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Items: 1 to 20 of 1501

1.

rs1489353428 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:15723719 (GRCh38)
    9:15723717 (GRCh37)
    Canonical SPDI:
    NC_000009.12:15723718:G:A
    Gene:
    CCDC171 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.15723719G>A, NC_000009.11:g.15723717G>A, NG_052634.1:g.175846G>A, NM_173550.4:c.1464G>A, NM_173550.3:c.1464G>A, NM_173550.2:c.1464G>A, NM_001348002.2:c.1209G>A, NM_001348002.1:c.1209G>A, NM_001355547.1:c.1488G>A, XM_005251399.5:c.1488G>A, XM_005251399.4:c.1488G>A, XM_005251399.3:c.1488G>A, XM_005251399.2:c.1488G>A, XM_005251399.1:c.1488G>A, XM_005251398.5:c.1488G>A, XM_005251398.4:c.1488G>A, XM_005251398.3:c.1488G>A, XM_005251398.2:c.1488G>A, XM_005251398.1:c.1488G>A, XM_011517791.4:c.1356G>A, XM_011517791.3:c.1356G>A, XM_011517791.2:c.1356G>A, XM_011517791.1:c.1356G>A, XM_011517796.4:c.1017G>A, XM_011517796.3:c.1017G>A, XM_011517796.2:c.1017G>A, XM_011517796.1:c.1017G>A, XR_001746229.3:n.1859G>A, XR_001746229.2:n.1958G>A, XR_001746229.1:n.1924G>A, XM_017014433.3:c.1488G>A, XM_017014433.2:c.1488G>A, XM_017014433.1:c.1488G>A, XM_017014442.3:c.1488G>A, XM_017014442.2:c.1488G>A, XM_017014442.1:c.1488G>A, XM_017014431.3:c.1488G>A, XM_017014431.2:c.1488G>A, XM_017014431.1:c.1488G>A, XM_011517788.3:c.1488G>A, XM_011517788.2:c.1488G>A, XM_011517788.1:c.1488G>A, XM_017014434.3:c.1488G>A, XM_017014434.2:c.1488G>A, XM_017014434.1:c.1488G>A, XM_017014435.3:c.1488G>A, XM_017014435.2:c.1488G>A, XM_017014435.1:c.1488G>A, XM_005251397.3:c.1488G>A, XM_005251397.2:c.1488G>A, XM_005251397.1:c.1488G>A, XR_001746227.3:n.1859G>A, XR_001746227.2:n.1958G>A, XR_001746227.1:n.1925G>A, XM_017014437.3:c.1488G>A, XM_017014437.2:c.1488G>A, XM_017014437.1:c.1488G>A, XM_017014438.3:c.1488G>A, XM_017014438.2:c.1488G>A, XM_017014438.1:c.1488G>A, XR_001746228.3:n.1859G>A, XR_001746228.2:n.1958G>A, XR_001746228.1:n.1925G>A, XM_017014436.3:c.1488G>A, XM_017014436.2:c.1488G>A, XM_017014436.1:c.1488G>A, XM_017014432.3:c.1488G>A, XM_017014432.2:c.1488G>A, XM_017014432.1:c.1488G>A, XM_017014440.2:c.1209G>A, XM_017014440.1:c.1209G>A, XM_017014443.2:c.933G>A, XM_017014443.1:c.933G>A, XM_047422939.1:c.1356G>A, XR_007061262.1:n.1859G>A, XM_047422934.1:c.1356G>A, XM_047422930.1:c.1488G>A, XM_047422932.1:c.1356G>A, XM_047422935.1:c.1356G>A, XM_047422936.1:c.1356G>A, XM_047422938.1:c.1356G>A, XM_047422933.1:c.1488G>A, XM_047422931.1:c.1356G>A, XM_047422937.1:c.1356G>A, XR_007061261.1:n.1859G>A

    2.

    rs1489336531 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      9:15578949 (GRCh38)
      9:15578947 (GRCh37)
      Canonical SPDI:
      NC_000009.12:15578948:A:G
      Gene:
      CCDC171 (Varview)
      Functional Consequence:
      missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.15578949A>G, NC_000009.11:g.15578947A>G, NG_052634.1:g.31076A>G, NM_173550.4:c.278A>G, NM_173550.3:c.278A>G, NM_173550.2:c.278A>G, NM_001348002.2:c.-164A>G, NM_001348002.1:c.-164A>G, NM_001355547.1:c.278A>G, XM_005251399.5:c.278A>G, XM_005251399.4:c.278A>G, XM_005251399.3:c.278A>G, XM_005251399.2:c.278A>G, XM_005251399.1:c.278A>G, XM_005251398.5:c.278A>G, XM_005251398.4:c.278A>G, XM_005251398.3:c.278A>G, XM_005251398.2:c.278A>G, XM_005251398.1:c.278A>G, XM_011517791.4:c.278A>G, XM_011517791.3:c.278A>G, XM_011517791.2:c.278A>G, XM_011517791.1:c.278A>G, XM_011517796.4:c.-194A>G, XM_011517796.3:c.-194A>G, XM_011517796.2:c.-194A>G, XM_011517796.1:c.-194A>G, XR_001746229.3:n.649A>G, XR_001746229.2:n.748A>G, XR_001746229.1:n.714A>G, XM_017014433.3:c.278A>G, XM_017014433.2:c.278A>G, XM_017014433.1:c.278A>G, XM_017014442.3:c.278A>G, XM_017014442.2:c.278A>G, XM_017014442.1:c.278A>G, XM_017014431.3:c.278A>G, XM_017014431.2:c.278A>G, XM_017014431.1:c.278A>G, XM_011517788.3:c.278A>G, XM_011517788.2:c.278A>G, XM_011517788.1:c.278A>G, XM_017014434.3:c.278A>G, XM_017014434.2:c.278A>G, XM_017014434.1:c.278A>G, XM_017014435.3:c.278A>G, XM_017014435.2:c.278A>G, XM_017014435.1:c.278A>G, XM_005251397.3:c.278A>G, XM_005251397.2:c.278A>G, XM_005251397.1:c.278A>G, XR_001746227.3:n.649A>G, XR_001746227.2:n.748A>G, XR_001746227.1:n.715A>G, XM_017014437.3:c.278A>G, XM_017014437.2:c.278A>G, XM_017014437.1:c.278A>G, XM_017014438.3:c.278A>G, XM_017014438.2:c.278A>G, XM_017014438.1:c.278A>G, XR_001746228.3:n.649A>G, XR_001746228.2:n.748A>G, XR_001746228.1:n.715A>G, XM_017014436.3:c.278A>G, XM_017014436.2:c.278A>G, XM_017014436.1:c.278A>G, XM_017014432.3:c.278A>G, XM_017014432.2:c.278A>G, XM_017014432.1:c.278A>G, XM_017014440.2:c.-134A>G, XM_017014440.1:c.-134A>G, XM_047422939.1:c.278A>G, XR_007061262.1:n.649A>G, XM_047422934.1:c.278A>G, XM_047422930.1:c.278A>G, XM_047422932.1:c.278A>G, XM_047422935.1:c.278A>G, XM_047422936.1:c.278A>G, XM_047422938.1:c.278A>G, XM_047422933.1:c.278A>G, XM_047422931.1:c.278A>G, XM_047422937.1:c.278A>G, XR_007061261.1:n.649A>G, NP_775821.2:p.Lys93Arg, NP_001342476.1:p.Lys93Arg, XP_005251456.1:p.Lys93Arg, XP_005251455.1:p.Lys93Arg, XP_011516093.1:p.Lys93Arg, XP_016869922.1:p.Lys93Arg, XP_016869931.1:p.Lys93Arg, XP_016869920.1:p.Lys93Arg, XP_011516090.1:p.Lys93Arg, XP_016869923.1:p.Lys93Arg, XP_016869924.1:p.Lys93Arg, XP_005251454.1:p.Lys93Arg, XP_016869926.1:p.Lys93Arg, XP_016869927.1:p.Lys93Arg, XP_016869925.1:p.Lys93Arg, XP_016869921.1:p.Lys93Arg, XP_047278895.1:p.Lys93Arg, XP_047278890.1:p.Lys93Arg, XP_047278886.1:p.Lys93Arg, XP_047278888.1:p.Lys93Arg, XP_047278891.1:p.Lys93Arg, XP_047278892.1:p.Lys93Arg, XP_047278894.1:p.Lys93Arg, XP_047278889.1:p.Lys93Arg, XP_047278887.1:p.Lys93Arg, XP_047278893.1:p.Lys93Arg

      3.

      rs1488875644 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        9:15723658 (GRCh38)
        9:15723656 (GRCh37)
        Canonical SPDI:
        NC_000009.12:15723657:T:C
        Gene:
        CCDC171 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000009.12:g.15723658T>C, NC_000009.11:g.15723656T>C, NG_052634.1:g.175785T>C, NM_001348002.2:c.1148T>C, NM_001348002.1:c.1148T>C, NM_001355547.1:c.1427T>C, XM_005251399.5:c.1427T>C, XM_005251399.4:c.1427T>C, XM_005251399.3:c.1427T>C, XM_005251399.2:c.1427T>C, XM_005251399.1:c.1427T>C, XM_005251398.5:c.1427T>C, XM_005251398.4:c.1427T>C, XM_005251398.3:c.1427T>C, XM_005251398.2:c.1427T>C, XM_005251398.1:c.1427T>C, XM_011517791.4:c.1295T>C, XM_011517791.3:c.1295T>C, XM_011517791.2:c.1295T>C, XM_011517791.1:c.1295T>C, XM_011517796.4:c.956T>C, XM_011517796.3:c.956T>C, XM_011517796.2:c.956T>C, XM_011517796.1:c.956T>C, XR_001746229.3:n.1798T>C, XR_001746229.2:n.1897T>C, XR_001746229.1:n.1863T>C, XM_017014433.3:c.1427T>C, XM_017014433.2:c.1427T>C, XM_017014433.1:c.1427T>C, XM_017014442.3:c.1427T>C, XM_017014442.2:c.1427T>C, XM_017014442.1:c.1427T>C, XM_017014431.3:c.1427T>C, XM_017014431.2:c.1427T>C, XM_017014431.1:c.1427T>C, XM_011517788.3:c.1427T>C, XM_011517788.2:c.1427T>C, XM_011517788.1:c.1427T>C, XM_017014434.3:c.1427T>C, XM_017014434.2:c.1427T>C, XM_017014434.1:c.1427T>C, XM_017014435.3:c.1427T>C, XM_017014435.2:c.1427T>C, XM_017014435.1:c.1427T>C, XM_005251397.3:c.1427T>C, XM_005251397.2:c.1427T>C, XM_005251397.1:c.1427T>C, XR_001746227.3:n.1798T>C, XR_001746227.2:n.1897T>C, XR_001746227.1:n.1864T>C, XM_017014437.3:c.1427T>C, XM_017014437.2:c.1427T>C, XM_017014437.1:c.1427T>C, XM_017014438.3:c.1427T>C, XM_017014438.2:c.1427T>C, XM_017014438.1:c.1427T>C, XR_001746228.3:n.1798T>C, XR_001746228.2:n.1897T>C, XR_001746228.1:n.1864T>C, XM_017014436.3:c.1427T>C, XM_017014436.2:c.1427T>C, XM_017014436.1:c.1427T>C, XM_017014432.3:c.1427T>C, XM_017014432.2:c.1427T>C, XM_017014432.1:c.1427T>C, XM_017014440.2:c.1148T>C, XM_017014440.1:c.1148T>C, XM_017014443.2:c.872T>C, XM_017014443.1:c.872T>C, XM_047422939.1:c.1295T>C, XR_007061262.1:n.1798T>C, XM_047422934.1:c.1295T>C, XM_047422930.1:c.1427T>C, XM_047422932.1:c.1295T>C, XM_047422935.1:c.1295T>C, XM_047422936.1:c.1295T>C, XM_047422938.1:c.1295T>C, XM_047422933.1:c.1427T>C, XM_047422931.1:c.1295T>C, XM_047422937.1:c.1295T>C, XR_007061261.1:n.1798T>C, NP_001334931.1:p.Leu383Pro, NP_001342476.1:p.Leu476Pro, XP_005251456.1:p.Leu476Pro, XP_005251455.1:p.Leu476Pro, XP_011516093.1:p.Leu432Pro, XP_011516098.1:p.Leu319Pro, XP_016869922.1:p.Leu476Pro, XP_016869931.1:p.Leu476Pro, XP_016869920.1:p.Leu476Pro, XP_011516090.1:p.Leu476Pro, XP_016869923.1:p.Leu476Pro, XP_016869924.1:p.Leu476Pro, XP_005251454.1:p.Leu476Pro, XP_016869926.1:p.Leu476Pro, XP_016869927.1:p.Leu476Pro, XP_016869925.1:p.Leu476Pro, XP_016869921.1:p.Leu476Pro, XP_016869929.1:p.Leu383Pro, XP_016869932.1:p.Leu291Pro, XP_047278895.1:p.Leu432Pro, XP_047278890.1:p.Leu432Pro, XP_047278886.1:p.Leu476Pro, XP_047278888.1:p.Leu432Pro, XP_047278891.1:p.Leu432Pro, XP_047278892.1:p.Leu432Pro, XP_047278894.1:p.Leu432Pro, XP_047278889.1:p.Leu476Pro, XP_047278887.1:p.Leu432Pro, XP_047278893.1:p.Leu432Pro

