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Items: 1 to 20 of 574

1.

rs1490745184 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    3:9662284 (GRCh38)
    3:9703968 (GRCh37)
    Canonical SPDI:
    NC_000003.12:9662283:A:G
    Gene:
    MTMR14 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.9662284A>G, NC_000003.11:g.9703968A>G, NG_017068.1:g.17852A>G, NM_022485.5:c.326A>G, NM_022485.4:c.326A>G, NM_001077525.3:c.326A>G, NM_001077525.2:c.326A>G, NM_001077526.3:c.326A>G, NM_001077526.2:c.326A>G, NM_001400518.1:c.395A>G, NM_001400521.1:c.395A>G, NM_001400519.1:c.326A>G, NM_001400542.1:c.-241A>G, NM_001400520.1:c.326A>G, NM_001400534.1:c.-241A>G, NM_001400533.1:c.-180A>G, NM_001400525.1:c.44A>G, NM_001400538.1:c.-241A>G, NM_001400522.1:c.326A>G, NR_174504.1:n.405A>G, NM_001400526.1:c.395A>G, NM_001400523.1:c.326A>G, NM_001400541.1:c.-241A>G, NR_174503.1:n.405A>G, NR_174511.1:n.405A>G, NM_001400544.1:c.-253A>G, NM_001400535.1:c.-180A>G, NM_001400539.1:c.-180A>G, NM_001400547.1:c.-390A>G, NM_001400529.1:c.44A>G, NR_174507.1:n.405A>G, NR_174510.1:n.256A>G, NM_001400548.1:c.-314A>G, NR_174506.1:n.405A>G, NM_001400528.1:c.326A>G, NM_001400546.1:c.-241A>G, NM_001400543.1:c.-151A>G, NM_001400545.1:c.-180A>G, NR_174508.1:n.405A>G, NM_001400532.1:c.44A>G, NM_001400549.1:c.-241A>G, NM_001400537.1:c.44A>G, XM_017007041.2:c.44A>G, XM_017007041.1:c.44A>G, XM_011534013.2:c.-38A>G, XM_011534013.1:c.-38A>G, XR_007095717.1:n.405A>G, XR_007095718.1:n.405A>G, XR_007095719.1:n.369A>G, XM_047448719.1:c.44A>G, NP_071930.2:p.Gln109Arg, NP_001070993.1:p.Gln109Arg, NP_001070994.1:p.Gln109Arg, NP_001387447.1:p.Gln132Arg, NP_001387450.1:p.Gln132Arg, NP_001387448.1:p.Gln109Arg, NP_001387449.1:p.Gln109Arg, NP_001387454.1:p.Gln15Arg, NP_001387451.1:p.Gln109Arg, NP_001387455.1:p.Gln132Arg, NP_001387452.1:p.Gln109Arg, NP_001387458.1:p.Gln15Arg, NP_001387457.1:p.Gln109Arg, NP_001387461.1:p.Gln15Arg, NP_001387466.1:p.Gln15Arg, XP_016862530.1:p.Gln15Arg, XP_047304675.1:p.Gln15Arg

    2.

    rs1488949327 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:9653739 (GRCh38)
      3:9695423 (GRCh37)
      Canonical SPDI:
      NC_000003.12:9653738:A:G
      Gene:
      MTMR14 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.00007/1 (TOMMO)
      HGVS:
      NC_000003.12:g.9653739A>G, NC_000003.11:g.9695423A>G, NG_017068.1:g.9307A>G, NM_022485.5:c.278A>G, NM_022485.4:c.278A>G, NM_001077525.3:c.278A>G, NM_001077525.2:c.278A>G, NM_001077526.3:c.278A>G, NM_001077526.2:c.278A>G, NM_001400518.1:c.347A>G, NM_001400521.1:c.347A>G, NM_001400519.1:c.278A>G, NM_001400542.1:c.-289A>G, NM_001400520.1:c.278A>G, NM_001400534.1:c.-289A>G, NM_001400533.1:c.-228A>G, NM_001400538.1:c.-289A>G, NM_001400522.1:c.278A>G, NR_174504.1:n.357A>G, NM_001400526.1:c.347A>G, NM_001400523.1:c.278A>G, NM_001400541.1:c.-289A>G, NM_001400524.1:c.278A>G, NR_174503.1:n.357A>G, NR_174511.1:n.357A>G, NM_001400540.1:c.-256A>G, NM_001400544.1:c.-301A>G, NM_001400539.1:c.-228A>G, NM_001400547.1:c.-438A>G, NR_174507.1:n.357A>G, NM_001400548.1:c.-362A>G, NR_174506.1:n.357A>G, NM_001400527.1:c.278A>G, NM_001400528.1:c.278A>G, NM_001400546.1:c.-289A>G, NR_174509.1:n.357A>G, NM_001400545.1:c.-228A>G, NR_174508.1:n.357A>G, NM_001400549.1:c.-289A>G, NR_174505.1:n.357A>G, NM_001400530.1:c.278A>G, NM_001400531.1:c.278A>G, NM_001400536.1:c.278A>G, NM_001400550.1:c.-192A>G, XR_007095717.1:n.357A>G, XR_007095718.1:n.357A>G, XR_007095719.1:n.321A>G, NP_071930.2:p.Glu93Gly, NP_001070993.1:p.Glu93Gly, NP_001070994.1:p.Glu93Gly, NP_001387447.1:p.Glu116Gly, NP_001387450.1:p.Glu116Gly, NP_001387448.1:p.Glu93Gly, NP_001387449.1:p.Glu93Gly, NP_001387451.1:p.Glu93Gly, NP_001387455.1:p.Glu116Gly, NP_001387452.1:p.Glu93Gly, NP_001387453.1:p.Glu93Gly, NP_001387456.1:p.Glu93Gly, NP_001387457.1:p.Glu93Gly, NP_001387459.1:p.Glu93Gly, NP_001387460.1:p.Glu93Gly, NP_001387465.1:p.Glu93Gly

      3.

      rs1488239381 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:9653678 (GRCh38)
        3:9695362 (GRCh37)
        Canonical SPDI:
        NC_000003.12:9653677:G:A
        Gene:
        MTMR14 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000066/2 (ALFA)
        A=0.000012/3 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.9653678G>A, NC_000003.11:g.9695362G>A, NG_017068.1:g.9246G>A, NM_022485.5:c.217G>A, NM_022485.4:c.217G>A, NM_001077525.3:c.217G>A, NM_001077525.2:c.217G>A, NM_001077526.3:c.217G>A, NM_001077526.2:c.217G>A, NM_001400518.1:c.286G>A, NM_001400521.1:c.286G>A, NM_001400519.1:c.217G>A, NM_001400542.1:c.-350G>A, NM_001400520.1:c.217G>A, NM_001400534.1:c.-350G>A, NM_001400533.1:c.-289G>A, NM_001400538.1:c.-350G>A, NM_001400522.1:c.217G>A, NR_174504.1:n.296G>A, NM_001400526.1:c.286G>A, NM_001400523.1:c.217G>A, NM_001400541.1:c.-350G>A, NM_001400524.1:c.217G>A, NR_174503.1:n.296G>A, NR_174511.1:n.296G>A, NM_001400540.1:c.-317G>A, NM_001400544.1:c.-362G>A, NM_001400539.1:c.-289G>A, NM_001400547.1:c.-499G>A, NR_174507.1:n.296G>A, NM_001400548.1:c.-423G>A, NR_174506.1:n.296G>A, NM_001400527.1:c.217G>A, NM_001400528.1:c.217G>A, NM_001400546.1:c.-350G>A, NR_174509.1:n.296G>A, NM_001400545.1:c.-289G>A, NR_174508.1:n.296G>A, NM_001400549.1:c.-350G>A, NR_174505.1:n.296G>A, NM_001400530.1:c.217G>A, NM_001400531.1:c.217G>A, NM_001400536.1:c.217G>A, NM_001400550.1:c.-253G>A, XR_007095717.1:n.296G>A, XR_007095718.1:n.296G>A, XR_007095719.1:n.260G>A, NP_071930.2:p.Val73Met, NP_001070993.1:p.Val73Met, NP_001070994.1:p.Val73Met, NP_001387447.1:p.Val96Met, NP_001387450.1:p.Val96Met, NP_001387448.1:p.Val73Met, NP_001387449.1:p.Val73Met, NP_001387451.1:p.Val73Met, NP_001387455.1:p.Val96Met, NP_001387452.1:p.Val73Met, NP_001387453.1:p.Val73Met, NP_001387456.1:p.Val73Met, NP_001387457.1:p.Val73Met, NP_001387459.1:p.Val73Met, NP_001387460.1:p.Val73Met, NP_001387465.1:p.Val73Met

        4.

