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Items: 1 to 20 of 189

1.

rs1471945086 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:118533104 (GRCh38)
    11:118403819 (GRCh37)
    Canonical SPDI:
    NC_000011.10:118533103:C:T
    Gene:
    TMEM25 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000011.10:g.118533104C>T, NC_000011.9:g.118403819C>T, NW_003871072.2:g.158542C>T, NM_032780.4:c.570C>T, NM_032780.3:c.570C>T, XM_017018422.3:c.570C>T, XM_017018422.2:c.570C>T, XM_017018422.1:c.570C>T, XM_017018430.3:c.570C>T, XM_017018430.2:c.570C>T, XM_017018430.1:c.570C>T, XM_017018432.3:c.474C>T, XM_017018432.2:c.474C>T, XM_017018432.1:c.474C>T, XM_017018433.3:c.474C>T, XM_017018433.2:c.474C>T, XM_017018433.1:c.474C>T, XM_006718926.3:c.570C>T, XM_006718926.2:c.570C>T, XM_006718926.1:c.570C>T, XM_011543038.3:c.570C>T, XM_011543038.2:c.570C>T, XM_011543038.1:c.570C>T, XM_024448724.2:c.570C>T, XM_024448724.1:c.570C>T, NM_001144034.2:c.570C>T, NM_001144034.1:c.570C>T, NM_001144035.2:c.570C>T, NM_001144035.1:c.570C>T, NM_001144037.2:c.570C>T, NM_001144037.1:c.570C>T, NM_001144038.2:c.570C>T, NM_001144038.1:c.570C>T, NM_001144036.2:c.258C>T, NM_001144036.1:c.258C>T, NR_134852.2:n.231C>T, NR_134852.1:n.335C>T, XM_005271703.2:c.570C>T, XM_005271703.1:c.570C>T, NM_001318755.2:c.570C>T, NM_001318755.1:c.570C>T, XM_047427721.1:c.570C>T, XM_047427723.1:c.570C>T, XM_047427735.1:c.474C>T, XM_047427725.1:c.570C>T, XM_047427744.1:c.474C>T, XM_047427741.1:c.570C>T, XM_047427743.1:c.570C>T, XM_047427722.1:c.570C>T, XM_047427724.1:c.570C>T, XM_047427734.1:c.474C>T, XM_047427738.1:c.474C>T, XM_047427736.1:c.474C>T, XM_047427737.1:c.474C>T, XM_047427727.1:c.570C>T, XM_047427726.1:c.570C>T, XM_047427745.1:c.474C>T, XM_047427739.1:c.474C>T, XM_047427740.1:c.570C>T, XM_047427742.1:c.570C>T, XM_047427746.1:c.474C>T, XM_047427720.1:c.570C>T, XM_047427730.1:c.474C>T, XM_047427733.1:c.570C>T, XM_047427728.1:c.474C>T, XM_047427729.1:c.474C>T, XM_047427731.1:c.570C>T, XM_047427732.1:c.570C>T

    2.

    rs1459101205 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      11:118534552 (GRCh38)
      11:118405267 (GRCh37)
      Canonical SPDI:
      NC_000011.10:118534551:G:A,NC_000011.10:118534551:G:T
      Gene:
      TMEM25 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000043/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000011.10:g.118534552G>A, NC_000011.10:g.118534552G>T, NC_000011.9:g.118405267G>A, NC_000011.9:g.118405267G>T, NW_003871072.2:g.159990G>A, NW_003871072.2:g.159990G>T, NM_032780.4:c.1073G>A, NM_032780.4:c.1073G>T, NM_032780.3:c.1073G>A, NM_032780.3:c.1073G>T, XM_017018422.3:c.1073G>A, XM_017018422.3:c.1073G>T, XM_017018422.2:c.1073G>A, XM_017018422.2:c.1073G>T, XM_017018422.1:c.1073G>A, XM_017018422.1:c.1073G>T, XM_017018430.3:c.938G>A, XM_017018430.3:c.938G>T, XM_017018430.2:c.938G>A, XM_017018430.2:c.938G>T, XM_017018430.1:c.938G>A, XM_017018430.1:c.938G>T, XM_017018432.3:c.845G>A, XM_017018432.3:c.845G>T, XM_017018432.2:c.845G>A, XM_017018432.2:c.845G>T, XM_017018432.1:c.845G>A, XM_017018432.1:c.845G>T, XM_017018433.3:c.845G>A, XM_017018433.3:c.845G>T, XM_017018433.2:c.845G>A, XM_017018433.2:c.845G>T, XM_017018433.1:c.845G>A, XM_017018433.1:c.845G>T, XM_024448724.2:c.941G>A, XM_024448724.2:c.941G>T, XM_024448724.1:c.941G>A, XM_024448724.1:c.941G>T, NM_001144034.2:c.941G>A, NM_001144034.2:c.941G>T, NM_001144034.1:c.941G>A, NM_001144034.1:c.941G>T, NM_001144035.2:c.941G>A, NM_001144035.2:c.941G>T, NM_001144035.1:c.941G>A, NM_001144035.1:c.941G>T, NM_001318757.2:c.782G>A, NM_001318757.2:c.782G>T, NM_001318757.1:c.782G>A, NM_001318757.1:c.782G>T, NM_001144036.2:c.629G>A, NM_001144036.2:c.629G>T, NM_001144036.1:c.629G>A, NM_001144036.1:c.629G>T, NR_134852.2:n.602G>A, NR_134852.2:n.602G>T, NR_134852.1:n.706G>A, NR_134852.1:n.706G>T, XM_047427721.1:c.1073G>A, XM_047427721.1:c.1073G>T, XM_047427723.1:c.1070G>A, XM_047427723.1:c.1070G>T, XM_047427735.1:c.977G>A, XM_047427735.1:c.977G>T, XM_047427744.1:c.845G>A, XM_047427744.1:c.845G>T, XM_047427722.1:c.1070G>A, XM_047427722.1:c.1070G>T, XM_047427724.1:c.1070G>A, XM_047427724.1:c.1070G>T, XM_047427734.1:c.977G>A, XM_047427734.1:c.977G>T, XM_047427738.1:c.974G>A, XM_047427738.1:c.974G>T, XM_047427736.1:c.977G>A, XM_047427736.1:c.977G>T, XM_047427737.1:c.974G>A, XM_047427737.1:c.974G>T, XM_047427745.1:c.842G>A, XM_047427745.1:c.842G>T, NP_116169.2:p.Ser358Asn, NP_116169.2:p.Ser358Ile, XP_016873911.1:p.Ser358Asn, XP_016873911.1:p.Ser358Ile, XP_016873919.1:p.Ser313Asn, XP_016873919.1:p.Ser313Ile, XP_016873921.1:p.Ser282Asn, XP_016873921.1:p.Ser282Ile, XP_016873922.1:p.Ser282Asn, XP_016873922.1:p.Ser282Ile, XP_024304492.1:p.Ser314Asn, XP_024304492.1:p.Ser314Ile, NP_001137506.1:p.Ser314Asn, NP_001137506.1:p.Ser314Ile, NP_001137507.1:p.Ser314Asn, NP_001137507.1:p.Ser314Ile, NP_001305686.1:p.Ser261Asn, NP_001305686.1:p.Ser261Ile, NP_001137508.1:p.Ser210Asn, NP_001137508.1:p.Ser210Ile, XP_047283677.1:p.Ser358Asn, XP_047283677.1:p.Ser358Ile, XP_047283679.1:p.Ser357Asn, XP_047283679.1:p.Ser357Ile, XP_047283691.1:p.Ser326Asn, XP_047283691.1:p.Ser326Ile, XP_047283700.1:p.Ser282Asn, XP_047283700.1:p.Ser282Ile, XP_047283678.1:p.Ser357Asn, XP_047283678.1:p.Ser357Ile, XP_047283680.1:p.Ser357Asn, XP_047283680.1:p.Ser357Ile, XP_047283690.1:p.Ser326Asn, XP_047283690.1:p.Ser326Ile, XP_047283694.1:p.Ser325Asn, XP_047283694.1:p.Ser325Ile, XP_047283692.1:p.Ser326Asn, XP_047283692.1:p.Ser326Ile, XP_047283693.1:p.Ser325Asn, XP_047283693.1:p.Ser325Ile, XP_047283701.1:p.Ser281Asn, XP_047283701.1:p.Ser281Ile

      3.

      rs1457243950 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:118533114 (GRCh38)
        11:118403829 (GRCh37)
        Canonical SPDI:
        NC_000011.10:118533113:A:G
        Gene:
        TMEM25 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000011.10:g.118533114A>G, NC_000011.9:g.118403829A>G, NW_003871072.2:g.158552A>G, NM_032780.4:c.580A>G, NM_032780.3:c.580A>G, XM_017018422.3:c.580A>G, XM_017018422.2:c.580A>G, XM_017018422.1:c.580A>G, XM_017018430.3:c.580A>G, XM_017018430.2:c.580A>G, XM_017018430.1:c.580A>G, XM_017018432.3:c.484A>G, XM_017018432.2:c.484A>G, XM_017018432.1:c.484A>G, XM_017018433.3:c.484A>G, XM_017018433.2:c.484A>G, XM_017018433.1:c.484A>G, XM_006718926.3:c.580A>G, XM_006718926.2:c.580A>G, XM_006718926.1:c.580A>G, XM_011543038.3:c.580A>G, XM_011543038.2:c.580A>G, XM_011543038.1:c.580A>G, XM_024448724.2:c.580A>G, XM_024448724.1:c.580A>G, NM_001144034.2:c.580A>G, NM_001144034.1:c.580A>G, NM_001144035.2:c.580A>G, NM_001144035.1:c.580A>G, NM_001144037.2:c.580A>G, NM_001144037.1:c.580A>G, NM_001144038.2:c.580A>G, NM_001144038.1:c.580A>G, NM_001144036.2:c.268A>G, NM_001144036.1:c.268A>G, NR_134852.2:n.241A>G, NR_134852.1:n.345A>G, XM_005271703.2:c.580A>G, XM_005271703.1:c.580A>G, NM_001318755.2:c.580A>G, NM_001318755.1:c.580A>G, XM_047427721.1:c.580A>G, XM_047427723.1:c.580A>G, XM_047427735.1:c.484A>G, XM_047427725.1:c.580A>G, XM_047427744.1:c.484A>G, XM_047427741.1:c.580A>G, XM_047427743.1:c.580A>G, XM_047427722.1:c.580A>G, XM_047427724.1:c.580A>G, XM_047427734.1:c.484A>G, XM_047427738.1:c.484A>G, XM_047427736.1:c.484A>G, XM_047427737.1:c.484A>G, XM_047427727.1:c.580A>G, XM_047427726.1:c.580A>G, XM_047427745.1:c.484A>G, XM_047427739.1:c.484A>G, XM_047427740.1:c.580A>G, XM_047427742.1:c.580A>G, XM_047427746.1:c.484A>G, XM_047427720.1:c.580A>G, XM_047427730.1:c.484A>G, XM_047427733.1:c.580A>G, XM_047427728.1:c.484A>G, XM_047427729.1:c.484A>G, XM_047427731.1:c.580A>G, XM_047427732.1:c.580A>G, NP_116169.2:p.Thr194Ala, XP_016873911.1:p.Thr194Ala, XP_016873919.1:p.Thr194Ala, XP_016873921.1:p.Thr162Ala, XP_016873922.1:p.Thr162Ala, XP_006718989.1:p.Thr194Ala, XP_011541340.1:p.Thr194Ala, XP_024304492.1:p.Thr194Ala, NP_001137506.1:p.Thr194Ala, NP_001137507.1:p.Thr194Ala, NP_001137509.1:p.Thr194Ala, NP_001137510.1:p.Thr194Ala, NP_001137508.1:p.Thr90Ala, XP_005271760.1:p.Thr194Ala, NP_001305684.1:p.Thr194Ala, XP_047283677.1:p.Thr194Ala, XP_047283679.1:p.Thr194Ala, XP_047283691.1:p.Thr162Ala, XP_047283681.1:p.Thr194Ala, XP_047283700.1:p.Thr162Ala, XP_047283697.1:p.Thr194Ala, XP_047283699.1:p.Thr194Ala, XP_047283678.1:p.Thr194Ala, XP_047283680.1:p.Thr194Ala, XP_047283690.1:p.Thr162Ala, XP_047283694.1:p.Thr162Ala, XP_047283692.1:p.Thr162Ala, XP_047283693.1:p.Thr162Ala, XP_047283683.1:p.Thr194Ala, XP_047283682.1:p.Thr194Ala, XP_047283701.1:p.Thr162Ala, XP_047283695.1:p.Thr162Ala, XP_047283696.1:p.Thr194Ala, XP_047283698.1:p.Thr194Ala, XP_047283702.1:p.Thr162Ala, XP_047283676.1:p.Thr194Ala, XP_047283686.1:p.Thr162Ala, XP_047283689.1:p.Thr194Ala, XP_047283684.1:p.Thr162Ala, XP_047283685.1:p.Thr162Ala, XP_047283687.1:p.Thr194Ala, XP_047283688.1:p.Thr194Ala

