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Links from Protein

Items: 1 to 20 of 3782

1.

rs1491158868 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    4:122347573 (GRCh38)
    4:123268729 (GRCh37)
    Canonical SPDI:
    NC_000004.12:122347573::A
    Gene:
    KIAA1109 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.00008/1 (GoESP)
    HGVS:
    NC_000004.12:g.122347573_122347574insA, NC_000004.11:g.123268728_123268729insA, NG_015813.2:g.181971_181972insA, NM_015312.4:c.12923_12924insA, NM_015312.3:c.12923_12924insA, NM_001384125.1:c.13187_13188insA, XM_011532320.4:c.13187_13188insA, XM_011532320.3:c.13187_13188insA, XM_011532320.2:c.13187_13188insA, XM_011532320.1:c.13187_13188insA, XM_011532322.2:c.13184_13185insA, XM_011532322.1:c.13184_13185insA, XM_011532323.2:c.13136_13137insA, XM_011532323.1:c.13136_13137insA, XM_011532324.2:c.13124_13125insA, XM_011532324.1:c.13124_13125insA, XM_011532325.2:c.13082_13083insA, XM_011532325.1:c.13082_13083insA, XM_011532326.2:c.13058_13059insA, XM_011532326.1:c.13058_13059insA, XM_005263282.2:c.12986_12987insA, XM_005263282.1:c.12986_12987insA, XM_005263287.2:c.12923_12924insA, XM_005263287.1:c.12923_12924insA, XM_006714344.2:c.12920_12921insA, XM_006714344.1:c.12920_12921insA, XM_017008695.2:c.12881_12882insA, XM_017008695.1:c.12881_12882insA, XM_017008697.2:c.12818_12819insA, XM_017008697.1:c.12818_12819insA, XM_017008698.2:c.10418_10419insA, XM_017008698.1:c.10418_10419insA, XM_011532330.2:c.11438_11439insA, XM_011532330.1:c.11438_11439insA, XM_047416254.1:c.13187_13188insA, XM_047416255.1:c.13184_13185insA, XM_047416252.1:c.13187_13188insA, XM_047416256.1:c.13184_13185insA, XM_047416253.1:c.13187_13188insA, XM_047416258.1:c.13184_13185insA, XM_047416262.1:c.13055_13056insA, XM_047416251.1:c.13187_13188insA, XM_047416257.1:c.13184_13185insA, XM_047416260.1:c.13058_13059insA, XM_047416259.1:c.13058_13059insA, XM_047416263.1:c.13055_13056insA, XM_047416261.1:c.13055_13056insA, XM_047416265.1:c.13019_13020insA, XM_047416268.1:c.12830_12831insA, XM_047416266.1:c.12935_12936insA, XM_047416267.1:c.12872_12873insA, XM_047416269.1:c.12827_12828insA, XM_047416270.1:c.12803_12804insA, XM_047416271.1:c.12767_12768insA, XM_047416264.1:c.13037_13038insA, XM_047416272.1:c.12449_12450insA, XM_047416273.1:c.13187_13188insA, XM_024454243.1:c.11339_11340insA, NP_056127.2:p.Pro4309_Glu4310insTer, NP_001371054.1:p.Pro4397_Glu4398insTer, XP_011530622.1:p.Pro4397_Glu4398insTer, XP_011530624.1:p.Pro4396_Glu4397insTer, XP_011530625.1:p.Pro4380_Glu4381insTer, XP_011530626.1:p.Pro4376_Glu4377insTer, XP_011530627.1:p.Pro4362_Glu4363insTer, XP_011530628.1:p.Pro4354_Glu4355insTer, XP_005263339.1:p.Pro4330_Glu4331insTer, XP_005263344.1:p.Pro4309_Glu4310insTer, XP_006714407.1:p.Pro4308_Glu4309insTer, XP_016864184.1:p.Pro4295_Glu4296insTer, XP_016864186.1:p.Pro4274_Glu4275insTer, XP_016864187.1:p.Pro3474_Glu3475insTer, XP_011530632.1:p.Pro3814_Glu3815insTer, XP_047272210.1:p.Pro4397_Glu4398insTer, XP_047272211.1:p.Pro4396_Glu4397insTer, XP_047272208.1:p.Pro4397_Glu4398insTer, XP_047272212.1:p.Pro4396_Glu4397insTer, XP_047272209.1:p.Pro4397_Glu4398insTer, XP_047272214.1:p.Pro4396_Glu4397insTer, XP_047272218.1:p.Pro4353_Glu4354insTer, XP_047272207.1:p.Pro4397_Glu4398insTer, XP_047272213.1:p.Pro4396_Glu4397insTer, XP_047272216.1:p.Pro4354_Glu4355insTer, XP_047272215.1:p.Pro4354_Glu4355insTer, XP_047272219.1:p.Pro4353_Glu4354insTer, XP_047272217.1:p.Pro4353_Glu4354insTer, XP_047272221.1:p.Pro4341_Glu4342insTer, XP_047272224.1:p.Pro4278_Glu4279insTer, XP_047272222.1:p.Pro4313_Glu4314insTer, XP_047272223.1:p.Pro4292_Glu4293insTer, XP_047272225.1:p.Pro4277_Glu4278insTer, XP_047272226.1:p.Pro4269_Glu4270insTer, XP_047272227.1:p.Pro4257_Glu4258insTer, XP_047272220.1:p.Pro4347_Glu4348insTer, XP_047272228.1:p.Pro4151_Glu4152insTer, XP_047272229.1:p.Pro4397_Glu4398insTer, XP_024310011.1:p.Pro3781_Glu3782insTer

    2.

    rs1490799074 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:122328281 (GRCh38)
      4:123249436 (GRCh37)
      Canonical SPDI:
      NC_000004.12:122328280:A:G
      Gene:
      KIAA1109 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000004.12:g.122328281A>G, NC_000004.11:g.123249436A>G, NG_015813.2:g.162679A>G, NM_015312.4:c.11173A>G, NM_015312.3:c.11173A>G, NM_001384125.1:c.11437A>G, XM_011532320.4:c.11437A>G, XM_011532320.3:c.11437A>G, XM_011532320.2:c.11437A>G, XM_011532320.1:c.11437A>G, XM_011532322.2:c.11434A>G, XM_011532322.1:c.11434A>G, XM_011532323.2:c.11386A>G, XM_011532323.1:c.11386A>G, XM_011532324.2:c.11374A>G, XM_011532324.1:c.11374A>G, XM_011532325.2:c.11437A>G, XM_011532325.1:c.11437A>G, XM_011532326.2:c.11308A>G, XM_011532326.1:c.11308A>G, XM_005263282.2:c.11236A>G, XM_005263282.1:c.11236A>G, XM_005263287.2:c.11173A>G, XM_005263287.1:c.11173A>G, XM_006714344.2:c.11170A>G, XM_006714344.1:c.11170A>G, XM_017008695.2:c.11236A>G, XM_017008695.1:c.11236A>G, XM_017008697.2:c.11173A>G, XM_017008697.1:c.11173A>G, XM_017008698.2:c.8668A>G, XM_017008698.1:c.8668A>G, XM_011532330.2:c.9688A>G, XM_011532330.1:c.9688A>G, XM_047416254.1:c.11437A>G, XM_047416255.1:c.11434A>G, XM_047416252.1:c.11437A>G, XM_047416256.1:c.11434A>G, XM_047416253.1:c.11437A>G, XM_047416258.1:c.11434A>G, XM_047416262.1:c.11305A>G, XM_047416251.1:c.11437A>G, XM_047416257.1:c.11434A>G, XM_047416260.1:c.11308A>G, XM_047416259.1:c.11308A>G, XM_047416263.1:c.11305A>G, XM_047416261.1:c.11305A>G, XM_047416265.1:c.11374A>G, XM_047416268.1:c.11185A>G, XM_047416266.1:c.11185A>G, XM_047416267.1:c.11122A>G, XM_047416269.1:c.11182A>G, XM_047416270.1:c.11053A>G, XM_047416271.1:c.11122A>G, XM_047416264.1:c.11287A>G, XM_047416272.1:c.10699A>G, XM_047416273.1:c.11437A>G, XM_024454243.1:c.9589A>G, XM_047416275.1:c.*32A>G, XM_047416276.1:c.*32A>G, XM_047416277.1:c.*32A>G, NP_056127.2:p.Thr3725Ala, NP_001371054.1:p.Thr3813Ala, XP_011530622.1:p.Thr3813Ala, XP_011530624.1:p.Thr3812Ala, XP_011530625.1:p.Thr3796Ala, XP_011530626.1:p.Thr3792Ala, XP_011530627.1:p.Thr3813Ala, XP_011530628.1:p.Thr3770Ala, XP_005263339.1:p.Thr3746Ala, XP_005263344.1:p.Thr3725Ala, XP_006714407.1:p.Thr3724Ala, XP_016864184.1:p.Thr3746Ala, XP_016864186.1:p.Thr3725Ala, XP_016864187.1:p.Thr2890Ala, XP_011530632.1:p.Thr3230Ala, XP_047272210.1:p.Thr3813Ala, XP_047272211.1:p.Thr3812Ala, XP_047272208.1:p.Thr3813Ala, XP_047272212.1:p.Thr3812Ala, XP_047272209.1:p.Thr3813Ala, XP_047272214.1:p.Thr3812Ala, XP_047272218.1:p.Thr3769Ala, XP_047272207.1:p.Thr3813Ala, XP_047272213.1:p.Thr3812Ala, XP_047272216.1:p.Thr3770Ala, XP_047272215.1:p.Thr3770Ala, XP_047272219.1:p.Thr3769Ala, XP_047272217.1:p.Thr3769Ala, XP_047272221.1:p.Thr3792Ala, XP_047272224.1:p.Thr3729Ala, XP_047272222.1:p.Thr3729Ala, XP_047272223.1:p.Thr3708Ala, XP_047272225.1:p.Thr3728Ala, XP_047272226.1:p.Thr3685Ala, XP_047272227.1:p.Thr3708Ala, XP_047272220.1:p.Thr3763Ala, XP_047272228.1:p.Thr3567Ala, XP_047272229.1:p.Thr3813Ala, XP_024310011.1:p.Thr3197Ala

      3.