        rs1487145202 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:9669467 (GRCh38)
          3:9711151 (GRCh37)
          Canonical SPDI:
          NC_000003.12:9669466:G:A
          Gene:
          MTMR14 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000062/2 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000016/4 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.9669467G>A, NC_000003.11:g.9711151G>A, NG_017068.1:g.25035G>A, NM_022485.5:c.529G>A, NM_022485.4:c.529G>A, NM_001077525.3:c.529G>A, NM_001077525.2:c.529G>A, NM_001077526.3:c.529G>A, NM_001077526.2:c.529G>A, NM_001400518.1:c.598G>A, NM_001400521.1:c.598G>A, NM_001400519.1:c.529G>A, NM_001400542.1:c.-114G>A, NM_001400520.1:c.529G>A, NM_001400534.1:c.-114G>A, NM_001400525.1:c.247G>A, NM_001400538.1:c.-114G>A, NM_001400522.1:c.529G>A, NR_174504.1:n.608G>A, NM_001400526.1:c.598G>A, NM_001400523.1:c.529G>A, NM_001400541.1:c.-114G>A, NR_174503.1:n.608G>A, NR_174511.1:n.532G>A, NM_001400540.1:c.-114G>A, NM_001400547.1:c.-187G>A, NM_001400529.1:c.247G>A, NR_174507.1:n.608G>A, NR_174510.1:n.459G>A, NM_001400548.1:c.-187G>A, NM_001400528.1:c.529G>A, NM_001400546.1:c.-114G>A, NM_001400543.1:c.-114G>A, NR_174508.1:n.608G>A, NM_001400532.1:c.247G>A, NM_001400549.1:c.-114G>A, NM_001400537.1:c.247G>A, XM_017007041.2:c.247G>A, XM_017007041.1:c.247G>A, XM_011534013.2:c.166G>A, XM_011534013.1:c.166G>A, XR_007095717.1:n.608G>A, XR_007095718.1:n.608G>A, XR_007095719.1:n.572G>A, XM_047448719.1:c.247G>A, NP_071930.2:p.Val177Ile, NP_001070993.1:p.Val177Ile, NP_001070994.1:p.Val177Ile, NP_001387447.1:p.Val200Ile, NP_001387450.1:p.Val200Ile, NP_001387448.1:p.Val177Ile, NP_001387449.1:p.Val177Ile, NP_001387454.1:p.Val83Ile, NP_001387451.1:p.Val177Ile, NP_001387455.1:p.Val200Ile, NP_001387452.1:p.Val177Ile, NP_001387458.1:p.Val83Ile, NP_001387457.1:p.Val177Ile, NP_001387461.1:p.Val83Ile, NP_001387466.1:p.Val83Ile, XP_016862530.1:p.Val83Ile, XP_011532315.1:p.Val56Ile, XP_047304675.1:p.Val83Ile

          5.

          rs1483614090 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:9684605 (GRCh38)
            3:9726289 (GRCh37)
            Canonical SPDI:
            NC_000003.12:9684604:C:T
            Gene:
            MTMR14 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000007/1 (GnomAD)
            T=0.000024/6 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.9684605C>T, NC_000003.11:g.9726289C>T, NG_017068.1:g.40173C>T, NM_022485.5:c.985C>T, NM_022485.4:c.985C>T, NM_001077525.3:c.985C>T, NM_001077525.2:c.985C>T, NM_001077526.3:c.985C>T, NM_001077526.2:c.985C>T, NM_001400518.1:c.1054C>T, NM_001400521.1:c.1054C>T, NM_001400519.1:c.982C>T, NM_001400542.1:c.343C>T, NM_001400520.1:c.910C>T, NM_001400534.1:c.343C>T, NM_001400533.1:c.343C>T, NM_001400525.1:c.703C>T, NM_001400538.1:c.268C>T, NM_001400522.1:c.982C>T, NR_174504.1:n.1064C>T, NM_001400526.1:c.979C>T, NM_001400523.1:c.910C>T, NM_001400541.1:c.343C>T, NM_001400524.1:c.739C>T, NR_174503.1:n.989C>T, NR_174511.1:n.988C>T, NM_001400540.1:c.343C>T, NM_001400544.1:c.124C>T, NM_001400535.1:c.343C>T, NM_001400539.1:c.343C>T, NM_001400547.1:c.124C>T, NM_001400529.1:c.703C>T, NR_174507.1:n.918C>T, NR_174510.1:n.915C>T, NM_001400548.1:c.124C>T, NR_174506.1:n.852C>T, NM_001400527.1:c.739C>T, NM_001400528.1:c.910C>T, NM_001400546.1:c.343C>T, NR_174509.1:n.818C>T, NM_001400543.1:c.343C>T, NM_001400545.1:c.343C>T, NR_174508.1:n.918C>T, NM_001400532.1:c.703C>T, NM_001400549.1:c.268C>T, NM_001400537.1:c.628C>T, NR_174505.1:n.672C>T, NM_001400530.1:c.739C>T, NM_001400531.1:c.736C>T, NM_001400536.1:c.664C>T, NM_001400550.1:c.124C>T, XM_017007041.2:c.628C>T, XM_017007041.1:c.628C>T, XM_011534013.2:c.622C>T, XM_011534013.1:c.622C>T, XR_007095717.1:n.1064C>T, XR_007095718.1:n.1064C>T, XR_007095719.1:n.1028C>T, XM_047448719.1:c.628C>T, NP_071930.2:p.His329Tyr, NP_001070993.1:p.His329Tyr, NP_001070994.1:p.His329Tyr, NP_001387447.1:p.His352Tyr, NP_001387450.1:p.His352Tyr, NP_001387448.1:p.His328Tyr, NP_001387471.1:p.His115Tyr, NP_001387449.1:p.His304Tyr, NP_001387463.1:p.His115Tyr, NP_001387462.1:p.His115Tyr, NP_001387454.1:p.His235Tyr, NP_001387467.1:p.His90Tyr, NP_001387451.1:p.His328Tyr, NP_001387455.1:p.His327Tyr, NP_001387452.1:p.His304Tyr, NP_001387470.1:p.His115Tyr, NP_001387453.1:p.His247Tyr, NP_001387469.1:p.His115Tyr, NP_001387473.1:p.His42Tyr, NP_001387464.1:p.His115Tyr, NP_001387468.1:p.His115Tyr, NP_001387476.1:p.His42Tyr, NP_001387458.1:p.His235Tyr, NP_001387477.1:p.His42Tyr, NP_001387456.1:p.His247Tyr, NP_001387457.1:p.His304Tyr, NP_001387475.1:p.His115Tyr, NP_001387472.1:p.His115Tyr, NP_001387474.1:p.His115Tyr, NP_001387461.1:p.His235Tyr, NP_001387478.1:p.His90Tyr, NP_001387466.1:p.His210Tyr, NP_001387459.1:p.His247Tyr, NP_001387460.1:p.His246Tyr, NP_001387465.1:p.His222Tyr, NP_001387479.1:p.His42Tyr, XP_016862530.1:p.His210Tyr, XP_011532315.1:p.His208Tyr, XP_047304675.1:p.His210Tyr

            6.

            rs1483536746 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:9649636 (GRCh38)
              3:9691320 (GRCh37)
              Canonical SPDI:
              NC_000003.12:9649635:C:T
              Gene:
              MTMR14 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.9649636C>T, NC_000003.11:g.9691320C>T, NG_017068.1:g.5204C>T, NM_022485.5:c.53C>T, NM_022485.4:c.53C>T, NM_001077525.3:c.53C>T, NM_001077525.2:c.53C>T, NM_001077526.3:c.53C>T, NM_001077526.2:c.53C>T, NM_001400518.1:c.-81C>T, NM_001400521.1:c.-81C>T, NM_001400519.1:c.53C>T, NM_001400542.1:c.-716C>T, NM_001400520.1:c.53C>T, NM_001400534.1:c.-514C>T, NM_001400533.1:c.-453C>T, NM_001400525.1:c.-81C>T, NM_001400538.1:c.-514C>T, NM_001400522.1:c.53C>T, NR_174504.1:n.132C>T, NM_001400526.1:c.-81C>T, NM_001400523.1:c.53C>T, NM_001400541.1:c.-514C>T, NM_001400524.1:c.53C>T, NR_174503.1:n.132C>T, NR_174511.1:n.132C>T, NM_001400540.1:c.-481C>T, NM_001400544.1:c.-526C>T, NM_001400535.1:c.-304C>T, NM_001400539.1:c.-453C>T, NM_001400547.1:c.-663C>T, NM_001400529.1:c.-81C>T, NR_174507.1:n.132C>T, NR_174510.1:n.132C>T, NM_001400548.1:c.-587C>T, NR_174506.1:n.132C>T, NM_001400527.1:c.53C>T, NM_001400528.1:c.53C>T, NM_001400546.1:c.-514C>T, NR_174509.1:n.132C>T, NM_001400543.1:c.-275C>T, NM_001400545.1:c.-453C>T, NR_174508.1:n.132C>T, NM_001400532.1:c.-81C>T, NM_001400549.1:c.-514C>T, NM_001400537.1:c.-81C>T, NR_174505.1:n.132C>T, NM_001400530.1:c.53C>T, NM_001400531.1:c.53C>T, NM_001400536.1:c.53C>T, NM_001400550.1:c.-417C>T, XM_017007041.2:c.-81C>T, XM_017007041.1:c.-81C>T, XR_007095717.1:n.132C>T, XR_007095718.1:n.132C>T, XM_047448719.1:c.-81C>T, NP_071930.2:p.Ser18Phe, NP_001070993.1:p.Ser18Phe, NP_001070994.1:p.Ser18Phe, NP_001387448.1:p.Ser18Phe, NP_001387449.1:p.Ser18Phe, NP_001387451.1:p.Ser18Phe, NP_001387452.1:p.Ser18Phe, NP_001387453.1:p.Ser18Phe, NP_001387456.1:p.Ser18Phe, NP_001387457.1:p.Ser18Phe, NP_001387459.1:p.Ser18Phe, NP_001387460.1:p.Ser18Phe, NP_001387465.1:p.Ser18Phe

              7.