        4.

        rs1448635908 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:118534524 (GRCh38)
          11:118405239 (GRCh37)
          Canonical SPDI:
          NC_000011.10:118534523:G:A
          Gene:
          TMEM25 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.118534524G>A, NC_000011.9:g.118405239G>A, NW_003871072.2:g.159962G>A, NM_032780.4:c.1045G>A, NM_032780.3:c.1045G>A, XM_017018422.3:c.1045G>A, XM_017018422.2:c.1045G>A, XM_017018422.1:c.1045G>A, XM_017018430.3:c.910G>A, XM_017018430.2:c.910G>A, XM_017018430.1:c.910G>A, XM_017018432.3:c.817G>A, XM_017018432.2:c.817G>A, XM_017018432.1:c.817G>A, XM_017018433.3:c.817G>A, XM_017018433.2:c.817G>A, XM_017018433.1:c.817G>A, XM_024448724.2:c.913G>A, XM_024448724.1:c.913G>A, NM_001144034.2:c.913G>A, NM_001144034.1:c.913G>A, NM_001144035.2:c.913G>A, NM_001144035.1:c.913G>A, NM_001318757.2:c.754G>A, NM_001318757.1:c.754G>A, NM_001144036.2:c.601G>A, NM_001144036.1:c.601G>A, NR_134852.2:n.574G>A, NR_134852.1:n.678G>A, XM_047427721.1:c.1045G>A, XM_047427723.1:c.1042G>A, XM_047427735.1:c.949G>A, XM_047427744.1:c.817G>A, XM_047427722.1:c.1042G>A, XM_047427724.1:c.1042G>A, XM_047427734.1:c.949G>A, XM_047427738.1:c.946G>A, XM_047427736.1:c.949G>A, XM_047427737.1:c.946G>A, XM_047427745.1:c.814G>A, NP_116169.2:p.Val349Met, XP_016873911.1:p.Val349Met, XP_016873919.1:p.Val304Met, XP_016873921.1:p.Val273Met, XP_016873922.1:p.Val273Met, XP_024304492.1:p.Val305Met, NP_001137506.1:p.Val305Met, NP_001137507.1:p.Val305Met, NP_001305686.1:p.Val252Met, NP_001137508.1:p.Val201Met, XP_047283677.1:p.Val349Met, XP_047283679.1:p.Val348Met, XP_047283691.1:p.Val317Met, XP_047283700.1:p.Val273Met, XP_047283678.1:p.Val348Met, XP_047283680.1:p.Val348Met, XP_047283690.1:p.Val317Met, XP_047283694.1:p.Val316Met, XP_047283692.1:p.Val317Met, XP_047283693.1:p.Val316Met, XP_047283701.1:p.Val272Met

          5.

          rs1448349577 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:118533203 (GRCh38)
            11:118403918 (GRCh37)
            Canonical SPDI:
            NC_000011.10:118533202:C:T
            Gene:
            TMEM25 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            NC_000011.10:g.118533203C>T, NC_000011.9:g.118403918C>T, NW_003871072.2:g.158641C>T, NM_032780.4:c.669C>T, NM_032780.3:c.669C>T, XM_017018422.3:c.669C>T, XM_017018422.2:c.669C>T, XM_017018422.1:c.669C>T, XM_017018430.3:c.669C>T, XM_017018430.2:c.669C>T, XM_017018430.1:c.669C>T, XM_017018432.3:c.573C>T, XM_017018432.2:c.573C>T, XM_017018432.1:c.573C>T, XM_017018433.3:c.573C>T, XM_017018433.2:c.573C>T, XM_017018433.1:c.573C>T, XM_006718926.3:c.669C>T, XM_006718926.2:c.669C>T, XM_006718926.1:c.669C>T, XM_011543038.3:c.669C>T, XM_011543038.2:c.669C>T, XM_011543038.1:c.669C>T, XM_024448724.2:c.669C>T, XM_024448724.1:c.669C>T, NM_001144034.2:c.669C>T, NM_001144034.1:c.669C>T, NM_001144035.2:c.669C>T, NM_001144035.1:c.669C>T, NM_001144037.2:c.669C>T, NM_001144037.1:c.669C>T, NM_001144038.2:c.669C>T, NM_001144038.1:c.669C>T, NM_001144036.2:c.357C>T, NM_001144036.1:c.357C>T, NR_134852.2:n.330C>T, NR_134852.1:n.434C>T, XM_005271703.2:c.669C>T, XM_005271703.1:c.669C>T, NM_001318755.2:c.669C>T, NM_001318755.1:c.669C>T, XM_047427721.1:c.669C>T, XM_047427723.1:c.669C>T, XM_047427735.1:c.573C>T, XM_047427725.1:c.669C>T, XM_047427744.1:c.573C>T, XM_047427741.1:c.669C>T, XM_047427743.1:c.669C>T, XM_047427722.1:c.669C>T, XM_047427724.1:c.669C>T, XM_047427734.1:c.573C>T, XM_047427738.1:c.573C>T, XM_047427736.1:c.573C>T, XM_047427737.1:c.573C>T, XM_047427727.1:c.669C>T, XM_047427726.1:c.669C>T, XM_047427745.1:c.573C>T, XM_047427739.1:c.573C>T, XM_047427740.1:c.669C>T, XM_047427742.1:c.669C>T, XM_047427746.1:c.573C>T, XM_047427720.1:c.669C>T, XM_047427730.1:c.573C>T, XM_047427733.1:c.669C>T, XM_047427728.1:c.573C>T, XM_047427729.1:c.573C>T, XM_047427731.1:c.669C>T, XM_047427732.1:c.669C>T

            6.

            rs1448119416 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              11:118533083 (GRCh38)
              11:118403798 (GRCh37)
              Canonical SPDI:
              NC_000011.10:118533082:T:A
              Gene:
              TMEM25 (Varview), TTC36-AS1 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_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_000011.10:g.118533083T>A, NC_000011.9:g.118403798T>A, NW_003871072.2:g.158521T>A, NM_032780.4:c.549T>A, NM_032780.3:c.549T>A, XM_017018422.3:c.549T>A, XM_017018422.2:c.549T>A, XM_017018422.1:c.549T>A, XM_017018430.3:c.549T>A, XM_017018430.2:c.549T>A, XM_017018430.1:c.549T>A, XM_017018432.3:c.453T>A, XM_017018432.2:c.453T>A, XM_017018432.1:c.453T>A, XM_017018433.3:c.453T>A, XM_017018433.2:c.453T>A, XM_017018433.1:c.453T>A, XM_006718926.3:c.549T>A, XM_006718926.2:c.549T>A, XM_006718926.1:c.549T>A, XM_011543038.3:c.549T>A, XM_011543038.2:c.549T>A, XM_011543038.1:c.549T>A, XM_024448724.2:c.549T>A, XM_024448724.1:c.549T>A, NM_001144034.2:c.549T>A, NM_001144034.1:c.549T>A, NM_001144035.2:c.549T>A, NM_001144035.1:c.549T>A, NM_001144037.2:c.549T>A, NM_001144037.1:c.549T>A, NM_001144038.2:c.549T>A, NM_001144038.1:c.549T>A, NM_001144036.2:c.237T>A, NM_001144036.1:c.237T>A, NR_134852.2:n.210T>A, NR_134852.1:n.314T>A, XM_005271703.2:c.549T>A, XM_005271703.1:c.549T>A, NM_001318755.2:c.549T>A, NM_001318755.1:c.549T>A, XM_047427721.1:c.549T>A, XM_047427723.1:c.549T>A, XM_047427735.1:c.453T>A, XM_047427725.1:c.549T>A, XM_047427744.1:c.453T>A, XM_047427741.1:c.549T>A, XM_047427743.1:c.549T>A, XM_047427722.1:c.549T>A, XM_047427724.1:c.549T>A, XM_047427734.1:c.453T>A, XM_047427738.1:c.453T>A, XM_047427736.1:c.453T>A, XM_047427737.1:c.453T>A, XM_047427727.1:c.549T>A, XM_047427726.1:c.549T>A, XM_047427745.1:c.453T>A, XM_047427739.1:c.453T>A, XM_047427740.1:c.549T>A, XM_047427742.1:c.549T>A, XM_047427746.1:c.453T>A, XM_047427720.1:c.549T>A, XM_047427730.1:c.453T>A, XM_047427733.1:c.549T>A, XM_047427728.1:c.453T>A, XM_047427729.1:c.453T>A, XM_047427731.1:c.549T>A, XM_047427732.1:c.549T>A, NP_116169.2:p.Asp183Glu, XP_016873911.1:p.Asp183Glu, XP_016873919.1:p.Asp183Glu, XP_016873921.1:p.Asp151Glu, XP_016873922.1:p.Asp151Glu, XP_006718989.1:p.Asp183Glu, XP_011541340.1:p.Asp183Glu, XP_024304492.1:p.Asp183Glu, NP_001137506.1:p.Asp183Glu, NP_001137507.1:p.Asp183Glu, NP_001137509.1:p.Asp183Glu, NP_001137510.1:p.Asp183Glu, NP_001137508.1:p.Asp79Glu, XP_005271760.1:p.Asp183Glu, NP_001305684.1:p.Asp183Glu, XP_047283677.1:p.Asp183Glu, XP_047283679.1:p.Asp183Glu, XP_047283691.1:p.Asp151Glu, XP_047283681.1:p.Asp183Glu, XP_047283700.1:p.Asp151Glu, XP_047283697.1:p.Asp183Glu, XP_047283699.1:p.Asp183Glu, XP_047283678.1:p.Asp183Glu, XP_047283680.1:p.Asp183Glu, XP_047283690.1:p.Asp151Glu, XP_047283694.1:p.Asp151Glu, XP_047283692.1:p.Asp151Glu, XP_047283693.1:p.Asp151Glu, XP_047283683.1:p.Asp183Glu, XP_047283682.1:p.Asp183Glu, XP_047283701.1:p.Asp151Glu, XP_047283695.1:p.Asp151Glu, XP_047283696.1:p.Asp183Glu, XP_047283698.1:p.Asp183Glu, XP_047283702.1:p.Asp151Glu, XP_047283676.1:p.Asp183Glu, XP_047283686.1:p.Asp151Glu, XP_047283689.1:p.Asp183Glu, XP_047283684.1:p.Asp151Glu, XP_047283685.1:p.Asp151Glu, XP_047283687.1:p.Asp183Glu, XP_047283688.1:p.Asp183Glu