        4.

        rs1488751989 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CTT>- [Show Flanks]
          Chromosome:
          9:15745577 (GRCh38)
          9:15745575 (GRCh37)
          Canonical SPDI:
          NC_000009.12:15745573:CTTCTT:CTT
          Gene:
          CCDC171 (Varview)
          Functional Consequence:
          coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CTTCTT=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000017/4 (GnomAD_exomes)
          -=0.000023/6 (TOPMED)
          HGVS:
          NC_000009.12:g.15745574CTT[1], NC_000009.11:g.15745572CTT[1], NG_052634.1:g.197701CTT[1], NM_173550.4:c.2614CTT[1], NM_173550.3:c.2614CTT[1], NM_173550.2:c.2614CTT[1], NM_001348002.2:c.2359CTT[1], NM_001348002.1:c.2359CTT[1], NM_001355547.1:c.2638CTT[1], XM_005251399.5:c.2638CTT[1], XM_005251399.4:c.2638CTT[1], XM_005251399.3:c.2638CTT[1], XM_005251399.2:c.2638CTT[1], XM_005251399.1:c.2638CTT[1], XM_005251398.5:c.2638CTT[1], XM_005251398.4:c.2638CTT[1], XM_005251398.3:c.2638CTT[1], XM_005251398.2:c.2638CTT[1], XM_005251398.1:c.2638CTT[1], XM_011517791.4:c.2506CTT[1], XM_011517791.3:c.2506CTT[1], XM_011517791.2:c.2506CTT[1], XM_011517791.1:c.2506CTT[1], XM_011517796.4:c.2167CTT[1], XM_011517796.3:c.2167CTT[1], XM_011517796.2:c.2167CTT[1], XM_011517796.1:c.2167CTT[1], XR_001746229.3:n.3009CTT[1], XR_001746229.2:n.3108CTT[1], XR_001746229.1:n.3074CTT[1], XM_017014433.3:c.2638CTT[1], XM_017014433.2:c.2638CTT[1], XM_017014433.1:c.2638CTT[1], XM_017014442.3:c.2638CTT[1], XM_017014442.2:c.2638CTT[1], XM_017014442.1:c.2638CTT[1], XM_017014431.3:c.2638CTT[1], XM_017014431.2:c.2638CTT[1], XM_017014431.1:c.2638CTT[1], XM_011517788.3:c.2638CTT[1], XM_011517788.2:c.2638CTT[1], XM_011517788.1:c.2638CTT[1], XM_017014434.3:c.2638CTT[1], XM_017014434.2:c.2638CTT[1], XM_017014434.1:c.2638CTT[1], XM_017014435.3:c.2638CTT[1], XM_017014435.2:c.2638CTT[1], XM_017014435.1:c.2638CTT[1], XM_005251397.3:c.2638CTT[1], XM_005251397.2:c.2638CTT[1], XM_005251397.1:c.2638CTT[1], XR_001746227.3:n.3009CTT[1], XR_001746227.2:n.3108CTT[1], XR_001746227.1:n.3075CTT[1], XM_017014437.3:c.2638CTT[1], XM_017014437.2:c.2638CTT[1], XM_017014437.1:c.2638CTT[1], XM_017014438.3:c.2638CTT[1], XM_017014438.2:c.2638CTT[1], XM_017014438.1:c.2638CTT[1], XR_001746228.3:n.3009CTT[1], XR_001746228.2:n.3108CTT[1], XR_001746228.1:n.3075CTT[1], XM_017014436.3:c.2638CTT[1], XM_017014436.2:c.2638CTT[1], XM_017014436.1:c.2638CTT[1], XM_017014432.3:c.2638CTT[1], XM_017014432.2:c.2638CTT[1], XM_017014432.1:c.2638CTT[1], XM_017014440.2:c.2359CTT[1], XM_017014440.1:c.2359CTT[1], XM_017014443.2:c.2083CTT[1], XM_017014443.1:c.2083CTT[1], XM_047422939.1:c.2506CTT[1], XR_007061262.1:n.3009CTT[1], XM_047422934.1:c.2506CTT[1], XM_047422930.1:c.2638CTT[1], XM_047422932.1:c.2506CTT[1], XM_047422935.1:c.2506CTT[1], XM_047422936.1:c.2506CTT[1], XM_047422938.1:c.2506CTT[1], XM_047422933.1:c.2638CTT[1], XM_047422931.1:c.2506CTT[1], XM_047422937.1:c.2506CTT[1], XR_007061261.1:n.3009CTT[1], NP_775821.2:p.Leu873del, NP_001334931.1:p.Leu788del, NP_001342476.1:p.Leu881del, XP_005251456.1:p.Leu881del, XP_005251455.1:p.Leu881del, XP_011516093.1:p.Leu837del, XP_011516098.1:p.Leu724del, XP_016869922.1:p.Leu881del, XP_016869931.1:p.Leu881del, XP_016869920.1:p.Leu881del, XP_011516090.1:p.Leu881del, XP_016869923.1:p.Leu881del, XP_016869924.1:p.Leu881del, XP_005251454.1:p.Leu881del, XP_016869926.1:p.Leu881del, XP_016869927.1:p.Leu881del, XP_016869925.1:p.Leu881del, XP_016869921.1:p.Leu881del, XP_016869929.1:p.Leu788del, XP_016869932.1:p.Leu696del, XP_047278895.1:p.Leu837del, XP_047278890.1:p.Leu837del, XP_047278886.1:p.Leu881del, XP_047278888.1:p.Leu837del, XP_047278891.1:p.Leu837del, XP_047278892.1:p.Leu837del, XP_047278894.1:p.Leu837del, XP_047278889.1:p.Leu881del, XP_047278887.1:p.Leu837del, XP_047278893.1:p.Leu837del

          5.

          rs1486578760 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G [Show Flanks]
            Chromosome:
            9:15729784 (GRCh38)
            9:15729782 (GRCh37)
            Canonical SPDI:
            NC_000009.12:15729783:C:A,NC_000009.12:15729783:C:G
            Gene:
            CCDC171 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000009.12:g.15729784C>A, NC_000009.12:g.15729784C>G, NC_000009.11:g.15729782C>A, NC_000009.11:g.15729782C>G, NG_052634.1:g.181911C>A, NG_052634.1:g.181911C>G, NM_173550.4:c.2035C>A, NM_173550.4:c.2035C>G, NM_173550.3:c.2035C>A, NM_173550.3:c.2035C>G, NM_173550.2:c.2035C>A, NM_173550.2:c.2035C>G, NM_001348002.2:c.1780C>A, NM_001348002.2:c.1780C>G, NM_001348002.1:c.1780C>A, NM_001348002.1:c.1780C>G, NM_001355547.1:c.2059C>A, NM_001355547.1:c.2059C>G, XM_005251399.5:c.2059C>A, XM_005251399.5:c.2059C>G, XM_005251399.4:c.2059C>A, XM_005251399.4:c.2059C>G, XM_005251399.3:c.2059C>A, XM_005251399.3:c.2059C>G, XM_005251399.2:c.2059C>A, XM_005251399.2:c.2059C>G, XM_005251399.1:c.2059C>A, XM_005251399.1:c.2059C>G, XM_005251398.5:c.2059C>A, XM_005251398.5:c.2059C>G, XM_005251398.4:c.2059C>A, XM_005251398.4:c.2059C>G, XM_005251398.3:c.2059C>A, XM_005251398.3:c.2059C>G, XM_005251398.2:c.2059C>A, XM_005251398.2:c.2059C>G, XM_005251398.1:c.2059C>A, XM_005251398.1:c.2059C>G, XM_011517791.4:c.1927C>A, XM_011517791.4:c.1927C>G, XM_011517791.3:c.1927C>A, XM_011517791.3:c.1927C>G, XM_011517791.2:c.1927C>A, XM_011517791.2:c.1927C>G, XM_011517791.1:c.1927C>A, XM_011517791.1:c.1927C>G, XM_011517796.4:c.1588C>A, XM_011517796.4:c.1588C>G, XM_011517796.3:c.1588C>A, XM_011517796.3:c.1588C>G, XM_011517796.2:c.1588C>A, XM_011517796.2:c.1588C>G, XM_011517796.1:c.1588C>A, XM_011517796.1:c.1588C>G, XR_001746229.3:n.2430C>A, XR_001746229.3:n.2430C>G, XR_001746229.2:n.2529C>A, XR_001746229.2:n.2529C>G, XR_001746229.1:n.2495C>A, XR_001746229.1:n.2495C>G, XM_017014433.3:c.2059C>A, XM_017014433.3:c.2059C>G, XM_017014433.2:c.2059C>A, XM_017014433.2:c.2059C>G, XM_017014433.1:c.2059C>A, XM_017014433.1:c.2059C>G, XM_017014442.3:c.2059C>A, XM_017014442.3:c.2059C>G, XM_017014442.2:c.2059C>A, XM_017014442.2:c.2059C>G, XM_017014442.1:c.2059C>A, XM_017014442.1:c.2059C>G, XM_017014431.3:c.2059C>A, XM_017014431.3:c.2059C>G, XM_017014431.2:c.2059C>A, XM_017014431.2:c.2059C>G, XM_017014431.1:c.2059C>A, XM_017014431.1:c.2059C>G, XM_011517788.3:c.2059C>A, XM_011517788.3:c.2059C>G, XM_011517788.2:c.2059C>A, XM_011517788.2:c.2059C>G, XM_011517788.1:c.2059C>A, XM_011517788.1:c.2059C>G, XM_017014434.3:c.2059C>A, XM_017014434.3:c.2059C>G, XM_017014434.2:c.2059C>A, XM_017014434.2:c.2059C>G, XM_017014434.1:c.2059C>A, XM_017014434.1:c.2059C>G, XM_017014435.3:c.2059C>A, XM_017014435.3:c.2059C>G, XM_017014435.2:c.2059C>A, XM_017014435.2:c.2059C>G, XM_017014435.1:c.2059C>A, XM_017014435.1:c.2059C>G, XM_005251397.3:c.2059C>A, XM_005251397.3:c.2059C>G, XM_005251397.2:c.2059C>A, XM_005251397.2:c.2059C>G, XM_005251397.1:c.2059C>A, XM_005251397.1:c.2059C>G, XR_001746227.3:n.2430C>A, XR_001746227.3:n.2430C>G, XR_001746227.2:n.2529C>A, XR_001746227.2:n.2529C>G, XR_001746227.1:n.2496C>A, XR_001746227.1:n.2496C>G, XM_017014437.3:c.2059C>A, XM_017014437.3:c.2059C>G, XM_017014437.2:c.2059C>A, XM_017014437.2:c.2059C>G, XM_017014437.1:c.2059C>A, XM_017014437.1:c.2059C>G, XM_017014438.3:c.2059C>A, XM_017014438.3:c.2059C>G, XM_017014438.2:c.2059C>A, XM_017014438.2:c.2059C>G, XM_017014438.1:c.2059C>A, XM_017014438.1:c.2059C>G, XR_001746228.3:n.2430C>A, XR_001746228.3:n.2430C>G, XR_001746228.2:n.2529C>A, XR_001746228.2:n.2529C>G, XR_001746228.1:n.2496C>A, XR_001746228.1:n.2496C>G, XM_017014436.3:c.2059C>A, XM_017014436.3:c.2059C>G, XM_017014436.2:c.2059C>A, XM_017014436.2:c.2059C>G, XM_017014436.1:c.2059C>A, XM_017014436.1:c.2059C>G, XM_017014432.3:c.2059C>A, XM_017014432.3:c.2059C>G, XM_017014432.2:c.2059C>A, XM_017014432.2:c.2059C>G, XM_017014432.1:c.2059C>A, XM_017014432.1:c.2059C>G, XM_017014440.2:c.1780C>A, XM_017014440.2:c.1780C>G, XM_017014440.1:c.1780C>A, XM_017014440.1:c.1780C>G, XM_017014443.2:c.1504C>A, XM_017014443.2:c.1504C>G, XM_017014443.1:c.1504C>A, XM_017014443.1:c.1504C>G, XM_047422939.1:c.1927C>A, XM_047422939.1:c.1927C>G, XR_007061262.1:n.2430C>A, XR_007061262.1:n.2430C>G, XM_047422934.1:c.1927C>A, XM_047422934.1:c.1927C>G, XM_047422930.1:c.2059C>A, XM_047422930.1:c.2059C>G, XM_047422932.1:c.1927C>A, XM_047422932.1:c.1927C>G, XM_047422935.1:c.1927C>A, XM_047422935.1:c.1927C>G, XM_047422936.1:c.1927C>A, XM_047422936.1:c.1927C>G, XM_047422938.1:c.1927C>A, XM_047422938.1:c.1927C>G, XM_047422933.1:c.2059C>A, XM_047422933.1:c.2059C>G, XM_047422931.1:c.1927C>A, XM_047422931.1:c.1927C>G, XM_047422937.1:c.1927C>A, XM_047422937.1:c.1927C>G, XR_007061261.1:n.2430C>A, XR_007061261.1:n.2430C>G, NP_775821.2:p.Gln679Lys, NP_775821.2:p.Gln679Glu, NP_001334931.1:p.Gln594Lys, NP_001334931.1:p.Gln594Glu, NP_001342476.1:p.Gln687Lys, NP_001342476.1:p.Gln687Glu, XP_005251456.1:p.Gln687Lys, XP_005251456.1:p.Gln687Glu, XP_005251455.1:p.Gln687Lys, XP_005251455.1:p.Gln687Glu, XP_011516093.1:p.Gln643Lys, XP_011516093.1:p.Gln643Glu, XP_011516098.1:p.Gln530Lys, XP_011516098.1:p.Gln530Glu, XP_016869922.1:p.Gln687Lys, XP_016869922.1:p.Gln687Glu, XP_016869931.1:p.Gln687Lys, XP_016869931.1:p.Gln687Glu, XP_016869920.1:p.Gln687Lys, XP_016869920.1:p.Gln687Glu, XP_011516090.1:p.Gln687Lys, XP_011516090.1:p.Gln687Glu, XP_016869923.1:p.Gln687Lys, XP_016869923.1:p.Gln687Glu, XP_016869924.1:p.Gln687Lys, XP_016869924.1:p.Gln687Glu, XP_005251454.1:p.Gln687Lys, XP_005251454.1:p.Gln687Glu, XP_016869926.1:p.Gln687Lys, XP_016869926.1:p.Gln687Glu, XP_016869927.1:p.Gln687Lys, XP_016869927.1:p.Gln687Glu, XP_016869925.1:p.Gln687Lys, XP_016869925.1:p.Gln687Glu, XP_016869921.1:p.Gln687Lys, XP_016869921.1:p.Gln687Glu, XP_016869929.1:p.Gln594Lys, XP_016869929.1:p.Gln594Glu, XP_016869932.1:p.Gln502Lys, XP_016869932.1:p.Gln502Glu, XP_047278895.1:p.Gln643Lys, XP_047278895.1:p.Gln643Glu, XP_047278890.1:p.Gln643Lys, XP_047278890.1:p.Gln643Glu, XP_047278886.1:p.Gln687Lys, XP_047278886.1:p.Gln687Glu, XP_047278888.1:p.Gln643Lys, XP_047278888.1:p.Gln643Glu, XP_047278891.1:p.Gln643Lys, XP_047278891.1:p.Gln643Glu, XP_047278892.1:p.Gln643Lys, XP_047278892.1:p.Gln643Glu, XP_047278894.1:p.Gln643Lys, XP_047278894.1:p.Gln643Glu, XP_047278889.1:p.Gln687Lys, XP_047278889.1:p.Gln687Glu, XP_047278887.1:p.Gln643Lys, XP_047278887.1:p.Gln643Glu, XP_047278893.1:p.Gln643Lys, XP_047278893.1:p.Gln643Glu

