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Items: 1 to 20 of 1000

1.

rs1490334086 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    22:43537443 (GRCh38)
    22:43933323 (GRCh37)
    Canonical SPDI:
    NC_000022.11:43537442:G:C
    Gene:
    EFCAB6 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000022.11:g.43537443G>C, NC_000022.10:g.43933323G>C, NG_030019.1:g.279895C>G, NM_022785.4:c.3982C>G, NM_022785.3:c.3982C>G, NM_198856.3:c.3526C>G, NM_198856.2:c.3526C>G, XM_011530318.4:c.3904C>G, XM_011530318.3:c.3904C>G, XM_011530318.2:c.3904C>G, XM_011530318.1:c.3904C>G, XM_011530317.4:c.3982C>G, XM_011530317.3:c.3982C>G, XM_011530317.2:c.3982C>G, XM_011530317.1:c.3982C>G, XM_011530320.4:c.4060C>G, XM_011530320.3:c.4060C>G, XM_011530320.2:c.4060C>G, XM_011530320.1:c.4060C>G, XM_011530319.4:c.3664C>G, XM_011530319.3:c.3664C>G, XM_011530319.2:c.3664C>G, XM_011530319.1:c.3664C>G, XM_011530321.4:c.3526C>G, XM_011530321.3:c.3526C>G, XM_011530321.2:c.3526C>G, XM_011530321.1:c.3526C>G, XM_017028910.3:c.4060C>G, XM_017028910.2:c.4060C>G, XM_017028910.1:c.4060C>G, XM_005261704.3:c.3982C>G, XM_005261704.2:c.3982C>G, XM_005261704.1:c.3982C>G, XM_017028911.3:c.4060C>G, XM_017028911.2:c.4060C>G, XM_017028911.1:c.4060C>G, XM_011530323.3:c.3520C>G, XM_011530323.2:c.3520C>G, XM_011530323.1:c.3520C>G, XM_011530325.3:c.3238C>G, XM_011530325.2:c.3238C>G, XM_011530325.1:c.3238C>G, XM_011530327.3:c.3058C>G, XM_011530327.2:c.3058C>G, XM_011530327.1:c.3058C>G, XM_011530316.2:c.4060C>G, XM_011530316.1:c.4060C>G, XM_047441461.1:c.3526C>G, XR_007067980.1:n.4371C>G, XM_047441462.1:c.3508C>G, XM_047441464.1:c.1876C>G, NP_073622.2:p.Leu1328Val, NP_942153.1:p.Leu1176Val, XP_011528620.1:p.Leu1302Val, XP_011528619.1:p.Leu1328Val, XP_011528622.1:p.Leu1354Val, XP_011528621.1:p.Leu1222Val, XP_011528623.1:p.Leu1176Val, XP_016884399.1:p.Leu1354Val, XP_005261761.1:p.Leu1328Val, XP_016884400.1:p.Leu1354Val, XP_011528625.1:p.Leu1174Val, XP_011528627.1:p.Leu1080Val, XP_011528629.1:p.Leu1020Val, XP_011528618.1:p.Leu1354Val, XP_047297417.1:p.Leu1176Val, XP_047297418.1:p.Leu1170Val, XP_047297420.1:p.Leu626Val

    2.

    rs1489975008 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      22:43716857 (GRCh38)
      22:44112737 (GRCh37)
      Canonical SPDI:
      NC_000022.11:43716856:A:G
      Gene:
      EFCAB6 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000047/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.43716857A>G, NC_000022.10:g.44112737A>G, NG_030019.1:g.100481T>C, NM_022785.4:c.873T>C, NM_022785.3:c.873T>C, NM_198856.3:c.417T>C, NM_198856.2:c.417T>C, XM_011530318.4:c.795T>C, XM_011530318.3:c.795T>C, XM_011530318.2:c.795T>C, XM_011530318.1:c.795T>C, XM_011530317.4:c.873T>C, XM_011530317.3:c.873T>C, XM_011530317.2:c.873T>C, XM_011530317.1:c.873T>C, XM_011530320.4:c.951T>C, XM_011530320.3:c.951T>C, XM_011530320.2:c.951T>C, XM_011530320.1:c.951T>C, XM_011530319.4:c.555T>C, XM_011530319.3:c.555T>C, XM_011530319.2:c.555T>C, XM_011530319.1:c.555T>C, XM_011530321.4:c.417T>C, XM_011530321.3:c.417T>C, XM_011530321.2:c.417T>C, XM_011530321.1:c.417T>C, XM_011530326.4:c.951T>C, XM_011530326.3:c.951T>C, XM_011530326.2:c.951T>C, XM_011530326.1:c.951T>C, XM_011530328.4:c.951T>C, XM_011530328.3:c.951T>C, XM_011530328.2:c.951T>C, XM_011530328.1:c.951T>C, XM_011530330.4:c.951T>C, XM_011530330.3:c.951T>C, XM_011530330.2:c.951T>C, XM_011530330.1:c.951T>C, XM_017028910.3:c.951T>C, XM_017028910.2:c.951T>C, XM_017028910.1:c.951T>C, XM_005261704.3:c.873T>C, XM_005261704.2:c.873T>C, XM_005261704.1:c.873T>C, XM_017028911.3:c.951T>C, XM_017028911.2:c.951T>C, XM_017028911.1:c.951T>C, XM_011530323.3:c.411T>C, XM_011530323.2:c.411T>C, XM_011530323.1:c.411T>C, XM_011530325.3:c.129T>C, XM_011530325.2:c.129T>C, XM_011530325.1:c.129T>C, XM_011530316.2:c.951T>C, XM_011530316.1:c.951T>C, XM_047441461.1:c.417T>C, XR_007067980.1:n.1262T>C, XM_047441462.1:c.399T>C, XM_047441463.1:c.951T>C, XM_047441465.1:c.951T>C

      3.

