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Items: 1 to 20 of 2192

1.

rs1490795632 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:24167124 (GRCh38)
    22:24563092 (GRCh37)
    Canonical SPDI:
    NC_000022.11:24167123:G:A
    Gene:
    CABIN1 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000022.11:g.24167124G>A, NC_000022.10:g.24563092G>A, NG_047136.1:g.160933G>A, NM_012295.4:c.5493G>A, NM_012295.3:c.5493G>A, NM_001201429.2:c.5343G>A, NM_001201429.1:c.5343G>A, NM_001199281.1:c.5493G>A, XM_005261415.4:c.5583G>A, XM_005261415.3:c.5583G>A, XM_005261415.2:c.5583G>A, XM_005261415.1:c.5583G>A, XM_005261416.4:c.5583G>A, XM_005261416.3:c.5583G>A, XM_005261416.2:c.5583G>A, XM_005261416.1:c.5583G>A, XM_005261417.4:c.5493G>A, XM_005261417.3:c.5493G>A, XM_005261417.2:c.5493G>A, XM_005261417.1:c.5493G>A, XM_006724179.3:c.5583G>A, XM_006724179.2:c.5583G>A, XM_006724179.1:c.5583G>A, XM_017028680.3:c.5583G>A, XM_017028680.2:c.5583G>A, XM_017028680.1:c.5583G>A, XM_017028681.3:c.5433G>A, XM_017028681.2:c.5433G>A, XM_017028681.1:c.5433G>A, XM_006724180.3:c.5406G>A, XM_006724180.2:c.5406G>A, XM_006724180.1:c.5406G>A, XM_006724181.3:c.5493G>A, XM_006724181.2:c.5493G>A, XM_006724181.1:c.5493G>A, XM_011530026.3:c.5388G>A, XM_011530026.2:c.5388G>A, XM_011530026.1:c.5388G>A, XM_017028683.3:c.5256G>A, XM_017028683.2:c.5256G>A, XM_017028683.1:c.5256G>A, XM_005261419.3:c.5448G>A, XM_005261419.2:c.5448G>A, XM_005261419.1:c.5448G>A, XM_024452186.2:c.5448G>A, XM_024452186.1:c.5448G>A, XM_024452187.2:c.5343G>A, XM_024452187.1:c.5343G>A, XM_024452184.2:c.5583G>A, XM_024452184.1:c.5583G>A, XM_047441223.1:c.5406G>A, XM_047441228.1:c.5358G>A, XM_047441218.1:c.5493G>A, XM_047441233.1:c.5343G>A, XM_047441230.1:c.5358G>A, XM_047441219.1:c.5493G>A, XM_047441235.1:c.5433G>A, XM_047441237.1:c.5298G>A, XM_047441239.1:c.5298G>A, XM_047441242.1:c.5358G>A, XM_047441241.1:c.5271G>A, XM_047441226.1:c.5493G>A, XM_047441245.1:c.5343G>A, XM_047441232.1:c.5358G>A, XM_047441217.1:c.5493G>A, XM_047441247.1:c.5163G>A, XM_047441220.1:c.5433G>A, XM_047441222.1:c.5406G>A, XM_047441221.1:c.5493G>A, XM_047441225.1:c.5406G>A, XM_047441224.1:c.5493G>A, XM_047441227.1:c.5388G>A, XM_047441229.1:c.5358G>A, XM_047441234.1:c.5343G>A, XM_047441231.1:c.5358G>A, XM_047441236.1:c.5406G>A, XM_047441238.1:c.5298G>A, XM_047441240.1:c.5298G>A, XM_047441244.1:c.5358G>A, XM_047441243.1:c.5271G>A, XM_047441246.1:c.5208G>A

    2.

    rs1490490749 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      22:24059335 (GRCh38)
      22:24455798 (GRCh37)
      Canonical SPDI:
      NC_000022.11:24059334:A:G
      Gene:
      CABIN1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      G=0.000024/6 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.24059335A>G, NC_000022.10:g.24455798A>G, NG_047136.1:g.53144A>G, NM_012295.4:c.1371A>G, NM_012295.3:c.1371A>G, NM_001201429.2:c.1221A>G, NM_001201429.1:c.1221A>G, NM_001199281.1:c.1371A>G, XM_005261415.4:c.1371A>G, XM_005261415.3:c.1371A>G, XM_005261415.2:c.1371A>G, XM_005261415.1:c.1371A>G, XM_005261416.4:c.1371A>G, XM_005261416.3:c.1371A>G, XM_005261416.2:c.1371A>G, XM_005261416.1:c.1371A>G, XM_005261417.4:c.1371A>G, XM_005261417.3:c.1371A>G, XM_005261417.2:c.1371A>G, XM_005261417.1:c.1371A>G, XM_006724179.3:c.1371A>G, XM_006724179.2:c.1371A>G, XM_006724179.1:c.1371A>G, XM_017028680.3:c.1371A>G, XM_017028680.2:c.1371A>G, XM_017028680.1:c.1371A>G, XM_017028681.3:c.1221A>G, XM_017028681.2:c.1221A>G, XM_017028681.1:c.1221A>G, XM_006724180.3:c.1371A>G, XM_006724180.2:c.1371A>G, XM_006724180.1:c.1371A>G, XM_006724181.3:c.1371A>G, XM_006724181.2:c.1371A>G, XM_006724181.1:c.1371A>G, XM_011530026.3:c.1371A>G, XM_011530026.2:c.1371A>G, XM_011530026.1:c.1371A>G, XM_017028683.3:c.1221A>G, XM_017028683.2:c.1221A>G, XM_017028683.1:c.1221A>G, XM_005261419.3:c.1236A>G, XM_005261419.2:c.1236A>G, XM_005261419.1:c.1236A>G, XM_024452186.2:c.1236A>G, XM_024452186.1:c.1236A>G, XM_024452187.2:c.1221A>G, XM_024452187.1:c.1221A>G, XM_024452184.2:c.1371A>G, XM_024452184.1:c.1371A>G, XM_047441223.1:c.1371A>G, XM_047441228.1:c.1236A>G, XM_047441218.1:c.1371A>G, XM_047441233.1:c.1221A>G, XM_047441230.1:c.1236A>G, XM_047441219.1:c.1371A>G, XM_047441235.1:c.1221A>G, XM_047441237.1:c.1371A>G, XM_047441239.1:c.1371A>G, XM_047441242.1:c.1236A>G, XM_047441241.1:c.1236A>G, XM_047441226.1:c.1371A>G, XM_047441245.1:c.1221A>G, XM_047441232.1:c.1236A>G, XM_047441217.1:c.1371A>G, XM_047441247.1:c.1236A>G, XM_047441220.1:c.1221A>G, XM_047441222.1:c.1371A>G, XM_047441221.1:c.1371A>G, XM_047441225.1:c.1371A>G, XM_047441224.1:c.1371A>G, XM_047441227.1:c.1371A>G, XM_047441229.1:c.1236A>G, XM_047441234.1:c.1221A>G, XM_047441231.1:c.1236A>G, XM_047441236.1:c.1371A>G, XM_047441238.1:c.1371A>G, XM_047441240.1:c.1371A>G, XM_047441244.1:c.1236A>G, XM_047441243.1:c.1236A>G, XM_047441246.1:c.1086A>G, XM_047441248.1:c.1371A>G, XM_047441249.1:c.1236A>G

      3.

      rs1490318678 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:24171756 (GRCh38)
        22:24567724 (GRCh37)
        Canonical SPDI:
        NC_000022.11:24171755:G:A
        Gene:
        CABIN1 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000028/1 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000022.11:g.24171756G>A, NC_000022.10:g.24567724G>A, NG_047136.1:g.165565G>A, NM_012295.4:c.5801G>A, NM_012295.3:c.5801G>A, NM_001201429.2:c.5651G>A, NM_001201429.1:c.5651G>A, NM_001199281.1:c.5801G>A, XM_005261415.4:c.5906G>A, XM_005261415.3:c.5906G>A, XM_005261415.2:c.5906G>A, XM_005261415.1:c.5906G>A, XM_005261416.4:c.5891G>A, XM_005261416.3:c.5891G>A, XM_005261416.2:c.5891G>A, XM_005261416.1:c.5891G>A, XM_005261417.4:c.5816G>A, XM_005261417.3:c.5816G>A, XM_005261417.2:c.5816G>A, XM_005261417.1:c.5816G>A, XM_006724179.3:c.5906G>A, XM_006724179.2:c.5906G>A, XM_006724179.1:c.5906G>A, XM_017028680.3:c.5891G>A, XM_017028680.2:c.5891G>A, XM_017028680.1:c.5891G>A, XM_017028681.3:c.5756G>A, XM_017028681.2:c.5756G>A, XM_017028681.1:c.5756G>A, XM_006724180.3:c.5729G>A, XM_006724180.2:c.5729G>A, XM_006724180.1:c.5729G>A, XM_006724181.3:c.5801G>A, XM_006724181.2:c.5801G>A, XM_006724181.1:c.5801G>A, XM_011530026.3:c.5711G>A, XM_011530026.2:c.5711G>A, XM_011530026.1:c.5711G>A, XM_017028683.3:c.5564G>A, XM_017028683.2:c.5564G>A, XM_017028683.1:c.5564G>A, XM_005261419.3:c.5771G>A, XM_005261419.2:c.5771G>A, XM_005261419.1:c.5771G>A, XM_024452186.2:c.5771G>A, XM_024452186.1:c.5771G>A, XM_024452187.2:c.5651G>A, XM_024452187.1:c.5651G>A, XM_024452184.2:c.5906G>A, XM_024452184.1:c.5906G>A, XM_047441223.1:c.5714G>A, XM_047441228.1:c.5681G>A, XM_047441218.1:c.5816G>A, XM_047441233.1:c.5666G>A, XM_047441230.1:c.5666G>A, XM_047441219.1:c.5801G>A, XM_047441235.1:c.5741G>A, XM_047441237.1:c.5621G>A, XM_047441239.1:c.5606G>A, XM_047441242.1:c.5666G>A, XM_047441241.1:c.5579G>A, XM_047441226.1:c.5801G>A, XM_047441245.1:c.5651G>A, XM_047441232.1:c.5666G>A, XM_047441217.1:c.5816G>A, XM_047441247.1:c.5471G>A, XM_047441220.1:c.5756G>A, XM_047441222.1:c.5729G>A, XM_047441221.1:c.5816G>A, XM_047441225.1:c.5714G>A, XM_047441224.1:c.5801G>A, XM_047441227.1:c.5711G>A, XM_047441229.1:c.5681G>A, XM_047441234.1:c.5666G>A, XM_047441231.1:c.5666G>A, XM_047441236.1:c.5714G>A, XM_047441238.1:c.5621G>A, XM_047441240.1:c.5606G>A, XM_047441244.1:c.5666G>A, XM_047441243.1:c.5579G>A, XM_047441246.1:c.5531G>A, NP_036427.1:p.Ser1934Asn, NP_001188358.1:p.Ser1884Asn, NP_001186210.1:p.Ser1934Asn, XP_005261472.1:p.Ser1969Asn, XP_005261473.1:p.Ser1964Asn, XP_005261474.1:p.Ser1939Asn, XP_006724242.1:p.Ser1969Asn, XP_016884169.1:p.Ser1964Asn, XP_016884170.1:p.Ser1919Asn, XP_006724243.1:p.Ser1910Asn, XP_006724244.1:p.Ser1934Asn, XP_011528328.1:p.Ser1904Asn, XP_016884172.1:p.Ser1855Asn, XP_005261476.1:p.Ser1924Asn, XP_024307954.1:p.Ser1924Asn, XP_024307955.1:p.Ser1884Asn, XP_024307952.1:p.Ser1969Asn, XP_047297179.1:p.Ser1905Asn, XP_047297184.1:p.Ser1894Asn, XP_047297174.1:p.Ser1939Asn, XP_047297189.1:p.Ser1889Asn, XP_047297186.1:p.Ser1889Asn, XP_047297175.1:p.Ser1934Asn, XP_047297191.1:p.Ser1914Asn, XP_047297193.1:p.Ser1874Asn, XP_047297195.1:p.Ser1869Asn, XP_047297198.1:p.Ser1889Asn, XP_047297197.1:p.Ser1860Asn, XP_047297182.1:p.Ser1934Asn, XP_047297201.1:p.Ser1884Asn, XP_047297188.1:p.Ser1889Asn, XP_047297173.1:p.Ser1939Asn, XP_047297203.1:p.Ser1824Asn, XP_047297176.1:p.Ser1919Asn, XP_047297178.1:p.Ser1910Asn, XP_047297177.1:p.Ser1939Asn, XP_047297181.1:p.Ser1905Asn, XP_047297180.1:p.Ser1934Asn, XP_047297183.1:p.Ser1904Asn, XP_047297185.1:p.Ser1894Asn, XP_047297190.1:p.Ser1889Asn, XP_047297187.1:p.Ser1889Asn, XP_047297192.1:p.Ser1905Asn, XP_047297194.1:p.Ser1874Asn, XP_047297196.1:p.Ser1869Asn, XP_047297200.1:p.Ser1889Asn, XP_047297199.1:p.Ser1860Asn, XP_047297202.1:p.Ser1844Asn

        4.

        rs1489955003 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          22:24063008 (GRCh38)
          22:24459471 (GRCh37)
          Canonical SPDI:
          NC_000022.11:24063007:T:A
          Gene:
          CABIN1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000022.11:g.24063008T>A, NC_000022.10:g.24459471T>A, NG_047136.1:g.56817T>A, NM_012295.4:c.1746T>A, NM_012295.3:c.1746T>A, NM_001201429.2:c.1596T>A, NM_001201429.1:c.1596T>A, NM_001199281.1:c.1746T>A, XM_005261415.4:c.1746T>A, XM_005261415.3:c.1746T>A, XM_005261415.2:c.1746T>A, XM_005261415.1:c.1746T>A, XM_005261416.4:c.1746T>A, XM_005261416.3:c.1746T>A, XM_005261416.2:c.1746T>A, XM_005261416.1:c.1746T>A, XM_005261417.4:c.1746T>A, XM_005261417.3:c.1746T>A, XM_005261417.2:c.1746T>A, XM_005261417.1:c.1746T>A, XM_006724179.3:c.1746T>A, XM_006724179.2:c.1746T>A, XM_006724179.1:c.1746T>A, XM_017028680.3:c.1746T>A, XM_017028680.2:c.1746T>A, XM_017028680.1:c.1746T>A, XM_017028681.3:c.1596T>A, XM_017028681.2:c.1596T>A, XM_017028681.1:c.1596T>A, XM_006724180.3:c.1746T>A, XM_006724180.2:c.1746T>A, XM_006724180.1:c.1746T>A, XM_006724181.3:c.1746T>A, XM_006724181.2:c.1746T>A, XM_006724181.1:c.1746T>A, XM_011530026.3:c.1746T>A, XM_011530026.2:c.1746T>A, XM_011530026.1:c.1746T>A, XM_017028683.3:c.1596T>A, XM_017028683.2:c.1596T>A, XM_017028683.1:c.1596T>A, XM_005261419.3:c.1611T>A, XM_005261419.2:c.1611T>A, XM_005261419.1:c.1611T>A, XM_024452186.2:c.1611T>A, XM_024452186.1:c.1611T>A, XM_024452187.2:c.1596T>A, XM_024452187.1:c.1596T>A, XM_024452184.2:c.1746T>A, XM_024452184.1:c.1746T>A, XM_047441223.1:c.1746T>A, XM_047441228.1:c.1611T>A, XM_047441218.1:c.1746T>A, XM_047441233.1:c.1596T>A, XM_047441230.1:c.1611T>A, XM_047441219.1:c.1746T>A, XM_047441235.1:c.1596T>A, XM_047441237.1:c.1746T>A, XM_047441239.1:c.1746T>A, XM_047441242.1:c.1611T>A, XM_047441241.1:c.1611T>A, XM_047441226.1:c.1746T>A, XM_047441245.1:c.1596T>A, XM_047441232.1:c.1611T>A, XM_047441217.1:c.1746T>A, XM_047441247.1:c.1611T>A, XM_047441220.1:c.1596T>A, XM_047441222.1:c.1746T>A, XM_047441221.1:c.1746T>A, XM_047441225.1:c.1746T>A, XM_047441224.1:c.1746T>A, XM_047441227.1:c.1746T>A, XM_047441229.1:c.1611T>A, XM_047441234.1:c.1596T>A, XM_047441231.1:c.1611T>A, XM_047441236.1:c.1746T>A, XM_047441238.1:c.1746T>A, XM_047441240.1:c.1746T>A, XM_047441244.1:c.1611T>A, XM_047441243.1:c.1611T>A, XM_047441246.1:c.1461T>A, XM_047441248.1:c.1746T>A, XM_047441249.1:c.1611T>A