      rs1490788331 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:122197240 (GRCh38)
        4:123118395 (GRCh37)
        Canonical SPDI:
        NC_000004.12:122197239:A:G
        Gene:
        KIAA1109 (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.00009/1 (ALFA)
        HGVS:
        NC_000004.12:g.122197240A>G, NC_000004.11:g.123118395A>G, NG_015813.2:g.31638A>G, NM_015312.4:c.1254A>G, NM_015312.3:c.1254A>G, NM_001384125.1:c.1254A>G, XM_011532320.4:c.1254A>G, XM_011532320.3:c.1254A>G, XM_011532320.2:c.1254A>G, XM_011532320.1:c.1254A>G, XM_011532322.2:c.1254A>G, XM_011532322.1:c.1254A>G, XM_011532323.2:c.1254A>G, XM_011532323.1:c.1254A>G, XM_011532324.2:c.1254A>G, XM_011532324.1:c.1254A>G, XM_011532325.2:c.1254A>G, XM_011532325.1:c.1254A>G, XM_011532326.2:c.1254A>G, XM_011532326.1:c.1254A>G, XM_005263282.2:c.1254A>G, XM_005263282.1:c.1254A>G, XM_005263287.2:c.1254A>G, XM_005263287.1:c.1254A>G, XM_006714344.2:c.1254A>G, XM_006714344.1:c.1254A>G, XM_017008695.2:c.1254A>G, XM_017008695.1:c.1254A>G, XM_017008697.2:c.1254A>G, XM_017008697.1:c.1254A>G, XR_938783.2:n.1629A>G, XR_938783.1:n.1627A>G, XM_017008699.2:c.1254A>G, XM_017008699.1:c.1254A>G, XM_047416254.1:c.1254A>G, XM_047416255.1:c.1254A>G, XM_047416252.1:c.1254A>G, XM_047416256.1:c.1254A>G, XM_047416253.1:c.1254A>G, XM_047416258.1:c.1254A>G, XM_047416262.1:c.1254A>G, XM_047416251.1:c.1254A>G, XM_047416257.1:c.1254A>G, XM_047416260.1:c.1254A>G, XM_047416259.1:c.1254A>G, XM_047416263.1:c.1254A>G, XM_047416261.1:c.1254A>G, XM_047416265.1:c.1254A>G, XM_047416268.1:c.1254A>G, XM_047416266.1:c.1254A>G, XM_047416267.1:c.1254A>G, XM_047416269.1:c.1254A>G, XM_047416270.1:c.1254A>G, XM_047416271.1:c.1254A>G, XM_047416264.1:c.1104A>G, XM_047416272.1:c.516A>G, XM_047416273.1:c.1254A>G, XM_047416275.1:c.1254A>G, XM_047416276.1:c.1254A>G, XM_047416277.1:c.1254A>G

        4.

        rs1490651284 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:122343423 (GRCh38)
          4:123264578 (GRCh37)
          Canonical SPDI:
          NC_000004.12:122343422:A:G
          Gene:
          KIAA1109 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000004.12:g.122343423A>G, NC_000004.11:g.123264578A>G, NG_015813.2:g.177821A>G, NM_015312.4:c.12366A>G, NM_015312.3:c.12366A>G, NM_001384125.1:c.12630A>G, XM_011532320.4:c.12630A>G, XM_011532320.3:c.12630A>G, XM_011532320.2:c.12630A>G, XM_011532320.1:c.12630A>G, XM_011532322.2:c.12627A>G, XM_011532322.1:c.12627A>G, XM_011532323.2:c.12579A>G, XM_011532323.1:c.12579A>G, XM_011532324.2:c.12567A>G, XM_011532324.1:c.12567A>G, XM_011532325.2:c.12525A>G, XM_011532325.1:c.12525A>G, XM_011532326.2:c.12501A>G, XM_011532326.1:c.12501A>G, XM_005263282.2:c.12429A>G, XM_005263282.1:c.12429A>G, XM_005263287.2:c.12366A>G, XM_005263287.1:c.12366A>G, XM_006714344.2:c.12363A>G, XM_006714344.1:c.12363A>G, XM_017008695.2:c.12324A>G, XM_017008695.1:c.12324A>G, XM_017008697.2:c.12261A>G, XM_017008697.1:c.12261A>G, XM_017008698.2:c.9861A>G, XM_017008698.1:c.9861A>G, XM_011532330.2:c.10881A>G, XM_011532330.1:c.10881A>G, XM_047416254.1:c.12630A>G, XM_047416255.1:c.12627A>G, XM_047416252.1:c.12630A>G, XM_047416256.1:c.12627A>G, XM_047416253.1:c.12630A>G, XM_047416258.1:c.12627A>G, XM_047416262.1:c.12498A>G, XM_047416251.1:c.12630A>G, XM_047416257.1:c.12627A>G, XM_047416260.1:c.12501A>G, XM_047416259.1:c.12501A>G, XM_047416263.1:c.12498A>G, XM_047416261.1:c.12498A>G, XM_047416265.1:c.12462A>G, XM_047416268.1:c.12273A>G, XM_047416266.1:c.12378A>G, XM_047416267.1:c.12315A>G, XM_047416269.1:c.12270A>G, XM_047416270.1:c.12246A>G, XM_047416271.1:c.12210A>G, XM_047416264.1:c.12480A>G, XM_047416272.1:c.11892A>G, XM_047416273.1:c.12630A>G, XM_024454243.1:c.10782A>G

          5.

          rs1490639084 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            4:122187980 (GRCh38)
            4:123109135 (GRCh37)
            Canonical SPDI:
            NC_000004.12:122187979:C:T
            Gene:
            KIAA1109 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_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=0.000014/2 (GnomAD)
            HGVS:
            NC_000004.12:g.122187980C>T, NC_000004.11:g.123109135C>T, NG_015813.2:g.22378C>T, NM_015312.4:c.713C>T, NM_015312.3:c.713C>T, NM_001384125.1:c.713C>T, XM_011532320.4:c.713C>T, XM_011532320.3:c.713C>T, XM_011532320.2:c.713C>T, XM_011532320.1:c.713C>T, XM_011532322.2:c.713C>T, XM_011532322.1:c.713C>T, XM_011532323.2:c.713C>T, XM_011532323.1:c.713C>T, XM_011532324.2:c.713C>T, XM_011532324.1:c.713C>T, XM_011532325.2:c.713C>T, XM_011532325.1:c.713C>T, XM_011532326.2:c.713C>T, XM_011532326.1:c.713C>T, XM_005263282.2:c.713C>T, XM_005263282.1:c.713C>T, XM_005263287.2:c.713C>T, XM_005263287.1:c.713C>T, XM_006714344.2:c.713C>T, XM_006714344.1:c.713C>T, XM_017008695.2:c.713C>T, XM_017008695.1:c.713C>T, XM_017008697.2:c.713C>T, XM_017008697.1:c.713C>T, XR_938783.2:n.1088C>T, XR_938783.1:n.1086C>T, XM_017008699.2:c.713C>T, XM_017008699.1:c.713C>T, XM_047416254.1:c.713C>T, XM_047416255.1:c.713C>T, XM_047416252.1:c.713C>T, XM_047416256.1:c.713C>T, XM_047416253.1:c.713C>T, XM_047416258.1:c.713C>T, XM_047416262.1:c.713C>T, XM_047416251.1:c.713C>T, XM_047416257.1:c.713C>T, XM_047416260.1:c.713C>T, XM_047416259.1:c.713C>T, XM_047416263.1:c.713C>T, XM_047416261.1:c.713C>T, XM_047416265.1:c.713C>T, XM_047416268.1:c.713C>T, XM_047416266.1:c.713C>T, XM_047416267.1:c.713C>T, XM_047416269.1:c.713C>T, XM_047416270.1:c.713C>T, XM_047416271.1:c.713C>T, XM_047416264.1:c.563C>T, XM_047416272.1:c.-26C>T, XM_047416273.1:c.713C>T, XM_047416275.1:c.713C>T, XM_047416276.1:c.713C>T, XM_047416277.1:c.713C>T, NP_056127.2:p.Pro238Leu, NP_001371054.1:p.Pro238Leu, XP_011530622.1:p.Pro238Leu, XP_011530624.1:p.Pro238Leu, XP_011530625.1:p.Pro238Leu, XP_011530626.1:p.Pro238Leu, XP_011530627.1:p.Pro238Leu, XP_011530628.1:p.Pro238Leu, XP_005263339.1:p.Pro238Leu, XP_005263344.1:p.Pro238Leu, XP_006714407.1:p.Pro238Leu, XP_016864184.1:p.Pro238Leu, XP_016864186.1:p.Pro238Leu, XP_016864188.1:p.Pro238Leu, XP_047272210.1:p.Pro238Leu, XP_047272211.1:p.Pro238Leu, XP_047272208.1:p.Pro238Leu, XP_047272212.1:p.Pro238Leu, XP_047272209.1:p.Pro238Leu, XP_047272214.1:p.Pro238Leu, XP_047272218.1:p.Pro238Leu, XP_047272207.1:p.Pro238Leu, XP_047272213.1:p.Pro238Leu, XP_047272216.1:p.Pro238Leu, XP_047272215.1:p.Pro238Leu, XP_047272219.1:p.Pro238Leu, XP_047272217.1:p.Pro238Leu, XP_047272221.1:p.Pro238Leu, XP_047272224.1:p.Pro238Leu, XP_047272222.1:p.Pro238Leu, XP_047272223.1:p.Pro238Leu, XP_047272225.1:p.Pro238Leu, XP_047272226.1:p.Pro238Leu, XP_047272227.1:p.Pro238Leu, XP_047272220.1:p.Pro188Leu, XP_047272229.1:p.Pro238Leu, XP_047272231.1:p.Pro238Leu, XP_047272232.1:p.Pro238Leu, XP_047272233.1:p.Pro238Leu

            6.

