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Items: 1 to 20 of 510

1.

rs1489935396 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    6:108868921 (GRCh38)
    6:109190124 (GRCh37)
    Canonical SPDI:
    NC_000006.12:108868920:A:C,NC_000006.12:108868920:A:G
    Gene:
    ARMC2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    HGVS:
    NC_000006.12:g.108868921A>C, NC_000006.12:g.108868921A>G, NC_000006.11:g.109190124A>C, NC_000006.11:g.109190124A>G, NM_032131.6:c.389A>C, NM_032131.6:c.389A>G, NM_032131.5:c.389A>C, NM_032131.5:c.389A>G, NM_032131.4:c.389A>C, NM_032131.4:c.389A>G, XM_005267154.5:c.389A>C, XM_005267154.5:c.389A>G, XM_005267154.4:c.389A>C, XM_005267154.4:c.389A>G, XM_005267154.3:c.389A>C, XM_005267154.3:c.389A>G, XM_005267154.2:c.389A>C, XM_005267154.2:c.389A>G, XM_005267154.1:c.389A>C, XM_005267154.1:c.389A>G, XM_011536168.4:c.389A>C, XM_011536168.4:c.389A>G, XM_011536168.3:c.389A>C, XM_011536168.3:c.389A>G, XM_011536168.2:c.389A>C, XM_011536168.2:c.389A>G, XM_011536168.1:c.389A>C, XM_011536168.1:c.389A>G, XR_942601.3:n.557A>C, XR_942601.3:n.557A>G, XR_942601.2:n.557A>C, XR_942601.2:n.557A>G, XR_942601.1:n.557A>C, XR_942601.1:n.557A>G, XM_006715573.3:c.389A>C, XM_006715573.3:c.389A>G, XM_006715573.2:c.389A>C, XM_006715573.2:c.389A>G, XM_006715573.1:c.389A>C, XM_006715573.1:c.389A>G, XM_005267155.3:c.389A>C, XM_005267155.3:c.389A>G, XM_005267155.2:c.389A>C, XM_005267155.2:c.389A>G, XM_005267155.1:c.389A>C, XM_005267155.1:c.389A>G, XM_011536170.3:c.389A>C, XM_011536170.3:c.389A>G, XM_011536170.2:c.389A>C, XM_011536170.2:c.389A>G, XM_011536170.1:c.389A>C, XM_011536170.1:c.389A>G, XM_011536176.3:c.389A>C, XM_011536176.3:c.389A>G, XM_011536176.2:c.389A>C, XM_011536176.2:c.389A>G, XM_011536176.1:c.389A>C, XM_011536176.1:c.389A>G, XM_011536166.2:c.389A>C, XM_011536166.2:c.389A>G, XM_011536166.1:c.389A>C, XM_011536166.1:c.389A>G, NM_001286609.2:c.-107A>C, NM_001286609.2:c.-107A>G, NM_001286609.1:c.-107A>C, NM_001286609.1:c.-107A>G, XM_011536167.2:c.389A>C, XM_011536167.2:c.389A>G, XM_011536167.1:c.389A>C, XM_011536167.1:c.389A>G, XM_017011351.2:c.389A>C, XM_017011351.2:c.389A>G, XM_017011351.1:c.389A>C, XM_017011351.1:c.389A>G, XR_007059341.1:n.557A>C, XR_007059341.1:n.557A>G, XM_047419396.1:c.389A>C, XM_047419396.1:c.389A>G, XR_007059340.1:n.557A>C, XR_007059340.1:n.557A>G, XR_942600.1:n.557A>C, XR_942600.1:n.557A>G, NP_115507.4:p.Asn130Thr, NP_115507.4:p.Asn130Ser, XP_005267211.1:p.Asn130Thr, XP_005267211.1:p.Asn130Ser, XP_011534470.1:p.Asn130Thr, XP_011534470.1:p.Asn130Ser, XP_006715636.1:p.Asn130Thr, XP_006715636.1:p.Asn130Ser, XP_005267212.1:p.Asn130Thr, XP_005267212.1:p.Asn130Ser, XP_011534472.1:p.Asn130Thr, XP_011534472.1:p.Asn130Ser, XP_011534478.1:p.Asn130Thr, XP_011534478.1:p.Asn130Ser, XP_011534468.1:p.Asn130Thr, XP_011534468.1:p.Asn130Ser, XP_011534469.1:p.Asn130Thr, XP_011534469.1:p.Asn130Ser, XP_016866840.1:p.Asn130Thr, XP_016866840.1:p.Asn130Ser, XP_047275352.1:p.Asn130Thr, XP_047275352.1:p.Asn130Ser

    2.

    rs1489796834 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      6:108854294 (GRCh38)
      6:109175497 (GRCh37)
      Canonical SPDI:
      NC_000006.12:108854293:A:T
      Gene:
      ARMC2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000006.12:g.108854294A>T, NC_000006.11:g.109175497A>T, NM_032131.6:c.27A>T, NM_032131.5:c.27A>T, NM_032131.4:c.27A>T, XM_005267154.5:c.27A>T, XM_005267154.4:c.27A>T, XM_005267154.3:c.27A>T, XM_005267154.2:c.27A>T, XM_005267154.1:c.27A>T, XM_011536168.4:c.27A>T, XM_011536168.3:c.27A>T, XM_011536168.2:c.27A>T, XM_011536168.1:c.27A>T, XR_942601.3:n.195A>T, XR_942601.2:n.195A>T, XR_942601.1:n.195A>T, XM_006715573.3:c.27A>T, XM_006715573.2:c.27A>T, XM_006715573.1:c.27A>T, XM_005267155.3:c.27A>T, XM_005267155.2:c.27A>T, XM_005267155.1:c.27A>T, XM_011536170.3:c.27A>T, XM_011536170.2:c.27A>T, XM_011536170.1:c.27A>T, XM_011536176.3:c.27A>T, XM_011536176.2:c.27A>T, XM_011536176.1:c.27A>T, XM_011536166.2:c.27A>T, XM_011536166.1:c.27A>T, NM_001286609.2:c.-396A>T, NM_001286609.1:c.-396A>T, XM_011536167.2:c.27A>T, XM_011536167.1:c.27A>T, XM_017011351.2:c.27A>T, XM_017011351.1:c.27A>T, XR_007059341.1:n.195A>T, XM_047419396.1:c.27A>T, XR_007059340.1:n.195A>T, XR_942600.1:n.195A>T, NP_115507.4:p.Leu9Phe, XP_005267211.1:p.Leu9Phe, XP_011534470.1:p.Leu9Phe, XP_006715636.1:p.Leu9Phe, XP_005267212.1:p.Leu9Phe, XP_011534472.1:p.Leu9Phe, XP_011534478.1:p.Leu9Phe, XP_011534468.1:p.Leu9Phe, XP_011534469.1:p.Leu9Phe, XP_016866840.1:p.Leu9Phe, XP_047275352.1:p.Leu9Phe

