883.1:p.Pro295Ser, XP_047286890.1:p.Pro287Ser, XP_047286892.1:p.Pro295Ser, XP_047286893.1:p.Pro287Ser, XP_047286895.1:p.Pro287Ser, XP_047286894.1:p.Pro287Ser

                  9.

                  rs1473137633 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    14:51701123 (GRCh38)
                    14:52167841 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:51701122:A:G
                    Gene:
                    FRMD6 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000014.9:g.51701123A>G, NC_000014.8:g.52167841A>G, NM_152330.4:c.258A>G, NM_152330.3:c.258A>G, NM_001042481.3:c.258A>G, NM_001042481.2:c.258A>G, XM_017020968.3:c.258A>G, XM_017020968.2:c.258A>G, XM_017020968.1:c.258A>G, XM_024449475.2:c.258A>G, XM_024449475.1:c.258A>G, XM_024449474.2:c.258A>G, XM_024449474.1:c.258A>G, XM_024449476.2:c.258A>G, XM_024449476.1:c.258A>G, XM_011536424.2:c.258A>G, XM_011536424.1:c.258A>G, XM_006720029.2:c.258A>G, XM_006720029.1:c.258A>G, XM_024449473.2:c.258A>G, XM_024449473.1:c.258A>G, XM_006720030.2:c.258A>G, XM_006720030.1:c.258A>G, NM_001267046.2:c.258A>G, NM_001267046.1:c.258A>G, XM_017020967.2:c.258A>G, XM_017020967.1:c.258A>G, XM_047430923.1:c.258A>G, XM_047430935.1:c.258A>G, XM_047430930.1:c.258A>G, XM_047430933.1:c.258A>G, XM_047430920.1:c.258A>G, XM_047430929.1:c.258A>G, XM_047430926.1:c.258A>G, XM_047430928.1:c.258A>G, XM_047430925.1:c.258A>G, XM_047430922.1:c.258A>G, XM_047430931.1:c.258A>G, XM_047430921.1:c.258A>G, XM_047430932.1:c.258A>G, XM_047430927.1:c.258A>G, XM_047430934.1:c.258A>G, XM_047430936.1:c.258A>G, XM_047430937.1:c.258A>G, XM_047430939.1:c.258A>G, XM_047430938.1:c.258A>G

                    10.

                    rs1472550694 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      14:51698142 (GRCh38)
                      14:52164860 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:51698141:G:C
                      Gene:
                      FRMD6 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000014.9:g.51698142G>C, NC_000014.8:g.52164860G>C, NM_152330.4:c.100G>C, NM_152330.3:c.100G>C, NM_001042481.3:c.100G>C, NM_001042481.2:c.100G>C, XM_017020968.3:c.100G>C, XM_017020968.2:c.100G>C, XM_017020968.1:c.100G>C, XM_024449475.2:c.100G>C, XM_024449475.1:c.100G>C, XM_024449474.2:c.100G>C, XM_024449474.1:c.100G>C, XM_024449476.2:c.100G>C, XM_024449476.1:c.100G>C, XM_011536424.2:c.100G>C, XM_011536424.1:c.100G>C, XM_006720029.2:c.100G>C, XM_006720029.1:c.100G>C, XM_024449473.2:c.100G>C, XM_024449473.1:c.100G>C, XM_006720030.2:c.100G>C, XM_006720030.1:c.100G>C, NM_001267046.2:c.100G>C, NM_001267046.1:c.100G>C, XM_017020967.2:c.100G>C, XM_017020967.1:c.100G>C, XM_047430923.1:c.100G>C, XM_047430935.1:c.100G>C, XM_047430930.1:c.100G>C, XM_047430933.1:c.100G>C, XM_047430920.1:c.100G>C, XM_047430929.1:c.100G>C, XM_047430926.1:c.100G>C, XM_047430928.1:c.100G>C, XM_047430925.1:c.100G>C, XM_047430922.1:c.100G>C, XM_047430931.1:c.100G>C, XM_047430921.1:c.100G>C, XM_047430932.1:c.100G>C, XM_047430927.1:c.100G>C, XM_047430934.1:c.100G>C, XM_047430936.1:c.100G>C, XM_047430937.1:c.100G>C, XM_047430939.1:c.100G>C, XM_047430938.1:c.100G>C, NP_689543.1:p.Val34Leu, NP_001035946.1:p.Val34Leu, XP_016876457.1:p.Val34Leu, XP_024305243.1:p.Val34Leu, XP_024305242.1:p.Val34Leu, XP_024305244.1:p.Val34Leu, XP_011534726.1:p.Val34Leu, XP_006720092.1:p.Val34Leu, XP_024305241.1:p.Val34Leu, XP_006720093.1:p.Val34Leu, NP_001253975.1:p.Val34Leu, XP_016876456.1:p.Val34Leu, XP_047286879.1:p.Val34Leu, XP_047286891.1:p.Val34Leu, XP_047286886.1:p.Val34Leu, XP_047286889.1:p.Val34Leu, XP_047286876.1:p.Val34Leu, XP_047286885.1:p.Val34Leu, XP_047286882.1:p.Val34Leu, XP_047286884.1:p.Val34Leu, XP_047286881.1:p.Val34Leu, XP_047286878.1:p.Val34Leu, XP_047286887.1:p.Val34Leu, XP_047286877.1:p.Val34Leu, XP_047286888.1:p.Val34Leu, XP_047286883.1:p.Val34Leu, XP_047286890.1:p.Val34Leu, XP_047286892.1:p.Val34Leu, XP_047286893.1:p.Val34Leu, XP_047286895.1:p.Val34Leu, XP_047286894.1:p.Val34Leu