              rs1478066102 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                3:9662292 (GRCh38)
                3:9703976 (GRCh37)
                Canonical SPDI:
                NC_000003.12:9662291:A:C
                Gene:
                MTMR14 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.9662292A>C, NC_000003.11:g.9703976A>C, NG_017068.1:g.17860A>C, NM_022485.5:c.334A>C, NM_022485.4:c.334A>C, NM_001077525.3:c.334A>C, NM_001077525.2:c.334A>C, NM_001077526.3:c.334A>C, NM_001077526.2:c.334A>C, NM_001400518.1:c.403A>C, NM_001400521.1:c.403A>C, NM_001400519.1:c.334A>C, NM_001400542.1:c.-233A>C, NM_001400520.1:c.334A>C, NM_001400534.1:c.-233A>C, NM_001400533.1:c.-172A>C, NM_001400525.1:c.52A>C, NM_001400538.1:c.-233A>C, NM_001400522.1:c.334A>C, NR_174504.1:n.413A>C, NM_001400526.1:c.403A>C, NM_001400523.1:c.334A>C, NM_001400541.1:c.-233A>C, NR_174503.1:n.413A>C, NR_174511.1:n.413A>C, NM_001400544.1:c.-245A>C, NM_001400535.1:c.-172A>C, NM_001400539.1:c.-172A>C, NM_001400547.1:c.-382A>C, NM_001400529.1:c.52A>C, NR_174507.1:n.413A>C, NR_174510.1:n.264A>C, NM_001400548.1:c.-306A>C, NR_174506.1:n.413A>C, NM_001400528.1:c.334A>C, NM_001400546.1:c.-233A>C, NM_001400545.1:c.-172A>C, NR_174508.1:n.413A>C, NM_001400532.1:c.52A>C, NM_001400549.1:c.-233A>C, NM_001400537.1:c.52A>C, XM_017007041.2:c.52A>C, XM_017007041.1:c.52A>C, XM_011534013.2:c.-30A>C, XM_011534013.1:c.-30A>C, XR_007095717.1:n.413A>C, XR_007095718.1:n.413A>C, XR_007095719.1:n.377A>C, XM_047448719.1:c.52A>C, NP_071930.2:p.Lys112Gln, NP_001070993.1:p.Lys112Gln, NP_001070994.1:p.Lys112Gln, NP_001387447.1:p.Lys135Gln, NP_001387450.1:p.Lys135Gln, NP_001387448.1:p.Lys112Gln, NP_001387449.1:p.Lys112Gln, NP_001387454.1:p.Lys18Gln, NP_001387451.1:p.Lys112Gln, NP_001387455.1:p.Lys135Gln, NP_001387452.1:p.Lys112Gln, NP_001387458.1:p.Lys18Gln, NP_001387457.1:p.Lys112Gln, NP_001387461.1:p.Lys18Gln, NP_001387466.1:p.Lys18Gln, XP_016862530.1:p.Lys18Gln, XP_047304675.1:p.Lys18Gln

                8.

                rs1475358213 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  3:9701889 (GRCh38)
                  3:9743573 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:9701888:C:A,NC_000003.12:9701888:C:G,NC_000003.12:9701888:C:T
                  Gene:
                  MTMR14 (Varview), CPNE9 (Varview), LOC124909344 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000051/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.9701889C>A, NC_000003.12:g.9701889C>G, NC_000003.12:g.9701889C>T, NC_000003.11:g.9743573C>A, NC_000003.11:g.9743573C>G, NC_000003.11:g.9743573C>T, NG_017068.1:g.57457C>A, NG_017068.1:g.57457C>G, NG_017068.1:g.57457C>T, NM_022485.5:c.1533C>A, NM_022485.5:c.1533C>G, NM_022485.5:c.1533C>T, NM_022485.4:c.1533C>A, NM_022485.4:c.1533C>G, NM_022485.4:c.1533C>T, NM_001077525.3:c.1869C>A, NM_001077525.3:c.1869C>G, NM_001077525.3:c.1869C>T, NM_001077525.2:c.1869C>A, NM_001077525.2:c.1869C>G, NM_001077525.2:c.1869C>T, NM_001077526.3:c.1713C>A, NM_001077526.3:c.1713C>G, NM_001077526.3:c.1713C>T, NM_001077526.2:c.1713C>A, NM_001077526.2:c.1713C>G, NM_001077526.2:c.1713C>T, NM_001400518.1:c.1938C>A, NM_001400518.1:c.1938C>G, NM_001400518.1:c.1938C>T, NM_001400521.1:c.1782C>A, NM_001400521.1:c.1782C>G, NM_001400521.1:c.1782C>T, NM_001400519.1:c.1866C>A, NM_001400519.1:c.1866C>G, NM_001400519.1:c.1866C>T, NM_001400542.1:c.1071C>A, NM_001400542.1:c.1071C>G, NM_001400542.1:c.1071C>T, NM_001400520.1:c.1794C>A, NM_001400520.1:c.1794C>G, NM_001400520.1:c.1794C>T, NM_001400534.1:c.1227C>A, NM_001400534.1:c.1227C>G, NM_001400534.1:c.1227C>T, NM_001400533.1:c.1227C>A, NM_001400533.1:c.1227C>G, NM_001400533.1:c.1227C>T, NM_001400525.1:c.1587C>A, NM_001400525.1:c.1587C>G, NM_001400525.1:c.1587C>T, NM_001400538.1:c.1152C>A, NM_001400538.1:c.1152C>G, NM_001400538.1:c.1152C>T, NM_001400522.1:c.1710C>A, NM_001400522.1:c.1710C>G, NM_001400522.1:c.1710C>T, NR_174504.1:n.1768C>A, NR_174504.1:n.1768C>G, NR_174504.1:n.1768C>T, NM_001400526.1:c.1527C>A, NM_001400526.1:c.1527C>G, NM_001400526.1:c.1527C>T, NM_001400523.1:c.1638C>A, NM_001400523.1:c.1638C>G, NM_001400523.1:c.1638C>T, NM_001400541.1:c.1071C>A, NM_001400541.1:c.1071C>G, NM_001400541.1:c.1071C>T, NM_001400524.1:c.1623C>A, NM_001400524.1:c.1623C>G, NM_001400524.1:c.1623C>T, NR_174503.1:n.1693C>A, NR_174503.1:n.1693C>G, NR_174503.1:n.1693C>T, NR_174511.1:n.1692C>A, NR_174511.1:n.1692C>G, NR_174511.1:n.1692C>T, NM_001400540.1:c.1071C>A, NM_001400540.1:c.1071C>G, NM_001400540.1:c.1071C>T, NM_001400544.1:c.1008C>A, NM_001400544.1:c.1008C>G, NM_001400544.1:c.1008C>T, NM_001400535.1:c.1227C>A, NM_001400535.1:c.1227C>G, NM_001400535.1:c.1227C>T, NM_001400539.1:c.1071C>A, NM_001400539.1:c.1071C>G, NM_001400539.1:c.1071C>T, NM_001400547.1:c.852C>A, NM_001400547.1:c.852C>G, NM_001400547.1:c.852C>T, NM_001400529.1:c.1431C>A, NM_001400529.1:c.1431C>G, NM_001400529.1:c.1431C>T, NR_174507.1:n.1622C>A, NR_174507.1:n.1622C>G, NR_174507.1:n.1622C>T, NR_174510.1:n.1619C>A, NR_174510.1:n.1619C>G, NR_174510.1:n.1619C>T, NM_001400548.1:c.852C>A, NM_001400548.1:c.852C>G, NM_001400548.1:c.852C>T, NR_174506.1:n.1556C>A, NR_174506.1:n.1556C>G, NR_174506.1:n.1556C>T, NM_001400527.1:c.1467C>A, NM_001400527.1:c.1467C>G, NM_001400527.1:c.1467C>T, NM_001400528.1:c.1458C>A, NM_001400528.1:c.1458C>G, NM_001400528.1:c.1458C>T, NM_001400546.1:c.891C>A, NM_001400546.1:c.891C>G, NM_001400546.1:c.891C>T, NR_174509.1:n.1522C>A, NR_174509.1:n.1522C>G, NR_174509.1:n.1522C>T, NM_001400543.1:c.1071C>A, NM_001400543.1:c.1071C>G, NM_001400543.1:c.1071C>T, NM_001400545.1:c.891C>A, NM_001400545.1:c.891C>G, NM_001400545.1:c.891C>T, NR_174508.1:n.1466C>A, NR_174508.1:n.1466C>G, NR_174508.1:n.1466C>T, NM_001400532.1:c.1251C>A, NM_001400532.1:c.1251C>G, NM_001400532.1:c.1251C>T, NM_001400549.1:c.816C>A, NM_001400549.1:c.816C>G, NM_001400549.1:c.816C>T, NM_001400537.1:c.1176C>A, NM_001400537.1:c.1176C>G, NM_001400537.1:c.1176C>T, NR_174505.1:n.1376C>A, NR_174505.1:n.1376C>G, NR_174505.1:n.1376C>T, NM_001400530.1:c.1287C>A, NM_001400530.1:c.1287C>G, NM_001400530.1:c.1287C>T, NM_001400531.1:c.1284C>A, NM_001400531.1:c.1284C>G, NM_001400531.1:c.1284C>T, NM_001400536.1:c.1212C>A, NM_001400536.1:c.1212C>G, NM_001400536.1:c.1212C>T, NM_001400550.1:c.672C>A, NM_001400550.1:c.672C>G, NM_001400550.1:c.672C>T, XM_017007041.2:c.1512C>A, XM_017007041.2:c.1512C>G, XM_017007041.2:c.1512C>T, XM_017007041.1:c.1512C>A, XM_017007041.1:c.1512C>G, XM_017007041.1:c.1512C>T, XM_011534013.2:c.1506C>A, XM_011534013.2:c.1506C>G, XM_011534013.2:c.1506C>T, XM_011534013.1:c.1506C>A, XM_011534013.1:c.1506C>G, XM_011534013.1:c.1506C>T, XM_047448719.1:c.1356C>A, XM_047448719.1:c.1356C>G, XM_047448719.1:c.1356C>T