      3.

      rs1486765536 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:108858207 (GRCh38)
        6:109179410 (GRCh37)
        Canonical SPDI:
        NC_000006.12:108858206:C:T
        Gene:
        ARMC2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000006.12:g.108858207C>T, NC_000006.11:g.109179410C>T, NM_032131.6:c.227C>T, NM_032131.5:c.227C>T, NM_032131.4:c.227C>T, XM_005267154.5:c.227C>T, XM_005267154.4:c.227C>T, XM_005267154.3:c.227C>T, XM_005267154.2:c.227C>T, XM_005267154.1:c.227C>T, XM_011536168.4:c.227C>T, XM_011536168.3:c.227C>T, XM_011536168.2:c.227C>T, XM_011536168.1:c.227C>T, XR_942601.3:n.395C>T, XR_942601.2:n.395C>T, XR_942601.1:n.395C>T, XM_006715573.3:c.227C>T, XM_006715573.2:c.227C>T, XM_006715573.1:c.227C>T, XM_005267155.3:c.227C>T, XM_005267155.2:c.227C>T, XM_005267155.1:c.227C>T, XM_011536170.3:c.227C>T, XM_011536170.2:c.227C>T, XM_011536170.1:c.227C>T, XM_006715574.3:c.-97C>T, XM_006715574.2:c.-97C>T, XM_011536176.3:c.227C>T, XM_011536176.2:c.227C>T, XM_011536176.1:c.227C>T, XM_011536166.2:c.227C>T, XM_011536166.1:c.227C>T, XM_011536167.2:c.227C>T, XM_011536167.1:c.227C>T, XM_017011351.2:c.227C>T, XM_017011351.1:c.227C>T, XR_007059341.1:n.395C>T, XM_047419396.1:c.227C>T, XR_007059340.1:n.395C>T, XR_942600.1:n.395C>T, NP_115507.4:p.Ala76Val, XP_005267211.1:p.Ala76Val, XP_011534470.1:p.Ala76Val, XP_006715636.1:p.Ala76Val, XP_005267212.1:p.Ala76Val, XP_011534472.1:p.Ala76Val, XP_011534478.1:p.Ala76Val, XP_011534468.1:p.Ala76Val, XP_011534469.1:p.Ala76Val, XP_016866840.1:p.Ala76Val, XP_047275352.1:p.Ala76Val

        4.

        rs1485915781 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:108936996 (GRCh38)
          6:109258199 (GRCh37)
          Canonical SPDI:
          NC_000006.12:108936995:G:A
          Gene:
          ARMC2 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000006.12:g.108936996G>A, NC_000006.11:g.109258199G>A, NM_032131.6:c.1593G>A, NM_032131.5:c.1593G>A, NM_032131.4:c.1593G>A, XM_005267154.5:c.1593G>A, XM_005267154.4:c.1593G>A, XM_005267154.3:c.1593G>A, XM_005267154.2:c.1593G>A, XM_005267154.1:c.1593G>A, XM_011536168.4:c.1593G>A, XM_011536168.3:c.1593G>A, XM_011536168.2:c.1593G>A, XM_011536168.1:c.1593G>A, XM_006715573.3:c.1593G>A, XM_006715573.2:c.1593G>A, XM_006715573.1:c.1593G>A, XM_005267155.3:c.1593G>A, XM_005267155.2:c.1593G>A, XM_005267155.1:c.1593G>A, XM_011536170.3:c.1593G>A, XM_011536170.2:c.1593G>A, XM_011536170.1:c.1593G>A, XM_011536172.3:c.1098G>A, XM_011536172.2:c.1098G>A, XM_011536172.1:c.1098G>A, XM_006715574.3:c.1098G>A, XM_006715574.2:c.1098G>A, XM_006715574.1:c.1098G>A, XM_011536166.2:c.1593G>A, XM_011536166.1:c.1593G>A, NM_001286609.2:c.1098G>A, NM_001286609.1:c.1098G>A, XM_011536167.2:c.1593G>A, XM_011536167.1:c.1593G>A, XM_017011351.2:c.1593G>A, XM_017011351.1:c.1593G>A, XR_007059341.1:n.1761G>A, XM_047419396.1:c.1593G>A, XR_007059340.1:n.1761G>A, XM_047419397.1:c.852G>A

          5.

          rs1485030008 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:108854355 (GRCh38)
            6:109175558 (GRCh37)
            Canonical SPDI:
            NC_000006.12:108854354:A:G
            Gene:
            ARMC2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.108854355A>G, NC_000006.11:g.109175558A>G, NM_032131.6:c.88A>G, NM_032131.5:c.88A>G, NM_032131.4:c.88A>G, XM_005267154.5:c.88A>G, XM_005267154.4:c.88A>G, XM_005267154.3:c.88A>G, XM_005267154.2:c.88A>G, XM_005267154.1:c.88A>G, XM_011536168.4:c.88A>G, XM_011536168.3:c.88A>G, XM_011536168.2:c.88A>G, XM_011536168.1:c.88A>G, XR_942601.3:n.256A>G, XR_942601.2:n.256A>G, XR_942601.1:n.256A>G, XM_006715573.3:c.88A>G, XM_006715573.2:c.88A>G, XM_006715573.1:c.88A>G, XM_005267155.3:c.88A>G, XM_005267155.2:c.88A>G, XM_005267155.1:c.88A>G, XM_011536170.3:c.88A>G, XM_011536170.2:c.88A>G, XM_011536170.1:c.88A>G, XM_011536176.3:c.88A>G, XM_011536176.2:c.88A>G, XM_011536176.1:c.88A>G, XM_011536166.2:c.88A>G, XM_011536166.1:c.88A>G, NM_001286609.2:c.-335A>G, NM_001286609.1:c.-335A>G, XM_011536167.2:c.88A>G, XM_011536167.1:c.88A>G, XM_017011351.2:c.88A>G, XM_017011351.1:c.88A>G, XR_007059341.1:n.256A>G, XM_047419396.1:c.88A>G, XR_007059340.1:n.256A>G, XR_942600.1:n.256A>G, NP_115507.4:p.Ile30Val, XP_005267211.1:p.Ile30Val, XP_011534470.1:p.Ile30Val, XP_006715636.1:p.Ile30Val, XP_005267212.1:p.Ile30Val, XP_011534472.1:p.Ile30Val, XP_011534478.1:p.Ile30Val, XP_011534468.1:p.Ile30Val, XP_011534469.1:p.Ile30Val, XP_016866840.1:p.Ile30Val, XP_047275352.1:p.Ile30Val