                      11.

                      rs1471270226 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        14:51720304 (GRCh38)
                        14:52187022 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:51720303:G:T
                        Gene:
                        FRMD6 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.51720304G>T, NC_000014.8:g.52187022G>T, NM_152330.4:c.1250G>T, NM_152330.3:c.1250G>T, NM_001042481.3:c.1250G>T, NM_001042481.2:c.1250G>T, XM_017020968.3:c.1250G>T, XM_017020968.2:c.1250G>T, XM_017020968.1:c.1250G>T, XM_024449475.2:c.1274G>T, XM_024449475.1:c.1274G>T, XM_024449474.2:c.1274G>T, XM_024449474.1:c.1274G>T, XM_024449476.2:c.1250G>T, XM_024449476.1:c.1250G>T, XM_011536424.2:c.1274G>T, XM_011536424.1:c.1274G>T, XM_006720029.2:c.1274G>T, XM_006720029.1:c.1274G>T, XM_024449473.2:c.1274G>T, XM_024449473.1:c.1274G>T, XM_006720030.2:c.1250G>T, XM_006720030.1:c.1250G>T, NM_001267046.2:c.1274G>T, NM_001267046.1:c.1274G>T, XM_017020967.2:c.1274G>T, XM_017020967.1:c.1274G>T, XM_047430923.1:c.1274G>T, XM_047430935.1:c.1250G>T, XM_047430930.1:c.1250G>T, XM_047430933.1:c.1250G>T, XM_047430920.1:c.1274G>T, XM_047430929.1:c.1250G>T, XM_047430926.1:c.1274G>T, XM_047430928.1:c.1274G>T, XM_047430925.1:c.1274G>T, XM_047430922.1:c.1274G>T, XM_047430931.1:c.1250G>T, XM_047430921.1:c.1274G>T, XM_047430932.1:c.1250G>T, XM_047430927.1:c.1274G>T, XM_047430934.1:c.1250G>T, XM_047430936.1:c.1274G>T, XM_047430937.1:c.1250G>T, NM_001267047.1:c.200G>T, XM_047430939.1:c.1250G>T, XM_047430938.1:c.1250G>T, NP_689543.1:p.Ser417Ile, NP_001035946.1:p.Ser417Ile, XP_016876457.1:p.Ser417Ile, XP_024305243.1:p.Ser425Ile, XP_024305242.1:p.Ser425Ile, XP_024305244.1:p.Ser417Ile, XP_011534726.1:p.Ser425Ile, XP_006720092.1:p.Ser425Ile, XP_024305241.1:p.Ser425Ile, XP_006720093.1:p.Ser417Ile, NP_001253975.1:p.Ser425Ile, XP_016876456.1:p.Ser425Ile, XP_047286879.1:p.Ser425Ile, XP_047286891.1:p.Ser417Ile, XP_047286886.1:p.Ser417Ile, XP_047286889.1:p.Ser417Ile, XP_047286876.1:p.Ser425Ile, XP_047286885.1:p.Ser417Ile, XP_047286882.1:p.Ser425Ile, XP_047286884.1:p.Ser425Ile, XP_047286881.1:p.Ser425Ile, XP_047286878.1:p.Ser425Ile, XP_047286887.1:p.Ser417Ile, XP_047286877.1:p.Ser425Ile, XP_047286888.1:p.Ser417Ile, XP_047286883.1:p.Ser425Ile, XP_047286890.1:p.Ser417Ile, XP_047286892.1:p.Ser425Ile, XP_047286893.1:p.Ser417Ile, NP_001253976.1:p.Ser67Ile, XP_047286895.1:p.Ser417Ile, XP_047286894.1:p.Ser417Ile

                        12.