              7.

              rs1443765466 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:118533165 (GRCh38)
                11:118403880 (GRCh37)
                Canonical SPDI:
                NC_000011.10:118533164:A:G
                Gene:
                TMEM25 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.00008/1 (ALFA)
                G=0.00137/4 (KOREAN)
                HGVS:
                NC_000011.10:g.118533165A>G, NC_000011.9:g.118403880A>G, NW_003871072.2:g.158603A>G, NM_032780.4:c.631A>G, NM_032780.3:c.631A>G, XM_017018422.3:c.631A>G, XM_017018422.2:c.631A>G, XM_017018422.1:c.631A>G, XM_017018430.3:c.631A>G, XM_017018430.2:c.631A>G, XM_017018430.1:c.631A>G, XM_017018432.3:c.535A>G, XM_017018432.2:c.535A>G, XM_017018432.1:c.535A>G, XM_017018433.3:c.535A>G, XM_017018433.2:c.535A>G, XM_017018433.1:c.535A>G, XM_006718926.3:c.631A>G, XM_006718926.2:c.631A>G, XM_006718926.1:c.631A>G, XM_011543038.3:c.631A>G, XM_011543038.2:c.631A>G, XM_011543038.1:c.631A>G, XM_024448724.2:c.631A>G, XM_024448724.1:c.631A>G, NM_001144034.2:c.631A>G, NM_001144034.1:c.631A>G, NM_001144035.2:c.631A>G, NM_001144035.1:c.631A>G, NM_001144037.2:c.631A>G, NM_001144037.1:c.631A>G, NM_001144038.2:c.631A>G, NM_001144038.1:c.631A>G, NM_001144036.2:c.319A>G, NM_001144036.1:c.319A>G, NR_134852.2:n.292A>G, NR_134852.1:n.396A>G, XM_005271703.2:c.631A>G, XM_005271703.1:c.631A>G, NM_001318755.2:c.631A>G, NM_001318755.1:c.631A>G, XM_047427721.1:c.631A>G, XM_047427723.1:c.631A>G, XM_047427735.1:c.535A>G, XM_047427725.1:c.631A>G, XM_047427744.1:c.535A>G, XM_047427741.1:c.631A>G, XM_047427743.1:c.631A>G, XM_047427722.1:c.631A>G, XM_047427724.1:c.631A>G, XM_047427734.1:c.535A>G, XM_047427738.1:c.535A>G, XM_047427736.1:c.535A>G, XM_047427737.1:c.535A>G, XM_047427727.1:c.631A>G, XM_047427726.1:c.631A>G, XM_047427745.1:c.535A>G, XM_047427739.1:c.535A>G, XM_047427740.1:c.631A>G, XM_047427742.1:c.631A>G, XM_047427746.1:c.535A>G, XM_047427720.1:c.631A>G, XM_047427730.1:c.535A>G, XM_047427733.1:c.631A>G, XM_047427728.1:c.535A>G, XM_047427729.1:c.535A>G, XM_047427731.1:c.631A>G, XM_047427732.1:c.631A>G, NP_116169.2:p.Thr211Ala, XP_016873911.1:p.Thr211Ala, XP_016873919.1:p.Thr211Ala, XP_016873921.1:p.Thr179Ala, XP_016873922.1:p.Thr179Ala, XP_006718989.1:p.Thr211Ala, XP_011541340.1:p.Thr211Ala, XP_024304492.1:p.Thr211Ala, NP_001137506.1:p.Thr211Ala, NP_001137507.1:p.Thr211Ala, NP_001137509.1:p.Thr211Ala, NP_001137510.1:p.Thr211Ala, NP_001137508.1:p.Thr107Ala, XP_005271760.1:p.Thr211Ala, NP_001305684.1:p.Thr211Ala, XP_047283677.1:p.Thr211Ala, XP_047283679.1:p.Thr211Ala, XP_047283691.1:p.Thr179Ala, XP_047283681.1:p.Thr211Ala, XP_047283700.1:p.Thr179Ala, XP_047283697.1:p.Thr211Ala, XP_047283699.1:p.Thr211Ala, XP_047283678.1:p.Thr211Ala, XP_047283680.1:p.Thr211Ala, XP_047283690.1:p.Thr179Ala, XP_047283694.1:p.Thr179Ala, XP_047283692.1:p.Thr179Ala, XP_047283693.1:p.Thr179Ala, XP_047283683.1:p.Thr211Ala, XP_047283682.1:p.Thr211Ala, XP_047283701.1:p.Thr179Ala, XP_047283695.1:p.Thr179Ala, XP_047283696.1:p.Thr211Ala, XP_047283698.1:p.Thr211Ala, XP_047283702.1:p.Thr179Ala, XP_047283676.1:p.Thr211Ala, XP_047283686.1:p.Thr179Ala, XP_047283689.1:p.Thr211Ala, XP_047283684.1:p.Thr179Ala, XP_047283685.1:p.Thr179Ala, XP_047283687.1:p.Thr211Ala, XP_047283688.1:p.Thr211Ala

                8.

                rs1427238206 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:118533880 (GRCh38)
                  11:118404595 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:118533879:A:G
                  Gene:
                  TMEM25 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000011.10:g.118533880A>G, NC_000011.9:g.118404595A>G, NW_003871072.2:g.159318A>G, NM_032780.4:c.829A>G, NM_032780.3:c.829A>G, XM_017018422.3:c.829A>G, XM_017018422.2:c.829A>G, XM_017018422.1:c.829A>G, XM_017018430.3:c.697A>G, XM_017018430.2:c.697A>G, XM_017018430.1:c.697A>G, XM_017018432.3:c.601A>G, XM_017018432.2:c.601A>G, XM_017018432.1:c.601A>G, XM_017018433.3:c.601A>G, XM_017018433.2:c.601A>G, XM_017018433.1:c.601A>G, XM_006718926.3:c.829A>G, XM_006718926.2:c.829A>G, XM_006718926.1:c.829A>G, XM_011543038.3:c.697A>G, XM_011543038.2:c.697A>G, XM_011543038.1:c.697A>G, XM_024448724.2:c.697A>G, XM_024448724.1:c.697A>G, NM_001144034.2:c.697A>G, NM_001144034.1:c.697A>G, NM_001144035.2:c.697A>G, NM_001144035.1:c.697A>G, NM_001144037.2:c.829A>G, NM_001144037.1:c.829A>G, NM_001144038.2:c.697A>G, NM_001144038.1:c.697A>G, NM_001318757.2:c.538A>G, NM_001318757.1:c.538A>G, NM_001144036.2:c.385A>G, NM_001144036.1:c.385A>G, NR_134852.2:n.358A>G, NR_134852.1:n.462A>G, XM_005271703.2:c.829A>G, XM_005271703.1:c.829A>G, NM_001318755.2:c.829A>G, NM_001318755.1:c.829A>G, XM_047427721.1:c.829A>G, XM_047427723.1:c.829A>G, XM_047427735.1:c.733A>G, XM_047427725.1:c.829A>G, XM_047427744.1:c.601A>G, XM_047427741.1:c.697A>G, XM_047427743.1:c.697A>G, XM_047427722.1:c.829A>G, XM_047427724.1:c.829A>G, XM_047427734.1:c.733A>G, XM_047427738.1:c.733A>G, XM_047427736.1:c.733A>G, XM_047427737.1:c.733A>G, XM_047427727.1:c.829A>G, XM_047427726.1:c.829A>G, XM_047427745.1:c.601A>G, XM_047427739.1:c.733A>G, XM_047427740.1:c.697A>G, XM_047427742.1:c.697A>G, XM_047427746.1:c.601A>G, XM_047427720.1:c.829A>G, XM_047427730.1:c.733A>G, XM_047427733.1:c.697A>G, XM_047427728.1:c.733A>G, XM_047427729.1:c.733A>G, XM_047427731.1:c.697A>G, XM_047427732.1:c.697A>G, NP_116169.2:p.Ile277Val, XP_016873911.1:p.Ile277Val, XP_016873919.1:p.Ile233Val, XP_016873921.1:p.Ile201Val, XP_016873922.1:p.Ile201Val, XP_006718989.1:p.Ile277Val, XP_011541340.1:p.Ile233Val, XP_024304492.1:p.Ile233Val, NP_001137506.1:p.Ile233Val, NP_001137507.1:p.Ile233Val, NP_001137509.1:p.Ile277Val, NP_001137510.1:p.Ile233Val, NP_001305686.1:p.Ile180Val, NP_001137508.1:p.Ile129Val, XP_005271760.1:p.Ile277Val, NP_001305684.1:p.Ile277Val, XP_047283677.1:p.Ile277Val, XP_047283679.1:p.Ile277Val, XP_047283691.1:p.Ile245Val, XP_047283681.1:p.Ile277Val, XP_047283700.1:p.Ile201Val, XP_047283697.1:p.Ile233Val, XP_047283699.1:p.Ile233Val, XP_047283678.1:p.Ile277Val, XP_047283680.1:p.Ile277Val, XP_047283690.1:p.Ile245Val, XP_047283694.1:p.Ile245Val, XP_047283692.1:p.Ile245Val, XP_047283693.1:p.Ile245Val, XP_047283683.1:p.Ile277Val, XP_047283682.1:p.Ile277Val, XP_047283701.1:p.Ile201Val, XP_047283695.1:p.Ile245Val, XP_047283696.1:p.Ile233Val, XP_047283698.1:p.Ile233Val, XP_047283702.1:p.Ile201Val, XP_047283676.1:p.Ile277Val, XP_047283686.1:p.Ile245Val, XP_047283689.1:p.Ile233Val, XP_047283684.1:p.Ile245Val, XP_047283685.1:p.Ile245Val, XP_047283687.1:p.Ile233Val, XP_047283688.1:p.Ile233Val