          5.

          rs1489531415 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            22:24134325 (GRCh38)
            22:24530292 (GRCh37)
            Canonical SPDI:
            NC_000022.11:24134324:G:A,NC_000022.11:24134324:G:T
            Gene:
            CABIN1 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000022.11:g.24134325G>A, NC_000022.11:g.24134325G>T, NC_000022.10:g.24530292G>A, NC_000022.10:g.24530292G>T, NG_047136.1:g.128134G>A, NG_047136.1:g.128134G>T, NM_012295.4:c.4656G>A, NM_012295.4:c.4656G>T, NM_012295.3:c.4656G>A, NM_012295.3:c.4656G>T, NM_001201429.2:c.4506G>A, NM_001201429.2:c.4506G>T, NM_001201429.1:c.4506G>A, NM_001201429.1:c.4506G>T, NM_001199281.1:c.4656G>A, NM_001199281.1:c.4656G>T, XM_005261415.4:c.4746G>A, XM_005261415.4:c.4746G>T, XM_005261415.3:c.4746G>A, XM_005261415.3:c.4746G>T, XM_005261415.2:c.4746G>A, XM_005261415.2:c.4746G>T, XM_005261415.1:c.4746G>A, XM_005261415.1:c.4746G>T, XM_005261416.4:c.4746G>A, XM_005261416.4:c.4746G>T, XM_005261416.3:c.4746G>A, XM_005261416.3:c.4746G>T, XM_005261416.2:c.4746G>A, XM_005261416.2:c.4746G>T, XM_005261416.1:c.4746G>A, XM_005261416.1:c.4746G>T, XM_005261417.4:c.4656G>A, XM_005261417.4:c.4656G>T, XM_005261417.3:c.4656G>A, XM_005261417.3:c.4656G>T, XM_005261417.2:c.4656G>A, XM_005261417.2:c.4656G>T, XM_005261417.1:c.4656G>A, XM_005261417.1:c.4656G>T, XM_006724179.3:c.4746G>A, XM_006724179.3:c.4746G>T, XM_006724179.2:c.4746G>A, XM_006724179.2:c.4746G>T, XM_006724179.1:c.4746G>A, XM_006724179.1:c.4746G>T, XM_017028680.3:c.4746G>A, XM_017028680.3:c.4746G>T, XM_017028680.2:c.4746G>A, XM_017028680.2:c.4746G>T, XM_017028680.1:c.4746G>A, XM_017028680.1:c.4746G>T, XM_017028681.3:c.4596G>A, XM_017028681.3:c.4596G>T, XM_017028681.2:c.4596G>A, XM_017028681.2:c.4596G>T, XM_017028681.1:c.4596G>A, XM_017028681.1:c.4596G>T, XM_006724180.3:c.4569G>A, XM_006724180.3:c.4569G>T, XM_006724180.2:c.4569G>A, XM_006724180.2:c.4569G>T, XM_006724180.1:c.4569G>A, XM_006724180.1:c.4569G>T, XM_006724181.3:c.4656G>A, XM_006724181.3:c.4656G>T, XM_006724181.2:c.4656G>A, XM_006724181.2:c.4656G>T, XM_006724181.1:c.4656G>A, XM_006724181.1:c.4656G>T, XM_011530026.3:c.4551G>A, XM_011530026.3:c.4551G>T, XM_011530026.2:c.4551G>A, XM_011530026.2:c.4551G>T, XM_011530026.1:c.4551G>A, XM_011530026.1:c.4551G>T, XM_017028683.3:c.4419G>A, XM_017028683.3:c.4419G>T, XM_017028683.2:c.4419G>A, XM_017028683.2:c.4419G>T, XM_017028683.1:c.4419G>A, XM_017028683.1:c.4419G>T, XM_005261419.3:c.4611G>A, XM_005261419.3:c.4611G>T, XM_005261419.2:c.4611G>A, XM_005261419.2:c.4611G>T, XM_005261419.1:c.4611G>A, XM_005261419.1:c.4611G>T, XM_024452186.2:c.4611G>A, XM_024452186.2:c.4611G>T, XM_024452186.1:c.4611G>A, XM_024452186.1:c.4611G>T, XM_024452187.2:c.4506G>A, XM_024452187.2:c.4506G>T, XM_024452187.1:c.4506G>A, XM_024452187.1:c.4506G>T, XM_024452184.2:c.4746G>A, XM_024452184.2:c.4746G>T, XM_024452184.1:c.4746G>A, XM_024452184.1:c.4746G>T, XM_047441223.1:c.4569G>A, XM_047441223.1:c.4569G>T, XM_047441228.1:c.4521G>A, XM_047441228.1:c.4521G>T, XM_047441218.1:c.4656G>A, XM_047441218.1:c.4656G>T, XM_047441233.1:c.4506G>A, XM_047441233.1:c.4506G>T, XM_047441230.1:c.4521G>A, XM_047441230.1:c.4521G>T, XM_047441219.1:c.4656G>A, XM_047441219.1:c.4656G>T, XM_047441235.1:c.4596G>A, XM_047441235.1:c.4596G>T, XM_047441237.1:c.4461G>A, XM_047441237.1:c.4461G>T, XM_047441239.1:c.4461G>A, XM_047441239.1:c.4461G>T, XM_047441242.1:c.4521G>A, XM_047441242.1:c.4521G>T, XM_047441241.1:c.4434G>A, XM_047441241.1:c.4434G>T, XM_047441226.1:c.4656G>A, XM_047441226.1:c.4656G>T, XM_047441245.1:c.4506G>A, XM_047441245.1:c.4506G>T, XM_047441232.1:c.4521G>A, XM_047441232.1:c.4521G>T, XM_047441217.1:c.4656G>A, XM_047441217.1:c.4656G>T, XM_047441247.1:c.4326G>A, XM_047441247.1:c.4326G>T, XM_047441220.1:c.4596G>A, XM_047441220.1:c.4596G>T, XM_047441222.1:c.4569G>A, XM_047441222.1:c.4569G>T, XM_047441221.1:c.4656G>A, XM_047441221.1:c.4656G>T, XM_047441225.1:c.4569G>A, XM_047441225.1:c.4569G>T, XM_047441224.1:c.4656G>A, XM_047441224.1:c.4656G>T, XM_047441227.1:c.4551G>A, XM_047441227.1:c.4551G>T, XM_047441229.1:c.4521G>A, XM_047441229.1:c.4521G>T, XM_047441234.1:c.4506G>A, XM_047441234.1:c.4506G>T, XM_047441231.1:c.4521G>A, XM_047441231.1:c.4521G>T, XM_047441236.1:c.4569G>A, XM_047441236.1:c.4569G>T, XM_047441238.1:c.4461G>A, XM_047441238.1:c.4461G>T, XM_047441240.1:c.4461G>A, XM_047441240.1:c.4461G>T, XM_047441244.1:c.4521G>A, XM_047441244.1:c.4521G>T, XM_047441243.1:c.4434G>A, XM_047441243.1:c.4434G>T, XM_047441246.1:c.4371G>A, XM_047441246.1:c.4371G>T

            6.

            rs1489114989 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              22:24059262 (GRCh38)
              22:24455725 (GRCh37)
              Canonical SPDI:
              NC_000022.11:24059261:C:G,NC_000022.11:24059261:C:T
              Gene:
              CABIN1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000022.11:g.24059262C>G, NC_000022.11:g.24059262C>T, NC_000022.10:g.24455725C>G, NC_000022.10:g.24455725C>T, NG_047136.1:g.53071C>G, NG_047136.1:g.53071C>T, NM_012295.4:c.1298C>G, NM_012295.4:c.1298C>T, NM_012295.3:c.1298C>G, NM_012295.3:c.1298C>T, NM_001201429.2:c.1148C>G, NM_001201429.2:c.1148C>T, NM_001201429.1:c.1148C>G, NM_001201429.1:c.1148C>T, NM_001199281.1:c.1298C>G, NM_001199281.1:c.1298C>T, XM_005261415.4:c.1298C>G, XM_005261415.4:c.1298C>T, XM_005261415.3:c.1298C>G, XM_005261415.3:c.1298C>T, XM_005261415.2:c.1298C>G, XM_005261415.2:c.1298C>T, XM_005261415.1:c.1298C>G, XM_005261415.1:c.1298C>T, XM_005261416.4:c.1298C>G, XM_005261416.4:c.1298C>T, XM_005261416.3:c.1298C>G, XM_005261416.3:c.1298C>T, XM_005261416.2:c.1298C>G, XM_005261416.2:c.1298C>T, XM_005261416.1:c.1298C>G, XM_005261416.1:c.1298C>T, XM_005261417.4:c.1298C>G, XM_005261417.4:c.1298C>T, XM_005261417.3:c.1298C>G, XM_005261417.3:c.1298C>T, XM_005261417.2:c.1298C>G, XM_005261417.2:c.1298C>T, XM_005261417.1:c.1298C>G, XM_005261417.1:c.1298C>T, XM_006724179.3:c.1298C>G, XM_006724179.3:c.1298C>T, XM_006724179.2:c.1298C>G, XM_006724179.2:c.1298C>T, XM_006724179.1:c.1298C>G, XM_006724179.1:c.1298C>T, XM_017028680.3:c.1298C>G, XM_017028680.3:c.1298C>T, XM_017028680.2:c.1298C>G, XM_017028680.2:c.1298C>T, XM_017028680.1:c.1298C>G, XM_017028680.1:c.1298C>T, XM_017028681.3:c.1148C>G, XM_017028681.3:c.1148C>T, XM_017028681.2:c.1148C>G, XM_017028681.2:c.1148C>T, XM_017028681.1:c.1148C>G, XM_017028681.1:c.1148C>T, XM_006724180.3:c.1298C>G, XM_006724180.3:c.1298C>T, XM_006724180.2:c.1298C>G, XM_006724180.2:c.1298C>T, XM_006724180.1:c.1298C>G, XM_006724180.1:c.1298C>T, XM_006724181.3:c.1298C>G, XM_006724181.3:c.1298C>T, XM_006724181.2:c.1298C>G, XM_006724181.2:c.1298C>T, XM_006724181.1:c.1298C>G, XM_006724181.1:c.1298C>T, XM_011530026.3:c.1298C>G, XM_011530026.3:c.1298C>T, XM_011530026.2:c.1298C>G, XM_011530026.2:c.1298C>T, XM_011530026.1:c.1298C>G, XM_011530026.1:c.1298C>T, XM_017028683.3:c.1148C>G, XM_017028683.3:c.1148C>T, XM_017028683.2:c.1148C>G, XM_017028683.2:c.1148C>T, XM_017028683.1:c.1148C>G, XM_017028683.1:c.1148C>T, XM_005261419.3:c.1163C>G, XM_005261419.3:c.1163C>T, XM_005261419.2:c.1163C>G, XM_005261419.2:c.1163C>T, XM_005261419.1:c.1163C>G, XM_005261419.1:c.1163C>T, XM_024452186.2:c.1163C>G, XM_024452186.2:c.1163C>T, XM_024452186.1:c.1163C>G, XM_024452186.1:c.1163C>T, XM_024452187.2:c.1148C>G, XM_024452187.2:c.1148C>T, XM_024452187.1:c.1148C>G, XM_024452187.1:c.1148C>T, XM_024452184.2:c.1298C>G, XM_024452184.2:c.1298C>T, XM_024452184.1:c.1298C>G, XM_024452184.1:c.1298C>T, XM_047441223.1:c.1298C>G, XM_047441223.1:c.1298C>T, XM_047441228.1:c.1163C>G, XM_047441228.1:c.1163C>T, XM_047441218.1:c.1298C>G, XM_047441218.1:c.1298C>T, XM_047441233.1:c.1148C>G, XM_047441233.1:c.1148C>T, XM_047441230.1:c.1163C>G, XM_047441230.1:c.1163C>T, XM_047441219.1:c.1298C>G, XM_047441219.1:c.1298C>T, XM_047441235.1:c.1148C>G, XM_047441235.1:c.1148C>T, XM_047441237.1:c.1298C>G, XM_047441237.1:c.1298C>T, XM_047441239.1:c.1298C>G, XM_047441239.1:c.1298C>T, XM_047441242.1:c.1163C>G, XM_047441242.1:c.1163C>T, XM_047441241.1:c.1163C>G, XM_047441241.1:c.1163C>T, XM_047441226.1:c.1298C>G, XM_047441226.1:c.1298C>T, XM_047441245.1:c.1148C>G, XM_047441245.1:c.1148C>T, XM_047441232.1:c.1163C>G, XM_047441232.1:c.1163C>T, XM_047441217.1:c.1298C>G, XM_047441217.1:c.1298C>T, XM_047441247.1:c.1163C>G, XM_047441247.1:c.1163C>T, XM_047441220.1:c.1148C>G, XM_047441220.1:c.1148C>T, XM_047441222.1:c.1298C>G, XM_047441222.1:c.1298C>T, XM_047441221.1:c.1298C>G, XM_047441221.1:c.1298C>T, XM_047441225.1:c.1298C>G, XM_047441225.1:c.1298C>T, XM_047441224.1:c.1298C>G, XM_047441224.1:c.1298C>T, XM_047441227.1:c.1298C>G, XM_047441227.1:c.1298C>T, XM_047441229.1:c.1163C>G, XM_047441229.1:c.1163C>T, XM_047441234.1:c.1148C>G, XM_047441234.1:c.1148C>T, XM_047441231.1:c.1163C>G, XM_047441231.1:c.1163C>T, XM_047441236.1:c.1298C>G, XM_047441236.1:c.1298C>T, XM_047441238.1:c.1298C>G, XM_047441238.1:c.1298C>T, XM_047441240.1:c.1298C>G, XM_047441240.1:c.1298C>T, XM_047441244.1:c.1163C>G, XM_047441244.1:c.1163C>T, XM_047441243.1:c.1163C>G, XM_047441243.1:c.1163C>T, XM_047441246.1:c.1013C>G, XM_047441246.1:c.1013C>T, XM_047441248.1:c.1298C>G, XM_047441248.1:c.1298C>T, XM_047441249.1:c.1163C>G, XM_047441249.1:c.1163C>T, NP_036427.1:p.Ser433Cys, NP_036427.1:p.Ser433Phe, NP_001188358.1:p.Ser383Cys, NP_001188358.1:p.Ser383Phe, NP_001186210.1:p.Ser433Cys, NP_001186210.1:p.Ser433Phe, XP_005261472.1:p.Ser433Cys, XP_005261472.1:p.Ser433Phe, XP_005261473.1:p.Ser433Cys, XP_005261473.1:p.Ser433Phe, XP_005261474.1:p.Ser433Cys, XP_005261474.1:p.Ser433Phe, XP_006724242.1:p.Ser433Cys, XP_006724242.1:p.Ser433Phe, XP_016884169.1:p.Ser433Cys, XP_016884169.1:p.Ser433Phe, XP_016884170.1:p.Ser383Cys, XP_016884170.1:p.Ser383Phe, XP_006724243.1:p.Ser433Cys, XP_006724243.1:p.Ser433Phe, XP_006724244.1:p.Ser433Cys, XP_006724244.1:p.Ser433Phe, XP_011528328.1:p.Ser433Cys, XP_011528328.1:p.Ser433Phe, XP_016884172.1:p.Ser383Cys, XP_016884172.1:p.Ser383Phe, XP_005261476.1:p.Ser388Cys, XP_005261476.1:p.Ser388Phe, XP_024307954.1:p.Ser388Cys, XP_024307954.1:p.Ser388Phe, XP_024307955.1:p.Ser383Cys, XP_024307955.1:p.Ser383Phe, XP_024307952.1:p.Ser433Cys, XP_024307952.1:p.Ser433Phe, XP_047297179.1:p.Ser433Cys, XP_047297179.1:p.Ser433Phe, XP_047297184.1:p.Ser388Cys, XP_047297184.1:p.Ser388Phe, XP_047297174.1:p.Ser433Cys, XP_047297174.1:p.Ser433Phe, XP_047297189.1:p.Ser383Cys, XP_047297189.1:p.Ser383Phe, XP_047297186.1:p.Ser388Cys, XP_047297186.1:p.Ser388Phe, XP_047297175.1:p.Ser433Cys, XP_047297175.1:p.Ser433Phe, XP_047297191.1:p.Ser383Cys, XP_047297191.1:p.Ser383Phe, XP_047297193.1:p.Ser433Cys, XP_047297193.1:p.Ser433Phe, XP_047297195.1:p.Ser433Cys, XP_047297195.1:p.Ser433Phe, XP_047297198.1:p.Ser388Cys, XP_047297198.1:p.Ser388Phe, XP_047297197.1:p.Ser388Cys, XP_047297197.1:p.Ser388Phe, XP_047297182.1:p.Ser433Cys, XP_047297182.1:p.Ser433Phe, XP_047297201.1:p.Ser383Cys, XP_047297201.1:p.Ser383Phe, XP_047297188.1:p.Ser388Cys, XP_047297188.1:p.Ser388Phe, XP_047297173.1:p.Ser433Cys, XP_047297173.1:p.Ser433Phe, XP_047297203.1:p.Ser388Cys, XP_047297203.1:p.Ser388Phe, XP_047297176.1:p.Ser383Cys, XP_047297176.1:p.Ser383Phe, XP_047297178.1:p.Ser433Cys, XP_047297178.1:p.Ser433Phe, XP_047297177.1:p.Ser433Cys, XP_047297177.1:p.Ser433Phe, XP_047297181.1:p.Ser433Cys, XP_047297181.1:p.Ser433Phe, XP_047297180.1:p.Ser433Cys, XP_047297180.1:p.Ser433Phe, XP_047297183.1:p.Ser433Cys, XP_047297183.1:p.Ser433Phe, XP_047297185.1:p.Ser388Cys, XP_047297185.1:p.Ser388Phe, XP_047297190.1:p.Ser383Cys, XP_047297190.1:p.Ser383Phe, XP_047297187.1:p.Ser388Cys, XP_047297187.1:p.Ser388Phe, XP_047297192.1:p.Ser433Cys, XP_047297192.1:p.Ser433Phe, XP_047297194.1:p.Ser433Cys, XP_047297194.1:p.Ser433Phe, XP_047297196.1:p.Ser433Cys, XP_047297196.1:p.Ser433Phe, XP_047297200.1:p.Ser388Cys, XP_047297200.1:p.Ser388Phe, XP_047297199.1:p.Ser388Cys, XP_047297199.1:p.Ser388Phe, XP_047297202.1:p.Ser338Cys, XP_047297202.1:p.Ser338Phe, XP_047297204.1:p.Ser433Cys, XP_047297204.1:p.Ser433Phe, XP_047297205.1:p.Ser388Cys, XP_047297205.1:p.Ser388Phe