      rs1488712423 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        22:43678079 (GRCh38)
        22:44073959 (GRCh37)
        Canonical SPDI:
        NC_000022.11:43678078:C:A,NC_000022.11:43678078:C:T
        Gene:
        EFCAB6 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
        HGVS:
        NC_000022.11:g.43678079C>A, NC_000022.11:g.43678079C>T, NC_000022.10:g.44073959C>A, NC_000022.10:g.44073959C>T, NG_030019.1:g.139259G>T, NG_030019.1:g.139259G>A, NM_022785.4:c.1336G>T, NM_022785.4:c.1336G>A, NM_022785.3:c.1336G>T, NM_022785.3:c.1336G>A, NM_198856.3:c.880G>T, NM_198856.3:c.880G>A, NM_198856.2:c.880G>T, NM_198856.2:c.880G>A, XM_011530318.4:c.1258G>T, XM_011530318.4:c.1258G>A, XM_011530318.3:c.1258G>T, XM_011530318.3:c.1258G>A, XM_011530318.2:c.1258G>T, XM_011530318.2:c.1258G>A, XM_011530318.1:c.1258G>T, XM_011530318.1:c.1258G>A, XM_011530317.4:c.1336G>T, XM_011530317.4:c.1336G>A, XM_011530317.3:c.1336G>T, XM_011530317.3:c.1336G>A, XM_011530317.2:c.1336G>T, XM_011530317.2:c.1336G>A, XM_011530317.1:c.1336G>T, XM_011530317.1:c.1336G>A, XM_011530320.4:c.1414G>T, XM_011530320.4:c.1414G>A, XM_011530320.3:c.1414G>T, XM_011530320.3:c.1414G>A, XM_011530320.2:c.1414G>T, XM_011530320.2:c.1414G>A, XM_011530320.1:c.1414G>T, XM_011530320.1:c.1414G>A, XM_011530319.4:c.1018G>T, XM_011530319.4:c.1018G>A, XM_011530319.3:c.1018G>T, XM_011530319.3:c.1018G>A, XM_011530319.2:c.1018G>T, XM_011530319.2:c.1018G>A, XM_011530319.1:c.1018G>T, XM_011530319.1:c.1018G>A, XM_011530321.4:c.880G>T, XM_011530321.4:c.880G>A, XM_011530321.3:c.880G>T, XM_011530321.3:c.880G>A, XM_011530321.2:c.880G>T, XM_011530321.2:c.880G>A, XM_011530321.1:c.880G>T, XM_011530321.1:c.880G>A, XM_011530326.4:c.1414G>T, XM_011530326.4:c.1414G>A, XM_011530326.3:c.1414G>T, XM_011530326.3:c.1414G>A, XM_011530326.2:c.1414G>T, XM_011530326.2:c.1414G>A, XM_011530326.1:c.1414G>T, XM_011530326.1:c.1414G>A, XM_011530328.4:c.1414G>T, XM_011530328.4:c.1414G>A, XM_011530328.3:c.1414G>T, XM_011530328.3:c.1414G>A, XM_011530328.2:c.1414G>T, XM_011530328.2:c.1414G>A, XM_011530328.1:c.1414G>T, XM_011530328.1:c.1414G>A, XM_011530330.4:c.1414G>T, XM_011530330.4:c.1414G>A, XM_011530330.3:c.1414G>T, XM_011530330.3:c.1414G>A, XM_011530330.2:c.1414G>T, XM_011530330.2:c.1414G>A, XM_011530330.1:c.1414G>T, XM_011530330.1:c.1414G>A, XM_017028910.3:c.1414G>T, XM_017028910.3:c.1414G>A, XM_017028910.2:c.1414G>T, XM_017028910.2:c.1414G>A, XM_017028910.1:c.1414G>T, XM_017028910.1:c.1414G>A, XM_005261704.3:c.1336G>T, XM_005261704.3:c.1336G>A, XM_005261704.2:c.1336G>T, XM_005261704.2:c.1336G>A, XM_005261704.1:c.1336G>T, XM_005261704.1:c.1336G>A, XM_017028911.3:c.1414G>T, XM_017028911.3:c.1414G>A, XM_017028911.2:c.1414G>T, XM_017028911.2:c.1414G>A, XM_017028911.1:c.1414G>T, XM_017028911.1:c.1414G>A, XM_011530323.3:c.874G>T, XM_011530323.3:c.874G>A, XM_011530323.2:c.874G>T, XM_011530323.2:c.874G>A, XM_011530323.1:c.874G>T, XM_011530323.1:c.874G>A, XM_011530325.3:c.592G>T, XM_011530325.3:c.592G>A, XM_011530325.2:c.592G>T, XM_011530325.2:c.592G>A, XM_011530325.1:c.592G>T, XM_011530325.1:c.592G>A, XM_011530327.3:c.412G>T, XM_011530327.3:c.412G>A, XM_011530327.2:c.412G>T, XM_011530327.2:c.412G>A, XM_011530327.1:c.412G>T, XM_011530327.1:c.412G>A, XM_011530316.2:c.1414G>T, XM_011530316.2:c.1414G>A, XM_011530316.1:c.1414G>T, XM_011530316.1:c.1414G>A, XM_047441461.1:c.880G>T, XM_047441461.1:c.880G>A, XR_007067980.1:n.1725G>T, XR_007067980.1:n.1725G>A, XM_047441462.1:c.862G>T, XM_047441462.1:c.862G>A, XM_047441463.1:c.1414G>T, XM_047441463.1:c.1414G>A, XM_047441465.1:c.1414G>T, XM_047441465.1:c.1414G>A, NP_073622.2:p.Glu446Ter, NP_073622.2:p.Glu446Lys, NP_942153.1:p.Glu294Ter, NP_942153.1:p.Glu294Lys, XP_011528620.1:p.Glu420Ter, XP_011528620.1:p.Glu420Lys, XP_011528619.1:p.Glu446Ter, XP_011528619.1:p.Glu446Lys, XP_011528622.1:p.Glu472Ter, XP_011528622.1:p.Glu472Lys, XP_011528621.1:p.Glu340Ter, XP_011528621.1:p.Glu340Lys, XP_011528623.1:p.Glu294Ter, XP_011528623.1:p.Glu294Lys, XP_011528628.1:p.Glu472Ter, XP_011528628.1:p.Glu472Lys, XP_011528630.1:p.Glu472Ter, XP_011528630.1:p.Glu472Lys, XP_011528632.1:p.Glu472Ter, XP_011528632.1:p.Glu472Lys, XP_016884399.1:p.Glu472Ter, XP_016884399.1:p.Glu472Lys, XP_005261761.1:p.Glu446Ter, XP_005261761.1:p.Glu446Lys, XP_016884400.1:p.Glu472Ter, XP_016884400.1:p.Glu472Lys, XP_011528625.1:p.Glu292Ter, XP_011528625.1:p.Glu292Lys, XP_011528627.1:p.Glu198Ter, XP_011528627.1:p.Glu198Lys, XP_011528629.1:p.Glu138Ter, XP_011528629.1:p.Glu138Lys, XP_011528618.1:p.Glu472Ter, XP_011528618.1:p.Glu472Lys, XP_047297417.1:p.Glu294Ter, XP_047297417.1:p.Glu294Lys, XP_047297418.1:p.Glu288Ter, XP_047297418.1:p.Glu288Lys, XP_047297419.1:p.Glu472Ter, XP_047297419.1:p.Glu472Lys, XP_047297421.1:p.Glu472Ter, XP_047297421.1:p.Glu472Lys

        4.

        rs1487819601 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          22:43678155 (GRCh38)
          22:44074035 (GRCh37)
          Canonical SPDI:
          NC_000022.11:43678154:A:G
          Gene:
          EFCAB6 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.43678155A>G, NC_000022.10:g.44074035A>G, NG_030019.1:g.139183T>C, NM_022785.4:c.1260T>C, NM_022785.3:c.1260T>C, NM_198856.3:c.804T>C, NM_198856.2:c.804T>C, XM_011530318.4:c.1182T>C, XM_011530318.3:c.1182T>C, XM_011530318.2:c.1182T>C, XM_011530318.1:c.1182T>C, XM_011530317.4:c.1260T>C, XM_011530317.3:c.1260T>C, XM_011530317.2:c.1260T>C, XM_011530317.1:c.1260T>C, XM_011530320.4:c.1338T>C, XM_011530320.3:c.1338T>C, XM_011530320.2:c.1338T>C, XM_011530320.1:c.1338T>C, XM_011530319.4:c.942T>C, XM_011530319.3:c.942T>C, XM_011530319.2:c.942T>C, XM_011530319.1:c.942T>C, XM_011530321.4:c.804T>C, XM_011530321.3:c.804T>C, XM_011530321.2:c.804T>C, XM_011530321.1:c.804T>C, XM_011530326.4:c.1338T>C, XM_011530326.3:c.1338T>C, XM_011530326.2:c.1338T>C, XM_011530326.1:c.1338T>C, XM_011530328.4:c.1338T>C, XM_011530328.3:c.1338T>C, XM_011530328.2:c.1338T>C, XM_011530328.1:c.1338T>C, XM_011530330.4:c.1338T>C, XM_011530330.3:c.1338T>C, XM_011530330.2:c.1338T>C, XM_011530330.1:c.1338T>C, XM_017028910.3:c.1338T>C, XM_017028910.2:c.1338T>C, XM_017028910.1:c.1338T>C, XM_005261704.3:c.1260T>C, XM_005261704.2:c.1260T>C, XM_005261704.1:c.1260T>C, XM_017028911.3:c.1338T>C, XM_017028911.2:c.1338T>C, XM_017028911.1:c.1338T>C, XM_011530323.3:c.798T>C, XM_011530323.2:c.798T>C, XM_011530323.1:c.798T>C, XM_011530325.3:c.516T>C, XM_011530325.2:c.516T>C, XM_011530325.1:c.516T>C, XM_011530327.3:c.336T>C, XM_011530327.2:c.336T>C, XM_011530327.1:c.336T>C, XM_011530316.2:c.1338T>C, XM_011530316.1:c.1338T>C, XM_047441461.1:c.804T>C, XR_007067980.1:n.1649T>C, XM_047441462.1:c.786T>C, XM_047441463.1:c.1338T>C, XM_047441465.1:c.1338T>C

          5.