            rs1490532574 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              4:122362237 (GRCh38)
              4:123283392 (GRCh37)
              Canonical SPDI:
              NC_000004.12:122362236:A:C
              Gene:
              KIAA1109 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000008/2 (GnomAD_exomes)
              C=0.000014/2 (GnomAD)
              HGVS:
              NC_000004.12:g.122362237A>C, NC_000004.11:g.123283392A>C, NG_015813.2:g.196635A>C, NM_015312.4:c.15008A>C, NM_015312.3:c.15008A>C, NM_001384125.1:c.15272A>C, XM_011532320.4:c.15272A>C, XM_011532320.3:c.15272A>C, XM_011532320.2:c.15272A>C, XM_011532320.1:c.15272A>C, XM_011532322.2:c.15269A>C, XM_011532322.1:c.15269A>C, XM_011532323.2:c.15221A>C, XM_011532323.1:c.15221A>C, XM_011532324.2:c.15209A>C, XM_011532324.1:c.15209A>C, XM_011532325.2:c.15167A>C, XM_011532325.1:c.15167A>C, XM_011532326.2:c.15143A>C, XM_011532326.1:c.15143A>C, XM_005263282.2:c.15071A>C, XM_005263282.1:c.15071A>C, XM_005263287.2:c.15008A>C, XM_005263287.1:c.15008A>C, XM_006714344.2:c.15005A>C, XM_006714344.1:c.15005A>C, XM_017008695.2:c.14966A>C, XM_017008695.1:c.14966A>C, XM_017008697.2:c.14903A>C, XM_017008697.1:c.14903A>C, XM_017008698.2:c.12503A>C, XM_017008698.1:c.12503A>C, XM_011532330.2:c.13523A>C, XM_011532330.1:c.13523A>C, XM_047416254.1:c.15272A>C, XM_047416255.1:c.15269A>C, XM_047416252.1:c.15272A>C, XM_047416256.1:c.15269A>C, XM_047416253.1:c.15272A>C, XM_047416258.1:c.15269A>C, XM_047416262.1:c.15140A>C, XM_047416251.1:c.15272A>C, XM_047416257.1:c.15269A>C, XM_047416260.1:c.15143A>C, XM_047416259.1:c.15143A>C, XM_047416263.1:c.15140A>C, XM_047416261.1:c.15140A>C, XM_047416265.1:c.15104A>C, XM_047416268.1:c.14915A>C, XM_047416266.1:c.15020A>C, XM_047416267.1:c.14957A>C, XM_047416269.1:c.14912A>C, XM_047416270.1:c.14888A>C, XM_047416271.1:c.14852A>C, XM_047416264.1:c.15122A>C, XM_047416272.1:c.14534A>C, XM_024454243.1:c.13424A>C, NP_056127.2:p.Glu5003Ala, NP_001371054.1:p.Glu5091Ala, XP_011530622.1:p.Glu5091Ala, XP_011530624.1:p.Glu5090Ala, XP_011530625.1:p.Glu5074Ala, XP_011530626.1:p.Glu5070Ala, XP_011530627.1:p.Glu5056Ala, XP_011530628.1:p.Glu5048Ala, XP_005263339.1:p.Glu5024Ala, XP_005263344.1:p.Glu5003Ala, XP_006714407.1:p.Glu5002Ala, XP_016864184.1:p.Glu4989Ala, XP_016864186.1:p.Glu4968Ala, XP_016864187.1:p.Glu4168Ala, XP_011530632.1:p.Glu4508Ala, XP_047272210.1:p.Glu5091Ala, XP_047272211.1:p.Glu5090Ala, XP_047272208.1:p.Glu5091Ala, XP_047272212.1:p.Glu5090Ala, XP_047272209.1:p.Glu5091Ala, XP_047272214.1:p.Glu5090Ala, XP_047272218.1:p.Glu5047Ala, XP_047272207.1:p.Glu5091Ala, XP_047272213.1:p.Glu5090Ala, XP_047272216.1:p.Glu5048Ala, XP_047272215.1:p.Glu5048Ala, XP_047272219.1:p.Glu5047Ala, XP_047272217.1:p.Glu5047Ala, XP_047272221.1:p.Glu5035Ala, XP_047272224.1:p.Glu4972Ala, XP_047272222.1:p.Glu5007Ala, XP_047272223.1:p.Glu4986Ala, XP_047272225.1:p.Glu4971Ala, XP_047272226.1:p.Glu4963Ala, XP_047272227.1:p.Glu4951Ala, XP_047272220.1:p.Glu5041Ala, XP_047272228.1:p.Glu4845Ala, XP_024310011.1:p.Glu4475Ala

              7.

              rs1490206241 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:122355922 (GRCh38)
                4:123277077 (GRCh37)
                Canonical SPDI:
                NC_000004.12:122355921:C:T
                Gene:
                KIAA1109 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000004.12:g.122355922C>T, NC_000004.11:g.123277077C>T, NG_015813.2:g.190320C>T, NM_015312.4:c.14432C>T, NM_015312.3:c.14432C>T, NM_001384125.1:c.14696C>T, XM_011532320.4:c.14696C>T, XM_011532320.3:c.14696C>T, XM_011532320.2:c.14696C>T, XM_011532320.1:c.14696C>T, XM_011532322.2:c.14693C>T, XM_011532322.1:c.14693C>T, XM_011532323.2:c.14645C>T, XM_011532323.1:c.14645C>T, XM_011532324.2:c.14633C>T, XM_011532324.1:c.14633C>T, XM_011532325.2:c.14591C>T, XM_011532325.1:c.14591C>T, XM_011532326.2:c.14567C>T, XM_011532326.1:c.14567C>T, XM_005263282.2:c.14495C>T, XM_005263282.1:c.14495C>T, XM_005263287.2:c.14432C>T, XM_005263287.1:c.14432C>T, XM_006714344.2:c.14429C>T, XM_006714344.1:c.14429C>T, XM_017008695.2:c.14390C>T, XM_017008695.1:c.14390C>T, XM_017008697.2:c.14327C>T, XM_017008697.1:c.14327C>T, XM_017008698.2:c.11927C>T, XM_017008698.1:c.11927C>T, XM_011532330.2:c.12947C>T, XM_011532330.1:c.12947C>T, XM_047416254.1:c.14696C>T, XM_047416255.1:c.14693C>T, XM_047416252.1:c.14696C>T, XM_047416256.1:c.14693C>T, XM_047416253.1:c.14696C>T, XM_047416258.1:c.14693C>T, XM_047416262.1:c.14564C>T, XM_047416251.1:c.14696C>T, XM_047416257.1:c.14693C>T, XM_047416260.1:c.14567C>T, XM_047416259.1:c.14567C>T, XM_047416263.1:c.14564C>T, XM_047416261.1:c.14564C>T, XM_047416265.1:c.14528C>T, XM_047416268.1:c.14339C>T, XM_047416266.1:c.14444C>T, XM_047416267.1:c.14381C>T, XM_047416269.1:c.14336C>T, XM_047416270.1:c.14312C>T, XM_047416271.1:c.14276C>T, XM_047416264.1:c.14546C>T, XM_047416272.1:c.13958C>T, XM_024454243.1:c.12848C>T, NP_056127.2:p.Ala4811Val, NP_001371054.1:p.Ala4899Val, XP_011530622.1:p.Ala4899Val, XP_011530624.1:p.Ala4898Val, XP_011530625.1:p.Ala4882Val, XP_011530626.1:p.Ala4878Val, XP_011530627.1:p.Ala4864Val, XP_011530628.1:p.Ala4856Val, XP_005263339.1:p.Ala4832Val, XP_005263344.1:p.Ala4811Val, XP_006714407.1:p.Ala4810Val, XP_016864184.1:p.Ala4797Val, XP_016864186.1:p.Ala4776Val, XP_016864187.1:p.Ala3976Val, XP_011530632.1:p.Ala4316Val, XP_047272210.1:p.Ala4899Val, XP_047272211.1:p.Ala4898Val, XP_047272208.1:p.Ala4899Val, XP_047272212.1:p.Ala4898Val, XP_047272209.1:p.Ala4899Val, XP_047272214.1:p.Ala4898Val, XP_047272218.1:p.Ala4855Val, XP_047272207.1:p.Ala4899Val, XP_047272213.1:p.Ala4898Val, XP_047272216.1:p.Ala4856Val, XP_047272215.1:p.Ala4856Val, XP_047272219.1:p.Ala4855Val, XP_047272217.1:p.Ala4855Val, XP_047272221.1:p.Ala4843Val, XP_047272224.1:p.Ala4780Val, XP_047272222.1:p.Ala4815Val, XP_047272223.1:p.Ala4794Val, XP_047272225.1:p.Ala4779Val, XP_047272226.1:p.Ala4771Val, XP_047272227.1:p.Ala4759Val, XP_047272220.1:p.Ala4849Val, XP_047272228.1:p.Ala4653Val, XP_024310011.1:p.Ala4283Val

                8.

                rs1489798824 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:122247244 (GRCh38)
                  4:123168399 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:122247243:C:T
                  Gene:
                  KIAA1109 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.122247244C>T, NC_000004.11:g.123168399C>T, NG_015813.2:g.81642C>T, NM_015312.4:c.5399C>T, NM_015312.3:c.5399C>T, NM_001384125.1:c.5399C>T, XM_011532320.4:c.5399C>T, XM_011532320.3:c.5399C>T, XM_011532320.2:c.5399C>T, XM_011532320.1:c.5399C>T, XM_011532322.2:c.5396C>T, XM_011532322.1:c.5396C>T, XM_011532323.2:c.5399C>T, XM_011532323.1:c.5399C>T, XM_011532324.2:c.5399C>T, XM_011532324.1:c.5399C>T, XM_011532325.2:c.5399C>T, XM_011532325.1:c.5399C>T, XM_011532326.2:c.5270C>T, XM_011532326.1:c.5270C>T, XM_005263282.2:c.5399C>T, XM_005263282.1:c.5399C>T, XM_005263287.2:c.5399C>T, XM_005263287.1:c.5399C>T, XM_006714344.2:c.5396C>T, XM_006714344.1:c.5396C>T, XM_017008695.2:c.5399C>T, XM_017008695.1:c.5399C>T, XM_017008697.2:c.5399C>T, XM_017008697.1:c.5399C>T, XM_017008698.2:c.2630C>T, XM_017008698.1:c.2630C>T, XM_011532330.2:c.3650C>T, XM_011532330.1:c.3650C>T, XR_938783.2:n.5774C>T, XR_938783.1:n.5772C>T, XM_017008699.2:c.5399C>T, XM_017008699.1:c.5399C>T, XM_047416254.1:c.5399C>T, XM_047416255.1:c.5396C>T, XM_047416252.1:c.5399C>T, XM_047416256.1:c.5396C>T, XM_047416253.1:c.5399C>T, XM_047416258.1:c.5396C>T, XM_047416262.1:c.5267C>T, XM_047416251.1:c.5399C>T, XM_047416257.1:c.5396C>T, XM_047416260.1:c.5270C>T, XM_047416259.1:c.5270C>T, XM_047416263.1:c.5267C>T, XM_047416261.1:c.5267C>T, XM_047416265.1:c.5399C>T, XM_047416268.1:c.5399C>T, XM_047416266.1:c.5399C>T, XM_047416267.1:c.5399C>T, XM_047416269.1:c.5396C>T, XM_047416270.1:c.5267C>T, XM_047416271.1:c.5399C>T, XM_047416264.1:c.5249C>T, XM_047416272.1:c.4661C>T, XM_047416273.1:c.5399C>T, XM_024454243.1:c.3551C>T, XM_047416275.1:c.5399C>T, XM_047416276.1:c.5399C>T, XM_047416277.1:c.5399C>T, NP_056127.2:p.Pro1800Leu, NP_001371054.1:p.Pro1800Leu, XP_011530622.1:p.Pro1800Leu, XP_011530624.1:p.Pro1799Leu, XP_011530625.1:p.Pro1800Leu, XP_011530626.1:p.Pro1800Leu, XP_011530627.1:p.Pro1800Leu, XP_011530628.1:p.Pro1757Leu, XP_005263339.1:p.Pro1800Leu, XP_005263344.1:p.Pro1800Leu, XP_006714407.1:p.Pro1799Leu, XP_016864184.1:p.Pro1800Leu, XP_016864186.1:p.Pro1800Leu, XP_016864187.1:p.Pro877Leu, XP_011530632.1:p.Pro1217Leu, XP_016864188.1:p.Pro1800Leu, XP_047272210.1:p.Pro1800Leu, XP_047272211.1:p.Pro1799Leu, XP_047272208.1:p.Pro1800Leu, XP_047272212.1:p.Pro1799Leu, XP_047272209.1:p.Pro1800Leu, XP_047272214.1:p.Pro1799Leu, XP_047272218.1:p.Pro1756Leu, XP_047272207.1:p.Pro1800Leu, XP_047272213.1:p.Pro1799Leu, XP_047272216.1:p.Pro1757Leu, XP_047272215.1:p.Pro1757Leu, XP_047272219.1:p.Pro1756Leu, XP_047272217.1:p.Pro1756Leu, XP_047272221.1:p.Pro1800Leu, XP_047272224.1:p.Pro1800Leu, XP_047272222.1:p.Pro1800Leu, XP_047272223.1:p.Pro1800Leu, XP_047272225.1:p.Pro1799Leu, XP_047272226.1:p.Pro1756Leu, XP_047272227.1:p.Pro1800Leu, XP_047272220.1:p.Pro1750Leu, XP_047272228.1:p.Pro1554Leu, XP_047272229.1:p.Pro1800Leu, XP_024310011.1:p.Pro1184Leu, XP_047272231.1:p.Pro1800Leu, XP_047272232.1:p.Pro1800Leu, XP_047272233.1:p.Pro1800Leu