            6.

            rs1485555563 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              9:15724912 (GRCh38)
              9:15724910 (GRCh37)
              Canonical SPDI:
              NC_000009.12:15724911:C:G,NC_000009.12:15724911:C:T
              Gene:
              CCDC171 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000009.12:g.15724912C>G, NC_000009.12:g.15724912C>T, NC_000009.11:g.15724910C>G, NC_000009.11:g.15724910C>T, NG_052634.1:g.177039C>G, NG_052634.1:g.177039C>T, NM_173550.4:c.1628C>G, NM_173550.4:c.1628C>T, NM_173550.3:c.1628C>G, NM_173550.3:c.1628C>T, NM_173550.2:c.1628C>G, NM_173550.2:c.1628C>T, NM_001348002.2:c.1373C>G, NM_001348002.2:c.1373C>T, NM_001348002.1:c.1373C>G, NM_001348002.1:c.1373C>T, NM_001355547.1:c.1652C>G, NM_001355547.1:c.1652C>T, XM_005251399.5:c.1652C>G, XM_005251399.5:c.1652C>T, XM_005251399.4:c.1652C>G, XM_005251399.4:c.1652C>T, XM_005251399.3:c.1652C>G, XM_005251399.3:c.1652C>T, XM_005251399.2:c.1652C>G, XM_005251399.2:c.1652C>T, XM_005251399.1:c.1652C>G, XM_005251399.1:c.1652C>T, XM_005251398.5:c.1652C>G, XM_005251398.5:c.1652C>T, XM_005251398.4:c.1652C>G, XM_005251398.4:c.1652C>T, XM_005251398.3:c.1652C>G, XM_005251398.3:c.1652C>T, XM_005251398.2:c.1652C>G, XM_005251398.2:c.1652C>T, XM_005251398.1:c.1652C>G, XM_005251398.1:c.1652C>T, XM_011517791.4:c.1520C>G, XM_011517791.4:c.1520C>T, XM_011517791.3:c.1520C>G, XM_011517791.3:c.1520C>T, XM_011517791.2:c.1520C>G, XM_011517791.2:c.1520C>T, XM_011517791.1:c.1520C>G, XM_011517791.1:c.1520C>T, XM_011517796.4:c.1181C>G, XM_011517796.4:c.1181C>T, XM_011517796.3:c.1181C>G, XM_011517796.3:c.1181C>T, XM_011517796.2:c.1181C>G, XM_011517796.2:c.1181C>T, XM_011517796.1:c.1181C>G, XM_011517796.1:c.1181C>T, XR_001746229.3:n.2023C>G, XR_001746229.3:n.2023C>T, XR_001746229.2:n.2122C>G, XR_001746229.2:n.2122C>T, XR_001746229.1:n.2088C>G, XR_001746229.1:n.2088C>T, XM_017014433.3:c.1652C>G, XM_017014433.3:c.1652C>T, XM_017014433.2:c.1652C>G, XM_017014433.2:c.1652C>T, XM_017014433.1:c.1652C>G, XM_017014433.1:c.1652C>T, XM_017014442.3:c.1652C>G, XM_017014442.3:c.1652C>T, XM_017014442.2:c.1652C>G, XM_017014442.2:c.1652C>T, XM_017014442.1:c.1652C>G, XM_017014442.1:c.1652C>T, XM_017014431.3:c.1652C>G, XM_017014431.3:c.1652C>T, XM_017014431.2:c.1652C>G, XM_017014431.2:c.1652C>T, XM_017014431.1:c.1652C>G, XM_017014431.1:c.1652C>T, XM_011517788.3:c.1652C>G, XM_011517788.3:c.1652C>T, XM_011517788.2:c.1652C>G, XM_011517788.2:c.1652C>T, XM_011517788.1:c.1652C>G, XM_011517788.1:c.1652C>T, XM_017014434.3:c.1652C>G, XM_017014434.3:c.1652C>T, XM_017014434.2:c.1652C>G, XM_017014434.2:c.1652C>T, XM_017014434.1:c.1652C>G, XM_017014434.1:c.1652C>T, XM_017014435.3:c.1652C>G, XM_017014435.3:c.1652C>T, XM_017014435.2:c.1652C>G, XM_017014435.2:c.1652C>T, XM_017014435.1:c.1652C>G, XM_017014435.1:c.1652C>T, XM_005251397.3:c.1652C>G, XM_005251397.3:c.1652C>T, XM_005251397.2:c.1652C>G, XM_005251397.2:c.1652C>T, XM_005251397.1:c.1652C>G, XM_005251397.1:c.1652C>T, XR_001746227.3:n.2023C>G, XR_001746227.3:n.2023C>T, XR_001746227.2:n.2122C>G, XR_001746227.2:n.2122C>T, XR_001746227.1:n.2089C>G, XR_001746227.1:n.2089C>T, XM_017014437.3:c.1652C>G, XM_017014437.3:c.1652C>T, XM_017014437.2:c.1652C>G, XM_017014437.2:c.1652C>T, XM_017014437.1:c.1652C>G, XM_017014437.1:c.1652C>T, XM_017014438.3:c.1652C>G, XM_017014438.3:c.1652C>T, XM_017014438.2:c.1652C>G, XM_017014438.2:c.1652C>T, XM_017014438.1:c.1652C>G, XM_017014438.1:c.1652C>T, XR_001746228.3:n.2023C>G, XR_001746228.3:n.2023C>T, XR_001746228.2:n.2122C>G, XR_001746228.2:n.2122C>T, XR_001746228.1:n.2089C>G, XR_001746228.1:n.2089C>T, XM_017014436.3:c.1652C>G, XM_017014436.3:c.1652C>T, XM_017014436.2:c.1652C>G, XM_017014436.2:c.1652C>T, XM_017014436.1:c.1652C>G, XM_017014436.1:c.1652C>T, XM_017014432.3:c.1652C>G, XM_017014432.3:c.1652C>T, XM_017014432.2:c.1652C>G, XM_017014432.2:c.1652C>T, XM_017014432.1:c.1652C>G, XM_017014432.1:c.1652C>T, XM_017014440.2:c.1373C>G, XM_017014440.2:c.1373C>T, XM_017014440.1:c.1373C>G, XM_017014440.1:c.1373C>T, XM_017014443.2:c.1097C>G, XM_017014443.2:c.1097C>T, XM_017014443.1:c.1097C>G, XM_017014443.1:c.1097C>T, XM_047422939.1:c.1520C>G, XM_047422939.1:c.1520C>T, XR_007061262.1:n.2023C>G, XR_007061262.1:n.2023C>T, XM_047422934.1:c.1520C>G, XM_047422934.1:c.1520C>T, XM_047422930.1:c.1652C>G, XM_047422930.1:c.1652C>T, XM_047422932.1:c.1520C>G, XM_047422932.1:c.1520C>T, XM_047422935.1:c.1520C>G, XM_047422935.1:c.1520C>T, XM_047422936.1:c.1520C>G, XM_047422936.1:c.1520C>T, XM_047422938.1:c.1520C>G, XM_047422938.1:c.1520C>T, XM_047422933.1:c.1652C>G, XM_047422933.1:c.1652C>T, XM_047422931.1:c.1520C>G, XM_047422931.1:c.1520C>T, XM_047422937.1:c.1520C>G, XM_047422937.1:c.1520C>T, XR_007061261.1:n.2023C>G, XR_007061261.1:n.2023C>T, NP_775821.2:p.Ala543Gly, NP_775821.2:p.Ala543Val, NP_001334931.1:p.Ala458Gly, NP_001334931.1:p.Ala458Val, NP_001342476.1:p.Ala551Gly, NP_001342476.1:p.Ala551Val, XP_005251456.1:p.Ala551Gly, XP_005251456.1:p.Ala551Val, XP_005251455.1:p.Ala551Gly, XP_005251455.1:p.Ala551Val, XP_011516093.1:p.Ala507Gly, XP_011516093.1:p.Ala507Val, XP_011516098.1:p.Ala394Gly, XP_011516098.1:p.Ala394Val, XP_016869922.1:p.Ala551Gly, XP_016869922.1:p.Ala551Val, XP_016869931.1:p.Ala551Gly, XP_016869931.1:p.Ala551Val, XP_016869920.1:p.Ala551Gly, XP_016869920.1:p.Ala551Val, XP_011516090.1:p.Ala551Gly, XP_011516090.1:p.Ala551Val, XP_016869923.1:p.Ala551Gly, XP_016869923.1:p.Ala551Val, XP_016869924.1:p.Ala551Gly, XP_016869924.1:p.Ala551Val, XP_005251454.1:p.Ala551Gly, XP_005251454.1:p.Ala551Val, XP_016869926.1:p.Ala551Gly, XP_016869926.1:p.Ala551Val, XP_016869927.1:p.Ala551Gly, XP_016869927.1:p.Ala551Val, XP_016869925.1:p.Ala551Gly, XP_016869925.1:p.Ala551Val, XP_016869921.1:p.Ala551Gly, XP_016869921.1:p.Ala551Val, XP_016869929.1:p.Ala458Gly, XP_016869929.1:p.Ala458Val, XP_016869932.1:p.Ala366Gly, XP_016869932.1:p.Ala366Val, XP_047278895.1:p.Ala507Gly, XP_047278895.1:p.Ala507Val, XP_047278890.1:p.Ala507Gly, XP_047278890.1:p.Ala507Val, XP_047278886.1:p.Ala551Gly, XP_047278886.1:p.Ala551Val, XP_047278888.1:p.Ala507Gly, XP_047278888.1:p.Ala507Val, XP_047278891.1:p.Ala507Gly, XP_047278891.1:p.Ala507Val, XP_047278892.1:p.Ala507Gly, XP_047278892.1:p.Ala507Val, XP_047278894.1:p.Ala507Gly, XP_047278894.1:p.Ala507Val, XP_047278889.1:p.Ala551Gly, XP_047278889.1:p.Ala551Val, XP_047278887.1:p.Ala507Gly, XP_047278887.1:p.Ala507Val, XP_047278893.1:p.Ala507Gly, XP_047278893.1:p.Ala507Val