                  9.

                  rs1473906817 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    3:9701959 (GRCh38)
                    3:9743643 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:9701958:A:C,NC_000003.12:9701958:A:G
                    Gene:
                    MTMR14 (Varview), CPNE9 (Varview), LOC124909344 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000003.12:g.9701959A>C, NC_000003.12:g.9701959A>G, NC_000003.11:g.9743643A>C, NC_000003.11:g.9743643A>G, NG_017068.1:g.57527A>C, NG_017068.1:g.57527A>G, NM_022485.5:c.1603A>C, NM_022485.5:c.1603A>G, NM_022485.4:c.1603A>C, NM_022485.4:c.1603A>G, NM_001077525.3:c.1939A>C, NM_001077525.3:c.1939A>G, NM_001077525.2:c.1939A>C, NM_001077525.2:c.1939A>G, NM_001077526.3:c.1783A>C, NM_001077526.3:c.1783A>G, NM_001077526.2:c.1783A>C, NM_001077526.2:c.1783A>G, NM_001400518.1:c.2008A>C, NM_001400518.1:c.2008A>G, NM_001400521.1:c.1852A>C, NM_001400521.1:c.1852A>G, NM_001400519.1:c.1936A>C, NM_001400519.1:c.1936A>G, NM_001400542.1:c.1141A>C, NM_001400542.1:c.1141A>G, NM_001400520.1:c.1864A>C, NM_001400520.1:c.1864A>G, NM_001400534.1:c.1297A>C, NM_001400534.1:c.1297A>G, NM_001400533.1:c.1297A>C, NM_001400533.1:c.1297A>G, NM_001400525.1:c.1657A>C, NM_001400525.1:c.1657A>G, NM_001400538.1:c.1222A>C, NM_001400538.1:c.1222A>G, NM_001400522.1:c.1780A>C, NM_001400522.1:c.1780A>G, NR_174504.1:n.1838A>C, NR_174504.1:n.1838A>G, NM_001400526.1:c.1597A>C, NM_001400526.1:c.1597A>G, NM_001400523.1:c.1708A>C, NM_001400523.1:c.1708A>G, NM_001400541.1:c.1141A>C, NM_001400541.1:c.1141A>G, NM_001400524.1:c.1693A>C, NM_001400524.1:c.1693A>G, NR_174503.1:n.1763A>C, NR_174503.1:n.1763A>G, NR_174511.1:n.1762A>C, NR_174511.1:n.1762A>G, NM_001400540.1:c.1141A>C, NM_001400540.1:c.1141A>G, NM_001400544.1:c.1078A>C, NM_001400544.1:c.1078A>G, NM_001400535.1:c.1297A>C, NM_001400535.1:c.1297A>G, NM_001400539.1:c.1141A>C, NM_001400539.1:c.1141A>G, NM_001400547.1:c.922A>C, NM_001400547.1:c.922A>G, NM_001400529.1:c.1501A>C, NM_001400529.1:c.1501A>G, NR_174507.1:n.1692A>C, NR_174507.1:n.1692A>G, NR_174510.1:n.1689A>C, NR_174510.1:n.1689A>G, NM_001400548.1:c.922A>C, NM_001400548.1:c.922A>G, NR_174506.1:n.1626A>C, NR_174506.1:n.1626A>G, NM_001400527.1:c.1537A>C, NM_001400527.1:c.1537A>G, NM_001400528.1:c.1528A>C, NM_001400528.1:c.1528A>G, NM_001400546.1:c.961A>C, NM_001400546.1:c.961A>G, NR_174509.1:n.1592A>C, NR_174509.1:n.1592A>G, NM_001400543.1:c.1141A>C, NM_001400543.1:c.1141A>G, NM_001400545.1:c.961A>C, NM_001400545.1:c.961A>G, NR_174508.1:n.1536A>C, NR_174508.1:n.1536A>G, NM_001400532.1:c.1321A>C, NM_001400532.1:c.1321A>G, NM_001400549.1:c.886A>C, NM_001400549.1:c.886A>G, NM_001400537.1:c.1246A>C, NM_001400537.1:c.1246A>G, NR_174505.1:n.1446A>C, NR_174505.1:n.1446A>G, NM_001400530.1:c.1357A>C, NM_001400530.1:c.1357A>G, NM_001400531.1:c.1354A>C, NM_001400531.1:c.1354A>G, NM_001400536.1:c.1282A>C, NM_001400536.1:c.1282A>G, NM_001400550.1:c.742A>C, NM_001400550.1:c.742A>G, XM_017007041.2:c.1582A>C, XM_017007041.2:c.1582A>G, XM_017007041.1:c.1582A>C, XM_017007041.1:c.1582A>G, XM_011534013.2:c.1576A>C, XM_011534013.2:c.1576A>G, XM_011534013.1:c.1576A>C, XM_011534013.1:c.1576A>G, XM_047448719.1:c.1426A>C, XM_047448719.1:c.1426A>G, NP_071930.2:p.Ser535Arg, NP_071930.2:p.Ser535Gly, NP_001070993.1:p.Ser647Arg, NP_001070993.1:p.Ser647Gly, NP_001070994.1:p.Ser595Arg, NP_001070994.1:p.Ser595Gly, NP_001387447.1:p.Ser670Arg, NP_001387447.1:p.Ser670Gly, NP_001387450.1:p.Ser618Arg, NP_001387450.1:p.Ser618Gly, NP_001387448.1:p.Ser646Arg, NP_001387448.1:p.Ser646Gly, NP_001387471.1:p.Ser381Arg, NP_001387471.1:p.Ser381Gly, NP_001387449.1:p.Ser622Arg, NP_001387449.1:p.Ser622Gly, NP_001387463.1:p.Ser433Arg, NP_001387463.1:p.Ser433Gly, NP_001387462.1:p.Ser433Arg, NP_001387462.1:p.Ser433Gly, NP_001387454.1:p.Ser553Arg, NP_001387454.1:p.Ser553Gly, NP_001387467.1:p.Ser408Arg, NP_001387467.1:p.Ser408Gly, NP_001387451.1:p.Ser594Arg, NP_001387451.1:p.Ser594Gly, NP_001387455.1:p.Ser533Arg, NP_001387455.1:p.Ser533Gly, NP_001387452.1:p.Ser570Arg, NP_001387452.1:p.Ser570Gly, NP_001387470.1:p.Ser381Arg, NP_001387470.1:p.Ser381Gly, NP_001387453.1:p.Ser565Arg, NP_001387453.1:p.Ser565Gly, NP_001387469.1:p.Ser381Arg, NP_001387469.1:p.Ser381Gly, NP_001387473.1:p.Ser360Arg, NP_001387473.1:p.Ser360Gly, NP_001387464.1:p.Ser433Arg, NP_001387464.1:p.Ser433Gly, NP_001387468.1:p.Ser381Arg, NP_001387468.1:p.Ser381Gly, NP_001387476.1:p.Ser308Arg, NP_001387476.1:p.Ser308Gly, NP_001387458.1:p.Ser501Arg, NP_001387458.1:p.Ser501Gly, NP_001387477.1:p.Ser308Arg, NP_001387477.1:p.Ser308Gly, NP_001387456.1:p.Ser513Arg, NP_001387456.1:p.Ser513Gly, NP_001387457.1:p.Ser510Arg, NP_001387457.1:p.Ser510Gly, NP_001387475.1:p.Ser321Arg, NP_001387475.1:p.Ser321Gly, NP_001387472.1:p.Ser381Arg, NP_001387472.1:p.Ser381Gly, NP_001387474.1:p.Ser321Arg, NP_001387474.1:p.Ser321Gly, NP_001387461.1:p.Ser441Arg, NP_001387461.1:p.Ser441Gly, NP_001387478.1:p.Ser296Arg, NP_001387478.1:p.Ser296Gly, NP_001387466.1:p.Ser416Arg, NP_001387466.1:p.Ser416Gly, NP_001387459.1:p.Ser453Arg, NP_001387459.1:p.Ser453Gly, NP_001387460.1:p.Ser452Arg, NP_001387460.1:p.Ser452Gly, NP_001387465.1:p.Ser428Arg, NP_001387465.1:p.Ser428Gly, NP_001387479.1:p.Ser248Arg, NP_001387479.1:p.Ser248Gly, XP_016862530.1:p.Ser528Arg, XP_016862530.1:p.Ser528Gly, XP_011532315.1:p.Ser526Arg, XP_011532315.1:p.Ser526Gly, XP_047304675.1:p.Ser476Arg, XP_047304675.1:p.Ser476Gly

                    10.