              7.

              rs1487926777 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                22:24070941 (GRCh38)
                22:24466892 (GRCh37)
                Canonical SPDI:
                NC_000022.11:24070940:A:T
                Gene:
                CABIN1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000022.11:g.24070941A>T, NC_000022.10:g.24466892A>T, NG_047136.1:g.64750A>T, NM_012295.4:c.2374A>T, NM_012295.3:c.2374A>T, NM_001201429.2:c.2224A>T, NM_001201429.1:c.2224A>T, NM_001199281.1:c.2374A>T, XM_005261415.4:c.2374A>T, XM_005261415.3:c.2374A>T, XM_005261415.2:c.2374A>T, XM_005261415.1:c.2374A>T, XM_005261416.4:c.2374A>T, XM_005261416.3:c.2374A>T, XM_005261416.2:c.2374A>T, XM_005261416.1:c.2374A>T, XM_005261417.4:c.2374A>T, XM_005261417.3:c.2374A>T, XM_005261417.2:c.2374A>T, XM_005261417.1:c.2374A>T, XM_006724179.3:c.2374A>T, XM_006724179.2:c.2374A>T, XM_006724179.1:c.2374A>T, XM_017028680.3:c.2374A>T, XM_017028680.2:c.2374A>T, XM_017028680.1:c.2374A>T, XM_017028681.3:c.2224A>T, XM_017028681.2:c.2224A>T, XM_017028681.1:c.2224A>T, XM_006724180.3:c.2374A>T, XM_006724180.2:c.2374A>T, XM_006724180.1:c.2374A>T, XM_006724181.3:c.2374A>T, XM_006724181.2:c.2374A>T, XM_006724181.1:c.2374A>T, XM_011530026.3:c.2179A>T, XM_011530026.2:c.2179A>T, XM_011530026.1:c.2179A>T, XM_017028683.3:c.2224A>T, XM_017028683.2:c.2224A>T, XM_017028683.1:c.2224A>T, XM_005261419.3:c.2239A>T, XM_005261419.2:c.2239A>T, XM_005261419.1:c.2239A>T, XM_024452186.2:c.2239A>T, XM_024452186.1:c.2239A>T, XM_024452187.2:c.2224A>T, XM_024452187.1:c.2224A>T, XM_024452184.2:c.2374A>T, XM_024452184.1:c.2374A>T, XM_047441223.1:c.2374A>T, XM_047441228.1:c.2239A>T, XM_047441218.1:c.2374A>T, XM_047441233.1:c.2224A>T, XM_047441230.1:c.2239A>T, XM_047441219.1:c.2374A>T, XM_047441235.1:c.2224A>T, XM_047441237.1:c.2179A>T, XM_047441239.1:c.2179A>T, XM_047441242.1:c.2239A>T, XM_047441241.1:c.2239A>T, XM_047441226.1:c.2374A>T, XM_047441245.1:c.2224A>T, XM_047441232.1:c.2239A>T, XM_047441217.1:c.2374A>T, XM_047441247.1:c.2044A>T, XM_047441220.1:c.2224A>T, XM_047441222.1:c.2374A>T, XM_047441221.1:c.2374A>T, XM_047441225.1:c.2374A>T, XM_047441224.1:c.2374A>T, XM_047441227.1:c.2179A>T, XM_047441229.1:c.2239A>T, XM_047441234.1:c.2224A>T, XM_047441231.1:c.2239A>T, XM_047441236.1:c.2374A>T, XM_047441238.1:c.2179A>T, XM_047441240.1:c.2179A>T, XM_047441244.1:c.2239A>T, XM_047441243.1:c.2239A>T, XM_047441246.1:c.2089A>T, XM_047441248.1:c.2374A>T, XM_047441249.1:c.2239A>T, NP_036427.1:p.Met792Leu, NP_001188358.1:p.Met742Leu, NP_001186210.1:p.Met792Leu, XP_005261472.1:p.Met792Leu, XP_005261473.1:p.Met792Leu, XP_005261474.1:p.Met792Leu, XP_006724242.1:p.Met792Leu, XP_016884169.1:p.Met792Leu, XP_016884170.1:p.Met742Leu, XP_006724243.1:p.Met792Leu, XP_006724244.1:p.Met792Leu, XP_011528328.1:p.Met727Leu, XP_016884172.1:p.Met742Leu, XP_005261476.1:p.Met747Leu, XP_024307954.1:p.Met747Leu, XP_024307955.1:p.Met742Leu, XP_024307952.1:p.Met792Leu, XP_047297179.1:p.Met792Leu, XP_047297184.1:p.Met747Leu, XP_047297174.1:p.Met792Leu, XP_047297189.1:p.Met742Leu, XP_047297186.1:p.Met747Leu, XP_047297175.1:p.Met792Leu, XP_047297191.1:p.Met742Leu, XP_047297193.1:p.Met727Leu, XP_047297195.1:p.Met727Leu, XP_047297198.1:p.Met747Leu, XP_047297197.1:p.Met747Leu, XP_047297182.1:p.Met792Leu, XP_047297201.1:p.Met742Leu, XP_047297188.1:p.Met747Leu, XP_047297173.1:p.Met792Leu, XP_047297203.1:p.Met682Leu, XP_047297176.1:p.Met742Leu, XP_047297178.1:p.Met792Leu, XP_047297177.1:p.Met792Leu, XP_047297181.1:p.Met792Leu, XP_047297180.1:p.Met792Leu, XP_047297183.1:p.Met727Leu, XP_047297185.1:p.Met747Leu, XP_047297190.1:p.Met742Leu, XP_047297187.1:p.Met747Leu, XP_047297192.1:p.Met792Leu, XP_047297194.1:p.Met727Leu, XP_047297196.1:p.Met727Leu, XP_047297200.1:p.Met747Leu, XP_047297199.1:p.Met747Leu, XP_047297202.1:p.Met697Leu, XP_047297204.1:p.Met792Leu, XP_047297205.1:p.Met747Leu

                8.

                rs1487434336 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  22:24036110 (GRCh38)
                  22:24432558 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:24036109:G:T
                  Gene:
                  CABIN1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.24036110G>T, NC_000022.10:g.24432558G>T, NG_047136.1:g.29919G>T, NM_012295.4:c.25G>T, NM_012295.3:c.25G>T, NM_001201429.2:c.25G>T, NM_001201429.1:c.25G>T, NM_001199281.1:c.25G>T, XM_005261415.4:c.25G>T, XM_005261415.3:c.25G>T, XM_005261415.2:c.25G>T, XM_005261415.1:c.25G>T, XM_005261416.4:c.25G>T, XM_005261416.3:c.25G>T, XM_005261416.2:c.25G>T, XM_005261416.1:c.25G>T, XM_005261417.4:c.25G>T, XM_005261417.3:c.25G>T, XM_005261417.2:c.25G>T, XM_005261417.1:c.25G>T, XM_006724179.3:c.25G>T, XM_006724179.2:c.25G>T, XM_006724179.1:c.25G>T, XM_017028680.3:c.25G>T, XM_017028680.2:c.25G>T, XM_017028680.1:c.25G>T, XM_017028681.3:c.25G>T, XM_017028681.2:c.25G>T, XM_017028681.1:c.25G>T, XM_006724180.3:c.25G>T, XM_006724180.2:c.25G>T, XM_006724180.1:c.25G>T, XM_006724181.3:c.25G>T, XM_006724181.2:c.25G>T, XM_006724181.1:c.25G>T, XM_011530026.3:c.25G>T, XM_011530026.2:c.25G>T, XM_011530026.1:c.25G>T, XM_017028683.3:c.25G>T, XM_017028683.2:c.25G>T, XM_017028683.1:c.25G>T, XM_005261419.3:c.25G>T, XM_005261419.2:c.25G>T, XM_005261419.1:c.25G>T, XM_024452186.2:c.25G>T, XM_024452186.1:c.25G>T, XM_024452187.2:c.25G>T, XM_024452187.1:c.25G>T, XM_024452184.2:c.25G>T, XM_024452184.1:c.25G>T, XM_047441223.1:c.25G>T, XM_047441228.1:c.25G>T, XM_047441218.1:c.25G>T, XM_047441233.1:c.25G>T, XM_047441230.1:c.25G>T, XM_047441219.1:c.25G>T, XM_047441235.1:c.25G>T, XM_047441237.1:c.25G>T, XM_047441239.1:c.25G>T, XM_047441242.1:c.25G>T, XM_047441241.1:c.25G>T, XM_047441226.1:c.25G>T, XM_047441245.1:c.25G>T, XM_047441232.1:c.25G>T, XM_047441217.1:c.25G>T, XM_047441247.1:c.25G>T, XM_047441220.1:c.25G>T, XM_047441222.1:c.25G>T, XM_047441221.1:c.25G>T, XM_047441225.1:c.25G>T, XM_047441224.1:c.25G>T, XM_047441227.1:c.25G>T, XM_047441229.1:c.25G>T, XM_047441234.1:c.25G>T, XM_047441231.1:c.25G>T, XM_047441236.1:c.25G>T, XM_047441238.1:c.25G>T, XM_047441240.1:c.25G>T, XM_047441244.1:c.25G>T, XM_047441243.1:c.25G>T, XM_047441246.1:c.25G>T, XM_047441248.1:c.25G>T, XM_047441249.1:c.25G>T, NP_036427.1:p.Ala9Ser, NP_001188358.1:p.Ala9Ser, NP_001186210.1:p.Ala9Ser, XP_005261472.1:p.Ala9Ser, XP_005261473.1:p.Ala9Ser, XP_005261474.1:p.Ala9Ser, XP_006724242.1:p.Ala9Ser, XP_016884169.1:p.Ala9Ser, XP_016884170.1:p.Ala9Ser, XP_006724243.1:p.Ala9Ser, XP_006724244.1:p.Ala9Ser, XP_011528328.1:p.Ala9Ser, XP_016884172.1:p.Ala9Ser, XP_005261476.1:p.Ala9Ser, XP_024307954.1:p.Ala9Ser, XP_024307955.1:p.Ala9Ser, XP_024307952.1:p.Ala9Ser, XP_047297179.1:p.Ala9Ser, XP_047297184.1:p.Ala9Ser, XP_047297174.1:p.Ala9Ser, XP_047297189.1:p.Ala9Ser, XP_047297186.1:p.Ala9Ser, XP_047297175.1:p.Ala9Ser, XP_047297191.1:p.Ala9Ser, XP_047297193.1:p.Ala9Ser, XP_047297195.1:p.Ala9Ser, XP_047297198.1:p.Ala9Ser, XP_047297197.1:p.Ala9Ser, XP_047297182.1:p.Ala9Ser, XP_047297201.1:p.Ala9Ser, XP_047297188.1:p.Ala9Ser, XP_047297173.1:p.Ala9Ser, XP_047297203.1:p.Ala9Ser, XP_047297176.1:p.Ala9Ser, XP_047297178.1:p.Ala9Ser, XP_047297177.1:p.Ala9Ser, XP_047297181.1:p.Ala9Ser, XP_047297180.1:p.Ala9Ser, XP_047297183.1:p.Ala9Ser, XP_047297185.1:p.Ala9Ser, XP_047297190.1:p.Ala9Ser, XP_047297187.1:p.Ala9Ser, XP_047297192.1:p.Ala9Ser, XP_047297194.1:p.Ala9Ser, XP_047297196.1:p.Ala9Ser, XP_047297200.1:p.Ala9Ser, XP_047297199.1:p.Ala9Ser, XP_047297202.1:p.Ala9Ser, XP_047297204.1:p.Ala9Ser, XP_047297205.1:p.Ala9Ser