                  9.

                  rs1416197219 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    11:118532978 (GRCh38)
                    11:118403693 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:118532977:G:T
                    Gene:
                    TMEM25 (Varview), TTC36-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000011.10:g.118532978G>T, NC_000011.9:g.118403693G>T, NW_003871072.2:g.158416G>T, NM_032780.4:c.444G>T, NM_032780.3:c.444G>T, XM_017018422.3:c.444G>T, XM_017018422.2:c.444G>T, XM_017018422.1:c.444G>T, XM_017018430.3:c.444G>T, XM_017018430.2:c.444G>T, XM_017018430.1:c.444G>T, XM_017018432.3:c.348G>T, XM_017018432.2:c.348G>T, XM_017018432.1:c.348G>T, XM_017018433.3:c.348G>T, XM_017018433.2:c.348G>T, XM_017018433.1:c.348G>T, XM_006718926.3:c.444G>T, XM_006718926.2:c.444G>T, XM_006718926.1:c.444G>T, XM_011543038.3:c.444G>T, XM_011543038.2:c.444G>T, XM_011543038.1:c.444G>T, XM_024448724.2:c.444G>T, XM_024448724.1:c.444G>T, NM_001144034.2:c.444G>T, NM_001144034.1:c.444G>T, NM_001144035.2:c.444G>T, NM_001144035.1:c.444G>T, NM_001144037.2:c.444G>T, NM_001144037.1:c.444G>T, NM_001144038.2:c.444G>T, NM_001144038.1:c.444G>T, NM_001144036.2:c.132G>T, NM_001144036.1:c.132G>T, NR_134852.2:n.105G>T, NR_134852.1:n.209G>T, XM_005271703.2:c.444G>T, XM_005271703.1:c.444G>T, NM_001318755.2:c.444G>T, NM_001318755.1:c.444G>T, XM_047427721.1:c.444G>T, XM_047427723.1:c.444G>T, XM_047427735.1:c.348G>T, XM_047427725.1:c.444G>T, XM_047427744.1:c.348G>T, XM_047427741.1:c.444G>T, XM_047427743.1:c.444G>T, XM_047427722.1:c.444G>T, XM_047427724.1:c.444G>T, XM_047427734.1:c.348G>T, XM_047427738.1:c.348G>T, XM_047427736.1:c.348G>T, XM_047427737.1:c.348G>T, XM_047427727.1:c.444G>T, XM_047427726.1:c.444G>T, XM_047427745.1:c.348G>T, XM_047427739.1:c.348G>T, XM_047427740.1:c.444G>T, XM_047427742.1:c.444G>T, XM_047427746.1:c.348G>T, XM_047427720.1:c.444G>T, XM_047427730.1:c.348G>T, XM_047427733.1:c.444G>T, XM_047427728.1:c.348G>T, XM_047427729.1:c.348G>T, XM_047427731.1:c.444G>T, XM_047427732.1:c.444G>T

                    10.

                    rs1414633471 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      11:118533087 (GRCh38)
                      11:118403802 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:118533086:C:G
                      Gene:
                      TMEM25 (Varview), TTC36-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,2KB_upstream_variant,intron_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000011.10:g.118533087C>G, NC_000011.9:g.118403802C>G, NW_003871072.2:g.158525C>G, NM_032780.4:c.553C>G, NM_032780.3:c.553C>G, XM_017018422.3:c.553C>G, XM_017018422.2:c.553C>G, XM_017018422.1:c.553C>G, XM_017018430.3:c.553C>G, XM_017018430.2:c.553C>G, XM_017018430.1:c.553C>G, XM_017018432.3:c.457C>G, XM_017018432.2:c.457C>G, XM_017018432.1:c.457C>G, XM_017018433.3:c.457C>G, XM_017018433.2:c.457C>G, XM_017018433.1:c.457C>G, XM_006718926.3:c.553C>G, XM_006718926.2:c.553C>G, XM_006718926.1:c.553C>G, XM_011543038.3:c.553C>G, XM_011543038.2:c.553C>G, XM_011543038.1:c.553C>G, XM_024448724.2:c.553C>G, XM_024448724.1:c.553C>G, NM_001144034.2:c.553C>G, NM_001144034.1:c.553C>G, NM_001144035.2:c.553C>G, NM_001144035.1:c.553C>G, NM_001144037.2:c.553C>G, NM_001144037.1:c.553C>G, NM_001144038.2:c.553C>G, NM_001144038.1:c.553C>G, NM_001144036.2:c.241C>G, NM_001144036.1:c.241C>G, NR_134852.2:n.214C>G, NR_134852.1:n.318C>G, XM_005271703.2:c.553C>G, XM_005271703.1:c.553C>G, NM_001318755.2:c.553C>G, NM_001318755.1:c.553C>G, XM_047427721.1:c.553C>G, XM_047427723.1:c.553C>G, XM_047427735.1:c.457C>G, XM_047427725.1:c.553C>G, XM_047427744.1:c.457C>G, XM_047427741.1:c.553C>G, XM_047427743.1:c.553C>G, XM_047427722.1:c.553C>G, XM_047427724.1:c.553C>G, XM_047427734.1:c.457C>G, XM_047427738.1:c.457C>G, XM_047427736.1:c.457C>G, XM_047427737.1:c.457C>G, XM_047427727.1:c.553C>G, XM_047427726.1:c.553C>G, XM_047427745.1:c.457C>G, XM_047427739.1:c.457C>G, XM_047427740.1:c.553C>G, XM_047427742.1:c.553C>G, XM_047427746.1:c.457C>G, XM_047427720.1:c.553C>G, XM_047427730.1:c.457C>G, XM_047427733.1:c.553C>G, XM_047427728.1:c.457C>G, XM_047427729.1:c.457C>G, XM_047427731.1:c.553C>G, XM_047427732.1:c.553C>G, NP_116169.2:p.Gln185Glu, XP_016873911.1:p.Gln185Glu, XP_016873919.1:p.Gln185Glu, XP_016873921.1:p.Gln153Glu, XP_016873922.1:p.Gln153Glu, XP_006718989.1:p.Gln185Glu, XP_011541340.1:p.Gln185Glu, XP_024304492.1:p.Gln185Glu, NP_001137506.1:p.Gln185Glu, NP_001137507.1:p.Gln185Glu, NP_001137509.1:p.Gln185Glu, NP_001137510.1:p.Gln185Glu, NP_001137508.1:p.Gln81Glu, XP_005271760.1:p.Gln185Glu, NP_001305684.1:p.Gln185Glu, XP_047283677.1:p.Gln185Glu, XP_047283679.1:p.Gln185Glu, XP_047283691.1:p.Gln153Glu, XP_047283681.1:p.Gln185Glu, XP_047283700.1:p.Gln153Glu, XP_047283697.1:p.Gln185Glu, XP_047283699.1:p.Gln185Glu, XP_047283678.1:p.Gln185Glu, XP_047283680.1:p.Gln185Glu, XP_047283690.1:p.Gln153Glu, XP_047283694.1:p.Gln153Glu, XP_047283692.1:p.Gln153Glu, XP_047283693.1:p.Gln153Glu, XP_047283683.1:p.Gln185Glu, XP_047283682.1:p.Gln185Glu, XP_047283701.1:p.Gln153Glu, XP_047283695.1:p.Gln153Glu, XP_047283696.1:p.Gln185Glu, XP_047283698.1:p.Gln185Glu, XP_047283702.1:p.Gln153Glu, XP_047283676.1:p.Gln185Glu, XP_047283686.1:p.Gln153Glu, XP_047283689.1:p.Gln185Glu, XP_047283684.1:p.Gln153Glu, XP_047283685.1:p.Gln153Glu, XP_047283687.1:p.Gln185Glu, XP_047283688.1:p.Gln185Glu

                      11.

                      rs1407265701 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:118534105 (GRCh38)
                        11:118404820 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:118534104:A:G
                        Gene:
                        TMEM25 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_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_000011.10:g.118534105A>G, NC_000011.9:g.118404820A>G, NW_003871072.2:g.159543A>G, NM_032780.4:c.913A>G, NM_032780.3:c.913A>G, XM_017018422.3:c.913A>G, XM_017018422.2:c.913A>G, XM_017018422.1:c.913A>G, XM_017018430.3:c.781A>G, XM_017018430.2:c.781A>G, XM_017018430.1:c.781A>G, XM_017018432.3:c.685A>G, XM_017018432.2:c.685A>G, XM_017018432.1:c.685A>G, XM_017018433.3:c.685A>G, XM_017018433.2:c.685A>G, XM_017018433.1:c.685A>G, XM_006718926.3:c.913A>G, XM_006718926.2:c.913A>G, XM_006718926.1:c.913A>G, XM_011543038.3:c.781A>G, XM_011543038.2:c.781A>G, XM_011543038.1:c.781A>G, XM_024448724.2:c.781A>G, XM_024448724.1:c.781A>G, NM_001144034.2:c.781A>G, NM_001144034.1:c.781A>G, NM_001144035.2:c.781A>G, NM_001144035.1:c.781A>G, NM_001144037.2:c.913A>G, NM_001144037.1:c.913A>G, NM_001144038.2:c.781A>G, NM_001144038.1:c.781A>G, NM_001318757.2:c.622A>G, NM_001318757.1:c.622A>G, NM_001144036.2:c.469A>G, NM_001144036.1:c.469A>G, NR_134852.2:n.442A>G, NR_134852.1:n.546A>G, XM_005271703.2:c.913A>G, XM_005271703.1:c.913A>G, NM_001318755.2:c.913A>G, NM_001318755.1:c.913A>G, XM_047427721.1:c.913A>G, XM_047427723.1:c.913A>G, XM_047427735.1:c.817A>G, XM_047427725.1:c.913A>G, XM_047427744.1:c.685A>G, XM_047427741.1:c.781A>G, XM_047427743.1:c.781A>G, XM_047427722.1:c.913A>G, XM_047427724.1:c.913A>G, XM_047427734.1:c.817A>G, XM_047427738.1:c.817A>G, XM_047427736.1:c.817A>G, XM_047427737.1:c.817A>G, XM_047427727.1:c.913A>G, XM_047427726.1:c.913A>G, XM_047427745.1:c.685A>G, XM_047427739.1:c.817A>G, XM_047427740.1:c.781A>G, XM_047427742.1:c.781A>G, XM_047427746.1:c.685A>G, XM_047427720.1:c.913A>G, XM_047427730.1:c.817A>G, XM_047427733.1:c.781A>G, XM_047427728.1:c.817A>G, XM_047427729.1:c.817A>G, XM_047427731.1:c.781A>G, XM_047427732.1:c.781A>G, NP_116169.2:p.Asn305Asp, XP_016873911.1:p.Asn305Asp, XP_016873919.1:p.Asn261Asp, XP_016873921.1:p.Asn229Asp, XP_016873922.1:p.Asn229Asp, XP_006718989.1:p.Asn305Asp, XP_011541340.1:p.Asn261Asp, XP_024304492.1:p.Asn261Asp, NP_001137506.1:p.Asn261Asp, NP_001137507.1:p.Asn261Asp, NP_001137509.1:p.Asn305Asp, NP_001137510.1:p.Asn261Asp, NP_001305686.1:p.Asn208Asp, NP_001137508.1:p.Asn157Asp, XP_005271760.1:p.Asn305Asp, NP_001305684.1:p.Asn305Asp, XP_047283677.1:p.Asn305Asp, XP_047283679.1:p.Asn305Asp, XP_047283691.1:p.Asn273Asp, XP_047283681.1:p.Asn305Asp, XP_047283700.1:p.Asn229Asp, XP_047283697.1:p.Asn261Asp, XP_047283699.1:p.Asn261Asp, XP_047283678.1:p.Asn305Asp, XP_047283680.1:p.Asn305Asp, XP_047283690.1:p.Asn273Asp, XP_047283694.1:p.Asn273Asp, XP_047283692.1:p.Asn273Asp, XP_047283693.1:p.Asn273Asp, XP_047283683.1:p.Asn305Asp, XP_047283682.1:p.Asn305Asp, XP_047283701.1:p.Asn229Asp, XP_047283695.1:p.Asn273Asp, XP_047283696.1:p.Asn261Asp, XP_047283698.1:p.Asn261Asp, XP_047283702.1:p.Asn229Asp, XP_047283676.1:p.Asn305Asp, XP_047283686.1:p.Asn273Asp, XP_047283689.1:p.Asn261Asp, XP_047283684.1:p.Asn273Asp, XP_047283685.1:p.Asn273Asp, XP_047283687.1:p.Asn261Asp, XP_047283688.1:p.Asn261Asp