                        rs1469347442 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:51720348 (GRCh38)
                          14:52187066 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:51720347:A:G
                          Gene:
                          FRMD6 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.51720348A>G, NC_000014.8:g.52187066A>G, NM_152330.4:c.1294A>G, NM_152330.3:c.1294A>G, NM_001042481.3:c.1294A>G, NM_001042481.2:c.1294A>G, XM_017020968.3:c.1294A>G, XM_017020968.2:c.1294A>G, XM_017020968.1:c.1294A>G, XM_024449475.2:c.1318A>G, XM_024449475.1:c.1318A>G, XM_024449474.2:c.1318A>G, XM_024449474.1:c.1318A>G, XM_024449476.2:c.1294A>G, XM_024449476.1:c.1294A>G, XM_011536424.2:c.1318A>G, XM_011536424.1:c.1318A>G, XM_006720029.2:c.1318A>G, XM_006720029.1:c.1318A>G, XM_024449473.2:c.1318A>G, XM_024449473.1:c.1318A>G, XM_006720030.2:c.1294A>G, XM_006720030.1:c.1294A>G, NM_001267046.2:c.1318A>G, NM_001267046.1:c.1318A>G, XM_017020967.2:c.1318A>G, XM_017020967.1:c.1318A>G, XM_047430923.1:c.1318A>G, XM_047430935.1:c.1294A>G, XM_047430930.1:c.1294A>G, XM_047430933.1:c.1294A>G, XM_047430920.1:c.1318A>G, XM_047430929.1:c.1294A>G, XM_047430926.1:c.1318A>G, XM_047430928.1:c.1318A>G, XM_047430925.1:c.1318A>G, XM_047430922.1:c.1318A>G, XM_047430931.1:c.1294A>G, XM_047430921.1:c.1318A>G, XM_047430932.1:c.1294A>G, XM_047430927.1:c.1318A>G, XM_047430934.1:c.1294A>G, XM_047430936.1:c.1318A>G, XM_047430937.1:c.1294A>G, NM_001267047.1:c.244A>G, XM_047430939.1:c.1294A>G, XM_047430938.1:c.1294A>G, NP_689543.1:p.Ser432Gly, NP_001035946.1:p.Ser432Gly, XP_016876457.1:p.Ser432Gly, XP_024305243.1:p.Ser440Gly, XP_024305242.1:p.Ser440Gly, XP_024305244.1:p.Ser432Gly, XP_011534726.1:p.Ser440Gly, XP_006720092.1:p.Ser440Gly, XP_024305241.1:p.Ser440Gly, XP_006720093.1:p.Ser432Gly, NP_001253975.1:p.Ser440Gly, XP_016876456.1:p.Ser440Gly, XP_047286879.1:p.Ser440Gly, XP_047286891.1:p.Ser432Gly, XP_047286886.1:p.Ser432Gly, XP_047286889.1:p.Ser432Gly, XP_047286876.1:p.Ser440Gly, XP_047286885.1:p.Ser432Gly, XP_047286882.1:p.Ser440Gly, XP_047286884.1:p.Ser440Gly, XP_047286881.1:p.Ser440Gly, XP_047286878.1:p.Ser440Gly, XP_047286887.1:p.Ser432Gly, XP_047286877.1:p.Ser440Gly, XP_047286888.1:p.Ser432Gly, XP_047286883.1:p.Ser440Gly, XP_047286890.1:p.Ser432Gly, XP_047286892.1:p.Ser440Gly, XP_047286893.1:p.Ser432Gly, NP_001253976.1:p.Ser82Gly, XP_047286895.1:p.Ser432Gly, XP_047286894.1:p.Ser432Gly

                          13.