              7.

              rs1484634147 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                9:15846757 (GRCh38)
                9:15846755 (GRCh37)
                Canonical SPDI:
                NC_000009.12:15846756:T:A,NC_000009.12:15846756:T:C
                Gene:
                CCDC171 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.15846757T>A, NC_000009.12:g.15846757T>C, NC_000009.11:g.15846755T>A, NC_000009.11:g.15846755T>C, NG_052634.1:g.298884T>A, NG_052634.1:g.298884T>C, NM_173550.4:c.3323T>A, NM_173550.4:c.3323T>C, NM_173550.3:c.3323T>A, NM_173550.3:c.3323T>C, NM_173550.2:c.3323T>A, NM_173550.2:c.3323T>C, NM_001348002.2:c.3068T>A, NM_001348002.2:c.3068T>C, NM_001348002.1:c.3068T>A, NM_001348002.1:c.3068T>C, NM_001355547.1:c.3347T>A, NM_001355547.1:c.3347T>C, XM_005251399.5:c.3347T>A, XM_005251399.5:c.3347T>C, XM_005251399.4:c.3347T>A, XM_005251399.4:c.3347T>C, XM_005251399.3:c.3347T>A, XM_005251399.3:c.3347T>C, XM_005251399.2:c.3347T>A, XM_005251399.2:c.3347T>C, XM_005251399.1:c.3347T>A, XM_005251399.1:c.3347T>C, XM_005251398.5:c.3347T>A, XM_005251398.5:c.3347T>C, XM_005251398.4:c.3347T>A, XM_005251398.4:c.3347T>C, XM_005251398.3:c.3347T>A, XM_005251398.3:c.3347T>C, XM_005251398.2:c.3347T>A, XM_005251398.2:c.3347T>C, XM_005251398.1:c.3347T>A, XM_005251398.1:c.3347T>C, XM_011517791.4:c.3215T>A, XM_011517791.4:c.3215T>C, XM_011517791.3:c.3215T>A, XM_011517791.3:c.3215T>C, XM_011517791.2:c.3215T>A, XM_011517791.2:c.3215T>C, XM_011517791.1:c.3215T>A, XM_011517791.1:c.3215T>C, XM_011517796.4:c.2876T>A, XM_011517796.4:c.2876T>C, XM_011517796.3:c.2876T>A, XM_011517796.3:c.2876T>C, XM_011517796.2:c.2876T>A, XM_011517796.2:c.2876T>C, XM_011517796.1:c.2876T>A, XM_011517796.1:c.2876T>C, XR_001746229.3:n.3718T>A, XR_001746229.3:n.3718T>C, XR_001746229.2:n.3817T>A, XR_001746229.2:n.3817T>C, XR_001746229.1:n.3783T>A, XR_001746229.1:n.3783T>C, XM_017014433.3:c.3347T>A, XM_017014433.3:c.3347T>C, XM_017014433.2:c.3347T>A, XM_017014433.2:c.3347T>C, XM_017014433.1:c.3347T>A, XM_017014433.1:c.3347T>C, XM_017014442.3:c.3347T>A, XM_017014442.3:c.3347T>C, XM_017014442.2:c.3347T>A, XM_017014442.2:c.3347T>C, XM_017014442.1:c.3347T>A, XM_017014442.1:c.3347T>C, XM_017014431.3:c.3347T>A, XM_017014431.3:c.3347T>C, XM_017014431.2:c.3347T>A, XM_017014431.2:c.3347T>C, XM_017014431.1:c.3347T>A, XM_017014431.1:c.3347T>C, XM_011517788.3:c.3347T>A, XM_011517788.3:c.3347T>C, XM_011517788.2:c.3347T>A, XM_011517788.2:c.3347T>C, XM_011517788.1:c.3347T>A, XM_011517788.1:c.3347T>C, XM_017014434.3:c.3347T>A, XM_017014434.3:c.3347T>C, XM_017014434.2:c.3347T>A, XM_017014434.2:c.3347T>C, XM_017014434.1:c.3347T>A, XM_017014434.1:c.3347T>C, XM_017014435.3:c.3347T>A, XM_017014435.3:c.3347T>C, XM_017014435.2:c.3347T>A, XM_017014435.2:c.3347T>C, XM_017014435.1:c.3347T>A, XM_017014435.1:c.3347T>C, XM_005251397.3:c.3347T>A, XM_005251397.3:c.3347T>C, XM_005251397.2:c.3347T>A, XM_005251397.2:c.3347T>C, XM_005251397.1:c.3347T>A, XM_005251397.1:c.3347T>C, XR_001746227.3:n.3718T>A, XR_001746227.3:n.3718T>C, XR_001746227.2:n.3817T>A, XR_001746227.2:n.3817T>C, XR_001746227.1:n.3784T>A, XR_001746227.1:n.3784T>C, XM_017014437.3:c.3347T>A, XM_017014437.3:c.3347T>C, XM_017014437.2:c.3347T>A, XM_017014437.2:c.3347T>C, XM_017014437.1:c.3347T>A, XM_017014437.1:c.3347T>C, XM_017014438.3:c.3347T>A, XM_017014438.3:c.3347T>C, XM_017014438.2:c.3347T>A, XM_017014438.2:c.3347T>C, XM_017014438.1:c.3347T>A, XM_017014438.1:c.3347T>C, XR_001746228.3:n.3718T>A, XR_001746228.3:n.3718T>C, XR_001746228.2:n.3817T>A, XR_001746228.2:n.3817T>C, XR_001746228.1:n.3784T>A, XR_001746228.1:n.3784T>C, XM_017014436.3:c.3347T>A, XM_017014436.3:c.3347T>C, XM_017014436.2:c.3347T>A, XM_017014436.2:c.3347T>C, XM_017014436.1:c.3347T>A, XM_017014436.1:c.3347T>C, XM_017014432.3:c.3347T>A, XM_017014432.3:c.3347T>C, XM_017014432.2:c.3347T>A, XM_017014432.2:c.3347T>C, XM_017014432.1:c.3347T>A, XM_017014432.1:c.3347T>C, XM_017014440.2:c.3068T>A, XM_017014440.2:c.3068T>C, XM_017014440.1:c.3068T>A, XM_017014440.1:c.3068T>C, XM_017014443.2:c.2792T>A, XM_017014443.2:c.2792T>C, XM_017014443.1:c.2792T>A, XM_017014443.1:c.2792T>C, XM_047422939.1:c.3215T>A, XM_047422939.1:c.3215T>C, XR_007061262.1:n.3718T>A, XR_007061262.1:n.3718T>C, XM_047422934.1:c.3215T>A, XM_047422934.1:c.3215T>C, XM_047422930.1:c.3347T>A, XM_047422930.1:c.3347T>C, XM_047422932.1:c.3215T>A, XM_047422932.1:c.3215T>C, XM_047422935.1:c.3215T>A, XM_047422935.1:c.3215T>C, XM_047422936.1:c.3215T>A, XM_047422936.1:c.3215T>C, XM_047422938.1:c.3215T>A, XM_047422938.1:c.3215T>C, XM_047422933.1:c.3347T>A, XM_047422933.1:c.3347T>C, XM_047422931.1:c.3215T>A, XM_047422931.1:c.3215T>C, XM_047422937.1:c.3215T>A, XM_047422937.1:c.3215T>C, XR_007061261.1:n.3718T>A, XR_007061261.1:n.3718T>C, NP_775821.2:p.Leu1108His, NP_775821.2:p.Leu1108Pro, NP_001334931.1:p.Leu1023His, NP_001334931.1:p.Leu1023Pro, NP_001342476.1:p.Leu1116His, NP_001342476.1:p.Leu1116Pro, XP_005251456.1:p.Leu1116His, XP_005251456.1:p.Leu1116Pro, XP_005251455.1:p.Leu1116His, XP_005251455.1:p.Leu1116Pro, XP_011516093.1:p.Leu1072His, XP_011516093.1:p.Leu1072Pro, XP_011516098.1:p.Leu959His, XP_011516098.1:p.Leu959Pro, XP_016869922.1:p.Leu1116His, XP_016869922.1:p.Leu1116Pro, XP_016869931.1:p.Leu1116His, XP_016869931.1:p.Leu1116Pro, XP_016869920.1:p.Leu1116His, XP_016869920.1:p.Leu1116Pro, XP_011516090.1:p.Leu1116His, XP_011516090.1:p.Leu1116Pro, XP_016869923.1:p.Leu1116His, XP_016869923.1:p.Leu1116Pro, XP_016869924.1:p.Leu1116His, XP_016869924.1:p.Leu1116Pro, XP_005251454.1:p.Leu1116His, XP_005251454.1:p.Leu1116Pro, XP_016869926.1:p.Leu1116His, XP_016869926.1:p.Leu1116Pro, XP_016869927.1:p.Leu1116His, XP_016869927.1:p.Leu1116Pro, XP_016869925.1:p.Leu1116His, XP_016869925.1:p.Leu1116Pro, XP_016869921.1:p.Leu1116His, XP_016869921.1:p.Leu1116Pro, XP_016869929.1:p.Leu1023His, XP_016869929.1:p.Leu1023Pro, XP_016869932.1:p.Leu931His, XP_016869932.1:p.Leu931Pro, XP_047278895.1:p.Leu1072His, XP_047278895.1:p.Leu1072Pro, XP_047278890.1:p.Leu1072His, XP_047278890.1:p.Leu1072Pro, XP_047278886.1:p.Leu1116His, XP_047278886.1:p.Leu1116Pro, XP_047278888.1:p.Leu1072His, XP_047278888.1:p.Leu1072Pro, XP_047278891.1:p.Leu1072His, XP_047278891.1:p.Leu1072Pro, XP_047278892.1:p.Leu1072His, XP_047278892.1:p.Leu1072Pro, XP_047278894.1:p.Leu1072His, XP_047278894.1:p.Leu1072Pro, XP_047278889.1:p.Leu1116His, XP_047278889.1:p.Leu1116Pro, XP_047278887.1:p.Leu1072His, XP_047278887.1:p.Leu1072Pro, XP_047278893.1:p.Leu1072His, XP_047278893.1:p.Leu1072Pro

                8.

                rs1483468389 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:15571756 (GRCh38)
                  9:15571754 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:15571755:A:G
                  Gene:
                  CCDC171 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.0001/1 (ALFA)
                  HGVS:
                  NC_000009.12:g.15571756A>G, NC_000009.11:g.15571754A>G, NG_052634.1:g.23883A>G, NM_173550.4:c.174A>G, NM_173550.3:c.174A>G, NM_173550.2:c.174A>G, NM_001348002.2:c.-268A>G, NM_001348002.1:c.-268A>G, NM_001355547.1:c.174A>G, XM_005251399.5:c.174A>G, XM_005251399.4:c.174A>G, XM_005251399.3:c.174A>G, XM_005251399.2:c.174A>G, XM_005251399.1:c.174A>G, XM_005251398.5:c.174A>G, XM_005251398.4:c.174A>G, XM_005251398.3:c.174A>G, XM_005251398.2:c.174A>G, XM_005251398.1:c.174A>G, XM_011517791.4:c.174A>G, XM_011517791.3:c.174A>G, XM_011517791.2:c.174A>G, XM_011517791.1:c.174A>G, XR_001746229.3:n.545A>G, XR_001746229.2:n.644A>G, XR_001746229.1:n.610A>G, XM_017014433.3:c.174A>G, XM_017014433.2:c.174A>G, XM_017014433.1:c.174A>G, XM_017014442.3:c.174A>G, XM_017014442.2:c.174A>G, XM_017014442.1:c.174A>G, XM_017014431.3:c.174A>G, XM_017014431.2:c.174A>G, XM_017014431.1:c.174A>G, XM_011517788.3:c.174A>G, XM_011517788.2:c.174A>G, XM_011517788.1:c.174A>G, XM_017014434.3:c.174A>G, XM_017014434.2:c.174A>G, XM_017014434.1:c.174A>G, XM_017014435.3:c.174A>G, XM_017014435.2:c.174A>G, XM_017014435.1:c.174A>G, XM_005251397.3:c.174A>G, XM_005251397.2:c.174A>G, XM_005251397.1:c.174A>G, XR_001746227.3:n.545A>G, XR_001746227.2:n.644A>G, XR_001746227.1:n.611A>G, XM_017014437.3:c.174A>G, XM_017014437.2:c.174A>G, XM_017014437.1:c.174A>G, XM_017014438.3:c.174A>G, XM_017014438.2:c.174A>G, XM_017014438.1:c.174A>G, XR_001746228.3:n.545A>G, XR_001746228.2:n.644A>G, XR_001746228.1:n.611A>G, XM_017014436.3:c.174A>G, XM_017014436.2:c.174A>G, XM_017014436.1:c.174A>G, XM_017014432.3:c.174A>G, XM_017014432.2:c.174A>G, XM_017014432.1:c.174A>G, XM_047422939.1:c.174A>G, XR_007061262.1:n.545A>G, XM_047422934.1:c.174A>G, XM_047422930.1:c.174A>G, XM_047422932.1:c.174A>G, XM_047422935.1:c.174A>G, XM_047422936.1:c.174A>G, XM_047422938.1:c.174A>G, XM_047422933.1:c.174A>G, XM_047422931.1:c.174A>G, XM_047422937.1:c.174A>G, XR_007061261.1:n.545A>G