                  9.

                  rs1486757660 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    22:24042953 (GRCh38)
                    22:24439415 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:24042952:A:G,NC_000022.11:24042952:A:T
                    Gene:
                    CABIN1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000022.11:g.24042953A>G, NC_000022.11:g.24042953A>T, NC_000022.10:g.24439415A>G, NC_000022.10:g.24439415A>T, NG_047136.1:g.36762A>G, NG_047136.1:g.36762A>T, NM_012295.4:c.395A>G, NM_012295.4:c.395A>T, NM_012295.3:c.395A>G, NM_012295.3:c.395A>T, NM_001201429.2:c.395A>G, NM_001201429.2:c.395A>T, NM_001201429.1:c.395A>G, NM_001201429.1:c.395A>T, NM_001199281.1:c.395A>G, NM_001199281.1:c.395A>T, XM_005261415.4:c.395A>G, XM_005261415.4:c.395A>T, XM_005261415.3:c.395A>G, XM_005261415.3:c.395A>T, XM_005261415.2:c.395A>G, XM_005261415.2:c.395A>T, XM_005261415.1:c.395A>G, XM_005261415.1:c.395A>T, XM_005261416.4:c.395A>G, XM_005261416.4:c.395A>T, XM_005261416.3:c.395A>G, XM_005261416.3:c.395A>T, XM_005261416.2:c.395A>G, XM_005261416.2:c.395A>T, XM_005261416.1:c.395A>G, XM_005261416.1:c.395A>T, XM_005261417.4:c.395A>G, XM_005261417.4:c.395A>T, XM_005261417.3:c.395A>G, XM_005261417.3:c.395A>T, XM_005261417.2:c.395A>G, XM_005261417.2:c.395A>T, XM_005261417.1:c.395A>G, XM_005261417.1:c.395A>T, XM_006724179.3:c.395A>G, XM_006724179.3:c.395A>T, XM_006724179.2:c.395A>G, XM_006724179.2:c.395A>T, XM_006724179.1:c.395A>G, XM_006724179.1:c.395A>T, XM_017028680.3:c.395A>G, XM_017028680.3:c.395A>T, XM_017028680.2:c.395A>G, XM_017028680.2:c.395A>T, XM_017028680.1:c.395A>G, XM_017028680.1:c.395A>T, XM_017028681.3:c.395A>G, XM_017028681.3:c.395A>T, XM_017028681.2:c.395A>G, XM_017028681.2:c.395A>T, XM_017028681.1:c.395A>G, XM_017028681.1:c.395A>T, XM_006724180.3:c.395A>G, XM_006724180.3:c.395A>T, XM_006724180.2:c.395A>G, XM_006724180.2:c.395A>T, XM_006724180.1:c.395A>G, XM_006724180.1:c.395A>T, XM_006724181.3:c.395A>G, XM_006724181.3:c.395A>T, XM_006724181.2:c.395A>G, XM_006724181.2:c.395A>T, XM_006724181.1:c.395A>G, XM_006724181.1:c.395A>T, XM_011530026.3:c.395A>G, XM_011530026.3:c.395A>T, XM_011530026.2:c.395A>G, XM_011530026.2:c.395A>T, XM_011530026.1:c.395A>G, XM_011530026.1:c.395A>T, XM_017028683.3:c.395A>G, XM_017028683.3:c.395A>T, XM_017028683.2:c.395A>G, XM_017028683.2:c.395A>T, XM_017028683.1:c.395A>G, XM_017028683.1:c.395A>T, XM_005261419.3:c.260A>G, XM_005261419.3:c.260A>T, XM_005261419.2:c.260A>G, XM_005261419.2:c.260A>T, XM_005261419.1:c.260A>G, XM_005261419.1:c.260A>T, XM_024452186.2:c.260A>G, XM_024452186.2:c.260A>T, XM_024452186.1:c.260A>G, XM_024452186.1:c.260A>T, XM_024452187.2:c.395A>G, XM_024452187.2:c.395A>T, XM_024452187.1:c.395A>G, XM_024452187.1:c.395A>T, XM_024452184.2:c.395A>G, XM_024452184.2:c.395A>T, XM_024452184.1:c.395A>G, XM_024452184.1:c.395A>T, XM_047441223.1:c.395A>G, XM_047441223.1:c.395A>T, XM_047441228.1:c.260A>G, XM_047441228.1:c.260A>T, XM_047441218.1:c.395A>G, XM_047441218.1:c.395A>T, XM_047441233.1:c.395A>G, XM_047441233.1:c.395A>T, XM_047441230.1:c.260A>G, XM_047441230.1:c.260A>T, XM_047441219.1:c.395A>G, XM_047441219.1:c.395A>T, XM_047441235.1:c.395A>G, XM_047441235.1:c.395A>T, XM_047441237.1:c.395A>G, XM_047441237.1:c.395A>T, XM_047441239.1:c.395A>G, XM_047441239.1:c.395A>T, XM_047441242.1:c.260A>G, XM_047441242.1:c.260A>T, XM_047441241.1:c.260A>G, XM_047441241.1:c.260A>T, XM_047441226.1:c.395A>G, XM_047441226.1:c.395A>T, XM_047441245.1:c.395A>G, XM_047441245.1:c.395A>T, XM_047441232.1:c.260A>G, XM_047441232.1:c.260A>T, XM_047441217.1:c.395A>G, XM_047441217.1:c.395A>T, XM_047441247.1:c.260A>G, XM_047441247.1:c.260A>T, XM_047441220.1:c.395A>G, XM_047441220.1:c.395A>T, XM_047441222.1:c.395A>G, XM_047441222.1:c.395A>T, XM_047441221.1:c.395A>G, XM_047441221.1:c.395A>T, XM_047441225.1:c.395A>G, XM_047441225.1:c.395A>T, XM_047441224.1:c.395A>G, XM_047441224.1:c.395A>T, XM_047441227.1:c.395A>G, XM_047441227.1:c.395A>T, XM_047441229.1:c.260A>G, XM_047441229.1:c.260A>T, XM_047441234.1:c.395A>G, XM_047441234.1:c.395A>T, XM_047441231.1:c.260A>G, XM_047441231.1:c.260A>T, XM_047441236.1:c.395A>G, XM_047441236.1:c.395A>T, XM_047441238.1:c.395A>G, XM_047441238.1:c.395A>T, XM_047441240.1:c.395A>G, XM_047441240.1:c.395A>T, XM_047441244.1:c.260A>G, XM_047441244.1:c.260A>T, XM_047441243.1:c.260A>G, XM_047441243.1:c.260A>T, XM_047441246.1:c.260A>G, XM_047441246.1:c.260A>T, XM_047441248.1:c.395A>G, XM_047441248.1:c.395A>T, XM_047441249.1:c.260A>G, XM_047441249.1:c.260A>T, NP_036427.1:p.His132Arg, NP_036427.1:p.His132Leu, NP_001188358.1:p.His132Arg, NP_001188358.1:p.His132Leu, NP_001186210.1:p.His132Arg, NP_001186210.1:p.His132Leu, XP_005261472.1:p.His132Arg, XP_005261472.1:p.His132Leu, XP_005261473.1:p.His132Arg, XP_005261473.1:p.His132Leu, XP_005261474.1:p.His132Arg, XP_005261474.1:p.His132Leu, XP_006724242.1:p.His132Arg, XP_006724242.1:p.His132Leu, XP_016884169.1:p.His132Arg, XP_016884169.1:p.His132Leu, XP_016884170.1:p.His132Arg, XP_016884170.1:p.His132Leu, XP_006724243.1:p.His132Arg, XP_006724243.1:p.His132Leu, XP_006724244.1:p.His132Arg, XP_006724244.1:p.His132Leu, XP_011528328.1:p.His132Arg, XP_011528328.1:p.His132Leu, XP_016884172.1:p.His132Arg, XP_016884172.1:p.His132Leu, XP_005261476.1:p.His87Arg, XP_005261476.1:p.His87Leu, XP_024307954.1:p.His87Arg, XP_024307954.1:p.His87Leu, XP_024307955.1:p.His132Arg, XP_024307955.1:p.His132Leu, XP_024307952.1:p.His132Arg, XP_024307952.1:p.His132Leu, XP_047297179.1:p.His132Arg, XP_047297179.1:p.His132Leu, XP_047297184.1:p.His87Arg, XP_047297184.1:p.His87Leu, XP_047297174.1:p.His132Arg, XP_047297174.1:p.His132Leu, XP_047297189.1:p.His132Arg, XP_047297189.1:p.His132Leu, XP_047297186.1:p.His87Arg, XP_047297186.1:p.His87Leu, XP_047297175.1:p.His132Arg, XP_047297175.1:p.His132Leu, XP_047297191.1:p.His132Arg, XP_047297191.1:p.His132Leu, XP_047297193.1:p.His132Arg, XP_047297193.1:p.His132Leu, XP_047297195.1:p.His132Arg, XP_047297195.1:p.His132Leu, XP_047297198.1:p.His87Arg, XP_047297198.1:p.His87Leu, XP_047297197.1:p.His87Arg, XP_047297197.1:p.His87Leu, XP_047297182.1:p.His132Arg, XP_047297182.1:p.His132Leu, XP_047297201.1:p.His132Arg, XP_047297201.1:p.His132Leu, XP_047297188.1:p.His87Arg, XP_047297188.1:p.His87Leu, XP_047297173.1:p.His132Arg, XP_047297173.1:p.His132Leu, XP_047297203.1:p.His87Arg, XP_047297203.1:p.His87Leu, XP_047297176.1:p.His132Arg, XP_047297176.1:p.His132Leu, XP_047297178.1:p.His132Arg, XP_047297178.1:p.His132Leu, XP_047297177.1:p.His132Arg, XP_047297177.1:p.His132Leu, XP_047297181.1:p.His132Arg, XP_047297181.1:p.His132Leu, XP_047297180.1:p.His132Arg, XP_047297180.1:p.His132Leu, XP_047297183.1:p.His132Arg, XP_047297183.1:p.His132Leu, XP_047297185.1:p.His87Arg, XP_047297185.1:p.His87Leu, XP_047297190.1:p.His132Arg, XP_047297190.1:p.His132Leu, XP_047297187.1:p.His87Arg, XP_047297187.1:p.His87Leu, XP_047297192.1:p.His132Arg, XP_047297192.1:p.His132Leu, XP_047297194.1:p.His132Arg, XP_047297194.1:p.His132Leu, XP_047297196.1:p.His132Arg, XP_047297196.1:p.His132Leu, XP_047297200.1:p.His87Arg, XP_047297200.1:p.His87Leu, XP_047297199.1:p.His87Arg, XP_047297199.1:p.His87Leu, XP_047297202.1:p.His87Arg, XP_047297202.1:p.His87Leu, XP_047297204.1:p.His132Arg, XP_047297204.1:p.His132Leu, XP_047297205.1:p.His87Arg, XP_047297205.1:p.His87Leu

                    10.

                    rs1486667759 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      22:24070885 (GRCh38)
                      22:24466836 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:24070884:A:G
                      Gene:
                      CABIN1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000022.11:g.24070885A>G, NC_000022.10:g.24466836A>G, NG_047136.1:g.64694A>G, NM_012295.4:c.2318A>G, NM_012295.3:c.2318A>G, NM_001201429.2:c.2168A>G, NM_001201429.1:c.2168A>G, NM_001199281.1:c.2318A>G, XM_005261415.4:c.2318A>G, XM_005261415.3:c.2318A>G, XM_005261415.2:c.2318A>G, XM_005261415.1:c.2318A>G, XM_005261416.4:c.2318A>G, XM_005261416.3:c.2318A>G, XM_005261416.2:c.2318A>G, XM_005261416.1:c.2318A>G, XM_005261417.4:c.2318A>G, XM_005261417.3:c.2318A>G, XM_005261417.2:c.2318A>G, XM_005261417.1:c.2318A>G, XM_006724179.3:c.2318A>G, XM_006724179.2:c.2318A>G, XM_006724179.1:c.2318A>G, XM_017028680.3:c.2318A>G, XM_017028680.2:c.2318A>G, XM_017028680.1:c.2318A>G, XM_017028681.3:c.2168A>G, XM_017028681.2:c.2168A>G, XM_017028681.1:c.2168A>G, XM_006724180.3:c.2318A>G, XM_006724180.2:c.2318A>G, XM_006724180.1:c.2318A>G, XM_006724181.3:c.2318A>G, XM_006724181.2:c.2318A>G, XM_006724181.1:c.2318A>G, XM_011530026.3:c.2123A>G, XM_011530026.2:c.2123A>G, XM_011530026.1:c.2123A>G, XM_017028683.3:c.2168A>G, XM_017028683.2:c.2168A>G, XM_017028683.1:c.2168A>G, XM_005261419.3:c.2183A>G, XM_005261419.2:c.2183A>G, XM_005261419.1:c.2183A>G, XM_024452186.2:c.2183A>G, XM_024452186.1:c.2183A>G, XM_024452187.2:c.2168A>G, XM_024452187.1:c.2168A>G, XM_024452184.2:c.2318A>G, XM_024452184.1:c.2318A>G, XM_047441223.1:c.2318A>G, XM_047441228.1:c.2183A>G, XM_047441218.1:c.2318A>G, XM_047441233.1:c.2168A>G, XM_047441230.1:c.2183A>G, XM_047441219.1:c.2318A>G, XM_047441235.1:c.2168A>G, XM_047441237.1:c.2123A>G, XM_047441239.1:c.2123A>G, XM_047441242.1:c.2183A>G, XM_047441241.1:c.2183A>G, XM_047441226.1:c.2318A>G, XM_047441245.1:c.2168A>G, XM_047441232.1:c.2183A>G, XM_047441217.1:c.2318A>G, XM_047441247.1:c.1988A>G, XM_047441220.1:c.2168A>G, XM_047441222.1:c.2318A>G, XM_047441221.1:c.2318A>G, XM_047441225.1:c.2318A>G, XM_047441224.1:c.2318A>G, XM_047441227.1:c.2123A>G, XM_047441229.1:c.2183A>G, XM_047441234.1:c.2168A>G, XM_047441231.1:c.2183A>G, XM_047441236.1:c.2318A>G, XM_047441238.1:c.2123A>G, XM_047441240.1:c.2123A>G, XM_047441244.1:c.2183A>G, XM_047441243.1:c.2183A>G, XM_047441246.1:c.2033A>G, XM_047441248.1:c.2318A>G, XM_047441249.1:c.2183A>G, NP_036427.1:p.Asn773Ser, NP_001188358.1:p.Asn723Ser, NP_001186210.1:p.Asn773Ser, XP_005261472.1:p.Asn773Ser, XP_005261473.1:p.Asn773Ser, XP_005261474.1:p.Asn773Ser, XP_006724242.1:p.Asn773Ser, XP_016884169.1:p.Asn773Ser, XP_016884170.1:p.Asn723Ser, XP_006724243.1:p.Asn773Ser, XP_006724244.1:p.Asn773Ser, XP_011528328.1:p.Asn708Ser, XP_016884172.1:p.Asn723Ser, XP_005261476.1:p.Asn728Ser, XP_024307954.1:p.Asn728Ser, XP_024307955.1:p.Asn723Ser, XP_024307952.1:p.Asn773Ser, XP_047297179.1:p.Asn773Ser, XP_047297184.1:p.Asn728Ser, XP_047297174.1:p.Asn773Ser, XP_047297189.1:p.Asn723Ser, XP_047297186.1:p.Asn728Ser, XP_047297175.1:p.Asn773Ser, XP_047297191.1:p.Asn723Ser, XP_047297193.1:p.Asn708Ser, XP_047297195.1:p.Asn708Ser, XP_047297198.1:p.Asn728Ser, XP_047297197.1:p.Asn728Ser, XP_047297182.1:p.Asn773Ser, XP_047297201.1:p.Asn723Ser, XP_047297188.1:p.Asn728Ser, XP_047297173.1:p.Asn773Ser, XP_047297203.1:p.Asn663Ser, XP_047297176.1:p.Asn723Ser, XP_047297178.1:p.Asn773Ser, XP_047297177.1:p.Asn773Ser, XP_047297181.1:p.Asn773Ser, XP_047297180.1:p.Asn773Ser, XP_047297183.1:p.Asn708Ser, XP_047297185.1:p.Asn728Ser, XP_047297190.1:p.Asn723Ser, XP_047297187.1:p.Asn728Ser, XP_047297192.1:p.Asn773Ser, XP_047297194.1:p.Asn708Ser, XP_047297196.1:p.Asn708Ser, XP_047297200.1:p.Asn728Ser, XP_047297199.1:p.Asn728Ser, XP_047297202.1:p.Asn678Ser, XP_047297204.1:p.Asn773Ser, XP_047297205.1:p.Asn728Ser