          rs1487565789 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            22:43540234 (GRCh38)
            22:43936114 (GRCh37)
            Canonical SPDI:
            NC_000022.11:43540233:C:T
            Gene:
            EFCAB6 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000015/4 (TOPMED)
            HGVS:
            NC_000022.11:g.43540234C>T, NC_000022.10:g.43936114C>T, NG_030019.1:g.277104G>A, NM_022785.4:c.3772G>A, NM_022785.3:c.3772G>A, NM_198856.3:c.3316G>A, NM_198856.2:c.3316G>A, XM_011530318.4:c.3694G>A, XM_011530318.3:c.3694G>A, XM_011530318.2:c.3694G>A, XM_011530318.1:c.3694G>A, XM_011530317.4:c.3772G>A, XM_011530317.3:c.3772G>A, XM_011530317.2:c.3772G>A, XM_011530317.1:c.3772G>A, XM_011530320.4:c.3850G>A, XM_011530320.3:c.3850G>A, XM_011530320.2:c.3850G>A, XM_011530320.1:c.3850G>A, XM_011530319.4:c.3454G>A, XM_011530319.3:c.3454G>A, XM_011530319.2:c.3454G>A, XM_011530319.1:c.3454G>A, XM_011530321.4:c.3316G>A, XM_011530321.3:c.3316G>A, XM_011530321.2:c.3316G>A, XM_011530321.1:c.3316G>A, XM_017028910.3:c.3850G>A, XM_017028910.2:c.3850G>A, XM_017028910.1:c.3850G>A, XM_005261704.3:c.3772G>A, XM_005261704.2:c.3772G>A, XM_005261704.1:c.3772G>A, XM_017028911.3:c.3850G>A, XM_017028911.2:c.3850G>A, XM_017028911.1:c.3850G>A, XM_011530323.3:c.3310G>A, XM_011530323.2:c.3310G>A, XM_011530323.1:c.3310G>A, XM_011530325.3:c.3028G>A, XM_011530325.2:c.3028G>A, XM_011530325.1:c.3028G>A, XM_011530327.3:c.2848G>A, XM_011530327.2:c.2848G>A, XM_011530327.1:c.2848G>A, XM_011530316.2:c.3850G>A, XM_011530316.1:c.3850G>A, XM_047441461.1:c.3316G>A, XR_007067980.1:n.4161G>A, XM_047441462.1:c.3298G>A, XM_047441464.1:c.1666G>A, NP_073622.2:p.Ala1258Thr, NP_942153.1:p.Ala1106Thr, XP_011528620.1:p.Ala1232Thr, XP_011528619.1:p.Ala1258Thr, XP_011528622.1:p.Ala1284Thr, XP_011528621.1:p.Ala1152Thr, XP_011528623.1:p.Ala1106Thr, XP_016884399.1:p.Ala1284Thr, XP_005261761.1:p.Ala1258Thr, XP_016884400.1:p.Ala1284Thr, XP_011528625.1:p.Ala1104Thr, XP_011528627.1:p.Ala1010Thr, XP_011528629.1:p.Ala950Thr, XP_011528618.1:p.Ala1284Thr, XP_047297417.1:p.Ala1106Thr, XP_047297418.1:p.Ala1100Thr, XP_047297420.1:p.Ala556Thr

            6.

            rs1487528782 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              22:43554965 (GRCh38)
              22:43950845 (GRCh37)
              Canonical SPDI:
              NC_000022.11:43554964:C:A
              Gene:
              EFCAB6 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000022.11:g.43554965C>A, NC_000022.10:g.43950845C>A, NG_030019.1:g.262373G>T, NM_022785.4:c.3552G>T, NM_022785.3:c.3552G>T, NM_198856.3:c.3096G>T, NM_198856.2:c.3096G>T, XM_011530318.4:c.3474G>T, XM_011530318.3:c.3474G>T, XM_011530318.2:c.3474G>T, XM_011530318.1:c.3474G>T, XM_011530317.4:c.3552G>T, XM_011530317.3:c.3552G>T, XM_011530317.2:c.3552G>T, XM_011530317.1:c.3552G>T, XM_011530320.4:c.3630G>T, XM_011530320.3:c.3630G>T, XM_011530320.2:c.3630G>T, XM_011530320.1:c.3630G>T, XM_011530319.4:c.3234G>T, XM_011530319.3:c.3234G>T, XM_011530319.2:c.3234G>T, XM_011530319.1:c.3234G>T, XM_011530321.4:c.3096G>T, XM_011530321.3:c.3096G>T, XM_011530321.2:c.3096G>T, XM_011530321.1:c.3096G>T, XM_011530326.4:c.3630G>T, XM_011530326.3:c.3630G>T, XM_011530326.2:c.3630G>T, XM_011530326.1:c.3630G>T, XM_017028910.3:c.3630G>T, XM_017028910.2:c.3630G>T, XM_017028910.1:c.3630G>T, XM_005261704.3:c.3552G>T, XM_005261704.2:c.3552G>T, XM_005261704.1:c.3552G>T, XM_017028911.3:c.3630G>T, XM_017028911.2:c.3630G>T, XM_017028911.1:c.3630G>T, XM_011530323.3:c.3090G>T, XM_011530323.2:c.3090G>T, XM_011530323.1:c.3090G>T, XM_011530325.3:c.2808G>T, XM_011530325.2:c.2808G>T, XM_011530325.1:c.2808G>T, XM_011530327.3:c.2628G>T, XM_011530327.2:c.2628G>T, XM_011530327.1:c.2628G>T, XM_011530316.2:c.3630G>T, XM_011530316.1:c.3630G>T, XM_047441461.1:c.3096G>T, XR_007067980.1:n.3941G>T, XM_047441462.1:c.3078G>T, XM_047441464.1:c.1446G>T, NP_073622.2:p.Glu1184Asp, NP_942153.1:p.Glu1032Asp, XP_011528620.1:p.Glu1158Asp, XP_011528619.1:p.Glu1184Asp, XP_011528622.1:p.Glu1210Asp, XP_011528621.1:p.Glu1078Asp, XP_011528623.1:p.Glu1032Asp, XP_011528628.1:p.Glu1210Asp, XP_016884399.1:p.Glu1210Asp, XP_005261761.1:p.Glu1184Asp, XP_016884400.1:p.Glu1210Asp, XP_011528625.1:p.Glu1030Asp, XP_011528627.1:p.Glu936Asp, XP_011528629.1:p.Glu876Asp, XP_011528618.1:p.Glu1210Asp, XP_047297417.1:p.Glu1032Asp, XP_047297418.1:p.Glu1026Asp, XP_047297420.1:p.Glu482Asp

              7.

              rs1486751400 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                22:43537464 (GRCh38)
                22:43933344 (GRCh37)
                Canonical SPDI:
                NC_000022.11:43537463:T:C
                Gene:
                EFCAB6 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000022.11:g.43537464T>C, NC_000022.10:g.43933344T>C, NG_030019.1:g.279874A>G, NM_022785.4:c.3961A>G, NM_022785.3:c.3961A>G, NM_198856.3:c.3505A>G, NM_198856.2:c.3505A>G, XM_011530318.4:c.3883A>G, XM_011530318.3:c.3883A>G, XM_011530318.2:c.3883A>G, XM_011530318.1:c.3883A>G, XM_011530317.4:c.3961A>G, XM_011530317.3:c.3961A>G, XM_011530317.2:c.3961A>G, XM_011530317.1:c.3961A>G, XM_011530320.4:c.4039A>G, XM_011530320.3:c.4039A>G, XM_011530320.2:c.4039A>G, XM_011530320.1:c.4039A>G, XM_011530319.4:c.3643A>G, XM_011530319.3:c.3643A>G, XM_011530319.2:c.3643A>G, XM_011530319.1:c.3643A>G, XM_011530321.4:c.3505A>G, XM_011530321.3:c.3505A>G, XM_011530321.2:c.3505A>G, XM_011530321.1:c.3505A>G, XM_017028910.3:c.4039A>G, XM_017028910.2:c.4039A>G, XM_017028910.1:c.4039A>G, XM_005261704.3:c.3961A>G, XM_005261704.2:c.3961A>G, XM_005261704.1:c.3961A>G, XM_017028911.3:c.4039A>G, XM_017028911.2:c.4039A>G, XM_017028911.1:c.4039A>G, XM_011530323.3:c.3499A>G, XM_011530323.2:c.3499A>G, XM_011530323.1:c.3499A>G, XM_011530325.3:c.3217A>G, XM_011530325.2:c.3217A>G, XM_011530325.1:c.3217A>G, XM_011530327.3:c.3037A>G, XM_011530327.2:c.3037A>G, XM_011530327.1:c.3037A>G, XM_011530316.2:c.4039A>G, XM_011530316.1:c.4039A>G, XM_047441461.1:c.3505A>G, XR_007067980.1:n.4350A>G, XM_047441462.1:c.3487A>G, XM_047441464.1:c.1855A>G, NP_073622.2:p.Ile1321Val, NP_942153.1:p.Ile1169Val, XP_011528620.1:p.Ile1295Val, XP_011528619.1:p.Ile1321Val, XP_011528622.1:p.Ile1347Val, XP_011528621.1:p.Ile1215Val, XP_011528623.1:p.Ile1169Val, XP_016884399.1:p.Ile1347Val, XP_005261761.1:p.Ile1321Val, XP_016884400.1:p.Ile1347Val, XP_011528625.1:p.Ile1167Val, XP_011528627.1:p.Ile1073Val, XP_011528629.1:p.Ile1013Val, XP_011528618.1:p.Ile1347Val, XP_047297417.1:p.Ile1169Val, XP_047297418.1:p.Ile1163Val, XP_047297420.1:p.Ile619Val

                8.