            6.

            rs1484675585 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:108854345 (GRCh38)
              6:109175548 (GRCh37)
              Canonical SPDI:
              NC_000006.12:108854344:T:C
              Gene:
              ARMC2 (Varview)
              Functional Consequence:
              coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000111/1 (ALFA)
              C=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.108854345T>C, NC_000006.11:g.109175548T>C, NM_032131.6:c.78T>C, NM_032131.5:c.78T>C, NM_032131.4:c.78T>C, XM_005267154.5:c.78T>C, XM_005267154.4:c.78T>C, XM_005267154.3:c.78T>C, XM_005267154.2:c.78T>C, XM_005267154.1:c.78T>C, XM_011536168.4:c.78T>C, XM_011536168.3:c.78T>C, XM_011536168.2:c.78T>C, XM_011536168.1:c.78T>C, XR_942601.3:n.246T>C, XR_942601.2:n.246T>C, XR_942601.1:n.246T>C, XM_006715573.3:c.78T>C, XM_006715573.2:c.78T>C, XM_006715573.1:c.78T>C, XM_005267155.3:c.78T>C, XM_005267155.2:c.78T>C, XM_005267155.1:c.78T>C, XM_011536170.3:c.78T>C, XM_011536170.2:c.78T>C, XM_011536170.1:c.78T>C, XM_011536176.3:c.78T>C, XM_011536176.2:c.78T>C, XM_011536176.1:c.78T>C, XM_011536166.2:c.78T>C, XM_011536166.1:c.78T>C, NM_001286609.2:c.-345T>C, NM_001286609.1:c.-345T>C, XM_011536167.2:c.78T>C, XM_011536167.1:c.78T>C, XM_017011351.2:c.78T>C, XM_017011351.1:c.78T>C, XR_007059341.1:n.246T>C, XM_047419396.1:c.78T>C, XR_007059340.1:n.246T>C, XR_942600.1:n.246T>C

              7.

              rs1480131801 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                6:108876308 (GRCh38)
                6:109197511 (GRCh37)
                Canonical SPDI:
                NC_000006.12:108876307:T:A
                Gene:
                ARMC2 (Varview), LOC124901373 (Varview)
                Functional Consequence:
                coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000006.12:g.108876308T>A, NC_000006.11:g.109197511T>A, NM_032131.6:c.629T>A, NM_032131.5:c.629T>A, NM_032131.4:c.629T>A, XM_005267154.5:c.629T>A, XM_005267154.4:c.629T>A, XM_005267154.3:c.629T>A, XM_005267154.2:c.629T>A, XM_005267154.1:c.629T>A, XM_011536168.4:c.629T>A, XM_011536168.3:c.629T>A, XM_011536168.2:c.629T>A, XM_011536168.1:c.629T>A, XR_942601.3:n.797T>A, XR_942601.2:n.797T>A, XR_942601.1:n.797T>A, XM_006715573.3:c.629T>A, XM_006715573.2:c.629T>A, XM_006715573.1:c.629T>A, XM_005267155.3:c.629T>A, XM_005267155.2:c.629T>A, XM_005267155.1:c.629T>A, XM_011536170.3:c.629T>A, XM_011536170.2:c.629T>A, XM_011536170.1:c.629T>A, XM_011536172.3:c.134T>A, XM_011536172.2:c.134T>A, XM_011536172.1:c.134T>A, XM_006715574.3:c.134T>A, XM_006715574.2:c.134T>A, XM_006715574.1:c.134T>A, XM_011536176.3:c.629T>A, XM_011536176.2:c.629T>A, XM_011536176.1:c.629T>A, XM_011536166.2:c.629T>A, XM_011536166.1:c.629T>A, NM_001286609.2:c.134T>A, NM_001286609.1:c.134T>A, XM_011536167.2:c.629T>A, XM_011536167.1:c.629T>A, XM_017011351.2:c.629T>A, XM_017011351.1:c.629T>A, XR_007059341.1:n.797T>A, XM_047419396.1:c.629T>A, XR_007059340.1:n.797T>A, XM_047419397.1:c.-36T>A, XR_942600.1:n.797T>A, NP_115507.4:p.Phe210Tyr, XP_005267211.1:p.Phe210Tyr, XP_011534470.1:p.Phe210Tyr, XP_006715636.1:p.Phe210Tyr, XP_005267212.1:p.Phe210Tyr, XP_011534472.1:p.Phe210Tyr, XP_011534474.1:p.Phe45Tyr, XP_006715637.1:p.Phe45Tyr, XP_011534478.1:p.Phe210Tyr, XP_011534468.1:p.Phe210Tyr, NP_001273538.1:p.Phe45Tyr, XP_011534469.1:p.Phe210Tyr, XP_016866840.1:p.Phe210Tyr, XP_047275352.1:p.Phe210Tyr

                8.