                      11.

                      rs1486069590 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        22:24049197 (GRCh38)
                        22:24445659 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:24049196:C:G,NC_000022.11:24049196:C:T
                        Gene:
                        CABIN1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000022.11:g.24049197C>G, NC_000022.11:g.24049197C>T, NC_000022.10:g.24445659C>G, NC_000022.10:g.24445659C>T, NG_047136.1:g.43006C>G, NG_047136.1:g.43006C>T, NM_012295.4:c.633C>G, NM_012295.4:c.633C>T, NM_012295.3:c.633C>G, NM_012295.3:c.633C>T, NM_001201429.2:c.633C>G, NM_001201429.2:c.633C>T, NM_001201429.1:c.633C>G, NM_001201429.1:c.633C>T, NM_001199281.1:c.633C>G, NM_001199281.1:c.633C>T, XM_005261415.4:c.633C>G, XM_005261415.4:c.633C>T, XM_005261415.3:c.633C>G, XM_005261415.3:c.633C>T, XM_005261415.2:c.633C>G, XM_005261415.2:c.633C>T, XM_005261415.1:c.633C>G, XM_005261415.1:c.633C>T, XM_005261416.4:c.633C>G, XM_005261416.4:c.633C>T, XM_005261416.3:c.633C>G, XM_005261416.3:c.633C>T, XM_005261416.2:c.633C>G, XM_005261416.2:c.633C>T, XM_005261416.1:c.633C>G, XM_005261416.1:c.633C>T, XM_005261417.4:c.633C>G, XM_005261417.4:c.633C>T, XM_005261417.3:c.633C>G, XM_005261417.3:c.633C>T, XM_005261417.2:c.633C>G, XM_005261417.2:c.633C>T, XM_005261417.1:c.633C>G, XM_005261417.1:c.633C>T, XM_006724179.3:c.633C>G, XM_006724179.3:c.633C>T, XM_006724179.2:c.633C>G, XM_006724179.2:c.633C>T, XM_006724179.1:c.633C>G, XM_006724179.1:c.633C>T, XM_017028680.3:c.633C>G, XM_017028680.3:c.633C>T, XM_017028680.2:c.633C>G, XM_017028680.2:c.633C>T, XM_017028680.1:c.633C>G, XM_017028680.1:c.633C>T, XM_017028681.3:c.633C>G, XM_017028681.3:c.633C>T, XM_017028681.2:c.633C>G, XM_017028681.2:c.633C>T, XM_017028681.1:c.633C>G, XM_017028681.1:c.633C>T, XM_006724180.3:c.633C>G, XM_006724180.3:c.633C>T, XM_006724180.2:c.633C>G, XM_006724180.2:c.633C>T, XM_006724180.1:c.633C>G, XM_006724180.1:c.633C>T, XM_006724181.3:c.633C>G, XM_006724181.3:c.633C>T, XM_006724181.2:c.633C>G, XM_006724181.2:c.633C>T, XM_006724181.1:c.633C>G, XM_006724181.1:c.633C>T, XM_011530026.3:c.633C>G, XM_011530026.3:c.633C>T, XM_011530026.2:c.633C>G, XM_011530026.2:c.633C>T, XM_011530026.1:c.633C>G, XM_011530026.1:c.633C>T, XM_017028683.3:c.633C>G, XM_017028683.3:c.633C>T, XM_017028683.2:c.633C>G, XM_017028683.2:c.633C>T, XM_017028683.1:c.633C>G, XM_017028683.1:c.633C>T, XM_005261419.3:c.498C>G, XM_005261419.3:c.498C>T, XM_005261419.2:c.498C>G, XM_005261419.2:c.498C>T, XM_005261419.1:c.498C>G, XM_005261419.1:c.498C>T, XM_024452186.2:c.498C>G, XM_024452186.2:c.498C>T, XM_024452186.1:c.498C>G, XM_024452186.1:c.498C>T, XM_024452187.2:c.633C>G, XM_024452187.2:c.633C>T, XM_024452187.1:c.633C>G, XM_024452187.1:c.633C>T, XM_024452184.2:c.633C>G, XM_024452184.2:c.633C>T, XM_024452184.1:c.633C>G, XM_024452184.1:c.633C>T, XM_047441223.1:c.633C>G, XM_047441223.1:c.633C>T, XM_047441228.1:c.498C>G, XM_047441228.1:c.498C>T, XM_047441218.1:c.633C>G, XM_047441218.1:c.633C>T, XM_047441233.1:c.633C>G, XM_047441233.1:c.633C>T, XM_047441230.1:c.498C>G, XM_047441230.1:c.498C>T, XM_047441219.1:c.633C>G, XM_047441219.1:c.633C>T, XM_047441235.1:c.633C>G, XM_047441235.1:c.633C>T, XM_047441237.1:c.633C>G, XM_047441237.1:c.633C>T, XM_047441239.1:c.633C>G, XM_047441239.1:c.633C>T, XM_047441242.1:c.498C>G, XM_047441242.1:c.498C>T, XM_047441241.1:c.498C>G, XM_047441241.1:c.498C>T, XM_047441226.1:c.633C>G, XM_047441226.1:c.633C>T, XM_047441245.1:c.633C>G, XM_047441245.1:c.633C>T, XM_047441232.1:c.498C>G, XM_047441232.1:c.498C>T, XM_047441217.1:c.633C>G, XM_047441217.1:c.633C>T, XM_047441247.1:c.498C>G, XM_047441247.1:c.498C>T, XM_047441220.1:c.633C>G, XM_047441220.1:c.633C>T, XM_047441222.1:c.633C>G, XM_047441222.1:c.633C>T, XM_047441221.1:c.633C>G, XM_047441221.1:c.633C>T, XM_047441225.1:c.633C>G, XM_047441225.1:c.633C>T, XM_047441224.1:c.633C>G, XM_047441224.1:c.633C>T, XM_047441227.1:c.633C>G, XM_047441227.1:c.633C>T, XM_047441229.1:c.498C>G, XM_047441229.1:c.498C>T, XM_047441234.1:c.633C>G, XM_047441234.1:c.633C>T, XM_047441231.1:c.498C>G, XM_047441231.1:c.498C>T, XM_047441236.1:c.633C>G, XM_047441236.1:c.633C>T, XM_047441238.1:c.633C>G, XM_047441238.1:c.633C>T, XM_047441240.1:c.633C>G, XM_047441240.1:c.633C>T, XM_047441244.1:c.498C>G, XM_047441244.1:c.498C>T, XM_047441243.1:c.498C>G, XM_047441243.1:c.498C>T, XM_047441246.1:c.498C>G, XM_047441246.1:c.498C>T, XM_047441248.1:c.633C>G, XM_047441248.1:c.633C>T, XM_047441249.1:c.498C>G, XM_047441249.1:c.498C>T, NP_036427.1:p.Asp211Glu, NP_001188358.1:p.Asp211Glu, NP_001186210.1:p.Asp211Glu, XP_005261472.1:p.Asp211Glu, XP_005261473.1:p.Asp211Glu, XP_005261474.1:p.Asp211Glu, XP_006724242.1:p.Asp211Glu, XP_016884169.1:p.Asp211Glu, XP_016884170.1:p.Asp211Glu, XP_006724243.1:p.Asp211Glu, XP_006724244.1:p.Asp211Glu, XP_011528328.1:p.Asp211Glu, XP_016884172.1:p.Asp211Glu, XP_005261476.1:p.Asp166Glu, XP_024307954.1:p.Asp166Glu, XP_024307955.1:p.Asp211Glu, XP_024307952.1:p.Asp211Glu, XP_047297179.1:p.Asp211Glu, XP_047297184.1:p.Asp166Glu, XP_047297174.1:p.Asp211Glu, XP_047297189.1:p.Asp211Glu, XP_047297186.1:p.Asp166Glu, XP_047297175.1:p.Asp211Glu, XP_047297191.1:p.Asp211Glu, XP_047297193.1:p.Asp211Glu, XP_047297195.1:p.Asp211Glu, XP_047297198.1:p.Asp166Glu, XP_047297197.1:p.Asp166Glu, XP_047297182.1:p.Asp211Glu, XP_047297201.1:p.Asp211Glu, XP_047297188.1:p.Asp166Glu, XP_047297173.1:p.Asp211Glu, XP_047297203.1:p.Asp166Glu, XP_047297176.1:p.Asp211Glu, XP_047297178.1:p.Asp211Glu, XP_047297177.1:p.Asp211Glu, XP_047297181.1:p.Asp211Glu, XP_047297180.1:p.Asp211Glu, XP_047297183.1:p.Asp211Glu, XP_047297185.1:p.Asp166Glu, XP_047297190.1:p.Asp211Glu, XP_047297187.1:p.Asp166Glu, XP_047297192.1:p.Asp211Glu, XP_047297194.1:p.Asp211Glu, XP_047297196.1:p.Asp211Glu, XP_047297200.1:p.Asp166Glu, XP_047297199.1:p.Asp166Glu, XP_047297202.1:p.Asp166Glu, XP_047297204.1:p.Asp211Glu, XP_047297205.1:p.Asp166Glu

                        12.

                        rs1485564920 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          22:24087458 (GRCh38)
                          22:24483411 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:24087457:T:C
                          Gene:
                          CABIN1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.24087458T>C, NC_000022.10:g.24483411T>C, NG_047136.1:g.81267T>C, NM_012295.4:c.3270T>C, NM_012295.3:c.3270T>C, NM_001201429.2:c.3120T>C, NM_001201429.1:c.3120T>C, NM_001199281.1:c.3270T>C, XM_005261415.4:c.3270T>C, XM_005261415.3:c.3270T>C, XM_005261415.2:c.3270T>C, XM_005261415.1:c.3270T>C, XM_005261416.4:c.3270T>C, XM_005261416.3:c.3270T>C, XM_005261416.2:c.3270T>C, XM_005261416.1:c.3270T>C, XM_005261417.4:c.3270T>C, XM_005261417.3:c.3270T>C, XM_005261417.2:c.3270T>C, XM_005261417.1:c.3270T>C, XM_006724179.3:c.3270T>C, XM_006724179.2:c.3270T>C, XM_006724179.1:c.3270T>C, XM_017028680.3:c.3270T>C, XM_017028680.2:c.3270T>C, XM_017028680.1:c.3270T>C, XM_017028681.3:c.3120T>C, XM_017028681.2:c.3120T>C, XM_017028681.1:c.3120T>C, XM_006724180.3:c.3270T>C, XM_006724180.2:c.3270T>C, XM_006724180.1:c.3270T>C, XM_006724181.3:c.3270T>C, XM_006724181.2:c.3270T>C, XM_006724181.1:c.3270T>C, XM_011530026.3:c.3075T>C, XM_011530026.2:c.3075T>C, XM_011530026.1:c.3075T>C, XM_017028683.3:c.3120T>C, XM_017028683.2:c.3120T>C, XM_017028683.1:c.3120T>C, XM_005261419.3:c.3135T>C, XM_005261419.2:c.3135T>C, XM_005261419.1:c.3135T>C, XM_024452186.2:c.3135T>C, XM_024452186.1:c.3135T>C, XM_024452187.2:c.3120T>C, XM_024452187.1:c.3120T>C, XM_024452184.2:c.3270T>C, XM_024452184.1:c.3270T>C, XM_047441223.1:c.3270T>C, XM_047441228.1:c.3135T>C, XM_047441218.1:c.3270T>C, XM_047441233.1:c.3120T>C, XM_047441230.1:c.3135T>C, XM_047441219.1:c.3270T>C, XM_047441235.1:c.3120T>C, XM_047441237.1:c.3075T>C, XM_047441239.1:c.3075T>C, XM_047441242.1:c.3135T>C, XM_047441241.1:c.3135T>C, XM_047441226.1:c.3270T>C, XM_047441245.1:c.3120T>C, XM_047441232.1:c.3135T>C, XM_047441217.1:c.3270T>C, XM_047441247.1:c.2940T>C, XM_047441220.1:c.3120T>C, XM_047441222.1:c.3270T>C, XM_047441221.1:c.3270T>C, XM_047441225.1:c.3270T>C, XM_047441224.1:c.3270T>C, XM_047441227.1:c.3075T>C, XM_047441229.1:c.3135T>C, XM_047441234.1:c.3120T>C, XM_047441231.1:c.3135T>C, XM_047441236.1:c.3270T>C, XM_047441238.1:c.3075T>C, XM_047441240.1:c.3075T>C, XM_047441244.1:c.3135T>C, XM_047441243.1:c.3135T>C, XM_047441246.1:c.2985T>C, XM_047441248.1:c.3270T>C, XM_047441249.1:c.3135T>C

                          13.