                rs1486159615 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  22:43772994 (GRCh38)
                  22:44168874 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:43772993:A:G
                  Gene:
                  EFCAB6 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.43772994A>G, NC_000022.10:g.44168874A>G, NG_030019.1:g.44344T>C, NM_022785.4:c.249T>C, NM_022785.3:c.249T>C, XM_011530318.4:c.327T>C, XM_011530318.3:c.327T>C, XM_011530318.2:c.327T>C, XM_011530318.1:c.327T>C, XM_011530317.4:c.249T>C, XM_011530317.3:c.249T>C, XM_011530317.2:c.249T>C, XM_011530317.1:c.249T>C, XM_011530320.4:c.327T>C, XM_011530320.3:c.327T>C, XM_011530320.2:c.327T>C, XM_011530320.1:c.327T>C, XM_011530326.4:c.327T>C, XM_011530326.3:c.327T>C, XM_011530326.2:c.327T>C, XM_011530326.1:c.327T>C, XM_011530328.4:c.327T>C, XM_011530328.3:c.327T>C, XM_011530328.2:c.327T>C, XM_011530328.1:c.327T>C, XM_011530330.4:c.327T>C, XM_011530330.3:c.327T>C, XM_011530330.2:c.327T>C, XM_011530330.1:c.327T>C, XM_017028910.3:c.327T>C, XM_017028910.2:c.327T>C, XM_017028910.1:c.327T>C, XM_005261704.3:c.249T>C, XM_005261704.2:c.249T>C, XM_005261704.1:c.249T>C, XM_017028911.3:c.327T>C, XM_017028911.2:c.327T>C, XM_017028911.1:c.327T>C, XM_011530316.2:c.327T>C, XM_011530316.1:c.327T>C, XR_007067980.1:n.638T>C, XM_047441463.1:c.327T>C, XM_047441465.1:c.327T>C

                  9.

                  rs1484391090 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    22:43528919 (GRCh38)
                    22:43924799 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:43528918:C:G,NC_000022.11:43528918:C:T
                    Gene:
                    EFCAB6 (Varview), EFCAB6-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    C=0.5/2 (SGDP_PRJ)
                    HGVS:
                    NC_000022.11:g.43528919C>G, NC_000022.11:g.43528919C>T, NC_000022.10:g.43924799C>G, NC_000022.10:g.43924799C>T, NG_030019.1:g.288419G>C, NG_030019.1:g.288419G>A, NM_022785.4:c.4440G>C, NM_022785.4:c.4440G>A, NM_022785.3:c.4440G>C, NM_022785.3:c.4440G>A, NM_198856.3:c.3984G>C, NM_198856.3:c.3984G>A, NM_198856.2:c.3984G>C, NM_198856.2:c.3984G>A, XM_011530318.4:c.4620G>C, XM_011530318.4:c.4620G>A, XM_011530318.3:c.4620G>C, XM_011530318.3:c.4620G>A, XM_011530318.2:c.4620G>C, XM_011530318.2:c.4620G>A, XM_011530318.1:c.4620G>C, XM_011530318.1:c.4620G>A, XM_011530317.4:c.4698G>C, XM_011530317.4:c.4698G>A, XM_011530317.3:c.4698G>C, XM_011530317.3:c.4698G>A, XM_011530317.2:c.4698G>C, XM_011530317.2:c.4698G>A, XM_011530317.1:c.4698G>C, XM_011530317.1:c.4698G>A, XM_011530319.4:c.4380G>C, XM_011530319.4:c.4380G>A, XM_011530319.3:c.4380G>C, XM_011530319.3:c.4380G>A, XM_011530319.2:c.4380G>C, XM_011530319.2:c.4380G>A, XM_011530319.1:c.4380G>C, XM_011530319.1:c.4380G>A, XM_011530321.4:c.4242G>C, XM_011530321.4:c.4242G>A, XM_011530321.3:c.4242G>C, XM_011530321.3:c.4242G>A, XM_011530321.2:c.4242G>C, XM_011530321.2:c.4242G>A, XM_011530321.1:c.4242G>C, XM_011530321.1:c.4242G>A, XM_017028910.3:c.4776G>C, XM_017028910.3:c.4776G>A, XM_017028910.2:c.4776G>C, XM_017028910.2:c.4776G>A, XM_017028910.1:c.4776G>C, XM_017028910.1:c.4776G>A, XM_005261704.3:c.4698G>C, XM_005261704.3:c.4698G>A, XM_005261704.2:c.4698G>C, XM_005261704.2:c.4698G>A, XM_005261704.1:c.4698G>C, XM_005261704.1:c.4698G>A, XM_017028911.3:c.4518G>C, XM_017028911.3:c.4518G>A, XM_017028911.2:c.4518G>C, XM_017028911.2:c.4518G>A, XM_017028911.1:c.4518G>C, XM_017028911.1:c.4518G>A, XM_011530323.3:c.4236G>C, XM_011530323.3:c.4236G>A, XM_011530323.2:c.4236G>C, XM_011530323.2:c.4236G>A, XM_011530323.1:c.4236G>C, XM_011530323.1:c.4236G>A, XM_011530325.3:c.3954G>C, XM_011530325.3:c.3954G>A, XM_011530325.2:c.3954G>C, XM_011530325.2:c.3954G>A, XM_011530325.1:c.3954G>C, XM_011530325.1:c.3954G>A, XM_011530327.3:c.3774G>C, XM_011530327.3:c.3774G>A, XM_011530327.2:c.3774G>C, XM_011530327.2:c.3774G>A, XM_011530327.1:c.3774G>C, XM_011530327.1:c.3774G>A, XM_011530316.2:c.4776G>C, XM_011530316.2:c.4776G>A, XM_011530316.1:c.4776G>C, XM_011530316.1:c.4776G>A, XM_047441461.1:c.4242G>C, XM_047441461.1:c.4242G>A, XM_047441462.1:c.4224G>C, XM_047441462.1:c.4224G>A, XM_047441464.1:c.2592G>C, XM_047441464.1:c.2592G>A, NP_073622.2:p.Glu1480Asp, NP_942153.1:p.Glu1328Asp, XP_011528620.1:p.Glu1540Asp, XP_011528619.1:p.Glu1566Asp, XP_011528621.1:p.Glu1460Asp, XP_011528623.1:p.Glu1414Asp, XP_016884399.1:p.Glu1592Asp, XP_005261761.1:p.Glu1566Asp, XP_016884400.1:p.Glu1506Asp, XP_011528625.1:p.Glu1412Asp, XP_011528627.1:p.Glu1318Asp, XP_011528629.1:p.Glu1258Asp, XP_011528618.1:p.Glu1592Asp, XP_047297417.1:p.Glu1414Asp, XP_047297418.1:p.Glu1408Asp, XP_047297420.1:p.Glu864Asp

                    10.

                    rs1483020792 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:43615847 (GRCh38)
                      22:44011727 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:43615846:G:A
                      Gene:
                      EFCAB6 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000022.11:g.43615847G>A, NC_000022.10:g.44011727G>A, NG_030019.1:g.201491C>T, NM_022785.4:c.2541C>T, NM_022785.3:c.2541C>T, NM_198856.3:c.2085C>T, NM_198856.2:c.2085C>T, XM_011530318.4:c.2463C>T, XM_011530318.3:c.2463C>T, XM_011530318.2:c.2463C>T, XM_011530318.1:c.2463C>T, XM_011530317.4:c.2541C>T, XM_011530317.3:c.2541C>T, XM_011530317.2:c.2541C>T, XM_011530317.1:c.2541C>T, XM_011530320.4:c.2619C>T, XM_011530320.3:c.2619C>T, XM_011530320.2:c.2619C>T, XM_011530320.1:c.2619C>T, XM_011530319.4:c.2223C>T, XM_011530319.3:c.2223C>T, XM_011530319.2:c.2223C>T, XM_011530319.1:c.2223C>T, XM_011530321.4:c.2085C>T, XM_011530321.3:c.2085C>T, XM_011530321.2:c.2085C>T, XM_011530321.1:c.2085C>T, XM_011530326.4:c.2619C>T, XM_011530326.3:c.2619C>T, XM_011530326.2:c.2619C>T, XM_011530326.1:c.2619C>T, XM_011530328.4:c.2619C>T, XM_011530328.3:c.2619C>T, XM_011530328.2:c.2619C>T, XM_011530328.1:c.2619C>T, XM_017028910.3:c.2619C>T, XM_017028910.2:c.2619C>T, XM_017028910.1:c.2619C>T, XM_005261704.3:c.2541C>T, XM_005261704.2:c.2541C>T, XM_005261704.1:c.2541C>T, XM_017028911.3:c.2619C>T, XM_017028911.2:c.2619C>T, XM_017028911.1:c.2619C>T, XM_011530323.3:c.2079C>T, XM_011530323.2:c.2079C>T, XM_011530323.1:c.2079C>T, XM_011530325.3:c.1797C>T, XM_011530325.2:c.1797C>T, XM_011530325.1:c.1797C>T, XM_011530327.3:c.1617C>T, XM_011530327.2:c.1617C>T, XM_011530327.1:c.1617C>T, XM_011530316.2:c.2619C>T, XM_011530316.1:c.2619C>T, XM_047441461.1:c.2085C>T, XR_007067980.1:n.2930C>T, XM_047441462.1:c.2067C>T, XM_047441463.1:c.2619C>T, XM_047441464.1:c.435C>T