                  9.

                  rs1483309376 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    9:15657190 (GRCh38)
                    9:15657188 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:15657189:G:T
                    Gene:
                    CCDC171 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000009.12:g.15657190G>T, NC_000009.11:g.15657188G>T, NG_052634.1:g.109317G>T, NM_173550.4:c.886G>T, NM_173550.3:c.886G>T, NM_173550.2:c.886G>T, NM_001348002.2:c.607G>T, NM_001348002.1:c.607G>T, NM_001355547.1:c.886G>T, XM_005251399.5:c.886G>T, XM_005251399.4:c.886G>T, XM_005251399.3:c.886G>T, XM_005251399.2:c.886G>T, XM_005251399.1:c.886G>T, XM_005251398.5:c.886G>T, XM_005251398.4:c.886G>T, XM_005251398.3:c.886G>T, XM_005251398.2:c.886G>T, XM_005251398.1:c.886G>T, XM_011517791.4:c.754G>T, XM_011517791.3:c.754G>T, XM_011517791.2:c.754G>T, XM_011517791.1:c.754G>T, XM_011517796.4:c.415G>T, XM_011517796.3:c.415G>T, XM_011517796.2:c.415G>T, XM_011517796.1:c.415G>T, XR_001746229.3:n.1257G>T, XR_001746229.2:n.1356G>T, XR_001746229.1:n.1322G>T, XM_017014433.3:c.886G>T, XM_017014433.2:c.886G>T, XM_017014433.1:c.886G>T, XM_017014442.3:c.886G>T, XM_017014442.2:c.886G>T, XM_017014442.1:c.886G>T, XM_017014431.3:c.886G>T, XM_017014431.2:c.886G>T, XM_017014431.1:c.886G>T, XM_011517788.3:c.886G>T, XM_011517788.2:c.886G>T, XM_011517788.1:c.886G>T, XM_017014434.3:c.886G>T, XM_017014434.2:c.886G>T, XM_017014434.1:c.886G>T, XM_017014435.3:c.886G>T, XM_017014435.2:c.886G>T, XM_017014435.1:c.886G>T, XM_005251397.3:c.886G>T, XM_005251397.2:c.886G>T, XM_005251397.1:c.886G>T, XR_001746227.3:n.1257G>T, XR_001746227.2:n.1356G>T, XR_001746227.1:n.1323G>T, XM_017014437.3:c.886G>T, XM_017014437.2:c.886G>T, XM_017014437.1:c.886G>T, XM_017014438.3:c.886G>T, XM_017014438.2:c.886G>T, XM_017014438.1:c.886G>T, XR_001746228.3:n.1257G>T, XR_001746228.2:n.1356G>T, XR_001746228.1:n.1323G>T, XM_017014436.3:c.886G>T, XM_017014436.2:c.886G>T, XM_017014436.1:c.886G>T, XM_017014432.3:c.886G>T, XM_017014432.2:c.886G>T, XM_017014432.1:c.886G>T, XM_017014440.2:c.607G>T, XM_017014440.1:c.607G>T, XM_017014443.2:c.331G>T, XM_017014443.1:c.331G>T, XM_047422939.1:c.754G>T, XR_007061262.1:n.1257G>T, XM_047422934.1:c.754G>T, XM_047422930.1:c.886G>T, XM_047422932.1:c.754G>T, XM_047422935.1:c.754G>T, XM_047422936.1:c.754G>T, XM_047422938.1:c.754G>T, XM_047422933.1:c.886G>T, XM_047422931.1:c.754G>T, XM_047422937.1:c.754G>T, XR_007061261.1:n.1257G>T, NP_775821.2:p.Glu296Ter, NP_001334931.1:p.Glu203Ter, NP_001342476.1:p.Glu296Ter, XP_005251456.1:p.Glu296Ter, XP_005251455.1:p.Glu296Ter, XP_011516093.1:p.Glu252Ter, XP_011516098.1:p.Glu139Ter, XP_016869922.1:p.Glu296Ter, XP_016869931.1:p.Glu296Ter, XP_016869920.1:p.Glu296Ter, XP_011516090.1:p.Glu296Ter, XP_016869923.1:p.Glu296Ter, XP_016869924.1:p.Glu296Ter, XP_005251454.1:p.Glu296Ter, XP_016869926.1:p.Glu296Ter, XP_016869927.1:p.Glu296Ter, XP_016869925.1:p.Glu296Ter, XP_016869921.1:p.Glu296Ter, XP_016869929.1:p.Glu203Ter, XP_016869932.1:p.Glu111Ter, XP_047278895.1:p.Glu252Ter, XP_047278890.1:p.Glu252Ter, XP_047278886.1:p.Glu296Ter, XP_047278888.1:p.Glu252Ter, XP_047278891.1:p.Glu252Ter, XP_047278892.1:p.Glu252Ter, XP_047278894.1:p.Glu252Ter, XP_047278889.1:p.Glu296Ter, XP_047278887.1:p.Glu252Ter, XP_047278893.1:p.Glu252Ter

                    10.

                    rs1482316534 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      9:15744616 (GRCh38)
                      9:15744615 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:15744616:A:AA
                      Gene:
                      CCDC171 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AA=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000009.12:g.15744617dup, NC_000009.11:g.15744615dup, NG_052634.1:g.196744dup, NM_173550.4:c.2394dup, NM_173550.3:c.2394dup, NM_173550.2:c.2394dup, NM_001348002.2:c.2139dup, NM_001348002.1:c.2139dup, NM_001355547.1:c.2418dup, XM_005251399.5:c.2418dup, XM_005251399.4:c.2418dup, XM_005251399.3:c.2418dup, XM_005251399.2:c.2418dup, XM_005251399.1:c.2418dup, XM_005251398.5:c.2418dup, XM_005251398.4:c.2418dup, XM_005251398.3:c.2418dup, XM_005251398.2:c.2418dup, XM_005251398.1:c.2418dup, XM_011517791.4:c.2286dup, XM_011517791.3:c.2286dup, XM_011517791.2:c.2286dup, XM_011517791.1:c.2286dup, XM_011517796.4:c.1947dup, XM_011517796.3:c.1947dup, XM_011517796.2:c.1947dup, XM_011517796.1:c.1947dup, XR_001746229.3:n.2789dup, XR_001746229.2:n.2888dup, XR_001746229.1:n.2854dup, XM_017014433.3:c.2418dup, XM_017014433.2:c.2418dup, XM_017014433.1:c.2418dup, XM_017014442.3:c.2418dup, XM_017014442.2:c.2418dup, XM_017014442.1:c.2418dup, XM_017014431.3:c.2418dup, XM_017014431.2:c.2418dup, XM_017014431.1:c.2418dup, XM_011517788.3:c.2418dup, XM_011517788.2:c.2418dup, XM_011517788.1:c.2418dup, XM_017014434.3:c.2418dup, XM_017014434.2:c.2418dup, XM_017014434.1:c.2418dup, XM_017014435.3:c.2418dup, XM_017014435.2:c.2418dup, XM_017014435.1:c.2418dup, XM_005251397.3:c.2418dup, XM_005251397.2:c.2418dup, XM_005251397.1:c.2418dup, XR_001746227.3:n.2789dup, XR_001746227.2:n.2888dup, XR_001746227.1:n.2855dup, XM_017014437.3:c.2418dup, XM_017014437.2:c.2418dup, XM_017014437.1:c.2418dup, XM_017014438.3:c.2418dup, XM_017014438.2:c.2418dup, XM_017014438.1:c.2418dup, XR_001746228.3:n.2789dup, XR_001746228.2:n.2888dup, XR_001746228.1:n.2855dup, XM_017014436.3:c.2418dup, XM_017014436.2:c.2418dup, XM_017014436.1:c.2418dup, XM_017014432.3:c.2418dup, XM_017014432.2:c.2418dup, XM_017014432.1:c.2418dup, XM_017014440.2:c.2139dup, XM_017014440.1:c.2139dup, XM_017014443.2:c.1863dup, XM_017014443.1:c.1863dup, XM_047422939.1:c.2286dup, XR_007061262.1:n.2789dup, XM_047422934.1:c.2286dup, XM_047422930.1:c.2418dup, XM_047422932.1:c.2286dup, XM_047422935.1:c.2286dup, XM_047422936.1:c.2286dup, XM_047422938.1:c.2286dup, XM_047422933.1:c.2418dup, XM_047422931.1:c.2286dup, XM_047422937.1:c.2286dup, XR_007061261.1:n.2789dup, NP_775821.2:p.Arg799fs, NP_001334931.1:p.Arg714fs, NP_001342476.1:p.Arg807fs, XP_005251456.1:p.Arg807fs, XP_005251455.1:p.Arg807fs, XP_011516093.1:p.Arg763fs, XP_011516098.1:p.Arg650fs, XP_016869922.1:p.Arg807fs, XP_016869931.1:p.Arg807fs, XP_016869920.1:p.Arg807fs, XP_011516090.1:p.Arg807fs, XP_016869923.1:p.Arg807fs, XP_016869924.1:p.Arg807fs, XP_005251454.1:p.Arg807fs, XP_016869926.1:p.Arg807fs, XP_016869927.1:p.Arg807fs, XP_016869925.1:p.Arg807fs, XP_016869921.1:p.Arg807fs, XP_016869929.1:p.Arg714fs, XP_016869932.1:p.Arg622fs, XP_047278895.1:p.Arg763fs, XP_047278890.1:p.Arg763fs, XP_047278886.1:p.Arg807fs, XP_047278888.1:p.Arg763fs, XP_047278891.1:p.Arg763fs, XP_047278892.1:p.Arg763fs, XP_047278894.1:p.Arg763fs, XP_047278889.1:p.Arg807fs, XP_047278887.1:p.Arg763fs, XP_047278893.1:p.Arg763fs

                      11.

                      rs1481496264 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:15876775 (GRCh38)
                        9:15876773 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:15876774:A:G
                        Gene:
                        CCDC171 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000015/4 (TOPMED)
                        G=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1481146497 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:15784580 (GRCh38)
                          9:15784578 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:15784579:G:A
                          Gene:
                          CCDC171 (Varview), LOC107987049 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_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_000009.12:g.15784580G>A, NC_000009.11:g.15784578G>A, NG_052634.1:g.236707G>A, NM_173550.4:c.3153G>A, NM_173550.3:c.3153G>A, NM_173550.2:c.3153G>A, NM_001348002.2:c.2898G>A, NM_001348002.1:c.2898G>A, NM_001355547.1:c.3177G>A, XM_005251399.5:c.3177G>A, XM_005251399.4:c.3177G>A, XM_005251399.3:c.3177G>A, XM_005251399.2:c.3177G>A, XM_005251399.1:c.3177G>A, XM_005251398.5:c.3177G>A, XM_005251398.4:c.3177G>A, XM_005251398.3:c.3177G>A, XM_005251398.2:c.3177G>A, XM_005251398.1:c.3177G>A, XM_011517791.4:c.3045G>A, XM_011517791.3:c.3045G>A, XM_011517791.2:c.3045G>A, XM_011517791.1:c.3045G>A, XM_011517796.4:c.2706G>A, XM_011517796.3:c.2706G>A, XM_011517796.2:c.2706G>A, XM_011517796.1:c.2706G>A, XR_001746229.3:n.3548G>A, XR_001746229.2:n.3647G>A, XR_001746229.1:n.3613G>A, XM_017014433.3:c.3177G>A, XM_017014433.2:c.3177G>A, XM_017014433.1:c.3177G>A, XM_017014442.3:c.3177G>A, XM_017014442.2:c.3177G>A, XM_017014442.1:c.3177G>A, XM_017014431.3:c.3177G>A, XM_017014431.2:c.3177G>A, XM_017014431.1:c.3177G>A, XM_011517788.3:c.3177G>A, XM_011517788.2:c.3177G>A, XM_011517788.1:c.3177G>A, XM_017014434.3:c.3177G>A, XM_017014434.2:c.3177G>A, XM_017014434.1:c.3177G>A, XM_017014435.3:c.3177G>A, XM_017014435.2:c.3177G>A, XM_017014435.1:c.3177G>A, XM_005251397.3:c.3177G>A, XM_005251397.2:c.3177G>A, XM_005251397.1:c.3177G>A, XR_001746227.3:n.3548G>A, XR_001746227.2:n.3647G>A, XR_001746227.1:n.3614G>A, XM_017014437.3:c.3177G>A, XM_017014437.2:c.3177G>A, XM_017014437.1:c.3177G>A, XM_017014438.3:c.3177G>A, XM_017014438.2:c.3177G>A, XM_017014438.1:c.3177G>A, XR_001746228.3:n.3548G>A, XR_001746228.2:n.3647G>A, XR_001746228.1:n.3614G>A, XM_017014436.3:c.3177G>A, XM_017014436.2:c.3177G>A, XM_017014436.1:c.3177G>A, XM_017014432.3:c.3177G>A, XM_017014432.2:c.3177G>A, XM_017014432.1:c.3177G>A, XM_017014440.2:c.2898G>A, XM_017014440.1:c.2898G>A, XM_017014443.2:c.2622G>A, XM_017014443.1:c.2622G>A, XM_047422939.1:c.3045G>A, XR_007061262.1:n.3548G>A, XM_047422934.1:c.3045G>A, XM_047422930.1:c.3177G>A, XM_047422932.1:c.3045G>A, XM_047422935.1:c.3045G>A, XM_047422936.1:c.3045G>A, XM_047422938.1:c.3045G>A, XM_047422933.1:c.3177G>A, XM_047422931.1:c.3045G>A, XM_047422937.1:c.3045G>A, XR_007061261.1:n.3548G>A

                          13.