                rs1478990950 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:108876178 (GRCh38)
                  6:109197381 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:108876177:A:G
                  Gene:
                  ARMC2 (Varview), LOC124901373 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000006.12:g.108876178A>G, NC_000006.11:g.109197381A>G, NM_032131.6:c.499A>G, NM_032131.5:c.499A>G, NM_032131.4:c.499A>G, XM_005267154.5:c.499A>G, XM_005267154.4:c.499A>G, XM_005267154.3:c.499A>G, XM_005267154.2:c.499A>G, XM_005267154.1:c.499A>G, XM_011536168.4:c.499A>G, XM_011536168.3:c.499A>G, XM_011536168.2:c.499A>G, XM_011536168.1:c.499A>G, XR_942601.3:n.667A>G, XR_942601.2:n.667A>G, XR_942601.1:n.667A>G, XM_006715573.3:c.499A>G, XM_006715573.2:c.499A>G, XM_006715573.1:c.499A>G, XM_005267155.3:c.499A>G, XM_005267155.2:c.499A>G, XM_005267155.1:c.499A>G, XM_011536170.3:c.499A>G, XM_011536170.2:c.499A>G, XM_011536170.1:c.499A>G, XM_011536172.3:c.4A>G, XM_011536172.2:c.4A>G, XM_011536172.1:c.4A>G, XM_006715574.3:c.4A>G, XM_006715574.2:c.4A>G, XM_006715574.1:c.4A>G, XM_011536176.3:c.499A>G, XM_011536176.2:c.499A>G, XM_011536176.1:c.499A>G, XM_011536166.2:c.499A>G, XM_011536166.1:c.499A>G, NM_001286609.2:c.4A>G, NM_001286609.1:c.4A>G, XM_011536167.2:c.499A>G, XM_011536167.1:c.499A>G, XM_017011351.2:c.499A>G, XM_017011351.1:c.499A>G, XR_007059341.1:n.667A>G, XM_047419396.1:c.499A>G, XR_007059340.1:n.667A>G, XR_942600.1:n.667A>G, NP_115507.4:p.Met167Val, XP_005267211.1:p.Met167Val, XP_011534470.1:p.Met167Val, XP_006715636.1:p.Met167Val, XP_005267212.1:p.Met167Val, XP_011534472.1:p.Met167Val, XP_011534474.1:p.Met2Val, XP_006715637.1:p.Met2Val, XP_011534478.1:p.Met167Val, XP_011534468.1:p.Met167Val, NP_001273538.1:p.Met2Val, XP_011534469.1:p.Met167Val, XP_016866840.1:p.Met167Val, XP_047275352.1:p.Met167Val

                  9.

                  rs1475923473 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    6:108912491 (GRCh38)
                    6:109233694 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:108912490:A:C
                    Gene:
                    ARMC2 (Varview), ARMC2-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000006.12:g.108912491A>C, NC_000006.11:g.109233694A>C, NM_032131.6:c.1283A>C, NM_032131.5:c.1283A>C, NM_032131.4:c.1283A>C, XM_005267154.5:c.1283A>C, XM_005267154.4:c.1283A>C, XM_005267154.3:c.1283A>C, XM_005267154.2:c.1283A>C, XM_005267154.1:c.1283A>C, XM_011536168.4:c.1283A>C, XM_011536168.3:c.1283A>C, XM_011536168.2:c.1283A>C, XM_011536168.1:c.1283A>C, XR_942601.3:n.1451A>C, XR_942601.2:n.1451A>C, XR_942601.1:n.1451A>C, XM_006715573.3:c.1283A>C, XM_006715573.2:c.1283A>C, XM_006715573.1:c.1283A>C, XM_005267155.3:c.1283A>C, XM_005267155.2:c.1283A>C, XM_005267155.1:c.1283A>C, XM_011536170.3:c.1283A>C, XM_011536170.2:c.1283A>C, XM_011536170.1:c.1283A>C, XM_011536172.3:c.788A>C, XM_011536172.2:c.788A>C, XM_011536172.1:c.788A>C, XM_006715574.3:c.788A>C, XM_006715574.2:c.788A>C, XM_006715574.1:c.788A>C, XM_011536176.3:c.1283A>C, XM_011536176.2:c.1283A>C, XM_011536176.1:c.1283A>C, XM_011536166.2:c.1283A>C, XM_011536166.1:c.1283A>C, NM_001286609.2:c.788A>C, NM_001286609.1:c.788A>C, XM_011536167.2:c.1283A>C, XM_011536167.1:c.1283A>C, XM_017011351.2:c.1283A>C, XM_017011351.1:c.1283A>C, XR_007059341.1:n.1451A>C, XM_047419396.1:c.1283A>C, XR_007059340.1:n.1451A>C, XM_047419397.1:c.542A>C, XR_942600.1:n.1451A>C, NP_115507.4:p.Lys428Thr, XP_005267211.1:p.Lys428Thr, XP_011534470.1:p.Lys428Thr, XP_006715636.1:p.Lys428Thr, XP_005267212.1:p.Lys428Thr, XP_011534472.1:p.Lys428Thr, XP_011534474.1:p.Lys263Thr, XP_006715637.1:p.Lys263Thr, XP_011534478.1:p.Lys428Thr, XP_011534468.1:p.Lys428Thr, NP_001273538.1:p.Lys263Thr, XP_011534469.1:p.Lys428Thr, XP_016866840.1:p.Lys428Thr, XP_047275352.1:p.Lys428Thr, XP_047275353.1:p.Lys181Thr

                    10.

                    rs1474822037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      6:108854296 (GRCh38)
                      6:109175499 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:108854295:G:A,NC_000006.12:108854295:G:C
                      Gene:
                      ARMC2 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.108854296G>A, NC_000006.12:g.108854296G>C, NC_000006.11:g.109175499G>A, NC_000006.11:g.109175499G>C, NM_032131.6:c.29G>A, NM_032131.6:c.29G>C, NM_032131.5:c.29G>A, NM_032131.5:c.29G>C, NM_032131.4:c.29G>A, NM_032131.4:c.29G>C, XM_005267154.5:c.29G>A, XM_005267154.5:c.29G>C, XM_005267154.4:c.29G>A, XM_005267154.4:c.29G>C, XM_005267154.3:c.29G>A, XM_005267154.3:c.29G>C, XM_005267154.2:c.29G>A, XM_005267154.2:c.29G>C, XM_005267154.1:c.29G>A, XM_005267154.1:c.29G>C, XM_011536168.4:c.29G>A, XM_011536168.4:c.29G>C, XM_011536168.3:c.29G>A, XM_011536168.3:c.29G>C, XM_011536168.2:c.29G>A, XM_011536168.2:c.29G>C, XM_011536168.1:c.29G>A, XM_011536168.1:c.29G>C, XR_942601.3:n.197G>A, XR_942601.3:n.197G>C, XR_942601.2:n.197G>A, XR_942601.2:n.197G>C, XR_942601.1:n.197G>A, XR_942601.1:n.197G>C, XM_006715573.3:c.29G>A, XM_006715573.3:c.29G>C, XM_006715573.2:c.29G>A, XM_006715573.2:c.29G>C, XM_006715573.1:c.29G>A, XM_006715573.1:c.29G>C, XM_005267155.3:c.29G>A, XM_005267155.3:c.29G>C, XM_005267155.2:c.29G>A, XM_005267155.2:c.29G>C, XM_005267155.1:c.29G>A, XM_005267155.1:c.29G>C, XM_011536170.3:c.29G>A, XM_011536170.3:c.29G>C, XM_011536170.2:c.29G>A, XM_011536170.2:c.29G>C, XM_011536170.1:c.29G>A, XM_011536170.1:c.29G>C, XM_011536176.3:c.29G>A, XM_011536176.3:c.29G>C, XM_011536176.2:c.29G>A, XM_011536176.2:c.29G>C, XM_011536176.1:c.29G>A, XM_011536176.1:c.29G>C, XM_011536166.2:c.29G>A, XM_011536166.2:c.29G>C, XM_011536166.1:c.29G>A, XM_011536166.1:c.29G>C, NM_001286609.2:c.-394G>A, NM_001286609.2:c.-394G>C, NM_001286609.1:c.-394G>A, NM_001286609.1:c.-394G>C, XM_011536167.2:c.29G>A, XM_011536167.2:c.29G>C, XM_011536167.1:c.29G>A, XM_011536167.1:c.29G>C, XM_017011351.2:c.29G>A, XM_017011351.2:c.29G>C, XM_017011351.1:c.29G>A, XM_017011351.1:c.29G>C, XR_007059341.1:n.197G>A, XR_007059341.1:n.197G>C, XM_047419396.1:c.29G>A, XM_047419396.1:c.29G>C, XR_007059340.1:n.197G>A, XR_007059340.1:n.197G>C, XR_942600.1:n.197G>A, XR_942600.1:n.197G>C, NP_115507.4:p.Gly10Glu, NP_115507.4:p.Gly10Ala, XP_005267211.1:p.Gly10Glu, XP_005267211.1:p.Gly10Ala, XP_011534470.1:p.Gly10Glu, XP_011534470.1:p.Gly10Ala, XP_006715636.1:p.Gly10Glu, XP_006715636.1:p.Gly10Ala, XP_005267212.1:p.Gly10Glu, XP_005267212.1:p.Gly10Ala, XP_011534472.1:p.Gly10Glu, XP_011534472.1:p.Gly10Ala, XP_011534478.1:p.Gly10Glu, XP_011534478.1:p.Gly10Ala, XP_011534468.1:p.Gly10Glu, XP_011534468.1:p.Gly10Ala, XP_011534469.1:p.Gly10Glu, XP_011534469.1:p.Gly10Ala, XP_016866840.1:p.Gly10Glu, XP_016866840.1:p.Gly10Ala, XP_047275352.1:p.Gly10Glu, XP_047275352.1:p.Gly10Ala