                          rs1466454806 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            14:51712549 (GRCh38)
                            14:52179267 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:51712548:G:A,NC_000014.9:51712548:G:C
                            Gene:
                            FRMD6 (Varview)
                            Functional Consequence:
                            missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000014.9:g.51712549G>A, NC_000014.9:g.51712549G>C, NC_000014.8:g.52179267G>A, NC_000014.8:g.52179267G>C, NM_152330.4:c.823G>A, NM_152330.4:c.823G>C, NM_152330.3:c.823G>A, NM_152330.3:c.823G>C, NM_001042481.3:c.823G>A, NM_001042481.3:c.823G>C, NM_001042481.2:c.823G>A, NM_001042481.2:c.823G>C, XM_017020968.3:c.823G>A, XM_017020968.3:c.823G>C, XM_017020968.2:c.823G>A, XM_017020968.2:c.823G>C, XM_017020968.1:c.823G>A, XM_017020968.1:c.823G>C, XM_024449475.2:c.847G>A, XM_024449475.2:c.847G>C, XM_024449475.1:c.847G>A, XM_024449475.1:c.847G>C, XM_024449474.2:c.847G>A, XM_024449474.2:c.847G>C, XM_024449474.1:c.847G>A, XM_024449474.1:c.847G>C, XM_024449476.2:c.823G>A, XM_024449476.2:c.823G>C, XM_024449476.1:c.823G>A, XM_024449476.1:c.823G>C, XM_011536424.2:c.847G>A, XM_011536424.2:c.847G>C, XM_011536424.1:c.847G>A, XM_011536424.1:c.847G>C, XM_006720029.2:c.847G>A, XM_006720029.2:c.847G>C, XM_006720029.1:c.847G>A, XM_006720029.1:c.847G>C, XM_024449473.2:c.847G>A, XM_024449473.2:c.847G>C, XM_024449473.1:c.847G>A, XM_024449473.1:c.847G>C, XM_006720030.2:c.823G>A, XM_006720030.2:c.823G>C, XM_006720030.1:c.823G>A, XM_006720030.1:c.823G>C, NM_001267046.2:c.847G>A, NM_001267046.2:c.847G>C, NM_001267046.1:c.847G>A, NM_001267046.1:c.847G>C, XM_017020967.2:c.847G>A, XM_017020967.2:c.847G>C, XM_017020967.1:c.847G>A, XM_017020967.1:c.847G>C, XM_047430923.1:c.847G>A, XM_047430923.1:c.847G>C, XM_047430935.1:c.823G>A, XM_047430935.1:c.823G>C, XM_047430930.1:c.823G>A, XM_047430930.1:c.823G>C, XM_047430933.1:c.823G>A, XM_047430933.1:c.823G>C, XM_047430920.1:c.847G>A, XM_047430920.1:c.847G>C, XM_047430929.1:c.823G>A, XM_047430929.1:c.823G>C, XM_047430926.1:c.847G>A, XM_047430926.1:c.847G>C, XM_047430928.1:c.847G>A, XM_047430928.1:c.847G>C, XM_047430925.1:c.847G>A, XM_047430925.1:c.847G>C, XM_047430922.1:c.847G>A, XM_047430922.1:c.847G>C, XM_047430931.1:c.823G>A, XM_047430931.1:c.823G>C, XM_047430921.1:c.847G>A, XM_047430921.1:c.847G>C, XM_047430932.1:c.823G>A, XM_047430932.1:c.823G>C, XM_047430927.1:c.847G>A, XM_047430927.1:c.847G>C, XM_047430934.1:c.823G>A, XM_047430934.1:c.823G>C, XM_047430936.1:c.847G>A, XM_047430936.1:c.847G>C, XM_047430937.1:c.823G>A, XM_047430937.1:c.823G>C, XM_047430939.1:c.823G>A, XM_047430939.1:c.823G>C, XM_047430938.1:c.823G>A, XM_047430938.1:c.823G>C, NP_689543.1:p.Val275Met, NP_689543.1:p.Val275Leu, NP_001035946.1:p.Val275Met, NP_001035946.1:p.Val275Leu, XP_016876457.1:p.Val275Met, XP_016876457.1:p.Val275Leu, XP_024305243.1:p.Val283Met, XP_024305243.1:p.Val283Leu, XP_024305242.1:p.Val283Met, XP_024305242.1:p.Val283Leu, XP_024305244.1:p.Val275Met, XP_024305244.1:p.Val275Leu, XP_011534726.1:p.Val283Met, XP_011534726.1:p.Val283Leu, XP_006720092.1:p.Val283Met, XP_006720092.1:p.Val283Leu, XP_024305241.1:p.Val283Met, XP_024305241.1:p.Val283Leu, XP_006720093.1:p.Val275Met, XP_006720093.1:p.Val275Leu, NP_001253975.1:p.Val283Met, NP_001253975.1:p.Val283Leu, XP_016876456.1:p.Val283Met, XP_016876456.1:p.Val283Leu, XP_047286879.1:p.Val283Met, XP_047286879.1:p.Val283Leu, XP_047286891.1:p.Val275Met, XP_047286891.1:p.Val275Leu, XP_047286886.1:p.Val275Met, XP_047286886.1:p.Val275Leu, XP_047286889.1:p.Val275Met, XP_047286889.1:p.Val275Leu, XP_047286876.1:p.Val283Met, XP_047286876.1:p.Val283Leu, XP_047286885.1:p.Val275Met, XP_047286885.1:p.Val275Leu, XP_047286882.1:p.Val283Met, XP_047286882.1:p.Val283Leu, XP_047286884.1:p.Val283Met, XP_047286884.1:p.Val283Leu, XP_047286881.1:p.Val283Met, XP_047286881.1:p.Val283Leu, XP_047286878.1:p.Val283Met, XP_047286878.1:p.Val283Leu, XP_047286887.1:p.Val275Met, XP_047286887.1:p.Val275Leu, XP_047286877.1:p.Val283Met, XP_047286877.1:p.Val283Leu, XP_047286888.1:p.Val275Met, XP_047286888.1:p.Val275Leu, XP_047286883.1:p.Val283Met, XP_047286883.1:p.Val283Leu, XP_047286890.1:p.Val275Met, XP_047286890.1:p.Val275Leu, XP_047286892.1:p.Val283Met, XP_047286892.1:p.Val283Leu, XP_047286893.1:p.Val275Met, XP_047286893.1:p.Val275Leu, XP_047286895.1:p.Val275Met, XP_047286895.1:p.Val275Leu, XP_047286894.1:p.Val275Met, XP_047286894.1:p.Val275Leu

                            14.

                            rs1459440409 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              14:51708088 (GRCh38)
                              14:52174806 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:51708087:A:G
                              Gene:
                              FRMD6 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000014.9:g.51708088A>G, NC_000014.8:g.52174806A>G, NM_152330.4:c.545A>G, NM_152330.3:c.545A>G, NM_001042481.3:c.545A>G, NM_001042481.2:c.545A>G, XM_017020968.3:c.545A>G, XM_017020968.2:c.545A>G, XM_017020968.1:c.545A>G, XM_024449475.2:c.569A>G, XM_024449475.1:c.569A>G, XM_024449474.2:c.569A>G, XM_024449474.1:c.569A>G, XM_024449476.2:c.545A>G, XM_024449476.1:c.545A>G, XM_011536424.2:c.569A>G, XM_011536424.1:c.569A>G, XM_006720029.2:c.569A>G, XM_006720029.1:c.569A>G, XM_024449473.2:c.569A>G, XM_024449473.1:c.569A>G, XM_006720030.2:c.545A>G, XM_006720030.1:c.545A>G, NM_001267046.2:c.569A>G, NM_001267046.1:c.569A>G, XM_017020967.2:c.569A>G, XM_017020967.1:c.569A>G, XM_047430923.1:c.569A>G, XM_047430935.1:c.545A>G, XM_047430930.1:c.545A>G, XM_047430933.1:c.545A>G, XM_047430920.1:c.569A>G, XM_047430929.1:c.545A>G, XM_047430926.1:c.569A>G, XM_047430928.1:c.569A>G, XM_047430925.1:c.569A>G, XM_047430922.1:c.569A>G, XM_047430931.1:c.545A>G, XM_047430921.1:c.569A>G, XM_047430932.1:c.545A>G, XM_047430927.1:c.569A>G, XM_047430934.1:c.545A>G, XM_047430936.1:c.569A>G, XM_047430937.1:c.545A>G, XM_047430939.1:c.545A>G, XM_047430938.1:c.545A>G, NP_689543.1:p.Lys182Arg, NP_001035946.1:p.Lys182Arg, XP_016876457.1:p.Lys182Arg, XP_024305243.1:p.Lys190Arg, XP_024305242.1:p.Lys190Arg, XP_024305244.1:p.Lys182Arg, XP_011534726.1:p.Lys190Arg, XP_006720092.1:p.Lys190Arg, XP_024305241.1:p.Lys190Arg, XP_006720093.1:p.Lys182Arg, NP_001253975.1:p.Lys190Arg, XP_016876456.1:p.Lys190Arg, XP_047286879.1:p.Lys190Arg, XP_047286891.1:p.Lys182Arg, XP_047286886.1:p.Lys182Arg, XP_047286889.1:p.Lys182Arg, XP_047286876.1:p.Lys190Arg, XP_047286885.1:p.Lys182Arg, XP_047286882.1:p.Lys190Arg, XP_047286884.1:p.Lys190Arg, XP_047286881.1:p.Lys190Arg, XP_047286878.1:p.Lys190Arg, XP_047286887.1:p.Lys182Arg, XP_047286877.1:p.Lys190Arg, XP_047286888.1:p.Lys182Arg, XP_047286883.1:p.Lys190Arg, XP_047286890.1:p.Lys182Arg, XP_047286892.1:p.Lys190Arg, XP_047286893.1:p.Lys182Arg, XP_047286895.1:p.Lys182Arg, XP_047286894.1:p.Lys182Arg