                        12.

                        rs1404806294 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:118533875 (GRCh38)
                          11:118404590 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:118533874:C:T
                          Gene:
                          TMEM25 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          NC_000011.10:g.118533875C>T, NC_000011.9:g.118404590C>T, NW_003871072.2:g.159313C>T, NM_032780.4:c.824C>T, NM_032780.3:c.824C>T, XM_017018422.3:c.824C>T, XM_017018422.2:c.824C>T, XM_017018422.1:c.824C>T, XM_017018430.3:c.692C>T, XM_017018430.2:c.692C>T, XM_017018430.1:c.692C>T, XM_017018432.3:c.596C>T, XM_017018432.2:c.596C>T, XM_017018432.1:c.596C>T, XM_017018433.3:c.596C>T, XM_017018433.2:c.596C>T, XM_017018433.1:c.596C>T, XM_006718926.3:c.824C>T, XM_006718926.2:c.824C>T, XM_006718926.1:c.824C>T, XM_011543038.3:c.692C>T, XM_011543038.2:c.692C>T, XM_011543038.1:c.692C>T, XM_024448724.2:c.692C>T, XM_024448724.1:c.692C>T, NM_001144034.2:c.692C>T, NM_001144034.1:c.692C>T, NM_001144035.2:c.692C>T, NM_001144035.1:c.692C>T, NM_001144037.2:c.824C>T, NM_001144037.1:c.824C>T, NM_001144038.2:c.692C>T, NM_001144038.1:c.692C>T, NM_001318757.2:c.533C>T, NM_001318757.1:c.533C>T, NM_001144036.2:c.380C>T, NM_001144036.1:c.380C>T, NR_134852.2:n.353C>T, NR_134852.1:n.457C>T, XM_005271703.2:c.824C>T, XM_005271703.1:c.824C>T, NM_001318755.2:c.824C>T, NM_001318755.1:c.824C>T, XM_047427721.1:c.824C>T, XM_047427723.1:c.824C>T, XM_047427735.1:c.728C>T, XM_047427725.1:c.824C>T, XM_047427744.1:c.596C>T, XM_047427741.1:c.692C>T, XM_047427743.1:c.692C>T, XM_047427722.1:c.824C>T, XM_047427724.1:c.824C>T, XM_047427734.1:c.728C>T, XM_047427738.1:c.728C>T, XM_047427736.1:c.728C>T, XM_047427737.1:c.728C>T, XM_047427727.1:c.824C>T, XM_047427726.1:c.824C>T, XM_047427745.1:c.596C>T, XM_047427739.1:c.728C>T, XM_047427740.1:c.692C>T, XM_047427742.1:c.692C>T, XM_047427746.1:c.596C>T, XM_047427720.1:c.824C>T, XM_047427730.1:c.728C>T, XM_047427733.1:c.692C>T, XM_047427728.1:c.728C>T, XM_047427729.1:c.728C>T, XM_047427731.1:c.692C>T, XM_047427732.1:c.692C>T, NP_116169.2:p.Ser275Phe, XP_016873911.1:p.Ser275Phe, XP_016873919.1:p.Ser231Phe, XP_016873921.1:p.Ser199Phe, XP_016873922.1:p.Ser199Phe, XP_006718989.1:p.Ser275Phe, XP_011541340.1:p.Ser231Phe, XP_024304492.1:p.Ser231Phe, NP_001137506.1:p.Ser231Phe, NP_001137507.1:p.Ser231Phe, NP_001137509.1:p.Ser275Phe, NP_001137510.1:p.Ser231Phe, NP_001305686.1:p.Ser178Phe, NP_001137508.1:p.Ser127Phe, XP_005271760.1:p.Ser275Phe, NP_001305684.1:p.Ser275Phe, XP_047283677.1:p.Ser275Phe, XP_047283679.1:p.Ser275Phe, XP_047283691.1:p.Ser243Phe, XP_047283681.1:p.Ser275Phe, XP_047283700.1:p.Ser199Phe, XP_047283697.1:p.Ser231Phe, XP_047283699.1:p.Ser231Phe, XP_047283678.1:p.Ser275Phe, XP_047283680.1:p.Ser275Phe, XP_047283690.1:p.Ser243Phe, XP_047283694.1:p.Ser243Phe, XP_047283692.1:p.Ser243Phe, XP_047283693.1:p.Ser243Phe, XP_047283683.1:p.Ser275Phe, XP_047283682.1:p.Ser275Phe, XP_047283701.1:p.Ser199Phe, XP_047283695.1:p.Ser243Phe, XP_047283696.1:p.Ser231Phe, XP_047283698.1:p.Ser231Phe, XP_047283702.1:p.Ser199Phe, XP_047283676.1:p.Ser275Phe, XP_047283686.1:p.Ser243Phe, XP_047283689.1:p.Ser231Phe, XP_047283684.1:p.Ser243Phe, XP_047283685.1:p.Ser243Phe, XP_047283687.1:p.Ser231Phe, XP_047283688.1:p.Ser231Phe

                          13.

                          rs1400189305 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:118533864 (GRCh38)
                            11:118404579 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:118533863:C:T
                            Gene:
                            TMEM25 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000056/2 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.00003/8 (TOPMED)
                            HGVS:
                            NC_000011.10:g.118533864C>T, NC_000011.9:g.118404579C>T, NW_003871072.2:g.159302C>T, NM_032780.4:c.813C>T, NM_032780.3:c.813C>T, XM_017018422.3:c.813C>T, XM_017018422.2:c.813C>T, XM_017018422.1:c.813C>T, XM_017018430.3:c.681C>T, XM_017018430.2:c.681C>T, XM_017018430.1:c.681C>T, XM_017018432.3:c.585C>T, XM_017018432.2:c.585C>T, XM_017018432.1:c.585C>T, XM_017018433.3:c.585C>T, XM_017018433.2:c.585C>T, XM_017018433.1:c.585C>T, XM_006718926.3:c.813C>T, XM_006718926.2:c.813C>T, XM_006718926.1:c.813C>T, XM_011543038.3:c.681C>T, XM_011543038.2:c.681C>T, XM_011543038.1:c.681C>T, XM_024448724.2:c.681C>T, XM_024448724.1:c.681C>T, NM_001144034.2:c.681C>T, NM_001144034.1:c.681C>T, NM_001144035.2:c.681C>T, NM_001144035.1:c.681C>T, NM_001144037.2:c.813C>T, NM_001144037.1:c.813C>T, NM_001144038.2:c.681C>T, NM_001144038.1:c.681C>T, NM_001318757.2:c.522C>T, NM_001318757.1:c.522C>T, NM_001144036.2:c.369C>T, NM_001144036.1:c.369C>T, NR_134852.2:n.342C>T, NR_134852.1:n.446C>T, XM_005271703.2:c.813C>T, XM_005271703.1:c.813C>T, NM_001318755.2:c.813C>T, NM_001318755.1:c.813C>T, XM_047427721.1:c.813C>T, XM_047427723.1:c.813C>T, XM_047427735.1:c.717C>T, XM_047427725.1:c.813C>T, XM_047427744.1:c.585C>T, XM_047427741.1:c.681C>T, XM_047427743.1:c.681C>T, XM_047427722.1:c.813C>T, XM_047427724.1:c.813C>T, XM_047427734.1:c.717C>T, XM_047427738.1:c.717C>T, XM_047427736.1:c.717C>T, XM_047427737.1:c.717C>T, XM_047427727.1:c.813C>T, XM_047427726.1:c.813C>T, XM_047427745.1:c.585C>T, XM_047427739.1:c.717C>T, XM_047427740.1:c.681C>T, XM_047427742.1:c.681C>T, XM_047427746.1:c.585C>T, XM_047427720.1:c.813C>T, XM_047427730.1:c.717C>T, XM_047427733.1:c.681C>T, XM_047427728.1:c.717C>T, XM_047427729.1:c.717C>T, XM_047427731.1:c.681C>T, XM_047427732.1:c.681C>T

                            14.