                  9.

                  rs1489741327 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:122254260 (GRCh38)
                    4:123175415 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:122254259:A:G
                    Gene:
                    KIAA1109 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000019/5 (TOPMED)
                    G=0.000021/3 (GnomAD)
                    HGVS:
                    NC_000004.12:g.122254260A>G, NC_000004.11:g.123175415A>G, NG_015813.2:g.88658A>G, NM_015312.4:c.5988A>G, NM_015312.3:c.5988A>G, NM_001384125.1:c.5988A>G, XM_011532320.4:c.5988A>G, XM_011532320.3:c.5988A>G, XM_011532320.2:c.5988A>G, XM_011532320.1:c.5988A>G, XM_011532322.2:c.5985A>G, XM_011532322.1:c.5985A>G, XM_011532323.2:c.5988A>G, XM_011532323.1:c.5988A>G, XM_011532324.2:c.5988A>G, XM_011532324.1:c.5988A>G, XM_011532325.2:c.5988A>G, XM_011532325.1:c.5988A>G, XM_011532326.2:c.5859A>G, XM_011532326.1:c.5859A>G, XM_005263282.2:c.5988A>G, XM_005263282.1:c.5988A>G, XM_005263287.2:c.5988A>G, XM_005263287.1:c.5988A>G, XM_006714344.2:c.5985A>G, XM_006714344.1:c.5985A>G, XM_017008695.2:c.5988A>G, XM_017008695.1:c.5988A>G, XM_017008697.2:c.5988A>G, XM_017008697.1:c.5988A>G, XM_017008698.2:c.3219A>G, XM_017008698.1:c.3219A>G, XM_011532330.2:c.4239A>G, XM_011532330.1:c.4239A>G, XR_938783.2:n.6363A>G, XR_938783.1:n.6361A>G, XM_017008699.2:c.5988A>G, XM_017008699.1:c.5988A>G, XM_047416254.1:c.5988A>G, XM_047416255.1:c.5985A>G, XM_047416252.1:c.5988A>G, XM_047416256.1:c.5985A>G, XM_047416253.1:c.5988A>G, XM_047416258.1:c.5985A>G, XM_047416262.1:c.5856A>G, XM_047416251.1:c.5988A>G, XM_047416257.1:c.5985A>G, XM_047416260.1:c.5859A>G, XM_047416259.1:c.5859A>G, XM_047416263.1:c.5856A>G, XM_047416261.1:c.5856A>G, XM_047416265.1:c.5988A>G, XM_047416268.1:c.5988A>G, XM_047416266.1:c.5988A>G, XM_047416267.1:c.5988A>G, XM_047416269.1:c.5985A>G, XM_047416270.1:c.5856A>G, XM_047416271.1:c.5988A>G, XM_047416264.1:c.5838A>G, XM_047416272.1:c.5250A>G, XM_047416273.1:c.5988A>G, XM_024454243.1:c.4140A>G, XM_047416275.1:c.5988A>G, XM_047416276.1:c.5988A>G, XM_047416277.1:c.5988A>G

                    10.

                    rs1489672137 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:122339307 (GRCh38)
                      4:123260462 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:122339306:T:C
                      Gene:
                      KIAA1109 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000004.12:g.122339307T>C, NC_000004.11:g.123260462T>C, NG_015813.2:g.173705T>C, NM_015312.4:c.12251T>C, NM_015312.3:c.12251T>C, NM_001384125.1:c.12515T>C, XM_011532320.4:c.12515T>C, XM_011532320.3:c.12515T>C, XM_011532320.2:c.12515T>C, XM_011532320.1:c.12515T>C, XM_011532322.2:c.12512T>C, XM_011532322.1:c.12512T>C, XM_011532323.2:c.12464T>C, XM_011532323.1:c.12464T>C, XM_011532324.2:c.12452T>C, XM_011532324.1:c.12452T>C, XM_011532325.2:c.12410T>C, XM_011532325.1:c.12410T>C, XM_011532326.2:c.12386T>C, XM_011532326.1:c.12386T>C, XM_005263282.2:c.12314T>C, XM_005263282.1:c.12314T>C, XM_005263287.2:c.12251T>C, XM_005263287.1:c.12251T>C, XM_006714344.2:c.12248T>C, XM_006714344.1:c.12248T>C, XM_017008695.2:c.12209T>C, XM_017008695.1:c.12209T>C, XM_017008697.2:c.12146T>C, XM_017008697.1:c.12146T>C, XM_017008698.2:c.9746T>C, XM_017008698.1:c.9746T>C, XM_011532330.2:c.10766T>C, XM_011532330.1:c.10766T>C, XM_047416254.1:c.12515T>C, XM_047416255.1:c.12512T>C, XM_047416252.1:c.12515T>C, XM_047416256.1:c.12512T>C, XM_047416253.1:c.12515T>C, XM_047416258.1:c.12512T>C, XM_047416262.1:c.12383T>C, XM_047416251.1:c.12515T>C, XM_047416257.1:c.12512T>C, XM_047416260.1:c.12386T>C, XM_047416259.1:c.12386T>C, XM_047416263.1:c.12383T>C, XM_047416261.1:c.12383T>C, XM_047416265.1:c.12347T>C, XM_047416268.1:c.12158T>C, XM_047416266.1:c.12263T>C, XM_047416267.1:c.12200T>C, XM_047416269.1:c.12155T>C, XM_047416270.1:c.12131T>C, XM_047416271.1:c.12095T>C, XM_047416264.1:c.12365T>C, XM_047416272.1:c.11777T>C, XM_047416273.1:c.12515T>C, XM_024454243.1:c.10667T>C, NP_056127.2:p.Leu4084Pro, NP_001371054.1:p.Leu4172Pro, XP_011530622.1:p.Leu4172Pro, XP_011530624.1:p.Leu4171Pro, XP_011530625.1:p.Leu4155Pro, XP_011530626.1:p.Leu4151Pro, XP_011530627.1:p.Leu4137Pro, XP_011530628.1:p.Leu4129Pro, XP_005263339.1:p.Leu4105Pro, XP_005263344.1:p.Leu4084Pro, XP_006714407.1:p.Leu4083Pro, XP_016864184.1:p.Leu4070Pro, XP_016864186.1:p.Leu4049Pro, XP_016864187.1:p.Leu3249Pro, XP_011530632.1:p.Leu3589Pro, XP_047272210.1:p.Leu4172Pro, XP_047272211.1:p.Leu4171Pro, XP_047272208.1:p.Leu4172Pro, XP_047272212.1:p.Leu4171Pro, XP_047272209.1:p.Leu4172Pro, XP_047272214.1:p.Leu4171Pro, XP_047272218.1:p.Leu4128Pro, XP_047272207.1:p.Leu4172Pro, XP_047272213.1:p.Leu4171Pro, XP_047272216.1:p.Leu4129Pro, XP_047272215.1:p.Leu4129Pro, XP_047272219.1:p.Leu4128Pro, XP_047272217.1:p.Leu4128Pro, XP_047272221.1:p.Leu4116Pro, XP_047272224.1:p.Leu4053Pro, XP_047272222.1:p.Leu4088Pro, XP_047272223.1:p.Leu4067Pro, XP_047272225.1:p.Leu4052Pro, XP_047272226.1:p.Leu4044Pro, XP_047272227.1:p.Leu4032Pro, XP_047272220.1:p.Leu4122Pro, XP_047272228.1:p.Leu3926Pro, XP_047272229.1:p.Leu4172Pro, XP_024310011.1:p.Leu3556Pro

                      11.