                          rs1480939113 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:15779033 (GRCh38)
                            9:15779031 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:15779032:G:A
                            Gene:
                            CCDC171 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000009.12:g.15779033G>A, NC_000009.11:g.15779031G>A, NG_052634.1:g.231160G>A, NM_173550.4:c.2964G>A, NM_173550.3:c.2964G>A, NM_173550.2:c.2964G>A, NM_001348002.2:c.2709G>A, NM_001348002.1:c.2709G>A, NM_001355547.1:c.2988G>A, XM_005251399.5:c.2988G>A, XM_005251399.4:c.2988G>A, XM_005251399.3:c.2988G>A, XM_005251399.2:c.2988G>A, XM_005251399.1:c.2988G>A, XM_005251398.5:c.2988G>A, XM_005251398.4:c.2988G>A, XM_005251398.3:c.2988G>A, XM_005251398.2:c.2988G>A, XM_005251398.1:c.2988G>A, XM_011517791.4:c.2856G>A, XM_011517791.3:c.2856G>A, XM_011517791.2:c.2856G>A, XM_011517791.1:c.2856G>A, XM_011517796.4:c.2517G>A, XM_011517796.3:c.2517G>A, XM_011517796.2:c.2517G>A, XM_011517796.1:c.2517G>A, XR_001746229.3:n.3359G>A, XR_001746229.2:n.3458G>A, XR_001746229.1:n.3424G>A, XM_017014433.3:c.2988G>A, XM_017014433.2:c.2988G>A, XM_017014433.1:c.2988G>A, XM_017014442.3:c.2988G>A, XM_017014442.2:c.2988G>A, XM_017014442.1:c.2988G>A, XM_017014431.3:c.2988G>A, XM_017014431.2:c.2988G>A, XM_017014431.1:c.2988G>A, XM_011517788.3:c.2988G>A, XM_011517788.2:c.2988G>A, XM_011517788.1:c.2988G>A, XM_017014434.3:c.2988G>A, XM_017014434.2:c.2988G>A, XM_017014434.1:c.2988G>A, XM_017014435.3:c.2988G>A, XM_017014435.2:c.2988G>A, XM_017014435.1:c.2988G>A, XM_005251397.3:c.2988G>A, XM_005251397.2:c.2988G>A, XM_005251397.1:c.2988G>A, XR_001746227.3:n.3359G>A, XR_001746227.2:n.3458G>A, XR_001746227.1:n.3425G>A, XM_017014437.3:c.2988G>A, XM_017014437.2:c.2988G>A, XM_017014437.1:c.2988G>A, XM_017014438.3:c.2988G>A, XM_017014438.2:c.2988G>A, XM_017014438.1:c.2988G>A, XR_001746228.3:n.3359G>A, XR_001746228.2:n.3458G>A, XR_001746228.1:n.3425G>A, XM_017014436.3:c.2988G>A, XM_017014436.2:c.2988G>A, XM_017014436.1:c.2988G>A, XM_017014432.3:c.2988G>A, XM_017014432.2:c.2988G>A, XM_017014432.1:c.2988G>A, XM_017014440.2:c.2709G>A, XM_017014440.1:c.2709G>A, XM_017014443.2:c.2433G>A, XM_017014443.1:c.2433G>A, XM_047422939.1:c.2856G>A, XR_007061262.1:n.3359G>A, XM_047422934.1:c.2856G>A, XM_047422930.1:c.2988G>A, XM_047422932.1:c.2856G>A, XM_047422935.1:c.2856G>A, XM_047422936.1:c.2856G>A, XM_047422938.1:c.2856G>A, XM_047422933.1:c.2988G>A, XM_047422931.1:c.2856G>A, XM_047422937.1:c.2856G>A, XR_007061261.1:n.3359G>A

                            14.

                            rs1480938315 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:15745592 (GRCh38)
                              9:15745590 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:15745591:A:G
                              Gene:
                              CCDC171 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000009.12:g.15745592A>G, NC_000009.11:g.15745590A>G, NG_052634.1:g.197719A>G, NM_173550.4:c.2632A>G, NM_173550.3:c.2632A>G, NM_173550.2:c.2632A>G, NM_001348002.2:c.2377A>G, NM_001348002.1:c.2377A>G, NM_001355547.1:c.2656A>G, XM_005251399.5:c.2656A>G, XM_005251399.4:c.2656A>G, XM_005251399.3:c.2656A>G, XM_005251399.2:c.2656A>G, XM_005251399.1:c.2656A>G, XM_005251398.5:c.2656A>G, XM_005251398.4:c.2656A>G, XM_005251398.3:c.2656A>G, XM_005251398.2:c.2656A>G, XM_005251398.1:c.2656A>G, XM_011517791.4:c.2524A>G, XM_011517791.3:c.2524A>G, XM_011517791.2:c.2524A>G, XM_011517791.1:c.2524A>G, XM_011517796.4:c.2185A>G, XM_011517796.3:c.2185A>G, XM_011517796.2:c.2185A>G, XM_011517796.1:c.2185A>G, XR_001746229.3:n.3027A>G, XR_001746229.2:n.3126A>G, XR_001746229.1:n.3092A>G, XM_017014433.3:c.2656A>G, XM_017014433.2:c.2656A>G, XM_017014433.1:c.2656A>G, XM_017014442.3:c.2656A>G, XM_017014442.2:c.2656A>G, XM_017014442.1:c.2656A>G, XM_017014431.3:c.2656A>G, XM_017014431.2:c.2656A>G, XM_017014431.1:c.2656A>G, XM_011517788.3:c.2656A>G, XM_011517788.2:c.2656A>G, XM_011517788.1:c.2656A>G, XM_017014434.3:c.2656A>G, XM_017014434.2:c.2656A>G, XM_017014434.1:c.2656A>G, XM_017014435.3:c.2656A>G, XM_017014435.2:c.2656A>G, XM_017014435.1:c.2656A>G, XM_005251397.3:c.2656A>G, XM_005251397.2:c.2656A>G, XM_005251397.1:c.2656A>G, XR_001746227.3:n.3027A>G, XR_001746227.2:n.3126A>G, XR_001746227.1:n.3093A>G, XM_017014437.3:c.2656A>G, XM_017014437.2:c.2656A>G, XM_017014437.1:c.2656A>G, XM_017014438.3:c.2656A>G, XM_017014438.2:c.2656A>G, XM_017014438.1:c.2656A>G, XR_001746228.3:n.3027A>G, XR_001746228.2:n.3126A>G, XR_001746228.1:n.3093A>G, XM_017014436.3:c.2656A>G, XM_017014436.2:c.2656A>G, XM_017014436.1:c.2656A>G, XM_017014432.3:c.2656A>G, XM_017014432.2:c.2656A>G, XM_017014432.1:c.2656A>G, XM_017014440.2:c.2377A>G, XM_017014440.1:c.2377A>G, XM_017014443.2:c.2101A>G, XM_017014443.1:c.2101A>G, XM_047422939.1:c.2524A>G, XR_007061262.1:n.3027A>G, XM_047422934.1:c.2524A>G, XM_047422930.1:c.2656A>G, XM_047422932.1:c.2524A>G, XM_047422935.1:c.2524A>G, XM_047422936.1:c.2524A>G, XM_047422938.1:c.2524A>G, XM_047422933.1:c.2656A>G, XM_047422931.1:c.2524A>G, XM_047422937.1:c.2524A>G, XR_007061261.1:n.3027A>G, NP_775821.2:p.Ser878Gly, NP_001334931.1:p.Ser793Gly, NP_001342476.1:p.Ser886Gly, XP_005251456.1:p.Ser886Gly, XP_005251455.1:p.Ser886Gly, XP_011516093.1:p.Ser842Gly, XP_011516098.1:p.Ser729Gly, XP_016869922.1:p.Ser886Gly, XP_016869931.1:p.Ser886Gly, XP_016869920.1:p.Ser886Gly, XP_011516090.1:p.Ser886Gly, XP_016869923.1:p.Ser886Gly, XP_016869924.1:p.Ser886Gly, XP_005251454.1:p.Ser886Gly, XP_016869926.1:p.Ser886Gly, XP_016869927.1:p.Ser886Gly, XP_016869925.1:p.Ser886Gly, XP_016869921.1:p.Ser886Gly, XP_016869929.1:p.Ser793Gly, XP_016869932.1:p.Ser701Gly, XP_047278895.1:p.Ser842Gly, XP_047278890.1:p.Ser842Gly, XP_047278886.1:p.Ser886Gly, XP_047278888.1:p.Ser842Gly, XP_047278891.1:p.Ser842Gly, XP_047278892.1:p.Ser842Gly, XP_047278894.1:p.Ser842Gly, XP_047278889.1:p.Ser886Gly, XP_047278887.1:p.Ser842Gly, XP_047278893.1:p.Ser842Gly

                              15.

                              rs1480711616 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->AAA [Show Flanks]
                                Chromosome:
                                9:15744343 (GRCh38)
                                9:15744342 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:15744343::AAA
                                Gene:
                                CCDC171 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                AAA=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.15744343_15744344insAAA, NC_000009.11:g.15744341_15744342insAAA, NG_052634.1:g.196470_196471insAAA, NM_173550.4:c.2120_2121insAAA, NM_173550.3:c.2120_2121insAAA, NM_173550.2:c.2120_2121insAAA, NM_001348002.2:c.1865_1866insAAA, NM_001348002.1:c.1865_1866insAAA, NM_001355547.1:c.2144_2145insAAA, XM_005251399.5:c.2144_2145insAAA, XM_005251399.4:c.2144_2145insAAA, XM_005251399.3:c.2144_2145insAAA, XM_005251399.2:c.2144_2145insAAA, XM_005251399.1:c.2144_2145insAAA, XM_005251398.5:c.2144_2145insAAA, XM_005251398.4:c.2144_2145insAAA, XM_005251398.3:c.2144_2145insAAA, XM_005251398.2:c.2144_2145insAAA, XM_005251398.1:c.2144_2145insAAA, XM_011517791.4:c.2012_2013insAAA, XM_011517791.3:c.2012_2013insAAA, XM_011517791.2:c.2012_2013insAAA, XM_011517791.1:c.2012_2013insAAA, XM_011517796.4:c.1673_1674insAAA, XM_011517796.3:c.1673_1674insAAA, XM_011517796.2:c.1673_1674insAAA, XM_011517796.1:c.1673_1674insAAA, XR_001746229.3:n.2515_2516insAAA, XR_001746229.2:n.2614_2615insAAA, XR_001746229.1:n.2580_2581insAAA, XM_017014433.3:c.2144_2145insAAA, XM_017014433.2:c.2144_2145insAAA, XM_017014433.1:c.2144_2145insAAA, XM_017014442.3:c.2144_2145insAAA, XM_017014442.2:c.2144_2145insAAA, XM_017014442.1:c.2144_2145insAAA, XM_017014431.3:c.2144_2145insAAA, XM_017014431.2:c.2144_2145insAAA, XM_017014431.1:c.2144_2145insAAA, XM_011517788.3:c.2144_2145insAAA, XM_011517788.2:c.2144_2145insAAA, XM_011517788.1:c.2144_2145insAAA, XM_017014434.3:c.2144_2145insAAA, XM_017014434.2:c.2144_2145insAAA, XM_017014434.1:c.2144_2145insAAA, XM_017014435.3:c.2144_2145insAAA, XM_017014435.2:c.2144_2145insAAA, XM_017014435.1:c.2144_2145insAAA, XM_005251397.3:c.2144_2145insAAA, XM_005251397.2:c.2144_2145insAAA, XM_005251397.1:c.2144_2145insAAA, XR_001746227.3:n.2515_2516insAAA, XR_001746227.2:n.2614_2615insAAA, XR_001746227.1:n.2581_2582insAAA, XM_017014437.3:c.2144_2145insAAA, XM_017014437.2:c.2144_2145insAAA, XM_017014437.1:c.2144_2145insAAA, XM_017014438.3:c.2144_2145insAAA, XM_017014438.2:c.2144_2145insAAA, XM_017014438.1:c.2144_2145insAAA, XR_001746228.3:n.2515_2516insAAA, XR_001746228.2:n.2614_2615insAAA, XR_001746228.1:n.2581_2582insAAA, XM_017014436.3:c.2144_2145insAAA, XM_017014436.2:c.2144_2145insAAA, XM_017014436.1:c.2144_2145insAAA, XM_017014432.3:c.2144_2145insAAA, XM_017014432.2:c.2144_2145insAAA, XM_017014432.1:c.2144_2145insAAA, XM_017014440.2:c.1865_1866insAAA, XM_017014440.1:c.1865_1866insAAA, XM_017014443.2:c.1589_1590insAAA, XM_017014443.1:c.1589_1590insAAA, XM_047422939.1:c.2012_2013insAAA, XR_007061262.1:n.2515_2516insAAA, XM_047422934.1:c.2012_2013insAAA, XM_047422930.1:c.2144_2145insAAA, XM_047422932.1:c.2012_2013insAAA, XM_047422935.1:c.2012_2013insAAA, XM_047422936.1:c.2012_2013insAAA, XM_047422938.1:c.2012_2013insAAA, XM_047422933.1:c.2144_2145insAAA, XM_047422931.1:c.2012_2013insAAA, XM_047422937.1:c.2012_2013insAAA, XR_007061261.1:n.2515_2516insAAA, NP_775821.2:p.Leu708_Glu709insAsn, NP_001334931.1:p.Leu623_Glu624insAsn, NP_001342476.1:p.Leu716_Glu717insAsn, XP_005251456.1:p.Leu716_Glu717insAsn, XP_005251455.1:p.Leu716_Glu717insAsn, XP_011516093.1:p.Leu672_Glu673insAsn, XP_011516098.1:p.Leu559_Glu560insAsn, XP_016869922.1:p.Leu716_Glu717insAsn, XP_016869931.1:p.Leu716_Glu717insAsn, XP_016869920.1:p.Leu716_Glu717insAsn, XP_011516090.1:p.Leu716_Glu717insAsn, XP_016869923.1:p.Leu716_Glu717insAsn, XP_016869924.1:p.Leu716_Glu717insAsn, XP_005251454.1:p.Leu716_Glu717insAsn, XP_016869926.1:p.Leu716_Glu717insAsn, XP_016869927.1:p.Leu716_Glu717insAsn, XP_016869925.1:p.Leu716_Glu717insAsn, XP_016869921.1:p.Leu716_Glu717insAsn, XP_016869929.1:p.Leu623_Glu624insAsn, XP_016869932.1:p.Leu531_Glu532insAsn, XP_047278895.1:p.Leu672_Glu673insAsn, XP_047278890.1:p.Leu672_Glu673insAsn, XP_047278886.1:p.Leu716_Glu717insAsn, XP_047278888.1:p.Leu672_Glu673insAsn, XP_047278891.1:p.Leu672_Glu673insAsn, XP_047278892.1:p.Leu672_Glu673insAsn, XP_047278894.1:p.Leu672_Glu673insAsn, XP_047278889.1:p.Leu716_Glu717insAsn, XP_047278887.1:p.Leu672_Glu673insAsn, XP_047278893.1:p.Leu672_Glu673insAsn