                            rs1391796534 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:118534106 (GRCh38)
                              11:118404821 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:118534105:A:G
                              Gene:
                              TMEM25 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_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_000011.10:g.118534106A>G, NC_000011.9:g.118404821A>G, NW_003871072.2:g.159544A>G, NM_032780.4:c.914A>G, NM_032780.3:c.914A>G, XM_017018422.3:c.914A>G, XM_017018422.2:c.914A>G, XM_017018422.1:c.914A>G, XM_017018430.3:c.782A>G, XM_017018430.2:c.782A>G, XM_017018430.1:c.782A>G, XM_017018432.3:c.686A>G, XM_017018432.2:c.686A>G, XM_017018432.1:c.686A>G, XM_017018433.3:c.686A>G, XM_017018433.2:c.686A>G, XM_017018433.1:c.686A>G, XM_006718926.3:c.914A>G, XM_006718926.2:c.914A>G, XM_006718926.1:c.914A>G, XM_011543038.3:c.782A>G, XM_011543038.2:c.782A>G, XM_011543038.1:c.782A>G, XM_024448724.2:c.782A>G, XM_024448724.1:c.782A>G, NM_001144034.2:c.782A>G, NM_001144034.1:c.782A>G, NM_001144035.2:c.782A>G, NM_001144035.1:c.782A>G, NM_001144037.2:c.914A>G, NM_001144037.1:c.914A>G, NM_001144038.2:c.782A>G, NM_001144038.1:c.782A>G, NM_001318757.2:c.623A>G, NM_001318757.1:c.623A>G, NM_001144036.2:c.470A>G, NM_001144036.1:c.470A>G, NR_134852.2:n.443A>G, NR_134852.1:n.547A>G, XM_005271703.2:c.914A>G, XM_005271703.1:c.914A>G, NM_001318755.2:c.914A>G, NM_001318755.1:c.914A>G, XM_047427721.1:c.914A>G, XM_047427723.1:c.914A>G, XM_047427735.1:c.818A>G, XM_047427725.1:c.914A>G, XM_047427744.1:c.686A>G, XM_047427741.1:c.782A>G, XM_047427743.1:c.782A>G, XM_047427722.1:c.914A>G, XM_047427724.1:c.914A>G, XM_047427734.1:c.818A>G, XM_047427738.1:c.818A>G, XM_047427736.1:c.818A>G, XM_047427737.1:c.818A>G, XM_047427727.1:c.914A>G, XM_047427726.1:c.914A>G, XM_047427745.1:c.686A>G, XM_047427739.1:c.818A>G, XM_047427740.1:c.782A>G, XM_047427742.1:c.782A>G, XM_047427746.1:c.686A>G, XM_047427720.1:c.914A>G, XM_047427730.1:c.818A>G, XM_047427733.1:c.782A>G, XM_047427728.1:c.818A>G, XM_047427729.1:c.818A>G, XM_047427731.1:c.782A>G, XM_047427732.1:c.782A>G, NP_116169.2:p.Asn305Ser, XP_016873911.1:p.Asn305Ser, XP_016873919.1:p.Asn261Ser, XP_016873921.1:p.Asn229Ser, XP_016873922.1:p.Asn229Ser, XP_006718989.1:p.Asn305Ser, XP_011541340.1:p.Asn261Ser, XP_024304492.1:p.Asn261Ser, NP_001137506.1:p.Asn261Ser, NP_001137507.1:p.Asn261Ser, NP_001137509.1:p.Asn305Ser, NP_001137510.1:p.Asn261Ser, NP_001305686.1:p.Asn208Ser, NP_001137508.1:p.Asn157Ser, XP_005271760.1:p.Asn305Ser, NP_001305684.1:p.Asn305Ser, XP_047283677.1:p.Asn305Ser, XP_047283679.1:p.Asn305Ser, XP_047283691.1:p.Asn273Ser, XP_047283681.1:p.Asn305Ser, XP_047283700.1:p.Asn229Ser, XP_047283697.1:p.Asn261Ser, XP_047283699.1:p.Asn261Ser, XP_047283678.1:p.Asn305Ser, XP_047283680.1:p.Asn305Ser, XP_047283690.1:p.Asn273Ser, XP_047283694.1:p.Asn273Ser, XP_047283692.1:p.Asn273Ser, XP_047283693.1:p.Asn273Ser, XP_047283683.1:p.Asn305Ser, XP_047283682.1:p.Asn305Ser, XP_047283701.1:p.Asn229Ser, XP_047283695.1:p.Asn273Ser, XP_047283696.1:p.Asn261Ser, XP_047283698.1:p.Asn261Ser, XP_047283702.1:p.Asn229Ser, XP_047283676.1:p.Asn305Ser, XP_047283686.1:p.Asn273Ser, XP_047283689.1:p.Asn261Ser, XP_047283684.1:p.Asn273Ser, XP_047283685.1:p.Asn273Ser, XP_047283687.1:p.Asn261Ser, XP_047283688.1:p.Asn261Ser

                              15.

                              rs1359547209 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:118534522 (GRCh38)
                                11:118405237 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:118534521:C:T
                                Gene:
                                TMEM25 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000011.10:g.118534522C>T, NC_000011.9:g.118405237C>T, NW_003871072.2:g.159960C>T, NM_032780.4:c.1043C>T, NM_032780.3:c.1043C>T, XM_017018422.3:c.1043C>T, XM_017018422.2:c.1043C>T, XM_017018422.1:c.1043C>T, XM_017018430.3:c.908C>T, XM_017018430.2:c.908C>T, XM_017018430.1:c.908C>T, XM_017018432.3:c.815C>T, XM_017018432.2:c.815C>T, XM_017018432.1:c.815C>T, XM_017018433.3:c.815C>T, XM_017018433.2:c.815C>T, XM_017018433.1:c.815C>T, XM_024448724.2:c.911C>T, XM_024448724.1:c.911C>T, NM_001144034.2:c.911C>T, NM_001144034.1:c.911C>T, NM_001144035.2:c.911C>T, NM_001144035.1:c.911C>T, NM_001318757.2:c.752C>T, NM_001318757.1:c.752C>T, NM_001144036.2:c.599C>T, NM_001144036.1:c.599C>T, NR_134852.2:n.572C>T, NR_134852.1:n.676C>T, XM_047427721.1:c.1043C>T, XM_047427723.1:c.1040C>T, XM_047427735.1:c.947C>T, XM_047427744.1:c.815C>T, XM_047427722.1:c.1040C>T, XM_047427724.1:c.1040C>T, XM_047427734.1:c.947C>T, XM_047427738.1:c.944C>T, XM_047427736.1:c.947C>T, XM_047427737.1:c.944C>T, XM_047427745.1:c.812C>T, NP_116169.2:p.Pro348Leu, XP_016873911.1:p.Pro348Leu, XP_016873919.1:p.Pro303Leu, XP_016873921.1:p.Pro272Leu, XP_016873922.1:p.Pro272Leu, XP_024304492.1:p.Pro304Leu, NP_001137506.1:p.Pro304Leu, NP_001137507.1:p.Pro304Leu, NP_001305686.1:p.Pro251Leu, NP_001137508.1:p.Pro200Leu, XP_047283677.1:p.Pro348Leu, XP_047283679.1:p.Pro347Leu, XP_047283691.1:p.Pro316Leu, XP_047283700.1:p.Pro272Leu, XP_047283678.1:p.Pro347Leu, XP_047283680.1:p.Pro347Leu, XP_047283690.1:p.Pro316Leu, XP_047283694.1:p.Pro315Leu, XP_047283692.1:p.Pro316Leu, XP_047283693.1:p.Pro315Leu, XP_047283701.1:p.Pro271Leu

                                16.