                      rs1489648743 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        4:122219532 (GRCh38)
                        4:123140687 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:122219531:G:C
                        Gene:
                        KIAA1109 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000004.12:g.122219532G>C, NC_000004.11:g.123140687G>C, NG_015813.2:g.53930G>C, NM_015312.4:c.2440G>C, NM_015312.3:c.2440G>C, NM_001384125.1:c.2440G>C, XM_011532320.4:c.2440G>C, XM_011532320.3:c.2440G>C, XM_011532320.2:c.2440G>C, XM_011532320.1:c.2440G>C, XM_011532322.2:c.2440G>C, XM_011532322.1:c.2440G>C, XM_011532323.2:c.2440G>C, XM_011532323.1:c.2440G>C, XM_011532324.2:c.2440G>C, XM_011532324.1:c.2440G>C, XM_011532325.2:c.2440G>C, XM_011532325.1:c.2440G>C, XM_011532326.2:c.2440G>C, XM_011532326.1:c.2440G>C, XM_005263282.2:c.2440G>C, XM_005263282.1:c.2440G>C, XM_005263287.2:c.2440G>C, XM_005263287.1:c.2440G>C, XM_006714344.2:c.2440G>C, XM_006714344.1:c.2440G>C, XM_017008695.2:c.2440G>C, XM_017008695.1:c.2440G>C, XM_017008697.2:c.2440G>C, XM_017008697.1:c.2440G>C, XM_011532330.2:c.691G>C, XM_011532330.1:c.691G>C, XR_938783.2:n.2815G>C, XR_938783.1:n.2813G>C, XM_017008699.2:c.2440G>C, XM_017008699.1:c.2440G>C, XM_047416254.1:c.2440G>C, XM_047416255.1:c.2440G>C, XM_047416252.1:c.2440G>C, XM_047416256.1:c.2440G>C, XM_047416253.1:c.2440G>C, XM_047416258.1:c.2440G>C, XM_047416262.1:c.2440G>C, XM_047416251.1:c.2440G>C, XM_047416257.1:c.2440G>C, XM_047416260.1:c.2440G>C, XM_047416259.1:c.2440G>C, XM_047416263.1:c.2440G>C, XM_047416261.1:c.2440G>C, XM_047416265.1:c.2440G>C, XM_047416268.1:c.2440G>C, XM_047416266.1:c.2440G>C, XM_047416267.1:c.2440G>C, XM_047416269.1:c.2440G>C, XM_047416270.1:c.2440G>C, XM_047416271.1:c.2440G>C, XM_047416264.1:c.2290G>C, XM_047416272.1:c.1702G>C, XM_047416273.1:c.2440G>C, XM_024454243.1:c.592G>C, XM_047416275.1:c.2440G>C, XM_047416276.1:c.2440G>C, XM_047416277.1:c.2440G>C, NP_056127.2:p.Val814Leu, NP_001371054.1:p.Val814Leu, XP_011530622.1:p.Val814Leu, XP_011530624.1:p.Val814Leu, XP_011530625.1:p.Val814Leu, XP_011530626.1:p.Val814Leu, XP_011530627.1:p.Val814Leu, XP_011530628.1:p.Val814Leu, XP_005263339.1:p.Val814Leu, XP_005263344.1:p.Val814Leu, XP_006714407.1:p.Val814Leu, XP_016864184.1:p.Val814Leu, XP_016864186.1:p.Val814Leu, XP_011530632.1:p.Val231Leu, XP_016864188.1:p.Val814Leu, XP_047272210.1:p.Val814Leu, XP_047272211.1:p.Val814Leu, XP_047272208.1:p.Val814Leu, XP_047272212.1:p.Val814Leu, XP_047272209.1:p.Val814Leu, XP_047272214.1:p.Val814Leu, XP_047272218.1:p.Val814Leu, XP_047272207.1:p.Val814Leu, XP_047272213.1:p.Val814Leu, XP_047272216.1:p.Val814Leu, XP_047272215.1:p.Val814Leu, XP_047272219.1:p.Val814Leu, XP_047272217.1:p.Val814Leu, XP_047272221.1:p.Val814Leu, XP_047272224.1:p.Val814Leu, XP_047272222.1:p.Val814Leu, XP_047272223.1:p.Val814Leu, XP_047272225.1:p.Val814Leu, XP_047272226.1:p.Val814Leu, XP_047272227.1:p.Val814Leu, XP_047272220.1:p.Val764Leu, XP_047272228.1:p.Val568Leu, XP_047272229.1:p.Val814Leu, XP_024310011.1:p.Val198Leu, XP_047272231.1:p.Val814Leu, XP_047272232.1:p.Val814Leu, XP_047272233.1:p.Val814Leu

                        12.

                        rs1489244316 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          4:122328268 (GRCh38)
                          4:123249423 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:122328266:ACA:A
                          Gene:
                          KIAA1109 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          -=0.000004/1 (GnomAD_exomes)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.122328268_122328269del, NC_000004.11:g.123249423_123249424del, NG_015813.2:g.162666_162667del, NM_015312.4:c.11160_11161del, NM_015312.3:c.11160_11161del, NM_001384125.1:c.11424_11425del, XM_011532320.4:c.11424_11425del, XM_011532320.3:c.11424_11425del, XM_011532320.2:c.11424_11425del, XM_011532320.1:c.11424_11425del, XM_011532322.2:c.11421_11422del, XM_011532322.1:c.11421_11422del, XM_011532323.2:c.11373_11374del, XM_011532323.1:c.11373_11374del, XM_011532324.2:c.11361_11362del, XM_011532324.1:c.11361_11362del, XM_011532325.2:c.11424_11425del, XM_011532325.1:c.11424_11425del, XM_011532326.2:c.11295_11296del, XM_011532326.1:c.11295_11296del, XM_005263282.2:c.11223_11224del, XM_005263282.1:c.11223_11224del, XM_005263287.2:c.11160_11161del, XM_005263287.1:c.11160_11161del, XM_006714344.2:c.11157_11158del, XM_006714344.1:c.11157_11158del, XM_017008695.2:c.11223_11224del, XM_017008695.1:c.11223_11224del, XM_017008697.2:c.11160_11161del, XM_017008697.1:c.11160_11161del, XM_017008698.2:c.8655_8656del, XM_017008698.1:c.8655_8656del, XM_011532330.2:c.9675_9676del, XM_011532330.1:c.9675_9676del, XM_047416254.1:c.11424_11425del, XM_047416255.1:c.11421_11422del, XM_047416252.1:c.11424_11425del, XM_047416256.1:c.11421_11422del, XM_047416253.1:c.11424_11425del, XM_047416258.1:c.11421_11422del, XM_047416262.1:c.11292_11293del, XM_047416251.1:c.11424_11425del, XM_047416257.1:c.11421_11422del, XM_047416260.1:c.11295_11296del, XM_047416259.1:c.11295_11296del, XM_047416263.1:c.11292_11293del, XM_047416261.1:c.11292_11293del, XM_047416265.1:c.11361_11362del, XM_047416268.1:c.11172_11173del, XM_047416266.1:c.11172_11173del, XM_047416267.1:c.11109_11110del, XM_047416269.1:c.11169_11170del, XM_047416270.1:c.11040_11041del, XM_047416271.1:c.11109_11110del, XM_047416264.1:c.11274_11275del, XM_047416272.1:c.10686_10687del, XM_047416273.1:c.11424_11425del, XM_024454243.1:c.9576_9577del, XM_047416275.1:c.*19_*20del, XM_047416276.1:c.*19_*20del, XM_047416277.1:c.*19_*20del, NP_056127.2:p.Asp3720fs, NP_001371054.1:p.Asp3808fs, XP_011530622.1:p.Asp3808fs, XP_011530624.1:p.Asp3807fs, XP_011530625.1:p.Asp3791fs, XP_011530626.1:p.Asp3787fs, XP_011530627.1:p.Asp3808fs, XP_011530628.1:p.Asp3765fs, XP_005263339.1:p.Asp3741fs, XP_005263344.1:p.Asp3720fs, XP_006714407.1:p.Asp3719fs, XP_016864184.1:p.Asp3741fs, XP_016864186.1:p.Asp3720fs, XP_016864187.1:p.Asp2885fs, XP_011530632.1:p.Asp3225fs, XP_047272210.1:p.Asp3808fs, XP_047272211.1:p.Asp3807fs, XP_047272208.1:p.Asp3808fs, XP_047272212.1:p.Asp3807fs, XP_047272209.1:p.Asp3808fs, XP_047272214.1:p.Asp3807fs, XP_047272218.1:p.Asp3764fs, XP_047272207.1:p.Asp3808fs, XP_047272213.1:p.Asp3807fs, XP_047272216.1:p.Asp3765fs, XP_047272215.1:p.Asp3765fs, XP_047272219.1:p.Asp3764fs, XP_047272217.1:p.Asp3764fs, XP_047272221.1:p.Asp3787fs, XP_047272224.1:p.Asp3724fs, XP_047272222.1:p.Asp3724fs, XP_047272223.1:p.Asp3703fs, XP_047272225.1:p.Asp3723fs, XP_047272226.1:p.Asp3680fs, XP_047272227.1:p.Asp3703fs, XP_047272220.1:p.Asp3758fs, XP_047272228.1:p.Asp3562fs, XP_047272229.1:p.Asp3808fs, XP_024310011.1:p.Asp3192fs

                          13.

                          rs1488853540 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:122258724 (GRCh38)
                            4:123179879 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:122258723:C:T
                            Gene:
                            KIAA1109 (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000066/1 (ALFA)
                            T=0.000014/2 (GnomAD)
                            T=0.000223/1 (Estonian)
                            HGVS:
                            NC_000004.12:g.122258724C>T, NC_000004.11:g.123179879C>T, NG_015813.2:g.93122C>T, NM_015312.4:c.6643C>T, NM_015312.3:c.6643C>T, NM_001384125.1:c.6643C>T, XM_011532320.4:c.6643C>T, XM_011532320.3:c.6643C>T, XM_011532320.2:c.6643C>T, XM_011532320.1:c.6643C>T, XM_011532322.2:c.6640C>T, XM_011532322.1:c.6640C>T, XM_011532323.2:c.6643C>T, XM_011532323.1:c.6643C>T, XM_011532324.2:c.6643C>T, XM_011532324.1:c.6643C>T, XM_011532325.2:c.6643C>T, XM_011532325.1:c.6643C>T, XM_011532326.2:c.6514C>T, XM_011532326.1:c.6514C>T, XM_005263282.2:c.6643C>T, XM_005263282.1:c.6643C>T, XM_005263287.2:c.6643C>T, XM_005263287.1:c.6643C>T, XM_006714344.2:c.6640C>T, XM_006714344.1:c.6640C>T, XM_017008695.2:c.6643C>T, XM_017008695.1:c.6643C>T, XM_017008697.2:c.6643C>T, XM_017008697.1:c.6643C>T, XM_017008698.2:c.3874C>T, XM_017008698.1:c.3874C>T, XM_011532330.2:c.4894C>T, XM_011532330.1:c.4894C>T, XR_938783.2:n.7018C>T, XR_938783.1:n.7016C>T, XM_017008699.2:c.6643C>T, XM_017008699.1:c.6643C>T, XM_047416254.1:c.6643C>T, XM_047416255.1:c.6640C>T, XM_047416252.1:c.6643C>T, XM_047416256.1:c.6640C>T, XM_047416253.1:c.6643C>T, XM_047416258.1:c.6640C>T, XM_047416262.1:c.6511C>T, XM_047416251.1:c.6643C>T, XM_047416257.1:c.6640C>T, XM_047416260.1:c.6514C>T, XM_047416259.1:c.6514C>T, XM_047416263.1:c.6511C>T, XM_047416261.1:c.6511C>T, XM_047416265.1:c.6643C>T, XM_047416268.1:c.6643C>T, XM_047416266.1:c.6643C>T, XM_047416267.1:c.6643C>T, XM_047416269.1:c.6640C>T, XM_047416270.1:c.6511C>T, XM_047416271.1:c.6643C>T, XM_047416264.1:c.6493C>T, XM_047416272.1:c.5905C>T, XM_047416273.1:c.6643C>T, XM_024454243.1:c.4795C>T, XM_047416275.1:c.6643C>T, XM_047416276.1:c.6643C>T, XM_047416277.1:c.6643C>T

                            14.