                    rs1473022032 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:9649730 (GRCh38)
                      3:9691414 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:9649729:C:T
                      Gene:
                      MTMR14 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000014/2 (GnomAD)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000003.12:g.9649730C>T, NC_000003.11:g.9691414C>T, NG_017068.1:g.5298C>T, NM_022485.5:c.147C>T, NM_022485.4:c.147C>T, NM_001077525.3:c.147C>T, NM_001077525.2:c.147C>T, NM_001077526.3:c.147C>T, NM_001077526.2:c.147C>T, NM_001400518.1:c.14C>T, NM_001400521.1:c.14C>T, NM_001400519.1:c.147C>T, NM_001400542.1:c.-622C>T, NM_001400520.1:c.147C>T, NM_001400534.1:c.-420C>T, NM_001400533.1:c.-359C>T, NM_001400525.1:c.14C>T, NM_001400538.1:c.-420C>T, NM_001400522.1:c.147C>T, NR_174504.1:n.226C>T, NM_001400526.1:c.14C>T, NM_001400523.1:c.147C>T, NM_001400541.1:c.-420C>T, NM_001400524.1:c.147C>T, NR_174503.1:n.226C>T, NR_174511.1:n.226C>T, NM_001400540.1:c.-387C>T, NM_001400544.1:c.-432C>T, NM_001400535.1:c.-210C>T, NM_001400539.1:c.-359C>T, NM_001400547.1:c.-569C>T, NM_001400529.1:c.14C>T, NR_174507.1:n.226C>T, NR_174510.1:n.226C>T, NM_001400548.1:c.-493C>T, NR_174506.1:n.226C>T, NM_001400527.1:c.147C>T, NM_001400528.1:c.147C>T, NM_001400546.1:c.-420C>T, NR_174509.1:n.226C>T, NM_001400543.1:c.-181C>T, NM_001400545.1:c.-359C>T, NR_174508.1:n.226C>T, NM_001400532.1:c.14C>T, NM_001400549.1:c.-420C>T, NM_001400537.1:c.14C>T, NR_174505.1:n.226C>T, NM_001400530.1:c.147C>T, NM_001400531.1:c.147C>T, NM_001400536.1:c.147C>T, NM_001400550.1:c.-323C>T, XM_017007041.2:c.14C>T, XM_017007041.1:c.14C>T, XR_007095717.1:n.226C>T, XR_007095718.1:n.226C>T, XM_047448719.1:c.14C>T, NP_001387447.1:p.Pro5Leu, NP_001387450.1:p.Pro5Leu, NP_001387454.1:p.Pro5Leu, NP_001387455.1:p.Pro5Leu, NP_001387458.1:p.Pro5Leu, NP_001387461.1:p.Pro5Leu, NP_001387466.1:p.Pro5Leu, XP_016862530.1:p.Pro5Leu, XP_047304675.1:p.Pro5Leu

                      11.

                      rs1472222039 has merged into rs1372578070 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGC>-,TGCTGC [Show Flanks]
                        Chromosome:
                        3:9649613 (GRCh38)
                        3:9691297 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:9649610:GCTGC:GC,NC_000003.12:9649610:GCTGC:GCTGCTGC
                        Gene:
                        MTMR14 (Varview)
                        Functional Consequence:
                        inframe_deletion,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,inframe_insertion,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GCTGCTGC=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        GCT=0.000007/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.9649613_9649615del, NC_000003.12:g.9649613_9649615dup, NC_000003.11:g.9691297_9691299del, NC_000003.11:g.9691297_9691299dup, NG_017068.1:g.5181_5183del, NG_017068.1:g.5181_5183dup, NM_022485.5:c.30_32del, NM_022485.5:c.30_32dup, NM_022485.4:c.30_32del, NM_022485.4:c.30_32dup, NM_001077525.3:c.30_32del, NM_001077525.3:c.30_32dup, NM_001077525.2:c.30_32del, NM_001077525.2:c.30_32dup, NM_001077526.3:c.30_32del, NM_001077526.3:c.30_32dup, NM_001077526.2:c.30_32del, NM_001077526.2:c.30_32dup, NM_001400518.1:c.-104_-102del, NM_001400518.1:c.-104_-102dup, NM_001400521.1:c.-104_-102del, NM_001400521.1:c.-104_-102dup, NM_001400519.1:c.30_32del, NM_001400519.1:c.30_32dup, NM_001400542.1:c.-739_-737del, NM_001400542.1:c.-739_-737dup, NM_001400520.1:c.30_32del, NM_001400520.1:c.30_32dup, NM_001400534.1:c.-537_-535del, NM_001400534.1:c.-537_-535dup, NM_001400533.1:c.-476_-474del, NM_001400533.1:c.-476_-474dup, NM_001400525.1:c.-104_-102del, NM_001400525.1:c.-104_-102dup, NM_001400538.1:c.-537_-535del, NM_001400538.1:c.-537_-535dup, NM_001400522.1:c.30_32del, NM_001400522.1:c.30_32dup, NR_174504.1:n.109_111del, NR_174504.1:n.109_111dup, NM_001400526.1:c.-104_-102del, NM_001400526.1:c.-104_-102dup, NM_001400523.1:c.30_32del, NM_001400523.1:c.30_32dup, NM_001400541.1:c.-537_-535del, NM_001400541.1:c.-537_-535dup, NM_001400524.1:c.30_32del, NM_001400524.1:c.30_32dup, NR_174503.1:n.109_111del, NR_174503.1:n.109_111dup, NR_174511.1:n.109_111del, NR_174511.1:n.109_111dup, NM_001400540.1:c.-504_-502del, NM_001400540.1:c.-504_-502dup, NM_001400544.1:c.-549_-547del, NM_001400544.1:c.-549_-547dup, NM_001400535.1:c.-327_-325del, NM_001400535.1:c.-327_-325dup, NM_001400539.1:c.-476_-474del, NM_001400539.1:c.-476_-474dup, NM_001400547.1:c.-686_-684del, NM_001400547.1:c.-686_-684dup, NM_001400529.1:c.-104_-102del, NM_001400529.1:c.-104_-102dup, NR_174507.1:n.109_111del, NR_174507.1:n.109_111dup, NR_174510.1:n.109_111del, NR_174510.1:n.109_111dup, NM_001400548.1:c.-610_-608del, NM_001400548.1:c.-610_-608dup, NR_174506.1:n.109_111del, NR_174506.1:n.109_111dup, NM_001400527.1:c.30_32del, NM_001400527.1:c.30_32dup, NM_001400528.1:c.30_32del, NM_001400528.1:c.30_32dup, NM_001400546.1:c.-537_-535del, NM_001400546.1:c.-537_-535dup, NR_174509.1:n.109_111del, NR_174509.1:n.109_111dup, NM_001400543.1:c.-298_-296del, NM_001400543.1:c.-298_-296dup, NM_001400545.1:c.-476_-474del, NM_001400545.1:c.-476_-474dup, NR_174508.1:n.109_111del, NR_174508.1:n.109_111dup, NM_001400532.1:c.-104_-102del, NM_001400532.1:c.-104_-102dup, NM_001400549.1:c.-537_-535del, NM_001400549.1:c.-537_-535dup, NM_001400537.1:c.-104_-102del, NM_001400537.1:c.-104_-102dup, NR_174505.1:n.109_111del, NR_174505.1:n.109_111dup, NM_001400530.1:c.30_32del, NM_001400530.1:c.30_32dup, NM_001400531.1:c.30_32del, NM_001400531.1:c.30_32dup, NM_001400536.1:c.30_32del, NM_001400536.1:c.30_32dup, NM_001400550.1:c.-440_-438del, NM_001400550.1:c.-440_-438dup, XM_017007041.2:c.-104_-102del, XM_017007041.2:c.-104_-102dup, XM_017007041.1:c.-104_-102del, XM_017007041.1:c.-104_-102dup, XR_007095717.1:n.109_111del, XR_007095717.1:n.109_111dup, XR_007095718.1:n.109_111del, XR_007095718.1:n.109_111dup, XM_047448719.1:c.-104_-102del, XM_047448719.1:c.-104_-102dup, NP_071930.2:p.Ala11del, NP_071930.2:p.Ala11dup, NP_001070993.1:p.Ala11del, NP_001070993.1:p.Ala11dup, NP_001070994.1:p.Ala11del, NP_001070994.1:p.Ala11dup, NP_001387448.1:p.Ala11del, NP_001387448.1:p.Ala11dup, NP_001387449.1:p.Ala11del, NP_001387449.1:p.Ala11dup, NP_001387451.1:p.Ala11del, NP_001387451.1:p.Ala11dup, NP_001387452.1:p.Ala11del, NP_001387452.1:p.Ala11dup, NP_001387453.1:p.Ala11del, NP_001387453.1:p.Ala11dup, NP_001387456.1:p.Ala11del, NP_001387456.1:p.Ala11dup, NP_001387457.1:p.Ala11del, NP_001387457.1:p.Ala11dup, NP_001387459.1:p.Ala11del, NP_001387459.1:p.Ala11dup, NP_001387460.1:p.Ala11del, NP_001387460.1:p.Ala11dup, NP_001387465.1:p.Ala11del, NP_001387465.1:p.Ala11dup

                        12.