                          rs1485476615 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            22:24166721 (GRCh38)
                            22:24562689 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:24166720:A:T
                            Gene:
                            CABIN1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000022.11:g.24166721A>T, NC_000022.10:g.24562689A>T, NG_047136.1:g.160530A>T, NM_012295.4:c.5090A>T, NM_012295.3:c.5090A>T, NM_001201429.2:c.4940A>T, NM_001201429.1:c.4940A>T, NM_001199281.1:c.5090A>T, XM_005261415.4:c.5180A>T, XM_005261415.3:c.5180A>T, XM_005261415.2:c.5180A>T, XM_005261415.1:c.5180A>T, XM_005261416.4:c.5180A>T, XM_005261416.3:c.5180A>T, XM_005261416.2:c.5180A>T, XM_005261416.1:c.5180A>T, XM_005261417.4:c.5090A>T, XM_005261417.3:c.5090A>T, XM_005261417.2:c.5090A>T, XM_005261417.1:c.5090A>T, XM_006724179.3:c.5180A>T, XM_006724179.2:c.5180A>T, XM_006724179.1:c.5180A>T, XM_017028680.3:c.5180A>T, XM_017028680.2:c.5180A>T, XM_017028680.1:c.5180A>T, XM_017028681.3:c.5030A>T, XM_017028681.2:c.5030A>T, XM_017028681.1:c.5030A>T, XM_006724180.3:c.5003A>T, XM_006724180.2:c.5003A>T, XM_006724180.1:c.5003A>T, XM_006724181.3:c.5090A>T, XM_006724181.2:c.5090A>T, XM_006724181.1:c.5090A>T, XM_011530026.3:c.4985A>T, XM_011530026.2:c.4985A>T, XM_011530026.1:c.4985A>T, XM_017028683.3:c.4853A>T, XM_017028683.2:c.4853A>T, XM_017028683.1:c.4853A>T, XM_005261419.3:c.5045A>T, XM_005261419.2:c.5045A>T, XM_005261419.1:c.5045A>T, XM_024452186.2:c.5045A>T, XM_024452186.1:c.5045A>T, XM_024452187.2:c.4940A>T, XM_024452187.1:c.4940A>T, XM_024452184.2:c.5180A>T, XM_024452184.1:c.5180A>T, XM_047441223.1:c.5003A>T, XM_047441228.1:c.4955A>T, XM_047441218.1:c.5090A>T, XM_047441233.1:c.4940A>T, XM_047441230.1:c.4955A>T, XM_047441219.1:c.5090A>T, XM_047441235.1:c.5030A>T, XM_047441237.1:c.4895A>T, XM_047441239.1:c.4895A>T, XM_047441242.1:c.4955A>T, XM_047441241.1:c.4868A>T, XM_047441226.1:c.5090A>T, XM_047441245.1:c.4940A>T, XM_047441232.1:c.4955A>T, XM_047441217.1:c.5090A>T, XM_047441247.1:c.4760A>T, XM_047441220.1:c.5030A>T, XM_047441222.1:c.5003A>T, XM_047441221.1:c.5090A>T, XM_047441225.1:c.5003A>T, XM_047441224.1:c.5090A>T, XM_047441227.1:c.4985A>T, XM_047441229.1:c.4955A>T, XM_047441234.1:c.4940A>T, XM_047441231.1:c.4955A>T, XM_047441236.1:c.5003A>T, XM_047441238.1:c.4895A>T, XM_047441240.1:c.4895A>T, XM_047441244.1:c.4955A>T, XM_047441243.1:c.4868A>T, XM_047441246.1:c.4805A>T, NP_036427.1:p.Glu1697Val, NP_001188358.1:p.Glu1647Val, NP_001186210.1:p.Glu1697Val, XP_005261472.1:p.Glu1727Val, XP_005261473.1:p.Glu1727Val, XP_005261474.1:p.Glu1697Val, XP_006724242.1:p.Glu1727Val, XP_016884169.1:p.Glu1727Val, XP_016884170.1:p.Glu1677Val, XP_006724243.1:p.Glu1668Val, XP_006724244.1:p.Glu1697Val, XP_011528328.1:p.Glu1662Val, XP_016884172.1:p.Glu1618Val, XP_005261476.1:p.Glu1682Val, XP_024307954.1:p.Glu1682Val, XP_024307955.1:p.Glu1647Val, XP_024307952.1:p.Glu1727Val, XP_047297179.1:p.Glu1668Val, XP_047297184.1:p.Glu1652Val, XP_047297174.1:p.Glu1697Val, XP_047297189.1:p.Glu1647Val, XP_047297186.1:p.Glu1652Val, XP_047297175.1:p.Glu1697Val, XP_047297191.1:p.Glu1677Val, XP_047297193.1:p.Glu1632Val, XP_047297195.1:p.Glu1632Val, XP_047297198.1:p.Glu1652Val, XP_047297197.1:p.Glu1623Val, XP_047297182.1:p.Glu1697Val, XP_047297201.1:p.Glu1647Val, XP_047297188.1:p.Glu1652Val, XP_047297173.1:p.Glu1697Val, XP_047297203.1:p.Glu1587Val, XP_047297176.1:p.Glu1677Val, XP_047297178.1:p.Glu1668Val, XP_047297177.1:p.Glu1697Val, XP_047297181.1:p.Glu1668Val, XP_047297180.1:p.Glu1697Val, XP_047297183.1:p.Glu1662Val, XP_047297185.1:p.Glu1652Val, XP_047297190.1:p.Glu1647Val, XP_047297187.1:p.Glu1652Val, XP_047297192.1:p.Glu1668Val, XP_047297194.1:p.Glu1632Val, XP_047297196.1:p.Glu1632Val, XP_047297200.1:p.Glu1652Val, XP_047297199.1:p.Glu1623Val, XP_047297202.1:p.Glu1602Val

                            14.

                            rs1485354685 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:24177599 (GRCh38)
                              22:24573567 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:24177598:T:C
                              Gene:
                              CABIN1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.24177599T>C, NC_000022.10:g.24573567T>C, NG_047136.1:g.171408T>C, NM_012295.4:c.6301T>C, NM_012295.3:c.6301T>C, NM_001201429.2:c.6151T>C, NM_001201429.1:c.6151T>C, NM_001199281.1:c.6301T>C, XM_005261415.4:c.6406T>C, XM_005261415.3:c.6406T>C, XM_005261415.2:c.6406T>C, XM_005261415.1:c.6406T>C, XM_005261416.4:c.6391T>C, XM_005261416.3:c.6391T>C, XM_005261416.2:c.6391T>C, XM_005261416.1:c.6391T>C, XM_005261417.4:c.6316T>C, XM_005261417.3:c.6316T>C, XM_005261417.2:c.6316T>C, XM_005261417.1:c.6316T>C, XM_006724179.3:c.6319T>C, XM_006724179.2:c.6319T>C, XM_006724179.1:c.6319T>C, XM_017028680.3:c.6304T>C, XM_017028680.2:c.6304T>C, XM_017028680.1:c.6304T>C, XM_017028681.3:c.6256T>C, XM_017028681.2:c.6256T>C, XM_017028681.1:c.6256T>C, XM_006724180.3:c.6229T>C, XM_006724180.2:c.6229T>C, XM_006724180.1:c.6229T>C, XM_006724181.3:c.6214T>C, XM_006724181.2:c.6214T>C, XM_006724181.1:c.6214T>C, XM_011530026.3:c.6211T>C, XM_011530026.2:c.6211T>C, XM_011530026.1:c.6211T>C, XM_017028683.3:c.6064T>C, XM_017028683.2:c.6064T>C, XM_017028683.1:c.6064T>C, XM_005261419.3:c.6271T>C, XM_005261419.2:c.6271T>C, XM_005261419.1:c.6271T>C, XM_024452186.2:c.6271T>C, XM_024452186.1:c.6271T>C, XM_024452187.2:c.6151T>C, XM_024452187.1:c.6151T>C, XM_024452184.2:c.6406T>C, XM_024452184.1:c.6406T>C, XM_047441223.1:c.6214T>C, XM_047441228.1:c.6181T>C, XM_047441218.1:c.6316T>C, XM_047441233.1:c.6166T>C, XM_047441230.1:c.6166T>C, XM_047441219.1:c.6301T>C, XM_047441235.1:c.6154T>C, XM_047441237.1:c.6121T>C, XM_047441239.1:c.6106T>C, XM_047441242.1:c.6079T>C, XM_047441241.1:c.6079T>C, XM_047441226.1:c.6214T>C, XM_047441245.1:c.6064T>C, XM_047441232.1:c.6166T>C, XM_047441217.1:c.6316T>C, XM_047441247.1:c.5971T>C, XM_047441220.1:c.6256T>C, XM_047441222.1:c.6229T>C, XM_047441221.1:c.6229T>C, XM_047441225.1:c.6214T>C, XM_047441224.1:c.6214T>C, XM_047441227.1:c.6211T>C, XM_047441229.1:c.6181T>C, XM_047441234.1:c.6166T>C, XM_047441231.1:c.6166T>C, XM_047441236.1:c.6127T>C, XM_047441238.1:c.6121T>C, XM_047441240.1:c.6106T>C, XM_047441244.1:c.6079T>C, XM_047441243.1:c.6079T>C, XM_047441246.1:c.6031T>C, NP_036427.1:p.Ser2101Pro, NP_001188358.1:p.Ser2051Pro, NP_001186210.1:p.Ser2101Pro, XP_005261472.1:p.Ser2136Pro, XP_005261473.1:p.Ser2131Pro, XP_005261474.1:p.Ser2106Pro, XP_006724242.1:p.Ser2107Pro, XP_016884169.1:p.Ser2102Pro, XP_016884170.1:p.Ser2086Pro, XP_006724243.1:p.Ser2077Pro, XP_006724244.1:p.Ser2072Pro, XP_011528328.1:p.Ser2071Pro, XP_016884172.1:p.Ser2022Pro, XP_005261476.1:p.Ser2091Pro, XP_024307954.1:p.Ser2091Pro, XP_024307955.1:p.Ser2051Pro, XP_024307952.1:p.Ser2136Pro, XP_047297179.1:p.Ser2072Pro, XP_047297184.1:p.Ser2061Pro, XP_047297174.1:p.Ser2106Pro, XP_047297189.1:p.Ser2056Pro, XP_047297186.1:p.Ser2056Pro, XP_047297175.1:p.Ser2101Pro, XP_047297191.1:p.Ser2052Pro, XP_047297193.1:p.Ser2041Pro, XP_047297195.1:p.Ser2036Pro, XP_047297198.1:p.Ser2027Pro, XP_047297197.1:p.Ser2027Pro, XP_047297182.1:p.Ser2072Pro, XP_047297201.1:p.Ser2022Pro, XP_047297188.1:p.Ser2056Pro, XP_047297173.1:p.Ser2106Pro, XP_047297203.1:p.Ser1991Pro, XP_047297176.1:p.Ser2086Pro, XP_047297178.1:p.Ser2077Pro, XP_047297177.1:p.Ser2077Pro, XP_047297181.1:p.Ser2072Pro, XP_047297180.1:p.Ser2072Pro, XP_047297183.1:p.Ser2071Pro, XP_047297185.1:p.Ser2061Pro, XP_047297190.1:p.Ser2056Pro, XP_047297187.1:p.Ser2056Pro, XP_047297192.1:p.Ser2043Pro, XP_047297194.1:p.Ser2041Pro, XP_047297196.1:p.Ser2036Pro, XP_047297200.1:p.Ser2027Pro, XP_047297199.1:p.Ser2027Pro, XP_047297202.1:p.Ser2011Pro

                              15.

                              rs1484931681 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:24171980 (GRCh38)
                                22:24567948 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:24171979:G:A
                                Gene:
                                CABIN1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.0003/1 (KOREAN)
                                HGVS:
                                NC_000022.11:g.24171980G>A, NC_000022.10:g.24567948G>A, NG_047136.1:g.165789G>A, NM_012295.4:c.6025G>A, NM_012295.3:c.6025G>A, NM_001201429.2:c.5875G>A, NM_001201429.1:c.5875G>A, NM_001199281.1:c.6025G>A, XM_005261415.4:c.6130G>A, XM_005261415.3:c.6130G>A, XM_005261415.2:c.6130G>A, XM_005261415.1:c.6130G>A, XM_005261416.4:c.6115G>A, XM_005261416.3:c.6115G>A, XM_005261416.2:c.6115G>A, XM_005261416.1:c.6115G>A, XM_005261417.4:c.6040G>A, XM_005261417.3:c.6040G>A, XM_005261417.2:c.6040G>A, XM_005261417.1:c.6040G>A, XM_006724179.3:c.6130G>A, XM_006724179.2:c.6130G>A, XM_006724179.1:c.6130G>A, XM_017028680.3:c.6115G>A, XM_017028680.2:c.6115G>A, XM_017028680.1:c.6115G>A, XM_017028681.3:c.5980G>A, XM_017028681.2:c.5980G>A, XM_017028681.1:c.5980G>A, XM_006724180.3:c.5953G>A, XM_006724180.2:c.5953G>A, XM_006724180.1:c.5953G>A, XM_006724181.3:c.6025G>A, XM_006724181.2:c.6025G>A, XM_006724181.1:c.6025G>A, XM_011530026.3:c.5935G>A, XM_011530026.2:c.5935G>A, XM_011530026.1:c.5935G>A, XM_017028683.3:c.5788G>A, XM_017028683.2:c.5788G>A, XM_017028683.1:c.5788G>A, XM_005261419.3:c.5995G>A, XM_005261419.2:c.5995G>A, XM_005261419.1:c.5995G>A, XM_024452186.2:c.5995G>A, XM_024452186.1:c.5995G>A, XM_024452187.2:c.5875G>A, XM_024452187.1:c.5875G>A, XM_024452184.2:c.6130G>A, XM_024452184.1:c.6130G>A, XM_047441223.1:c.5938G>A, XM_047441228.1:c.5905G>A, XM_047441218.1:c.6040G>A, XM_047441233.1:c.5890G>A, XM_047441230.1:c.5890G>A, XM_047441219.1:c.6025G>A, XM_047441235.1:c.5965G>A, XM_047441237.1:c.5845G>A, XM_047441239.1:c.5830G>A, XM_047441242.1:c.5890G>A, XM_047441241.1:c.5803G>A, XM_047441226.1:c.6025G>A, XM_047441245.1:c.5875G>A, XM_047441232.1:c.5890G>A, XM_047441217.1:c.6040G>A, XM_047441247.1:c.5695G>A, XM_047441220.1:c.5980G>A, XM_047441222.1:c.5953G>A, XM_047441221.1:c.6040G>A, XM_047441225.1:c.5938G>A, XM_047441224.1:c.6025G>A, XM_047441227.1:c.5935G>A, XM_047441229.1:c.5905G>A, XM_047441234.1:c.5890G>A, XM_047441231.1:c.5890G>A, XM_047441236.1:c.5938G>A, XM_047441238.1:c.5845G>A, XM_047441240.1:c.5830G>A, XM_047441244.1:c.5890G>A, XM_047441243.1:c.5803G>A, XM_047441246.1:c.5755G>A, NP_036427.1:p.Ala2009Thr, NP_001188358.1:p.Ala1959Thr, NP_001186210.1:p.Ala2009Thr, XP_005261472.1:p.Ala2044Thr, XP_005261473.1:p.Ala2039Thr, XP_005261474.1:p.Ala2014Thr, XP_006724242.1:p.Ala2044Thr, XP_016884169.1:p.Ala2039Thr, XP_016884170.1:p.Ala1994Thr, XP_006724243.1:p.Ala1985Thr, XP_006724244.1:p.Ala2009Thr, XP_011528328.1:p.Ala1979Thr, XP_016884172.1:p.Ala1930Thr, XP_005261476.1:p.Ala1999Thr, XP_024307954.1:p.Ala1999Thr, XP_024307955.1:p.Ala1959Thr, XP_024307952.1:p.Ala2044Thr, XP_047297179.1:p.Ala1980Thr, XP_047297184.1:p.Ala1969Thr, XP_047297174.1:p.Ala2014Thr, XP_047297189.1:p.Ala1964Thr, XP_047297186.1:p.Ala1964Thr, XP_047297175.1:p.Ala2009Thr, XP_047297191.1:p.Ala1989Thr, XP_047297193.1:p.Ala1949Thr, XP_047297195.1:p.Ala1944Thr, XP_047297198.1:p.Ala1964Thr, XP_047297197.1:p.Ala1935Thr, XP_047297182.1:p.Ala2009Thr, XP_047297201.1:p.Ala1959Thr, XP_047297188.1:p.Ala1964Thr, XP_047297173.1:p.Ala2014Thr, XP_047297203.1:p.Ala1899Thr, XP_047297176.1:p.Ala1994Thr, XP_047297178.1:p.Ala1985Thr, XP_047297177.1:p.Ala2014Thr, XP_047297181.1:p.Ala1980Thr, XP_047297180.1:p.Ala2009Thr, XP_047297183.1:p.Ala1979Thr, XP_047297185.1:p.Ala1969Thr, XP_047297190.1:p.Ala1964Thr, XP_047297187.1:p.Ala1964Thr, XP_047297192.1:p.Ala1980Thr, XP_047297194.1:p.Ala1949Thr, XP_047297196.1:p.Ala1944Thr, XP_047297200.1:p.Ala1964Thr, XP_047297199.1:p.Ala1935Thr, XP_047297202.1:p.Ala1919Thr

                                16.