                            rs1488609966 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:122352985 (GRCh38)
                              4:123274140 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:122352984:C:T
                              Gene:
                              KIAA1109 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant,missense_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 (TOPMED)
                              HGVS:
                              NC_000004.12:g.122352985C>T, NC_000004.11:g.123274140C>T, NG_015813.2:g.187383C>T, NM_015312.4:c.13931C>T, NM_015312.3:c.13931C>T, NM_001384125.1:c.14195C>T, XM_011532320.4:c.14195C>T, XM_011532320.3:c.14195C>T, XM_011532320.2:c.14195C>T, XM_011532320.1:c.14195C>T, XM_011532322.2:c.14192C>T, XM_011532322.1:c.14192C>T, XM_011532323.2:c.14144C>T, XM_011532323.1:c.14144C>T, XM_011532324.2:c.14132C>T, XM_011532324.1:c.14132C>T, XM_011532325.2:c.14090C>T, XM_011532325.1:c.14090C>T, XM_011532326.2:c.14066C>T, XM_011532326.1:c.14066C>T, XM_005263282.2:c.13994C>T, XM_005263282.1:c.13994C>T, XM_005263287.2:c.13931C>T, XM_005263287.1:c.13931C>T, XM_006714344.2:c.13928C>T, XM_006714344.1:c.13928C>T, XM_017008695.2:c.13889C>T, XM_017008695.1:c.13889C>T, XM_017008697.2:c.13826C>T, XM_017008697.1:c.13826C>T, XM_017008698.2:c.11426C>T, XM_017008698.1:c.11426C>T, XM_011532330.2:c.12446C>T, XM_011532330.1:c.12446C>T, XM_047416254.1:c.14195C>T, XM_047416255.1:c.14192C>T, XM_047416252.1:c.14195C>T, XM_047416256.1:c.14192C>T, XM_047416253.1:c.14195C>T, XM_047416258.1:c.14192C>T, XM_047416262.1:c.14063C>T, XM_047416251.1:c.14195C>T, XM_047416257.1:c.14192C>T, XM_047416260.1:c.14066C>T, XM_047416259.1:c.14066C>T, XM_047416263.1:c.14063C>T, XM_047416261.1:c.14063C>T, XM_047416265.1:c.14027C>T, XM_047416268.1:c.13838C>T, XM_047416266.1:c.13943C>T, XM_047416267.1:c.13880C>T, XM_047416269.1:c.13835C>T, XM_047416270.1:c.13811C>T, XM_047416271.1:c.13775C>T, XM_047416264.1:c.14045C>T, XM_047416272.1:c.13457C>T, XM_047416273.1:c.*84C>T, XM_024454243.1:c.12347C>T, NP_056127.2:p.Pro4644Leu, NP_001371054.1:p.Pro4732Leu, XP_011530622.1:p.Pro4732Leu, XP_011530624.1:p.Pro4731Leu, XP_011530625.1:p.Pro4715Leu, XP_011530626.1:p.Pro4711Leu, XP_011530627.1:p.Pro4697Leu, XP_011530628.1:p.Pro4689Leu, XP_005263339.1:p.Pro4665Leu, XP_005263344.1:p.Pro4644Leu, XP_006714407.1:p.Pro4643Leu, XP_016864184.1:p.Pro4630Leu, XP_016864186.1:p.Pro4609Leu, XP_016864187.1:p.Pro3809Leu, XP_011530632.1:p.Pro4149Leu, XP_047272210.1:p.Pro4732Leu, XP_047272211.1:p.Pro4731Leu, XP_047272208.1:p.Pro4732Leu, XP_047272212.1:p.Pro4731Leu, XP_047272209.1:p.Pro4732Leu, XP_047272214.1:p.Pro4731Leu, XP_047272218.1:p.Pro4688Leu, XP_047272207.1:p.Pro4732Leu, XP_047272213.1:p.Pro4731Leu, XP_047272216.1:p.Pro4689Leu, XP_047272215.1:p.Pro4689Leu, XP_047272219.1:p.Pro4688Leu, XP_047272217.1:p.Pro4688Leu, XP_047272221.1:p.Pro4676Leu, XP_047272224.1:p.Pro4613Leu, XP_047272222.1:p.Pro4648Leu, XP_047272223.1:p.Pro4627Leu, XP_047272225.1:p.Pro4612Leu, XP_047272226.1:p.Pro4604Leu, XP_047272227.1:p.Pro4592Leu, XP_047272220.1:p.Pro4682Leu, XP_047272228.1:p.Pro4486Leu, XP_024310011.1:p.Pro4116Leu

                              15.

                              rs1488258387 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:122350022 (GRCh38)
                                4:123271177 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:122350021:C:T
                                Gene:
                                KIAA1109 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                HGVS:
                                NC_000004.12:g.122350022C>T, NC_000004.11:g.123271177C>T, NG_015813.2:g.184420C>T, NM_015312.4:c.13797C>T, NM_015312.3:c.13797C>T, NM_001384125.1:c.14061C>T, XM_011532320.4:c.14061C>T, XM_011532320.3:c.14061C>T, XM_011532320.2:c.14061C>T, XM_011532320.1:c.14061C>T, XM_011532322.2:c.14058C>T, XM_011532322.1:c.14058C>T, XM_011532323.2:c.14010C>T, XM_011532323.1:c.14010C>T, XM_011532324.2:c.13998C>T, XM_011532324.1:c.13998C>T, XM_011532325.2:c.13956C>T, XM_011532325.1:c.13956C>T, XM_011532326.2:c.13932C>T, XM_011532326.1:c.13932C>T, XM_005263282.2:c.13860C>T, XM_005263282.1:c.13860C>T, XM_005263287.2:c.13797C>T, XM_005263287.1:c.13797C>T, XM_006714344.2:c.13794C>T, XM_006714344.1:c.13794C>T, XM_017008695.2:c.13755C>T, XM_017008695.1:c.13755C>T, XM_017008697.2:c.13692C>T, XM_017008697.1:c.13692C>T, XM_017008698.2:c.11292C>T, XM_017008698.1:c.11292C>T, XM_011532330.2:c.12312C>T, XM_011532330.1:c.12312C>T, XM_047416254.1:c.14061C>T, XM_047416255.1:c.14058C>T, XM_047416252.1:c.14061C>T, XM_047416256.1:c.14058C>T, XM_047416253.1:c.14061C>T, XM_047416258.1:c.14058C>T, XM_047416262.1:c.13929C>T, XM_047416251.1:c.14061C>T, XM_047416257.1:c.14058C>T, XM_047416260.1:c.13932C>T, XM_047416259.1:c.13932C>T, XM_047416263.1:c.13929C>T, XM_047416261.1:c.13929C>T, XM_047416265.1:c.13893C>T, XM_047416268.1:c.13704C>T, XM_047416266.1:c.13809C>T, XM_047416267.1:c.13746C>T, XM_047416269.1:c.13701C>T, XM_047416270.1:c.13677C>T, XM_047416271.1:c.13641C>T, XM_047416264.1:c.13911C>T, XM_047416272.1:c.13323C>T, XM_047416273.1:c.14061C>T, XM_024454243.1:c.12213C>T

                                16.

                                rs1488119542 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:122257342 (GRCh38)
                                  4:123178497 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:122257341:G:A
                                  Gene:
                                  KIAA1109 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.122257342G>A, NC_000004.11:g.123178497G>A, NG_015813.2:g.91740G>A, NM_015312.4:c.6466G>A, NM_015312.3:c.6466G>A, NM_001384125.1:c.6466G>A, XM_011532320.4:c.6466G>A, XM_011532320.3:c.6466G>A, XM_011532320.2:c.6466G>A, XM_011532320.1:c.6466G>A, XM_011532322.2:c.6463G>A, XM_011532322.1:c.6463G>A, XM_011532323.2:c.6466G>A, XM_011532323.1:c.6466G>A, XM_011532324.2:c.6466G>A, XM_011532324.1:c.6466G>A, XM_011532325.2:c.6466G>A, XM_011532325.1:c.6466G>A, XM_011532326.2:c.6337G>A, XM_011532326.1:c.6337G>A, XM_005263282.2:c.6466G>A, XM_005263282.1:c.6466G>A, XM_005263287.2:c.6466G>A, XM_005263287.1:c.6466G>A, XM_006714344.2:c.6463G>A, XM_006714344.1:c.6463G>A, XM_017008695.2:c.6466G>A, XM_017008695.1:c.6466G>A, XM_017008697.2:c.6466G>A, XM_017008697.1:c.6466G>A, XM_017008698.2:c.3697G>A, XM_017008698.1:c.3697G>A, XM_011532330.2:c.4717G>A, XM_011532330.1:c.4717G>A, XR_938783.2:n.6841G>A, XR_938783.1:n.6839G>A, XM_017008699.2:c.6466G>A, XM_017008699.1:c.6466G>A, XM_047416254.1:c.6466G>A, XM_047416255.1:c.6463G>A, XM_047416252.1:c.6466G>A, XM_047416256.1:c.6463G>A, XM_047416253.1:c.6466G>A, XM_047416258.1:c.6463G>A, XM_047416262.1:c.6334G>A, XM_047416251.1:c.6466G>A, XM_047416257.1:c.6463G>A, XM_047416260.1:c.6337G>A, XM_047416259.1:c.6337G>A, XM_047416263.1:c.6334G>A, XM_047416261.1:c.6334G>A, XM_047416265.1:c.6466G>A, XM_047416268.1:c.6466G>A, XM_047416266.1:c.6466G>A, XM_047416267.1:c.6466G>A, XM_047416269.1:c.6463G>A, XM_047416270.1:c.6334G>A, XM_047416271.1:c.6466G>A, XM_047416264.1:c.6316G>A, XM_047416272.1:c.5728G>A, XM_047416273.1:c.6466G>A, XM_024454243.1:c.4618G>A, XM_047416275.1:c.6466G>A, XM_047416276.1:c.6466G>A, XM_047416277.1:c.6466G>A, NP_056127.2:p.Ala2156Thr, NP_001371054.1:p.Ala2156Thr, XP_011530622.1:p.Ala2156Thr, XP_011530624.1:p.Ala2155Thr, XP_011530625.1:p.Ala2156Thr, XP_011530626.1:p.Ala2156Thr, XP_011530627.1:p.Ala2156Thr, XP_011530628.1:p.Ala2113Thr, XP_005263339.1:p.Ala2156Thr, XP_005263344.1:p.Ala2156Thr, XP_006714407.1:p.Ala2155Thr, XP_016864184.1:p.Ala2156Thr, XP_016864186.1:p.Ala2156Thr, XP_016864187.1:p.Ala1233Thr, XP_011530632.1:p.Ala1573Thr, XP_016864188.1:p.Ala2156Thr, XP_047272210.1:p.Ala2156Thr, XP_047272211.1:p.Ala2155Thr, XP_047272208.1:p.Ala2156Thr, XP_047272212.1:p.Ala2155Thr, XP_047272209.1:p.Ala2156Thr, XP_047272214.1:p.Ala2155Thr, XP_047272218.1:p.Ala2112Thr, XP_047272207.1:p.Ala2156Thr, XP_047272213.1:p.Ala2155Thr, XP_047272216.1:p.Ala2113Thr, XP_047272215.1:p.Ala2113Thr, XP_047272219.1:p.Ala2112Thr, XP_047272217.1:p.Ala2112Thr, XP_047272221.1:p.Ala2156Thr, XP_047272224.1:p.Ala2156Thr, XP_047272222.1:p.Ala2156Thr, XP_047272223.1:p.Ala2156Thr, XP_047272225.1:p.Ala2155Thr, XP_047272226.1:p.Ala2112Thr, XP_047272227.1:p.Ala2156Thr, XP_047272220.1:p.Ala2106Thr, XP_047272228.1:p.Ala1910Thr, XP_047272229.1:p.Ala2156Thr, XP_024310011.1:p.Ala1540Thr, XP_047272231.1:p.Ala2156Thr, XP_047272232.1:p.Ala2156Thr, XP_047272233.1:p.Ala2156Thr