                                rs1345550883 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  11:118531824 (GRCh38)
                                  11:118402539 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:118531823:C:G,NC_000011.10:118531823:C:T
                                  Gene:
                                  TMEM25 (Varview), TTC36-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000011.10:g.118531824C>G, NC_000011.10:g.118531824C>T, NC_000011.9:g.118402539C>G, NC_000011.9:g.118402539C>T, NW_003871072.2:g.157262C>G, NW_003871072.2:g.157262C>T, NM_032780.4:c.23C>G, NM_032780.4:c.23C>T, NM_032780.3:c.23C>G, NM_032780.3:c.23C>T, XM_017018422.3:c.23C>G, XM_017018422.3:c.23C>T, XM_017018422.2:c.23C>G, XM_017018422.2:c.23C>T, XM_017018422.1:c.23C>G, XM_017018422.1:c.23C>T, XM_017018430.3:c.23C>G, XM_017018430.3:c.23C>T, XM_017018430.2:c.23C>G, XM_017018430.2:c.23C>T, XM_017018430.1:c.23C>G, XM_017018430.1:c.23C>T, XM_017018432.3:c.23C>G, XM_017018432.3:c.23C>T, XM_017018432.2:c.23C>G, XM_017018432.2:c.23C>T, XM_017018432.1:c.23C>G, XM_017018432.1:c.23C>T, XM_017018433.3:c.23C>G, XM_017018433.3:c.23C>T, XM_017018433.2:c.23C>G, XM_017018433.2:c.23C>T, XM_017018433.1:c.23C>G, XM_017018433.1:c.23C>T, XM_006718926.3:c.23C>G, XM_006718926.3:c.23C>T, XM_006718926.2:c.23C>G, XM_006718926.2:c.23C>T, XM_006718926.1:c.23C>G, XM_006718926.1:c.23C>T, XM_011543038.3:c.23C>G, XM_011543038.3:c.23C>T, XM_011543038.2:c.23C>G, XM_011543038.2:c.23C>T, XM_011543038.1:c.23C>G, XM_011543038.1:c.23C>T, XM_024448724.2:c.23C>G, XM_024448724.2:c.23C>T, XM_024448724.1:c.23C>G, XM_024448724.1:c.23C>T, NM_001144034.2:c.23C>G, NM_001144034.2:c.23C>T, NM_001144034.1:c.23C>G, NM_001144034.1:c.23C>T, NM_001144035.2:c.23C>G, NM_001144035.2:c.23C>T, NM_001144035.1:c.23C>G, NM_001144035.1:c.23C>T, NM_001144037.2:c.23C>G, NM_001144037.2:c.23C>T, NM_001144037.1:c.23C>G, NM_001144037.1:c.23C>T, NM_001144038.2:c.23C>G, NM_001144038.2:c.23C>T, NM_001144038.1:c.23C>G, NM_001144038.1:c.23C>T, NM_001318757.2:c.23C>G, NM_001318757.2:c.23C>T, NM_001318757.1:c.23C>G, NM_001318757.1:c.23C>T, NM_001144036.2:c.23C>G, NM_001144036.2:c.23C>T, NM_001144036.1:c.23C>G, NM_001144036.1:c.23C>T, XM_005271703.2:c.23C>G, XM_005271703.2:c.23C>T, XM_005271703.1:c.23C>G, XM_005271703.1:c.23C>T, NM_001318755.2:c.23C>G, NM_001318755.2:c.23C>T, NM_001318755.1:c.23C>G, NM_001318755.1:c.23C>T, XM_047427721.1:c.23C>G, XM_047427721.1:c.23C>T, XM_047427723.1:c.23C>G, XM_047427723.1:c.23C>T, XM_047427735.1:c.23C>G, XM_047427735.1:c.23C>T, XM_047427725.1:c.23C>G, XM_047427725.1:c.23C>T, XM_047427744.1:c.23C>G, XM_047427744.1:c.23C>T, XM_047427741.1:c.23C>G, XM_047427741.1:c.23C>T, XM_047427743.1:c.23C>G, XM_047427743.1:c.23C>T, XM_047427722.1:c.23C>G, XM_047427722.1:c.23C>T, XM_047427724.1:c.23C>G, XM_047427724.1:c.23C>T, XM_047427734.1:c.23C>G, XM_047427734.1:c.23C>T, XM_047427738.1:c.23C>G, XM_047427738.1:c.23C>T, XM_047427736.1:c.23C>G, XM_047427736.1:c.23C>T, XM_047427737.1:c.23C>G, XM_047427737.1:c.23C>T, XM_047427727.1:c.23C>G, XM_047427727.1:c.23C>T, XM_047427726.1:c.23C>G, XM_047427726.1:c.23C>T, XM_047427745.1:c.23C>G, XM_047427745.1:c.23C>T, XM_047427739.1:c.23C>G, XM_047427739.1:c.23C>T, XM_047427740.1:c.23C>G, XM_047427740.1:c.23C>T, XM_047427742.1:c.23C>G, XM_047427742.1:c.23C>T, XM_047427746.1:c.23C>G, XM_047427746.1:c.23C>T, XM_047427720.1:c.23C>G, XM_047427720.1:c.23C>T, XM_047427730.1:c.23C>G, XM_047427730.1:c.23C>T, XM_047427733.1:c.23C>G, XM_047427733.1:c.23C>T, XM_047427728.1:c.23C>G, XM_047427728.1:c.23C>T, XM_047427729.1:c.23C>G, XM_047427729.1:c.23C>T, XM_047427731.1:c.23C>G, XM_047427731.1:c.23C>T, XM_047427732.1:c.23C>G, XM_047427732.1:c.23C>T, NP_116169.2:p.Ala8Gly, NP_116169.2:p.Ala8Val, XP_016873911.1:p.Ala8Gly, XP_016873911.1:p.Ala8Val, XP_016873919.1:p.Ala8Gly, XP_016873919.1:p.Ala8Val, XP_016873921.1:p.Ala8Gly, XP_016873921.1:p.Ala8Val, XP_016873922.1:p.Ala8Gly, XP_016873922.1:p.Ala8Val, XP_006718989.1:p.Ala8Gly, XP_006718989.1:p.Ala8Val, XP_011541340.1:p.Ala8Gly, XP_011541340.1:p.Ala8Val, XP_024304492.1:p.Ala8Gly, XP_024304492.1:p.Ala8Val, NP_001137506.1:p.Ala8Gly, NP_001137506.1:p.Ala8Val, NP_001137507.1:p.Ala8Gly, NP_001137507.1:p.Ala8Val, NP_001137509.1:p.Ala8Gly, NP_001137509.1:p.Ala8Val, NP_001137510.1:p.Ala8Gly, NP_001137510.1:p.Ala8Val, NP_001305686.1:p.Ala8Gly, NP_001305686.1:p.Ala8Val, NP_001137508.1:p.Ala8Gly, NP_001137508.1:p.Ala8Val, XP_005271760.1:p.Ala8Gly, XP_005271760.1:p.Ala8Val, NP_001305684.1:p.Ala8Gly, NP_001305684.1:p.Ala8Val, XP_047283677.1:p.Ala8Gly, XP_047283677.1:p.Ala8Val, XP_047283679.1:p.Ala8Gly, XP_047283679.1:p.Ala8Val, XP_047283691.1:p.Ala8Gly, XP_047283691.1:p.Ala8Val, XP_047283681.1:p.Ala8Gly, XP_047283681.1:p.Ala8Val, XP_047283700.1:p.Ala8Gly, XP_047283700.1:p.Ala8Val, XP_047283697.1:p.Ala8Gly, XP_047283697.1:p.Ala8Val, XP_047283699.1:p.Ala8Gly, XP_047283699.1:p.Ala8Val, XP_047283678.1:p.Ala8Gly, XP_047283678.1:p.Ala8Val, XP_047283680.1:p.Ala8Gly, XP_047283680.1:p.Ala8Val, XP_047283690.1:p.Ala8Gly, XP_047283690.1:p.Ala8Val, XP_047283694.1:p.Ala8Gly, XP_047283694.1:p.Ala8Val, XP_047283692.1:p.Ala8Gly, XP_047283692.1:p.Ala8Val, XP_047283693.1:p.Ala8Gly, XP_047283693.1:p.Ala8Val, XP_047283683.1:p.Ala8Gly, XP_047283683.1:p.Ala8Val, XP_047283682.1:p.Ala8Gly, XP_047283682.1:p.Ala8Val, XP_047283701.1:p.Ala8Gly, XP_047283701.1:p.Ala8Val, XP_047283695.1:p.Ala8Gly, XP_047283695.1:p.Ala8Val, XP_047283696.1:p.Ala8Gly, XP_047283696.1:p.Ala8Val, XP_047283698.1:p.Ala8Gly, XP_047283698.1:p.Ala8Val, XP_047283702.1:p.Ala8Gly, XP_047283702.1:p.Ala8Val, XP_047283676.1:p.Ala8Gly, XP_047283676.1:p.Ala8Val, XP_047283686.1:p.Ala8Gly, XP_047283686.1:p.Ala8Val, XP_047283689.1:p.Ala8Gly, XP_047283689.1:p.Ala8Val, XP_047283684.1:p.Ala8Gly, XP_047283684.1:p.Ala8Val, XP_047283685.1:p.Ala8Gly, XP_047283685.1:p.Ala8Val, XP_047283687.1:p.Ala8Gly, XP_047283687.1:p.Ala8Val, XP_047283688.1:p.Ala8Gly, XP_047283688.1:p.Ala8Val

                                  17.

                                  rs1339202007 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    11:118532975 (GRCh38)
                                    11:118403690 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:118532974:C:G,NC_000011.10:118532974:C:T
                                    Gene:
                                    TMEM25 (Varview), TTC36-AS1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.118532975C>G, NC_000011.10:g.118532975C>T, NC_000011.9:g.118403690C>G, NC_000011.9:g.118403690C>T, NW_003871072.2:g.158413C>G, NW_003871072.2:g.158413C>T, NM_032780.4:c.441C>G, NM_032780.4:c.441C>T, NM_032780.3:c.441C>G, NM_032780.3:c.441C>T, XM_017018422.3:c.441C>G, XM_017018422.3:c.441C>T, XM_017018422.2:c.441C>G, XM_017018422.2:c.441C>T, XM_017018422.1:c.441C>G, XM_017018422.1:c.441C>T, XM_017018430.3:c.441C>G, XM_017018430.3:c.441C>T, XM_017018430.2:c.441C>G, XM_017018430.2:c.441C>T, XM_017018430.1:c.441C>G, XM_017018430.1:c.441C>T, XM_017018432.3:c.345C>G, XM_017018432.3:c.345C>T, XM_017018432.2:c.345C>G, XM_017018432.2:c.345C>T, XM_017018432.1:c.345C>G, XM_017018432.1:c.345C>T, XM_017018433.3:c.345C>G, XM_017018433.3:c.345C>T, XM_017018433.2:c.345C>G, XM_017018433.2:c.345C>T, XM_017018433.1:c.345C>G, XM_017018433.1:c.345C>T, XM_006718926.3:c.441C>G, XM_006718926.3:c.441C>T, XM_006718926.2:c.441C>G, XM_006718926.2:c.441C>T, XM_006718926.1:c.441C>G, XM_006718926.1:c.441C>T, XM_011543038.3:c.441C>G, XM_011543038.3:c.441C>T, XM_011543038.2:c.441C>G, XM_011543038.2:c.441C>T, XM_011543038.1:c.441C>G, XM_011543038.1:c.441C>T, XM_024448724.2:c.441C>G, XM_024448724.2:c.441C>T, XM_024448724.1:c.441C>G, XM_024448724.1:c.441C>T, NM_001144034.2:c.441C>G, NM_001144034.2:c.441C>T, NM_001144034.1:c.441C>G, NM_001144034.1:c.441C>T, NM_001144035.2:c.441C>G, NM_001144035.2:c.441C>T, NM_001144035.1:c.441C>G, NM_001144035.1:c.441C>T, NM_001144037.2:c.441C>G, NM_001144037.2:c.441C>T, NM_001144037.1:c.441C>G, NM_001144037.1:c.441C>T, NM_001144038.2:c.441C>G, NM_001144038.2:c.441C>T, NM_001144038.1:c.441C>G, NM_001144038.1:c.441C>T, NM_001144036.2:c.129C>G, NM_001144036.2:c.129C>T, NM_001144036.1:c.129C>G, NM_001144036.1:c.129C>T, NR_134852.2:n.102C>G, NR_134852.2:n.102C>T, NR_134852.1:n.206C>G, NR_134852.1:n.206C>T, XM_005271703.2:c.441C>G, XM_005271703.2:c.441C>T, XM_005271703.1:c.441C>G, XM_005271703.1:c.441C>T, NM_001318755.2:c.441C>G, NM_001318755.2:c.441C>T, NM_001318755.1:c.441C>G, NM_001318755.1:c.441C>T, XM_047427721.1:c.441C>G, XM_047427721.1:c.441C>T, XM_047427723.1:c.441C>G, XM_047427723.1:c.441C>T, XM_047427735.1:c.345C>G, XM_047427735.1:c.345C>T, XM_047427725.1:c.441C>G, XM_047427725.1:c.441C>T, XM_047427744.1:c.345C>G, XM_047427744.1:c.345C>T, XM_047427741.1:c.441C>G, XM_047427741.1:c.441C>T, XM_047427743.1:c.441C>G, XM_047427743.1:c.441C>T, XM_047427722.1:c.441C>G, XM_047427722.1:c.441C>T, XM_047427724.1:c.441C>G, XM_047427724.1:c.441C>T, XM_047427734.1:c.345C>G, XM_047427734.1:c.345C>T, XM_047427738.1:c.345C>G, XM_047427738.1:c.345C>T, XM_047427736.1:c.345C>G, XM_047427736.1:c.345C>T, XM_047427737.1:c.345C>G, XM_047427737.1:c.345C>T, XM_047427727.1:c.441C>G, XM_047427727.1:c.441C>T, XM_047427726.1:c.441C>G, XM_047427726.1:c.441C>T, XM_047427745.1:c.345C>G, XM_047427745.1:c.345C>T, XM_047427739.1:c.345C>G, XM_047427739.1:c.345C>T, XM_047427740.1:c.441C>G, XM_047427740.1:c.441C>T, XM_047427742.1:c.441C>G, XM_047427742.1:c.441C>T, XM_047427746.1:c.345C>G, XM_047427746.1:c.345C>T, XM_047427720.1:c.441C>G, XM_047427720.1:c.441C>T, XM_047427730.1:c.345C>G, XM_047427730.1:c.345C>T, XM_047427733.1:c.441C>G, XM_047427733.1:c.441C>T, XM_047427728.1:c.345C>G, XM_047427728.1:c.345C>T, XM_047427729.1:c.345C>G, XM_047427729.1:c.345C>T, XM_047427731.1:c.441C>G, XM_047427731.1:c.441C>T, XM_047427732.1:c.441C>G, XM_047427732.1:c.441C>T

                                    18.