                      11.

                      rs1482985111 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        22:43782252 (GRCh38)
                        22:44178132 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:43782251:A:C
                        Gene:
                        EFCAB6 (Varview)
                        Functional Consequence:
                        intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000022.11:g.43782252A>C, NC_000022.10:g.44178132A>C, NG_030019.1:g.35086T>G, NM_022785.4:c.67T>G, NM_022785.3:c.67T>G, XM_011530318.4:c.145T>G, XM_011530318.3:c.145T>G, XM_011530318.2:c.145T>G, XM_011530318.1:c.145T>G, XM_011530317.4:c.67T>G, XM_011530317.3:c.67T>G, XM_011530317.2:c.67T>G, XM_011530317.1:c.67T>G, XM_011530320.4:c.145T>G, XM_011530320.3:c.145T>G, XM_011530320.2:c.145T>G, XM_011530320.1:c.145T>G, XM_011530319.4:c.-40T>G, XM_011530319.3:c.-40T>G, XM_011530319.2:c.-40T>G, XM_011530319.1:c.-40T>G, XM_011530326.4:c.145T>G, XM_011530326.3:c.145T>G, XM_011530326.2:c.145T>G, XM_011530326.1:c.145T>G, XM_011530328.4:c.145T>G, XM_011530328.3:c.145T>G, XM_011530328.2:c.145T>G, XM_011530328.1:c.145T>G, XM_011530330.4:c.145T>G, XM_011530330.3:c.145T>G, XM_011530330.2:c.145T>G, XM_011530330.1:c.145T>G, XM_017028910.3:c.145T>G, XM_017028910.2:c.145T>G, XM_017028910.1:c.145T>G, XM_005261704.3:c.67T>G, XM_005261704.2:c.67T>G, XM_005261704.1:c.67T>G, XM_017028911.3:c.145T>G, XM_017028911.2:c.145T>G, XM_017028911.1:c.145T>G, XM_011530316.2:c.145T>G, XM_011530316.1:c.145T>G, XR_007067980.1:n.456T>G, XM_047441462.1:c.-40T>G, XM_047441463.1:c.145T>G, XM_047441465.1:c.145T>G, NP_073622.2:p.Ser23Ala, XP_011528620.1:p.Ser49Ala, XP_011528619.1:p.Ser23Ala, XP_011528622.1:p.Ser49Ala, XP_011528628.1:p.Ser49Ala, XP_011528630.1:p.Ser49Ala, XP_011528632.1:p.Ser49Ala, XP_016884399.1:p.Ser49Ala, XP_005261761.1:p.Ser23Ala, XP_016884400.1:p.Ser49Ala, XP_011528618.1:p.Ser49Ala, XP_047297419.1:p.Ser49Ala, XP_047297421.1:p.Ser49Ala

                        12.

                        rs1482074702 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:43773080 (GRCh38)
                          22:44168960 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:43773079:G:A
                          Gene:
                          EFCAB6 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000094/1 (ALFA)
                          A=0.000008/2 (GnomAD_exomes)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000022.11:g.43773080G>A, NC_000022.10:g.44168960G>A, NG_030019.1:g.44258C>T, NM_022785.4:c.163C>T, NM_022785.3:c.163C>T, XM_011530318.4:c.241C>T, XM_011530318.3:c.241C>T, XM_011530318.2:c.241C>T, XM_011530318.1:c.241C>T, XM_011530317.4:c.163C>T, XM_011530317.3:c.163C>T, XM_011530317.2:c.163C>T, XM_011530317.1:c.163C>T, XM_011530320.4:c.241C>T, XM_011530320.3:c.241C>T, XM_011530320.2:c.241C>T, XM_011530320.1:c.241C>T, XM_011530326.4:c.241C>T, XM_011530326.3:c.241C>T, XM_011530326.2:c.241C>T, XM_011530326.1:c.241C>T, XM_011530328.4:c.241C>T, XM_011530328.3:c.241C>T, XM_011530328.2:c.241C>T, XM_011530328.1:c.241C>T, XM_011530330.4:c.241C>T, XM_011530330.3:c.241C>T, XM_011530330.2:c.241C>T, XM_011530330.1:c.241C>T, XM_017028910.3:c.241C>T, XM_017028910.2:c.241C>T, XM_017028910.1:c.241C>T, XM_005261704.3:c.163C>T, XM_005261704.2:c.163C>T, XM_005261704.1:c.163C>T, XM_017028911.3:c.241C>T, XM_017028911.2:c.241C>T, XM_017028911.1:c.241C>T, XM_011530316.2:c.241C>T, XM_011530316.1:c.241C>T, XR_007067980.1:n.552C>T, XM_047441463.1:c.241C>T, XM_047441465.1:c.241C>T

                          13.

                          rs1481351307 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            22:43731741 (GRCh38)
                            22:44127621 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:43731740:T:
                            Gene:
                            EFCAB6 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
                            Validated:
                            by frequency
                            MAF:
                            -=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000022.11:g.43731741del, NC_000022.10:g.44127621del, NG_030019.1:g.85597del, NM_022785.4:c.715del, NM_022785.3:c.715del, NM_198856.3:c.259del, NM_198856.2:c.259del, XM_011530318.4:c.637del, XM_011530318.3:c.637del, XM_011530318.2:c.637del, XM_011530318.1:c.637del, XM_011530317.4:c.715del, XM_011530317.3:c.715del, XM_011530317.2:c.715del, XM_011530317.1:c.715del, XM_011530320.4:c.793del, XM_011530320.3:c.793del, XM_011530320.2:c.793del, XM_011530320.1:c.793del, XM_011530319.4:c.397del, XM_011530319.3:c.397del, XM_011530319.2:c.397del, XM_011530319.1:c.397del, XM_011530321.4:c.259del, XM_011530321.3:c.259del, XM_011530321.2:c.259del, XM_011530321.1:c.259del, XM_011530326.4:c.793del, XM_011530326.3:c.793del, XM_011530326.2:c.793del, XM_011530326.1:c.793del, XM_011530328.4:c.793del, XM_011530328.3:c.793del, XM_011530328.2:c.793del, XM_011530328.1:c.793del, XM_011530330.4:c.793del, XM_011530330.3:c.793del, XM_011530330.2:c.793del, XM_011530330.1:c.793del, XM_017028910.3:c.793del, XM_017028910.2:c.793del, XM_017028910.1:c.793del, XM_005261704.3:c.715del, XM_005261704.2:c.715del, XM_005261704.1:c.715del, XM_017028911.3:c.793del, XM_017028911.2:c.793del, XM_017028911.1:c.793del, XM_011530323.3:c.253del, XM_011530323.2:c.253del, XM_011530323.1:c.253del, XM_011530325.3:c.-30del, XM_011530325.2:c.-30del, XM_011530325.1:c.-30del, XM_011530316.2:c.793del, XM_011530316.1:c.793del, XM_047441461.1:c.259del, XR_007067980.1:n.1104del, XM_047441462.1:c.241del, XM_047441463.1:c.793del, XM_047441465.1:c.793del, NP_073622.2:p.Ser238_Ile239insTer, NP_942153.1:p.Ser86_Ile87insTer, XP_011528620.1:p.Ser212_Ile213insTer, XP_011528619.1:p.Ser238_Ile239insTer, XP_011528622.1:p.Ser264_Ile265insTer, XP_011528621.1:p.Ser132_Ile133insTer, XP_011528623.1:p.Ser86_Ile87insTer, XP_011528628.1:p.Ser264_Ile265insTer, XP_011528630.1:p.Ser264_Ile265insTer, XP_011528632.1:p.Ser264_Ile265insTer, XP_016884399.1:p.Ser264_Ile265insTer, XP_005261761.1:p.Ser238_Ile239insTer, XP_016884400.1:p.Ser264_Ile265insTer, XP_011528625.1:p.Ser84_Ile85insTer, XP_011528618.1:p.Ser264_Ile265insTer, XP_047297417.1:p.Ser86_Ile87insTer, XP_047297418.1:p.Ser80_Ile81insTer, XP_047297419.1:p.Ser264_Ile265insTer, XP_047297421.1:p.Ser264_Ile265insTer

                            14.