                              15.

                              rs1457207088 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                14:51689881 (GRCh38)
                                14:52156599 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:51689880:C:G,NC_000014.9:51689880:C:T
                                Gene:
                                FRMD6 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.51689881C>G, NC_000014.9:g.51689881C>T, NC_000014.8:g.52156599C>G, NC_000014.8:g.52156599C>T, NM_152330.4:c.45C>G, NM_152330.4:c.45C>T, NM_152330.3:c.45C>G, NM_152330.3:c.45C>T, NM_001042481.3:c.45C>G, NM_001042481.3:c.45C>T, NM_001042481.2:c.45C>G, NM_001042481.2:c.45C>T, XM_017020968.3:c.45C>G, XM_017020968.3:c.45C>T, XM_017020968.2:c.45C>G, XM_017020968.2:c.45C>T, XM_017020968.1:c.45C>G, XM_017020968.1:c.45C>T, XM_024449475.2:c.45C>G, XM_024449475.2:c.45C>T, XM_024449475.1:c.45C>G, XM_024449475.1:c.45C>T, XM_024449474.2:c.45C>G, XM_024449474.2:c.45C>T, XM_024449474.1:c.45C>G, XM_024449474.1:c.45C>T, XM_024449476.2:c.45C>G, XM_024449476.2:c.45C>T, XM_024449476.1:c.45C>G, XM_024449476.1:c.45C>T, XM_011536424.2:c.45C>G, XM_011536424.2:c.45C>T, XM_011536424.1:c.45C>G, XM_011536424.1:c.45C>T, XM_006720029.2:c.45C>G, XM_006720029.2:c.45C>T, XM_006720029.1:c.45C>G, XM_006720029.1:c.45C>T, XM_024449473.2:c.45C>G, XM_024449473.2:c.45C>T, XM_024449473.1:c.45C>G, XM_024449473.1:c.45C>T, XM_006720030.2:c.45C>G, XM_006720030.2:c.45C>T, XM_006720030.1:c.45C>G, XM_006720030.1:c.45C>T, NM_001267046.2:c.45C>G, NM_001267046.2:c.45C>T, NM_001267046.1:c.45C>G, NM_001267046.1:c.45C>T, XM_017020967.2:c.45C>G, XM_017020967.2:c.45C>T, XM_017020967.1:c.45C>G, XM_017020967.1:c.45C>T, XM_047430923.1:c.45C>G, XM_047430923.1:c.45C>T, XM_047430935.1:c.45C>G, XM_047430935.1:c.45C>T, XM_047430930.1:c.45C>G, XM_047430930.1:c.45C>T, XM_047430933.1:c.45C>G, XM_047430933.1:c.45C>T, XM_047430920.1:c.45C>G, XM_047430920.1:c.45C>T, XM_047430929.1:c.45C>G, XM_047430929.1:c.45C>T, XM_047430926.1:c.45C>G, XM_047430926.1:c.45C>T, XM_047430928.1:c.45C>G, XM_047430928.1:c.45C>T, XM_047430925.1:c.45C>G, XM_047430925.1:c.45C>T, XM_047430922.1:c.45C>G, XM_047430922.1:c.45C>T, XM_047430931.1:c.45C>G, XM_047430931.1:c.45C>T, XM_047430921.1:c.45C>G, XM_047430921.1:c.45C>T, XM_047430932.1:c.45C>G, XM_047430932.1:c.45C>T, XM_047430927.1:c.45C>G, XM_047430927.1:c.45C>T, XM_047430934.1:c.45C>G, XM_047430934.1:c.45C>T, XM_047430936.1:c.45C>G, XM_047430936.1:c.45C>T, XM_047430937.1:c.45C>G, XM_047430937.1:c.45C>T, XM_047430939.1:c.45C>G, XM_047430939.1:c.45C>T, XM_047430938.1:c.45C>G, XM_047430938.1:c.45C>T

                                16.