                                    rs1335245083 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:118532986 (GRCh38)
                                      11:118403701 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:118532985:T:C
                                      Gene:
                                      TMEM25 (Varview), TTC36-AS1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_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_000011.10:g.118532986T>C, NC_000011.9:g.118403701T>C, NW_003871072.2:g.158424T>C, NM_032780.4:c.452T>C, NM_032780.3:c.452T>C, XM_017018422.3:c.452T>C, XM_017018422.2:c.452T>C, XM_017018422.1:c.452T>C, XM_017018430.3:c.452T>C, XM_017018430.2:c.452T>C, XM_017018430.1:c.452T>C, XM_017018432.3:c.356T>C, XM_017018432.2:c.356T>C, XM_017018432.1:c.356T>C, XM_017018433.3:c.356T>C, XM_017018433.2:c.356T>C, XM_017018433.1:c.356T>C, XM_006718926.3:c.452T>C, XM_006718926.2:c.452T>C, XM_006718926.1:c.452T>C, XM_011543038.3:c.452T>C, XM_011543038.2:c.452T>C, XM_011543038.1:c.452T>C, XM_024448724.2:c.452T>C, XM_024448724.1:c.452T>C, NM_001144034.2:c.452T>C, NM_001144034.1:c.452T>C, NM_001144035.2:c.452T>C, NM_001144035.1:c.452T>C, NM_001144037.2:c.452T>C, NM_001144037.1:c.452T>C, NM_001144038.2:c.452T>C, NM_001144038.1:c.452T>C, NM_001144036.2:c.140T>C, NM_001144036.1:c.140T>C, NR_134852.2:n.113T>C, NR_134852.1:n.217T>C, XM_005271703.2:c.452T>C, XM_005271703.1:c.452T>C, NM_001318755.2:c.452T>C, NM_001318755.1:c.452T>C, XM_047427721.1:c.452T>C, XM_047427723.1:c.452T>C, XM_047427735.1:c.356T>C, XM_047427725.1:c.452T>C, XM_047427744.1:c.356T>C, XM_047427741.1:c.452T>C, XM_047427743.1:c.452T>C, XM_047427722.1:c.452T>C, XM_047427724.1:c.452T>C, XM_047427734.1:c.356T>C, XM_047427738.1:c.356T>C, XM_047427736.1:c.356T>C, XM_047427737.1:c.356T>C, XM_047427727.1:c.452T>C, XM_047427726.1:c.452T>C, XM_047427745.1:c.356T>C, XM_047427739.1:c.356T>C, XM_047427740.1:c.452T>C, XM_047427742.1:c.452T>C, XM_047427746.1:c.356T>C, XM_047427720.1:c.452T>C, XM_047427730.1:c.356T>C, XM_047427733.1:c.452T>C, XM_047427728.1:c.356T>C, XM_047427729.1:c.356T>C, XM_047427731.1:c.452T>C, XM_047427732.1:c.452T>C, NP_116169.2:p.Leu151Pro, XP_016873911.1:p.Leu151Pro, XP_016873919.1:p.Leu151Pro, XP_016873921.1:p.Leu119Pro, XP_016873922.1:p.Leu119Pro, XP_006718989.1:p.Leu151Pro, XP_011541340.1:p.Leu151Pro, XP_024304492.1:p.Leu151Pro, NP_001137506.1:p.Leu151Pro, NP_001137507.1:p.Leu151Pro, NP_001137509.1:p.Leu151Pro, NP_001137510.1:p.Leu151Pro, NP_001137508.1:p.Leu47Pro, XP_005271760.1:p.Leu151Pro, NP_001305684.1:p.Leu151Pro, XP_047283677.1:p.Leu151Pro, XP_047283679.1:p.Leu151Pro, XP_047283691.1:p.Leu119Pro, XP_047283681.1:p.Leu151Pro, XP_047283700.1:p.Leu119Pro, XP_047283697.1:p.Leu151Pro, XP_047283699.1:p.Leu151Pro, XP_047283678.1:p.Leu151Pro, XP_047283680.1:p.Leu151Pro, XP_047283690.1:p.Leu119Pro, XP_047283694.1:p.Leu119Pro, XP_047283692.1:p.Leu119Pro, XP_047283693.1:p.Leu119Pro, XP_047283683.1:p.Leu151Pro, XP_047283682.1:p.Leu151Pro, XP_047283701.1:p.Leu119Pro, XP_047283695.1:p.Leu119Pro, XP_047283696.1:p.Leu151Pro, XP_047283698.1:p.Leu151Pro, XP_047283702.1:p.Leu119Pro, XP_047283676.1:p.Leu151Pro, XP_047283686.1:p.Leu119Pro, XP_047283689.1:p.Leu151Pro, XP_047283684.1:p.Leu119Pro, XP_047283685.1:p.Leu119Pro, XP_047283687.1:p.Leu151Pro, XP_047283688.1:p.Leu151Pro

                                      19.

                                      rs1335056069 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:118533056 (GRCh38)
                                        11:118403771 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:118533055:C:T
                                        Gene:
                                        TMEM25 (Varview), TTC36-AS1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.118533056C>T, NC_000011.9:g.118403771C>T, NW_003871072.2:g.158494C>T, NM_032780.4:c.522C>T, NM_032780.3:c.522C>T, XM_017018422.3:c.522C>T, XM_017018422.2:c.522C>T, XM_017018422.1:c.522C>T, XM_017018430.3:c.522C>T, XM_017018430.2:c.522C>T, XM_017018430.1:c.522C>T, XM_017018432.3:c.426C>T, XM_017018432.2:c.426C>T, XM_017018432.1:c.426C>T, XM_017018433.3:c.426C>T, XM_017018433.2:c.426C>T, XM_017018433.1:c.426C>T, XM_006718926.3:c.522C>T, XM_006718926.2:c.522C>T, XM_006718926.1:c.522C>T, XM_011543038.3:c.522C>T, XM_011543038.2:c.522C>T, XM_011543038.1:c.522C>T, XM_024448724.2:c.522C>T, XM_024448724.1:c.522C>T, NM_001144034.2:c.522C>T, NM_001144034.1:c.522C>T, NM_001144035.2:c.522C>T, NM_001144035.1:c.522C>T, NM_001144037.2:c.522C>T, NM_001144037.1:c.522C>T, NM_001144038.2:c.522C>T, NM_001144038.1:c.522C>T, NM_001144036.2:c.210C>T, NM_001144036.1:c.210C>T, NR_134852.2:n.183C>T, NR_134852.1:n.287C>T, XM_005271703.2:c.522C>T, XM_005271703.1:c.522C>T, NM_001318755.2:c.522C>T, NM_001318755.1:c.522C>T, XM_047427721.1:c.522C>T, XM_047427723.1:c.522C>T, XM_047427735.1:c.426C>T, XM_047427725.1:c.522C>T, XM_047427744.1:c.426C>T, XM_047427741.1:c.522C>T, XM_047427743.1:c.522C>T, XM_047427722.1:c.522C>T, XM_047427724.1:c.522C>T, XM_047427734.1:c.426C>T, XM_047427738.1:c.426C>T, XM_047427736.1:c.426C>T, XM_047427737.1:c.426C>T, XM_047427727.1:c.522C>T, XM_047427726.1:c.522C>T, XM_047427745.1:c.426C>T, XM_047427739.1:c.426C>T, XM_047427740.1:c.522C>T, XM_047427742.1:c.522C>T, XM_047427746.1:c.426C>T, XM_047427720.1:c.522C>T, XM_047427730.1:c.426C>T, XM_047427733.1:c.522C>T, XM_047427728.1:c.426C>T, XM_047427729.1:c.426C>T, XM_047427731.1:c.522C>T, XM_047427732.1:c.522C>T

                                        20.

                                        rs1330000052 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          11:118533161 (GRCh38)
                                          11:118403876 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:118533160:G:C
                                          Gene:
                                          TMEM25 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.002449/62 (ALFA)
                                          C=0.000301/70 (GnomAD_exomes)
                                          C=0.000893/4 (Estonian)
                                          C=0.001027/3 (KOREAN)
                                          C=0.001092/2 (Korea1K)
                                          HGVS:
                                          NC_000011.10:g.118533161G>C, NC_000011.9:g.118403876G>C, NW_003871072.2:g.158599G>C, NM_032780.4:c.627G>C, NM_032780.3:c.627G>C, XM_017018422.3:c.627G>C, XM_017018422.2:c.627G>C, XM_017018422.1:c.627G>C, XM_017018430.3:c.627G>C, XM_017018430.2:c.627G>C, XM_017018430.1:c.627G>C, XM_017018432.3:c.531G>C, XM_017018432.2:c.531G>C, XM_017018432.1:c.531G>C, XM_017018433.3:c.531G>C, XM_017018433.2:c.531G>C, XM_017018433.1:c.531G>C, XM_006718926.3:c.627G>C, XM_006718926.2:c.627G>C, XM_006718926.1:c.627G>C, XM_011543038.3:c.627G>C, XM_011543038.2:c.627G>C, XM_011543038.1:c.627G>C, XM_024448724.2:c.627G>C, XM_024448724.1:c.627G>C, NM_001144034.2:c.627G>C, NM_001144034.1:c.627G>C, NM_001144035.2:c.627G>C, NM_001144035.1:c.627G>C, NM_001144037.2:c.627G>C, NM_001144037.1:c.627G>C, NM_001144038.2:c.627G>C, NM_001144038.1:c.627G>C, NM_001144036.2:c.315G>C, NM_001144036.1:c.315G>C, NR_134852.2:n.288G>C, NR_134852.1:n.392G>C, XM_005271703.2:c.627G>C, XM_005271703.1:c.627G>C, NM_001318755.2:c.627G>C, NM_001318755.1:c.627G>C, XM_047427721.1:c.627G>C, XM_047427723.1:c.627G>C, XM_047427735.1:c.531G>C, XM_047427725.1:c.627G>C, XM_047427744.1:c.531G>C, XM_047427741.1:c.627G>C, XM_047427743.1:c.627G>C, XM_047427722.1:c.627G>C, XM_047427724.1:c.627G>C, XM_047427734.1:c.531G>C, XM_047427738.1:c.531G>C, XM_047427736.1:c.531G>C, XM_047427737.1:c.531G>C, XM_047427727.1:c.627G>C, XM_047427726.1:c.627G>C, XM_047427745.1:c.531G>C, XM_047427739.1:c.531G>C, XM_047427740.1:c.627G>C, XM_047427742.1:c.627G>C, XM_047427746.1:c.531G>C, XM_047427720.1:c.627G>C, XM_047427730.1:c.531G>C, XM_047427733.1:c.627G>C, XM_047427728.1:c.531G>C, XM_047427729.1:c.531G>C, XM_047427731.1:c.627G>C, XM_047427732.1:c.627G>C

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