                                  17.

                                  rs1487760264 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:122336931 (GRCh38)
                                    4:123258086 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:122336930:A:G
                                    Gene:
                                    KIAA1109 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_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_000004.12:g.122336931A>G, NC_000004.11:g.123258086A>G, NG_015813.2:g.171329A>G, NM_015312.4:c.12061A>G, NM_015312.3:c.12061A>G, NM_001384125.1:c.12325A>G, XM_011532320.4:c.12325A>G, XM_011532320.3:c.12325A>G, XM_011532320.2:c.12325A>G, XM_011532320.1:c.12325A>G, XM_011532322.2:c.12322A>G, XM_011532322.1:c.12322A>G, XM_011532323.2:c.12274A>G, XM_011532323.1:c.12274A>G, XM_011532324.2:c.12262A>G, XM_011532324.1:c.12262A>G, XM_011532325.2:c.12220A>G, XM_011532325.1:c.12220A>G, XM_011532326.2:c.12196A>G, XM_011532326.1:c.12196A>G, XM_005263282.2:c.12124A>G, XM_005263282.1:c.12124A>G, XM_005263287.2:c.12061A>G, XM_005263287.1:c.12061A>G, XM_006714344.2:c.12058A>G, XM_006714344.1:c.12058A>G, XM_017008695.2:c.12019A>G, XM_017008695.1:c.12019A>G, XM_017008697.2:c.11956A>G, XM_017008697.1:c.11956A>G, XM_017008698.2:c.9556A>G, XM_017008698.1:c.9556A>G, XM_011532330.2:c.10576A>G, XM_011532330.1:c.10576A>G, XM_047416254.1:c.12325A>G, XM_047416255.1:c.12322A>G, XM_047416252.1:c.12325A>G, XM_047416256.1:c.12322A>G, XM_047416253.1:c.12325A>G, XM_047416258.1:c.12322A>G, XM_047416262.1:c.12193A>G, XM_047416251.1:c.12325A>G, XM_047416257.1:c.12322A>G, XM_047416260.1:c.12196A>G, XM_047416259.1:c.12196A>G, XM_047416263.1:c.12193A>G, XM_047416261.1:c.12193A>G, XM_047416265.1:c.12157A>G, XM_047416268.1:c.11968A>G, XM_047416266.1:c.12073A>G, XM_047416267.1:c.12010A>G, XM_047416269.1:c.11965A>G, XM_047416270.1:c.11941A>G, XM_047416271.1:c.11905A>G, XM_047416264.1:c.12175A>G, XM_047416272.1:c.11587A>G, XM_047416273.1:c.12325A>G, XM_024454243.1:c.10477A>G, NP_056127.2:p.Met4021Val, NP_001371054.1:p.Met4109Val, XP_011530622.1:p.Met4109Val, XP_011530624.1:p.Met4108Val, XP_011530625.1:p.Met4092Val, XP_011530626.1:p.Met4088Val, XP_011530627.1:p.Met4074Val, XP_011530628.1:p.Met4066Val, XP_005263339.1:p.Met4042Val, XP_005263344.1:p.Met4021Val, XP_006714407.1:p.Met4020Val, XP_016864184.1:p.Met4007Val, XP_016864186.1:p.Met3986Val, XP_016864187.1:p.Met3186Val, XP_011530632.1:p.Met3526Val, XP_047272210.1:p.Met4109Val, XP_047272211.1:p.Met4108Val, XP_047272208.1:p.Met4109Val, XP_047272212.1:p.Met4108Val, XP_047272209.1:p.Met4109Val, XP_047272214.1:p.Met4108Val, XP_047272218.1:p.Met4065Val, XP_047272207.1:p.Met4109Val, XP_047272213.1:p.Met4108Val, XP_047272216.1:p.Met4066Val, XP_047272215.1:p.Met4066Val, XP_047272219.1:p.Met4065Val, XP_047272217.1:p.Met4065Val, XP_047272221.1:p.Met4053Val, XP_047272224.1:p.Met3990Val, XP_047272222.1:p.Met4025Val, XP_047272223.1:p.Met4004Val, XP_047272225.1:p.Met3989Val, XP_047272226.1:p.Met3981Val, XP_047272227.1:p.Met3969Val, XP_047272220.1:p.Met4059Val, XP_047272228.1:p.Met3863Val, XP_047272229.1:p.Met4109Val, XP_024310011.1:p.Met3493Val

                                    18.

                                    rs1487707590 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:122211055 (GRCh38)
                                      4:123132210 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:122211054:C:T
                                      Gene:
                                      KIAA1109 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.122211055C>T, NC_000004.11:g.123132210C>T, NG_015813.2:g.45453C>T, NM_015312.4:c.2207C>T, NM_015312.3:c.2207C>T, NM_001384125.1:c.2207C>T, XM_011532320.4:c.2207C>T, XM_011532320.3:c.2207C>T, XM_011532320.2:c.2207C>T, XM_011532320.1:c.2207C>T, XM_011532322.2:c.2207C>T, XM_011532322.1:c.2207C>T, XM_011532323.2:c.2207C>T, XM_011532323.1:c.2207C>T, XM_011532324.2:c.2207C>T, XM_011532324.1:c.2207C>T, XM_011532325.2:c.2207C>T, XM_011532325.1:c.2207C>T, XM_011532326.2:c.2207C>T, XM_011532326.1:c.2207C>T, XM_005263282.2:c.2207C>T, XM_005263282.1:c.2207C>T, XM_005263287.2:c.2207C>T, XM_005263287.1:c.2207C>T, XM_006714344.2:c.2207C>T, XM_006714344.1:c.2207C>T, XM_017008695.2:c.2207C>T, XM_017008695.1:c.2207C>T, XM_017008697.2:c.2207C>T, XM_017008697.1:c.2207C>T, XM_011532330.2:c.458C>T, XM_011532330.1:c.458C>T, XR_938783.2:n.2582C>T, XR_938783.1:n.2580C>T, XM_017008699.2:c.2207C>T, XM_017008699.1:c.2207C>T, XM_047416254.1:c.2207C>T, XM_047416255.1:c.2207C>T, XM_047416252.1:c.2207C>T, XM_047416256.1:c.2207C>T, XM_047416253.1:c.2207C>T, XM_047416258.1:c.2207C>T, XM_047416262.1:c.2207C>T, XM_047416251.1:c.2207C>T, XM_047416257.1:c.2207C>T, XM_047416260.1:c.2207C>T, XM_047416259.1:c.2207C>T, XM_047416263.1:c.2207C>T, XM_047416261.1:c.2207C>T, XM_047416265.1:c.2207C>T, XM_047416268.1:c.2207C>T, XM_047416266.1:c.2207C>T, XM_047416267.1:c.2207C>T, XM_047416269.1:c.2207C>T, XM_047416270.1:c.2207C>T, XM_047416271.1:c.2207C>T, XM_047416264.1:c.2057C>T, XM_047416272.1:c.1469C>T, XM_047416273.1:c.2207C>T, XM_024454243.1:c.359C>T, XM_047416275.1:c.2207C>T, XM_047416276.1:c.2207C>T, XM_047416277.1:c.2207C>T, NP_056127.2:p.Thr736Ile, NP_001371054.1:p.Thr736Ile, XP_011530622.1:p.Thr736Ile, XP_011530624.1:p.Thr736Ile, XP_011530625.1:p.Thr736Ile, XP_011530626.1:p.Thr736Ile, XP_011530627.1:p.Thr736Ile, XP_011530628.1:p.Thr736Ile, XP_005263339.1:p.Thr736Ile, XP_005263344.1:p.Thr736Ile, XP_006714407.1:p.Thr736Ile, XP_016864184.1:p.Thr736Ile, XP_016864186.1:p.Thr736Ile, XP_011530632.1:p.Thr153Ile, XP_016864188.1:p.Thr736Ile, XP_047272210.1:p.Thr736Ile, XP_047272211.1:p.Thr736Ile, XP_047272208.1:p.Thr736Ile, XP_047272212.1:p.Thr736Ile, XP_047272209.1:p.Thr736Ile, XP_047272214.1:p.Thr736Ile, XP_047272218.1:p.Thr736Ile, XP_047272207.1:p.Thr736Ile, XP_047272213.1:p.Thr736Ile, XP_047272216.1:p.Thr736Ile, XP_047272215.1:p.Thr736Ile, XP_047272219.1:p.Thr736Ile, XP_047272217.1:p.Thr736Ile, XP_047272221.1:p.Thr736Ile, XP_047272224.1:p.Thr736Ile, XP_047272222.1:p.Thr736Ile, XP_047272223.1:p.Thr736Ile, XP_047272225.1:p.Thr736Ile, XP_047272226.1:p.Thr736Ile, XP_047272227.1:p.Thr736Ile, XP_047272220.1:p.Thr686Ile, XP_047272228.1:p.Thr490Ile, XP_047272229.1:p.Thr736Ile, XP_024310011.1:p.Thr120Ile, XP_047272231.1:p.Thr736Ile, XP_047272232.1:p.Thr736Ile, XP_047272233.1:p.Thr736Ile

                                      19.