                                rs1457092314 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  14:51689848 (GRCh38)
                                  14:52156566 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:51689847:G:A,NC_000014.9:51689847:G:T
                                  Gene:
                                  FRMD6 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000014.9:g.51689848G>A, NC_000014.9:g.51689848G>T, NC_000014.8:g.52156566G>A, NC_000014.8:g.52156566G>T, NM_152330.4:c.12G>A, NM_152330.4:c.12G>T, NM_152330.3:c.12G>A, NM_152330.3:c.12G>T, NM_001042481.3:c.12G>A, NM_001042481.3:c.12G>T, NM_001042481.2:c.12G>A, NM_001042481.2:c.12G>T, XM_017020968.3:c.12G>A, XM_017020968.3:c.12G>T, XM_017020968.2:c.12G>A, XM_017020968.2:c.12G>T, XM_017020968.1:c.12G>A, XM_017020968.1:c.12G>T, XM_024449475.2:c.12G>A, XM_024449475.2:c.12G>T, XM_024449475.1:c.12G>A, XM_024449475.1:c.12G>T, XM_024449474.2:c.12G>A, XM_024449474.2:c.12G>T, XM_024449474.1:c.12G>A, XM_024449474.1:c.12G>T, XM_024449476.2:c.12G>A, XM_024449476.2:c.12G>T, XM_024449476.1:c.12G>A, XM_024449476.1:c.12G>T, XM_011536424.2:c.12G>A, XM_011536424.2:c.12G>T, XM_011536424.1:c.12G>A, XM_011536424.1:c.12G>T, XM_006720029.2:c.12G>A, XM_006720029.2:c.12G>T, XM_006720029.1:c.12G>A, XM_006720029.1:c.12G>T, XM_024449473.2:c.12G>A, XM_024449473.2:c.12G>T, XM_024449473.1:c.12G>A, XM_024449473.1:c.12G>T, XM_006720030.2:c.12G>A, XM_006720030.2:c.12G>T, XM_006720030.1:c.12G>A, XM_006720030.1:c.12G>T, NM_001267046.2:c.12G>A, NM_001267046.2:c.12G>T, NM_001267046.1:c.12G>A, NM_001267046.1:c.12G>T, XM_017020967.2:c.12G>A, XM_017020967.2:c.12G>T, XM_017020967.1:c.12G>A, XM_017020967.1:c.12G>T, XM_047430923.1:c.12G>A, XM_047430923.1:c.12G>T, XM_047430935.1:c.12G>A, XM_047430935.1:c.12G>T, XM_047430930.1:c.12G>A, XM_047430930.1:c.12G>T, XM_047430933.1:c.12G>A, XM_047430933.1:c.12G>T, XM_047430920.1:c.12G>A, XM_047430920.1:c.12G>T, XM_047430929.1:c.12G>A, XM_047430929.1:c.12G>T, XM_047430926.1:c.12G>A, XM_047430926.1:c.12G>T, XM_047430928.1:c.12G>A, XM_047430928.1:c.12G>T, XM_047430925.1:c.12G>A, XM_047430925.1:c.12G>T, XM_047430922.1:c.12G>A, XM_047430922.1:c.12G>T, XM_047430931.1:c.12G>A, XM_047430931.1:c.12G>T, XM_047430921.1:c.12G>A, XM_047430921.1:c.12G>T, XM_047430932.1:c.12G>A, XM_047430932.1:c.12G>T, XM_047430927.1:c.12G>A, XM_047430927.1:c.12G>T, XM_047430934.1:c.12G>A, XM_047430934.1:c.12G>T, XM_047430936.1:c.12G>A, XM_047430936.1:c.12G>T, XM_047430937.1:c.12G>A, XM_047430937.1:c.12G>T, XM_047430939.1:c.12G>A, XM_047430939.1:c.12G>T, XM_047430938.1:c.12G>A, XM_047430938.1:c.12G>T, NP_689543.1:p.Leu4Phe, NP_001035946.1:p.Leu4Phe, XP_016876457.1:p.Leu4Phe, XP_024305243.1:p.Leu4Phe, XP_024305242.1:p.Leu4Phe, XP_024305244.1:p.Leu4Phe, XP_011534726.1:p.Leu4Phe, XP_006720092.1:p.Leu4Phe, XP_024305241.1:p.Leu4Phe, XP_006720093.1:p.Leu4Phe, NP_001253975.1:p.Leu4Phe, XP_016876456.1:p.Leu4Phe, XP_047286879.1:p.Leu4Phe, XP_047286891.1:p.Leu4Phe, XP_047286886.1:p.Leu4Phe, XP_047286889.1:p.Leu4Phe, XP_047286876.1:p.Leu4Phe, XP_047286885.1:p.Leu4Phe, XP_047286882.1:p.Leu4Phe, XP_047286884.1:p.Leu4Phe, XP_047286881.1:p.Leu4Phe, XP_047286878.1:p.Leu4Phe, XP_047286887.1:p.Leu4Phe, XP_047286877.1:p.Leu4Phe, XP_047286888.1:p.Leu4Phe, XP_047286883.1:p.Leu4Phe, XP_047286890.1:p.Leu4Phe, XP_047286892.1:p.Leu4Phe, XP_047286893.1:p.Leu4Phe, XP_047286895.1:p.Leu4Phe, XP_047286894.1:p.Leu4Phe

                                  17.