                                rs1483382570 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  22:24171914 (GRCh38)
                                  22:24567882 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:24171913:A:G
                                  Gene:
                                  CABIN1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.24171914A>G, NC_000022.10:g.24567882A>G, NG_047136.1:g.165723A>G, NM_012295.4:c.5959A>G, NM_012295.3:c.5959A>G, NM_001201429.2:c.5809A>G, NM_001201429.1:c.5809A>G, NM_001199281.1:c.5959A>G, XM_005261415.4:c.6064A>G, XM_005261415.3:c.6064A>G, XM_005261415.2:c.6064A>G, XM_005261415.1:c.6064A>G, XM_005261416.4:c.6049A>G, XM_005261416.3:c.6049A>G, XM_005261416.2:c.6049A>G, XM_005261416.1:c.6049A>G, XM_005261417.4:c.5974A>G, XM_005261417.3:c.5974A>G, XM_005261417.2:c.5974A>G, XM_005261417.1:c.5974A>G, XM_006724179.3:c.6064A>G, XM_006724179.2:c.6064A>G, XM_006724179.1:c.6064A>G, XM_017028680.3:c.6049A>G, XM_017028680.2:c.6049A>G, XM_017028680.1:c.6049A>G, XM_017028681.3:c.5914A>G, XM_017028681.2:c.5914A>G, XM_017028681.1:c.5914A>G, XM_006724180.3:c.5887A>G, XM_006724180.2:c.5887A>G, XM_006724180.1:c.5887A>G, XM_006724181.3:c.5959A>G, XM_006724181.2:c.5959A>G, XM_006724181.1:c.5959A>G, XM_011530026.3:c.5869A>G, XM_011530026.2:c.5869A>G, XM_011530026.1:c.5869A>G, XM_017028683.3:c.5722A>G, XM_017028683.2:c.5722A>G, XM_017028683.1:c.5722A>G, XM_005261419.3:c.5929A>G, XM_005261419.2:c.5929A>G, XM_005261419.1:c.5929A>G, XM_024452186.2:c.5929A>G, XM_024452186.1:c.5929A>G, XM_024452187.2:c.5809A>G, XM_024452187.1:c.5809A>G, XM_024452184.2:c.6064A>G, XM_024452184.1:c.6064A>G, XM_047441223.1:c.5872A>G, XM_047441228.1:c.5839A>G, XM_047441218.1:c.5974A>G, XM_047441233.1:c.5824A>G, XM_047441230.1:c.5824A>G, XM_047441219.1:c.5959A>G, XM_047441235.1:c.5899A>G, XM_047441237.1:c.5779A>G, XM_047441239.1:c.5764A>G, XM_047441242.1:c.5824A>G, XM_047441241.1:c.5737A>G, XM_047441226.1:c.5959A>G, XM_047441245.1:c.5809A>G, XM_047441232.1:c.5824A>G, XM_047441217.1:c.5974A>G, XM_047441247.1:c.5629A>G, XM_047441220.1:c.5914A>G, XM_047441222.1:c.5887A>G, XM_047441221.1:c.5974A>G, XM_047441225.1:c.5872A>G, XM_047441224.1:c.5959A>G, XM_047441227.1:c.5869A>G, XM_047441229.1:c.5839A>G, XM_047441234.1:c.5824A>G, XM_047441231.1:c.5824A>G, XM_047441236.1:c.5872A>G, XM_047441238.1:c.5779A>G, XM_047441240.1:c.5764A>G, XM_047441244.1:c.5824A>G, XM_047441243.1:c.5737A>G, XM_047441246.1:c.5689A>G, NP_036427.1:p.Thr1987Ala, NP_001188358.1:p.Thr1937Ala, NP_001186210.1:p.Thr1987Ala, XP_005261472.1:p.Thr2022Ala, XP_005261473.1:p.Thr2017Ala, XP_005261474.1:p.Thr1992Ala, XP_006724242.1:p.Thr2022Ala, XP_016884169.1:p.Thr2017Ala, XP_016884170.1:p.Thr1972Ala, XP_006724243.1:p.Thr1963Ala, XP_006724244.1:p.Thr1987Ala, XP_011528328.1:p.Thr1957Ala, XP_016884172.1:p.Thr1908Ala, XP_005261476.1:p.Thr1977Ala, XP_024307954.1:p.Thr1977Ala, XP_024307955.1:p.Thr1937Ala, XP_024307952.1:p.Thr2022Ala, XP_047297179.1:p.Thr1958Ala, XP_047297184.1:p.Thr1947Ala, XP_047297174.1:p.Thr1992Ala, XP_047297189.1:p.Thr1942Ala, XP_047297186.1:p.Thr1942Ala, XP_047297175.1:p.Thr1987Ala, XP_047297191.1:p.Thr1967Ala, XP_047297193.1:p.Thr1927Ala, XP_047297195.1:p.Thr1922Ala, XP_047297198.1:p.Thr1942Ala, XP_047297197.1:p.Thr1913Ala, XP_047297182.1:p.Thr1987Ala, XP_047297201.1:p.Thr1937Ala, XP_047297188.1:p.Thr1942Ala, XP_047297173.1:p.Thr1992Ala, XP_047297203.1:p.Thr1877Ala, XP_047297176.1:p.Thr1972Ala, XP_047297178.1:p.Thr1963Ala, XP_047297177.1:p.Thr1992Ala, XP_047297181.1:p.Thr1958Ala, XP_047297180.1:p.Thr1987Ala, XP_047297183.1:p.Thr1957Ala, XP_047297185.1:p.Thr1947Ala, XP_047297190.1:p.Thr1942Ala, XP_047297187.1:p.Thr1942Ala, XP_047297192.1:p.Thr1958Ala, XP_047297194.1:p.Thr1927Ala, XP_047297196.1:p.Thr1922Ala, XP_047297200.1:p.Thr1942Ala, XP_047297199.1:p.Thr1913Ala, XP_047297202.1:p.Thr1897Ala

                                  17.

                                  rs1482968537 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:24168456 (GRCh38)
                                    22:24564424 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:24168455:G:A
                                    Gene:
                                    CABIN1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000011/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000022.11:g.24168456G>A, NC_000022.10:g.24564424G>A, NG_047136.1:g.162265G>A, NM_012295.4:c.5692G>A, NM_012295.3:c.5692G>A, NM_001201429.2:c.5542G>A, NM_001201429.1:c.5542G>A, NM_001199281.1:c.5692G>A, XM_005261415.4:c.5797G>A, XM_005261415.3:c.5797G>A, XM_005261415.2:c.5797G>A, XM_005261415.1:c.5797G>A, XM_005261416.4:c.5782G>A, XM_005261416.3:c.5782G>A, XM_005261416.2:c.5782G>A, XM_005261416.1:c.5782G>A, XM_005261417.4:c.5707G>A, XM_005261417.3:c.5707G>A, XM_005261417.2:c.5707G>A, XM_005261417.1:c.5707G>A, XM_006724179.3:c.5797G>A, XM_006724179.2:c.5797G>A, XM_006724179.1:c.5797G>A, XM_017028680.3:c.5782G>A, XM_017028680.2:c.5782G>A, XM_017028680.1:c.5782G>A, XM_017028681.3:c.5647G>A, XM_017028681.2:c.5647G>A, XM_017028681.1:c.5647G>A, XM_006724180.3:c.5620G>A, XM_006724180.2:c.5620G>A, XM_006724180.1:c.5620G>A, XM_006724181.3:c.5692G>A, XM_006724181.2:c.5692G>A, XM_006724181.1:c.5692G>A, XM_011530026.3:c.5602G>A, XM_011530026.2:c.5602G>A, XM_011530026.1:c.5602G>A, XM_017028683.3:c.5455G>A, XM_017028683.2:c.5455G>A, XM_017028683.1:c.5455G>A, XM_005261419.3:c.5662G>A, XM_005261419.2:c.5662G>A, XM_005261419.1:c.5662G>A, XM_024452186.2:c.5662G>A, XM_024452186.1:c.5662G>A, XM_024452187.2:c.5542G>A, XM_024452187.1:c.5542G>A, XM_024452184.2:c.5797G>A, XM_024452184.1:c.5797G>A, XM_047441223.1:c.5605G>A, XM_047441228.1:c.5572G>A, XM_047441218.1:c.5707G>A, XM_047441233.1:c.5557G>A, XM_047441230.1:c.5557G>A, XM_047441219.1:c.5692G>A, XM_047441235.1:c.5632G>A, XM_047441237.1:c.5512G>A, XM_047441239.1:c.5497G>A, XM_047441242.1:c.5557G>A, XM_047441241.1:c.5470G>A, XM_047441226.1:c.5692G>A, XM_047441245.1:c.5542G>A, XM_047441232.1:c.5557G>A, XM_047441217.1:c.5707G>A, XM_047441247.1:c.5362G>A, XM_047441220.1:c.5647G>A, XM_047441222.1:c.5620G>A, XM_047441221.1:c.5707G>A, XM_047441225.1:c.5605G>A, XM_047441224.1:c.5692G>A, XM_047441227.1:c.5602G>A, XM_047441229.1:c.5572G>A, XM_047441234.1:c.5557G>A, XM_047441231.1:c.5557G>A, XM_047441236.1:c.5605G>A, XM_047441238.1:c.5512G>A, XM_047441240.1:c.5497G>A, XM_047441244.1:c.5557G>A, XM_047441243.1:c.5470G>A, XM_047441246.1:c.5422G>A, NP_036427.1:p.Glu1898Lys, NP_001188358.1:p.Glu1848Lys, NP_001186210.1:p.Glu1898Lys, XP_005261472.1:p.Glu1933Lys, XP_005261473.1:p.Glu1928Lys, XP_005261474.1:p.Glu1903Lys, XP_006724242.1:p.Glu1933Lys, XP_016884169.1:p.Glu1928Lys, XP_016884170.1:p.Glu1883Lys, XP_006724243.1:p.Glu1874Lys, XP_006724244.1:p.Glu1898Lys, XP_011528328.1:p.Glu1868Lys, XP_016884172.1:p.Glu1819Lys, XP_005261476.1:p.Glu1888Lys, XP_024307954.1:p.Glu1888Lys, XP_024307955.1:p.Glu1848Lys, XP_024307952.1:p.Glu1933Lys, XP_047297179.1:p.Glu1869Lys, XP_047297184.1:p.Glu1858Lys, XP_047297174.1:p.Glu1903Lys, XP_047297189.1:p.Glu1853Lys, XP_047297186.1:p.Glu1853Lys, XP_047297175.1:p.Glu1898Lys, XP_047297191.1:p.Glu1878Lys, XP_047297193.1:p.Glu1838Lys, XP_047297195.1:p.Glu1833Lys, XP_047297198.1:p.Glu1853Lys, XP_047297197.1:p.Glu1824Lys, XP_047297182.1:p.Glu1898Lys, XP_047297201.1:p.Glu1848Lys, XP_047297188.1:p.Glu1853Lys, XP_047297173.1:p.Glu1903Lys, XP_047297203.1:p.Glu1788Lys, XP_047297176.1:p.Glu1883Lys, XP_047297178.1:p.Glu1874Lys, XP_047297177.1:p.Glu1903Lys, XP_047297181.1:p.Glu1869Lys, XP_047297180.1:p.Glu1898Lys, XP_047297183.1:p.Glu1868Lys, XP_047297185.1:p.Glu1858Lys, XP_047297190.1:p.Glu1853Lys, XP_047297187.1:p.Glu1853Lys, XP_047297192.1:p.Glu1869Lys, XP_047297194.1:p.Glu1838Lys, XP_047297196.1:p.Glu1833Lys, XP_047297200.1:p.Glu1853Lys, XP_047297199.1:p.Glu1824Lys, XP_047297202.1:p.Glu1808Lys

                                    18.