                                      rs1487633025 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        4:122239739 (GRCh38)
                                        4:123160894 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:122239738:C:G,NC_000004.12:122239738:C:T
                                        Gene:
                                        KIAA1109 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.122239739C>G, NC_000004.12:g.122239739C>T, NC_000004.11:g.123160894C>G, NC_000004.11:g.123160894C>T, NG_015813.2:g.74137C>G, NG_015813.2:g.74137C>T, NM_015312.4:c.4057C>G, NM_015312.4:c.4057C>T, NM_015312.3:c.4057C>G, NM_015312.3:c.4057C>T, NM_001384125.1:c.4057C>G, NM_001384125.1:c.4057C>T, XM_011532320.4:c.4057C>G, XM_011532320.4:c.4057C>T, XM_011532320.3:c.4057C>G, XM_011532320.3:c.4057C>T, XM_011532320.2:c.4057C>G, XM_011532320.2:c.4057C>T, XM_011532320.1:c.4057C>G, XM_011532320.1:c.4057C>T, XM_011532322.2:c.4054C>G, XM_011532322.2:c.4054C>T, XM_011532322.1:c.4054C>G, XM_011532322.1:c.4054C>T, XM_011532323.2:c.4057C>G, XM_011532323.2:c.4057C>T, XM_011532323.1:c.4057C>G, XM_011532323.1:c.4057C>T, XM_011532324.2:c.4057C>G, XM_011532324.2:c.4057C>T, XM_011532324.1:c.4057C>G, XM_011532324.1:c.4057C>T, XM_011532325.2:c.4057C>G, XM_011532325.2:c.4057C>T, XM_011532325.1:c.4057C>G, XM_011532325.1:c.4057C>T, XM_011532326.2:c.3928C>G, XM_011532326.2:c.3928C>T, XM_011532326.1:c.3928C>G, XM_011532326.1:c.3928C>T, XM_005263282.2:c.4057C>G, XM_005263282.2:c.4057C>T, XM_005263282.1:c.4057C>G, XM_005263282.1:c.4057C>T, XM_005263287.2:c.4057C>G, XM_005263287.2:c.4057C>T, XM_005263287.1:c.4057C>G, XM_005263287.1:c.4057C>T, XM_006714344.2:c.4054C>G, XM_006714344.2:c.4054C>T, XM_006714344.1:c.4054C>G, XM_006714344.1:c.4054C>T, XM_017008695.2:c.4057C>G, XM_017008695.2:c.4057C>T, XM_017008695.1:c.4057C>G, XM_017008695.1:c.4057C>T, XM_017008697.2:c.4057C>G, XM_017008697.2:c.4057C>T, XM_017008697.1:c.4057C>G, XM_017008697.1:c.4057C>T, XM_017008698.2:c.1288C>G, XM_017008698.2:c.1288C>T, XM_017008698.1:c.1288C>G, XM_017008698.1:c.1288C>T, XM_011532330.2:c.2308C>G, XM_011532330.2:c.2308C>T, XM_011532330.1:c.2308C>G, XM_011532330.1:c.2308C>T, XR_938783.2:n.4432C>G, XR_938783.2:n.4432C>T, XR_938783.1:n.4430C>G, XR_938783.1:n.4430C>T, XM_017008699.2:c.4057C>G, XM_017008699.2:c.4057C>T, XM_017008699.1:c.4057C>G, XM_017008699.1:c.4057C>T, XM_047416254.1:c.4057C>G, XM_047416254.1:c.4057C>T, XM_047416255.1:c.4054C>G, XM_047416255.1:c.4054C>T, XM_047416252.1:c.4057C>G, XM_047416252.1:c.4057C>T, XM_047416256.1:c.4054C>G, XM_047416256.1:c.4054C>T, XM_047416253.1:c.4057C>G, XM_047416253.1:c.4057C>T, XM_047416258.1:c.4054C>G, XM_047416258.1:c.4054C>T, XM_047416262.1:c.3925C>G, XM_047416262.1:c.3925C>T, XM_047416251.1:c.4057C>G, XM_047416251.1:c.4057C>T, XM_047416257.1:c.4054C>G, XM_047416257.1:c.4054C>T, XM_047416260.1:c.3928C>G, XM_047416260.1:c.3928C>T, XM_047416259.1:c.3928C>G, XM_047416259.1:c.3928C>T, XM_047416263.1:c.3925C>G, XM_047416263.1:c.3925C>T, XM_047416261.1:c.3925C>G, XM_047416261.1:c.3925C>T, XM_047416265.1:c.4057C>G, XM_047416265.1:c.4057C>T, XM_047416268.1:c.4057C>G, XM_047416268.1:c.4057C>T, XM_047416266.1:c.4057C>G, XM_047416266.1:c.4057C>T, XM_047416267.1:c.4057C>G, XM_047416267.1:c.4057C>T, XM_047416269.1:c.4054C>G, XM_047416269.1:c.4054C>T, XM_047416270.1:c.3925C>G, XM_047416270.1:c.3925C>T, XM_047416271.1:c.4057C>G, XM_047416271.1:c.4057C>T, XM_047416264.1:c.3907C>G, XM_047416264.1:c.3907C>T, XM_047416272.1:c.3319C>G, XM_047416272.1:c.3319C>T, XM_047416273.1:c.4057C>G, XM_047416273.1:c.4057C>T, XM_024454243.1:c.2209C>G, XM_024454243.1:c.2209C>T, XM_047416275.1:c.4057C>G, XM_047416275.1:c.4057C>T, XM_047416276.1:c.4057C>G, XM_047416276.1:c.4057C>T, XM_047416277.1:c.4057C>G, XM_047416277.1:c.4057C>T, NP_056127.2:p.Leu1353Val, NP_001371054.1:p.Leu1353Val, XP_011530622.1:p.Leu1353Val, XP_011530624.1:p.Leu1352Val, XP_011530625.1:p.Leu1353Val, XP_011530626.1:p.Leu1353Val, XP_011530627.1:p.Leu1353Val, XP_011530628.1:p.Leu1310Val, XP_005263339.1:p.Leu1353Val, XP_005263344.1:p.Leu1353Val, XP_006714407.1:p.Leu1352Val, XP_016864184.1:p.Leu1353Val, XP_016864186.1:p.Leu1353Val, XP_016864187.1:p.Leu430Val, XP_011530632.1:p.Leu770Val, XP_016864188.1:p.Leu1353Val, XP_047272210.1:p.Leu1353Val, XP_047272211.1:p.Leu1352Val, XP_047272208.1:p.Leu1353Val, XP_047272212.1:p.Leu1352Val, XP_047272209.1:p.Leu1353Val, XP_047272214.1:p.Leu1352Val, XP_047272218.1:p.Leu1309Val, XP_047272207.1:p.Leu1353Val, XP_047272213.1:p.Leu1352Val, XP_047272216.1:p.Leu1310Val, XP_047272215.1:p.Leu1310Val, XP_047272219.1:p.Leu1309Val, XP_047272217.1:p.Leu1309Val, XP_047272221.1:p.Leu1353Val, XP_047272224.1:p.Leu1353Val, XP_047272222.1:p.Leu1353Val, XP_047272223.1:p.Leu1353Val, XP_047272225.1:p.Leu1352Val, XP_047272226.1:p.Leu1309Val, XP_047272227.1:p.Leu1353Val, XP_047272220.1:p.Leu1303Val, XP_047272228.1:p.Leu1107Val, XP_047272229.1:p.Leu1353Val, XP_024310011.1:p.Leu737Val, XP_047272231.1:p.Leu1353Val, XP_047272232.1:p.Leu1353Val, XP_047272233.1:p.Leu1353Val

                                        20.

                                        rs1487554899 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          4:122362049 (GRCh38)
                                          4:123283204 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:122362048:A:C
                                          Gene:
                                          KIAA1109 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000004.12:g.122362049A>C, NC_000004.11:g.123283204A>C, NG_015813.2:g.196447A>C, NM_015312.4:c.14820A>C, NM_015312.3:c.14820A>C, NM_001384125.1:c.15084A>C, XM_011532320.4:c.15084A>C, XM_011532320.3:c.15084A>C, XM_011532320.2:c.15084A>C, XM_011532320.1:c.15084A>C, XM_011532322.2:c.15081A>C, XM_011532322.1:c.15081A>C, XM_011532323.2:c.15033A>C, XM_011532323.1:c.15033A>C, XM_011532324.2:c.15021A>C, XM_011532324.1:c.15021A>C, XM_011532325.2:c.14979A>C, XM_011532325.1:c.14979A>C, XM_011532326.2:c.14955A>C, XM_011532326.1:c.14955A>C, XM_005263282.2:c.14883A>C, XM_005263282.1:c.14883A>C, XM_005263287.2:c.14820A>C, XM_005263287.1:c.14820A>C, XM_006714344.2:c.14817A>C, XM_006714344.1:c.14817A>C, XM_017008695.2:c.14778A>C, XM_017008695.1:c.14778A>C, XM_017008697.2:c.14715A>C, XM_017008697.1:c.14715A>C, XM_017008698.2:c.12315A>C, XM_017008698.1:c.12315A>C, XM_011532330.2:c.13335A>C, XM_011532330.1:c.13335A>C, XM_047416254.1:c.15084A>C, XM_047416255.1:c.15081A>C, XM_047416252.1:c.15084A>C, XM_047416256.1:c.15081A>C, XM_047416253.1:c.15084A>C, XM_047416258.1:c.15081A>C, XM_047416262.1:c.14952A>C, XM_047416251.1:c.15084A>C, XM_047416257.1:c.15081A>C, XM_047416260.1:c.14955A>C, XM_047416259.1:c.14955A>C, XM_047416263.1:c.14952A>C, XM_047416261.1:c.14952A>C, XM_047416265.1:c.14916A>C, XM_047416268.1:c.14727A>C, XM_047416266.1:c.14832A>C, XM_047416267.1:c.14769A>C, XM_047416269.1:c.14724A>C, XM_047416270.1:c.14700A>C, XM_047416271.1:c.14664A>C, XM_047416264.1:c.14934A>C, XM_047416272.1:c.14346A>C, XM_024454243.1:c.13236A>C

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