                            rs1480958677 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              22:43580584 (GRCh38)
                              22:43976464 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:43580583:T:C,NC_000022.11:43580583:T:G
                              Gene:
                              EFCAB6 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000022.11:g.43580584T>C, NC_000022.11:g.43580584T>G, NC_000022.10:g.43976464T>C, NC_000022.10:g.43976464T>G, NG_030019.1:g.236754A>G, NG_030019.1:g.236754A>C, NM_022785.4:c.3108A>G, NM_022785.4:c.3108A>C, NM_022785.3:c.3108A>G, NM_022785.3:c.3108A>C, NM_198856.3:c.2652A>G, NM_198856.3:c.2652A>C, NM_198856.2:c.2652A>G, NM_198856.2:c.2652A>C, XM_011530318.4:c.3030A>G, XM_011530318.4:c.3030A>C, XM_011530318.3:c.3030A>G, XM_011530318.3:c.3030A>C, XM_011530318.2:c.3030A>G, XM_011530318.2:c.3030A>C, XM_011530318.1:c.3030A>G, XM_011530318.1:c.3030A>C, XM_011530317.4:c.3108A>G, XM_011530317.4:c.3108A>C, XM_011530317.3:c.3108A>G, XM_011530317.3:c.3108A>C, XM_011530317.2:c.3108A>G, XM_011530317.2:c.3108A>C, XM_011530317.1:c.3108A>G, XM_011530317.1:c.3108A>C, XM_011530320.4:c.3186A>G, XM_011530320.4:c.3186A>C, XM_011530320.3:c.3186A>G, XM_011530320.3:c.3186A>C, XM_011530320.2:c.3186A>G, XM_011530320.2:c.3186A>C, XM_011530320.1:c.3186A>G, XM_011530320.1:c.3186A>C, XM_011530319.4:c.2790A>G, XM_011530319.4:c.2790A>C, XM_011530319.3:c.2790A>G, XM_011530319.3:c.2790A>C, XM_011530319.2:c.2790A>G, XM_011530319.2:c.2790A>C, XM_011530319.1:c.2790A>G, XM_011530319.1:c.2790A>C, XM_011530321.4:c.2652A>G, XM_011530321.4:c.2652A>C, XM_011530321.3:c.2652A>G, XM_011530321.3:c.2652A>C, XM_011530321.2:c.2652A>G, XM_011530321.2:c.2652A>C, XM_011530321.1:c.2652A>G, XM_011530321.1:c.2652A>C, XM_011530326.4:c.3186A>G, XM_011530326.4:c.3186A>C, XM_011530326.3:c.3186A>G, XM_011530326.3:c.3186A>C, XM_011530326.2:c.3186A>G, XM_011530326.2:c.3186A>C, XM_011530326.1:c.3186A>G, XM_011530326.1:c.3186A>C, XM_017028910.3:c.3186A>G, XM_017028910.3:c.3186A>C, XM_017028910.2:c.3186A>G, XM_017028910.2:c.3186A>C, XM_017028910.1:c.3186A>G, XM_017028910.1:c.3186A>C, XM_005261704.3:c.3108A>G, XM_005261704.3:c.3108A>C, XM_005261704.2:c.3108A>G, XM_005261704.2:c.3108A>C, XM_005261704.1:c.3108A>G, XM_005261704.1:c.3108A>C, XM_017028911.3:c.3186A>G, XM_017028911.3:c.3186A>C, XM_017028911.2:c.3186A>G, XM_017028911.2:c.3186A>C, XM_017028911.1:c.3186A>G, XM_017028911.1:c.3186A>C, XM_011530323.3:c.2646A>G, XM_011530323.3:c.2646A>C, XM_011530323.2:c.2646A>G, XM_011530323.2:c.2646A>C, XM_011530323.1:c.2646A>G, XM_011530323.1:c.2646A>C, XM_011530325.3:c.2364A>G, XM_011530325.3:c.2364A>C, XM_011530325.2:c.2364A>G, XM_011530325.2:c.2364A>C, XM_011530325.1:c.2364A>G, XM_011530325.1:c.2364A>C, XM_011530327.3:c.2184A>G, XM_011530327.3:c.2184A>C, XM_011530327.2:c.2184A>G, XM_011530327.2:c.2184A>C, XM_011530327.1:c.2184A>G, XM_011530327.1:c.2184A>C, XM_011530316.2:c.3186A>G, XM_011530316.2:c.3186A>C, XM_011530316.1:c.3186A>G, XM_011530316.1:c.3186A>C, XM_047441461.1:c.2652A>G, XM_047441461.1:c.2652A>C, XR_007067980.1:n.3497A>G, XR_007067980.1:n.3497A>C, XM_047441462.1:c.2634A>G, XM_047441462.1:c.2634A>C, XM_047441464.1:c.1002A>G, XM_047441464.1:c.1002A>C

                              15.

                              rs1478009532 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                22:43678019 (GRCh38)
                                22:44073899 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:43678018:C:G
                                Gene:
                                EFCAB6 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000022.11:g.43678019C>G, NC_000022.10:g.44073899C>G, NG_030019.1:g.139319G>C, NM_022785.4:c.1396G>C, NM_022785.3:c.1396G>C, NM_198856.3:c.940G>C, NM_198856.2:c.940G>C, XM_011530318.4:c.1318G>C, XM_011530318.3:c.1318G>C, XM_011530318.2:c.1318G>C, XM_011530318.1:c.1318G>C, XM_011530317.4:c.1396G>C, XM_011530317.3:c.1396G>C, XM_011530317.2:c.1396G>C, XM_011530317.1:c.1396G>C, XM_011530320.4:c.1474G>C, XM_011530320.3:c.1474G>C, XM_011530320.2:c.1474G>C, XM_011530320.1:c.1474G>C, XM_011530319.4:c.1078G>C, XM_011530319.3:c.1078G>C, XM_011530319.2:c.1078G>C, XM_011530319.1:c.1078G>C, XM_011530321.4:c.940G>C, XM_011530321.3:c.940G>C, XM_011530321.2:c.940G>C, XM_011530321.1:c.940G>C, XM_011530326.4:c.1474G>C, XM_011530326.3:c.1474G>C, XM_011530326.2:c.1474G>C, XM_011530326.1:c.1474G>C, XM_011530328.4:c.1474G>C, XM_011530328.3:c.1474G>C, XM_011530328.2:c.1474G>C, XM_011530328.1:c.1474G>C, XM_011530330.4:c.1474G>C, XM_011530330.3:c.1474G>C, XM_011530330.2:c.1474G>C, XM_011530330.1:c.1474G>C, XM_017028910.3:c.1474G>C, XM_017028910.2:c.1474G>C, XM_017028910.1:c.1474G>C, XM_005261704.3:c.1396G>C, XM_005261704.2:c.1396G>C, XM_005261704.1:c.1396G>C, XM_017028911.3:c.1474G>C, XM_017028911.2:c.1474G>C, XM_017028911.1:c.1474G>C, XM_011530323.3:c.934G>C, XM_011530323.2:c.934G>C, XM_011530323.1:c.934G>C, XM_011530325.3:c.652G>C, XM_011530325.2:c.652G>C, XM_011530325.1:c.652G>C, XM_011530327.3:c.472G>C, XM_011530327.2:c.472G>C, XM_011530327.1:c.472G>C, XM_011530316.2:c.1474G>C, XM_011530316.1:c.1474G>C, XM_047441461.1:c.940G>C, XR_007067980.1:n.1785G>C, XM_047441462.1:c.922G>C, XM_047441463.1:c.1474G>C, XM_047441465.1:c.1474G>C, NP_073622.2:p.Asp466His, NP_942153.1:p.Asp314His, XP_011528620.1:p.Asp440His, XP_011528619.1:p.Asp466His, XP_011528622.1:p.Asp492His, XP_011528621.1:p.Asp360His, XP_011528623.1:p.Asp314His, XP_011528628.1:p.Asp492His, XP_011528630.1:p.Asp492His, XP_011528632.1:p.Asp492His, XP_016884399.1:p.Asp492His, XP_005261761.1:p.Asp466His, XP_016884400.1:p.Asp492His, XP_011528625.1:p.Asp312His, XP_011528627.1:p.Asp218His, XP_011528629.1:p.Asp158His, XP_011528618.1:p.Asp492His, XP_047297417.1:p.Asp314His, XP_047297418.1:p.Asp308His, XP_047297419.1:p.Asp492His, XP_047297421.1:p.Asp492His

                                16.