                      11.

                      rs1473627233 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:108899767 (GRCh38)
                        6:109220970 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:108899766:A:G
                        Gene:
                        ARMC2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000006.12:g.108899767A>G, NC_000006.11:g.109220970A>G, NM_032131.6:c.822A>G, NM_032131.5:c.822A>G, NM_032131.4:c.822A>G, XM_005267154.5:c.822A>G, XM_005267154.4:c.822A>G, XM_005267154.3:c.822A>G, XM_005267154.2:c.822A>G, XM_005267154.1:c.822A>G, XM_011536168.4:c.822A>G, XM_011536168.3:c.822A>G, XM_011536168.2:c.822A>G, XM_011536168.1:c.822A>G, XR_942601.3:n.990A>G, XR_942601.2:n.990A>G, XR_942601.1:n.990A>G, XM_006715573.3:c.822A>G, XM_006715573.2:c.822A>G, XM_006715573.1:c.822A>G, XM_005267155.3:c.822A>G, XM_005267155.2:c.822A>G, XM_005267155.1:c.822A>G, XM_011536170.3:c.822A>G, XM_011536170.2:c.822A>G, XM_011536170.1:c.822A>G, XM_011536172.3:c.327A>G, XM_011536172.2:c.327A>G, XM_011536172.1:c.327A>G, XM_006715574.3:c.327A>G, XM_006715574.2:c.327A>G, XM_006715574.1:c.327A>G, XM_011536176.3:c.822A>G, XM_011536176.2:c.822A>G, XM_011536176.1:c.822A>G, XM_011536166.2:c.822A>G, XM_011536166.1:c.822A>G, NM_001286609.2:c.327A>G, NM_001286609.1:c.327A>G, XM_011536167.2:c.822A>G, XM_011536167.1:c.822A>G, XM_017011351.2:c.822A>G, XM_017011351.1:c.822A>G, XR_007059341.1:n.990A>G, XM_047419396.1:c.822A>G, XR_007059340.1:n.990A>G, XM_047419397.1:c.81A>G, XR_942600.1:n.990A>G

                        12.

                        rs1472915930 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:108854360 (GRCh38)
                          6:109175563 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:108854359:T:C
                          Gene:
                          ARMC2 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.108854360T>C, NC_000006.11:g.109175563T>C, NM_032131.6:c.93T>C, NM_032131.5:c.93T>C, NM_032131.4:c.93T>C, XM_005267154.5:c.93T>C, XM_005267154.4:c.93T>C, XM_005267154.3:c.93T>C, XM_005267154.2:c.93T>C, XM_005267154.1:c.93T>C, XM_011536168.4:c.93T>C, XM_011536168.3:c.93T>C, XM_011536168.2:c.93T>C, XM_011536168.1:c.93T>C, XR_942601.3:n.261T>C, XR_942601.2:n.261T>C, XR_942601.1:n.261T>C, XM_006715573.3:c.93T>C, XM_006715573.2:c.93T>C, XM_006715573.1:c.93T>C, XM_005267155.3:c.93T>C, XM_005267155.2:c.93T>C, XM_005267155.1:c.93T>C, XM_011536170.3:c.93T>C, XM_011536170.2:c.93T>C, XM_011536170.1:c.93T>C, XM_011536176.3:c.93T>C, XM_011536176.2:c.93T>C, XM_011536176.1:c.93T>C, XM_011536166.2:c.93T>C, XM_011536166.1:c.93T>C, NM_001286609.2:c.-330T>C, NM_001286609.1:c.-330T>C, XM_011536167.2:c.93T>C, XM_011536167.1:c.93T>C, XM_017011351.2:c.93T>C, XM_017011351.1:c.93T>C, XR_007059341.1:n.261T>C, XM_047419396.1:c.93T>C, XR_007059340.1:n.261T>C, XR_942600.1:n.261T>C

                          13.