                                16.

                                rs1477990794 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  9:15744625 (GRCh38)
                                  9:15744623 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:15744624:T:A
                                  Gene:
                                  CCDC171 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.15744625T>A, NC_000009.11:g.15744623T>A, NG_052634.1:g.196752T>A, NM_173550.4:c.2402T>A, NM_173550.3:c.2402T>A, NM_173550.2:c.2402T>A, NM_001348002.2:c.2147T>A, NM_001348002.1:c.2147T>A, NM_001355547.1:c.2426T>A, XM_005251399.5:c.2426T>A, XM_005251399.4:c.2426T>A, XM_005251399.3:c.2426T>A, XM_005251399.2:c.2426T>A, XM_005251399.1:c.2426T>A, XM_005251398.5:c.2426T>A, XM_005251398.4:c.2426T>A, XM_005251398.3:c.2426T>A, XM_005251398.2:c.2426T>A, XM_005251398.1:c.2426T>A, XM_011517791.4:c.2294T>A, XM_011517791.3:c.2294T>A, XM_011517791.2:c.2294T>A, XM_011517791.1:c.2294T>A, XM_011517796.4:c.1955T>A, XM_011517796.3:c.1955T>A, XM_011517796.2:c.1955T>A, XM_011517796.1:c.1955T>A, XR_001746229.3:n.2797T>A, XR_001746229.2:n.2896T>A, XR_001746229.1:n.2862T>A, XM_017014433.3:c.2426T>A, XM_017014433.2:c.2426T>A, XM_017014433.1:c.2426T>A, XM_017014442.3:c.2426T>A, XM_017014442.2:c.2426T>A, XM_017014442.1:c.2426T>A, XM_017014431.3:c.2426T>A, XM_017014431.2:c.2426T>A, XM_017014431.1:c.2426T>A, XM_011517788.3:c.2426T>A, XM_011517788.2:c.2426T>A, XM_011517788.1:c.2426T>A, XM_017014434.3:c.2426T>A, XM_017014434.2:c.2426T>A, XM_017014434.1:c.2426T>A, XM_017014435.3:c.2426T>A, XM_017014435.2:c.2426T>A, XM_017014435.1:c.2426T>A, XM_005251397.3:c.2426T>A, XM_005251397.2:c.2426T>A, XM_005251397.1:c.2426T>A, XR_001746227.3:n.2797T>A, XR_001746227.2:n.2896T>A, XR_001746227.1:n.2863T>A, XM_017014437.3:c.2426T>A, XM_017014437.2:c.2426T>A, XM_017014437.1:c.2426T>A, XM_017014438.3:c.2426T>A, XM_017014438.2:c.2426T>A, XM_017014438.1:c.2426T>A, XR_001746228.3:n.2797T>A, XR_001746228.2:n.2896T>A, XR_001746228.1:n.2863T>A, XM_017014436.3:c.2426T>A, XM_017014436.2:c.2426T>A, XM_017014436.1:c.2426T>A, XM_017014432.3:c.2426T>A, XM_017014432.2:c.2426T>A, XM_017014432.1:c.2426T>A, XM_017014440.2:c.2147T>A, XM_017014440.1:c.2147T>A, XM_017014443.2:c.1871T>A, XM_017014443.1:c.1871T>A, XM_047422939.1:c.2294T>A, XR_007061262.1:n.2797T>A, XM_047422934.1:c.2294T>A, XM_047422930.1:c.2426T>A, XM_047422932.1:c.2294T>A, XM_047422935.1:c.2294T>A, XM_047422936.1:c.2294T>A, XM_047422938.1:c.2294T>A, XM_047422933.1:c.2426T>A, XM_047422931.1:c.2294T>A, XM_047422937.1:c.2294T>A, XR_007061261.1:n.2797T>A, NP_775821.2:p.Phe801Tyr, NP_001334931.1:p.Phe716Tyr, NP_001342476.1:p.Phe809Tyr, XP_005251456.1:p.Phe809Tyr, XP_005251455.1:p.Phe809Tyr, XP_011516093.1:p.Phe765Tyr, XP_011516098.1:p.Phe652Tyr, XP_016869922.1:p.Phe809Tyr, XP_016869931.1:p.Phe809Tyr, XP_016869920.1:p.Phe809Tyr, XP_011516090.1:p.Phe809Tyr, XP_016869923.1:p.Phe809Tyr, XP_016869924.1:p.Phe809Tyr, XP_005251454.1:p.Phe809Tyr, XP_016869926.1:p.Phe809Tyr, XP_016869927.1:p.Phe809Tyr, XP_016869925.1:p.Phe809Tyr, XP_016869921.1:p.Phe809Tyr, XP_016869929.1:p.Phe716Tyr, XP_016869932.1:p.Phe624Tyr, XP_047278895.1:p.Phe765Tyr, XP_047278890.1:p.Phe765Tyr, XP_047278886.1:p.Phe809Tyr, XP_047278888.1:p.Phe765Tyr, XP_047278891.1:p.Phe765Tyr, XP_047278892.1:p.Phe765Tyr, XP_047278894.1:p.Phe765Tyr, XP_047278889.1:p.Phe809Tyr, XP_047278887.1:p.Phe765Tyr, XP_047278893.1:p.Phe765Tyr

                                  17.

                                  rs1476969157 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    9:15729634 (GRCh38)
                                    9:15729632 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:15729633:A:T
                                    Gene:
                                    CCDC171 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,stop_gained
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.15729634A>T, NC_000009.11:g.15729632A>T, NG_052634.1:g.181761A>T, NM_173550.4:c.1885A>T, NM_173550.3:c.1885A>T, NM_173550.2:c.1885A>T, NM_001348002.2:c.1630A>T, NM_001348002.1:c.1630A>T, NM_001355547.1:c.1909A>T, XM_005251399.5:c.1909A>T, XM_005251399.4:c.1909A>T, XM_005251399.3:c.1909A>T, XM_005251399.2:c.1909A>T, XM_005251399.1:c.1909A>T, XM_005251398.5:c.1909A>T, XM_005251398.4:c.1909A>T, XM_005251398.3:c.1909A>T, XM_005251398.2:c.1909A>T, XM_005251398.1:c.1909A>T, XM_011517791.4:c.1777A>T, XM_011517791.3:c.1777A>T, XM_011517791.2:c.1777A>T, XM_011517791.1:c.1777A>T, XM_011517796.4:c.1438A>T, XM_011517796.3:c.1438A>T, XM_011517796.2:c.1438A>T, XM_011517796.1:c.1438A>T, XR_001746229.3:n.2280A>T, XR_001746229.2:n.2379A>T, XR_001746229.1:n.2345A>T, XM_017014433.3:c.1909A>T, XM_017014433.2:c.1909A>T, XM_017014433.1:c.1909A>T, XM_017014442.3:c.1909A>T, XM_017014442.2:c.1909A>T, XM_017014442.1:c.1909A>T, XM_017014431.3:c.1909A>T, XM_017014431.2:c.1909A>T, XM_017014431.1:c.1909A>T, XM_011517788.3:c.1909A>T, XM_011517788.2:c.1909A>T, XM_011517788.1:c.1909A>T, XM_017014434.3:c.1909A>T, XM_017014434.2:c.1909A>T, XM_017014434.1:c.1909A>T, XM_017014435.3:c.1909A>T, XM_017014435.2:c.1909A>T, XM_017014435.1:c.1909A>T, XM_005251397.3:c.1909A>T, XM_005251397.2:c.1909A>T, XM_005251397.1:c.1909A>T, XR_001746227.3:n.2280A>T, XR_001746227.2:n.2379A>T, XR_001746227.1:n.2346A>T, XM_017014437.3:c.1909A>T, XM_017014437.2:c.1909A>T, XM_017014437.1:c.1909A>T, XM_017014438.3:c.1909A>T, XM_017014438.2:c.1909A>T, XM_017014438.1:c.1909A>T, XR_001746228.3:n.2280A>T, XR_001746228.2:n.2379A>T, XR_001746228.1:n.2346A>T, XM_017014436.3:c.1909A>T, XM_017014436.2:c.1909A>T, XM_017014436.1:c.1909A>T, XM_017014432.3:c.1909A>T, XM_017014432.2:c.1909A>T, XM_017014432.1:c.1909A>T, XM_017014440.2:c.1630A>T, XM_017014440.1:c.1630A>T, XM_017014443.2:c.1354A>T, XM_017014443.1:c.1354A>T, XM_047422939.1:c.1777A>T, XR_007061262.1:n.2280A>T, XM_047422934.1:c.1777A>T, XM_047422930.1:c.1909A>T, XM_047422932.1:c.1777A>T, XM_047422935.1:c.1777A>T, XM_047422936.1:c.1777A>T, XM_047422938.1:c.1777A>T, XM_047422933.1:c.1909A>T, XM_047422931.1:c.1777A>T, XM_047422937.1:c.1777A>T, XR_007061261.1:n.2280A>T, NP_775821.2:p.Lys629Ter, NP_001334931.1:p.Lys544Ter, NP_001342476.1:p.Lys637Ter, XP_005251456.1:p.Lys637Ter, XP_005251455.1:p.Lys637Ter, XP_011516093.1:p.Lys593Ter, XP_011516098.1:p.Lys480Ter, XP_016869922.1:p.Lys637Ter, XP_016869931.1:p.Lys637Ter, XP_016869920.1:p.Lys637Ter, XP_011516090.1:p.Lys637Ter, XP_016869923.1:p.Lys637Ter, XP_016869924.1:p.Lys637Ter, XP_005251454.1:p.Lys637Ter, XP_016869926.1:p.Lys637Ter, XP_016869927.1:p.Lys637Ter, XP_016869925.1:p.Lys637Ter, XP_016869921.1:p.Lys637Ter, XP_016869929.1:p.Lys544Ter, XP_016869932.1:p.Lys452Ter, XP_047278895.1:p.Lys593Ter, XP_047278890.1:p.Lys593Ter, XP_047278886.1:p.Lys637Ter, XP_047278888.1:p.Lys593Ter, XP_047278891.1:p.Lys593Ter, XP_047278892.1:p.Lys593Ter, XP_047278894.1:p.Lys593Ter, XP_047278889.1:p.Lys637Ter, XP_047278887.1:p.Lys593Ter, XP_047278893.1:p.Lys593Ter

                                    18.