                                rs1477592870 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  22:43600096 (GRCh38)
                                  22:43995976 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:43600095:T:C
                                  Gene:
                                  EFCAB6 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.43600096T>C, NC_000022.10:g.43995976T>C, NG_030019.1:g.217242A>G, NM_022785.4:c.2849A>G, NM_022785.3:c.2849A>G, NM_198856.3:c.2393A>G, NM_198856.2:c.2393A>G, XM_011530318.4:c.2771A>G, XM_011530318.3:c.2771A>G, XM_011530318.2:c.2771A>G, XM_011530318.1:c.2771A>G, XM_011530317.4:c.2849A>G, XM_011530317.3:c.2849A>G, XM_011530317.2:c.2849A>G, XM_011530317.1:c.2849A>G, XM_011530320.4:c.2927A>G, XM_011530320.3:c.2927A>G, XM_011530320.2:c.2927A>G, XM_011530320.1:c.2927A>G, XM_011530319.4:c.2531A>G, XM_011530319.3:c.2531A>G, XM_011530319.2:c.2531A>G, XM_011530319.1:c.2531A>G, XM_011530321.4:c.2393A>G, XM_011530321.3:c.2393A>G, XM_011530321.2:c.2393A>G, XM_011530321.1:c.2393A>G, XM_011530326.4:c.2927A>G, XM_011530326.3:c.2927A>G, XM_011530326.2:c.2927A>G, XM_011530326.1:c.2927A>G, XM_011530328.4:c.2927A>G, XM_011530328.3:c.2927A>G, XM_011530328.2:c.2927A>G, XM_011530328.1:c.2927A>G, XM_017028910.3:c.2927A>G, XM_017028910.2:c.2927A>G, XM_017028910.1:c.2927A>G, XM_005261704.3:c.2849A>G, XM_005261704.2:c.2849A>G, XM_005261704.1:c.2849A>G, XM_017028911.3:c.2927A>G, XM_017028911.2:c.2927A>G, XM_017028911.1:c.2927A>G, XM_011530323.3:c.2387A>G, XM_011530323.2:c.2387A>G, XM_011530323.1:c.2387A>G, XM_011530325.3:c.2105A>G, XM_011530325.2:c.2105A>G, XM_011530325.1:c.2105A>G, XM_011530327.3:c.1925A>G, XM_011530327.2:c.1925A>G, XM_011530327.1:c.1925A>G, XM_011530316.2:c.2927A>G, XM_011530316.1:c.2927A>G, XM_047441461.1:c.2393A>G, XR_007067980.1:n.3238A>G, XM_047441462.1:c.2375A>G, XM_047441464.1:c.743A>G, NP_073622.2:p.Gln950Arg, NP_942153.1:p.Gln798Arg, XP_011528620.1:p.Gln924Arg, XP_011528619.1:p.Gln950Arg, XP_011528622.1:p.Gln976Arg, XP_011528621.1:p.Gln844Arg, XP_011528623.1:p.Gln798Arg, XP_011528628.1:p.Gln976Arg, XP_011528630.1:p.Gln976Arg, XP_016884399.1:p.Gln976Arg, XP_005261761.1:p.Gln950Arg, XP_016884400.1:p.Gln976Arg, XP_011528625.1:p.Gln796Arg, XP_011528627.1:p.Gln702Arg, XP_011528629.1:p.Gln642Arg, XP_011528618.1:p.Gln976Arg, XP_047297417.1:p.Gln798Arg, XP_047297418.1:p.Gln792Arg, XP_047297420.1:p.Gln248Arg

                                  17.

                                  rs1477465082 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    22:43672010 (GRCh38)
                                    22:44067890 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:43672009:C:
                                    Gene:
                                    EFCAB6 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000022.11:g.43672010del, NC_000022.10:g.44067890del, NG_030019.1:g.145328del, NM_022785.4:c.1603del, NM_022785.3:c.1603del, NM_198856.3:c.1147del, NM_198856.2:c.1147del, XM_011530318.4:c.1525del, XM_011530318.3:c.1525del, XM_011530318.2:c.1525del, XM_011530318.1:c.1525del, XM_011530317.4:c.1603del, XM_011530317.3:c.1603del, XM_011530317.2:c.1603del, XM_011530317.1:c.1603del, XM_011530320.4:c.1681del, XM_011530320.3:c.1681del, XM_011530320.2:c.1681del, XM_011530320.1:c.1681del, XM_011530319.4:c.1285del, XM_011530319.3:c.1285del, XM_011530319.2:c.1285del, XM_011530319.1:c.1285del, XM_011530321.4:c.1147del, XM_011530321.3:c.1147del, XM_011530321.2:c.1147del, XM_011530321.1:c.1147del, XM_011530326.4:c.1681del, XM_011530326.3:c.1681del, XM_011530326.2:c.1681del, XM_011530326.1:c.1681del, XM_011530328.4:c.1681del, XM_011530328.3:c.1681del, XM_011530328.2:c.1681del, XM_011530328.1:c.1681del, XM_011530330.4:c.1681del, XM_011530330.3:c.1681del, XM_011530330.2:c.1681del, XM_011530330.1:c.1681del, XM_017028910.3:c.1681del, XM_017028910.2:c.1681del, XM_017028910.1:c.1681del, XM_005261704.3:c.1603del, XM_005261704.2:c.1603del, XM_005261704.1:c.1603del, XM_017028911.3:c.1681del, XM_017028911.2:c.1681del, XM_017028911.1:c.1681del, XM_011530323.3:c.1141del, XM_011530323.2:c.1141del, XM_011530323.1:c.1141del, XM_011530325.3:c.859del, XM_011530325.2:c.859del, XM_011530325.1:c.859del, XM_011530327.3:c.679del, XM_011530327.2:c.679del, XM_011530327.1:c.679del, XM_011530316.2:c.1681del, XM_011530316.1:c.1681del, XM_047441461.1:c.1147del, XR_007067980.1:n.1992del, XM_047441462.1:c.1129del, XM_047441463.1:c.1681del, XM_047441465.1:c.1681del, NP_073622.2:p.Val535fs, NP_942153.1:p.Val383fs, XP_011528620.1:p.Val509fs, XP_011528619.1:p.Val535fs, XP_011528622.1:p.Val561fs, XP_011528621.1:p.Val429fs, XP_011528623.1:p.Val383fs, XP_011528628.1:p.Val561fs, XP_011528630.1:p.Val561fs, XP_011528632.1:p.Val561fs, XP_016884399.1:p.Val561fs, XP_005261761.1:p.Val535fs, XP_016884400.1:p.Val561fs, XP_011528625.1:p.Val381fs, XP_011528627.1:p.Val287fs, XP_011528629.1:p.Val227fs, XP_011528618.1:p.Val561fs, XP_047297417.1:p.Val383fs, XP_047297418.1:p.Val377fs, XP_047297419.1:p.Val561fs, XP_047297421.1:p.Val561fs

                                    18.