                          rs1471593421 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GG>- [Show Flanks]
                            Chromosome:
                            6:108910957 (GRCh38)
                            6:109232160 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:108910956:GG:
                            Gene:
                            ARMC2 (Varview), ARMC2-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            -=0.000029/4 (GnomAD)
                            HGVS:
                            NC_000006.12:g.108910957_108910958del, NC_000006.11:g.109232160_109232161del, NM_032131.6:c.1082_1083del, NM_032131.5:c.1082_1083del, NM_032131.4:c.1082_1083del, XM_005267154.5:c.1082_1083del, XM_005267154.4:c.1082_1083del, XM_005267154.3:c.1082_1083del, XM_005267154.2:c.1082_1083del, XM_005267154.1:c.1082_1083del, XM_011536168.4:c.1082_1083del, XM_011536168.3:c.1082_1083del, XM_011536168.2:c.1082_1083del, XM_011536168.1:c.1082_1083del, XR_942601.3:n.1250_1251del, XR_942601.2:n.1250_1251del, XR_942601.1:n.1250_1251del, XM_006715573.3:c.1082_1083del, XM_006715573.2:c.1082_1083del, XM_006715573.1:c.1082_1083del, XM_005267155.3:c.1082_1083del, XM_005267155.2:c.1082_1083del, XM_005267155.1:c.1082_1083del, XM_011536170.3:c.1082_1083del, XM_011536170.2:c.1082_1083del, XM_011536170.1:c.1082_1083del, XM_011536172.3:c.587_588del, XM_011536172.2:c.587_588del, XM_011536172.1:c.587_588del, XM_006715574.3:c.587_588del, XM_006715574.2:c.587_588del, XM_006715574.1:c.587_588del, XM_011536176.3:c.1082_1083del, XM_011536176.2:c.1082_1083del, XM_011536176.1:c.1082_1083del, XM_011536166.2:c.1082_1083del, XM_011536166.1:c.1082_1083del, NM_001286609.2:c.587_588del, NM_001286609.1:c.587_588del, XM_011536167.2:c.1082_1083del, XM_011536167.1:c.1082_1083del, XM_017011351.2:c.1082_1083del, XM_017011351.1:c.1082_1083del, XR_007059341.1:n.1250_1251del, XM_047419396.1:c.1082_1083del, XR_007059340.1:n.1250_1251del, XM_047419397.1:c.341_342del, XR_942600.1:n.1250_1251del, NP_115507.4:p.Arg361fs, XP_005267211.1:p.Arg361fs, XP_011534470.1:p.Arg361fs, XP_006715636.1:p.Arg361fs, XP_005267212.1:p.Arg361fs, XP_011534472.1:p.Arg361fs, XP_011534474.1:p.Arg196fs, XP_006715637.1:p.Arg196fs, XP_011534478.1:p.Arg361fs, XP_011534468.1:p.Arg361fs, NP_001273538.1:p.Arg196fs, XP_011534469.1:p.Arg361fs, XP_016866840.1:p.Arg361fs, XP_047275352.1:p.Arg361fs, XP_047275353.1:p.Arg114fs

                            14.

                            rs1469148986 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:108876156 (GRCh38)
                              6:109197359 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:108876155:G:A
                              Gene:
                              ARMC2 (Varview), LOC124901373 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.108876156G>A, NC_000006.11:g.109197359G>A, NM_032131.6:c.477G>A, NM_032131.5:c.477G>A, NM_032131.4:c.477G>A, XM_005267154.5:c.477G>A, XM_005267154.4:c.477G>A, XM_005267154.3:c.477G>A, XM_005267154.2:c.477G>A, XM_005267154.1:c.477G>A, XM_011536168.4:c.477G>A, XM_011536168.3:c.477G>A, XM_011536168.2:c.477G>A, XM_011536168.1:c.477G>A, XR_942601.3:n.645G>A, XR_942601.2:n.645G>A, XR_942601.1:n.645G>A, XM_006715573.3:c.477G>A, XM_006715573.2:c.477G>A, XM_006715573.1:c.477G>A, XM_005267155.3:c.477G>A, XM_005267155.2:c.477G>A, XM_005267155.1:c.477G>A, XM_011536170.3:c.477G>A, XM_011536170.2:c.477G>A, XM_011536170.1:c.477G>A, XM_011536172.3:c.-19G>A, XM_011536172.2:c.-19G>A, XM_011536172.1:c.-19G>A, XM_006715574.3:c.-19G>A, XM_006715574.2:c.-19G>A, XM_006715574.1:c.-19G>A, XM_011536176.3:c.477G>A, XM_011536176.2:c.477G>A, XM_011536176.1:c.477G>A, XM_011536166.2:c.477G>A, XM_011536166.1:c.477G>A, NM_001286609.2:c.-19G>A, NM_001286609.1:c.-19G>A, XM_011536167.2:c.477G>A, XM_011536167.1:c.477G>A, XM_017011351.2:c.477G>A, XM_017011351.1:c.477G>A, XR_007059341.1:n.645G>A, XM_047419396.1:c.477G>A, XR_007059340.1:n.645G>A, XR_942600.1:n.645G>A

                              15.

                              rs1468694305 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:108899728 (GRCh38)
                                6:109220931 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:108899727:A:G
                                Gene:
                                ARMC2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.108899728A>G, NC_000006.11:g.109220931A>G, NM_032131.6:c.783A>G, NM_032131.5:c.783A>G, NM_032131.4:c.783A>G, XM_005267154.5:c.783A>G, XM_005267154.4:c.783A>G, XM_005267154.3:c.783A>G, XM_005267154.2:c.783A>G, XM_005267154.1:c.783A>G, XM_011536168.4:c.783A>G, XM_011536168.3:c.783A>G, XM_011536168.2:c.783A>G, XM_011536168.1:c.783A>G, XR_942601.3:n.951A>G, XR_942601.2:n.951A>G, XR_942601.1:n.951A>G, XM_006715573.3:c.783A>G, XM_006715573.2:c.783A>G, XM_006715573.1:c.783A>G, XM_005267155.3:c.783A>G, XM_005267155.2:c.783A>G, XM_005267155.1:c.783A>G, XM_011536170.3:c.783A>G, XM_011536170.2:c.783A>G, XM_011536170.1:c.783A>G, XM_011536172.3:c.288A>G, XM_011536172.2:c.288A>G, XM_011536172.1:c.288A>G, XM_006715574.3:c.288A>G, XM_006715574.2:c.288A>G, XM_006715574.1:c.288A>G, XM_011536176.3:c.783A>G, XM_011536176.2:c.783A>G, XM_011536176.1:c.783A>G, XM_011536166.2:c.783A>G, XM_011536166.1:c.783A>G, NM_001286609.2:c.288A>G, NM_001286609.1:c.288A>G, XM_011536167.2:c.783A>G, XM_011536167.1:c.783A>G, XM_017011351.2:c.783A>G, XM_017011351.1:c.783A>G, XR_007059341.1:n.951A>G, XM_047419396.1:c.783A>G, XR_007059340.1:n.951A>G, XM_047419397.1:c.42A>G, XR_942600.1:n.951A>G

                                16.