                        rs1472036728 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:9687850 (GRCh38)
                          3:9729534 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:9687849:G:A
                          Gene:
                          MTMR14 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          HGVS:
                          NC_000003.12:g.9687850G>A, NC_000003.11:g.9729534G>A, NG_017068.1:g.43418G>A, NM_022485.5:c.1194G>A, NM_022485.4:c.1194G>A, NM_001077525.3:c.1194G>A, NM_001077525.2:c.1194G>A, NM_001077526.3:c.1194G>A, NM_001077526.2:c.1194G>A, NM_001400518.1:c.1263G>A, NM_001400521.1:c.1263G>A, NM_001400519.1:c.1191G>A, NM_001400542.1:c.552G>A, NM_001400520.1:c.1119G>A, NM_001400534.1:c.552G>A, NM_001400533.1:c.552G>A, NM_001400525.1:c.912G>A, NM_001400538.1:c.477G>A, NM_001400522.1:c.1191G>A, NR_174504.1:n.1273G>A, NM_001400526.1:c.1188G>A, NM_001400523.1:c.1119G>A, NM_001400541.1:c.552G>A, NM_001400524.1:c.948G>A, NR_174503.1:n.1198G>A, NR_174511.1:n.1197G>A, NM_001400540.1:c.552G>A, NM_001400544.1:c.333G>A, NM_001400535.1:c.552G>A, NM_001400539.1:c.552G>A, NM_001400547.1:c.333G>A, NM_001400529.1:c.912G>A, NR_174507.1:n.1127G>A, NR_174510.1:n.1124G>A, NM_001400548.1:c.333G>A, NR_174506.1:n.1061G>A, NM_001400527.1:c.948G>A, NM_001400528.1:c.1119G>A, NM_001400546.1:c.552G>A, NR_174509.1:n.1027G>A, NM_001400543.1:c.552G>A, NM_001400545.1:c.552G>A, NR_174508.1:n.1127G>A, NM_001400532.1:c.912G>A, NM_001400549.1:c.477G>A, NM_001400537.1:c.837G>A, NR_174505.1:n.881G>A, NM_001400530.1:c.948G>A, NM_001400531.1:c.945G>A, NM_001400536.1:c.873G>A, NM_001400550.1:c.333G>A, XM_017007041.2:c.837G>A, XM_017007041.1:c.837G>A, XM_011534013.2:c.831G>A, XM_011534013.1:c.831G>A, XR_007095717.1:n.1273G>A, XR_007095718.1:n.1273G>A, XR_007095719.1:n.1237G>A, XM_047448719.1:c.837G>A

                          13.

                          rs1471451280 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:9671052 (GRCh38)
                            3:9712736 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:9671051:G:A
                            Gene:
                            MTMR14 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000003.12:g.9671052G>A, NC_000003.11:g.9712736G>A, NG_017068.1:g.26620G>A, NM_022485.5:c.559G>A, NM_022485.4:c.559G>A, NM_001077525.3:c.559G>A, NM_001077525.2:c.559G>A, NM_001077526.3:c.559G>A, NM_001077526.2:c.559G>A, NM_001400518.1:c.628G>A, NM_001400521.1:c.628G>A, NM_001400519.1:c.556G>A, NM_001400542.1:c.-84G>A, NM_001400520.1:c.559G>A, NM_001400534.1:c.-84G>A, NM_001400533.1:c.-84G>A, NM_001400525.1:c.277G>A, NM_001400538.1:c.-84G>A, NM_001400522.1:c.556G>A, NR_174504.1:n.638G>A, NM_001400526.1:c.628G>A, NM_001400523.1:c.559G>A, NM_001400541.1:c.-84G>A, NM_001400524.1:c.313G>A, NR_174503.1:n.638G>A, NR_174511.1:n.562G>A, NM_001400540.1:c.-84G>A, NM_001400544.1:c.-157G>A, NM_001400535.1:c.-84G>A, NM_001400539.1:c.-84G>A, NM_001400547.1:c.-157G>A, NM_001400529.1:c.277G>A, NR_174507.1:n.638G>A, NR_174510.1:n.489G>A, NM_001400548.1:c.-157G>A, NR_174506.1:n.501G>A, NM_001400527.1:c.313G>A, NM_001400528.1:c.559G>A, NM_001400546.1:c.-84G>A, NR_174509.1:n.392G>A, NM_001400543.1:c.-84G>A, NM_001400545.1:c.-84G>A, NR_174508.1:n.638G>A, NM_001400532.1:c.277G>A, NM_001400549.1:c.-84G>A, NM_001400537.1:c.277G>A, NR_174505.1:n.392G>A, NM_001400530.1:c.313G>A, NM_001400531.1:c.310G>A, NM_001400536.1:c.313G>A, NM_001400550.1:c.-157G>A, XM_017007041.2:c.277G>A, XM_017007041.1:c.277G>A, XM_011534013.2:c.196G>A, XM_011534013.1:c.196G>A, XR_007095717.1:n.638G>A, XR_007095718.1:n.638G>A, XR_007095719.1:n.602G>A, XM_047448719.1:c.277G>A, NP_071930.2:p.Gly187Ser, NP_001070993.1:p.Gly187Ser, NP_001070994.1:p.Gly187Ser, NP_001387447.1:p.Gly210Ser, NP_001387450.1:p.Gly210Ser, NP_001387448.1:p.Gly186Ser, NP_001387449.1:p.Gly187Ser, NP_001387454.1:p.Gly93Ser, NP_001387451.1:p.Gly186Ser, NP_001387455.1:p.Gly210Ser, NP_001387452.1:p.Gly187Ser, NP_001387453.1:p.Gly105Ser, NP_001387458.1:p.Gly93Ser, NP_001387456.1:p.Gly105Ser, NP_001387457.1:p.Gly187Ser, NP_001387461.1:p.Gly93Ser, NP_001387466.1:p.Gly93Ser, NP_001387459.1:p.Gly105Ser, NP_001387460.1:p.Gly104Ser, NP_001387465.1:p.Gly105Ser, XP_016862530.1:p.Gly93Ser, XP_011532315.1:p.Gly66Ser, XP_047304675.1:p.Gly93Ser

                            14.

                            rs1470373607 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:9677984 (GRCh38)
                              3:9719668 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:9677983:G:A
                              Gene:
                              MTMR14 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000003.12:g.9677984G>A, NC_000003.11:g.9719668G>A, NG_017068.1:g.33552G>A, NM_022485.5:c.823G>A, NM_022485.4:c.823G>A, NM_001077525.3:c.823G>A, NM_001077525.2:c.823G>A, NM_001077526.3:c.823G>A, NM_001077526.2:c.823G>A, NM_001400518.1:c.892G>A, NM_001400521.1:c.892G>A, NM_001400519.1:c.820G>A, NM_001400542.1:c.181G>A, NM_001400534.1:c.181G>A, NM_001400533.1:c.181G>A, NM_001400525.1:c.541G>A, NM_001400522.1:c.820G>A, NR_174504.1:n.902G>A, NM_001400541.1:c.181G>A, NM_001400524.1:c.577G>A, NR_174511.1:n.826G>A, NM_001400540.1:c.181G>A, NM_001400535.1:c.181G>A, NM_001400539.1:c.181G>A, NM_001400529.1:c.541G>A, NR_174510.1:n.753G>A, NM_001400527.1:c.577G>A, NM_001400546.1:c.181G>A, NR_174509.1:n.656G>A, NM_001400543.1:c.181G>A, NM_001400545.1:c.181G>A, NM_001400532.1:c.541G>A, NM_001400530.1:c.577G>A, NM_001400531.1:c.574G>A, XM_011534013.2:c.460G>A, XM_011534013.1:c.460G>A, XR_007095717.1:n.902G>A, XR_007095718.1:n.902G>A, XR_007095719.1:n.866G>A, NP_071930.2:p.Asp275Asn, NP_001070993.1:p.Asp275Asn, NP_001070994.1:p.Asp275Asn, NP_001387447.1:p.Asp298Asn, NP_001387450.1:p.Asp298Asn, NP_001387448.1:p.Asp274Asn, NP_001387471.1:p.Asp61Asn, NP_001387463.1:p.Asp61Asn, NP_001387462.1:p.Asp61Asn, NP_001387454.1:p.Asp181Asn, NP_001387451.1:p.Asp274Asn, NP_001387470.1:p.Asp61Asn, NP_001387453.1:p.Asp193Asn, NP_001387469.1:p.Asp61Asn, NP_001387464.1:p.Asp61Asn, NP_001387468.1:p.Asp61Asn, NP_001387458.1:p.Asp181Asn, NP_001387456.1:p.Asp193Asn, NP_001387475.1:p.Asp61Asn, NP_001387472.1:p.Asp61Asn, NP_001387474.1:p.Asp61Asn, NP_001387461.1:p.Asp181Asn, NP_001387459.1:p.Asp193Asn, NP_001387460.1:p.Asp192Asn, XP_011532315.1:p.Asp154Asn

                              15.