                                    rs1477372241 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      22:43668960 (GRCh38)
                                      22:44064840 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:43668959:T:C
                                      Gene:
                                      EFCAB6 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000022.11:g.43668960T>C, NC_000022.10:g.44064840T>C, NG_030019.1:g.148378A>G, NM_022785.4:c.1726A>G, NM_022785.3:c.1726A>G, NM_198856.3:c.1270A>G, NM_198856.2:c.1270A>G, XM_011530318.4:c.1648A>G, XM_011530318.3:c.1648A>G, XM_011530318.2:c.1648A>G, XM_011530318.1:c.1648A>G, XM_011530317.4:c.1726A>G, XM_011530317.3:c.1726A>G, XM_011530317.2:c.1726A>G, XM_011530317.1:c.1726A>G, XM_011530320.4:c.1804A>G, XM_011530320.3:c.1804A>G, XM_011530320.2:c.1804A>G, XM_011530320.1:c.1804A>G, XM_011530319.4:c.1408A>G, XM_011530319.3:c.1408A>G, XM_011530319.2:c.1408A>G, XM_011530319.1:c.1408A>G, XM_011530321.4:c.1270A>G, XM_011530321.3:c.1270A>G, XM_011530321.2:c.1270A>G, XM_011530321.1:c.1270A>G, XM_011530326.4:c.1804A>G, XM_011530326.3:c.1804A>G, XM_011530326.2:c.1804A>G, XM_011530326.1:c.1804A>G, XM_011530328.4:c.1804A>G, XM_011530328.3:c.1804A>G, XM_011530328.2:c.1804A>G, XM_011530328.1:c.1804A>G, XM_011530330.4:c.1804A>G, XM_011530330.3:c.1804A>G, XM_011530330.2:c.1804A>G, XM_011530330.1:c.1804A>G, XM_017028910.3:c.1804A>G, XM_017028910.2:c.1804A>G, XM_017028910.1:c.1804A>G, XM_005261704.3:c.1726A>G, XM_005261704.2:c.1726A>G, XM_005261704.1:c.1726A>G, XM_017028911.3:c.1804A>G, XM_017028911.2:c.1804A>G, XM_017028911.1:c.1804A>G, XM_011530323.3:c.1264A>G, XM_011530323.2:c.1264A>G, XM_011530323.1:c.1264A>G, XM_011530325.3:c.982A>G, XM_011530325.2:c.982A>G, XM_011530325.1:c.982A>G, XM_011530327.3:c.802A>G, XM_011530327.2:c.802A>G, XM_011530327.1:c.802A>G, XM_011530316.2:c.1804A>G, XM_011530316.1:c.1804A>G, XM_047441461.1:c.1270A>G, XR_007067980.1:n.2115A>G, XM_047441462.1:c.1252A>G, XM_047441463.1:c.1804A>G, XM_047441465.1:c.1804A>G, NP_073622.2:p.Thr576Ala, NP_942153.1:p.Thr424Ala, XP_011528620.1:p.Thr550Ala, XP_011528619.1:p.Thr576Ala, XP_011528622.1:p.Thr602Ala, XP_011528621.1:p.Thr470Ala, XP_011528623.1:p.Thr424Ala, XP_011528628.1:p.Thr602Ala, XP_011528630.1:p.Thr602Ala, XP_011528632.1:p.Thr602Ala, XP_016884399.1:p.Thr602Ala, XP_005261761.1:p.Thr576Ala, XP_016884400.1:p.Thr602Ala, XP_011528625.1:p.Thr422Ala, XP_011528627.1:p.Thr328Ala, XP_011528629.1:p.Thr268Ala, XP_011528618.1:p.Thr602Ala, XP_047297417.1:p.Thr424Ala, XP_047297418.1:p.Thr418Ala, XP_047297419.1:p.Thr602Ala, XP_047297421.1:p.Thr602Ala

                                      19.

                                      rs1477155589 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        22:43555023 (GRCh38)
                                        22:43950903 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:43555022:T:A
                                        Gene:
                                        EFCAB6 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000022.11:g.43555023T>A, NC_000022.10:g.43950903T>A, NG_030019.1:g.262315A>T, NM_022785.4:c.3494A>T, NM_022785.3:c.3494A>T, NM_198856.3:c.3038A>T, NM_198856.2:c.3038A>T, XM_011530318.4:c.3416A>T, XM_011530318.3:c.3416A>T, XM_011530318.2:c.3416A>T, XM_011530318.1:c.3416A>T, XM_011530317.4:c.3494A>T, XM_011530317.3:c.3494A>T, XM_011530317.2:c.3494A>T, XM_011530317.1:c.3494A>T, XM_011530320.4:c.3572A>T, XM_011530320.3:c.3572A>T, XM_011530320.2:c.3572A>T, XM_011530320.1:c.3572A>T, XM_011530319.4:c.3176A>T, XM_011530319.3:c.3176A>T, XM_011530319.2:c.3176A>T, XM_011530319.1:c.3176A>T, XM_011530321.4:c.3038A>T, XM_011530321.3:c.3038A>T, XM_011530321.2:c.3038A>T, XM_011530321.1:c.3038A>T, XM_011530326.4:c.3572A>T, XM_011530326.3:c.3572A>T, XM_011530326.2:c.3572A>T, XM_011530326.1:c.3572A>T, XM_017028910.3:c.3572A>T, XM_017028910.2:c.3572A>T, XM_017028910.1:c.3572A>T, XM_005261704.3:c.3494A>T, XM_005261704.2:c.3494A>T, XM_005261704.1:c.3494A>T, XM_017028911.3:c.3572A>T, XM_017028911.2:c.3572A>T, XM_017028911.1:c.3572A>T, XM_011530323.3:c.3032A>T, XM_011530323.2:c.3032A>T, XM_011530323.1:c.3032A>T, XM_011530325.3:c.2750A>T, XM_011530325.2:c.2750A>T, XM_011530325.1:c.2750A>T, XM_011530327.3:c.2570A>T, XM_011530327.2:c.2570A>T, XM_011530327.1:c.2570A>T, XM_011530316.2:c.3572A>T, XM_011530316.1:c.3572A>T, XM_047441461.1:c.3038A>T, XR_007067980.1:n.3883A>T, XM_047441462.1:c.3020A>T, XM_047441464.1:c.1388A>T, NP_073622.2:p.Asp1165Val, NP_942153.1:p.Asp1013Val, XP_011528620.1:p.Asp1139Val, XP_011528619.1:p.Asp1165Val, XP_011528622.1:p.Asp1191Val, XP_011528621.1:p.Asp1059Val, XP_011528623.1:p.Asp1013Val, XP_011528628.1:p.Asp1191Val, XP_016884399.1:p.Asp1191Val, XP_005261761.1:p.Asp1165Val, XP_016884400.1:p.Asp1191Val, XP_011528625.1:p.Asp1011Val, XP_011528627.1:p.Asp917Val, XP_011528629.1:p.Asp857Val, XP_011528618.1:p.Asp1191Val, XP_047297417.1:p.Asp1013Val, XP_047297418.1:p.Asp1007Val, XP_047297420.1:p.Asp463Val

                                        20.

                                        rs1476170948 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:43540251 (GRCh38)
                                          22:43936131 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:43540250:G:A
                                          Gene:
                                          EFCAB6 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (GnomAD_exomes)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000022.11:g.43540251G>A, NC_000022.10:g.43936131G>A, NG_030019.1:g.277087C>T, NM_022785.4:c.3755C>T, NM_022785.3:c.3755C>T, NM_198856.3:c.3299C>T, NM_198856.2:c.3299C>T, XM_011530318.4:c.3677C>T, XM_011530318.3:c.3677C>T, XM_011530318.2:c.3677C>T, XM_011530318.1:c.3677C>T, XM_011530317.4:c.3755C>T, XM_011530317.3:c.3755C>T, XM_011530317.2:c.3755C>T, XM_011530317.1:c.3755C>T, XM_011530320.4:c.3833C>T, XM_011530320.3:c.3833C>T, XM_011530320.2:c.3833C>T, XM_011530320.1:c.3833C>T, XM_011530319.4:c.3437C>T, XM_011530319.3:c.3437C>T, XM_011530319.2:c.3437C>T, XM_011530319.1:c.3437C>T, XM_011530321.4:c.3299C>T, XM_011530321.3:c.3299C>T, XM_011530321.2:c.3299C>T, XM_011530321.1:c.3299C>T, XM_017028910.3:c.3833C>T, XM_017028910.2:c.3833C>T, XM_017028910.1:c.3833C>T, XM_005261704.3:c.3755C>T, XM_005261704.2:c.3755C>T, XM_005261704.1:c.3755C>T, XM_017028911.3:c.3833C>T, XM_017028911.2:c.3833C>T, XM_017028911.1:c.3833C>T, XM_011530323.3:c.3293C>T, XM_011530323.2:c.3293C>T, XM_011530323.1:c.3293C>T, XM_011530325.3:c.3011C>T, XM_011530325.2:c.3011C>T, XM_011530325.1:c.3011C>T, XM_011530327.3:c.2831C>T, XM_011530327.2:c.2831C>T, XM_011530327.1:c.2831C>T, XM_011530316.2:c.3833C>T, XM_011530316.1:c.3833C>T, XM_047441461.1:c.3299C>T, XR_007067980.1:n.4144C>T, XM_047441462.1:c.3281C>T, XM_047441464.1:c.1649C>T, NP_073622.2:p.Thr1252Ile, NP_942153.1:p.Thr1100Ile, XP_011528620.1:p.Thr1226Ile, XP_011528619.1:p.Thr1252Ile, XP_011528622.1:p.Thr1278Ile, XP_011528621.1:p.Thr1146Ile, XP_011528623.1:p.Thr1100Ile, XP_016884399.1:p.Thr1278Ile, XP_005261761.1:p.Thr1252Ile, XP_016884400.1:p.Thr1278Ile, XP_011528625.1:p.Thr1098Ile, XP_011528627.1:p.Thr1004Ile, XP_011528629.1:p.Thr944Ile, XP_011528618.1:p.Thr1278Ile, XP_047297417.1:p.Thr1100Ile, XP_047297418.1:p.Thr1094Ile, XP_047297420.1:p.Thr550Ile

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