                                rs1468192863 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  6:108854458 (GRCh38)
                                  6:109175661 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:108854457:C:G
                                  Gene:
                                  ARMC2 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.108854458C>G, NC_000006.11:g.109175661C>G, NM_032131.6:c.191C>G, NM_032131.5:c.191C>G, NM_032131.4:c.191C>G, XM_005267154.5:c.191C>G, XM_005267154.4:c.191C>G, XM_005267154.3:c.191C>G, XM_005267154.2:c.191C>G, XM_005267154.1:c.191C>G, XM_011536168.4:c.191C>G, XM_011536168.3:c.191C>G, XM_011536168.2:c.191C>G, XM_011536168.1:c.191C>G, XR_942601.3:n.359C>G, XR_942601.2:n.359C>G, XR_942601.1:n.359C>G, XM_006715573.3:c.191C>G, XM_006715573.2:c.191C>G, XM_006715573.1:c.191C>G, XM_005267155.3:c.191C>G, XM_005267155.2:c.191C>G, XM_005267155.1:c.191C>G, XM_011536170.3:c.191C>G, XM_011536170.2:c.191C>G, XM_011536170.1:c.191C>G, XM_011536172.3:c.-150C>G, XM_011536172.2:c.-150C>G, XM_011536172.1:c.-150C>G, XM_011536176.3:c.191C>G, XM_011536176.2:c.191C>G, XM_011536176.1:c.191C>G, XM_011536166.2:c.191C>G, XM_011536166.1:c.191C>G, NM_001286609.2:c.-232C>G, NM_001286609.1:c.-232C>G, XM_011536167.2:c.191C>G, XM_011536167.1:c.191C>G, XM_017011351.2:c.191C>G, XM_017011351.1:c.191C>G, XR_007059341.1:n.359C>G, XM_047419396.1:c.191C>G, XR_007059340.1:n.359C>G, XR_942600.1:n.359C>G, NP_115507.4:p.Ser64Ter, XP_005267211.1:p.Ser64Ter, XP_011534470.1:p.Ser64Ter, XP_006715636.1:p.Ser64Ter, XP_005267212.1:p.Ser64Ter, XP_011534472.1:p.Ser64Ter, XP_011534478.1:p.Ser64Ter, XP_011534468.1:p.Ser64Ter, XP_011534469.1:p.Ser64Ter, XP_016866840.1:p.Ser64Ter, XP_047275352.1:p.Ser64Ter

                                  17.

                                  rs1468039367 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:108904348 (GRCh38)
                                    6:109225551 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:108904347:A:G
                                    Gene:
                                    ARMC2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.108904348A>G, NC_000006.11:g.109225551A>G, NM_032131.6:c.966A>G, NM_032131.5:c.966A>G, NM_032131.4:c.966A>G, XM_005267154.5:c.966A>G, XM_005267154.4:c.966A>G, XM_005267154.3:c.966A>G, XM_005267154.2:c.966A>G, XM_005267154.1:c.966A>G, XM_011536168.4:c.966A>G, XM_011536168.3:c.966A>G, XM_011536168.2:c.966A>G, XM_011536168.1:c.966A>G, XR_942601.3:n.1134A>G, XR_942601.2:n.1134A>G, XR_942601.1:n.1134A>G, XM_006715573.3:c.966A>G, XM_006715573.2:c.966A>G, XM_006715573.1:c.966A>G, XM_005267155.3:c.966A>G, XM_005267155.2:c.966A>G, XM_005267155.1:c.966A>G, XM_011536170.3:c.966A>G, XM_011536170.2:c.966A>G, XM_011536170.1:c.966A>G, XM_011536172.3:c.471A>G, XM_011536172.2:c.471A>G, XM_011536172.1:c.471A>G, XM_006715574.3:c.471A>G, XM_006715574.2:c.471A>G, XM_006715574.1:c.471A>G, XM_011536176.3:c.966A>G, XM_011536176.2:c.966A>G, XM_011536176.1:c.966A>G, XM_011536166.2:c.966A>G, XM_011536166.1:c.966A>G, NM_001286609.2:c.471A>G, NM_001286609.1:c.471A>G, XM_011536167.2:c.966A>G, XM_011536167.1:c.966A>G, XM_017011351.2:c.966A>G, XM_017011351.1:c.966A>G, XR_007059341.1:n.1134A>G, XM_047419396.1:c.966A>G, XR_007059340.1:n.1134A>G, XM_047419397.1:c.225A>G, XR_942600.1:n.1134A>G

                                    18.

                                    rs1466025384 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:108904362 (GRCh38)
                                      6:109225565 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:108904361:G:A
                                      Gene:
                                      ARMC2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.108904362G>A, NC_000006.11:g.109225565G>A, NM_032131.6:c.980G>A, NM_032131.5:c.980G>A, NM_032131.4:c.980G>A, XM_005267154.5:c.980G>A, XM_005267154.4:c.980G>A, XM_005267154.3:c.980G>A, XM_005267154.2:c.980G>A, XM_005267154.1:c.980G>A, XM_011536168.4:c.980G>A, XM_011536168.3:c.980G>A, XM_011536168.2:c.980G>A, XM_011536168.1:c.980G>A, XR_942601.3:n.1148G>A, XR_942601.2:n.1148G>A, XR_942601.1:n.1148G>A, XM_006715573.3:c.980G>A, XM_006715573.2:c.980G>A, XM_006715573.1:c.980G>A, XM_005267155.3:c.980G>A, XM_005267155.2:c.980G>A, XM_005267155.1:c.980G>A, XM_011536170.3:c.980G>A, XM_011536170.2:c.980G>A, XM_011536170.1:c.980G>A, XM_011536172.3:c.485G>A, XM_011536172.2:c.485G>A, XM_011536172.1:c.485G>A, XM_006715574.3:c.485G>A, XM_006715574.2:c.485G>A, XM_006715574.1:c.485G>A, XM_011536176.3:c.980G>A, XM_011536176.2:c.980G>A, XM_011536176.1:c.980G>A, XM_011536166.2:c.980G>A, XM_011536166.1:c.980G>A, NM_001286609.2:c.485G>A, NM_001286609.1:c.485G>A, XM_011536167.2:c.980G>A, XM_011536167.1:c.980G>A, XM_017011351.2:c.980G>A, XM_017011351.1:c.980G>A, XR_007059341.1:n.1148G>A, XM_047419396.1:c.980G>A, XR_007059340.1:n.1148G>A, XM_047419397.1:c.239G>A, XR_942600.1:n.1148G>A, NP_115507.4:p.Gly327Asp, XP_005267211.1:p.Gly327Asp, XP_011534470.1:p.Gly327Asp, XP_006715636.1:p.Gly327Asp, XP_005267212.1:p.Gly327Asp, XP_011534472.1:p.Gly327Asp, XP_011534474.1:p.Gly162Asp, XP_006715637.1:p.Gly162Asp, XP_011534478.1:p.Gly327Asp, XP_011534468.1:p.Gly327Asp, NP_001273538.1:p.Gly162Asp, XP_011534469.1:p.Gly327Asp, XP_016866840.1:p.Gly327Asp, XP_047275352.1:p.Gly327Asp, XP_047275353.1:p.Gly80Asp

                                      19.