                              rs1469365399 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:9688999 (GRCh38)
                                3:9730683 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:9688998:G:A
                                Gene:
                                MTMR14 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.9688999G>A, NC_000003.11:g.9730683G>A, NG_017068.1:g.44567G>A, NM_022485.5:c.1350G>A, NM_022485.4:c.1350G>A, NM_001077525.3:c.1350G>A, NM_001077525.2:c.1350G>A, NM_001077526.3:c.1350G>A, NM_001077526.2:c.1350G>A, NM_001400518.1:c.1419G>A, NM_001400521.1:c.1419G>A, NM_001400519.1:c.1347G>A, NM_001400542.1:c.708G>A, NM_001400520.1:c.1275G>A, NM_001400534.1:c.708G>A, NM_001400533.1:c.708G>A, NM_001400525.1:c.1068G>A, NM_001400538.1:c.633G>A, NM_001400522.1:c.1347G>A, NR_174504.1:n.1429G>A, NM_001400526.1:c.1344G>A, NM_001400523.1:c.1275G>A, NM_001400541.1:c.708G>A, NM_001400524.1:c.1104G>A, NR_174503.1:n.1354G>A, NR_174511.1:n.1353G>A, NM_001400540.1:c.708G>A, NM_001400544.1:c.489G>A, NM_001400535.1:c.708G>A, NM_001400539.1:c.708G>A, NM_001400547.1:c.489G>A, NM_001400529.1:c.1068G>A, NR_174507.1:n.1283G>A, NR_174510.1:n.1280G>A, NM_001400548.1:c.489G>A, NR_174506.1:n.1217G>A, NM_001400527.1:c.1104G>A, NM_001400528.1:c.1275G>A, NM_001400546.1:c.708G>A, NR_174509.1:n.1183G>A, NM_001400543.1:c.708G>A, NM_001400545.1:c.708G>A, NR_174508.1:n.1283G>A, NM_001400532.1:c.1068G>A, NM_001400549.1:c.633G>A, NM_001400537.1:c.993G>A, NR_174505.1:n.1037G>A, NM_001400530.1:c.1104G>A, NM_001400531.1:c.1101G>A, NM_001400536.1:c.1029G>A, NM_001400550.1:c.489G>A, XM_017007041.2:c.993G>A, XM_017007041.1:c.993G>A, XM_011534013.2:c.987G>A, XM_011534013.1:c.987G>A, XR_007095717.1:n.1429G>A, XR_007095718.1:n.1429G>A, XR_007095719.1:n.1393G>A, XM_047448719.1:c.993G>A, NP_071930.2:p.Met450Ile, NP_001070993.1:p.Met450Ile, NP_001070994.1:p.Met450Ile, NP_001387447.1:p.Met473Ile, NP_001387450.1:p.Met473Ile, NP_001387448.1:p.Met449Ile, NP_001387471.1:p.Met236Ile, NP_001387449.1:p.Met425Ile, NP_001387463.1:p.Met236Ile, NP_001387462.1:p.Met236Ile, NP_001387454.1:p.Met356Ile, NP_001387467.1:p.Met211Ile, NP_001387451.1:p.Met449Ile, NP_001387455.1:p.Met448Ile, NP_001387452.1:p.Met425Ile, NP_001387470.1:p.Met236Ile, NP_001387453.1:p.Met368Ile, NP_001387469.1:p.Met236Ile, NP_001387473.1:p.Met163Ile, NP_001387464.1:p.Met236Ile, NP_001387468.1:p.Met236Ile, NP_001387476.1:p.Met163Ile, NP_001387458.1:p.Met356Ile, NP_001387477.1:p.Met163Ile, NP_001387456.1:p.Met368Ile, NP_001387457.1:p.Met425Ile, NP_001387475.1:p.Met236Ile, NP_001387472.1:p.Met236Ile, NP_001387474.1:p.Met236Ile, NP_001387461.1:p.Met356Ile, NP_001387478.1:p.Met211Ile, NP_001387466.1:p.Met331Ile, NP_001387459.1:p.Met368Ile, NP_001387460.1:p.Met367Ile, NP_001387465.1:p.Met343Ile, NP_001387479.1:p.Met163Ile, XP_016862530.1:p.Met331Ile, XP_011532315.1:p.Met329Ile, XP_047304675.1:p.Met331Ile

                                16.

                                rs1467663583 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:9653704 (GRCh38)
                                  3:9695388 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:9653703:C:T
                                  Gene:
                                  MTMR14 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.9653704C>T, NC_000003.11:g.9695388C>T, NG_017068.1:g.9272C>T, NM_022485.5:c.243C>T, NM_022485.4:c.243C>T, NM_001077525.3:c.243C>T, NM_001077525.2:c.243C>T, NM_001077526.3:c.243C>T, NM_001077526.2:c.243C>T, NM_001400518.1:c.312C>T, NM_001400521.1:c.312C>T, NM_001400519.1:c.243C>T, NM_001400542.1:c.-324C>T, NM_001400520.1:c.243C>T, NM_001400534.1:c.-324C>T, NM_001400533.1:c.-263C>T, NM_001400538.1:c.-324C>T, NM_001400522.1:c.243C>T, NR_174504.1:n.322C>T, NM_001400526.1:c.312C>T, NM_001400523.1:c.243C>T, NM_001400541.1:c.-324C>T, NM_001400524.1:c.243C>T, NR_174503.1:n.322C>T, NR_174511.1:n.322C>T, NM_001400540.1:c.-291C>T, NM_001400544.1:c.-336C>T, NM_001400539.1:c.-263C>T, NM_001400547.1:c.-473C>T, NR_174507.1:n.322C>T, NM_001400548.1:c.-397C>T, NR_174506.1:n.322C>T, NM_001400527.1:c.243C>T, NM_001400528.1:c.243C>T, NM_001400546.1:c.-324C>T, NR_174509.1:n.322C>T, NM_001400545.1:c.-263C>T, NR_174508.1:n.322C>T, NM_001400549.1:c.-324C>T, NR_174505.1:n.322C>T, NM_001400530.1:c.243C>T, NM_001400531.1:c.243C>T, NM_001400536.1:c.243C>T, NM_001400550.1:c.-227C>T, XR_007095717.1:n.322C>T, XR_007095718.1:n.322C>T, XR_007095719.1:n.286C>T

                                  17.

                                  rs1466012511 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:9649711 (GRCh38)
                                    3:9691395 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:9649710:C:T
                                    Gene:
                                    MTMR14 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.9649711C>T, NC_000003.11:g.9691395C>T, NG_017068.1:g.5279C>T, NM_022485.5:c.128C>T, NM_022485.4:c.128C>T, NM_001077525.3:c.128C>T, NM_001077525.2:c.128C>T, NM_001077526.3:c.128C>T, NM_001077526.2:c.128C>T, NM_001400518.1:c.-6C>T, NM_001400521.1:c.-6C>T, NM_001400519.1:c.128C>T, NM_001400542.1:c.-641C>T, NM_001400520.1:c.128C>T, NM_001400534.1:c.-439C>T, NM_001400533.1:c.-378C>T, NM_001400525.1:c.-6C>T, NM_001400538.1:c.-439C>T, NM_001400522.1:c.128C>T, NR_174504.1:n.207C>T, NM_001400526.1:c.-6C>T, NM_001400523.1:c.128C>T, NM_001400541.1:c.-439C>T, NM_001400524.1:c.128C>T, NR_174503.1:n.207C>T, NR_174511.1:n.207C>T, NM_001400540.1:c.-406C>T, NM_001400544.1:c.-451C>T, NM_001400535.1:c.-229C>T, NM_001400539.1:c.-378C>T, NM_001400547.1:c.-588C>T, NM_001400529.1:c.-6C>T, NR_174507.1:n.207C>T, NR_174510.1:n.207C>T, NM_001400548.1:c.-512C>T, NR_174506.1:n.207C>T, NM_001400527.1:c.128C>T, NM_001400528.1:c.128C>T, NM_001400546.1:c.-439C>T, NR_174509.1:n.207C>T, NM_001400543.1:c.-200C>T, NM_001400545.1:c.-378C>T, NR_174508.1:n.207C>T, NM_001400532.1:c.-6C>T, NM_001400549.1:c.-439C>T, NM_001400537.1:c.-6C>T, NR_174505.1:n.207C>T, NM_001400530.1:c.128C>T, NM_001400531.1:c.128C>T, NM_001400536.1:c.128C>T, NM_001400550.1:c.-342C>T, XM_017007041.2:c.-6C>T, XM_017007041.1:c.-6C>T, XR_007095717.1:n.207C>T, XR_007095718.1:n.207C>T, XM_047448719.1:c.-6C>T, NP_071930.2:p.Ala43Val, NP_001070993.1:p.Ala43Val, NP_001070994.1:p.Ala43Val, NP_001387448.1:p.Ala43Val, NP_001387449.1:p.Ala43Val, NP_001387451.1:p.Ala43Val, NP_001387452.1:p.Ala43Val, NP_001387453.1:p.Ala43Val, NP_001387456.1:p.Ala43Val, NP_001387457.1:p.Ala43Val, NP_001387459.1:p.Ala43Val, NP_001387460.1:p.Ala43Val, NP_001387465.1:p.Ala43Val

                                    18.