                                    rs1476713051 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:15678885 (GRCh38)
                                      9:15678883 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:15678884:G:A
                                      Gene:
                                      CCDC171 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.15678885G>A, NC_000009.11:g.15678883G>A, NG_052634.1:g.131012G>A, NM_173550.4:c.1204G>A, NM_173550.3:c.1204G>A, NM_173550.2:c.1204G>A, NM_001348002.2:c.925G>A, NM_001348002.1:c.925G>A, NM_001355547.1:c.1204G>A, XM_005251399.5:c.1204G>A, XM_005251399.4:c.1204G>A, XM_005251399.3:c.1204G>A, XM_005251399.2:c.1204G>A, XM_005251399.1:c.1204G>A, XM_005251398.5:c.1204G>A, XM_005251398.4:c.1204G>A, XM_005251398.3:c.1204G>A, XM_005251398.2:c.1204G>A, XM_005251398.1:c.1204G>A, XM_011517791.4:c.1072G>A, XM_011517791.3:c.1072G>A, XM_011517791.2:c.1072G>A, XM_011517791.1:c.1072G>A, XM_011517796.4:c.733G>A, XM_011517796.3:c.733G>A, XM_011517796.2:c.733G>A, XM_011517796.1:c.733G>A, XR_001746229.3:n.1575G>A, XR_001746229.2:n.1674G>A, XR_001746229.1:n.1640G>A, XM_017014433.3:c.1204G>A, XM_017014433.2:c.1204G>A, XM_017014433.1:c.1204G>A, XM_017014442.3:c.1204G>A, XM_017014442.2:c.1204G>A, XM_017014442.1:c.1204G>A, XM_017014431.3:c.1204G>A, XM_017014431.2:c.1204G>A, XM_017014431.1:c.1204G>A, XM_011517788.3:c.1204G>A, XM_011517788.2:c.1204G>A, XM_011517788.1:c.1204G>A, XM_017014434.3:c.1204G>A, XM_017014434.2:c.1204G>A, XM_017014434.1:c.1204G>A, XM_017014435.3:c.1204G>A, XM_017014435.2:c.1204G>A, XM_017014435.1:c.1204G>A, XM_005251397.3:c.1204G>A, XM_005251397.2:c.1204G>A, XM_005251397.1:c.1204G>A, XR_001746227.3:n.1575G>A, XR_001746227.2:n.1674G>A, XR_001746227.1:n.1641G>A, XM_017014437.3:c.1204G>A, XM_017014437.2:c.1204G>A, XM_017014437.1:c.1204G>A, XM_017014438.3:c.1204G>A, XM_017014438.2:c.1204G>A, XM_017014438.1:c.1204G>A, XR_001746228.3:n.1575G>A, XR_001746228.2:n.1674G>A, XR_001746228.1:n.1641G>A, XM_017014436.3:c.1204G>A, XM_017014436.2:c.1204G>A, XM_017014436.1:c.1204G>A, XM_017014432.3:c.1204G>A, XM_017014432.2:c.1204G>A, XM_017014432.1:c.1204G>A, XM_017014440.2:c.925G>A, XM_017014440.1:c.925G>A, XM_017014443.2:c.649G>A, XM_017014443.1:c.649G>A, XM_047422939.1:c.1072G>A, XR_007061262.1:n.1575G>A, XM_047422934.1:c.1072G>A, XM_047422930.1:c.1204G>A, XM_047422932.1:c.1072G>A, XM_047422935.1:c.1072G>A, XM_047422936.1:c.1072G>A, XM_047422938.1:c.1072G>A, XM_047422933.1:c.1204G>A, XM_047422931.1:c.1072G>A, XM_047422937.1:c.1072G>A, XR_007061261.1:n.1575G>A, NP_775821.2:p.Glu402Lys, NP_001334931.1:p.Glu309Lys, NP_001342476.1:p.Glu402Lys, XP_005251456.1:p.Glu402Lys, XP_005251455.1:p.Glu402Lys, XP_011516093.1:p.Glu358Lys, XP_011516098.1:p.Glu245Lys, XP_016869922.1:p.Glu402Lys, XP_016869931.1:p.Glu402Lys, XP_016869920.1:p.Glu402Lys, XP_011516090.1:p.Glu402Lys, XP_016869923.1:p.Glu402Lys, XP_016869924.1:p.Glu402Lys, XP_005251454.1:p.Glu402Lys, XP_016869926.1:p.Glu402Lys, XP_016869927.1:p.Glu402Lys, XP_016869925.1:p.Glu402Lys, XP_016869921.1:p.Glu402Lys, XP_016869929.1:p.Glu309Lys, XP_016869932.1:p.Glu217Lys, XP_047278895.1:p.Glu358Lys, XP_047278890.1:p.Glu358Lys, XP_047278886.1:p.Glu402Lys, XP_047278888.1:p.Glu358Lys, XP_047278891.1:p.Glu358Lys, XP_047278892.1:p.Glu358Lys, XP_047278894.1:p.Glu358Lys, XP_047278889.1:p.Glu402Lys, XP_047278887.1:p.Glu358Lys, XP_047278893.1:p.Glu358Lys

                                      19.

                                      rs1476703671 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        9:15591518 (GRCh38)
                                        9:15591516 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:15591517:C:A
                                        Gene:
                                        CCDC171 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.15591518C>A, NC_000009.11:g.15591516C>A, NG_052634.1:g.43645C>A, NM_173550.4:c.505C>A, NM_173550.3:c.505C>A, NM_173550.2:c.505C>A, NM_001348002.2:c.226C>A, NM_001348002.1:c.226C>A, NM_001355547.1:c.505C>A, XM_005251399.5:c.505C>A, XM_005251399.4:c.505C>A, XM_005251399.3:c.505C>A, XM_005251399.2:c.505C>A, XM_005251399.1:c.505C>A, XM_005251398.5:c.505C>A, XM_005251398.4:c.505C>A, XM_005251398.3:c.505C>A, XM_005251398.2:c.505C>A, XM_005251398.1:c.505C>A, XM_011517791.4:c.505C>A, XM_011517791.3:c.505C>A, XM_011517791.2:c.505C>A, XM_011517791.1:c.505C>A, XM_011517796.4:c.34C>A, XM_011517796.3:c.34C>A, XM_011517796.2:c.34C>A, XM_011517796.1:c.34C>A, XR_001746229.3:n.876C>A, XR_001746229.2:n.975C>A, XR_001746229.1:n.941C>A, XM_017014433.3:c.505C>A, XM_017014433.2:c.505C>A, XM_017014433.1:c.505C>A, XM_017014442.3:c.505C>A, XM_017014442.2:c.505C>A, XM_017014442.1:c.505C>A, XM_017014431.3:c.505C>A, XM_017014431.2:c.505C>A, XM_017014431.1:c.505C>A, XM_011517788.3:c.505C>A, XM_011517788.2:c.505C>A, XM_011517788.1:c.505C>A, XM_017014434.3:c.505C>A, XM_017014434.2:c.505C>A, XM_017014434.1:c.505C>A, XM_017014435.3:c.505C>A, XM_017014435.2:c.505C>A, XM_017014435.1:c.505C>A, XM_005251397.3:c.505C>A, XM_005251397.2:c.505C>A, XM_005251397.1:c.505C>A, XR_001746227.3:n.876C>A, XR_001746227.2:n.975C>A, XR_001746227.1:n.942C>A, XM_017014437.3:c.505C>A, XM_017014437.2:c.505C>A, XM_017014437.1:c.505C>A, XM_017014438.3:c.505C>A, XM_017014438.2:c.505C>A, XM_017014438.1:c.505C>A, XR_001746228.3:n.876C>A, XR_001746228.2:n.975C>A, XR_001746228.1:n.942C>A, XM_017014436.3:c.505C>A, XM_017014436.2:c.505C>A, XM_017014436.1:c.505C>A, XM_017014432.3:c.505C>A, XM_017014432.2:c.505C>A, XM_017014432.1:c.505C>A, XM_017014440.2:c.226C>A, XM_017014440.1:c.226C>A, XM_047422939.1:c.505C>A, XR_007061262.1:n.876C>A, XM_047422934.1:c.505C>A, XM_047422930.1:c.505C>A, XM_047422932.1:c.505C>A, XM_047422935.1:c.505C>A, XM_047422936.1:c.505C>A, XM_047422938.1:c.505C>A, XM_047422933.1:c.505C>A, XM_047422931.1:c.505C>A, XM_047422937.1:c.505C>A, XR_007061261.1:n.876C>A, NP_775821.2:p.Leu169Ile, NP_001334931.1:p.Leu76Ile, NP_001342476.1:p.Leu169Ile, XP_005251456.1:p.Leu169Ile, XP_005251455.1:p.Leu169Ile, XP_011516093.1:p.Leu169Ile, XP_011516098.1:p.Leu12Ile, XP_016869922.1:p.Leu169Ile, XP_016869931.1:p.Leu169Ile, XP_016869920.1:p.Leu169Ile, XP_011516090.1:p.Leu169Ile, XP_016869923.1:p.Leu169Ile, XP_016869924.1:p.Leu169Ile, XP_005251454.1:p.Leu169Ile, XP_016869926.1:p.Leu169Ile, XP_016869927.1:p.Leu169Ile, XP_016869925.1:p.Leu169Ile, XP_016869921.1:p.Leu169Ile, XP_016869929.1:p.Leu76Ile, XP_047278895.1:p.Leu169Ile, XP_047278890.1:p.Leu169Ile, XP_047278886.1:p.Leu169Ile, XP_047278888.1:p.Leu169Ile, XP_047278891.1:p.Leu169Ile, XP_047278892.1:p.Leu169Ile, XP_047278894.1:p.Leu169Ile, XP_047278889.1:p.Leu169Ile, XP_047278887.1:p.Leu169Ile, XP_047278893.1:p.Leu169Ile

                                        20.

                                        rs1476336275 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:15594061 (GRCh38)
                                          9:15594059 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:15594060:A:G
                                          Gene:
                                          CCDC171 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.15594061A>G, NC_000009.11:g.15594059A>G, NG_052634.1:g.46188A>G, NM_173550.4:c.564A>G, NM_173550.3:c.564A>G, NM_173550.2:c.564A>G, NM_001348002.2:c.285A>G, NM_001348002.1:c.285A>G, NM_001355547.1:c.564A>G, XM_005251399.5:c.564A>G, XM_005251399.4:c.564A>G, XM_005251399.3:c.564A>G, XM_005251399.2:c.564A>G, XM_005251399.1:c.564A>G, XM_005251398.5:c.564A>G, XM_005251398.4:c.564A>G, XM_005251398.3:c.564A>G, XM_005251398.2:c.564A>G, XM_005251398.1:c.564A>G, XM_011517796.4:c.93A>G, XM_011517796.3:c.93A>G, XM_011517796.2:c.93A>G, XM_011517796.1:c.93A>G, XR_001746229.3:n.935A>G, XR_001746229.2:n.1034A>G, XR_001746229.1:n.1000A>G, XM_017014433.3:c.564A>G, XM_017014433.2:c.564A>G, XM_017014433.1:c.564A>G, XM_017014442.3:c.564A>G, XM_017014442.2:c.564A>G, XM_017014442.1:c.564A>G, XM_017014431.3:c.564A>G, XM_017014431.2:c.564A>G, XM_017014431.1:c.564A>G, XM_011517788.3:c.564A>G, XM_011517788.2:c.564A>G, XM_011517788.1:c.564A>G, XM_017014434.3:c.564A>G, XM_017014434.2:c.564A>G, XM_017014434.1:c.564A>G, XM_017014435.3:c.564A>G, XM_017014435.2:c.564A>G, XM_017014435.1:c.564A>G, XM_005251397.3:c.564A>G, XM_005251397.2:c.564A>G, XM_005251397.1:c.564A>G, XR_001746227.3:n.935A>G, XR_001746227.2:n.1034A>G, XR_001746227.1:n.1001A>G, XM_017014437.3:c.564A>G, XM_017014437.2:c.564A>G, XM_017014437.1:c.564A>G, XM_017014438.3:c.564A>G, XM_017014438.2:c.564A>G, XM_017014438.1:c.564A>G, XR_001746228.3:n.935A>G, XR_001746228.2:n.1034A>G, XR_001746228.1:n.1001A>G, XM_017014436.3:c.564A>G, XM_017014436.2:c.564A>G, XM_017014436.1:c.564A>G, XM_017014432.3:c.564A>G, XM_017014432.2:c.564A>G, XM_017014432.1:c.564A>G, XM_017014440.2:c.285A>G, XM_017014440.1:c.285A>G, XM_017014443.2:c.-72A>G, XM_017014443.1:c.-72A>G, XR_007061262.1:n.935A>G, XM_047422930.1:c.564A>G, XM_047422933.1:c.564A>G, XR_007061261.1:n.935A>G

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