                                      rs1464481133 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        6:108910936 (GRCh38)
                                        6:109232139 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:108910935:A:C
                                        Gene:
                                        ARMC2 (Varview), ARMC2-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000006.12:g.108910936A>C, NC_000006.11:g.109232139A>C, NM_032131.6:c.1061A>C, NM_032131.5:c.1061A>C, NM_032131.4:c.1061A>C, XM_005267154.5:c.1061A>C, XM_005267154.4:c.1061A>C, XM_005267154.3:c.1061A>C, XM_005267154.2:c.1061A>C, XM_005267154.1:c.1061A>C, XM_011536168.4:c.1061A>C, XM_011536168.3:c.1061A>C, XM_011536168.2:c.1061A>C, XM_011536168.1:c.1061A>C, XR_942601.3:n.1229A>C, XR_942601.2:n.1229A>C, XR_942601.1:n.1229A>C, XM_006715573.3:c.1061A>C, XM_006715573.2:c.1061A>C, XM_006715573.1:c.1061A>C, XM_005267155.3:c.1061A>C, XM_005267155.2:c.1061A>C, XM_005267155.1:c.1061A>C, XM_011536170.3:c.1061A>C, XM_011536170.2:c.1061A>C, XM_011536170.1:c.1061A>C, XM_011536172.3:c.566A>C, XM_011536172.2:c.566A>C, XM_011536172.1:c.566A>C, XM_006715574.3:c.566A>C, XM_006715574.2:c.566A>C, XM_006715574.1:c.566A>C, XM_011536176.3:c.1061A>C, XM_011536176.2:c.1061A>C, XM_011536176.1:c.1061A>C, XM_011536166.2:c.1061A>C, XM_011536166.1:c.1061A>C, NM_001286609.2:c.566A>C, NM_001286609.1:c.566A>C, XM_011536167.2:c.1061A>C, XM_011536167.1:c.1061A>C, XM_017011351.2:c.1061A>C, XM_017011351.1:c.1061A>C, XR_007059341.1:n.1229A>C, XM_047419396.1:c.1061A>C, XR_007059340.1:n.1229A>C, XM_047419397.1:c.320A>C, XR_942600.1:n.1229A>C, NP_115507.4:p.Lys354Thr, XP_005267211.1:p.Lys354Thr, XP_011534470.1:p.Lys354Thr, XP_006715636.1:p.Lys354Thr, XP_005267212.1:p.Lys354Thr, XP_011534472.1:p.Lys354Thr, XP_011534474.1:p.Lys189Thr, XP_006715637.1:p.Lys189Thr, XP_011534478.1:p.Lys354Thr, XP_011534468.1:p.Lys354Thr, NP_001273538.1:p.Lys189Thr, XP_011534469.1:p.Lys354Thr, XP_016866840.1:p.Lys354Thr, XP_047275352.1:p.Lys354Thr, XP_047275353.1:p.Lys107Thr

                                        20.

                                        rs1463810890 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:108899762 (GRCh38)
                                          6:109220965 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:108899761:A:G
                                          Gene:
                                          ARMC2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000047/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.108899762A>G, NC_000006.11:g.109220965A>G, NM_032131.6:c.817A>G, NM_032131.5:c.817A>G, NM_032131.4:c.817A>G, XM_005267154.5:c.817A>G, XM_005267154.4:c.817A>G, XM_005267154.3:c.817A>G, XM_005267154.2:c.817A>G, XM_005267154.1:c.817A>G, XM_011536168.4:c.817A>G, XM_011536168.3:c.817A>G, XM_011536168.2:c.817A>G, XM_011536168.1:c.817A>G, XR_942601.3:n.985A>G, XR_942601.2:n.985A>G, XR_942601.1:n.985A>G, XM_006715573.3:c.817A>G, XM_006715573.2:c.817A>G, XM_006715573.1:c.817A>G, XM_005267155.3:c.817A>G, XM_005267155.2:c.817A>G, XM_005267155.1:c.817A>G, XM_011536170.3:c.817A>G, XM_011536170.2:c.817A>G, XM_011536170.1:c.817A>G, XM_011536172.3:c.322A>G, XM_011536172.2:c.322A>G, XM_011536172.1:c.322A>G, XM_006715574.3:c.322A>G, XM_006715574.2:c.322A>G, XM_006715574.1:c.322A>G, XM_011536176.3:c.817A>G, XM_011536176.2:c.817A>G, XM_011536176.1:c.817A>G, XM_011536166.2:c.817A>G, XM_011536166.1:c.817A>G, NM_001286609.2:c.322A>G, NM_001286609.1:c.322A>G, XM_011536167.2:c.817A>G, XM_011536167.1:c.817A>G, XM_017011351.2:c.817A>G, XM_017011351.1:c.817A>G, XR_007059341.1:n.985A>G, XM_047419396.1:c.817A>G, XR_007059340.1:n.985A>G, XM_047419397.1:c.76A>G, XR_942600.1:n.985A>G, NP_115507.4:p.Ile273Val, XP_005267211.1:p.Ile273Val, XP_011534470.1:p.Ile273Val, XP_006715636.1:p.Ile273Val, XP_005267212.1:p.Ile273Val, XP_011534472.1:p.Ile273Val, XP_011534474.1:p.Ile108Val, XP_006715637.1:p.Ile108Val, XP_011534478.1:p.Ile273Val, XP_011534468.1:p.Ile273Val, NP_001273538.1:p.Ile108Val, XP_011534469.1:p.Ile273Val, XP_016866840.1:p.Ile273Val, XP_047275352.1:p.Ile273Val, XP_047275353.1:p.Ile26Val

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