                                    rs1482442474 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      22:24076205 (GRCh38)
                                      22:24472154 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:24076204:T:C
                                      Gene:
                                      CABIN1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.24076205T>C, NC_000022.10:g.24472154T>C, NG_047136.1:g.70014T>C, NM_012295.4:c.2669T>C, NM_012295.3:c.2669T>C, NM_001201429.2:c.2519T>C, NM_001201429.1:c.2519T>C, NM_001199281.1:c.2669T>C, XM_005261415.4:c.2669T>C, XM_005261415.3:c.2669T>C, XM_005261415.2:c.2669T>C, XM_005261415.1:c.2669T>C, XM_005261416.4:c.2669T>C, XM_005261416.3:c.2669T>C, XM_005261416.2:c.2669T>C, XM_005261416.1:c.2669T>C, XM_005261417.4:c.2669T>C, XM_005261417.3:c.2669T>C, XM_005261417.2:c.2669T>C, XM_005261417.1:c.2669T>C, XM_006724179.3:c.2669T>C, XM_006724179.2:c.2669T>C, XM_006724179.1:c.2669T>C, XM_017028680.3:c.2669T>C, XM_017028680.2:c.2669T>C, XM_017028680.1:c.2669T>C, XM_017028681.3:c.2519T>C, XM_017028681.2:c.2519T>C, XM_017028681.1:c.2519T>C, XM_006724180.3:c.2669T>C, XM_006724180.2:c.2669T>C, XM_006724180.1:c.2669T>C, XM_006724181.3:c.2669T>C, XM_006724181.2:c.2669T>C, XM_006724181.1:c.2669T>C, XM_011530026.3:c.2474T>C, XM_011530026.2:c.2474T>C, XM_011530026.1:c.2474T>C, XM_017028683.3:c.2519T>C, XM_017028683.2:c.2519T>C, XM_017028683.1:c.2519T>C, XM_005261419.3:c.2534T>C, XM_005261419.2:c.2534T>C, XM_005261419.1:c.2534T>C, XM_024452186.2:c.2534T>C, XM_024452186.1:c.2534T>C, XM_024452187.2:c.2519T>C, XM_024452187.1:c.2519T>C, XM_024452184.2:c.2669T>C, XM_024452184.1:c.2669T>C, XM_047441223.1:c.2669T>C, XM_047441228.1:c.2534T>C, XM_047441218.1:c.2669T>C, XM_047441233.1:c.2519T>C, XM_047441230.1:c.2534T>C, XM_047441219.1:c.2669T>C, XM_047441235.1:c.2519T>C, XM_047441237.1:c.2474T>C, XM_047441239.1:c.2474T>C, XM_047441242.1:c.2534T>C, XM_047441241.1:c.2534T>C, XM_047441226.1:c.2669T>C, XM_047441245.1:c.2519T>C, XM_047441232.1:c.2534T>C, XM_047441217.1:c.2669T>C, XM_047441247.1:c.2339T>C, XM_047441220.1:c.2519T>C, XM_047441222.1:c.2669T>C, XM_047441221.1:c.2669T>C, XM_047441225.1:c.2669T>C, XM_047441224.1:c.2669T>C, XM_047441227.1:c.2474T>C, XM_047441229.1:c.2534T>C, XM_047441234.1:c.2519T>C, XM_047441231.1:c.2534T>C, XM_047441236.1:c.2669T>C, XM_047441238.1:c.2474T>C, XM_047441240.1:c.2474T>C, XM_047441244.1:c.2534T>C, XM_047441243.1:c.2534T>C, XM_047441246.1:c.2384T>C, XM_047441248.1:c.2669T>C, XM_047441249.1:c.2534T>C, NP_036427.1:p.Met890Thr, NP_001188358.1:p.Met840Thr, NP_001186210.1:p.Met890Thr, XP_005261472.1:p.Met890Thr, XP_005261473.1:p.Met890Thr, XP_005261474.1:p.Met890Thr, XP_006724242.1:p.Met890Thr, XP_016884169.1:p.Met890Thr, XP_016884170.1:p.Met840Thr, XP_006724243.1:p.Met890Thr, XP_006724244.1:p.Met890Thr, XP_011528328.1:p.Met825Thr, XP_016884172.1:p.Met840Thr, XP_005261476.1:p.Met845Thr, XP_024307954.1:p.Met845Thr, XP_024307955.1:p.Met840Thr, XP_024307952.1:p.Met890Thr, XP_047297179.1:p.Met890Thr, XP_047297184.1:p.Met845Thr, XP_047297174.1:p.Met890Thr, XP_047297189.1:p.Met840Thr, XP_047297186.1:p.Met845Thr, XP_047297175.1:p.Met890Thr, XP_047297191.1:p.Met840Thr, XP_047297193.1:p.Met825Thr, XP_047297195.1:p.Met825Thr, XP_047297198.1:p.Met845Thr, XP_047297197.1:p.Met845Thr, XP_047297182.1:p.Met890Thr, XP_047297201.1:p.Met840Thr, XP_047297188.1:p.Met845Thr, XP_047297173.1:p.Met890Thr, XP_047297203.1:p.Met780Thr, XP_047297176.1:p.Met840Thr, XP_047297178.1:p.Met890Thr, XP_047297177.1:p.Met890Thr, XP_047297181.1:p.Met890Thr, XP_047297180.1:p.Met890Thr, XP_047297183.1:p.Met825Thr, XP_047297185.1:p.Met845Thr, XP_047297190.1:p.Met840Thr, XP_047297187.1:p.Met845Thr, XP_047297192.1:p.Met890Thr, XP_047297194.1:p.Met825Thr, XP_047297196.1:p.Met825Thr, XP_047297200.1:p.Met845Thr, XP_047297199.1:p.Met845Thr, XP_047297202.1:p.Met795Thr, XP_047297204.1:p.Met890Thr, XP_047297205.1:p.Met845Thr

                                      19.

                                      rs1482088073 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        22:24063033 (GRCh38)
                                        22:24459496 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:24063032:G:A
                                        Gene:
                                        CABIN1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000022.11:g.24063033G>A, NC_000022.10:g.24459496G>A, NG_047136.1:g.56842G>A, NM_012295.4:c.1771G>A, NM_012295.3:c.1771G>A, NM_001201429.2:c.1621G>A, NM_001201429.1:c.1621G>A, NM_001199281.1:c.1771G>A, XM_005261415.4:c.1771G>A, XM_005261415.3:c.1771G>A, XM_005261415.2:c.1771G>A, XM_005261415.1:c.1771G>A, XM_005261416.4:c.1771G>A, XM_005261416.3:c.1771G>A, XM_005261416.2:c.1771G>A, XM_005261416.1:c.1771G>A, XM_005261417.4:c.1771G>A, XM_005261417.3:c.1771G>A, XM_005261417.2:c.1771G>A, XM_005261417.1:c.1771G>A, XM_006724179.3:c.1771G>A, XM_006724179.2:c.1771G>A, XM_006724179.1:c.1771G>A, XM_017028680.3:c.1771G>A, XM_017028680.2:c.1771G>A, XM_017028680.1:c.1771G>A, XM_017028681.3:c.1621G>A, XM_017028681.2:c.1621G>A, XM_017028681.1:c.1621G>A, XM_006724180.3:c.1771G>A, XM_006724180.2:c.1771G>A, XM_006724180.1:c.1771G>A, XM_006724181.3:c.1771G>A, XM_006724181.2:c.1771G>A, XM_006724181.1:c.1771G>A, XM_011530026.3:c.1771G>A, XM_011530026.2:c.1771G>A, XM_011530026.1:c.1771G>A, XM_017028683.3:c.1621G>A, XM_017028683.2:c.1621G>A, XM_017028683.1:c.1621G>A, XM_005261419.3:c.1636G>A, XM_005261419.2:c.1636G>A, XM_005261419.1:c.1636G>A, XM_024452186.2:c.1636G>A, XM_024452186.1:c.1636G>A, XM_024452187.2:c.1621G>A, XM_024452187.1:c.1621G>A, XM_024452184.2:c.1771G>A, XM_024452184.1:c.1771G>A, XM_047441223.1:c.1771G>A, XM_047441228.1:c.1636G>A, XM_047441218.1:c.1771G>A, XM_047441233.1:c.1621G>A, XM_047441230.1:c.1636G>A, XM_047441219.1:c.1771G>A, XM_047441235.1:c.1621G>A, XM_047441237.1:c.1771G>A, XM_047441239.1:c.1771G>A, XM_047441242.1:c.1636G>A, XM_047441241.1:c.1636G>A, XM_047441226.1:c.1771G>A, XM_047441245.1:c.1621G>A, XM_047441232.1:c.1636G>A, XM_047441217.1:c.1771G>A, XM_047441247.1:c.1636G>A, XM_047441220.1:c.1621G>A, XM_047441222.1:c.1771G>A, XM_047441221.1:c.1771G>A, XM_047441225.1:c.1771G>A, XM_047441224.1:c.1771G>A, XM_047441227.1:c.1771G>A, XM_047441229.1:c.1636G>A, XM_047441234.1:c.1621G>A, XM_047441231.1:c.1636G>A, XM_047441236.1:c.1771G>A, XM_047441238.1:c.1771G>A, XM_047441240.1:c.1771G>A, XM_047441244.1:c.1636G>A, XM_047441243.1:c.1636G>A, XM_047441246.1:c.1486G>A, XM_047441248.1:c.1771G>A, XM_047441249.1:c.1636G>A, NP_036427.1:p.Gly591Ser, NP_001188358.1:p.Gly541Ser, NP_001186210.1:p.Gly591Ser, XP_005261472.1:p.Gly591Ser, XP_005261473.1:p.Gly591Ser, XP_005261474.1:p.Gly591Ser, XP_006724242.1:p.Gly591Ser, XP_016884169.1:p.Gly591Ser, XP_016884170.1:p.Gly541Ser, XP_006724243.1:p.Gly591Ser, XP_006724244.1:p.Gly591Ser, XP_011528328.1:p.Gly591Ser, XP_016884172.1:p.Gly541Ser, XP_005261476.1:p.Gly546Ser, XP_024307954.1:p.Gly546Ser, XP_024307955.1:p.Gly541Ser, XP_024307952.1:p.Gly591Ser, XP_047297179.1:p.Gly591Ser, XP_047297184.1:p.Gly546Ser, XP_047297174.1:p.Gly591Ser, XP_047297189.1:p.Gly541Ser, XP_047297186.1:p.Gly546Ser, XP_047297175.1:p.Gly591Ser, XP_047297191.1:p.Gly541Ser, XP_047297193.1:p.Gly591Ser, XP_047297195.1:p.Gly591Ser, XP_047297198.1:p.Gly546Ser, XP_047297197.1:p.Gly546Ser, XP_047297182.1:p.Gly591Ser, XP_047297201.1:p.Gly541Ser, XP_047297188.1:p.Gly546Ser, XP_047297173.1:p.Gly591Ser, XP_047297203.1:p.Gly546Ser, XP_047297176.1:p.Gly541Ser, XP_047297178.1:p.Gly591Ser, XP_047297177.1:p.Gly591Ser, XP_047297181.1:p.Gly591Ser, XP_047297180.1:p.Gly591Ser, XP_047297183.1:p.Gly591Ser, XP_047297185.1:p.Gly546Ser, XP_047297190.1:p.Gly541Ser, XP_047297187.1:p.Gly546Ser, XP_047297192.1:p.Gly591Ser, XP_047297194.1:p.Gly591Ser, XP_047297196.1:p.Gly591Ser, XP_047297200.1:p.Gly546Ser, XP_047297199.1:p.Gly546Ser, XP_047297202.1:p.Gly496Ser, XP_047297204.1:p.Gly591Ser, XP_047297205.1:p.Gly546Ser

                                        20.

                                        rs1481530226 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:24072375 (GRCh38)
                                          22:24468325 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:24072374:G:A
                                          Gene:
                                          CABIN1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.24072375G>A, NC_000022.10:g.24468325G>A, NG_047136.1:g.66184G>A, NM_012295.4:c.2497G>A, NM_012295.3:c.2497G>A, NM_001201429.2:c.2347G>A, NM_001201429.1:c.2347G>A, NM_001199281.1:c.2497G>A, XM_005261415.4:c.2497G>A, XM_005261415.3:c.2497G>A, XM_005261415.2:c.2497G>A, XM_005261415.1:c.2497G>A, XM_005261416.4:c.2497G>A, XM_005261416.3:c.2497G>A, XM_005261416.2:c.2497G>A, XM_005261416.1:c.2497G>A, XM_005261417.4:c.2497G>A, XM_005261417.3:c.2497G>A, XM_005261417.2:c.2497G>A, XM_005261417.1:c.2497G>A, XM_006724179.3:c.2497G>A, XM_006724179.2:c.2497G>A, XM_006724179.1:c.2497G>A, XM_017028680.3:c.2497G>A, XM_017028680.2:c.2497G>A, XM_017028680.1:c.2497G>A, XM_017028681.3:c.2347G>A, XM_017028681.2:c.2347G>A, XM_017028681.1:c.2347G>A, XM_006724180.3:c.2497G>A, XM_006724180.2:c.2497G>A, XM_006724180.1:c.2497G>A, XM_006724181.3:c.2497G>A, XM_006724181.2:c.2497G>A, XM_006724181.1:c.2497G>A, XM_011530026.3:c.2302G>A, XM_011530026.2:c.2302G>A, XM_011530026.1:c.2302G>A, XM_017028683.3:c.2347G>A, XM_017028683.2:c.2347G>A, XM_017028683.1:c.2347G>A, XM_005261419.3:c.2362G>A, XM_005261419.2:c.2362G>A, XM_005261419.1:c.2362G>A, XM_024452186.2:c.2362G>A, XM_024452186.1:c.2362G>A, XM_024452187.2:c.2347G>A, XM_024452187.1:c.2347G>A, XM_024452184.2:c.2497G>A, XM_024452184.1:c.2497G>A, XM_047441223.1:c.2497G>A, XM_047441228.1:c.2362G>A, XM_047441218.1:c.2497G>A, XM_047441233.1:c.2347G>A, XM_047441230.1:c.2362G>A, XM_047441219.1:c.2497G>A, XM_047441235.1:c.2347G>A, XM_047441237.1:c.2302G>A, XM_047441239.1:c.2302G>A, XM_047441242.1:c.2362G>A, XM_047441241.1:c.2362G>A, XM_047441226.1:c.2497G>A, XM_047441245.1:c.2347G>A, XM_047441232.1:c.2362G>A, XM_047441217.1:c.2497G>A, XM_047441247.1:c.2167G>A, XM_047441220.1:c.2347G>A, XM_047441222.1:c.2497G>A, XM_047441221.1:c.2497G>A, XM_047441225.1:c.2497G>A, XM_047441224.1:c.2497G>A, XM_047441227.1:c.2302G>A, XM_047441229.1:c.2362G>A, XM_047441234.1:c.2347G>A, XM_047441231.1:c.2362G>A, XM_047441236.1:c.2497G>A, XM_047441238.1:c.2302G>A, XM_047441240.1:c.2302G>A, XM_047441244.1:c.2362G>A, XM_047441243.1:c.2362G>A, XM_047441246.1:c.2212G>A, XM_047441248.1:c.2497G>A, XM_047441249.1:c.2362G>A, NP_036427.1:p.Val833Met, NP_001188358.1:p.Val783Met, NP_001186210.1:p.Val833Met, XP_005261472.1:p.Val833Met, XP_005261473.1:p.Val833Met, XP_005261474.1:p.Val833Met, XP_006724242.1:p.Val833Met, XP_016884169.1:p.Val833Met, XP_016884170.1:p.Val783Met, XP_006724243.1:p.Val833Met, XP_006724244.1:p.Val833Met, XP_011528328.1:p.Val768Met, XP_016884172.1:p.Val783Met, XP_005261476.1:p.Val788Met, XP_024307954.1:p.Val788Met, XP_024307955.1:p.Val783Met, XP_024307952.1:p.Val833Met, XP_047297179.1:p.Val833Met, XP_047297184.1:p.Val788Met, XP_047297174.1:p.Val833Met, XP_047297189.1:p.Val783Met, XP_047297186.1:p.Val788Met, XP_047297175.1:p.Val833Met, XP_047297191.1:p.Val783Met, XP_047297193.1:p.Val768Met, XP_047297195.1:p.Val768Met, XP_047297198.1:p.Val788Met, XP_047297197.1:p.Val788Met, XP_047297182.1:p.Val833Met, XP_047297201.1:p.Val783Met, XP_047297188.1:p.Val788Met, XP_047297173.1:p.Val833Met, XP_047297203.1:p.Val723Met, XP_047297176.1:p.Val783Met, XP_047297178.1:p.Val833Met, XP_047297177.1:p.Val833Met, XP_047297181.1:p.Val833Met, XP_047297180.1:p.Val833Met, XP_047297183.1:p.Val768Met, XP_047297185.1:p.Val788Met, XP_047297190.1:p.Val783Met, XP_047297187.1:p.Val788Met, XP_047297192.1:p.Val833Met, XP_047297194.1:p.Val768Met, XP_047297196.1:p.Val768Met, XP_047297200.1:p.Val788Met, XP_047297199.1:p.Val788Met, XP_047297202.1:p.Val738Met, XP_047297204.1:p.Val833Met, XP_047297205.1:p.Val788Met

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