                                    rs1464404431 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      3:9688980 (GRCh38)
                                      3:9730664 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:9688979:G:C
                                      Gene:
                                      MTMR14 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.9688980G>C, NC_000003.11:g.9730664G>C, NG_017068.1:g.44548G>C, NM_022485.5:c.1331G>C, NM_022485.4:c.1331G>C, NM_001077525.3:c.1331G>C, NM_001077525.2:c.1331G>C, NM_001077526.3:c.1331G>C, NM_001077526.2:c.1331G>C, NM_001400518.1:c.1400G>C, NM_001400521.1:c.1400G>C, NM_001400519.1:c.1328G>C, NM_001400542.1:c.689G>C, NM_001400520.1:c.1256G>C, NM_001400534.1:c.689G>C, NM_001400533.1:c.689G>C, NM_001400525.1:c.1049G>C, NM_001400538.1:c.614G>C, NM_001400522.1:c.1328G>C, NR_174504.1:n.1410G>C, NM_001400526.1:c.1325G>C, NM_001400523.1:c.1256G>C, NM_001400541.1:c.689G>C, NM_001400524.1:c.1085G>C, NR_174503.1:n.1335G>C, NR_174511.1:n.1334G>C, NM_001400540.1:c.689G>C, NM_001400544.1:c.470G>C, NM_001400535.1:c.689G>C, NM_001400539.1:c.689G>C, NM_001400547.1:c.470G>C, NM_001400529.1:c.1049G>C, NR_174507.1:n.1264G>C, NR_174510.1:n.1261G>C, NM_001400548.1:c.470G>C, NR_174506.1:n.1198G>C, NM_001400527.1:c.1085G>C, NM_001400528.1:c.1256G>C, NM_001400546.1:c.689G>C, NR_174509.1:n.1164G>C, NM_001400543.1:c.689G>C, NM_001400545.1:c.689G>C, NR_174508.1:n.1264G>C, NM_001400532.1:c.1049G>C, NM_001400549.1:c.614G>C, NM_001400537.1:c.974G>C, NR_174505.1:n.1018G>C, NM_001400530.1:c.1085G>C, NM_001400531.1:c.1082G>C, NM_001400536.1:c.1010G>C, NM_001400550.1:c.470G>C, XM_017007041.2:c.974G>C, XM_017007041.1:c.974G>C, XM_011534013.2:c.968G>C, XM_011534013.1:c.968G>C, XR_007095717.1:n.1410G>C, XR_007095718.1:n.1410G>C, XR_007095719.1:n.1374G>C, XM_047448719.1:c.974G>C, NP_071930.2:p.Ser444Thr, NP_001070993.1:p.Ser444Thr, NP_001070994.1:p.Ser444Thr, NP_001387447.1:p.Ser467Thr, NP_001387450.1:p.Ser467Thr, NP_001387448.1:p.Ser443Thr, NP_001387471.1:p.Ser230Thr, NP_001387449.1:p.Ser419Thr, NP_001387463.1:p.Ser230Thr, NP_001387462.1:p.Ser230Thr, NP_001387454.1:p.Ser350Thr, NP_001387467.1:p.Ser205Thr, NP_001387451.1:p.Ser443Thr, NP_001387455.1:p.Ser442Thr, NP_001387452.1:p.Ser419Thr, NP_001387470.1:p.Ser230Thr, NP_001387453.1:p.Ser362Thr, NP_001387469.1:p.Ser230Thr, NP_001387473.1:p.Ser157Thr, NP_001387464.1:p.Ser230Thr, NP_001387468.1:p.Ser230Thr, NP_001387476.1:p.Ser157Thr, NP_001387458.1:p.Ser350Thr, NP_001387477.1:p.Ser157Thr, NP_001387456.1:p.Ser362Thr, NP_001387457.1:p.Ser419Thr, NP_001387475.1:p.Ser230Thr, NP_001387472.1:p.Ser230Thr, NP_001387474.1:p.Ser230Thr, NP_001387461.1:p.Ser350Thr, NP_001387478.1:p.Ser205Thr, NP_001387466.1:p.Ser325Thr, NP_001387459.1:p.Ser362Thr, NP_001387460.1:p.Ser361Thr, NP_001387465.1:p.Ser337Thr, NP_001387479.1:p.Ser157Thr, XP_016862530.1:p.Ser325Thr, XP_011532315.1:p.Ser323Thr, XP_047304675.1:p.Ser325Thr

                                      19.

                                      rs1462518741 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        3:9688962 (GRCh38)
                                        3:9730646 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:9688961:G:C
                                        Gene:
                                        MTMR14 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.9688962G>C, NC_000003.11:g.9730646G>C, NG_017068.1:g.44530G>C, NM_022485.5:c.1313G>C, NM_022485.4:c.1313G>C, NM_001077525.3:c.1313G>C, NM_001077525.2:c.1313G>C, NM_001077526.3:c.1313G>C, NM_001077526.2:c.1313G>C, NM_001400518.1:c.1382G>C, NM_001400521.1:c.1382G>C, NM_001400519.1:c.1310G>C, NM_001400542.1:c.671G>C, NM_001400520.1:c.1238G>C, NM_001400534.1:c.671G>C, NM_001400533.1:c.671G>C, NM_001400525.1:c.1031G>C, NM_001400538.1:c.596G>C, NM_001400522.1:c.1310G>C, NR_174504.1:n.1392G>C, NM_001400526.1:c.1307G>C, NM_001400523.1:c.1238G>C, NM_001400541.1:c.671G>C, NM_001400524.1:c.1067G>C, NR_174503.1:n.1317G>C, NR_174511.1:n.1316G>C, NM_001400540.1:c.671G>C, NM_001400544.1:c.452G>C, NM_001400535.1:c.671G>C, NM_001400539.1:c.671G>C, NM_001400547.1:c.452G>C, NM_001400529.1:c.1031G>C, NR_174507.1:n.1246G>C, NR_174510.1:n.1243G>C, NM_001400548.1:c.452G>C, NR_174506.1:n.1180G>C, NM_001400527.1:c.1067G>C, NM_001400528.1:c.1238G>C, NM_001400546.1:c.671G>C, NR_174509.1:n.1146G>C, NM_001400543.1:c.671G>C, NM_001400545.1:c.671G>C, NR_174508.1:n.1246G>C, NM_001400532.1:c.1031G>C, NM_001400549.1:c.596G>C, NM_001400537.1:c.956G>C, NR_174505.1:n.1000G>C, NM_001400530.1:c.1067G>C, NM_001400531.1:c.1064G>C, NM_001400536.1:c.992G>C, NM_001400550.1:c.452G>C, XM_017007041.2:c.956G>C, XM_017007041.1:c.956G>C, XM_011534013.2:c.950G>C, XM_011534013.1:c.950G>C, XR_007095717.1:n.1392G>C, XR_007095718.1:n.1392G>C, XR_007095719.1:n.1356G>C, XM_047448719.1:c.956G>C, NP_071930.2:p.Ser438Thr, NP_001070993.1:p.Ser438Thr, NP_001070994.1:p.Ser438Thr, NP_001387447.1:p.Ser461Thr, NP_001387450.1:p.Ser461Thr, NP_001387448.1:p.Ser437Thr, NP_001387471.1:p.Ser224Thr, NP_001387449.1:p.Ser413Thr, NP_001387463.1:p.Ser224Thr, NP_001387462.1:p.Ser224Thr, NP_001387454.1:p.Ser344Thr, NP_001387467.1:p.Ser199Thr, NP_001387451.1:p.Ser437Thr, NP_001387455.1:p.Ser436Thr, NP_001387452.1:p.Ser413Thr, NP_001387470.1:p.Ser224Thr, NP_001387453.1:p.Ser356Thr, NP_001387469.1:p.Ser224Thr, NP_001387473.1:p.Ser151Thr, NP_001387464.1:p.Ser224Thr, NP_001387468.1:p.Ser224Thr, NP_001387476.1:p.Ser151Thr, NP_001387458.1:p.Ser344Thr, NP_001387477.1:p.Ser151Thr, NP_001387456.1:p.Ser356Thr, NP_001387457.1:p.Ser413Thr, NP_001387475.1:p.Ser224Thr, NP_001387472.1:p.Ser224Thr, NP_001387474.1:p.Ser224Thr, NP_001387461.1:p.Ser344Thr, NP_001387478.1:p.Ser199Thr, NP_001387466.1:p.Ser319Thr, NP_001387459.1:p.Ser356Thr, NP_001387460.1:p.Ser355Thr, NP_001387465.1:p.Ser331Thr, NP_001387479.1:p.Ser151Thr, XP_016862530.1:p.Ser319Thr, XP_011532315.1:p.Ser317Thr, XP_047304675.1:p.Ser319Thr

                                        20.

                                        rs1458748233 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          3:9669459 (GRCh38)
                                          3:9711143 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:9669458:T:G
                                          Gene:
                                          MTMR14 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000056/2 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.9669459T>G, NC_000003.11:g.9711143T>G, NG_017068.1:g.25027T>G, NM_022485.5:c.521T>G, NM_022485.4:c.521T>G, NM_001077525.3:c.521T>G, NM_001077525.2:c.521T>G, NM_001077526.3:c.521T>G, NM_001077526.2:c.521T>G, NM_001400518.1:c.590T>G, NM_001400521.1:c.590T>G, NM_001400519.1:c.521T>G, NM_001400542.1:c.-122T>G, NM_001400520.1:c.521T>G, NM_001400534.1:c.-122T>G, NM_001400525.1:c.239T>G, NM_001400538.1:c.-122T>G, NM_001400522.1:c.521T>G, NR_174504.1:n.600T>G, NM_001400526.1:c.590T>G, NM_001400523.1:c.521T>G, NM_001400541.1:c.-122T>G, NR_174503.1:n.600T>G, NR_174511.1:n.524T>G, NM_001400540.1:c.-122T>G, NM_001400547.1:c.-195T>G, NM_001400529.1:c.239T>G, NR_174507.1:n.600T>G, NR_174510.1:n.451T>G, NM_001400548.1:c.-195T>G, NM_001400528.1:c.521T>G, NM_001400546.1:c.-122T>G, NM_001400543.1:c.-122T>G, NR_174508.1:n.600T>G, NM_001400532.1:c.239T>G, NM_001400549.1:c.-122T>G, NM_001400537.1:c.239T>G, XM_017007041.2:c.239T>G, XM_017007041.1:c.239T>G, XM_011534013.2:c.158T>G, XM_011534013.1:c.158T>G, XR_007095717.1:n.600T>G, XR_007095718.1:n.600T>G, XR_007095719.1:n.564T>G, XM_047448719.1:c.239T>G, NP_071930.2:p.Val174Gly, NP_001070993.1:p.Val174Gly, NP_001070994.1:p.Val174Gly, NP_001387447.1:p.Val197Gly, NP_001387450.1:p.Val197Gly, NP_001387448.1:p.Val174Gly, NP_001387449.1:p.Val174Gly, NP_001387454.1:p.Val80Gly, NP_001387451.1:p.Val174Gly, NP_001387455.1:p.Val197Gly, NP_001387452.1:p.Val174Gly, NP_001387458.1:p.Val80Gly, NP_001387457.1:p.Val174Gly, NP_001387461.1:p.Val80Gly, NP_001387466.1:p.Val80Gly, XP_016862530.1:p.Val80Gly, XP_011532315.1:p.Val53Gly, XP_047304675.1:p.Val80Gly

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