                                  rs1455772266 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:51698159 (GRCh38)
                                    14:52164877 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:51698158:C:T
                                    Gene:
                                    FRMD6 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.51698159C>T, NC_000014.8:g.52164877C>T, NM_152330.4:c.117C>T, NM_152330.3:c.117C>T, NM_001042481.3:c.117C>T, NM_001042481.2:c.117C>T, XM_017020968.3:c.117C>T, XM_017020968.2:c.117C>T, XM_017020968.1:c.117C>T, XM_024449475.2:c.117C>T, XM_024449475.1:c.117C>T, XM_024449474.2:c.117C>T, XM_024449474.1:c.117C>T, XM_024449476.2:c.117C>T, XM_024449476.1:c.117C>T, XM_011536424.2:c.117C>T, XM_011536424.1:c.117C>T, XM_006720029.2:c.117C>T, XM_006720029.1:c.117C>T, XM_024449473.2:c.117C>T, XM_024449473.1:c.117C>T, XM_006720030.2:c.117C>T, XM_006720030.1:c.117C>T, NM_001267046.2:c.117C>T, NM_001267046.1:c.117C>T, XM_017020967.2:c.117C>T, XM_017020967.1:c.117C>T, XM_047430923.1:c.117C>T, XM_047430935.1:c.117C>T, XM_047430930.1:c.117C>T, XM_047430933.1:c.117C>T, XM_047430920.1:c.117C>T, XM_047430929.1:c.117C>T, XM_047430926.1:c.117C>T, XM_047430928.1:c.117C>T, XM_047430925.1:c.117C>T, XM_047430922.1:c.117C>T, XM_047430931.1:c.117C>T, XM_047430921.1:c.117C>T, XM_047430932.1:c.117C>T, XM_047430927.1:c.117C>T, XM_047430934.1:c.117C>T, XM_047430936.1:c.117C>T, XM_047430937.1:c.117C>T, XM_047430939.1:c.117C>T, XM_047430938.1:c.117C>T

                                    18.

                                    rs1451208613 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:51722001 (GRCh38)
                                      14:52188719 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:51722000:G:A
                                      Gene:
                                      FRMD6 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.51722001G>A, NC_000014.8:g.52188719G>A, NM_152330.4:c.1389G>A, NM_152330.3:c.1389G>A, NM_001042481.3:c.1389G>A, NM_001042481.2:c.1389G>A, XM_017020968.3:c.1389G>A, XM_017020968.2:c.1389G>A, XM_017020968.1:c.1389G>A, XM_024449475.2:c.1413G>A, XM_024449475.1:c.1413G>A, XM_024449474.2:c.1413G>A, XM_024449474.1:c.1413G>A, XM_024449476.2:c.1389G>A, XM_024449476.1:c.1389G>A, XM_011536424.2:c.1413G>A, XM_011536424.1:c.1413G>A, XM_006720029.2:c.1413G>A, XM_006720029.1:c.1413G>A, XM_024449473.2:c.1413G>A, XM_024449473.1:c.1413G>A, XM_006720030.2:c.1389G>A, XM_006720030.1:c.1389G>A, NM_001267046.2:c.1413G>A, NM_001267046.1:c.1413G>A, XM_017020967.2:c.1413G>A, XM_017020967.1:c.1413G>A, XM_047430923.1:c.1413G>A, XM_047430935.1:c.1389G>A, XM_047430930.1:c.1389G>A, XM_047430933.1:c.1389G>A, XM_047430920.1:c.1413G>A, XM_047430929.1:c.1389G>A, XM_047430926.1:c.1413G>A, XM_047430928.1:c.1413G>A, XM_047430925.1:c.1413G>A, XM_047430922.1:c.1413G>A, XM_047430931.1:c.1389G>A, XM_047430921.1:c.1413G>A, XM_047430932.1:c.1389G>A, XM_047430927.1:c.1413G>A, XM_047430934.1:c.1389G>A, XM_047430936.1:c.1413G>A, XM_047430937.1:c.1389G>A, NM_001267047.1:c.339G>A, XM_047430939.1:c.1389G>A, XM_047430938.1:c.1389G>A

                                      19.

                                      rs1450641446 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        14:51702513 (GRCh38)
                                        14:52169231 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:51702512:G:T
                                        Gene:
                                        FRMD6 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000014.9:g.51702513G>T, NC_000014.8:g.52169231G>T, NM_152330.4:c.272G>T, NM_152330.3:c.272G>T, NM_001042481.3:c.272G>T, NM_001042481.2:c.272G>T, XM_017020968.3:c.272G>T, XM_017020968.2:c.272G>T, XM_017020968.1:c.272G>T, XM_024449475.2:c.296G>T, XM_024449475.1:c.296G>T, XM_024449474.2:c.296G>T, XM_024449474.1:c.296G>T, XM_024449476.2:c.272G>T, XM_024449476.1:c.272G>T, XM_011536424.2:c.296G>T, XM_011536424.1:c.296G>T, XM_006720029.2:c.296G>T, XM_006720029.1:c.296G>T, XM_024449473.2:c.296G>T, XM_024449473.1:c.296G>T, XM_006720030.2:c.272G>T, XM_006720030.1:c.272G>T, NM_001267046.2:c.296G>T, NM_001267046.1:c.296G>T, XM_017020967.2:c.296G>T, XM_017020967.1:c.296G>T, XM_047430923.1:c.296G>T, XM_047430935.1:c.272G>T, XM_047430930.1:c.272G>T, XM_047430933.1:c.272G>T, XM_047430920.1:c.296G>T, XM_047430929.1:c.272G>T, XM_047430926.1:c.296G>T, XM_047430928.1:c.296G>T, XM_047430925.1:c.296G>T, XM_047430922.1:c.296G>T, XM_047430931.1:c.272G>T, XM_047430921.1:c.296G>T, XM_047430932.1:c.272G>T, XM_047430927.1:c.296G>T, XM_047430934.1:c.272G>T, XM_047430936.1:c.296G>T, XM_047430937.1:c.272G>T, XM_047430939.1:c.272G>T, XM_047430938.1:c.272G>T, NP_689543.1:p.Gly91Val, NP_001035946.1:p.Gly91Val, XP_016876457.1:p.Gly91Val, XP_024305243.1:p.Gly99Val, XP_024305242.1:p.Gly99Val, XP_024305244.1:p.Gly91Val, XP_011534726.1:p.Gly99Val, XP_006720092.1:p.Gly99Val, XP_024305241.1:p.Gly99Val, XP_006720093.1:p.Gly91Val, NP_001253975.1:p.Gly99Val, XP_016876456.1:p.Gly99Val, XP_047286879.1:p.Gly99Val, XP_047286891.1:p.Gly91Val, XP_047286886.1:p.Gly91Val, XP_047286889.1:p.Gly91Val, XP_047286876.1:p.Gly99Val, XP_047286885.1:p.Gly91Val, XP_047286882.1:p.Gly99Val, XP_047286884.1:p.Gly99Val, XP_047286881.1:p.Gly99Val, XP_047286878.1:p.Gly99Val, XP_047286887.1:p.Gly91Val, XP_047286877.1:p.Gly99Val, XP_047286888.1:p.Gly91Val, XP_047286883.1:p.Gly99Val, XP_047286890.1:p.Gly91Val, XP_047286892.1:p.Gly99Val, XP_047286893.1:p.Gly91Val, XP_047286895.1:p.Gly91Val, XP_047286894.1:p.Gly91Val

                                        20.

                                        rs1446499168 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:51689856 (GRCh38)
                                          14:52156574 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:51689855:A:G
                                          Gene:
                                          FRMD6 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000014.9:g.51689856A>G, NC_000014.8:g.52156574A>G, NM_152330.4:c.20A>G, NM_152330.3:c.20A>G, NM_001042481.3:c.20A>G, NM_001042481.2:c.20A>G, XM_017020968.3:c.20A>G, XM_017020968.2:c.20A>G, XM_017020968.1:c.20A>G, XM_024449475.2:c.20A>G, XM_024449475.1:c.20A>G, XM_024449474.2:c.20A>G, XM_024449474.1:c.20A>G, XM_024449476.2:c.20A>G, XM_024449476.1:c.20A>G, XM_011536424.2:c.20A>G, XM_011536424.1:c.20A>G, XM_006720029.2:c.20A>G, XM_006720029.1:c.20A>G, XM_024449473.2:c.20A>G, XM_024449473.1:c.20A>G, XM_006720030.2:c.20A>G, XM_006720030.1:c.20A>G, NM_001267046.2:c.20A>G, NM_001267046.1:c.20A>G, XM_017020967.2:c.20A>G, XM_017020967.1:c.20A>G, XM_047430923.1:c.20A>G, XM_047430935.1:c.20A>G, XM_047430930.1:c.20A>G, XM_047430933.1:c.20A>G, XM_047430920.1:c.20A>G, XM_047430929.1:c.20A>G, XM_047430926.1:c.20A>G, XM_047430928.1:c.20A>G, XM_047430925.1:c.20A>G, XM_047430922.1:c.20A>G, XM_047430931.1:c.20A>G, XM_047430921.1:c.20A>G, XM_047430932.1:c.20A>G, XM_047430927.1:c.20A>G, XM_047430934.1:c.20A>G, XM_047430936.1:c.20A>G, XM_047430937.1:c.20A>G, XM_047430939.1:c.20A>G, XM_047430938.1:c.20A>G, NP_689543.1:p.His7Arg, NP_001035946.1:p.His7Arg, XP_016876457.1:p.His7Arg, XP_024305243.1:p.His7Arg, XP_024305242.1:p.His7Arg, XP_024305244.1:p.His7Arg, XP_011534726.1:p.His7Arg, XP_006720092.1:p.His7Arg, XP_024305241.1:p.His7Arg, XP_006720093.1:p.His7Arg, NP_001253975.1:p.His7Arg, XP_016876456.1:p.His7Arg, XP_047286879.1:p.His7Arg, XP_047286891.1:p.His7Arg, XP_047286886.1:p.His7Arg, XP_047286889.1:p.His7Arg, XP_047286876.1:p.His7Arg, XP_047286885.1:p.His7Arg, XP_047286882.1:p.His7Arg, XP_047286884.1:p.His7Arg, XP_047286881.1:p.His7Arg, XP_047286878.1:p.His7Arg, XP_047286887.1:p.His7Arg, XP_047286877.1:p.His7Arg, XP_047286888.1:p.His7Arg, XP_047286883.1:p.His7Arg, XP_047286890.1:p.His7Arg, XP_047286892.1:p.His7Arg, XP_047286893.1:p.His7Arg, XP_047286895.1:p.His7Arg, XP_047286894.1:p.His7Arg

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